Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.33443759G>ACA450104327SYNGAP1,SYNGAP1-AS1c.2949G>A (p.Gln983=)
c.3207G>A (p.Gln1069=)
c.3165G>A (p.Gln1055=)
c.3030G>A (p.Gln1010=)
c.3162G>A (p.Gln1054=)
n.329+2847C>T
6g.33443759G>CCA363632084SYNGAP1,SYNGAP1-AS1c.2949G>C (p.Gln983His)
c.3207G>C (p.Gln1069His)
c.3165G>C (p.Gln1055His)
c.3030G>C (p.Gln1010His)
c.3162G>C (p.Gln1054His)
n.329+2847C>G
6g.33443759G>TCA363632081SYNGAP1,SYNGAP1-AS1c.2949G>T (p.Gln983His)
c.3207G>T (p.Gln1069His)
c.3165G>T (p.Gln1055His)
c.3030G>T (p.Gln1010His)
c.3162G>T (p.Gln1054His)
n.329+2847C>A
6g.33443760A>CCA450104328SYNGAP1,SYNGAP1-AS1c.2950A>C (p.Arg984=)
c.3208A>C (p.Arg1070=)
c.3166A>C (p.Arg1056=)
c.3031A>C (p.Arg1011=)
c.3163A>C (p.Arg1055=)
n.329+2846T>G
6g.33443760A>GCA363632088SYNGAP1,SYNGAP1-AS1c.2950A>G (p.Arg984Gly)
c.3208A>G (p.Arg1070Gly)
c.3166A>G (p.Arg1056Gly)
c.3031A>G (p.Arg1011Gly)
c.3163A>G (p.Arg1055Gly)
n.329+2846T>C
6g.33443760A>TCA363632091SYNGAP1,SYNGAP1-AS1c.2950A>T (p.Arg984Trp)
c.3208A>T (p.Arg1070Trp)
c.3166A>T (p.Arg1056Trp)
c.3031A>T (p.Arg1011Trp)
c.3163A>T (p.Arg1055Trp)
n.329+2846T>A
6g.33443761G>ACA363632095SYNGAP1,SYNGAP1-AS1c.2951G>A (p.Arg984Lys)
c.3209G>A (p.Arg1070Lys)
c.3167G>A (p.Arg1056Lys)
c.3032G>A (p.Arg1011Lys)
c.3164G>A (p.Arg1055Lys)
n.329+2845C>T
 ClinVar dbSNP
6g.33443761G>CCA363632096SYNGAP1,SYNGAP1-AS1c.2951G>C (p.Arg984Thr)
c.3209G>C (p.Arg1070Thr)
c.3167G>C (p.Arg1056Thr)
c.3032G>C (p.Arg1011Thr)
c.3164G>C (p.Arg1055Thr)
n.329+2845C>G
6g.33443761G=CA1620014782SYNGAP1,SYNGAP1-AS1c.2951G= (p.Arg984=)
c.3209G= (p.Arg1070=)
c.3167G= (p.Arg1056=)
c.3032G= (p.Arg1011=)
c.3164G= (p.Arg1055=)
n.329+2845C=
6g.33443761G>TCA363632099SYNGAP1,SYNGAP1-AS1c.2951G>T (p.Arg984Met)
c.3209G>T (p.Arg1070Met)
c.3167G>T (p.Arg1056Met)
c.3032G>T (p.Arg1011Met)
c.3164G>T (p.Arg1055Met)
n.329+2845C>A
6g.33443761_33443762delinsCACA2697553287SYNGAP1,SYNGAP1-AS1c.2951_2952delinsCA (p.Arg984Thr)
c.3209_3210delinsCA (p.Arg1070Thr)
c.3167_3168delinsCA (p.Arg1056Thr)
c.3032_3033delinsCA (p.Arg1011Thr)
c.3164_3165delinsCA (p.Arg1055Thr)
n.329+2844_329+2845delinsTG
 ClinVar
6g.33443762G>ACA450104329SYNGAP1,SYNGAP1-AS1c.2952G>A (p.Arg984=)
c.3210G>A (p.Arg1070=)
c.3168G>A (p.Arg1056=)
c.3033G>A (p.Arg1011=)
c.3165G>A (p.Arg1055=)
n.329+2844C>T
6g.33443762G>CCA363632101SYNGAP1,SYNGAP1-AS1c.2952G>C (p.Arg984Ser)
c.3210G>C (p.Arg1070Ser)
c.3168G>C (p.Arg1056Ser)
c.3033G>C (p.Arg1011Ser)
c.3165G>C (p.Arg1055Ser)
n.329+2844C>G
6g.33443762G>TCA363632104SYNGAP1,SYNGAP1-AS1c.2952G>T (p.Arg984Ser)
c.3210G>T (p.Arg1070Ser)
c.3168G>T (p.Arg1056Ser)
c.3033G>T (p.Arg1011Ser)
c.3165G>T (p.Arg1055Ser)
n.329+2844C>A
6g.33443763G>ACA363632107SYNGAP1,SYNGAP1-AS1c.2953G>A (p.Gly985Ser)
c.3211G>A (p.Gly1071Ser)
c.3169G>A (p.Gly1057Ser)
c.3034G>A (p.Gly1012Ser)
c.3166G>A (p.Gly1056Ser)
n.329+2843C>T
6g.33443763G>CCA363632110SYNGAP1,SYNGAP1-AS1c.2953G>C (p.Gly985Arg)
c.3211G>C (p.Gly1071Arg)
c.3169G>C (p.Gly1057Arg)
c.3034G>C (p.Gly1012Arg)
c.3166G>C (p.Gly1056Arg)
n.329+2843C>G
6g.33443763G>TCA363632114SYNGAP1,SYNGAP1-AS1c.2953G>T (p.Gly985Cys)
c.3211G>T (p.Gly1071Cys)
c.3169G>T (p.Gly1057Cys)
c.3034G>T (p.Gly1012Cys)
c.3166G>T (p.Gly1056Cys)
n.329+2843C>A
6g.33443764G>ACA363632123SYNGAP1,SYNGAP1-AS1c.2954G>A (p.Gly985Asp)
c.3212G>A (p.Gly1071Asp)
c.3170G>A (p.Gly1057Asp)
c.3035G>A (p.Gly1012Asp)
c.3167G>A (p.Gly1056Asp)
n.329+2842C>T
6g.33443764G>CCA363632125SYNGAP1,SYNGAP1-AS1c.2954G>C (p.Gly985Ala)
c.3212G>C (p.Gly1071Ala)
c.3170G>C (p.Gly1057Ala)
c.3035G>C (p.Gly1012Ala)
c.3167G>C (p.Gly1056Ala)
n.329+2842C>G
6g.33443764G>TCA363632128SYNGAP1,SYNGAP1-AS1c.2954G>T (p.Gly985Val)
c.3212G>T (p.Gly1071Val)
c.3170G>T (p.Gly1057Val)
c.3035G>T (p.Gly1012Val)
c.3167G>T (p.Gly1056Val)
n.329+2842C>A
 gnomAD v4
6g.33443767_33443776delCA2695206225SYNGAP1,SYNGAP1-AS1c.2957_2966del (p.Lys986SerfsTer2)
c.3215_3224del (p.Lys1072SerfsTer2)
c.3173_3182del (p.Lys1058SerfsTer2)
c.3038_3047del (p.Lys1013SerfsTer2)
c.3170_3179del (p.Lys1057SerfsTer2)
n.329+2833_329+2842del
6g.33443765delCA2580074396SYNGAP1,SYNGAP1-AS1c.2955del (p.Lys986SerfsTer5)
c.3213del (p.Lys1072SerfsTer5)
c.3171del (p.Lys1058SerfsTer5)
c.3036del (p.Lys1013SerfsTer5)
c.3168del (p.Lys1057SerfsTer5)
n.329+2841del
 ClinVar
6g.33443765C>ACA450104330SYNGAP1,SYNGAP1-AS1c.2955C>A (p.Gly985=)
c.3213C>A (p.Gly1071=)
c.3171C>A (p.Gly1057=)
c.3036C>A (p.Gly1012=)
c.3168C>A (p.Gly1056=)
n.329+2841G>T
6g.33443765C>GCA450104331SYNGAP1,SYNGAP1-AS1c.2955C>G (p.Gly985=)
c.3213C>G (p.Gly1071=)
c.3171C>G (p.Gly1057=)
c.3036C>G (p.Gly1012=)
c.3168C>G (p.Gly1056=)
n.329+2841G>C
6g.33443765C>TCA450104332SYNGAP1,SYNGAP1-AS1c.2955C>T (p.Gly985=)
c.3213C>T (p.Gly1071=)
c.3171C>T (p.Gly1057=)
c.3036C>T (p.Gly1012=)
c.3168C>T (p.Gly1056=)
n.329+2841G>A
6g.33443766A=CA1620014783SYNGAP1,SYNGAP1-AS1c.2956A= (p.Lys986=)
c.3214A= (p.Lys1072=)
c.3172A= (p.Lys1058=)
c.3037A= (p.Lys1013=)
c.3169A= (p.Lys1057=)
n.329+2840T=
6g.33443766A>CCA363632137SYNGAP1,SYNGAP1-AS1c.2956A>C (p.Lys986Gln)
c.3214A>C (p.Lys1072Gln)
c.3172A>C (p.Lys1058Gln)
c.3037A>C (p.Lys1013Gln)
c.3169A>C (p.Lys1057Gln)
n.329+2840T>G
6g.33443766A>GCA363632136SYNGAP1,SYNGAP1-AS1c.2956A>G (p.Lys986Glu)
c.3214A>G (p.Lys1072Glu)
c.3172A>G (p.Lys1058Glu)
c.3037A>G (p.Lys1013Glu)
c.3169A>G (p.Lys1057Glu)
n.329+2840T>C
6g.33443766A>TCA363632133SYNGAP1,SYNGAP1-AS1c.2956A>T (p.Lys986Ter)
c.3214A>T (p.Lys1072Ter)
c.3172A>T (p.Lys1058Ter)
c.3037A>T (p.Lys1013Ter)
c.3169A>T (p.Lys1057Ter)
n.329+2840T>A
 dbSNP
6g.33443767A>CCA363632138SYNGAP1,SYNGAP1-AS1c.2957A>C (p.Lys986Thr)
c.3215A>C (p.Lys1072Thr)
c.3173A>C (p.Lys1058Thr)
c.3038A>C (p.Lys1013Thr)
c.3170A>C (p.Lys1057Thr)
n.329+2839T>G
6g.33443767A>GCA363632139SYNGAP1,SYNGAP1-AS1c.2957A>G (p.Lys986Arg)
c.3215A>G (p.Lys1072Arg)
c.3173A>G (p.Lys1058Arg)
c.3038A>G (p.Lys1013Arg)
c.3170A>G (p.Lys1057Arg)
n.329+2839T>C
 gnomAD v4
6g.33443767A>TCA363632140SYNGAP1,SYNGAP1-AS1c.2957A>T (p.Lys986Met)
c.3215A>T (p.Lys1072Met)
c.3173A>T (p.Lys1058Met)
c.3038A>T (p.Lys1013Met)
c.3170A>T (p.Lys1057Met)
n.329+2839T>A
6g.33443768G>ACA450104333SYNGAP1,SYNGAP1-AS1c.2958G>A (p.Lys986=)
c.3216G>A (p.Lys1072=)
c.3174G>A (p.Lys1058=)
c.3039G>A (p.Lys1013=)
c.3171G>A (p.Lys1057=)
n.329+2838C>T
6g.33443768G>CCA363632141SYNGAP1,SYNGAP1-AS1c.2958G>C (p.Lys986Asn)
c.3216G>C (p.Lys1072Asn)
c.3174G>C (p.Lys1058Asn)
c.3039G>C (p.Lys1013Asn)
c.3171G>C (p.Lys1057Asn)
n.329+2838C>G
6g.33443768G=CA1620014784SYNGAP1,SYNGAP1-AS1c.2958G= (p.Lys986=)
c.3216G= (p.Lys1072=)
c.3174G= (p.Lys1058=)
c.3039G= (p.Lys1013=)
c.3171G= (p.Lys1057=)
n.329+2838C=
6g.33443768G>TCA363632142SYNGAP1,SYNGAP1-AS1c.2958G>T (p.Lys986Asn)
c.3216G>T (p.Lys1072Asn)
c.3174G>T (p.Lys1058Asn)
c.3039G>T (p.Lys1013Asn)
c.3171G>T (p.Lys1057Asn)
n.329+2838C>A
 dbSNP
6g.33443769T>ACA363632146SYNGAP1,SYNGAP1-AS1c.2959T>A (p.Ser987Thr)
c.3217T>A (p.Ser1073Thr)
c.3175T>A (p.Ser1059Thr)
c.3040T>A (p.Ser1014Thr)
c.3172T>A (p.Ser1058Thr)
n.329+2837A>T
6g.33443769T>CCA363632145SYNGAP1,SYNGAP1-AS1c.2959T>C (p.Ser987Pro)
c.3217T>C (p.Ser1073Pro)
c.3175T>C (p.Ser1059Pro)
c.3040T>C (p.Ser1014Pro)
c.3172T>C (p.Ser1058Pro)
n.329+2837A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.33443769T>GCA363632144SYNGAP1,SYNGAP1-AS1c.2959T>G (p.Ser987Ala)
c.3217T>G (p.Ser1073Ala)
c.3175T>G (p.Ser1059Ala)
c.3040T>G (p.Ser1014Ala)
c.3172T>G (p.Ser1058Ala)
n.329+2837A>C
6g.33443769T=CA1620014785SYNGAP1,SYNGAP1-AS1c.2959T= (p.Ser987=)
c.3217T= (p.Ser1073=)
c.3175T= (p.Ser1059=)
c.3040T= (p.Ser1014=)
c.3172T= (p.Ser1058=)
n.329+2837A=
6g.33443770C>ACA363632147SYNGAP1,SYNGAP1-AS1c.2960C>A (p.Ser987Tyr)
c.3218C>A (p.Ser1073Tyr)
c.3176C>A (p.Ser1059Tyr)
c.3041C>A (p.Ser1014Tyr)
c.3173C>A (p.Ser1058Tyr)
n.329+2836G>T
6g.33443770C=CA1620014786SYNGAP1,SYNGAP1-AS1c.2960C= (p.Ser987=)
c.3218C= (p.Ser1073=)
c.3176C= (p.Ser1059=)
c.3041C= (p.Ser1014=)
c.3173C= (p.Ser1058=)
n.329+2836G=
6g.33443770C>GCA363632149SYNGAP1,SYNGAP1-AS1c.2960C>G (p.Ser987Cys)
c.3218C>G (p.Ser1073Cys)
c.3176C>G (p.Ser1059Cys)
c.3041C>G (p.Ser1014Cys)
c.3173C>G (p.Ser1058Cys)
n.329+2836G>C
 gnomAD v4
6g.33443770C>TCA137073480SYNGAP1,SYNGAP1-AS1c.2960C>T (p.Ser987Phe)
c.3218C>T (p.Ser1073Phe)
