Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.33443760A>C | CA450104328 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33443760A>G | CA363632088 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33443760A>T | CA363632091 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33443761G>A | CA363632095 | SYNGAP1,SYNGAP1-AS1 | c.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 |
6 | g.33443761G>C | CA363632096 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33443761G= | CA1620014782 | SYNGAP1,SYNGAP1-AS1 | c.2951G= (p.Arg984=) c.3209G= (p.Arg1070=) c.3167G= (p.Arg1056=) c.3032G= (p.Arg1011=) c.3164G= (p.Arg1055=) n.329+2845C= | |
6 | g.33443761G>T | CA363632099 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33443761_33443762delinsCA | CA2697553287 | SYNGAP1,SYNGAP1-AS1 | c.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 |
6 | g.33443762G>A | CA450104329 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33443762G>C | CA363632101 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33443762G>T | CA363632104 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33443763G>A | CA363632107 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33443763G>C | CA363632110 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33443763G>T | CA363632114 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33443764G>A | CA363632123 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33443764G>C | CA363632125 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33443764G>T | CA363632128 | SYNGAP1,SYNGAP1-AS1 | c.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 |
6 | g.33443767_33443776del | CA2695206225 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33443765del | CA2580074396 | SYNGAP1,SYNGAP1-AS1 | c.2955del (p.Lys986SerfsTer5) c.3213del (p.Lys1072SerfsTer5) c.3171del (p.Lys1058SerfsTer5) c.3036del (p.Lys1013SerfsTer5) c.3168del (p.Lys1057SerfsTer5) n.329+2841del | ClinVar |
6 | g.33443765C>A | CA450104330 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33443765C>G | CA450104331 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33443765C>T | CA450104332 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33443766A= | CA1620014783 | SYNGAP1,SYNGAP1-AS1 | c.2956A= (p.Lys986=) c.3214A= (p.Lys1072=) c.3172A= (p.Lys1058=) c.3037A= (p.Lys1013=) c.3169A= (p.Lys1057=) n.329+2840T= | |
6 | g.33443766A>C | CA363632137 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33443766A>G | CA363632136 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33443766A>T | CA363632133 | SYNGAP1,SYNGAP1-AS1 | c.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 |
6 | g.33443767A>C | CA363632138 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33443767A>G | CA363632139 | SYNGAP1,SYNGAP1-AS1 | c.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 |
6 | g.33443767A>T | CA363632140 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33443768G>A | CA450104333 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33443768G>C | CA363632141 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33443768G= | CA1620014784 | SYNGAP1,SYNGAP1-AS1 | c.2958G= (p.Lys986=) c.3216G= (p.Lys1072=) c.3174G= (p.Lys1058=) c.3039G= (p.Lys1013=) c.3171G= (p.Lys1057=) n.329+2838C= | |
6 | g.33443768G>T | CA363632142 | SYNGAP1,SYNGAP1-AS1 | c.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 |
6 | g.33443769T>A | CA363632146 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33443769T>C | CA363632145 | SYNGAP1,SYNGAP1-AS1 | c.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 |
6 | g.33443769T>G | CA363632144 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33443769T= | CA1620014785 | SYNGAP1,SYNGAP1-AS1 | c.2959T= (p.Ser987=) c.3217T= (p.Ser1073=) c.3175T= (p.Ser1059=) c.3040T= (p.Ser1014=) c.3172T= (p.Ser1058=) n.329+2837A= | |
6 | g.33443770C>A | CA363632147 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33443770C= | CA1620014786 | SYNGAP1,SYNGAP1-AS1 | c.2960C= (p.Ser987=) c.3218C= (p.Ser1073=) c.3176C= (p.Ser1059=) c.3041C= (p.Ser1014=) c.3173C= (p.Ser1058=) n.329+2836G= | |
6 | g.33443770C>G | CA363632149 | SYNGAP1,SYNGAP1-AS1 | c.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 |
6 | g.33443770C>T | CA137073480 | SYNGAP1,SYNGAP1-AS1 | c.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 |
6 | g.33443771T>A | CA450104334 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33443771T>C | CA450104335 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33443771T>G | CA450104336 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33443772C>A | CA363632154 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33443772C= | CA1620014787 | SYNGAP1,SYNGAP1-AS1 | c.2962C= (p.Gln988=) c.3220C= (p.Gln1074=) c.3178C= (p.Gln1060=) c.3043C= (p.Gln1015=) c.3175C= (p.Gln1059=) n.329+2834G= | |
6 | g.33443772C>G | CA363632156 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33443772C>T | CA363632164 | SYNGAP1,SYNGAP1-AS1 | c.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 |
6 | g.33443773A>C | CA363632179 | SYNGAP1,SYNGAP1-AS1 | c.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 |
6 | g.33443773A>G | CA363632168 | SYNGAP1,SYNGAP1-AS1 | c.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 |
6 | g.33443773A>T | CA363632171 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33443774G>A | CA450104337 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33443774G>C | CA363632186 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33443774G>T | CA363632188 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33443775C>A | CA363632191 | SYNGAP1,SYNGAP1-AS1 | c.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 |
6 | g.33443775C= | CA1620014788 | SYNGAP1,SYNGAP1-AS1 | c.2965C= (p.Gln989=) c.3223C= (p.Gln1075=) c.3181C= (p.Gln1061=) c.3046C= (p.Gln1016=) c.3178C= (p.Gln1060=) n.329+2831G= | |
6 | g.33443775C>G | CA363632195 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33443775C>T | CA363632198 | SYNGAP1,SYNGAP1-AS1 | c.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 |
6 | g.33443776A>C | CA363632208 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33443776A>G | CA363632210 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33443776A>T | CA363632212 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33443777G>A | CA450104338 | SYNGAP1,SYNGAP1-AS1 | c.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 |
6 | g.33443777G>C | CA363632215 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33443777G>T | CA363632218 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33443777_33443778delinsGT | CA1620014789 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33443778T>A | CA363632223 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33443778T>C | CA3759003 | SYNGAP1,SYNGAP1-AS1 | c.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 |
6 | g.33443778T>G | CA363632227 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33443778T= | CA1620014790 | SYNGAP1,SYNGAP1-AS1 | c.2968T= (p.Leu990=) c.3226T= (p.Leu1076=) c.3184T= (p.Leu1062=) c.3049T= (p.Leu1017=) c.3181T= (p.Leu1061=) n.329+2828A= | |
6 | g.33443779del | CA16618283 | SYNGAP1,SYNGAP1-AS1 | c.2969del (p.Leu990Ter) c.3227del (p.Leu1076Ter) c.3185del (p.Leu1062Ter) c.3050del (p.Leu1017Ter) c.3182del (p.Leu1061Ter) n.329+2828del | ClinVar dbSNP |
6 | g.33443779T>A | CA363632236 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33443779T>C | CA363632232 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33443779T>G | CA363632234 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33443780G>A | CA450104339 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33443780G>C | CA363632241 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33443780G>T | CA363632246 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33443781A>C | CA363632250 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33443781A>G | CA363632264 | SYNGAP1,SYNGAP1-AS1 | c.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 |
6 | g.33443781A>T | CA363632266 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33443781_33443785delinsACAGT | CA1620014791 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33443782C>A | CA363632272 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33443782C>G | CA363632271 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33443782C>T | CA363632269 | SYNGAP1,SYNGAP1-AS1 | c.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 |
6 | g.33443785_33443788del | CA658761549 | SYNGAP1,SYNGAP1-AS1 | c.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 |
6 | g.33443783A= | CA1620014792 | SYNGAP1,SYNGAP1-AS1 | c.2973A= (p.Thr991=) c.3231A= (p.Thr1077=) c.3189A= (p.Thr1063=) c.3054A= (p.Thr1018=) c.3186A= (p.Thr1062=) n.329+2823T= | |
6 | g.33443783A>C | CA450104341 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33443783A>G | CA137073492 | SYNGAP1,SYNGAP1-AS1 | c.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 |
6 | g.33443783A>T | CA450104340 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33443784G>A | CA363632275 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33443784G>C | CA363632276 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33443784G>T | CA363632284 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33443785_33443807del | CA2499218230 | SYNGAP1,SYNGAP1-AS1 | c.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 |
6 | g.33443785T>A | CA363632287 | SYNGAP1,SYNGAP1-AS1 | c.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 |