c.3176C>T (p.Ser1059Phe)
c.3041C>T (p.Ser1014Phe)
c.3173C>T (p.Ser1058Phe)
n.329+2836G>A
 dbSNP
6g.33443771T>ACA450104334SYNGAP1,SYNGAP1-AS1c.2961T>A (p.Ser987=)
c.3219T>A (p.Ser1073=)
c.3177T>A (p.Ser1059=)
c.3042T>A (p.Ser1014=)
c.3174T>A (p.Ser1058=)
n.329+2835A>T
6g.33443771T>CCA450104335SYNGAP1,SYNGAP1-AS1c.2961T>C (p.Ser987=)
c.3219T>C (p.Ser1073=)
c.3177T>C (p.Ser1059=)
c.3042T>C (p.Ser1014=)
c.3174T>C (p.Ser1058=)
n.329+2835A>G
6g.33443771T>GCA450104336SYNGAP1,SYNGAP1-AS1c.2961T>G (p.Ser987=)
c.3219T>G (p.Ser1073=)
c.3177T>G (p.Ser1059=)
c.3042T>G (p.Ser1014=)
c.3174T>G (p.Ser1058=)
n.329+2835A>C
6g.33443772C>ACA363632154SYNGAP1,SYNGAP1-AS1c.2962C>A (p.Gln988Lys)
c.3220C>A (p.Gln1074Lys)
c.3178C>A (p.Gln1060Lys)
c.3043C>A (p.Gln1015Lys)
c.3175C>A (p.Gln1059Lys)
n.329+2834G>T
6g.33443772C=CA1620014787SYNGAP1,SYNGAP1-AS1c.2962C= (p.Gln988=)
c.3220C= (p.Gln1074=)
c.3178C= (p.Gln1060=)
c.3043C= (p.Gln1015=)
c.3175C= (p.Gln1059=)
n.329+2834G=
6g.33443772C>GCA363632156SYNGAP1,SYNGAP1-AS1c.2962C>G (p.Gln988Glu)
c.3220C>G (p.Gln1074Glu)
c.3178C>G (p.Gln1060Glu)
c.3043C>G (p.Gln1015Glu)
c.3175C>G (p.Gln1059Glu)
n.329+2834G>C
6g.33443772C>TCA363632164SYNGAP1,SYNGAP1-AS1c.2962C>T (p.Gln988Ter)
c.3220C>T (p.Gln1074Ter)
c.3178C>T (p.Gln1060Ter)
c.3043C>T (p.Gln1015Ter)
c.3175C>T (p.Gln1059Ter)
n.329+2834G>A
 dbSNP
6g.33443773A>CCA363632179SYNGAP1,SYNGAP1-AS1c.2963A>C (p.Gln988Pro)
c.3221A>C (p.Gln1074Pro)
c.3179A>C (p.Gln1060Pro)
c.3044A>C (p.Gln1015Pro)
c.3176A>C (p.Gln1059Pro)
n.329+2833T>G
 gnomAD v4
6g.33443773A>GCA363632168SYNGAP1,SYNGAP1-AS1c.2963A>G (p.Gln988Arg)
c.3221A>G (p.Gln1074Arg)
c.3179A>G (p.Gln1060Arg)
c.3044A>G (p.Gln1015Arg)
c.3176A>G (p.Gln1059Arg)
n.329+2833T>C
 gnomAD v4
6g.33443773A>TCA363632171SYNGAP1,SYNGAP1-AS1c.2963A>T (p.Gln988Leu)
c.3221A>T (p.Gln1074Leu)
c.3179A>T (p.Gln1060Leu)
c.3044A>T (p.Gln1015Leu)
c.3176A>T (p.Gln1059Leu)
n.329+2833T>A
6g.33443774G>ACA450104337SYNGAP1,SYNGAP1-AS1c.2964G>A (p.Gln988=)
c.3222G>A (p.Gln1074=)
c.3180G>A (p.Gln1060=)
c.3045G>A (p.Gln1015=)
c.3177G>A (p.Gln1059=)
n.329+2832C>T
6g.33443774G>CCA363632186SYNGAP1,SYNGAP1-AS1c.2964G>C (p.Gln988His)
c.3222G>C (p.Gln1074His)
c.3180G>C (p.Gln1060His)
c.3045G>C (p.Gln1015His)
c.3177G>C (p.Gln1059His)
n.329+2832C>G
6g.33443774G>TCA363632188SYNGAP1,SYNGAP1-AS1c.2964G>T (p.Gln988His)
c.3222G>T (p.Gln1074His)
c.3180G>T (p.Gln1060His)
c.3045G>T (p.Gln1015His)
c.3177G>T (p.Gln1059His)
n.329+2832C>A
6g.33443775C>ACA363632191SYNGAP1,SYNGAP1-AS1c.2965C>A (p.Gln989Lys)
c.3223C>A (p.Gln1075Lys)
c.3181C>A (p.Gln1061Lys)
c.3046C>A (p.Gln1016Lys)
c.3178C>A (p.Gln1060Lys)
n.329+2831G>T
 ClinVar
6g.33443775C=CA1620014788SYNGAP1,SYNGAP1-AS1c.2965C= (p.Gln989=)
c.3223C= (p.Gln1075=)
c.3181C= (p.Gln1061=)
c.3046C= (p.Gln1016=)
c.3178C= (p.Gln1060=)
n.329+2831G=
6g.33443775C>GCA363632195SYNGAP1,SYNGAP1-AS1c.2965C>G (p.Gln989Glu)
c.3223C>G (p.Gln1075Glu)
c.3181C>G (p.Gln1061Glu)
c.3046C>G (p.Gln1016Glu)
c.3178C>G (p.Gln1060Glu)
n.329+2831G>C
6g.33443775C>TCA363632198SYNGAP1,SYNGAP1-AS1c.2965C>T (p.Gln989Ter)
c.3223C>T (p.Gln1075Ter)
c.3181C>T (p.Gln1061Ter)
c.3046C>T (p.Gln1016Ter)
c.3178C>T (p.Gln1060Ter)
n.329+2831G>A
 dbSNP
6g.33443776A>CCA363632208SYNGAP1,SYNGAP1-AS1c.2966A>C (p.Gln989Pro)
c.3224A>C (p.Gln1075Pro)
c.3182A>C (p.Gln1061Pro)
c.3047A>C (p.Gln1016Pro)
c.3179A>C (p.Gln1060Pro)
n.329+2830T>G
6g.33443776A>GCA363632210SYNGAP1,SYNGAP1-AS1c.2966A>G (p.Gln989Arg)
c.3224A>G (p.Gln1075Arg)
c.3182A>G (p.Gln1061Arg)
c.3047A>G (p.Gln1016Arg)
c.3179A>G (p.Gln1060Arg)
n.329+2830T>C
6g.33443776A>TCA363632212SYNGAP1,SYNGAP1-AS1c.2966A>T (p.Gln989Leu)
c.3224A>T (p.Gln1075Leu)
c.3182A>T (p.Gln1061Leu)
c.3047A>T (p.Gln1016Leu)
c.3179A>T (p.Gln1060Leu)
n.329+2830T>A
6g.33443777G>ACA450104338SYNGAP1,SYNGAP1-AS1c.2967G>A (p.Gln989=)
c.3225G>A (p.Gln1075=)
c.3183G>A (p.Gln1061=)
c.3048G>A (p.Gln1016=)
c.3180G>A (p.Gln1060=)
n.329+2829C>T
 gnomAD v4
6g.33443777G>CCA363632215SYNGAP1,SYNGAP1-AS1c.2967G>C (p.Gln989His)
c.3225G>C (p.Gln1075His)
c.3183G>C (p.Gln1061His)
c.3048G>C (p.Gln1016His)
c.3180G>C (p.Gln1060His)
n.329+2829C>G
6g.33443777G>TCA363632218SYNGAP1,SYNGAP1-AS1c.2967G>T (p.Gln989His)
c.3225G>T (p.Gln1075His)
c.3183G>T (p.Gln1061His)
c.3048G>T (p.Gln1016His)
c.3180G>T (p.Gln1060His)
n.329+2829C>A
6g.33443777_33443778delinsGTCA1620014789SYNGAP1,SYNGAP1-AS1c.2967_2968delinsGT (p.Gln989=)
c.3225_3226delinsGT (p.Gln1075=)
c.3183_3184delinsGT (p.Gln1061=)
c.3048_3049delinsGT (p.Gln1016=)
c.3180_3181delinsGT (p.Gln1060=)
n.329+2828_329+2829delinsAC
6g.33443778T>ACA363632223SYNGAP1,SYNGAP1-AS1c.2968T>A (p.Leu990Met)
c.3226T>A (p.Leu1076Met)
c.3184T>A (p.Leu1062Met)
c.3049T>A (p.Leu1017Met)
c.3181T>A (p.Leu1061Met)
n.329+2828A>T
6g.33443778T>CCA3759003SYNGAP1,SYNGAP1-AS1c.2968T>C (p.Leu990=)
c.3226T>C (p.Leu1076=)
c.3184T>C (p.Leu1062=)
c.3049T>C (p.Leu1017=)
c.3181T>C (p.Leu1061=)
n.329+2828A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6g.33443778T>GCA363632227SYNGAP1,SYNGAP1-AS1c.2968T>G (p.Leu990Val)
c.3226T>G (p.Leu1076Val)
c.3184T>G (p.Leu1062Val)
c.3049T>G (p.Leu1017Val)
c.3181T>G (p.Leu1061Val)
n.329+2828A>C
6g.33443778T=CA1620014790SYNGAP1,SYNGAP1-AS1c.2968T= (p.Leu990=)
c.3226T= (p.Leu1076=)
c.3184T= (p.Leu1062=)
c.3049T= (p.Leu1017=)
c.3181T= (p.Leu1061=)
n.329+2828A=
6g.33443779delCA16618283SYNGAP1,SYNGAP1-AS1c.2969del (p.Leu990Ter)
c.3227del (p.Leu1076Ter)
c.3185del (p.Leu1062Ter)
c.3050del (p.Leu1017Ter)
c.3182del (p.Leu1061Ter)
n.329+2828del
 ClinVar dbSNP
6g.33443779T>ACA363632236SYNGAP1,SYNGAP1-AS1c.2969T>A (p.Leu990Ter)
c.3227T>A (p.Leu1076Ter)
c.3185T>A (p.Leu1062Ter)
c.3050T>A (p.Leu1017Ter)
c.3182T>A (p.Leu1061Ter)
n.329+2827A>T
6g.33443779T>CCA363632232SYNGAP1,SYNGAP1-AS1c.2969T>C (p.Leu990Ser)
c.3227T>C (p.Leu1076Ser)
c.3185T>C (p.Leu1062Ser)
c.3050T>C (p.Leu1017Ser)
c.3182T>C (p.Leu1061Ser)
n.329+2827A>G
6g.33443779T>GCA363632234SYNGAP1,SYNGAP1-AS1c.2969T>G (p.Leu990Trp)
c.3227T>G (p.Leu1076Trp)
c.3185T>G (p.Leu1062Trp)
c.3050T>G (p.Leu1017Trp)
c.3182T>G (p.Leu1061Trp)
n.329+2827A>C
6g.33443780G>ACA450104339SYNGAP1,SYNGAP1-AS1c.2970G>A (p.Leu990=)
c.3228G>A (p.Leu1076=)
c.3186G>A (p.Leu1062=)
c.3051G>A (p.Leu1017=)
c.3183G>A (p.Leu1061=)
n.329+2826C>T
6g.33443780G>CCA363632241SYNGAP1,SYNGAP1-AS1c.2970G>C (p.Leu990Phe)
c.3228G>C (p.Leu1076Phe)
c.3186G>C (p.Leu1062Phe)
c.3051G>C (p.Leu1017Phe)
c.3183G>C (p.Leu1061Phe)
n.329+2826C>G
6g.33443780G>TCA363632246SYNGAP1,SYNGAP1-AS1c.2970G>T (p.Leu990Phe)
c.3228G>T (p.Leu1076Phe)
c.3186G>T (p.Leu1062Phe)
c.3051G>T (p.Leu1017Phe)
c.3183G>T (p.Leu1061Phe)
n.329+2826C>A
6g.33443781A>CCA363632250SYNGAP1,SYNGAP1-AS1c.2971A>C (p.Thr991Pro)
c.3229A>C (p.Thr1077Pro)
c.3187A>C (p.Thr1063Pro)
c.3052A>C (p.Thr1018Pro)
c.3184A>C (p.Thr1062Pro)
n.329+2825T>G
6g.33443781A>GCA363632264SYNGAP1,SYNGAP1-AS1c.2971A>G (p.Thr991Ala)
c.3229A>G (p.Thr1077Ala)
c.3187A>G (p.Thr1063Ala)
c.3052A>G (p.Thr1018Ala)
c.3184A>G (p.Thr1062Ala)
n.329+2825T>C
 gnomAD v4
6g.33443781A>TCA363632266SYNGAP1,SYNGAP1-AS1c.2971A>T (p.Thr991Ser)
c.3229A>T (p.Thr1077Ser)
c.3187A>T (p.Thr1063Ser)
c.3052A>T (p.Thr1018Ser)
c.3184A>T (p.Thr1062Ser)
n.329+2825T>A
6g.33443781_33443785delinsACAGTCA1620014791SYNGAP1,SYNGAP1-AS1c.2971_2975delinsACAGT (p.Thr991=)
c.3229_3233delinsACAGT (p.Thr1077=)
c.3187_3191delinsACAGT (p.Thr1063=)
c.3052_3056delinsACAGT (p.Thr1018=)
c.3184_3188delinsACAGT (p.Thr1062=)
n.329+2821_329+2825delinsACTGT
6g.33443782C>ACA363632272SYNGAP1,SYNGAP1-AS1c.2972C>A (p.Thr991Lys)
c.3230C>A (p.Thr1077Lys)
c.3188C>A (p.Thr1063Lys)
c.3053C>A (p.Thr1018Lys)
c.3185C>A (p.Thr1062Lys)
n.329+2824G>T
6g.33443782C>GCA363632271SYNGAP1,SYNGAP1-AS1c.2972C>G (p.Thr991Arg)
c.3230C>G (p.Thr1077Arg)
c.3188C>G (p.Thr1063Arg)
c.3053C>G (p.Thr1018Arg)
c.3185C>G (p.Thr1062Arg)
n.329+2824G>C
6g.33443782C>TCA363632269SYNGAP1,SYNGAP1-AS1c.2972C>T (p.Thr991Ile)
c.3230C>T (p.Thr1077Ile)
c.3188C>T (p.Thr1063Ile)
c.3053C>T (p.Thr1018Ile)
c.3185C>T (p.Thr1062Ile)
n.329+2824G>A
 gnomAD v4
6g.33443785_33443788delCA658761549SYNGAP1,SYNGAP1-AS1c.2975_2978del (p.Val992AlafsTer?)
c.3233_3236del (p.Val1078AlafsTer?)
c.3191_3194del (p.Val1064AlafsTer?)
c.3056_3059del (p.Val1019AlafsTer?)
c.3188_3191del (p.Val1063AlafsTer?)