6 | g.33443785T>C | CA363632298 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33443785T>G | CA363632301 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33443785T= | CA1620014793 | SYNGAP1,SYNGAP1-AS1 | c.2975T= (p.Val992=) c.3233T= (p.Val1078=) c.3191T= (p.Val1064=) c.3056T= (p.Val1019=) c.3188T= (p.Val1063=) n.329+2821A= | |
6 | g.33443786C>A | CA450104342 | SYNGAP1,SYNGAP1-AS1 | c.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 |
6 | g.33443786C>G | CA450104343 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33443786C>T | CA450104344 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33443787A>C | CA363632307 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33443787A>G | CA363632304 | SYNGAP1,SYNGAP1-AS1 | c.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 |
6 | g.33443787A>T | CA363632305 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33443788G>A | CA363632309 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33443788G>C | CA363632312 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33443788G= | CA1620014794 | SYNGAP1,SYNGAP1-AS1 | c.2978G= (p.Ser993=) c.3236G= (p.Ser1079=) c.3194G= (p.Ser1065=) c.3059G= (p.Ser1020=) c.3191G= (p.Ser1064=) n.329+2818C= | |
6 | g.33443788G>T | CA3759004 | SYNGAP1,SYNGAP1-AS1 | c.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 |
6 | g.33443789C>A | CA137073500 | SYNGAP1,SYNGAP1-AS1 | c.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 |
6 | g.33443789C= | CA1620014795 | SYNGAP1,SYNGAP1-AS1 | c.2979C= (p.Ser993=) c.3237C= (p.Ser1079=) c.3195C= (p.Ser1065=) c.3060C= (p.Ser1020=) c.3192C= (p.Ser1064=) n.329+2817G= | |
6 | g.33443789C>G | CA363632315 | SYNGAP1,SYNGAP1-AS1 | c.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 |
6 | g.33443789C>T | CA3759005 | SYNGAP1,SYNGAP1-AS1 | c.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 |
6 | g.33443790G>A | CA363632317 | SYNGAP1,SYNGAP1-AS1 | c.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 |
6 | g.33443790G>C | CA363632318 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33443790G= | CA1620014796 | SYNGAP1,SYNGAP1-AS1 | c.2980G= (p.Ala994=) c.3238G= (p.Ala1080=) c.3196G= (p.Ala1066=) c.3061G= (p.Ala1021=) c.3193G= (p.Ala1065=) n.329+2816C= | |
6 | g.33443790G>T | CA363632320 | SYNGAP1,SYNGAP1-AS1 | c.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 |
6 | g.33443791C>A | CA363632323 | SYNGAP1,SYNGAP1-AS1 | c.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 |
6 | g.33443791C>G | CA363632325 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33443791C>T | CA363632328 | SYNGAP1,SYNGAP1-AS1 | c.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 |
6 | g.33443792A>C | CA449836165 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33443792A>G | CA449836166 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33443792A>T | CA449836167 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33443793G>A | CA363632345 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33443793G>C | CA363632338 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33443793G>T | CA363632342 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33443794C>A | CA363632349 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33443794C>G | CA363632351 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33443794C>T | CA363632354 | SYNGAP1,SYNGAP1-AS1 | c.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 |
6 | g.33443795C>A | CA449836168 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33443795C>G | CA449836169 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33443795C>T | CA449836170 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33443796C>A | CA363632359 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33443796C= | CA1620014797 | SYNGAP1,SYNGAP1-AS1 | c.2986C= (p.Gln996=) c.3244C= (p.Gln1082=) c.3202C= (p.Gln1068=) c.3067C= (p.Gln1023=) c.3199C= (p.Gln1067=) n.329+2810G= | |
6 | g.33443796C>G | CA363632361 | SYNGAP1,SYNGAP1-AS1 | c.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 |
6 | g.33443796C>T | CA363632364 | SYNGAP1,SYNGAP1-AS1 | c.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 |
6 | g.33443797A>C | CA363632368 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33443797A>G | CA363632370 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33443797A>T | CA363632372 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33443797dup | CA2739289866 | SYNGAP1,SYNGAP1-AS1 | c.2987dup (p.Lys997GlufsTer?) c.3245dup (p.Lys1083GlufsTer?) c.3203dup (p.Lys1069GlufsTer?) c.3068dup (p.Lys1024GlufsTer?) c.3200dup (p.Lys1068GlufsTer?) n.329+2809dup | |
6 | g.33443797_33443798delinsAG | CA1620014798 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33443798G>A | CA449836175 | SYNGAP1,SYNGAP1-AS1 | c.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 |
6 | g.33443798G>C | CA363632375 | SYNGAP1,SYNGAP1-AS1 | c.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 |