n.329+2821_329+2824del
 ClinVar dbSNP
6g.33443783A=CA1620014792SYNGAP1,SYNGAP1-AS1c.2973A= (p.Thr991=)
c.3231A= (p.Thr1077=)
c.3189A= (p.Thr1063=)
c.3054A= (p.Thr1018=)
c.3186A= (p.Thr1062=)
n.329+2823T=
6g.33443783A>CCA450104341SYNGAP1,SYNGAP1-AS1c.2973A>C (p.Thr991=)
c.3231A>C (p.Thr1077=)
c.3189A>C (p.Thr1063=)
c.3054A>C (p.Thr1018=)
c.3186A>C (p.Thr1062=)
n.329+2823T>G
6g.33443783A>GCA137073492SYNGAP1,SYNGAP1-AS1c.2973A>G (p.Thr991=)
c.3231A>G (p.Thr1077=)
c.3189A>G (p.Thr1063=)
c.3054A>G (p.Thr1018=)
c.3186A>G (p.Thr1062=)
n.329+2823T>C
 dbSNP gnomAD v2 gnomAD v4
6g.33443783A>TCA450104340SYNGAP1,SYNGAP1-AS1c.2973A>T (p.Thr991=)
c.3231A>T (p.Thr1077=)
c.3189A>T (p.Thr1063=)
c.3054A>T (p.Thr1018=)
c.3186A>T (p.Thr1062=)
n.329+2823T>A
6g.33443784G>ACA363632275SYNGAP1,SYNGAP1-AS1c.2974G>A (p.Val992Ile)
c.3232G>A (p.Val1078Ile)
c.3190G>A (p.Val1064Ile)
c.3055G>A (p.Val1019Ile)
c.3187G>A (p.Val1063Ile)
n.329+2822C>T
6g.33443784G>CCA363632276SYNGAP1,SYNGAP1-AS1c.2974G>C (p.Val992Leu)
c.3232G>C (p.Val1078Leu)
c.3190G>C (p.Val1064Leu)
c.3055G>C (p.Val1019Leu)
c.3187G>C (p.Val1063Leu)
n.329+2822C>G
6g.33443784G>TCA363632284SYNGAP1,SYNGAP1-AS1c.2974G>T (p.Val992Phe)
c.3232G>T (p.Val1078Phe)
c.3190G>T (p.Val1064Phe)
c.3055G>T (p.Val1019Phe)
c.3187G>T (p.Val1063Phe)
n.329+2822C>A
6g.33443785_33443807delCA2499218230SYNGAP1,SYNGAP1-AS1c.2975_2997del (p.Val992AlafsTer?)
c.3233_3255del (p.Val1078AlafsTer?)
c.3191_3213del (p.Val1064AlafsTer?)
c.3056_3078del (p.Val1019AlafsTer?)
c.3188_3210del (p.Val1063AlafsTer?)
n.329+2800_329+2822del
 ClinVar dbSNP
6g.33443785T>ACA363632287SYNGAP1,SYNGAP1-AS1c.2975T>A (p.Val992Asp)
c.3233T>A (p.Val1078Asp)
c.3191T>A (p.Val1064Asp)
c.3056T>A (p.Val1019Asp)
c.3188T>A (p.Val1063Asp)
n.329+2821A>T
 ClinVar dbSNP
6g.33443785T>CCA363632298SYNGAP1,SYNGAP1-AS1c.2975T>C (p.Val992Ala)
c.3233T>C (p.Val1078Ala)
c.3191T>C (p.Val1064Ala)
c.3056T>C (p.Val1019Ala)
c.3188T>C (p.Val1063Ala)
n.329+2821A>G
6g.33443785T>GCA363632301SYNGAP1,SYNGAP1-AS1c.2975T>G (p.Val992Gly)
c.3233T>G (p.Val1078Gly)
c.3191T>G (p.Val1064Gly)
c.3056T>G (p.Val1019Gly)
c.3188T>G (p.Val1063Gly)
n.329+2821A>C
6g.33443785T=CA1620014793SYNGAP1,SYNGAP1-AS1c.2975T= (p.Val992=)
c.3233T= (p.Val1078=)
c.3191T= (p.Val1064=)
c.3056T= (p.Val1019=)
c.3188T= (p.Val1063=)
n.329+2821A=
6g.33443786C>ACA450104342SYNGAP1,SYNGAP1-AS1c.2976C>A (p.Val992=)
c.3234C>A (p.Val1078=)
c.3192C>A (p.Val1064=)
c.3057C>A (p.Val1019=)
c.3189C>A (p.Val1063=)
n.329+2820G>T
 gnomAD v4
6g.33443786C>GCA450104343SYNGAP1,SYNGAP1-AS1c.2976C>G (p.Val992=)
c.3234C>G (p.Val1078=)
c.3192C>G (p.Val1064=)
c.3057C>G (p.Val1019=)
c.3189C>G (p.Val1063=)
n.329+2820G>C
6g.33443786C>TCA450104344SYNGAP1,SYNGAP1-AS1c.2976C>T (p.Val992=)
c.3234C>T (p.Val1078=)
c.3192C>T (p.Val1064=)
c.3057C>T (p.Val1019=)
c.3189C>T (p.Val1063=)
n.329+2820G>A
6g.33443787A>CCA363632307SYNGAP1,SYNGAP1-AS1c.2977A>C (p.Ser993Arg)
c.3235A>C (p.Ser1079Arg)
c.3193A>C (p.Ser1065Arg)
c.3058A>C (p.Ser1020Arg)
c.3190A>C (p.Ser1064Arg)
n.329+2819T>G
6g.33443787A>GCA363632304SYNGAP1,SYNGAP1-AS1c.2977A>G (p.Ser993Gly)
c.3235A>G (p.Ser1079Gly)
c.3193A>G (p.Ser1065Gly)
c.3058A>G (p.Ser1020Gly)
c.3190A>G (p.Ser1064Gly)
n.329+2819T>C
 gnomAD v4
6g.33443787A>TCA363632305SYNGAP1,SYNGAP1-AS1c.2977A>T (p.Ser993Cys)
c.3235A>T (p.Ser1079Cys)
c.3193A>T (p.Ser1065Cys)
c.3058A>T (p.Ser1020Cys)
c.3190A>T (p.Ser1064Cys)
n.329+2819T>A
6g.33443788G>ACA363632309SYNGAP1,SYNGAP1-AS1c.2978G>A (p.Ser993Asn)
c.3236G>A (p.Ser1079Asn)
c.3194G>A (p.Ser1065Asn)
c.3059G>A (p.Ser1020Asn)
c.3191G>A (p.Ser1064Asn)
n.329+2818C>T
6g.33443788G>CCA363632312SYNGAP1,SYNGAP1-AS1c.2978G>C (p.Ser993Thr)
c.3236G>C (p.Ser1079Thr)
c.3194G>C (p.Ser1065Thr)
c.3059G>C (p.Ser1020Thr)
c.3191G>C (p.Ser1064Thr)
n.329+2818C>G
6g.33443788G=CA1620014794SYNGAP1,SYNGAP1-AS1c.2978G= (p.Ser993=)
c.3236G= (p.Ser1079=)
c.3194G= (p.Ser1065=)
c.3059G= (p.Ser1020=)
c.3191G= (p.Ser1064=)
n.329+2818C=
6g.33443788G>TCA3759004SYNGAP1,SYNGAP1-AS1c.2978G>T (p.Ser993Ile)
c.3236G>T (p.Ser1079Ile)
c.3194G>T (p.Ser1065Ile)
c.3059G>T (p.Ser1020Ile)
c.3191G>T (p.Ser1064Ile)
n.329+2818C>A
 dbSNP ExAC gnomAD v2
6g.33443789C>ACA137073500SYNGAP1,SYNGAP1-AS1c.2979C>A (p.Ser993Arg)
c.3237C>A (p.Ser1079Arg)
c.3195C>A (p.Ser1065Arg)
c.3060C>A (p.Ser1020Arg)
c.3192C>A (p.Ser1064Arg)
n.329+2817G>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.33443789C=CA1620014795SYNGAP1,SYNGAP1-AS1c.2979C= (p.Ser993=)
c.3237C= (p.Ser1079=)
c.3195C= (p.Ser1065=)
c.3060C= (p.Ser1020=)
c.3192C= (p.Ser1064=)
n.329+2817G=
6g.33443789C>GCA363632315SYNGAP1,SYNGAP1-AS1c.2979C>G (p.Ser993Arg)
c.3237C>G (p.Ser1079Arg)
c.3195C>G (p.Ser1065Arg)
c.3060C>G (p.Ser1020Arg)
c.3192C>G (p.Ser1064Arg)
n.329+2817G>C
 ClinVar dbSNP
6g.33443789C>TCA3759005SYNGAP1,SYNGAP1-AS1c.2979C>T (p.Ser993=)
c.3237C>T (p.Ser1079=)
c.3195C>T (p.Ser1065=)
c.3060C>T (p.Ser1020=)
c.3192C>T (p.Ser1064=)
n.329+2817G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.33443790G>ACA363632317SYNGAP1,SYNGAP1-AS1c.2980G>A (p.Ala994Thr)
c.3238G>A (p.Ala1080Thr)
c.3196G>A (p.Ala1066Thr)
c.3061G>A (p.Ala1021Thr)
c.3193G>A (p.Ala1065Thr)
n.329+2816C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.33443790G>CCA363632318SYNGAP1,SYNGAP1-AS1c.2980G>C (p.Ala994Pro)
c.3238G>C (p.Ala1080Pro)
c.3196G>C (p.Ala1066Pro)
c.3061G>C (p.Ala1021Pro)
c.3193G>C (p.Ala1065Pro)
n.329+2816C>G
6g.33443790G=CA1620014796SYNGAP1,SYNGAP1-AS1c.2980G= (p.Ala994=)
c.3238G= (p.Ala1080=)
c.3196G= (p.Ala1066=)
c.3061G= (p.Ala1021=)
c.3193G= (p.Ala1065=)
n.329+2816C=
6g.33443790G>TCA363632320SYNGAP1,SYNGAP1-AS1c.2980G>T (p.Ala994Ser)
c.3238G>T (p.Ala1080Ser)
c.3196G>T (p.Ala1066Ser)
c.3061G>T (p.Ala1021Ser)
c.3193G>T (p.Ala1065Ser)
n.329+2816C>A
 ClinVar gnomAD v4
6g.33443791C>ACA363632323SYNGAP1,SYNGAP1-AS1c.2981C>A (p.Ala994Glu)
c.3239C>A (p.Ala1080Glu)
c.3197C>A (p.Ala1066Glu)
c.3062C>A (p.Ala1021Glu)
c.3194C>A (p.Ala1065Glu)
n.329+2815G>T
 gnomAD v4
6g.33443791C>GCA363632325SYNGAP1,SYNGAP1-AS1c.2981C>G (p.Ala994Gly)
c.3239C>G (p.Ala1080Gly)
c.3197C>G (p.Ala1066Gly)
c.3062C>G (p.Ala1021Gly)
c.3194C>G (p.Ala1065Gly)
n.329+2815G>C
6g.33443791C>TCA363632328SYNGAP1,SYNGAP1-AS1c.2981C>T (p.Ala994Val)
c.3239C>T (p.Ala1080Val)
c.3197C>T (p.Ala1066Val)
c.3062C>T (p.Ala1021Val)
c.3194C>T (p.Ala1065Val)
n.329+2815G>A
 gnomAD v4
6g.33443792A>CCA449836165SYNGAP1,SYNGAP1-AS1c.2982A>C (p.Ala994=)
c.3240A>C (p.Ala1080=)
c.3198A>C (p.Ala1066=)
c.3063A>C (p.Ala1021=)
c.3195A>C (p.Ala1065=)
n.329+2814T>G
6g.33443792A>GCA449836166SYNGAP1,SYNGAP1-AS1c.2982A>G (p.Ala994=)
c.3240A>G (p.Ala1080=)
c.3198A>G (p.Ala1066=)
c.3063A>G (p.Ala1021=)
c.3195A>G (p.Ala1065=)
n.329+2814T>C
6g.33443792A>TCA449836167SYNGAP1,SYNGAP1-AS1c.2982A>T (p.Ala994=)
c.3240A>T (p.Ala1080=)
c.3198A>T (p.Ala1066=)
c.3063A>T (p.Ala1021=)
c.3195A>T (p.Ala1065=)
n.329+2814T>A
6g.33443793G>ACA363632345SYNGAP1,SYNGAP1-AS1c.2983G>A (p.Ala995Thr)
c.3241G>A (p.Ala1081Thr)
c.3199G>A (p.Ala1067Thr)
c.3064G>A (p.Ala1022Thr)
c.3196G>A (p.Ala1066Thr)
n.329+2813C>T
6g.33443793G>CCA363632338SYNGAP1,SYNGAP1-AS1c.2983G>C (p.Ala995Pro)
c.3241G>C (p.Ala1081Pro)
c.3199G>C (p.Ala1067Pro)
c.3064G>C (p.Ala1022Pro)
c.3196G>C (p.Ala1066Pro)
n.329+2813C>G
6g.33443793G>TCA363632342SYNGAP1,SYNGAP1-AS1c.2983G>T (p.Ala995Ser)
c.3241G>T (p.Ala1081Ser)
c.3199G>T (p.Ala1067Ser)
c.3064G>T (p.Ala1022Ser)
c.3196G>T (p.Ala1066Ser)
n.329+2813C>A
6g.33443794C>ACA363632349SYNGAP1,SYNGAP1-AS1c.2984C>A (p.Ala995Asp)
c.3242C>A (p.Ala1081Asp)
c.3200C>A (p.Ala1067Asp)
c.3065C>A (p.Ala1022Asp)
c.3197C>A (p.Ala1066Asp)
n.329+2812G>T
6g.33443794C>GCA363632351SYNGAP1,SYNGAP1-AS1c.2984C>G (p.Ala995Gly)
c.3242C>G (p.Ala1081Gly)
c.3200C>G (p.Ala1067Gly)
c.3065C>G (p.Ala1022Gly)
c.3197C>G (p.Ala1066Gly)
n.329+2812G>C
6g.33443794C>TCA363632354SYNGAP1,SYNGAP1-AS1c.2984C>T (p.Ala995Val)
c.3242C>T (p.Ala1081Val)
c.3200C>T (p.Ala1067Val)
c.3065C>T (p.Ala1022Val)
c.3197C>T (p.Ala1066Val)
n.329+2812G>A
 gnomAD v4
6g.33443795C>ACA449836168SYNGAP1,SYNGAP1-AS1c.2985C>A (p.Ala995=)
c.3243C>A (p.Ala1081=)
c.3201C>A (p.Ala1067=)
c.3066C>A (p.Ala1022=)
c.3198C>A (p.Ala1066=)
n.329+2811G>T
6g.33443795C>GCA449836169SYNGAP1,SYNGAP1-AS1c.2985C>G (p.Ala995=)
c.3243C>G (p.Ala1081=)
c.3201C>G (p.Ala1067=)
c.3066C>G (p.Ala1022=)
c.3198C>G (p.Ala1066=)
n.329+2811G>C
6g.33443795C>TCA449836170SYNGAP1,SYNGAP1-AS1c.2985C>T (p.Ala995=)
c.3243C>T (p.Ala1081=)
c.3201C>T (p.Ala1067=)
c.3066C>T (p.Ala1022=)
c.3198C>T (p.Ala1066=)
n.329+2811G>A
6g.33443796C>ACA363632359SYNGAP1,SYNGAP1-AS1c.2986C>A (p.Gln996Lys)
c.3244C>A (p.Gln1082Lys)
c.3202C>A (p.Gln1068Lys)
c.3067C>A (p.Gln1023Lys)
c.3199C>A (p.Gln1067Lys)
n.329+2810G>T
6g.33443796C=CA1620014797SYNGAP1,SYNGAP1-AS1c.2986C= (p.Gln996=)
c.3244C= (p.Gln1082=)
c.3202C= (p.Gln1068=)
c.3067C= (p.Gln1023=)
c.3199C= (p.Gln1067=)
n.329+2810G=
6g.33443796C>GCA363632361SYNGAP1,SYNGAP1-AS1c.2986C>G (p.Gln996Glu)
c.3244C>G (p.Gln1082Glu)
c.3202C>G (p.Gln1068Glu)
c.3067C>G (p.Gln1023Glu)
c.3199C>G (p.Gln1067Glu)
n.329+2810G>C
 gnomAD v4
6g.33443796C>TCA363632364SYNGAP1,SYNGAP1-AS1c.2986C>T (p.Gln996Ter)
c.3244C>T (p.Gln1082Ter)
c.3202C>T (p.Gln1068Ter)
c.3067C>T (p.Gln1023Ter)
c.3199C>T (p.Gln1067Ter)
n.329+2810G>A
 ClinVar dbSNP gnomAD v4
6g.33443797A>CCA363632368SYNGAP1,SYNGAP1-AS1c.2987A>C (p.Gln996Pro)
c.3245A>C (p.Gln1082Pro)
c.3203A>C (p.Gln1068Pro)
c.3068A>C (p.Gln1023Pro)
c.3200A>C (p.Gln1067Pro)
n.329+2809T>G
6g.33443797A>GCA363632370SYNGAP1,SYNGAP1-AS1c.2987A>G (p.Gln996Arg)
c.3245A>G (p.Gln1082Arg)
c.3203A>G (p.Gln1068Arg)
c.3068A>G (p.Gln1023Arg)
c.3200A>G (p.Gln1067Arg)
n.329+2809T>C
6g.33443797A>TCA363632372SYNGAP1,SYNGAP1-AS1c.2987A>T (p.Gln996Leu)
c.3245A>T (p.Gln1082Leu)
c.3203A>T (p.Gln1068Leu)
c.3068A>T (p.Gln1023Leu)
c.3200A>T (p.Gln1067Leu)
n.329+2809T>A
6g.33443797dupCA2739289866SYNGAP1,SYNGAP1-AS1c.2987dup (p.Lys997GlufsTer?)
c.3245dup (p.Lys1083GlufsTer?)
c.3203dup (p.Lys1069GlufsTer?)
c.3068dup (p.Lys1024GlufsTer?)
c.3200dup (p.Lys1068GlufsTer?)
n.329+2809dup
6g.33443797_33443798delinsAGCA1620014798SYNGAP1,SYNGAP1-AS1c.2987_2988delinsAG (p.Gln996=)
c.3245_3246delinsAG (p.Gln1082=)
c.3203_3204delinsAG (p.Gln1068=)
c.3068_3069delinsAG (p.Gln1023=)
c.3200_3201delinsAG (p.Gln1067=)
n.329+2808_329+2809delinsCT
6g.33443798G>ACA449836175SYNGAP1,SYNGAP1-AS1c.2988G>A (p.Gln996=)
c.3246G>A (p.Gln1082=)
c.3204G>A (p.Gln1068=)
c.3069G>A (p.Gln1023=)
c.3201G>A (p.Gln1067=)
n.329+2808C>T
 gnomAD v4
6g.33443798G>CCA363632375SYNGAP1,SYNGAP1-AS1c.2988G>C (p.Gln996His)
c.3246G>C (p.Gln1082His)
c.3204G>C (p.Gln1068His)
c.3069G>C (p.Gln1023His)
c.3201G>C (p.Gln1067His)
n.329+2808C>G
 COSMIC COSMIC
6g.33443798G>TCA363632378SYNGAP1,SYNGAP1-AS1c.2988G>T (p.Gln996His)
c.3246G>T (p.Gln1082His)
c.3204G>T (p.Gln1068His)
c.3069G>T (p.Gln1023His)
c.3201G>T (p.Gln1067His)
n.329+2808C>A
 gnomAD v4
6g.33443798delinsAACA658796748SYNGAP1,SYNGAP1-AS1c.2988delinsAA (p.Pro998ThrfsTer?)
c.3246delinsAA (p.Pro1084ThrfsTer?)
c.3204delinsAA (p.Pro1070ThrfsTer?)
c.3069delinsAA (p.Pro1025ThrfsTer?)
c.3201delinsAA (p.Pro1069ThrfsTer?)
n.329+2808delinsTT
 ClinVar dbSNP
6g.33443799A>CCA363632380SYNGAP1,SYNGAP1-AS1c.2989A>C (p.Lys997Gln)
c.3247A>C (p.Lys1083Gln)
c.3205A>C (p.Lys1069Gln)
c.3070A>C (p.Lys1024Gln)
c.3202A>C (p.Lys1068Gln)
n.329+2807T>G
6g.33443799A>GCA363632383SYNGAP1,SYNGAP1-AS1c.2989A>G (p.Lys997Glu)
c.3247A>G (p.Lys1083Glu)
c.3205A>G (p.Lys1069Glu)
c.3070A>G (p.Lys1024Glu)
c.3202A>G (p.Lys1068Glu)
n.329+2807T>C
6g.33443799A>TCA363632386SYNGAP1,SYNGAP1-AS1c.2989A>T (p.Lys997Ter)
c.3247A>T (p.Lys1083Ter)
c.3205A>T (p.Lys1069Ter)
c.3070A>T (p.Lys1024Ter)
c.3202A>T (p.Lys1068Ter)
n.329+2807T>A
6g.33443800A>CCA363632390SYNGAP1,SYNGAP1-AS1c.2990A>C (p.Lys997Thr)
c.3248A>C (p.Lys1083Thr)
c.3206A>C (p.Lys1069Thr)
c.3071A>C (p.Lys1024Thr)
c.3203A>C (p.Lys1068Thr)
n.329+2806T>G
 gnomAD v4
6g.33443800A>GCA363632389SYNGAP1,SYNGAP1-AS1c.2990A>G (p.Lys997Arg)
c.3248A>G (p.Lys1083Arg)
c.3206A>G (p.Lys1069Arg)
c.3071A>G (p.Lys1024Arg)
c.3203A>G (p.Lys1068Arg)
n.329+2806T>C
6g.33443800A>TCA363632388SYNGAP1,SYNGAP1-AS1c.2990A>T (p.Lys997Ile)
c.3248A>T (p.Lys1083Ile)
c.3206A>T (p.Lys1069Ile)
c.3071A>T (p.Lys1024Ile)
c.3203A>T (p.Lys1068Ile)
n.329+2806T>A
6g.33443801A>CCA363632391SYNGAP1,SYNGAP1-AS1c.2991A>C (p.Lys997Asn)
c.3249A>C (p.Lys1083Asn)
c.3207A>C (p.Lys1069Asn)
c.3072A>C (p.Lys1024Asn)
c.3204A>C (p.Lys1068Asn)
n.329+2805T>G
6g.33443801A>GCA449836179SYNGAP1,SYNGAP1-AS1c.2991A>G (p.Lys997=)
c.3249A>G (p.Lys1083=)
c.3207A>G (p.Lys1069=)
c.3072A>G (p.Lys1024=)
c.3204A>G (p.Lys1068=)
n.329+2805T>C
6g.33443801A>TCA363632394SYNGAP1,SYNGAP1-AS1c.2991A>T (p.Lys997Asn)
c.3249A>T (p.Lys1083Asn)
c.3207A>T (p.Lys1069Asn)
c.3072A>T (p.Lys1024Asn)
c.3204A>T (p.Lys1068Asn)
n.329+2805T>A
6g.33443802C>ACA363632400SYNGAP1,SYNGAP1-AS1c.2992C>A (p.Pro998Thr)
c.3250C>A (p.Pro1084Thr)
c.3208C>A (p.Pro1070Thr)
c.3073C>A (p.Pro1025Thr)
c.3205C>A (p.Pro1069Thr)
n.329+2804G>T
 gnomAD v4
6g.33443802C=CA1620014799SYNGAP1,SYNGAP1-AS1c.2992C= (p.Pro998=)
c.3250C= (p.Pro1084=)
c.3208C= (p.Pro1070=)
c.3073C= (p.Pro1025=)
c.3205C= (p.Pro1069=)
n.329+2804G=
6g.33443802C>GCA363632403SYNGAP1,SYNGAP1-AS1c.2992C>G (p.Pro998Ala)
c.3250C>G (p.Pro1084Ala)
c.3208C>G (p.Pro1070Ala)
c.3073C>G (p.Pro1025Ala)
c.3205C>G (p.Pro1069Ala)
n.329+2804G>C
 ClinVar dbSNP
6g.33443802C>TCA363632407SYNGAP1,SYNGAP1-AS1c.2992C>T (p.Pro998Ser)
c.3250C>T (p.Pro1084Ser)
c.3208C>T (p.Pro1070Ser)
c.3073C>T (p.Pro1025Ser)
c.3205C>T (p.Pro1069Ser)
n.329+2804G>A
 gnomAD v4
6g.33443805delCA658761550SYNGAP1,SYNGAP1-AS1c.2995del (p.Arg999GlyfsTer?)
c.3253del (p.Arg1085GlyfsTer?)
c.3211del (p.Arg1071GlyfsTer?)
c.3076del (p.Arg1026GlyfsTer?)
c.3208del (p.Arg1070GlyfsTer?)
n.329+2804del
 gnomAD v4
6g.33443803C>ACA363632410SYNGAP1,SYNGAP1-AS1c.2993C>A (p.Pro998His)
c.3251C>A (p.Pro1084His)
c.3209C>A (p.Pro1070His)
c.3074C>A (p.Pro1025His)
c.3206C>A (p.Pro1069His)
n.329+2803G>T
 ClinVar gnomAD v4
6g.33443803C>GCA363632411SYNGAP1,SYNGAP1-AS1c.2993C>G (p.Pro998Arg)
c.3251C>G (p.Pro1084Arg)
c.3209C>G (p.Pro1070Arg)
c.3074C>G (p.Pro1025Arg)
c.3206C>G (p.Pro1069Arg)
n.329+2803G>C
 gnomAD v4
6g.33443803C>TCA363632412SYNGAP1,SYNGAP1-AS1c.2993C>T (p.Pro998Leu)
c.3251C>T (p.Pro1084Leu)
c.3209C>T (p.Pro1070Leu)
c.3074C>T (p.Pro1025Leu)
c.3206C>T (p.Pro1069Leu)
n.329+2803G>A
 gnomAD v4
6g.33443804C>ACA449836180SYNGAP1,SYNGAP1-AS1c.2994C>A (p.Pro998=)
c.3252C>A (p.Pro1084=)
c.3210C>A (p.Pro1070=)
c.3075C>A (p.Pro1025=)
c.3207C>A (p.Pro1069=)
n.329+2802G>T
 gnomAD v4
6g.33443804C>GCA449836182SYNGAP1,SYNGAP1-AS1c.2994C>G (p.Pro998=)
c.3252C>G (p.Pro1084=)
c.3210C>G (p.Pro1070=)
c.3075C>G (p.Pro1025=)
c.3207C>G (p.Pro1069=)
n.329+2802G>C
 gnomAD v4
6g.33443804C>TCA449836181SYNGAP1,SYNGAP1-AS1c.2994C>T (p.Pro998=)
c.3252C>T (p.Pro1084=)
c.3210C>T (p.Pro1070=)
c.3075C>T (p.Pro1025=)
c.3207C>T (p.Pro1069=)
n.329+2802G>A
 gnomAD v4
6g.33443805C>ACA449836183SYNGAP1,SYNGAP1-AS1c.2995C>A (p.Arg999=)
c.3253C>A (p.Arg1085=)
c.3211C>A (p.Arg1071=)
c.3076C>A (p.Arg1026=)
c.3208C>A (p.Arg1070=)
n.329+2801G>T
 gnomAD v4
6g.33443805C=CA1620014800SYNGAP1,SYNGAP1-AS1c.2995C= (p.Arg999=)
c.3253C= (p.Arg1085=)
c.3211C= (p.Arg1071=)
c.3076C= (p.Arg1026=)
c.3208C= (p.Arg1070=)
n.329+2801G=
6g.33443805C>GCA363632413SYNGAP1,SYNGAP1-AS1c.2995C>G (p.Arg999Gly)
c.3253C>G (p.Arg1085Gly)
c.3211C>G (p.Arg1071Gly)
c.3076C>G (p.Arg1026Gly)
c.3208C>G (p.Arg1070Gly)
n.329+2801G>C
 gnomAD v4
6g.33443805C>TCA363632414SYNGAP1,SYNGAP1-AS1c.2995C>T (p.Arg999Trp)
c.3253C>T (p.Arg1085Trp)
c.3211C>T (p.Arg1071Trp)
c.3076C>T (p.Arg1026Trp)
c.3208C>T (p.Arg1070Trp)
n.329+2801G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.33443806G>ACA137073508SYNGAP1,SYNGAP1-AS1c.2996G>A (p.Arg999Gln)
c.3254G>A (p.Arg1085Gln)
c.3212G>A (p.Arg1071Gln)
c.3077G>A (p.Arg1026Gln)
c.3209G>A (p.Arg1070Gln)
n.329+2800C>T
 ClinVar dbSNP gnomAD v4
6g.33443806G>CCA363632415SYNGAP1,SYNGAP1-AS1c.2996G>C (p.Arg999Pro)
c.3254G>C (p.Arg1085Pro)
c.3212G>C (p.Arg1071Pro)
c.3077G>C (p.Arg1026Pro)
c.3209G>C (p.Arg1070Pro)
n.329+2800C>G
6g.33443806G=CA1620014801SYNGAP1,SYNGAP1-AS1c.2996G= (p.Arg999=)
c.3254G= (p.Arg1085=)
c.3212G= (p.Arg1071=)
c.3077G= (p.Arg1026=)
c.3209G= (p.Arg1070=)
n.329+2800C=
6g.33443806G>TCA363632417SYNGAP1,SYNGAP1-AS1c.2996G>T (p.Arg999Leu)
c.3254G>T (p.Arg1085Leu)
c.3212G>T (p.Arg1071Leu)
c.3077G>T (p.Arg1026Leu)
c.3209G>T (p.Arg1070Leu)
n.329+2800C>A
6g.33443807G>ACA3759006SYNGAP1,SYNGAP1-AS1c.2997G>A (p.Arg999=)
c.3255G>A (p.Arg1085=)
c.3213G>A (p.Arg1071=)
c.3078G>A (p.Arg1026=)
c.3210G>A (p.Arg1070=)
n.329+2799C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6g.33443807G>CCA449836187SYNGAP1,SYNGAP1-AS1c.2997G>C (p.Arg999=)
c.3255G>C (p.Arg1085=)
c.3213G>C (p.Arg1071=)
c.3078G>C (p.Arg1026=)
c.3210G>C (p.Arg1070=)
n.329+2799C>G
6g.33443807G=CA1620014802SYNGAP1,SYNGAP1-AS1c.2997G= (p.Arg999=)
c.3255G= (p.Arg1085=)
c.3213G= (p.Arg1071=)
c.3078G= (p.Arg1026=)
c.3210G= (p.Arg1070=)
n.329+2799C=
6g.33443807G>TCA449836188SYNGAP1,SYNGAP1-AS1c.2997G>T (p.Arg999=)
c.3255G>T (p.Arg1085=)
c.3213G>T (p.Arg1071=)
c.3078G>T (p.Arg1026=)
c.3210G>T (p.Arg1070=)
n.329+2799C>A
6g.33443808C>ACA363632422SYNGAP1,SYNGAP1-AS1c.2998C>A (p.Pro1000Thr)
c.3256C>A (p.Pro1086Thr)
c.3214C>A (p.Pro1072Thr)
c.3079C>A (p.Pro1027Thr)
c.3211C>A (p.Pro1071Thr)
n.329+2798G>T
 gnomAD v4
6g.33443808C>GCA363632423SYNGAP1,SYNGAP1-AS1c.2998C>G (p.Pro1000Ala)
c.3256C>G (p.Pro1086Ala)
c.3214C>G (p.Pro1072Ala)
c.3079C>G (p.Pro1027Ala)
c.3211C>G (p.Pro1071Ala)
n.329+2798G>C
6g.33443808C>TCA363632420SYNGAP1,SYNGAP1-AS1c.2998C>T (p.Pro1000Ser)