6 | g.33443798G>T | CA363632378 | SYNGAP1,SYNGAP1-AS1 | c.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 |
6 | g.33443798delinsAA | CA658796748 | SYNGAP1,SYNGAP1-AS1 | c.2988delinsAA (p.Pro998ThrfsTer?) c.3246delinsAA (p.Pro1084ThrfsTer?) c.3204delinsAA (p.Pro1070ThrfsTer?) c.3069delinsAA (p.Pro1025ThrfsTer?) c.3201delinsAA (p.Pro1069ThrfsTer?) n.329+2808delinsTT | ClinVar dbSNP |
6 | g.33443799A>C | CA363632380 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33443799A>G | CA363632383 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33443799A>T | CA363632386 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33443800A>C | CA363632390 | SYNGAP1,SYNGAP1-AS1 | c.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 |
6 | g.33443800A>G | CA363632389 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33443800A>T | CA363632388 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33443801A>C | CA363632391 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33443801A>G | CA449836179 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33443801A>T | CA363632394 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33443802C>A | CA363632400 | SYNGAP1,SYNGAP1-AS1 | c.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 |
6 | g.33443802C= | CA1620014799 | SYNGAP1,SYNGAP1-AS1 | c.2992C= (p.Pro998=) c.3250C= (p.Pro1084=) c.3208C= (p.Pro1070=) c.3073C= (p.Pro1025=) c.3205C= (p.Pro1069=) n.329+2804G= | |
6 | g.33443802C>G | CA363632403 | SYNGAP1,SYNGAP1-AS1 | c.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 |
6 | g.33443802C>T | CA363632407 | SYNGAP1,SYNGAP1-AS1 | c.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 |
6 | g.33443805del | CA658761550 | SYNGAP1,SYNGAP1-AS1 | c.2995del (p.Arg999GlyfsTer?) c.3253del (p.Arg1085GlyfsTer?) c.3211del (p.Arg1071GlyfsTer?) c.3076del (p.Arg1026GlyfsTer?) c.3208del (p.Arg1070GlyfsTer?) n.329+2804del | gnomAD v4 |
6 | g.33443803C>A | CA363632410 | SYNGAP1,SYNGAP1-AS1 | c.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 |
6 | g.33443803C>G | CA363632411 | SYNGAP1,SYNGAP1-AS1 | c.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 |
6 | g.33443803C>T | CA363632412 | SYNGAP1,SYNGAP1-AS1 | c.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 |
6 | g.33443804C>A | CA449836180 | SYNGAP1,SYNGAP1-AS1 | c.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 |
6 | g.33443804C>G | CA449836182 | SYNGAP1,SYNGAP1-AS1 | c.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 |
6 | g.33443804C>T | CA449836181 | SYNGAP1,SYNGAP1-AS1 | c.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 |
6 | g.33443805C>A | CA449836183 | SYNGAP1,SYNGAP1-AS1 | c.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 |
6 | g.33443805C= | CA1620014800 | SYNGAP1,SYNGAP1-AS1 | c.2995C= (p.Arg999=) c.3253C= (p.Arg1085=) c.3211C= (p.Arg1071=) c.3076C= (p.Arg1026=) c.3208C= (p.Arg1070=) n.329+2801G= | |
6 | g.33443805C>G | CA363632413 | SYNGAP1,SYNGAP1-AS1 | c.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 |
6 | g.33443805C>T | CA363632414 | SYNGAP1,SYNGAP1-AS1 | c.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 |
6 | g.33443806G>A | CA137073508 | SYNGAP1,SYNGAP1-AS1 | c.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 |
6 | g.33443806G>C | CA363632415 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33443806G= | CA1620014801 | SYNGAP1,SYNGAP1-AS1 | c.2996G= (p.Arg999=) c.3254G= (p.Arg1085=) c.3212G= (p.Arg1071=) c.3077G= (p.Arg1026=) c.3209G= (p.Arg1070=) n.329+2800C= | |
6 | g.33443806G>T | CA363632417 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33443807G>A | CA3759006 | SYNGAP1,SYNGAP1-AS1 | c.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 |
6 | g.33443807G>C | CA449836187 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33443807G= | CA1620014802 | SYNGAP1,SYNGAP1-AS1 | c.2997G= (p.Arg999=) c.3255G= (p.Arg1085=) c.3213G= (p.Arg1071=) c.3078G= (p.Arg1026=) c.3210G= (p.Arg1070=) n.329+2799C= | |
6 | g.33443807G>T | CA449836188 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33443808C>A | CA363632422 | SYNGAP1,SYNGAP1-AS1 | c.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 |
6 | g.33443808C>G | CA363632423 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33443808C>T | CA363632420 | SYNGAP1,SYNGAP1-AS1 | c.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 |
6 | g.33443809C>A | CA363632425 | SYNGAP1,SYNGAP1-AS1 | c.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 |
6 | g.33443809C>G | CA363632431 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33443809C>T | CA363632435 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33443810A>C | CA449836190 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33443810A>G | CA449836191 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33443810A>T | CA449836192 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33443811T>A | CA363632446 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33443811T>C | CA363632448 | SYNGAP1,SYNGAP1-AS1 | c.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 |