c.3256C>T (p.Pro1086Ser)
c.3214C>T (p.Pro1072Ser)
c.3079C>T (p.Pro1027Ser)
c.3211C>T (p.Pro1071Ser)
n.329+2798G>A
 gnomAD v4
6g.33443809C>ACA363632425SYNGAP1,SYNGAP1-AS1c.2999C>A (p.Pro1000Gln)
c.3257C>A (p.Pro1086Gln)
c.3215C>A (p.Pro1072Gln)
c.3080C>A (p.Pro1027Gln)
c.3212C>A (p.Pro1071Gln)
n.329+2797G>T
 gnomAD v4
6g.33443809C>GCA363632431SYNGAP1,SYNGAP1-AS1c.2999C>G (p.Pro1000Arg)
c.3257C>G (p.Pro1086Arg)
c.3215C>G (p.Pro1072Arg)
c.3080C>G (p.Pro1027Arg)
c.3212C>G (p.Pro1071Arg)
n.329+2797G>C
6g.33443809C>TCA363632435SYNGAP1,SYNGAP1-AS1c.2999C>T (p.Pro1000Leu)
c.3257C>T (p.Pro1086Leu)
c.3215C>T (p.Pro1072Leu)
c.3080C>T (p.Pro1027Leu)
c.3212C>T (p.Pro1071Leu)
n.329+2797G>A
6g.33443810A>CCA449836190SYNGAP1,SYNGAP1-AS1c.3000A>C (p.Pro1000=)
c.3258A>C (p.Pro1086=)
c.3216A>C (p.Pro1072=)
c.3081A>C (p.Pro1027=)
c.3213A>C (p.Pro1071=)
n.329+2796T>G
6g.33443810A>GCA449836191SYNGAP1,SYNGAP1-AS1c.3000A>G (p.Pro1000=)
c.3258A>G (p.Pro1086=)
c.3216A>G (p.Pro1072=)
c.3081A>G (p.Pro1027=)
c.3213A>G (p.Pro1071=)
n.329+2796T>C
6g.33443810A>TCA449836192SYNGAP1,SYNGAP1-AS1c.3000A>T (p.Pro1000=)
c.3258A>T (p.Pro1086=)
c.3216A>T (p.Pro1072=)
c.3081A>T (p.Pro1027=)
c.3213A>T (p.Pro1071=)
n.329+2796T>A
6g.33443811T>ACA363632446SYNGAP1,SYNGAP1-AS1c.3001T>A (p.Ser1001Thr)
c.3259T>A (p.Ser1087Thr)
c.3217T>A (p.Ser1073Thr)
c.3082T>A (p.Ser1028Thr)
c.3214T>A (p.Ser1072Thr)
n.329+2795A>T
6g.33443811T>CCA363632448SYNGAP1,SYNGAP1-AS1c.3001T>C (p.Ser1001Pro)
c.3259T>C (p.Ser1087Pro)
c.3217T>C (p.Ser1073Pro)
c.3082T>C (p.Ser1028Pro)
c.3214T>C (p.Ser1072Pro)
n.329+2795A>G
 gnomAD v4
6g.33443811T>GCA363632450SYNGAP1,SYNGAP1-AS1c.3001T>G (p.Ser1001Ala)
c.3259T>G (p.Ser1087Ala)
c.3217T>G (p.Ser1073Ala)
c.3082T>G (p.Ser1028Ala)
c.3214T>G (p.Ser1072Ala)
n.329+2795A>C
6g.33443812C>ACA363632453SYNGAP1,SYNGAP1-AS1c.3002C>A (p.Ser1001Tyr)
c.3260C>A (p.Ser1087Tyr)
c.3218C>A (p.Ser1073Tyr)
c.3083C>A (p.Ser1028Tyr)
c.3215C>A (p.Ser1072Tyr)
n.329+2794G>T
 gnomAD v4
6g.33443812C>GCA363632456SYNGAP1,SYNGAP1-AS1c.3002C>G (p.Ser1001Cys)
c.3260C>G (p.Ser1087Cys)
c.3218C>G (p.Ser1073Cys)
c.3083C>G (p.Ser1028Cys)
c.3215C>G (p.Ser1072Cys)
n.329+2794G>C
 gnomAD v4
6g.33443812C>TCA363632466SYNGAP1,SYNGAP1-AS1c.3002C>T (p.Ser1001Phe)
c.3260C>T (p.Ser1087Phe)
c.3218C>T (p.Ser1073Phe)
c.3083C>T (p.Ser1028Phe)
c.3215C>T (p.Ser1072Phe)
n.329+2794G>A
 ClinVar
6g.33443813C>ACA449836194SYNGAP1,SYNGAP1-AS1c.3003C>A (p.Ser1001=)
c.3261C>A (p.Ser1087=)
c.3219C>A (p.Ser1073=)
c.3084C>A (p.Ser1028=)
c.3216C>A (p.Ser1072=)
n.329+2793G>T
 gnomAD v4
6g.33443813C>GCA449836196SYNGAP1,SYNGAP1-AS1c.3003C>G (p.Ser1001=)
c.3261C>G (p.Ser1087=)
c.3219C>G (p.Ser1073=)
c.3084C>G (p.Ser1028=)
c.3216C>G (p.Ser1072=)
n.329+2793G>C
6g.33443813C>TCA449836197SYNGAP1,SYNGAP1-AS1c.3003C>T (p.Ser1001=)
c.3261C>T (p.Ser1087=)
c.3219C>T (p.Ser1073=)
c.3084C>T (p.Ser1028=)
c.3216C>T (p.Ser1072=)
n.329+2793G>A
6g.33443814A>CCA363632470SYNGAP1,SYNGAP1-AS1c.3004A>C (p.Ser1002Arg)
c.3262A>C (p.Ser1088Arg)
c.3220A>C (p.Ser1074Arg)
c.3085A>C (p.Ser1029Arg)
c.3217A>C (p.Ser1073Arg)
n.329+2792T>G
6g.33443814A>GCA363632472SYNGAP1,SYNGAP1-AS1c.3004A>G (p.Ser1002Gly)
c.3262A>G (p.Ser1088Gly)
c.3220A>G (p.Ser1074Gly)
c.3085A>G (p.Ser1029Gly)
c.3217A>G (p.Ser1073Gly)
n.329+2792T>C
 ClinVar
6g.33443814A>TCA363632474SYNGAP1,SYNGAP1-AS1c.3004A>T (p.Ser1002Cys)
c.3262A>T (p.Ser1088Cys)
c.3220A>T (p.Ser1074Cys)
c.3085A>T (p.Ser1029Cys)
c.3217A>T (p.Ser1073Cys)
n.329+2792T>A
6g.33443815G>ACA363632482SYNGAP1,SYNGAP1-AS1c.3005G>A (p.Ser1002Asn)
c.3263G>A (p.Ser1088Asn)
c.3221G>A (p.Ser1074Asn)
c.3086G>A (p.Ser1029Asn)
c.3218G>A (p.Ser1073Asn)
n.329+2791C>T
6g.33443815G>CCA363632480SYNGAP1,SYNGAP1-AS1c.3005G>C (p.Ser1002Thr)
c.3263G>C (p.Ser1088Thr)
c.3221G>C (p.Ser1074Thr)
c.3086G>C (p.Ser1029Thr)
c.3218G>C (p.Ser1073Thr)
n.329+2791C>G
6g.33443815G>TCA363632478SYNGAP1,SYNGAP1-AS1c.3005G>T (p.Ser1002Ile)
c.3263G>T (p.Ser1088Ile)
c.3221G>T (p.Ser1074Ile)
c.3086G>T (p.Ser1029Ile)
c.3218G>T (p.Ser1073Ile)
n.329+2791C>A
 gnomAD v4 COSMIC COSMIC
6g.33443816delCA2739289867SYNGAP1,SYNGAP1-AS1c.3006del (p.Ser1002ArgfsTer?)
c.3264del (p.Ser1088ArgfsTer?)
c.3222del (p.Ser1074ArgfsTer?)
c.3087del (p.Ser1029ArgfsTer?)
c.3219del (p.Ser1073ArgfsTer?)
n.329+2790del
6g.33443816C>ACA363632485SYNGAP1,SYNGAP1-AS1c.3006C>A (p.Ser1002Arg)
c.3264C>A (p.Ser1088Arg)
c.3222C>A (p.Ser1074Arg)
c.3087C>A (p.Ser1029Arg)
c.3219C>A (p.Ser1073Arg)
n.329+2790G>T
 gnomAD v4
6g.33443816C=CA1620014803SYNGAP1,SYNGAP1-AS1c.3006C= (p.Ser1002=)
c.3264C= (p.Ser1088=)
c.3222C= (p.Ser1074=)
c.3087C= (p.Ser1029=)
c.3219C= (p.Ser1073=)
n.329+2790G=
6g.33443816C>GCA363632487SYNGAP1,SYNGAP1-AS1c.3006C>G (p.Ser1002Arg)
c.3264C>G (p.Ser1088Arg)
c.3222C>G (p.Ser1074Arg)
c.3087C>G (p.Ser1029Arg)
c.3219C>G (p.Ser1073Arg)
n.329+2790G>C
6g.33443816C>TCA3759007SYNGAP1,SYNGAP1-AS1c.3006C>T (p.Ser1002=)
c.3264C>T (p.Ser1088=)
c.3222C>T (p.Ser1074=)
c.3087C>T (p.Ser1029=)
c.3219C>T (p.Ser1073=)
n.329+2790G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.33443817G>ACA363632488SYNGAP1,SYNGAP1-AS1c.3007G>A (p.Gly1003Arg)
c.3265G>A (p.Gly1089Arg)
c.3223G>A (p.Gly1075Arg)
c.3088G>A (p.Gly1030Arg)
c.3220G>A (p.Gly1074Arg)
n.329+2789C>T
 gnomAD v4
6g.33443817G>CCA363632489SYNGAP1,SYNGAP1-AS1c.3007G>C (p.Gly1003Arg)
c.3265G>C (p.Gly1089Arg)
c.3223G>C (p.Gly1075Arg)
c.3088G>C (p.Gly1030Arg)
c.3220G>C (p.Gly1074Arg)
n.329+2789C>G
6g.33443817G>TCA363632490SYNGAP1,SYNGAP1-AS1c.3007G>T (p.Gly1003Trp)
c.3265G>T (p.Gly1089Trp)
c.3223G>T (p.Gly1075Trp)
c.3088G>T (p.Gly1030Trp)
c.3220G>T (p.Gly1074Trp)
n.329+2789C>A
6g.33443817_33443826dupCA2580074398SYNGAP1,SYNGAP1-AS1c.3007_3016dup (p.Leu1006TrpfsTer?)
c.3265_3274dup (p.Leu1092TrpfsTer?)
c.3223_3232dup (p.Leu1078TrpfsTer?)
c.3088_3097dup (p.Leu1033TrpfsTer?)
c.3220_3229dup (p.Leu1077TrpfsTer?)
n.329+2780_329+2789dup
 ClinVar
6g.33443818G>ACA363632492SYNGAP1,SYNGAP1-AS1c.3008G>A (p.Gly1003Glu)
c.3266G>A (p.Gly1089Glu)
c.3224G>A (p.Gly1075Glu)
c.3089G>A (p.Gly1030Glu)
c.3221G>A (p.Gly1074Glu)
n.329+2788C>T
6g.33443818G>CCA363632493SYNGAP1,SYNGAP1-AS1c.3008G>C (p.Gly1003Ala)
c.3266G>C (p.Gly1089Ala)
c.3224G>C (p.Gly1075Ala)
c.3089G>C (p.Gly1030Ala)
c.3221G>C (p.Gly1074Ala)
n.329+2788C>G
6g.33443818G>TCA363632495SYNGAP1,SYNGAP1-AS1c.3008G>T (p.Gly1003Val)
c.3266G>T (p.Gly1089Val)
c.3224G>T (p.Gly1075Val)
c.3089G>T (p.Gly1030Val)
c.3221G>T (p.Gly1074Val)
n.329+2788C>A
6g.33443819G>ACA449836202SYNGAP1,SYNGAP1-AS1c.3009G>A (p.Gly1003=)
c.3267G>A (p.Gly1089=)
c.3225G>A (p.Gly1075=)
c.3090G>A (p.Gly1030=)
c.3222G>A (p.Gly1074=)
n.329+2787C>T
6g.33443819G>CCA449836203SYNGAP1,SYNGAP1-AS1c.3009G>C (p.Gly1003=)
c.3267G>C (p.Gly1089=)
c.3225G>C (p.Gly1075=)
c.3090G>C (p.Gly1030=)
c.3222G>C (p.Gly1074=)
n.329+2787C>G
6g.33443819G>TCA449836204SYNGAP1,SYNGAP1-AS1c.3009G>T (p.Gly1003=)
c.3267G>T (p.Gly1089=)
c.3225G>T (p.Gly1075=)
c.3090G>T (p.Gly1030=)
c.3222G>T (p.Gly1074=)
n.329+2787C>A
6g.33443820A>CCA363632498SYNGAP1,SYNGAP1-AS1c.3010A>C (p.Asn1004His)
c.3268A>C (p.Asn1090His)
c.3226A>C (p.Asn1076His)
c.3091A>C (p.Asn1031His)
c.3223A>C (p.Asn1075His)
n.329+2786T>G
6g.33443820A>GCA363632500SYNGAP1,SYNGAP1-AS1c.3010A>G (p.Asn1004Asp)
c.3268A>G (p.Asn1090Asp)
c.3226A>G (p.Asn1076Asp)
c.3091A>G (p.Asn1031Asp)
c.3223A>G (p.Asn1075Asp)
n.329+2786T>C
6g.33443820A>TCA363632503SYNGAP1,SYNGAP1-AS1c.3010A>T (p.Asn1004Tyr)
c.3268A>T (p.Asn1090Tyr)
c.3226A>T (p.Asn1076Tyr)
c.3091A>T (p.Asn1031Tyr)
c.3223A>T (p.Asn1075Tyr)
n.329+2786T>A
6g.33443821dupCA2499218231SYNGAP1,SYNGAP1-AS1c.3011dup (p.Asn1004LysfsTer?)
c.3269dup (p.Asn1090LysfsTer?)
c.3227dup (p.Asn1076LysfsTer?)
c.3092dup (p.Asn1031LysfsTer?)
c.3224dup (p.Asn1075LysfsTer?)
n.329+2786dup
 ClinVar dbSNP
6g.33443821A>CCA363632506SYNGAP1,SYNGAP1-AS1c.3011A>C (p.Asn1004Thr)
c.3269A>C (p.Asn1090Thr)
c.3227A>C (p.Asn1076Thr)
c.3092A>C (p.Asn1031Thr)
c.3224A>C (p.Asn1075Thr)
n.329+2785T>G
6g.33443821A>GCA363632512SYNGAP1,SYNGAP1-AS1c.3011A>G (p.Asn1004Ser)
c.3269A>G (p.Asn1090Ser)
c.3227A>G (p.Asn1076Ser)
c.3092A>G (p.Asn1031Ser)
c.3224A>G (p.Asn1075Ser)
n.329+2785T>C
6g.33443821A>TCA363632509SYNGAP1,SYNGAP1-AS1c.3011A>T (p.Asn1004Ile)
c.3269A>T (p.Asn1090Ile)
c.3227A>T (p.Asn1076Ile)
c.3092A>T (p.Asn1031Ile)
c.3224A>T (p.Asn1075Ile)
n.329+2785T>A
6g.33443822T>ACA363632516SYNGAP1,SYNGAP1-AS1c.3012T>A (p.Asn1004Lys)
c.3270T>A (p.Asn1090Lys)
c.3228T>A (p.Asn1076Lys)
c.3093T>A (p.Asn1031Lys)
c.3225T>A (p.Asn1075Lys)
n.329+2784A>T
 gnomAD v4
6g.33443822T>CCA449836205SYNGAP1,SYNGAP1-AS1c.3012T>C (p.Asn1004=)
c.3270T>C (p.Asn1090=)
c.3228T>C (p.Asn1076=)
c.3093T>C (p.Asn1031=)
c.3225T>C (p.Asn1075=)
n.329+2784A>G
 gnomAD v4
6g.33443822T>GCA363632518SYNGAP1,SYNGAP1-AS1c.3012T>G (p.Asn1004Lys)
c.3270T>G (p.Asn1090Lys)
c.3228T>G (p.Asn1076Lys)
c.3093T>G (p.Asn1031Lys)
c.3225T>G (p.Asn1075Lys)
n.329+2784A>C
6g.33443823C>ACA363632520SYNGAP1,SYNGAP1-AS1c.3013C>A (p.Leu1005Ile)
c.3271C>A (p.Leu1091Ile)
c.3229C>A (p.Leu1077Ile)
c.3094C>A (p.Leu1032Ile)
c.3226C>A (p.Leu1076Ile)
n.329+2783G>T
 gnomAD v4
6g.33443823C=CA1620014804SYNGAP1,SYNGAP1-AS1c.3013C= (p.Leu1005=)
c.3271C= (p.Leu1091=)
c.3229C= (p.Leu1077=)
c.3094C= (p.Leu1032=)
c.3226C= (p.Leu1076=)
n.329+2783G=
6g.33443823C>GCA363632522SYNGAP1,SYNGAP1-AS1c.3013C>G (p.Leu1005Val)
c.3271C>G (p.Leu1091Val)
c.3229C>G (p.Leu1077Val)
c.3094C>G (p.Leu1032Val)
c.3226C>G (p.Leu1076Val)
n.329+2783G>C
6g.33443823C>TCA449836206SYNGAP1,SYNGAP1-AS1c.3013C>T (p.Leu1005=)
c.3271C>T (p.Leu1091=)
c.3229C>T (p.Leu1077=)
c.3094C>T (p.Leu1032=)
c.3226C>T (p.Leu1076=)
n.329+2783G>A
 dbSNP gnomAD v2 gnomAD v4
6g.33443824T>ACA363632525SYNGAP1,SYNGAP1-AS1c.3014T>A (p.Leu1005Gln)
c.3272T>A (p.Leu1091Gln)
c.3230T>A (p.Leu1077Gln)
c.3095T>A (p.Leu1032Gln)
c.3227T>A (p.Leu1076Gln)
n.329+2782A>T
6g.33443824T>CCA363632526SYNGAP1,SYNGAP1-AS1c.3014T>C (p.Leu1005Pro)
c.3272T>C (p.Leu1091Pro)
c.3230T>C (p.Leu1077Pro)
c.3095T>C (p.Leu1032Pro)
c.3227T>C (p.Leu1076Pro)
n.329+2782A>G
 gnomAD v4
6g.33443824T>GCA363632529SYNGAP1,SYNGAP1-AS1c.3014T>G (p.Leu1005Arg)
c.3272T>G (p.Leu1091Arg)
c.3230T>G (p.Leu1077Arg)
c.3095T>G (p.Leu1032Arg)
c.3227T>G (p.Leu1076Arg)
n.329+2782A>C
6g.33443824dupCA2695206226SYNGAP1,SYNGAP1-AS1c.3014dup (p.Leu1006IlefsTer?)
c.3272dup (p.Leu1092IlefsTer?)
c.3230dup (p.Leu1078IlefsTer?)
c.3095dup (p.Leu1033IlefsTer?)
c.3227dup (p.Leu1077IlefsTer?)
n.329+2782dup
6g.33443825_33443826delCA2770567268SYNGAP1,SYNGAP1-AS1c.3015_3016del (p.Leu1006AlafsTer?)
c.3273_3274del (p.Leu1092AlafsTer?)
c.3231_3232del (p.Leu1078AlafsTer?)
c.3096_3097del (p.Leu1033AlafsTer?)
c.3228_3229del (p.Leu1077AlafsTer?)
n.329+2781_329+2782del
6g.33443825A=CA1620014805SYNGAP1,SYNGAP1-AS1c.3015A= (p.Leu1005=)
c.3273A= (p.Leu1091=)
c.3231A= (p.Leu1077=)
c.3096A= (p.Leu1032=)
c.3228A= (p.Leu1076=)
n.329+2781T=
6g.33443825A>CCA449836210SYNGAP1,SYNGAP1-AS1c.3015A>C (p.Leu1005=)
c.3273A>C (p.Leu1091=)
c.3231A>C (p.Leu1077=)
c.3096A>C (p.Leu1032=)
c.3228A>C (p.Leu1076=)
n.329+2781T>G
6g.33443825A>GCA3759008SYNGAP1,SYNGAP1-AS1c.3015A>G (p.Leu1005=)
c.3273A>G (p.Leu1091=)
c.3231A>G (p.Leu1077=)
c.3096A>G (p.Leu1032=)
c.3228A>G (p.Leu1076=)
n.329+2781T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.33443825A>TCA449836209SYNGAP1,SYNGAP1-AS1c.3015A>T (p.Leu1005=)
c.3273A>T (p.Leu1091=)
c.3231A>T (p.Leu1077=)
c.3096A>T (p.Leu1032=)
c.3228A>T (p.Leu1076=)
n.329+2781T>A
 gnomAD v4
6g.33443826T>ACA363632546SYNGAP1,SYNGAP1-AS1c.3016T>A (p.Leu1006Met)
c.3274T>A (p.Leu1092Met)
c.3232T>A (p.Leu1078Met)
c.3097T>A (p.Leu1033Met)
c.3229T>A (p.Leu1077Met)
n.329+2780A>T
6g.33443826T>CCA449836211SYNGAP1,SYNGAP1-AS1c.3016T>C (p.Leu1006=)
c.3274T>C (p.Leu1092=)
c.3232T>C (p.Leu1078=)
c.3097T>C (p.Leu1033=)
c.3229T>C (p.Leu1077=)
n.329+2780A>G
 dbSNP gnomAD v2 gnomAD v4
6g.33443826T>GCA363632547SYNGAP1,SYNGAP1-AS1c.3016T>G (p.Leu1006Val)
c.3274T>G (p.Leu1092Val)
c.3232T>G (p.Leu1078Val)
c.3097T>G (p.Leu1033Val)
c.3229T>G (p.Leu1077Val)
n.329+2780A>C
6g.33443826T=CA1620014806SYNGAP1,SYNGAP1-AS1c.3016T= (p.Leu1006=)
c.3274T= (p.Leu1092=)
c.3232T= (p.Leu1078=)
c.3097T= (p.Leu1033=)
c.3229T= (p.Leu1077=)
n.329+2780A=
6g.33443827T>ACA363632552SYNGAP1,SYNGAP1-AS1c.3017T>A (p.Leu1006Ter)
c.3275T>A (p.Leu1092Ter)
c.3233T>A (p.Leu1078Ter)
c.3098T>A (p.Leu1033Ter)
c.3230T>A (p.Leu1077Ter)
n.329+2779A>T
 dbSNP
6g.33443827T>CCA363632555SYNGAP1,SYNGAP1-AS1c.3017T>C (p.Leu1006Ser)
c.3275T>C (p.Leu1092Ser)
c.3233T>C (p.Leu1078Ser)
c.3098T>C (p.Leu1033Ser)
c.3230T>C (p.Leu1077Ser)
n.329+2779A>G
6g.33443827T>GCA363632556SYNGAP1,SYNGAP1-AS1c.3017T>G (p.Leu1006Trp)
c.3275T>G (p.Leu1092Trp)
c.3233T>G (p.Leu1078Trp)
c.3098T>G (p.Leu1033Trp)
c.3230T>G (p.Leu1077Trp)
n.329+2779A>C
6g.33443827T=CA1620014807SYNGAP1,SYNGAP1-AS1c.3017T= (p.Leu1006=)
c.3275T= (p.Leu1092=)
c.3233T= (p.Leu1078=)
c.3098T= (p.Leu1033=)
c.3230T= (p.Leu1077=)
n.329+2779A=
6g.33443828G>ACA449836212SYNGAP1,SYNGAP1-AS1c.3018G>A (p.Leu1006=)
c.3276G>A (p.Leu1092=)
c.3234G>A (p.Leu1078=)
c.3099G>A (p.Leu1033=)
c.3231G>A (p.Leu1077=)
n.329+2778C>T
 gnomAD v4
6g.33443828G>CCA363632560SYNGAP1,SYNGAP1-AS1c.3018G>C (p.Leu1006Phe)
c.3276G>C (p.Leu1092Phe)
c.3234G>C (p.Leu1078Phe)
c.3099G>C (p.Leu1033Phe)
c.3231G>C (p.Leu1077Phe)
n.329+2778C>G
 dbSNP gnomAD v3 gnomAD v4
6g.33443828G>TCA363632563SYNGAP1,SYNGAP1-AS1c.3018G>T (p.Leu1006Phe)
c.3276G>T (p.Leu1092Phe)
c.3234G>T (p.Leu1078Phe)
c.3099G>T (p.Leu1033Phe)
c.3231G>T (p.Leu1077Phe)
n.329+2778C>A
6g.33443829C>ACA363632577SYNGAP1,SYNGAP1-AS1c.3019C>A (p.Gln1007Lys)
c.3277C>A (p.Gln1093Lys)
c.3235C>A (p.Gln1079Lys)
c.3100C>A (p.Gln1034Lys)
c.3232C>A (p.Gln1078Lys)
n.329+2777G>T
 gnomAD v4
6g.33443829C=CA1620014808SYNGAP1,SYNGAP1-AS1c.3019C= (p.Gln1007=)
c.3277C= (p.Gln1093=)
c.3235C= (p.Gln1079=)
c.3100C= (p.Gln1034=)
c.3232C= (p.Gln1078=)
n.329+2777G=
6g.33443829C>GCA363632573SYNGAP1,SYNGAP1-AS1c.3019C>G (p.Gln1007Glu)
c.3277C>G (p.Gln1093Glu)
c.3235C>G (p.Gln1079Glu)
c.3100C>G (p.Gln1034Glu)
c.3232C>G (p.Gln1078Glu)
n.329+2777G>C
6g.33443829C>TCA363632570SYNGAP1,SYNGAP1-AS1c.3019C>T (p.Gln1007Ter)
c.3277C>T (p.Gln1093Ter)
c.3235C>T (p.Gln1079Ter)
c.3100C>T (p.Gln1034Ter)
c.3232C>T (p.Gln1078Ter)
n.329+2777G>A
 ClinVar dbSNP gnomAD v4
6g.33443830A>CCA363632579SYNGAP1,SYNGAP1-AS1c.3020A>C (p.Gln1007Pro)
c.3278A>C (p.Gln1093Pro)
c.3236A>C (p.Gln1079Pro)
c.3101A>C (p.Gln1034Pro)
c.3233A>C (p.Gln1078Pro)
n.329+2776T>G
6g.33443830A>GCA363632589SYNGAP1,SYNGAP1-AS1c.3020A>G (p.Gln1007Arg)
c.3278A>G (p.Gln1093Arg)
c.3236A>G (p.Gln1079Arg)
c.3101A>G (p.Gln1034Arg)
c.3233A>G (p.Gln1078Arg)
n.329+2776T>C
 gnomAD v4
6g.33443830A>TCA363632590SYNGAP1,SYNGAP1-AS1c.3020A>T (p.Gln1007Leu)
c.3278A>T (p.Gln1093Leu)
c.3236A>T (p.Gln1079Leu)
c.3101A>T (p.Gln1034Leu)
c.3233A>T (p.Gln1078Leu)
n.329+2776T>A
6g.33443831G>ACA449836213SYNGAP1,SYNGAP1-AS1c.3021G>A (p.Gln1007=)
c.3279G>A (p.Gln1093=)
c.3237G>A (p.Gln1079=)
c.3102G>A (p.Gln1034=)
c.3234G>A (p.Gln1078=)
n.329+2775C>T
 gnomAD v4
6g.33443831G>CCA363632592SYNGAP1,SYNGAP1-AS1c.3021G>C (p.Gln1007His)
c.3279G>C (p.Gln1093His)
c.3237G>C (p.Gln1079His)
c.3102G>C (p.Gln1034His)
c.3234G>C (p.Gln1078His)
n.329+2775C>G
6g.33443831G>TCA363632595SYNGAP1,SYNGAP1-AS1c.3021G>T (p.Gln1007His)
c.3279G>T (p.Gln1093His)
c.3237G>T (p.Gln1079His)
c.3102G>T (p.Gln1034His)
c.3234G>T (p.Gln1078His)
n.329+2775C>A
6g.33443832T>ACA363632598SYNGAP1,SYNGAP1-AS1c.3022T>A (p.Ser1008Thr)
c.3280T>A (p.Ser1094Thr)
c.3238T>A (p.Ser1080Thr)
c.3103T>A (p.Ser1035Thr)
c.3235T>A (p.Ser1079Thr)
n.329+2774A>T
6g.33443832T>CCA363632601SYNGAP1,SYNGAP1-AS1c.3022T>C (p.Ser1008Pro)
c.3280T>C (p.Ser1094Pro)
c.3238T>C (p.Ser1080Pro)
c.3103T>C (p.Ser1035Pro)
c.3235T>C (p.Ser1079Pro)
n.329+2774A>G
6g.33443832T>GCA363632605SYNGAP1,SYNGAP1-AS1c.3022T>G (p.Ser1008Ala)
c.3280T>G (p.Ser1094Ala)
c.3238T>G (p.Ser1080Ala)
c.3103T>G (p.Ser1035Ala)
c.3235T>G (p.Ser1079Ala)
n.329+2774A>C
6g.33443833C>ACA363632608SYNGAP1,SYNGAP1-AS1c.3023C>A (p.Ser1008Tyr)
c.3281C>A (p.Ser1094Tyr)
c.3239C>A (p.Ser1080Tyr)
c.3104C>A (p.Ser1035Tyr)
c.3236C>A (p.Ser1079Tyr)
n.329+2773G>T
 gnomAD v4
6g.33443833C>GCA363632613SYNGAP1,SYNGAP1-AS1c.3023C>G (p.Ser1008Cys)
c.3281C>G (p.Ser1094Cys)
c.3239C>G (p.Ser1080Cys)
c.3104C>G (p.Ser1035Cys)
c.3236C>G (p.Ser1079Cys)
n.329+2773G>C
6g.33443833C>TCA363632616SYNGAP1,SYNGAP1-AS1c.3023C>T (p.Ser1008Phe)
c.3281C>T (p.Ser1094Phe)
c.3239C>T (p.Ser1080Phe)
c.3104C>T (p.Ser1035Phe)
c.3236C>T (p.Ser1079Phe)
n.329+2773G>A