6 | g.33443811T>G | CA363632450 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33443812C>A | CA363632453 | SYNGAP1,SYNGAP1-AS1 | c.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 |
6 | g.33443812C>G | CA363632456 | SYNGAP1,SYNGAP1-AS1 | c.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 |
6 | g.33443812C>T | CA363632466 | SYNGAP1,SYNGAP1-AS1 | c.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 |
6 | g.33443813C>A | CA449836194 | SYNGAP1,SYNGAP1-AS1 | c.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 |
6 | g.33443813C>G | CA449836196 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33443813C>T | CA449836197 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33443814A>C | CA363632470 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33443814A>G | CA363632472 | SYNGAP1,SYNGAP1-AS1 | c.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 |
6 | g.33443814A>T | CA363632474 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33443815G>A | CA363632482 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33443815G>C | CA363632480 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33443815G>T | CA363632478 | SYNGAP1,SYNGAP1-AS1 | c.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 |
6 | g.33443816del | CA2739289867 | SYNGAP1,SYNGAP1-AS1 | c.3006del (p.Ser1002ArgfsTer?) c.3264del (p.Ser1088ArgfsTer?) c.3222del (p.Ser1074ArgfsTer?) c.3087del (p.Ser1029ArgfsTer?) c.3219del (p.Ser1073ArgfsTer?) n.329+2790del | |
6 | g.33443816C>A | CA363632485 | SYNGAP1,SYNGAP1-AS1 | c.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 |
6 | g.33443816C= | CA1620014803 | SYNGAP1,SYNGAP1-AS1 | c.3006C= (p.Ser1002=) c.3264C= (p.Ser1088=) c.3222C= (p.Ser1074=) c.3087C= (p.Ser1029=) c.3219C= (p.Ser1073=) n.329+2790G= | |
6 | g.33443816C>G | CA363632487 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33443816C>T | CA3759007 | SYNGAP1,SYNGAP1-AS1 | c.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 |
6 | g.33443817G>A | CA363632488 | SYNGAP1,SYNGAP1-AS1 | c.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 |
6 | g.33443817G>C | CA363632489 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33443817G>T | CA363632490 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33443817_33443826dup | CA2580074398 | SYNGAP1,SYNGAP1-AS1 | c.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 |
6 | g.33443818G>A | CA363632492 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33443818G>C | CA363632493 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33443818G>T | CA363632495 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33443819G>A | CA449836202 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33443819G>C | CA449836203 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33443819G>T | CA449836204 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33443820A>C | CA363632498 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33443820A>G | CA363632500 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33443820A>T | CA363632503 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33443821dup | CA2499218231 | SYNGAP1,SYNGAP1-AS1 | c.3011dup (p.Asn1004LysfsTer?) c.3269dup (p.Asn1090LysfsTer?) c.3227dup (p.Asn1076LysfsTer?) c.3092dup (p.Asn1031LysfsTer?) c.3224dup (p.Asn1075LysfsTer?) n.329+2786dup | ClinVar dbSNP |
6 | g.33443821A>C | CA363632506 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33443821A>G | CA363632512 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33443821A>T | CA363632509 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33443822T>A | CA363632516 | SYNGAP1,SYNGAP1-AS1 | c.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 |
6 | g.33443822T>C | CA449836205 | SYNGAP1,SYNGAP1-AS1 | c.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 |
6 | g.33443822T>G | CA363632518 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33443823C>A | CA363632520 | SYNGAP1,SYNGAP1-AS1 | c.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 |
6 | g.33443823C= | CA1620014804 | SYNGAP1,SYNGAP1-AS1 | c.3013C= (p.Leu1005=) c.3271C= (p.Leu1091=) c.3229C= (p.Leu1077=) c.3094C= (p.Leu1032=) c.3226C= (p.Leu1076=) n.329+2783G= | |
6 | g.33443823C>G | CA363632522 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33443823C>T | CA449836206 | SYNGAP1,SYNGAP1-AS1 | c.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 |
6 | g.33443824T>A | CA363632525 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33443824T>C | CA363632526 | SYNGAP1,SYNGAP1-AS1 | c.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 |
6 | g.33443824T>G | CA363632529 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33443824dup | CA2695206226 | SYNGAP1,SYNGAP1-AS1 | c.3014dup (p.Leu1006IlefsTer?) c.3272dup (p.Leu1092IlefsTer?) c.3230dup (p.Leu1078IlefsTer?) c.3095dup (p.Leu1033IlefsTer?) c.3227dup (p.Leu1077IlefsTer?) n.329+2782dup | |
6 | g.33443825_33443826del | CA2770567268 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33443825A= | CA1620014805 | SYNGAP1,SYNGAP1-AS1 | c.3015A= (p.Leu1005=) c.3273A= (p.Leu1091=) c.3231A= (p.Leu1077=) c.3096A= (p.Leu1032=) c.3228A= (p.Leu1076=) n.329+2781T= | |
6 | g.33443825A>C | CA449836210 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33443825A>G | CA3759008 | SYNGAP1,SYNGAP1-AS1 | c.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 |
6 | g.33443825A>T | CA449836209 | SYNGAP1,SYNGAP1-AS1 | c.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 |
6 | g.33443826T>A | CA363632546 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33443826T>C | CA449836211 | SYNGAP1,SYNGAP1-AS1 | c.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 |
6 | g.33443826T>G | CA363632547 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33443826T= | CA1620014806 | SYNGAP1,SYNGAP1-AS1 | c.3016T= (p.Leu1006=) c.3274T= (p.Leu1092=) c.3232T= (p.Leu1078=) c.3097T= (p.Leu1033=) c.3229T= (p.Leu1077=) n.329+2780A= | |
6 | g.33443827T>A | CA363632552 | SYNGAP1,SYNGAP1-AS1 | c.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 |
6 | g.33443827T>C | CA363632555 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33443827T>G | CA363632556 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33443827T= | CA1620014807 | SYNGAP1,SYNGAP1-AS1 | c.3017T= (p.Leu1006=) c.3275T= (p.Leu1092=) c.3233T= (p.Leu1078=) c.3098T= (p.Leu1033=) c.3230T= (p.Leu1077=) n.329+2779A= | |
6 | g.33443828G>A | CA449836212 | SYNGAP1,SYNGAP1-AS1 | c.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 |
6 | g.33443828G>C | CA363632560 | SYNGAP1,SYNGAP1-AS1 | c.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 |
6 | g.33443828G>T | CA363632563 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33443829C>A | CA363632577 | SYNGAP1,SYNGAP1-AS1 | c.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 |
6 | g.33443829C= | CA1620014808 | SYNGAP1,SYNGAP1-AS1 | c.3019C= (p.Gln1007=) c.3277C= (p.Gln1093=) c.3235C= (p.Gln1079=) c.3100C= (p.Gln1034=) c.3232C= (p.Gln1078=) n.329+2777G= | |
6 | g.33443829C>G | CA363632573 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33443829C>T | CA363632570 | SYNGAP1,SYNGAP1-AS1 | c.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 |
6 | g.33443830A>C | CA363632579 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33443830A>G | CA363632589 | SYNGAP1,SYNGAP1-AS1 | c.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 |
6 | g.33443830A>T | CA363632590 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33443831G>A | CA449836213 | SYNGAP1,SYNGAP1-AS1 | c.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 |
6 | g.33443831G>C | CA363632592 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33443831G>T | CA363632595 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33443832T>A | CA363632598 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33443832T>C | CA363632601 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33443832T>G | CA363632605 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33443833C>A | CA363632608 | SYNGAP1,SYNGAP1-AS1 | c.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 |
6 | g.33443833C>G | CA363632613 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33443833C>T | CA363632616 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33443834C>A | CA449836214 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33443834C= | CA1620014809 | SYNGAP1,SYNGAP1-AS1 | c.3024C= (p.Ser1008=) c.3282C= (p.Ser1094=) c.3240C= (p.Ser1080=) c.3105C= (p.Ser1035=) c.3237C= (p.Ser1079=) n.329+2772G= | |
6 | g.33443834C>G | CA449836215 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33443834C>T | CA3759009 | SYNGAP1,SYNGAP1-AS1 | c.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 |
6 | g.33443835C>A | CA363632625 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33443835C= | CA1620014810 | SYNGAP1,SYNGAP1-AS1 | c.3025C= (p.Pro1009=) c.3283C= (p.Pro1095=) c.3241C= (p.Pro1081=) c.3106C= (p.Pro1036=) c.3238C= (p.Pro1080=) n.329+2771G= | |
6 | g.33443835C>G | CA363632629 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33443835C>T | CA363632623 | SYNGAP1,SYNGAP1-AS1 | c.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 |
6 | g.33443836C>A | CA363632634 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33443836C= | CA1620014811 | SYNGAP1,SYNGAP1-AS1 | c.3026C= (p.Pro1009=) c.3284C= (p.Pro1095=) c.3242C= (p.Pro1081=) c.3107C= (p.Pro1036=) c.3239C= (p.Pro1080=) n.329+2770G= | |
6 | g.33443836C>G | CA363632638 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33443836C>T | CA363632641 | SYNGAP1,SYNGAP1-AS1 | c.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 |
6 | g.33443837A= | CA1620014812 | SYNGAP1,SYNGAP1-AS1 | c.3027A= (p.Pro1009=) c.3285A= (p.Pro1095=) c.3243A= (p.Pro1081=) c.3108A= (p.Pro1036=) c.3240A= (p.Pro1080=) n.329+2769T= | |
6 | g.33443837A>C | CA449836216 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33443837A>G | CA449836217 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33443837A>T | CA449836218 | SYNGAP1,SYNGAP1-AS1 | c.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 |
6 | g.33443838G>A | CA363632645 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33443838G>C | CA363632649 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33443838G= | CA1620014813 | SYNGAP1,SYNGAP1-AS1 | c.3028G= (p.Glu1010=) c.3286G= (p.Glu1096=) c.3244G= (p.Glu1082=) c.3109G= (p.Glu1037=) c.3241G= (p.Glu1081=) n.329+2768C= | |
6 | g.33443838G>T | CA363632651 | SYNGAP1,SYNGAP1-AS1 | c.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 |
6 | g.33443839A>C | CA363632669 | SYNGAP1,SYNGAP1-AS1 | c.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 |
6 | g.33443839A>G | CA363632659 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33443839A>T | CA363632663 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33443840G>A | CA449836219 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33443840G>C | CA363632672 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33443840G>T | CA363632676 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33443841C>A | CA363632680 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33443841C>G | CA363632682 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33443841C>T | CA363632683 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33443842del | CA2770567271 | SYNGAP1,SYNGAP1-AS1 | c.3032del (p.Pro1011GlnfsTer?) c.3290del (p.Pro1097GlnfsTer?) c.3248del (p.Pro1083GlnfsTer?) c.3113del (p.Pro1038GlnfsTer?) c.3245del (p.Pro1082GlnfsTer?) n.329+2765del | |
6 | g.33443842C>A | CA363632684 | SYNGAP1,SYNGAP1-AS1 | c.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 |
6 | g.33443842C>G | CA363632686 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33443842C>T | CA363632685 | SYNGAP1,SYNGAP1-AS1 | c.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 |
6 | g.33443843A>C | CA449836221 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33443843A>G | CA449836222 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33443843A>T | CA449836223 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33443844A>C | CA363632690 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33443844A>G | CA363632699 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33443844A>T | CA363632702 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33443845G>A | CA363632707 | SYNGAP1,SYNGAP1-AS1 | c.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 |
6 | g.33443845G>C | CA363632711 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33443845G= | CA1620014814 | SYNGAP1,SYNGAP1-AS1 | c.3035G= (p.Ser1012=) c.3293G= (p.Ser1098=) c.3251G= (p.Ser1084=) c.3116G= (p.Ser1039=) c.3248G= (p.Ser1083=) n.329+2761C= | |
6 | g.33443845G>T | CA363632712 | SYNGAP1,SYNGAP1-AS1 | c.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 |
6 | g.33443846T>A | CA363632717 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33443846T>C | CA449836228 | SYNGAP1,SYNGAP1-AS1 | c.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 |
6 | g.33443846T>G | CA363632720 | SYNGAP1,SYNGAP1-AS1 | c.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 |
6 | g.33443847T>A | CA363632723 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33443847T>C | CA363632725 | SYNGAP1,SYNGAP1-AS1 | c.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 |
6 | g.33443847T>G | CA363632726 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33443848A= | CA1620014815 | SYNGAP1,SYNGAP1-AS1 | c.3038A= (p.Tyr1013=) c.3296A= (p.Tyr1099=) c.3254A= (p.Tyr1085=) c.3119A= (p.Tyr1040=) c.3251A= (p.Tyr1084=) n.329+2758T= | |
6 | g.33443848A>C | CA363632728 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33443848A>G | CA3759010 | SYNGAP1,SYNGAP1-AS1 | c.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 |
6 | g.33443848A>T | CA363632727 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33443849T>A | CA363632730 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33443849T>C | CA3759011 | SYNGAP1,SYNGAP1-AS1 | c.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 |
6 | g.33443849T>G | CA363632731 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33443849T= | CA1620014816 | SYNGAP1,SYNGAP1-AS1 | c.3039T= (p.Tyr1013=) c.3297T= (p.Tyr1099=) c.3255T= (p.Tyr1085=) c.3120T= (p.Tyr1040=) c.3252T= (p.Tyr1084=) n.329+2757A= | |
6 | g.33443850G>A | CA363632737 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33443850G>C | CA363632740 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33443850G>T | CA363632742 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33443851G>A | CA363632746 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33443851G>C | CA363632748 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33443851G>T | CA363632752 | SYNGAP1,SYNGAP1-AS1 | c.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 |
6 | g.33443852C>A | CA449836233 | SYNGAP1,SYNGAP1-AS1 | c.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 |
6 | g.33443852C= | CA1620014817 | SYNGAP1,SYNGAP1-AS1 | c.3042C= (p.Gly1014=) c.3300C= (p.Gly1100=) c.3258C= (p.Gly1086=) c.3123C= (p.Gly1041=) c.3255C= (p.Gly1085=) n.329+2754G= | |
6 | g.33443852C>G | CA449836232 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33443852C>T | CA3759012 | SYNGAP1,SYNGAP1-AS1 | c.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 |
6 | g.33443855del | CA2573140296 | SYNGAP1,SYNGAP1-AS1 | c.3045del (p.Ala1016ProfsTer28) c.3303del (p.Ala1102ProfsTer28) c.3261del (p.Ala1088ProfsTer28) c.3126del (p.Ala1043ProfsTer28) c.3258del (p.Ala1087ProfsTer28) n.329+2754del | ClinVar dbSNP |
6 | g.33443853C>A | CA363632753 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33443853C>G | CA363632754 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33443853C>T | CA363632755 | SYNGAP1,SYNGAP1-AS1 | c.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 |
6 | g.33443854C>A | CA363632757 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33443854C>G | CA363632758 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33443854C>T | CA363632760 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33443855C>A | CA449836236 | SYNGAP1,SYNGAP1-AS1 | c.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 |
6 | g.33443855C= | CA1620014818 | SYNGAP1,SYNGAP1-AS1 | c.3045C= (p.Pro1015=) c.3303C= (p.Pro1101=) c.3261C= (p.Pro1087=) c.3126C= (p.Pro1042=) c.3258C= (p.Pro1086=) n.329+2751G= | |
6 | g.33443855C>G | CA449836237 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33443855C>T | CA3759013 | SYNGAP1,SYNGAP1-AS1 | c.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 |
6 | g.33443856G>A | CA3759014 | SYNGAP1,SYNGAP1-AS1 | c.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 |
6 | g.33443856G>C | CA363632765 | SYNGAP1,SYNGAP1-AS1 | c.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 |
6 | g.33443856G= | CA1620014819 | SYNGAP1,SYNGAP1-AS1 | c.3046G= (p.Ala1016=) c.3304G= (p.Ala1102=) c.3262G= (p.Ala1088=) c.3127G= (p.Ala1043=) c.3259G= (p.Ala1087=) n.329+2750C= | |
6 | g.33443856G>T | CA363632768 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33443857C>A | CA363632773 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33443857C>G | CA363632775 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33443857C>T | CA363632779 | SYNGAP1,SYNGAP1-AS1 | c.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 |
6 | g.33443858C>A | CA449836241 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33443858C= | CA1620014820 | SYNGAP1,SYNGAP1-AS1 | c.3048C= (p.Ala1016=) c.3306C= (p.Ala1102=) c.3264C= (p.Ala1088=) c.3129C= (p.Ala1043=) c.3261C= (p.Ala1087=) n.329+2748G= | |
6 | g.33443858C>G | CA449836242 | SYNGAP1,SYNGAP1-AS1 | c.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 |
6 | g.33443858C>T | CA449836243 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33443859C>A | CA363632784 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33443859C= | CA1620014821 | SYNGAP1,SYNGAP1-AS1 | c.3049C= (p.Arg1017=) c.3307C= (p.Arg1103=) c.3265C= (p.Arg1089=) c.3130C= (p.Arg1044=) c.3262C= (p.Arg1088=) n.329+2747G= | |
6 | g.33443859C>G | CA363632787 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33443859C>T | CA363632788 | SYNGAP1,SYNGAP1-AS1 | c.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 |
6 | g.33443860G>A | CA3759015 | SYNGAP1,SYNGAP1-AS1 | c.3050G>A (p.Arg1017His) c.3308G>A (p.Arg1103His) c.3266G>A (p.Arg1089His) c.3131G>A (p.Arg1044His) c.3263G>A (p.Arg1088His) n.329+2746C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
6 | g.33443860G>C | CA363632794 | SYNGAP1,SYNGAP1-AS1 | c.3050G>C (p.Arg1017Pro) c.3308G>C (p.Arg1103Pro) c.3266G>C (p.Arg1089Pro) c.3131G>C (p.Arg1044Pro) c.3263G>C (p.Arg1088Pro) n.329+2746C>G | |
6 | g.33443860G= | CA1620014822 | SYNGAP1,SYNGAP1-AS1 | c.3050G= (p.Arg1017=) c.3308G= (p.Arg1103=) c.3266G= (p.Arg1089=) c.3131G= (p.Arg1044=) c.3263G= (p.Arg1088=) n.329+2746C= | |
6 | g.33443860G>T | CA363632796 | SYNGAP1,SYNGAP1-AS1 | c.3050G>T (p.Arg1017Leu) c.3308G>T (p.Arg1103Leu) c.3266G>T (p.Arg1089Leu) c.3131G>T (p.Arg1044Leu) c.3263G>T (p.Arg1088Leu) n.329+2746C>A | ClinVar dbSNP gnomAD v4 |