6g.33443834C>ACA449836214SYNGAP1,SYNGAP1-AS1c.3024C>A (p.Ser1008=)
c.3282C>A (p.Ser1094=)
c.3240C>A (p.Ser1080=)
c.3105C>A (p.Ser1035=)
c.3237C>A (p.Ser1079=)
n.329+2772G>T
6g.33443834C=CA1620014809SYNGAP1,SYNGAP1-AS1c.3024C= (p.Ser1008=)
c.3282C= (p.Ser1094=)
c.3240C= (p.Ser1080=)
c.3105C= (p.Ser1035=)
c.3237C= (p.Ser1079=)
n.329+2772G=
6g.33443834C>GCA449836215SYNGAP1,SYNGAP1-AS1c.3024C>G (p.Ser1008=)
c.3282C>G (p.Ser1094=)
c.3240C>G (p.Ser1080=)
c.3105C>G (p.Ser1035=)
c.3237C>G (p.Ser1079=)
n.329+2772G>C
6g.33443834C>TCA3759009SYNGAP1,SYNGAP1-AS1c.3024C>T (p.Ser1008=)
c.3282C>T (p.Ser1094=)
c.3240C>T (p.Ser1080=)
c.3105C>T (p.Ser1035=)
c.3237C>T (p.Ser1079=)
n.329+2772G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
6g.33443835C>ACA363632625SYNGAP1,SYNGAP1-AS1c.3025C>A (p.Pro1009Thr)
c.3283C>A (p.Pro1095Thr)
c.3241C>A (p.Pro1081Thr)
c.3106C>A (p.Pro1036Thr)
c.3238C>A (p.Pro1080Thr)
n.329+2771G>T
6g.33443835C=CA1620014810SYNGAP1,SYNGAP1-AS1c.3025C= (p.Pro1009=)
c.3283C= (p.Pro1095=)
c.3241C= (p.Pro1081=)
c.3106C= (p.Pro1036=)
c.3238C= (p.Pro1080=)
n.329+2771G=
6g.33443835C>GCA363632629SYNGAP1,SYNGAP1-AS1c.3025C>G (p.Pro1009Ala)
c.3283C>G (p.Pro1095Ala)
c.3241C>G (p.Pro1081Ala)
c.3106C>G (p.Pro1036Ala)
c.3238C>G (p.Pro1080Ala)
n.329+2771G>C
6g.33443835C>TCA363632623SYNGAP1,SYNGAP1-AS1c.3025C>T (p.Pro1009Ser)
c.3283C>T (p.Pro1095Ser)
c.3241C>T (p.Pro1081Ser)
c.3106C>T (p.Pro1036Ser)
c.3238C>T (p.Pro1080Ser)
n.329+2771G>A
 dbSNP gnomAD v3 gnomAD v4
6g.33443836C>ACA363632634SYNGAP1,SYNGAP1-AS1c.3026C>A (p.Pro1009Gln)
c.3284C>A (p.Pro1095Gln)
c.3242C>A (p.Pro1081Gln)
c.3107C>A (p.Pro1036Gln)
c.3239C>A (p.Pro1080Gln)
n.329+2770G>T
6g.33443836C=CA1620014811SYNGAP1,SYNGAP1-AS1c.3026C= (p.Pro1009=)
c.3284C= (p.Pro1095=)
c.3242C= (p.Pro1081=)
c.3107C= (p.Pro1036=)
c.3239C= (p.Pro1080=)
n.329+2770G=
6g.33443836C>GCA363632638SYNGAP1,SYNGAP1-AS1c.3026C>G (p.Pro1009Arg)
c.3284C>G (p.Pro1095Arg)
c.3242C>G (p.Pro1081Arg)
c.3107C>G (p.Pro1036Arg)
c.3239C>G (p.Pro1080Arg)
n.329+2770G>C
6g.33443836C>TCA363632641SYNGAP1,SYNGAP1-AS1c.3026C>T (p.Pro1009Leu)
c.3284C>T (p.Pro1095Leu)
c.3242C>T (p.Pro1081Leu)
c.3107C>T (p.Pro1036Leu)
c.3239C>T (p.Pro1080Leu)
n.329+2770G>A
 dbSNP gnomAD v2 gnomAD v4
6g.33443837A=CA1620014812SYNGAP1,SYNGAP1-AS1c.3027A= (p.Pro1009=)
c.3285A= (p.Pro1095=)
c.3243A= (p.Pro1081=)
c.3108A= (p.Pro1036=)
c.3240A= (p.Pro1080=)
n.329+2769T=
6g.33443837A>CCA449836216SYNGAP1,SYNGAP1-AS1c.3027A>C (p.Pro1009=)
c.3285A>C (p.Pro1095=)
c.3243A>C (p.Pro1081=)
c.3108A>C (p.Pro1036=)
c.3240A>C (p.Pro1080=)
n.329+2769T>G
6g.33443837A>GCA449836217SYNGAP1,SYNGAP1-AS1c.3027A>G (p.Pro1009=)
c.3285A>G (p.Pro1095=)
c.3243A>G (p.Pro1081=)
c.3108A>G (p.Pro1036=)
c.3240A>G (p.Pro1080=)
n.329+2769T>C
6g.33443837A>TCA449836218SYNGAP1,SYNGAP1-AS1c.3027A>T (p.Pro1009=)
c.3285A>T (p.Pro1095=)
c.3243A>T (p.Pro1081=)
c.3108A>T (p.Pro1036=)
c.3240A>T (p.Pro1080=)
n.329+2769T>A
 dbSNP gnomAD v2
6g.33443838G>ACA363632645SYNGAP1,SYNGAP1-AS1c.3028G>A (p.Glu1010Lys)
c.3286G>A (p.Glu1096Lys)
c.3244G>A (p.Glu1082Lys)
c.3109G>A (p.Glu1037Lys)
c.3241G>A (p.Glu1081Lys)
n.329+2768C>T
6g.33443838G>CCA363632649SYNGAP1,SYNGAP1-AS1c.3028G>C (p.Glu1010Gln)
c.3286G>C (p.Glu1096Gln)
c.3244G>C (p.Glu1082Gln)
c.3109G>C (p.Glu1037Gln)
c.3241G>C (p.Glu1081Gln)
n.329+2768C>G
6g.33443838G=CA1620014813SYNGAP1,SYNGAP1-AS1c.3028G= (p.Glu1010=)
c.3286G= (p.Glu1096=)
c.3244G= (p.Glu1082=)
c.3109G= (p.Glu1037=)
c.3241G= (p.Glu1081=)
n.329+2768C=
6g.33443838G>TCA363632651SYNGAP1,SYNGAP1-AS1c.3028G>T (p.Glu1010Ter)
c.3286G>T (p.Glu1096Ter)
c.3244G>T (p.Glu1082Ter)
c.3109G>T (p.Glu1037Ter)
c.3241G>T (p.Glu1081Ter)
n.329+2768C>A
 dbSNP
6g.33443839A>CCA363632669SYNGAP1,SYNGAP1-AS1c.3029A>C (p.Glu1010Ala)
c.3287A>C (p.Glu1096Ala)
c.3245A>C (p.Glu1082Ala)
c.3110A>C (p.Glu1037Ala)
c.3242A>C (p.Glu1081Ala)
n.329+2767T>G
 ClinVar
6g.33443839A>GCA363632659SYNGAP1,SYNGAP1-AS1c.3029A>G (p.Glu1010Gly)
c.3287A>G (p.Glu1096Gly)
c.3245A>G (p.Glu1082Gly)
c.3110A>G (p.Glu1037Gly)
c.3242A>G (p.Glu1081Gly)
n.329+2767T>C
6g.33443839A>TCA363632663SYNGAP1,SYNGAP1-AS1c.3029A>T (p.Glu1010Val)
c.3287A>T (p.Glu1096Val)
c.3245A>T (p.Glu1082Val)
c.3110A>T (p.Glu1037Val)
c.3242A>T (p.Glu1081Val)
n.329+2767T>A
6g.33443840G>ACA449836219SYNGAP1,SYNGAP1-AS1c.3030G>A (p.Glu1010=)
c.3288G>A (p.Glu1096=)
c.3246G>A (p.Glu1082=)
c.3111G>A (p.Glu1037=)
c.3243G>A (p.Glu1081=)
n.329+2766C>T
6g.33443840G>CCA363632672SYNGAP1,SYNGAP1-AS1c.3030G>C (p.Glu1010Asp)
c.3288G>C (p.Glu1096Asp)
c.3246G>C (p.Glu1082Asp)
c.3111G>C (p.Glu1037Asp)
c.3243G>C (p.Glu1081Asp)
n.329+2766C>G
6g.33443840G>TCA363632676SYNGAP1,SYNGAP1-AS1c.3030G>T (p.Glu1010Asp)
c.3288G>T (p.Glu1096Asp)
c.3246G>T (p.Glu1082Asp)
c.3111G>T (p.Glu1037Asp)
c.3243G>T (p.Glu1081Asp)
n.329+2766C>A
6g.33443841C>ACA363632680SYNGAP1,SYNGAP1-AS1c.3031C>A (p.Pro1011Thr)
c.3289C>A (p.Pro1097Thr)
c.3247C>A (p.Pro1083Thr)
c.3112C>A (p.Pro1038Thr)
c.3244C>A (p.Pro1082Thr)
n.329+2765G>T
6g.33443841C>GCA363632682SYNGAP1,SYNGAP1-AS1c.3031C>G (p.Pro1011Ala)
c.3289C>G (p.Pro1097Ala)
c.3247C>G (p.Pro1083Ala)
c.3112C>G (p.Pro1038Ala)
c.3244C>G (p.Pro1082Ala)
n.329+2765G>C
6g.33443841C>TCA363632683SYNGAP1,SYNGAP1-AS1c.3031C>T (p.Pro1011Ser)
c.3289C>T (p.Pro1097Ser)
c.3247C>T (p.Pro1083Ser)
c.3112C>T (p.Pro1038Ser)
c.3244C>T (p.Pro1082Ser)
n.329+2765G>A
6g.33443842delCA2770567271SYNGAP1,SYNGAP1-AS1c.3032del (p.Pro1011GlnfsTer?)
c.3290del (p.Pro1097GlnfsTer?)
c.3248del (p.Pro1083GlnfsTer?)
c.3113del (p.Pro1038GlnfsTer?)
c.3245del (p.Pro1082GlnfsTer?)
n.329+2765del
6g.33443842C>ACA363632684SYNGAP1,SYNGAP1-AS1c.3032C>A (p.Pro1011Gln)
c.3290C>A (p.Pro1097Gln)
c.3248C>A (p.Pro1083Gln)
c.3113C>A (p.Pro1038Gln)
c.3245C>A (p.Pro1082Gln)
n.329+2764G>T
 gnomAD v4
6g.33443842C>GCA363632686SYNGAP1,SYNGAP1-AS1c.3032C>G (p.Pro1011Arg)
c.3290C>G (p.Pro1097Arg)
c.3248C>G (p.Pro1083Arg)
c.3113C>G (p.Pro1038Arg)
c.3245C>G (p.Pro1082Arg)
n.329+2764G>C
6g.33443842C>TCA363632685SYNGAP1,SYNGAP1-AS1c.3032C>T (p.Pro1011Leu)
c.3290C>T (p.Pro1097Leu)
c.3248C>T (p.Pro1083Leu)
c.3113C>T (p.Pro1038Leu)
c.3245C>T (p.Pro1082Leu)
n.329+2764G>A
 ClinVar
6g.33443843A>CCA449836221SYNGAP1,SYNGAP1-AS1c.3033A>C (p.Pro1011=)
c.3291A>C (p.Pro1097=)
c.3249A>C (p.Pro1083=)
c.3114A>C (p.Pro1038=)
c.3246A>C (p.Pro1082=)
n.329+2763T>G
6g.33443843A>GCA449836222SYNGAP1,SYNGAP1-AS1c.3033A>G (p.Pro1011=)
c.3291A>G (p.Pro1097=)
c.3249A>G (p.Pro1083=)
c.3114A>G (p.Pro1038=)
c.3246A>G (p.Pro1082=)
n.329+2763T>C
6g.33443843A>TCA449836223SYNGAP1,SYNGAP1-AS1c.3033A>T (p.Pro1011=)
c.3291A>T (p.Pro1097=)
c.3249A>T (p.Pro1083=)
c.3114A>T (p.Pro1038=)
c.3246A>T (p.Pro1082=)
n.329+2763T>A
6g.33443844A>CCA363632690SYNGAP1,SYNGAP1-AS1c.3034A>C (p.Ser1012Arg)
c.3292A>C (p.Ser1098Arg)
c.3250A>C (p.Ser1084Arg)
c.3115A>C (p.Ser1039Arg)
c.3247A>C (p.Ser1083Arg)
n.329+2762T>G
6g.33443844A>GCA363632699SYNGAP1,SYNGAP1-AS1c.3034A>G (p.Ser1012Gly)
c.3292A>G (p.Ser1098Gly)
c.3250A>G (p.Ser1084Gly)
c.3115A>G (p.Ser1039Gly)
c.3247A>G (p.Ser1083Gly)
n.329+2762T>C
6g.33443844A>TCA363632702SYNGAP1,SYNGAP1-AS1c.3034A>T (p.Ser1012Cys)
c.3292A>T (p.Ser1098Cys)
c.3250A>T (p.Ser1084Cys)
c.3115A>T (p.Ser1039Cys)
c.3247A>T (p.Ser1083Cys)
n.329+2762T>A
6g.33443845G>ACA363632707SYNGAP1,SYNGAP1-AS1c.3035G>A (p.Ser1012Asn)
c.3293G>A (p.Ser1098Asn)
c.3251G>A (p.Ser1084Asn)
c.3116G>A (p.Ser1039Asn)
c.3248G>A (p.Ser1083Asn)
n.329+2761C>T
 ClinVar dbSNP gnomAD v4
6g.33443845G>CCA363632711SYNGAP1,SYNGAP1-AS1c.3035G>C (p.Ser1012Thr)
c.3293G>C (p.Ser1098Thr)
c.3251G>C (p.Ser1084Thr)
c.3116G>C (p.Ser1039Thr)
c.3248G>C (p.Ser1083Thr)
n.329+2761C>G
6g.33443845G=CA1620014814SYNGAP1,SYNGAP1-AS1c.3035G= (p.Ser1012=)
c.3293G= (p.Ser1098=)
c.3251G= (p.Ser1084=)
c.3116G= (p.Ser1039=)
c.3248G= (p.Ser1083=)
n.329+2761C=
6g.33443845G>TCA363632712SYNGAP1,SYNGAP1-AS1c.3035G>T (p.Ser1012Ile)
c.3293G>T (p.Ser1098Ile)
c.3251G>T (p.Ser1084Ile)
c.3116G>T (p.Ser1039Ile)
c.3248G>T (p.Ser1083Ile)
n.329+2761C>A
 gnomAD v4
6g.33443846T>ACA363632717SYNGAP1,SYNGAP1-AS1c.3036T>A (p.Ser1012Arg)
c.3294T>A (p.Ser1098Arg)
c.3252T>A (p.Ser1084Arg)
c.3117T>A (p.Ser1039Arg)
c.3249T>A (p.Ser1083Arg)
n.329+2760A>T
6g.33443846T>CCA449836228SYNGAP1,SYNGAP1-AS1c.3036T>C (p.Ser1012=)
c.3294T>C (p.Ser1098=)
c.3252T>C (p.Ser1084=)
c.3117T>C (p.Ser1039=)
c.3249T>C (p.Ser1083=)
n.329+2760A>G
 ClinVar dbSNP
6g.33443846T>GCA363632720SYNGAP1,SYNGAP1-AS1c.3036T>G (p.Ser1012Arg)
c.3294T>G (p.Ser1098Arg)
c.3252T>G (p.Ser1084Arg)
c.3117T>G (p.Ser1039Arg)
c.3249T>G (p.Ser1083Arg)
n.329+2760A>C
 COSMIC COSMIC
6g.33443847T>ACA363632723SYNGAP1,SYNGAP1-AS1c.3037T>A (p.Tyr1013Asn)
c.3295T>A (p.Tyr1099Asn)
c.3253T>A (p.Tyr1085Asn)
c.3118T>A (p.Tyr1040Asn)
c.3250T>A (p.Tyr1084Asn)
n.329+2759A>T
6g.33443847T>CCA363632725SYNGAP1,SYNGAP1-AS1c.3037T>C (p.Tyr1013His)
c.3295T>C (p.Tyr1099His)
c.3253T>C (p.Tyr1085His)
c.3118T>C (p.Tyr1040His)
c.3250T>C (p.Tyr1084His)
n.329+2759A>G
 gnomAD v4
6g.33443847T>GCA363632726SYNGAP1,SYNGAP1-AS1c.3037T>G (p.Tyr1013Asp)
c.3295T>G (p.Tyr1099Asp)
c.3253T>G (p.Tyr1085Asp)
c.3118T>G (p.Tyr1040Asp)
c.3250T>G (p.Tyr1084Asp)
n.329+2759A>C
6g.33443848A=CA1620014815SYNGAP1,SYNGAP1-AS1c.3038A= (p.Tyr1013=)
c.3296A= (p.Tyr1099=)
c.3254A= (p.Tyr1085=)
c.3119A= (p.Tyr1040=)
c.3251A= (p.Tyr1084=)
n.329+2758T=
6g.33443848A>CCA363632728SYNGAP1,SYNGAP1-AS1c.3038A>C (p.Tyr1013Ser)
c.3296A>C (p.Tyr1099Ser)
c.3254A>C (p.Tyr1085Ser)
c.3119A>C (p.Tyr1040Ser)
c.3251A>C (p.Tyr1084Ser)
n.329+2758T>G
6g.33443848A>GCA3759010SYNGAP1,SYNGAP1-AS1c.3038A>G (p.Tyr1013Cys)
c.3296A>G (p.Tyr1099Cys)
c.3254A>G (p.Tyr1085Cys)
c.3119A>G (p.Tyr1040Cys)
c.3251A>G (p.Tyr1084Cys)
n.329+2758T>C
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
6g.33443848A>TCA363632727SYNGAP1,SYNGAP1-AS1c.3038A>T (p.Tyr1013Phe)
c.3296A>T (p.Tyr1099Phe)
c.3254A>T (p.Tyr1085Phe)
c.3119A>T (p.Tyr1040Phe)
c.3251A>T (p.Tyr1084Phe)
n.329+2758T>A
6g.33443849T>ACA363632730SYNGAP1,SYNGAP1-AS1c.3039T>A (p.Tyr1013Ter)
c.3297T>A (p.Tyr1099Ter)
c.3255T>A (p.Tyr1085Ter)
c.3120T>A (p.Tyr1040Ter)
c.3252T>A (p.Tyr1084Ter)
n.329+2757A>T
6g.33443849T>CCA3759011SYNGAP1,SYNGAP1-AS1c.3039T>C (p.Tyr1013=)
c.3297T>C (p.Tyr1099=)
c.3255T>C (p.Tyr1085=)
c.3120T>C (p.Tyr1040=)
c.3252T>C (p.Tyr1084=)
n.329+2757A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.33443849T>GCA363632731SYNGAP1,SYNGAP1-AS1c.3039T>G (p.Tyr1013Ter)
c.3297T>G (p.Tyr1099Ter)
c.3255T>G (p.Tyr1085Ter)
c.3120T>G (p.Tyr1040Ter)
c.3252T>G (p.Tyr1084Ter)
n.329+2757A>C
6g.33443849T=CA1620014816SYNGAP1,SYNGAP1-AS1c.3039T= (p.Tyr1013=)
c.3297T= (p.Tyr1099=)
c.3255T= (p.Tyr1085=)
c.3120T= (p.Tyr1040=)
c.3252T= (p.Tyr1084=)
n.329+2757A=
6g.33443850G>ACA363632737SYNGAP1,SYNGAP1-AS1c.3040G>A (p.Gly1014Ser)
c.3298G>A (p.Gly1100Ser)
c.3256G>A (p.Gly1086Ser)
c.3121G>A (p.Gly1041Ser)
c.3253G>A (p.Gly1085Ser)
n.329+2756C>T
6g.33443850G>CCA363632740SYNGAP1,SYNGAP1-AS1c.3040G>C (p.Gly1014Arg)
c.3298G>C (p.Gly1100Arg)
c.3256G>C (p.Gly1086Arg)
c.3121G>C (p.Gly1041Arg)
c.3253G>C (p.Gly1085Arg)
n.329+2756C>G
6g.33443850G>TCA363632742SYNGAP1,SYNGAP1-AS1c.3040G>T (p.Gly1014Cys)
c.3298G>T (p.Gly1100Cys)
c.3256G>T (p.Gly1086Cys)
c.3121G>T (p.Gly1041Cys)
c.3253G>T (p.Gly1085Cys)
n.329+2756C>A
6g.33443851G>ACA363632746SYNGAP1,SYNGAP1-AS1c.3041G>A (p.Gly1014Asp)
c.3299G>A (p.Gly1100Asp)
c.3257G>A (p.Gly1086Asp)
c.3122G>A (p.Gly1041Asp)
c.3254G>A (p.Gly1085Asp)
n.329+2755C>T
6g.33443851G>CCA363632748SYNGAP1,SYNGAP1-AS1c.3041G>C (p.Gly1014Ala)
c.3299G>C (p.Gly1100Ala)
c.3257G>C (p.Gly1086Ala)
c.3122G>C (p.Gly1041Ala)
c.3254G>C (p.Gly1085Ala)
n.329+2755C>G
6g.33443851G>TCA363632752SYNGAP1,SYNGAP1-AS1c.3041G>T (p.Gly1014Val)
c.3299G>T (p.Gly1100Val)
c.3257G>T (p.Gly1086Val)
c.3122G>T (p.Gly1041Val)
c.3254G>T (p.Gly1085Val)
n.329+2755C>A
 gnomAD v4
6g.33443852C>ACA449836233SYNGAP1,SYNGAP1-AS1c.3042C>A (p.Gly1014=)
c.3300C>A (p.Gly1100=)
c.3258C>A (p.Gly1086=)
c.3123C>A (p.Gly1041=)
c.3255C>A (p.Gly1085=)
n.329+2754G>T
 gnomAD v4
6g.33443852C=CA1620014817SYNGAP1,SYNGAP1-AS1c.3042C= (p.Gly1014=)
c.3300C= (p.Gly1100=)
c.3258C= (p.Gly1086=)
c.3123C= (p.Gly1041=)
c.3255C= (p.Gly1085=)
n.329+2754G=
6g.33443852C>GCA449836232SYNGAP1,SYNGAP1-AS1c.3042C>G (p.Gly1014=)
c.3300C>G (p.Gly1100=)
c.3258C>G (p.Gly1086=)
c.3123C>G (p.Gly1041=)
c.3255C>G (p.Gly1085=)
n.329+2754G>C
6g.33443852C>TCA3759012SYNGAP1,SYNGAP1-AS1c.3042C>T (p.Gly1014=)
c.3300C>T (p.Gly1100=)
c.3258C>T (p.Gly1086=)
c.3123C>T (p.Gly1041=)
c.3255C>T (p.Gly1085=)
n.329+2754G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.33443855delCA2573140296SYNGAP1,SYNGAP1-AS1c.3045del (p.Ala1016ProfsTer28)
c.3303del (p.Ala1102ProfsTer28)
c.3261del (p.Ala1088ProfsTer28)
c.3126del (p.Ala1043ProfsTer28)
c.3258del (p.Ala1087ProfsTer28)
n.329+2754del
 ClinVar dbSNP
6g.33443853C>ACA363632753SYNGAP1,SYNGAP1-AS1c.3043C>A (p.Pro1015Thr)
c.3301C>A (p.Pro1101Thr)
c.3259C>A (p.Pro1087Thr)
c.3124C>A (p.Pro1042Thr)
c.3256C>A (p.Pro1086Thr)
n.329+2753G>T
6g.33443853C>GCA363632754SYNGAP1,SYNGAP1-AS1c.3043C>G (p.Pro1015Ala)
c.3301C>G (p.Pro1101Ala)
c.3259C>G (p.Pro1087Ala)
c.3124C>G (p.Pro1042Ala)
c.3256C>G (p.Pro1086Ala)
n.329+2753G>C
6g.33443853C>TCA363632755SYNGAP1,SYNGAP1-AS1c.3043C>T (p.Pro1015Ser)
c.3301C>T (p.Pro1101Ser)
c.3259C>T (p.Pro1087Ser)
c.3124C>T (p.Pro1042Ser)
c.3256C>T (p.Pro1086Ser)
n.329+2753G>A
 gnomAD v4
6g.33443854C>ACA363632757SYNGAP1,SYNGAP1-AS1c.3044C>A (p.Pro1015His)
c.3302C>A (p.Pro1101His)
c.3260C>A (p.Pro1087His)
c.3125C>A (p.Pro1042His)
c.3257C>A (p.Pro1086His)
n.329+2752G>T
6g.33443854C>GCA363632758SYNGAP1,SYNGAP1-AS1c.3044C>G (p.Pro1015Arg)
c.3302C>G (p.Pro1101Arg)
c.3260C>G (p.Pro1087Arg)
c.3125C>G (p.Pro1042Arg)
c.3257C>G (p.Pro1086Arg)
n.329+2752G>C
6g.33443854C>TCA363632760SYNGAP1,SYNGAP1-AS1c.3044C>T (p.Pro1015Leu)
c.3302C>T (p.Pro1101Leu)
c.3260C>T (p.Pro1087Leu)
c.3125C>T (p.Pro1042Leu)
c.3257C>T (p.Pro1086Leu)
n.329+2752G>A
6g.33443855C>ACA449836236SYNGAP1,SYNGAP1-AS1c.3045C>A (p.Pro1015=)
c.3303C>A (p.Pro1101=)
c.3261C>A (p.Pro1087=)
c.3126C>A (p.Pro1042=)
c.3258C>A (p.Pro1086=)
n.329+2751G>T
 gnomAD v4
6g.33443855C=CA1620014818SYNGAP1,SYNGAP1-AS1c.3045C= (p.Pro1015=)
c.3303C= (p.Pro1101=)
c.3261C= (p.Pro1087=)
c.3126C= (p.Pro1042=)
c.3258C= (p.Pro1086=)
n.329+2751G=
6g.33443855C>GCA449836237SYNGAP1,SYNGAP1-AS1c.3045C>G (p.Pro1015=)
c.3303C>G (p.Pro1101=)
c.3261C>G (p.Pro1087=)
c.3126C>G (p.Pro1042=)
c.3258C>G (p.Pro1086=)
n.329+2751G>C
6g.33443855C>TCA3759013SYNGAP1,SYNGAP1-AS1c.3045C>T (p.Pro1015=)
c.3303C>T (p.Pro1101=)
c.3261C>T (p.Pro1087=)
c.3126C>T (p.Pro1042=)
c.3258C>T (p.Pro1086=)
n.329+2751G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.33443856G>ACA3759014SYNGAP1,SYNGAP1-AS1c.3046G>A (p.Ala1016Thr)
c.3304G>A (p.Ala1102Thr)
c.3262G>A (p.Ala1088Thr)
c.3127G>A (p.Ala1043Thr)
c.3259G>A (p.Ala1087Thr)
n.329+2750C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.33443856G>CCA363632765SYNGAP1,SYNGAP1-AS1c.3046G>C (p.Ala1016Pro)
c.3304G>C (p.Ala1102Pro)
c.3262G>C (p.Ala1088Pro)
c.3127G>C (p.Ala1043Pro)
c.3259G>C (p.Ala1087Pro)
n.329+2750C>G
 ClinVar
6g.33443856G=CA1620014819SYNGAP1,SYNGAP1-AS1c.3046G= (p.Ala1016=)
c.3304G= (p.Ala1102=)
c.3262G= (p.Ala1088=)
c.3127G= (p.Ala1043=)
c.3259G= (p.Ala1087=)
n.329+2750C=
6g.33443856G>TCA363632768SYNGAP1,SYNGAP1-AS1c.3046G>T (p.Ala1016Ser)
c.3304G>T (p.Ala1102Ser)
c.3262G>T (p.Ala1088Ser)
c.3127G>T (p.Ala1043Ser)
c.3259G>T (p.Ala1087Ser)
n.329+2750C>A
6g.33443857C>ACA363632773SYNGAP1,SYNGAP1-AS1c.3047C>A (p.Ala1016Asp)
c.3305C>A (p.Ala1102Asp)
c.3263C>A (p.Ala1088Asp)
c.3128C>A (p.Ala1043Asp)
c.3260C>A (p.Ala1087Asp)
n.329+2749G>T
6g.33443857C>GCA363632775SYNGAP1,SYNGAP1-AS1c.3047C>G (p.Ala1016Gly)
c.3305C>G (p.Ala1102Gly)
c.3263C>G (p.Ala1088Gly)
c.3128C>G (p.Ala1043Gly)
c.3260C>G (p.Ala1087Gly)
n.329+2749G>C
6g.33443857C>TCA363632779SYNGAP1,SYNGAP1-AS1c.3047C>T (p.Ala1016Val)
c.3305C>T (p.Ala1102Val)
c.3263C>T (p.Ala1088Val)
c.3128C>T (p.Ala1043Val)
c.3260C>T (p.Ala1087Val)
n.329+2749G>A
 ClinVar gnomAD v4
6g.33443858C>ACA449836241SYNGAP1,SYNGAP1-AS1c.3048C>A (p.Ala1016=)
c.3306C>A (p.Ala1102=)
c.3264C>A (p.Ala1088=)
c.3129C>A (p.Ala1043=)
c.3261C>A (p.Ala1087=)
n.329+2748G>T
6g.33443858C=CA1620014820SYNGAP1,SYNGAP1-AS1c.3048C= (p.Ala1016=)
c.3306C= (p.Ala1102=)
c.3264C= (p.Ala1088=)
c.3129C= (p.Ala1043=)
c.3261C= (p.Ala1087=)
n.329+2748G=
6g.33443858C>GCA449836242SYNGAP1,SYNGAP1-AS1c.3048C>G (p.Ala1016=)
c.3306C>G (p.Ala1102=)
c.3264C>G (p.Ala1088=)
c.3129C>G (p.Ala1043=)
c.3261C>G (p.Ala1087=)
n.329+2748G>C
 ClinVar dbSNP gnomAD v4
6g.33443858C>TCA449836243SYNGAP1,SYNGAP1-AS1c.3048C>T (p.Ala1016=)
c.3306C>T (p.Ala1102=)
c.3264C>T (p.Ala1088=)
c.3129C>T (p.Ala1043=)
c.3261C>T (p.Ala1087=)
n.329+2748G>A
6g.33443859C>ACA363632784SYNGAP1,SYNGAP1-AS1c.3049C>A (p.Arg1017Ser)
c.3307C>A (p.Arg1103Ser)
c.3265C>A (p.Arg1089Ser)
c.3130C>A (p.Arg1044Ser)
c.3262C>A (p.Arg1088Ser)
n.329+2747G>T
6g.33443859C=CA1620014821SYNGAP1,SYNGAP1-AS1c.3049C= (p.Arg1017=)
c.3307C= (p.Arg1103=)
c.3265C= (p.Arg1089=)
c.3130C= (p.Arg1044=)
c.3262C= (p.Arg1088=)
n.329+2747G=
6g.33443859C>GCA363632787SYNGAP1,SYNGAP1-AS1c.3049C>G (p.Arg1017Gly)
c.3307C>G (p.Arg1103Gly)
c.3265C>G (p.Arg1089Gly)
c.3130C>G (p.Arg1044Gly)
c.3262C>G (p.Arg1088Gly)
n.329+2747G>C
6g.33443859C>TCA363632788SYNGAP1,SYNGAP1-AS1c.3049C>T (p.Arg1017Cys)
c.3307C>T (p.Arg1103Cys)
c.3265C>T (p.Arg1089Cys)
c.3130C>T (p.Arg1044Cys)
c.3262C>T (p.Arg1088Cys)
n.329+2747G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched