Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.33443507_33443510del | CA2580074387 | SYNGAP1,SYNGAP1-AS1 | c.2697_2700del (p.Ser899ArgfsTer?) c.2955_2958del (p.Ser985ArgfsTer?) c.2913_2916del (p.Ser971ArgfsTer?) c.2778_2781del (p.Ser926ArgfsTer?) c.2910_2913del (p.Ser970ArgfsTer?) n.329+3099_329+3102del | ClinVar |
6 | g.33443507T>A | CA363629936 | SYNGAP1,SYNGAP1-AS1 | c.2697T>A (p.Ser899Arg) c.2955T>A (p.Ser985Arg) c.2913T>A (p.Ser971Arg) c.2778T>A (p.Ser926Arg) c.2910T>A (p.Ser970Arg) n.329+3099A>T | |
6 | g.33443507T>C | CA450104174 | SYNGAP1,SYNGAP1-AS1 | c.2697T>C (p.Ser899=) c.2955T>C (p.Ser985=) c.2913T>C (p.Ser971=) c.2778T>C (p.Ser926=) c.2910T>C (p.Ser970=) n.329+3099A>G | ClinVar dbSNP |
6 | g.33443507T>G | CA363629939 | SYNGAP1,SYNGAP1-AS1 | c.2697T>G (p.Ser899Arg) c.2955T>G (p.Ser985Arg) c.2913T>G (p.Ser971Arg) c.2778T>G (p.Ser926Arg) c.2910T>G (p.Ser970Arg) n.329+3099A>C | |
6 | g.33443507T= | CA1620014662 | SYNGAP1,SYNGAP1-AS1 | c.2697T= (p.Ser899=) c.2955T= (p.Ser985=) c.2913T= (p.Ser971=) c.2778T= (p.Ser926=) c.2910T= (p.Ser970=) n.329+3099A= | |
6 | g.33443508G>A | CA363629955 | SYNGAP1,SYNGAP1-AS1 | c.2698G>A (p.Glu900Lys) c.2956G>A (p.Glu986Lys) c.2914G>A (p.Glu972Lys) c.2779G>A (p.Glu927Lys) c.2911G>A (p.Glu971Lys) n.329+3098C>T | |
6 | g.33443508G>C | CA363629946 | SYNGAP1,SYNGAP1-AS1 | c.2698G>C (p.Glu900Gln) c.2956G>C (p.Glu986Gln) c.2914G>C (p.Glu972Gln) c.2779G>C (p.Glu927Gln) c.2911G>C (p.Glu971Gln) n.329+3098C>G | |
6 | g.33443508G= | CA1620014663 | SYNGAP1,SYNGAP1-AS1 | c.2698G= (p.Glu900=) c.2956G= (p.Glu986=) c.2914G= (p.Glu972=) c.2779G= (p.Glu927=) c.2911G= (p.Glu971=) n.329+3098C= | |
6 | g.33443508G>T | CA363629944 | SYNGAP1,SYNGAP1-AS1 | c.2698G>T (p.Glu900Ter) c.2956G>T (p.Glu986Ter) c.2914G>T (p.Glu972Ter) c.2779G>T (p.Glu927Ter) c.2911G>T (p.Glu971Ter) n.329+3098C>A | dbSNP |
6 | g.33443509A>C | CA363629978 | SYNGAP1,SYNGAP1-AS1 | c.2699A>C (p.Glu900Ala) c.2957A>C (p.Glu986Ala) c.2915A>C (p.Glu972Ala) c.2780A>C (p.Glu927Ala) c.2912A>C (p.Glu971Ala) n.329+3097T>G | |
6 | g.33443509A>G | CA363629981 | SYNGAP1,SYNGAP1-AS1 | c.2699A>G (p.Glu900Gly) c.2957A>G (p.Glu986Gly) c.2915A>G (p.Glu972Gly) c.2780A>G (p.Glu927Gly) c.2912A>G (p.Glu971Gly) n.329+3097T>C | |
6 | g.33443509A>T | CA363629984 | SYNGAP1,SYNGAP1-AS1 | c.2699A>T (p.Glu900Val) c.2957A>T (p.Glu986Val) c.2915A>T (p.Glu972Val) c.2780A>T (p.Glu927Val) c.2912A>T (p.Glu971Val) n.329+3097T>A | |
6 | g.33443510G>A | CA450104176 | SYNGAP1,SYNGAP1-AS1 | c.2700G>A (p.Glu900=) c.2958G>A (p.Glu986=) c.2916G>A (p.Glu972=) c.2781G>A (p.Glu927=) c.2913G>A (p.Glu971=) n.329+3096C>T | gnomAD v4 |
6 | g.33443510G>C | CA363629989 | SYNGAP1,SYNGAP1-AS1 | c.2700G>C (p.Glu900Asp) c.2958G>C (p.Glu986Asp) c.2916G>C (p.Glu972Asp) c.2781G>C (p.Glu927Asp) c.2913G>C (p.Glu971Asp) n.329+3096C>G | |
6 | g.33443510G>T | CA363629992 | SYNGAP1,SYNGAP1-AS1 | c.2700G>T (p.Glu900Asp) c.2958G>T (p.Glu986Asp) c.2916G>T (p.Glu972Asp) c.2781G>T (p.Glu927Asp) c.2913G>T (p.Glu971Asp) n.329+3096C>A | |
6 | g.33443511G>A | CA363629994 | SYNGAP1,SYNGAP1-AS1 | c.2701G>A (p.Asp901Asn) c.2959G>A (p.Asp987Asn) c.2917G>A (p.Asp973Asn) c.2782G>A (p.Asp928Asn) c.2914G>A (p.Asp972Asn) n.329+3095C>T | COSMIC COSMIC |
6 | g.33443511G>C | CA363629995 | SYNGAP1,SYNGAP1-AS1 | c.2701G>C (p.Asp901His) c.2959G>C (p.Asp987His) c.2917G>C (p.Asp973His) c.2782G>C (p.Asp928His) c.2914G>C (p.Asp972His) n.329+3095C>G | |
6 | g.33443511G>T | CA363629996 | SYNGAP1,SYNGAP1-AS1 | c.2701G>T (p.Asp901Tyr) c.2959G>T (p.Asp987Tyr) c.2917G>T (p.Asp973Tyr) c.2782G>T (p.Asp928Tyr) c.2914G>T (p.Asp972Tyr) n.329+3095C>A | |
6 | g.33443512A>C | CA363629997 | SYNGAP1,SYNGAP1-AS1 | c.2702A>C (p.Asp901Ala) c.2960A>C (p.Asp987Ala) c.2918A>C (p.Asp973Ala) c.2783A>C (p.Asp928Ala) c.2915A>C (p.Asp972Ala) n.329+3094T>G | |
6 | g.33443512A>G | CA363629999 | SYNGAP1,SYNGAP1-AS1 | c.2702A>G (p.Asp901Gly) c.2960A>G (p.Asp987Gly) c.2918A>G (p.Asp973Gly) c.2783A>G (p.Asp928Gly) c.2915A>G (p.Asp972Gly) n.329+3094T>C | ClinVar dbSNP |
6 | g.33443512A>T | CA363630001 | SYNGAP1,SYNGAP1-AS1 | c.2702A>T (p.Asp901Val) c.2960A>T (p.Asp987Val) c.2918A>T (p.Asp973Val) c.2783A>T (p.Asp928Val) c.2915A>T (p.Asp972Val) n.329+3094T>A | |
6 | g.33443513C>A | CA3758968 | SYNGAP1,SYNGAP1-AS1 | c.2703C>A (p.Asp901Glu) c.2961C>A (p.Asp987Glu) c.2919C>A (p.Asp973Glu) c.2784C>A (p.Asp928Glu) c.2916C>A (p.Asp972Glu) n.329+3093G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.33443513C= | CA1620014664 | SYNGAP1,SYNGAP1-AS1 | c.2703C= (p.Asp901=) c.2961C= (p.Asp987=) c.2919C= (p.Asp973=) c.2784C= (p.Asp928=) c.2916C= (p.Asp972=) n.329+3093G= | |
6 | g.33443513C>G | CA363630014 | SYNGAP1,SYNGAP1-AS1 | c.2703C>G (p.Asp901Glu) c.2961C>G (p.Asp987Glu) c.2919C>G (p.Asp973Glu) c.2784C>G (p.Asp928Glu) c.2916C>G (p.Asp972Glu) n.329+3093G>C | |
6 | g.33443513C>T | CA450104178 | SYNGAP1,SYNGAP1-AS1 | c.2703C>T (p.Asp901=) c.2961C>T (p.Asp987=) c.2919C>T (p.Asp973=) c.2784C>T (p.Asp928=) c.2916C>T (p.Asp972=) n.329+3093G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
6 | g.33443514C>A | CA363630020 | SYNGAP1,SYNGAP1-AS1 | c.2704C>A (p.Leu902Ile) c.2962C>A (p.Leu988Ile) c.2920C>A (p.Leu974Ile) c.2785C>A (p.Leu929Ile) c.2917C>A (p.Leu973Ile) n.329+3092G>T | |
6 | g.33443514C= | CA1620014665 | SYNGAP1,SYNGAP1-AS1 | c.2704C= (p.Leu902=) c.2962C= (p.Leu988=) c.2920C= (p.Leu974=) c.2785C= (p.Leu929=) c.2917C= (p.Leu973=) n.329+3092G= | |
6 | g.33443514C>G | CA363630021 | SYNGAP1,SYNGAP1-AS1 | c.2704C>G (p.Leu902Val) c.2962C>G (p.Leu988Val) c.2920C>G (p.Leu974Val) c.2785C>G (p.Leu929Val) c.2917C>G (p.Leu973Val) n.329+3092G>C | |
6 | g.33443514C>T | CA363630017 | SYNGAP1,SYNGAP1-AS1 | c.2704C>T (p.Leu902Phe) c.2962C>T (p.Leu988Phe) c.2920C>T (p.Leu974Phe) c.2785C>T (p.Leu929Phe) c.2917C>T (p.Leu973Phe) n.329+3092G>A | ClinVar dbSNP gnomAD v4 |
6 | g.33443515T>A | CA363630022 | SYNGAP1,SYNGAP1-AS1 | c.2705T>A (p.Leu902His) c.2963T>A (p.Leu988His) c.2921T>A (p.Leu974His) c.2786T>A (p.Leu929His) c.2918T>A (p.Leu973His) n.329+3091A>T | |
6 | g.33443515T>C | CA363630025 | SYNGAP1,SYNGAP1-AS1 | c.2705T>C (p.Leu902Pro) c.2963T>C (p.Leu988Pro) c.2921T>C (p.Leu974Pro) c.2786T>C (p.Leu929Pro) c.2918T>C (p.Leu973Pro) n.329+3091A>G | |
6 | g.33443515T>G | CA363630024 | SYNGAP1,SYNGAP1-AS1 | c.2705T>G (p.Leu902Arg) c.2963T>G (p.Leu988Arg) c.2921T>G (p.Leu974Arg) c.2786T>G (p.Leu929Arg) c.2918T>G (p.Leu973Arg) n.329+3091A>C | |
6 | g.33443516C>A | CA450104180 | SYNGAP1,SYNGAP1-AS1 | c.2706C>A (p.Leu902=) c.2964C>A (p.Leu988=) c.2922C>A (p.Leu974=) c.2787C>A (p.Leu929=) c.2919C>A (p.Leu973=) n.329+3090G>T | |
6 | g.33443516C>G | CA450104181 | SYNGAP1,SYNGAP1-AS1 | c.2706C>G (p.Leu902=) c.2964C>G (p.Leu988=) c.2922C>G (p.Leu974=) c.2787C>G (p.Leu929=) c.2919C>G (p.Leu973=) n.329+3090G>C | |
6 | g.33443516C>T | CA450104182 | SYNGAP1,SYNGAP1-AS1 | c.2706C>T (p.Leu902=) c.2964C>T (p.Leu988=) c.2922C>T (p.Leu974=) c.2787C>T (p.Leu929=) c.2919C>T (p.Leu973=) n.329+3090G>A | |
6 | g.33443517T>A | CA363630027 | SYNGAP1,SYNGAP1-AS1 | c.2707T>A (p.Ser903Thr) c.2965T>A (p.Ser989Thr) c.2923T>A (p.Ser975Thr) c.2788T>A (p.Ser930Thr) c.2920T>A (p.Ser974Thr) n.329+3089A>T | |
6 | g.33443517T>C | CA363630028 | SYNGAP1,SYNGAP1-AS1 | c.2707T>C (p.Ser903Pro) c.2965T>C (p.Ser989Pro) c.2923T>C (p.Ser975Pro) c.2788T>C (p.Ser930Pro) c.2920T>C (p.Ser974Pro) n.329+3089A>G | |
6 | g.33443517T>G | CA363630031 | SYNGAP1,SYNGAP1-AS1 | c.2707T>G (p.Ser903Ala) c.2965T>G (p.Ser989Ala) c.2923T>G (p.Ser975Ala) c.2788T>G (p.Ser930Ala) c.2920T>G (p.Ser974Ala) n.329+3089A>C | |
6 | g.33443518C>A | CA363630033 | SYNGAP1,SYNGAP1-AS1 | c.2708C>A (p.Ser903Tyr) c.2966C>A (p.Ser989Tyr) c.2924C>A (p.Ser975Tyr) c.2789C>A (p.Ser930Tyr) c.2921C>A (p.Ser974Tyr) n.329+3088G>T | |
6 | g.33443518C= | CA1620014666 | SYNGAP1,SYNGAP1-AS1 | c.2708C= (p.Ser903=) c.2966C= (p.Ser989=) c.2924C= (p.Ser975=) c.2789C= (p.Ser930=) c.2921C= (p.Ser974=) n.329+3088G= | |
6 | g.33443518C>G | CA137073202 | SYNGAP1,SYNGAP1-AS1 | c.2708C>G (p.Ser903Cys) c.2966C>G (p.Ser989Cys) c.2924C>G (p.Ser975Cys) c.2789C>G (p.Ser930Cys) c.2921C>G (p.Ser974Cys) n.329+3088G>C | dbSNP |
6 | g.33443518C>T | CA363630038 | SYNGAP1,SYNGAP1-AS1 | c.2708C>T (p.Ser903Phe) c.2966C>T (p.Ser989Phe) c.2924C>T (p.Ser975Phe) c.2789C>T (p.Ser930Phe) c.2921C>T (p.Ser974Phe) n.329+3088G>A | COSMIC COSMIC |
6 | g.33443519T>A | CA450104183 | SYNGAP1,SYNGAP1-AS1 | c.2709T>A (p.Ser903=) c.2967T>A (p.Ser989=) c.2925T>A (p.Ser975=) c.2790T>A (p.Ser930=) c.2922T>A (p.Ser974=) n.329+3087A>T | |
6 | g.33443519T>C | CA450104185 | SYNGAP1,SYNGAP1-AS1 | c.2709T>C (p.Ser903=) c.2967T>C (p.Ser989=) c.2925T>C (p.Ser975=) c.2790T>C (p.Ser930=) c.2922T>C (p.Ser974=) n.329+3087A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.33443519T>G | CA450104184 | SYNGAP1,SYNGAP1-AS1 | c.2709T>G (p.Ser903=) c.2967T>G (p.Ser989=) c.2925T>G (p.Ser975=) c.2790T>G (p.Ser930=) c.2922T>G (p.Ser974=) n.329+3087A>C | |
6 | g.33443519T= | CA1620014667 | SYNGAP1,SYNGAP1-AS1 | c.2709T= (p.Ser903=) c.2967T= (p.Ser989=) c.2925T= (p.Ser975=) c.2790T= (p.Ser930=) c.2922T= (p.Ser974=) n.329+3087A= | |
6 | g.33443520T>A | CA363630040 | SYNGAP1,SYNGAP1-AS1 | c.2710T>A (p.Ser904Thr) c.2968T>A (p.Ser990Thr) c.2926T>A (p.Ser976Thr) c.2791T>A (p.Ser931Thr) c.2923T>A (p.Ser975Thr) n.329+3086A>T | |
6 | g.33443520T>C | CA363630043 | SYNGAP1,SYNGAP1-AS1 | c.2710T>C (p.Ser904Pro) c.2968T>C (p.Ser990Pro) c.2926T>C (p.Ser976Pro) c.2791T>C (p.Ser931Pro) c.2923T>C (p.Ser975Pro) n.329+3086A>G | |
6 | g.33443520T>G | CA363630046 | SYNGAP1,SYNGAP1-AS1 | c.2710T>G (p.Ser904Ala) c.2968T>G (p.Ser990Ala) c.2926T>G (p.Ser976Ala) c.2791T>G (p.Ser931Ala) c.2923T>G (p.Ser975Ala) n.329+3086A>C | |
6 | g.33443521C>A | CA363630049 | SYNGAP1,SYNGAP1-AS1 | c.2711C>A (p.Ser904Tyr) c.2969C>A (p.Ser990Tyr) c.2927C>A (p.Ser976Tyr) c.2792C>A (p.Ser931Tyr) c.2924C>A (p.Ser975Tyr) n.329+3085G>T | |
6 | g.33443521C= | CA1620014668 | SYNGAP1,SYNGAP1-AS1 | c.2711C= (p.Ser904=) c.2969C= (p.Ser990=) c.2927C= (p.Ser976=) c.2792C= (p.Ser931=) c.2924C= (p.Ser975=) n.329+3085G= | |
6 | g.33443521C>G | CA363630052 | SYNGAP1,SYNGAP1-AS1 | c.2711C>G (p.Ser904Cys) c.2969C>G (p.Ser990Cys) c.2927C>G (p.Ser976Cys) c.2792C>G (p.Ser931Cys) c.2924C>G (p.Ser975Cys) n.329+3085G>C | |
6 | g.33443521C>T | CA137073203 | SYNGAP1,SYNGAP1-AS1 | c.2711C>T (p.Ser904Phe) c.2969C>T (p.Ser990Phe) c.2927C>T (p.Ser976Phe) c.2792C>T (p.Ser931Phe) c.2924C>T (p.Ser975Phe) n.329+3085G>A | dbSNP |
6 | g.33443522del | CA2739272944 | SYNGAP1,SYNGAP1-AS1 | c.2712del (p.Val906SerfsTer?) c.2970del (p.Val992SerfsTer?) c.2928del (p.Val978SerfsTer?) c.2793del (p.Val933SerfsTer?) c.2925del (p.Val977SerfsTer?) n.329+3085del | ClinVar |
6 | g.33443522C>A | CA450104189 | SYNGAP1,SYNGAP1-AS1 | c.2712C>A (p.Ser904=) c.2970C>A (p.Ser990=) c.2928C>A (p.Ser976=) c.2793C>A (p.Ser931=) c.2925C>A (p.Ser975=) n.329+3084G>T | |
6 | g.33443522C= | CA1620014669 | SYNGAP1,SYNGAP1-AS1 | c.2712C= (p.Ser904=) c.2970C= (p.Ser990=) c.2928C= (p.Ser976=) c.2793C= (p.Ser931=) c.2925C= (p.Ser975=) n.329+3084G= | |
6 | g.33443522C>G | CA450104190 | SYNGAP1,SYNGAP1-AS1 | c.2712C>G (p.Ser904=) c.2970C>G (p.Ser990=) c.2928C>G (p.Ser976=) c.2793C>G (p.Ser931=) c.2925C>G (p.Ser975=) n.329+3084G>C | |
6 | g.33443522C>T | CA155638 | SYNGAP1,SYNGAP1-AS1 | c.2712C>T (p.Ser904=) c.2970C>T (p.Ser990=) c.2928C>T (p.Ser976=) c.2793C>T (p.Ser931=) c.2925C>T (p.Ser975=) n.329+3084G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.33443522_33443523delinsCG | CA1620014670 | SYNGAP1,SYNGAP1-AS1 | c.2712_2713delinsCG (p.Ser904=) c.2970_2971delinsCG (p.Ser990=) c.2928_2929delinsCG (p.Ser976=) c.2793_2794delinsCG (p.Ser931=) c.2925_2926delinsCG (p.Ser975=) n.329+3083_329+3084delinsCG | |
6 | g.33443523G>A | CA137073211 | SYNGAP1,SYNGAP1-AS1 | c.2713G>A (p.Gly905Arg) c.2971G>A (p.Gly991Arg) c.2929G>A (p.Gly977Arg) c.2794G>A (p.Gly932Arg) c.2926G>A (p.Gly976Arg) n.329+3083C>T | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
6 | g.33443523G>C | CA363630058 | SYNGAP1,SYNGAP1-AS1 | c.2713G>C (p.Gly905Arg) c.2971G>C (p.Gly991Arg) c.2929G>C (p.Gly977Arg) c.2794G>C (p.Gly932Arg) c.2926G>C (p.Gly976Arg) n.329+3083C>G | |
6 | g.33443523G= | CA1620014671 | SYNGAP1,SYNGAP1-AS1 | c.2713G= (p.Gly905=) c.2971G= (p.Gly991=) c.2929G= (p.Gly977=) c.2794G= (p.Gly932=) c.2926G= (p.Gly976=) n.329+3083C= | |
6 | g.33443523G>T | CA363630059 | SYNGAP1,SYNGAP1-AS1 | c.2713G>T (p.Gly905Trp) c.2971G>T (p.Gly991Trp) c.2929G>T (p.Gly977Trp) c.2794G>T (p.Gly932Trp) c.2926G>T (p.Gly976Trp) n.329+3083C>A | |
6 | g.33443526del | CA1139659344 | SYNGAP1,SYNGAP1-AS1 | c.2716del (p.Val906SerfsTer?) c.2974del (p.Val992SerfsTer?) c.2932del (p.Val978SerfsTer?) c.2797del (p.Val933SerfsTer?) c.2929del (p.Val977SerfsTer?) n.329+3083del | ClinVar dbSNP |
6 | g.33443524G>A | CA363630061 | SYNGAP1,SYNGAP1-AS1 | c.2714G>A (p.Gly905Glu) c.2972G>A (p.Gly991Glu) c.2930G>A (p.Gly977Glu) c.2795G>A (p.Gly932Glu) c.2927G>A (p.Gly976Glu) n.329+3082C>T | COSMIC COSMIC |
6 | g.33443524G>C | CA363630063 | SYNGAP1,SYNGAP1-AS1 | c.2714G>C (p.Gly905Ala) c.2972G>C (p.Gly991Ala) c.2930G>C (p.Gly977Ala) c.2795G>C (p.Gly932Ala) c.2927G>C (p.Gly976Ala) n.329+3082C>G | gnomAD v4 |
6 | g.33443524G>T | CA363630064 | SYNGAP1,SYNGAP1-AS1 | c.2714G>T (p.Gly905Val) c.2972G>T (p.Gly991Val) c.2930G>T (p.Gly977Val) c.2795G>T (p.Gly932Val) c.2927G>T (p.Gly976Val) n.329+3082C>A | |
6 | g.33443525G>A | CA450104193 | SYNGAP1,SYNGAP1-AS1 | c.2715G>A (p.Gly905=) c.2973G>A (p.Gly991=) c.2931G>A (p.Gly977=) c.2796G>A (p.Gly932=) c.2928G>A (p.Gly976=) n.329+3081C>T | |
6 | g.33443525G>C | CA450104195 | SYNGAP1,SYNGAP1-AS1 | c.2715G>C (p.Gly905=) c.2973G>C (p.Gly991=) c.2931G>C (p.Gly977=) c.2796G>C (p.Gly932=) c.2928G>C (p.Gly976=) n.329+3081C>G | |
6 | g.33443525G>T | CA450104194 | SYNGAP1,SYNGAP1-AS1 | c.2715G>T (p.Gly905=) c.2973G>T (p.Gly991=) c.2931G>T (p.Gly977=) c.2796G>T (p.Gly932=) c.2928G>T (p.Gly976=) n.329+3081C>A | |
6 | g.33443526G>A | CA3758969 | SYNGAP1,SYNGAP1-AS1 | c.2716G>A (p.Val906Ile) c.2974G>A (p.Val992Ile) c.2932G>A (p.Val978Ile) c.2797G>A (p.Val933Ile) c.2929G>A (p.Val977Ile) n.329+3080C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.33443526G>C | CA363630069 | SYNGAP1,SYNGAP1-AS1 | c.2716G>C (p.Val906Leu) c.2974G>C (p.Val992Leu) c.2932G>C (p.Val978Leu) c.2797G>C (p.Val933Leu) c.2929G>C (p.Val977Leu) n.329+3080C>G | |
6 | g.33443526G= | CA1620014672 | SYNGAP1,SYNGAP1-AS1 | c.2716G= (p.Val906=) c.2974G= (p.Val992=) c.2932G= (p.Val978=) c.2797G= (p.Val933=) c.2929G= (p.Val977=) n.329+3080C= | |
6 | g.33443526G>T | CA363630073 | SYNGAP1,SYNGAP1-AS1 | c.2716G>T (p.Val906Phe) c.2974G>T (p.Val992Phe) c.2932G>T (p.Val978Phe) c.2797G>T (p.Val933Phe) c.2929G>T (p.Val977Phe) n.329+3080C>A | |
6 | g.33443527T>A | CA363630084 | SYNGAP1,SYNGAP1-AS1 | c.2717T>A (p.Val906Asp) c.2975T>A (p.Val992Asp) c.2933T>A (p.Val978Asp) c.2798T>A (p.Val933Asp) c.2930T>A (p.Val977Asp) n.329+3079A>T | |
6 | g.33443527T>C | CA363630086 | SYNGAP1,SYNGAP1-AS1 | c.2717T>C (p.Val906Ala) c.2975T>C (p.Val992Ala) c.2933T>C (p.Val978Ala) c.2798T>C (p.Val933Ala) c.2930T>C (p.Val977Ala) n.329+3079A>G | |
6 | g.33443527T>G | CA363630088 | SYNGAP1,SYNGAP1-AS1 | c.2717T>G (p.Val906Gly) c.2975T>G (p.Val992Gly) c.2933T>G (p.Val978Gly) c.2798T>G (p.Val933Gly) c.2930T>G (p.Val977Gly) n.329+3079A>C | |
6 | g.33443527T= | CA1620014673 | SYNGAP1,SYNGAP1-AS1 | c.2717T= (p.Val906=) c.2975T= (p.Val992=) c.2933T= (p.Val978=) c.2798T= (p.Val933=) c.2930T= (p.Val977=) n.329+3079A= | |
6 | g.33443528C>A | CA450104198 | SYNGAP1,SYNGAP1-AS1 | c.2718C>A (p.Val906=) c.2976C>A (p.Val992=) c.2934C>A (p.Val978=) c.2799C>A (p.Val933=) c.2931C>A (p.Val977=) n.329+3078G>T | |
6 | g.33443528C>G | CA450104199 | SYNGAP1,SYNGAP1-AS1 | c.2718C>G (p.Val906=) c.2976C>G (p.Val992=) c.2934C>G (p.Val978=) c.2799C>G (p.Val933=) c.2931C>G (p.Val977=) n.329+3078G>C | ClinVar |
6 | g.33443528C>T | CA450104200 | SYNGAP1,SYNGAP1-AS1 | c.2718C>T (p.Val906=) c.2976C>T (p.Val992=) c.2934C>T (p.Val978=) c.2799C>T (p.Val933=) c.2931C>T (p.Val977=) n.329+3078G>A | gnomAD v4 |
6 | g.33443531dup | CA658822624 | SYNGAP1,SYNGAP1-AS1 | c.2721dup (p.Lys908GlnfsTer10) c.2979dup (p.Lys994GlnfsTer10) c.2937dup (p.Lys980GlnfsTer10) c.2802dup (p.Lys935GlnfsTer10) c.2934dup (p.Lys979GlnfsTer10) n.329+3078dup | ClinVar dbSNP |
6 | g.33443529C>A | CA363630093 | SYNGAP1,SYNGAP1-AS1 | c.2719C>A (p.Pro907Thr) c.2977C>A (p.Pro993Thr) c.2935C>A (p.Pro979Thr) c.2800C>A (p.Pro934Thr) c.2932C>A (p.Pro978Thr) n.329+3077G>T | |
6 | g.33443529C= | CA1620014674 | SYNGAP1,SYNGAP1-AS1 | c.2719C= (p.Pro907=) c.2977C= (p.Pro993=) c.2935C= (p.Pro979=) c.2800C= (p.Pro934=) c.2932C= (p.Pro978=) n.329+3077G= | |
6 | g.33443529C>G | CA363630097 | SYNGAP1,SYNGAP1-AS1 | c.2719C>G (p.Pro907Ala) c.2977C>G (p.Pro993Ala) c.2935C>G (p.Pro979Ala) c.2800C>G (p.Pro934Ala) c.2932C>G (p.Pro978Ala) n.329+3077G>C | |
6 | g.33443529C>T | CA363630089 | SYNGAP1,SYNGAP1-AS1 | c.2719C>T (p.Pro907Ser) c.2977C>T (p.Pro993Ser) c.2935C>T (p.Pro979Ser) c.2800C>T (p.Pro934Ser) c.2932C>T (p.Pro978Ser) n.329+3077G>A | dbSNP gnomAD v2 gnomAD v4 |
6 | g.33443530C>A | CA363630101 | SYNGAP1,SYNGAP1-AS1 | c.2720C>A (p.Pro907His) c.2978C>A (p.Pro993His) c.2936C>A (p.Pro979His) c.2801C>A (p.Pro934His) c.2933C>A (p.Pro978His) n.329+3076G>T | |
6 | g.33443530C>G | CA363630116 | SYNGAP1,SYNGAP1-AS1 | c.2720C>G (p.Pro907Arg) c.2978C>G (p.Pro993Arg) c.2936C>G (p.Pro979Arg) c.2801C>G (p.Pro934Arg) c.2933C>G (p.Pro978Arg) n.329+3076G>C | |
6 | g.33443530C>T | CA363630122 | SYNGAP1,SYNGAP1-AS1 | c.2720C>T (p.Pro907Leu) c.2978C>T (p.Pro993Leu) c.2936C>T (p.Pro979Leu) c.2801C>T (p.Pro934Leu) c.2933C>T (p.Pro978Leu) n.329+3076G>A | |
6 | g.33443531C>A | CA450104203 | SYNGAP1,SYNGAP1-AS1 | c.2721C>A (p.Pro907=) c.2979C>A (p.Pro993=) c.2937C>A (p.Pro979=) c.2802C>A (p.Pro934=) c.2934C>A (p.Pro978=) n.329+3075G>T | |
6 | g.33443531C>G | CA450104204 | SYNGAP1,SYNGAP1-AS1 | c.2721C>G (p.Pro907=) c.2979C>G (p.Pro993=) c.2937C>G (p.Pro979=) c.2802C>G (p.Pro934=) c.2934C>G (p.Pro978=) n.329+3075G>C | |
6 | g.33443531C>T | CA450104205 | SYNGAP1,SYNGAP1-AS1 | c.2721C>T (p.Pro907=) c.2979C>T (p.Pro993=) c.2937C>T (p.Pro979=) c.2802C>T (p.Pro934=) c.2934C>T (p.Pro978=) n.329+3075G>A | ClinVar dbSNP gnomAD v4 |
6 | g.33443532A= | CA1620014675 | SYNGAP1,SYNGAP1-AS1 | c.2722A= (p.Lys908=) c.2980A= (p.Lys994=) c.2938A= (p.Lys980=) c.2803A= (p.Lys935=) c.2935A= (p.Lys979=) n.329+3074T= | |
6 | g.33443532A>C | CA363630135 | SYNGAP1,SYNGAP1-AS1 | c.2722A>C (p.Lys908Gln) c.2980A>C (p.Lys994Gln) c.2938A>C (p.Lys980Gln) c.2803A>C (p.Lys935Gln) c.2935A>C (p.Lys979Gln) n.329+3074T>G | |
6 | g.33443532A>G | CA3758970 | SYNGAP1,SYNGAP1-AS1 | c.2722A>G (p.Lys908Glu) c.2980A>G (p.Lys994Glu) c.2938A>G (p.Lys980Glu) c.2803A>G (p.Lys935Glu) c.2935A>G (p.Lys979Glu) n.329+3074T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.33443532A>T | CA363630141 | SYNGAP1,SYNGAP1-AS1 | c.2722A>T (p.Lys908Ter) c.2980A>T (p.Lys994Ter) c.2938A>T (p.Lys980Ter) c.2803A>T (p.Lys935Ter) c.2935A>T (p.Lys979Ter) n.329+3074T>A | dbSNP |
6 | g.33443533A>C | CA363630147 | SYNGAP1,SYNGAP1-AS1 | c.2723A>C (p.Lys908Thr) c.2981A>C (p.Lys994Thr) c.2939A>C (p.Lys980Thr) c.2804A>C (p.Lys935Thr) c.2936A>C (p.Lys979Thr) n.329+3073T>G | |
6 | g.33443533A>G | CA363630144 | SYNGAP1,SYNGAP1-AS1 | c.2723A>G (p.Lys908Arg) c.2981A>G (p.Lys994Arg) c.2939A>G (p.Lys980Arg) c.2804A>G (p.Lys935Arg) c.2936A>G (p.Lys979Arg) n.329+3073T>C | |
6 | g.33443533A>T | CA363630146 | SYNGAP1,SYNGAP1-AS1 | c.2723A>T (p.Lys908Met) c.2981A>T (p.Lys994Met) c.2939A>T (p.Lys980Met) c.2804A>T (p.Lys935Met) c.2936A>T (p.Lys979Met) n.329+3073T>A | |
6 | g.33443534del | CA2580074389 | SYNGAP1,SYNGAP1-AS1 | c.2724del (p.Lys908AsnfsTer?) c.2982del (p.Lys994AsnfsTer?) c.2940del (p.Lys980AsnfsTer?) c.2805del (p.Lys935AsnfsTer?) c.2937del (p.Lys979AsnfsTer?) n.329+3072del | ClinVar |
6 | g.33443534G>A | CA450104129 | SYNGAP1,SYNGAP1-AS1 | c.2724G>A (p.Lys908=) c.2982G>A (p.Lys994=) c.2940G>A (p.Lys980=) c.2805G>A (p.Lys935=) c.2937G>A (p.Lys979=) n.329+3072C>T | |
6 | g.33443534G>C | CA363630153 | SYNGAP1,SYNGAP1-AS1 | c.2724G>C (p.Lys908Asn) c.2982G>C (p.Lys994Asn) c.2940G>C (p.Lys980Asn) c.2805G>C (p.Lys935Asn) c.2937G>C (p.Lys979Asn) n.329+3072C>G | |
6 | g.33443534G>T | CA363630156 | SYNGAP1,SYNGAP1-AS1 | c.2724G>T (p.Lys908Asn) c.2982G>T (p.Lys994Asn) c.2940G>T (p.Lys980Asn) c.2805G>T (p.Lys935Asn) c.2937G>T (p.Lys979Asn) n.329+3072C>A | |
6 | g.33443535C>A | CA363630162 | SYNGAP1,SYNGAP1-AS1 | c.2725C>A (p.Pro909Thr) c.2983C>A (p.Pro995Thr) c.2941C>A (p.Pro981Thr) c.2806C>A (p.Pro936Thr) c.2938C>A (p.Pro980Thr) n.329+3071G>T | |
6 | g.33443535C= | CA1620014676 | SYNGAP1,SYNGAP1-AS1 | c.2725C= (p.Pro909=) c.2983C= (p.Pro995=) c.2941C= (p.Pro981=) c.2806C= (p.Pro936=) c.2938C= (p.Pro980=) n.329+3071G= | |
6 | g.33443535C>G | CA363630165 | SYNGAP1,SYNGAP1-AS1 | c.2725C>G (p.Pro909Ala) c.2983C>G (p.Pro995Ala) c.2941C>G (p.Pro981Ala) c.2806C>G (p.Pro936Ala) c.2938C>G (p.Pro980Ala) n.329+3071G>C | |
6 | g.33443535C>T | CA363630171 | SYNGAP1,SYNGAP1-AS1 | c.2725C>T (p.Pro909Ser) c.2983C>T (p.Pro995Ser) c.2941C>T (p.Pro981Ser) c.2806C>T (p.Pro936Ser) c.2938C>T (p.Pro980Ser) n.329+3071G>A | ClinVar dbSNP |
6 | g.33443536C>A | CA363630174 | SYNGAP1,SYNGAP1-AS1 | c.2726C>A (p.Pro909His) c.2984C>A (p.Pro995His) c.2942C>A (p.Pro981His) c.2807C>A (p.Pro936His) c.2939C>A (p.Pro980His) n.329+3070G>T | |
6 | g.33443536C>G | CA363630183 | SYNGAP1,SYNGAP1-AS1 | c.2726C>G (p.Pro909Arg) c.2984C>G (p.Pro995Arg) c.2942C>G (p.Pro981Arg) c.2807C>G (p.Pro936Arg) c.2939C>G (p.Pro980Arg) n.329+3070G>C | |
6 | g.33443536C>T | CA363630178 | SYNGAP1,SYNGAP1-AS1 | c.2726C>T (p.Pro909Leu) c.2984C>T (p.Pro995Leu) c.2942C>T (p.Pro981Leu) c.2807C>T (p.Pro936Leu) c.2939C>T (p.Pro980Leu) n.329+3070G>A | |
6 | g.33443537C>A | CA450104133 | SYNGAP1,SYNGAP1-AS1 | c.2727C>A (p.Pro909=) c.2985C>A (p.Pro995=) c.2943C>A (p.Pro981=) c.2808C>A (p.Pro936=) c.2940C>A (p.Pro980=) n.329+3069G>T | |
6 | g.33443537C>G | CA450104134 | SYNGAP1,SYNGAP1-AS1 | c.2727C>G (p.Pro909=) c.2985C>G (p.Pro995=) c.2943C>G (p.Pro981=) c.2808C>G (p.Pro936=) c.2940C>G (p.Pro980=) n.329+3069G>C | dbSNP |
6 | g.33443537C>T | CA450104135 | SYNGAP1,SYNGAP1-AS1 | c.2727C>T (p.Pro909=) c.2985C>T (p.Pro995=) c.2943C>T (p.Pro981=) c.2808C>T (p.Pro936=) c.2940C>T (p.Pro980=) n.329+3069G>A | |
6 | g.33443538C>A | CA363630187 | SYNGAP1,SYNGAP1-AS1 | c.2728C>A (p.Pro910Thr) c.2986C>A (p.Pro996Thr) c.2944C>A (p.Pro982Thr) c.2809C>A (p.Pro937Thr) c.2941C>A (p.Pro981Thr) n.329+3068G>T | |
6 | g.33443538C= | CA1620014677 | SYNGAP1,SYNGAP1-AS1 | c.2728C= (p.Pro910=) c.2986C= (p.Pro996=) c.2944C= (p.Pro982=) c.2809C= (p.Pro937=) c.2941C= (p.Pro981=) n.329+3068G= | |
6 | g.33443538C>G | CA363630191 | SYNGAP1,SYNGAP1-AS1 | c.2728C>G (p.Pro910Ala) c.2986C>G (p.Pro996Ala) c.2944C>G (p.Pro982Ala) c.2809C>G (p.Pro937Ala) c.2941C>G (p.Pro981Ala) n.329+3068G>C | |
6 | g.33443538C>T | CA363630202 | SYNGAP1,SYNGAP1-AS1 | c.2728C>T (p.Pro910Ser) c.2986C>T (p.Pro996Ser) c.2944C>T (p.Pro982Ser) c.2809C>T (p.Pro937Ser) c.2941C>T (p.Pro981Ser) n.329+3068G>A | dbSNP gnomAD v3 gnomAD v4 |
6 | g.33443539C>A | CA363630208 | SYNGAP1,SYNGAP1-AS1 | c.2729C>A (p.Pro910His) c.2987C>A (p.Pro996His) c.2945C>A (p.Pro982His) c.2810C>A (p.Pro937His) c.2942C>A (p.Pro981His) n.329+3067G>T | |
6 | g.33443539C>G | CA363630211 | SYNGAP1,SYNGAP1-AS1 | c.2729C>G (p.Pro910Arg) c.2987C>G (p.Pro996Arg) c.2945C>G (p.Pro982Arg) c.2810C>G (p.Pro937Arg) c.2942C>G (p.Pro981Arg) n.329+3067G>C | ClinVar |
6 | g.33443539C>T | CA363630212 | SYNGAP1,SYNGAP1-AS1 | c.2729C>T (p.Pro910Leu) c.2987C>T (p.Pro996Leu) c.2945C>T (p.Pro982Leu) c.2810C>T (p.Pro937Leu) c.2942C>T (p.Pro981Leu) n.329+3067G>A | |
6 | g.33443540T>A | CA450104137 | SYNGAP1,SYNGAP1-AS1 | c.2730T>A (p.Pro910=) c.2988T>A (p.Pro996=) c.2946T>A (p.Pro982=) c.2811T>A (p.Pro937=) c.2943T>A (p.Pro981=) n.329+3066A>T | |
6 | g.33443540T>C | CA450104138 | SYNGAP1,SYNGAP1-AS1 | c.2730T>C (p.Pro910=) c.2988T>C (p.Pro996=) c.2946T>C (p.Pro982=) c.2811T>C (p.Pro937=) c.2943T>C (p.Pro981=) n.329+3066A>G | |
6 | g.33443540T>G | CA450104139 | SYNGAP1,SYNGAP1-AS1 | c.2730T>G (p.Pro910=) c.2988T>G (p.Pro996=) c.2946T>G (p.Pro982=) c.2811T>G (p.Pro937=) c.2943T>G (p.Pro981=) n.329+3066A>C | |
6 | g.33443541G>A | CA363630213 | SYNGAP1,SYNGAP1-AS1 | c.2731G>A (p.Ala911Thr) c.2989G>A (p.Ala997Thr) c.2947G>A (p.Ala983Thr) c.2812G>A (p.Ala938Thr) c.2944G>A (p.Ala982Thr) n.329+3065C>T | ClinVar |
6 | g.33443541G>C | CA363630214 | SYNGAP1,SYNGAP1-AS1 | c.2731G>C (p.Ala911Pro) c.2989G>C (p.Ala997Pro) c.2947G>C (p.Ala983Pro) c.2812G>C (p.Ala938Pro) c.2944G>C (p.Ala982Pro) n.329+3065C>G | |
6 | g.33443541G>T | CA363630215 | SYNGAP1,SYNGAP1-AS1 | c.2731G>T (p.Ala911Ser) c.2989G>T (p.Ala997Ser) c.2947G>T (p.Ala983Ser) c.2812G>T (p.Ala938Ser) c.2944G>T (p.Ala982Ser) n.329+3065C>A | |
6 | g.33443542C>A | CA363630218 | SYNGAP1,SYNGAP1-AS1 | c.2732C>A (p.Ala911Asp) c.2990C>A (p.Ala997Asp) c.2948C>A (p.Ala983Asp) c.2813C>A (p.Ala938Asp) c.2945C>A (p.Ala982Asp) n.329+3064G>T | |
6 | g.33443542C>G | CA363630221 | SYNGAP1,SYNGAP1-AS1 | c.2732C>G (p.Ala911Gly) c.2990C>G (p.Ala997Gly) c.2948C>G (p.Ala983Gly) c.2813C>G (p.Ala938Gly) c.2945C>G (p.Ala982Gly) n.329+3064G>C | |
6 | g.33443542C>T | CA363630223 | SYNGAP1,SYNGAP1-AS1 | c.2732C>T (p.Ala911Val) c.2990C>T (p.Ala997Val) c.2948C>T (p.Ala983Val) c.2813C>T (p.Ala938Val) c.2945C>T (p.Ala982Val) n.329+3064G>A | |
6 | g.33443543T>A | CA450104143 | SYNGAP1,SYNGAP1-AS1 | c.2733T>A (p.Ala911=) c.2991T>A (p.Ala997=) c.2949T>A (p.Ala983=) c.2814T>A (p.Ala938=) c.2946T>A (p.Ala982=) n.329+3063A>T | |
6 | g.33443543T>C | CA450104144 | SYNGAP1,SYNGAP1-AS1 | c.2733T>C (p.Ala911=) c.2991T>C (p.Ala997=) c.2949T>C (p.Ala983=) c.2814T>C (p.Ala938=) c.2946T>C (p.Ala982=) n.329+3063A>G | dbSNP |
6 | g.33443543T>G | CA450104145 | SYNGAP1,SYNGAP1-AS1 | c.2733T>G (p.Ala911=) c.2991T>G (p.Ala997=) c.2949T>G (p.Ala983=) c.2814T>G (p.Ala938=) c.2946T>G (p.Ala982=) n.329+3063A>C | |
6 | g.33443543T= | CA1620014678 | SYNGAP1,SYNGAP1-AS1 | c.2733T= (p.Ala911=) c.2991T= (p.Ala997=) c.2949T= (p.Ala983=) c.2814T= (p.Ala938=) c.2946T= (p.Ala982=) n.329+3063A= | |
6 | g.33443544G>A | CA363630231 | SYNGAP1,SYNGAP1-AS1 | c.2734G>A (p.Ala912Thr) c.2992G>A (p.Ala998Thr) c.2950G>A (p.Ala984Thr) c.2815G>A (p.Ala939Thr) c.2947G>A (p.Ala983Thr) n.329+3062C>T | |
6 | g.33443544G>C | CA363630234 | SYNGAP1,SYNGAP1-AS1 | c.2734G>C (p.Ala912Pro) c.2992G>C (p.Ala998Pro) c.2950G>C (p.Ala984Pro) c.2815G>C (p.Ala939Pro) c.2947G>C (p.Ala983Pro) n.329+3062C>G | |
6 | g.33443544G>T | CA363630225 | SYNGAP1,SYNGAP1-AS1 | c.2734G>T (p.Ala912Ser) c.2992G>T (p.Ala998Ser) c.2950G>T (p.Ala984Ser) c.2815G>T (p.Ala939Ser) c.2947G>T (p.Ala983Ser) n.329+3062C>A | |
6 | g.33443545C>A | CA363630241 | SYNGAP1,SYNGAP1-AS1 | c.2735C>A (p.Ala912Asp) c.2993C>A (p.Ala998Asp) c.2951C>A (p.Ala984Asp) c.2816C>A (p.Ala939Asp) c.2948C>A (p.Ala983Asp) n.329+3061G>T | |
6 | g.33443545C>G | CA363630237 | SYNGAP1,SYNGAP1-AS1 | c.2735C>G (p.Ala912Gly) c.2993C>G (p.Ala998Gly) c.2951C>G (p.Ala984Gly) c.2816C>G (p.Ala939Gly) c.2948C>G (p.Ala983Gly) n.329+3061G>C | |
6 | g.33443545C>T | CA363630244 | SYNGAP1,SYNGAP1-AS1 | c.2735C>T (p.Ala912Val) c.2993C>T (p.Ala998Val) c.2951C>T (p.Ala984Val) c.2816C>T (p.Ala939Val) c.2948C>T (p.Ala983Val) n.329+3061G>A | |
6 | g.33443546C>A | CA450104147 | SYNGAP1,SYNGAP1-AS1 | c.2736C>A (p.Ala912=) c.2994C>A (p.Ala998=) c.2952C>A (p.Ala984=) c.2817C>A (p.Ala939=) c.2949C>A (p.Ala983=) n.329+3060G>T | |
6 | g.33443546C= | CA1620014679 | SYNGAP1,SYNGAP1-AS1 | c.2736C= (p.Ala912=) c.2994C= (p.Ala998=) c.2952C= (p.Ala984=) c.2817C= (p.Ala939=) c.2949C= (p.Ala983=) n.329+3060G= | |
6 | g.33443546C>G | CA450104148 | SYNGAP1,SYNGAP1-AS1 | c.2736C>G (p.Ala912=) c.2994C>G (p.Ala998=) c.2952C>G (p.Ala984=) c.2817C>G (p.Ala939=) c.2949C>G (p.Ala983=) n.329+3060G>C | |
6 | g.33443546C>T | CA3758971 | SYNGAP1,SYNGAP1-AS1 | c.2736C>T (p.Ala912=) c.2994C>T (p.Ala998=) c.2952C>T (p.Ala984=) c.2817C>T (p.Ala939=) c.2949C>T (p.Ala983=) n.329+3060G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.33443547T>A | CA363630249 | SYNGAP1,SYNGAP1-AS1 | c.2737T>A (p.Ser913Thr) c.2995T>A (p.Ser999Thr) c.2953T>A (p.Ser985Thr) c.2818T>A (p.Ser940Thr) c.2950T>A (p.Ser984Thr) n.329+3059A>T | |
6 | g.33443547T>C | CA363630250 | SYNGAP1,SYNGAP1-AS1 | c.2737T>C (p.Ser913Pro) c.2995T>C (p.Ser999Pro) c.2953T>C (p.Ser985Pro) c.2818T>C (p.Ser940Pro) c.2950T>C (p.Ser984Pro) n.329+3059A>G | |
6 | g.33443547T>G | CA363630251 | SYNGAP1,SYNGAP1-AS1 | c.2737T>G (p.Ser913Ala) c.2995T>G (p.Ser999Ala) c.2953T>G (p.Ser985Ala) c.2818T>G (p.Ser940Ala) c.2950T>G (p.Ser984Ala) n.329+3059A>C | |
6 | g.33443548C>A | CA363630255 | SYNGAP1,SYNGAP1-AS1 | c.2738C>A (p.Ser913Tyr) c.2996C>A (p.Ser999Tyr) c.2954C>A (p.Ser985Tyr) c.2819C>A (p.Ser940Tyr) c.2951C>A (p.Ser984Tyr) n.329+3058G>T | |
6 | g.33443548C>G | CA363630258 | SYNGAP1,SYNGAP1-AS1 | c.2738C>G (p.Ser913Cys) c.2996C>G (p.Ser999Cys) c.2954C>G (p.Ser985Cys) c.2819C>G (p.Ser940Cys) c.2951C>G (p.Ser984Cys) n.329+3058G>C | |
6 | g.33443548C>T | CA363630260 | SYNGAP1,SYNGAP1-AS1 | c.2738C>T (p.Ser913Phe) c.2996C>T (p.Ser999Phe) c.2954C>T (p.Ser985Phe) c.2819C>T (p.Ser940Phe) c.2951C>T (p.Ser984Phe) n.329+3058G>A | |
6 | g.33443549C>A | CA450104153 | SYNGAP1,SYNGAP1-AS1 | c.2739C>A (p.Ser913=) c.2997C>A (p.Ser999=) c.2955C>A (p.Ser985=) c.2820C>A (p.Ser940=) c.2952C>A (p.Ser984=) n.329+3057G>T | |
6 | g.33443549C>G | CA450104154 | SYNGAP1,SYNGAP1-AS1 | c.2739C>G (p.Ser913=) c.2997C>G (p.Ser999=) c.2955C>G (p.Ser985=) c.2820C>G (p.Ser940=) c.2952C>G (p.Ser984=) n.329+3057G>C | |
6 | g.33443549C>T | CA450104155 | SYNGAP1,SYNGAP1-AS1 | c.2739C>T (p.Ser913=) c.2997C>T (p.Ser999=) c.2955C>T (p.Ser985=) c.2820C>T (p.Ser940=) c.2952C>T (p.Ser984=) n.329+3057G>A | |
6 | g.33443550A= | CA1620014680 | SYNGAP1,SYNGAP1-AS1 | c.2740A= (p.Ile914=) c.2998A= (p.Ile1000=) c.2956A= (p.Ile986=) c.2821A= (p.Ile941=) c.2953A= (p.Ile985=) n.329+3056T= | |
6 | g.33443550A>C | CA363630267 | SYNGAP1,SYNGAP1-AS1 | c.2740A>C (p.Ile914Leu) c.2998A>C (p.Ile1000Leu) c.2956A>C (p.Ile986Leu) c.2821A>C (p.Ile941Leu) c.2953A>C (p.Ile985Leu) n.329+3056T>G | |
6 | g.33443550A>G | CA363630269 | SYNGAP1,SYNGAP1-AS1 | c.2740A>G (p.Ile914Val) c.2998A>G (p.Ile1000Val) c.2956A>G (p.Ile986Val) c.2821A>G (p.Ile941Val) c.2953A>G (p.Ile985Val) n.329+3056T>C | ClinVar dbSNP |
6 | g.33443550A>T | CA363630271 | SYNGAP1,SYNGAP1-AS1 | c.2740A>T (p.Ile914Phe) c.2998A>T (p.Ile1000Phe) c.2956A>T (p.Ile986Phe) c.2821A>T (p.Ile941Phe) c.2953A>T (p.Ile985Phe) n.329+3056T>A | |
6 | g.33443551T>A | CA363630274 | SYNGAP1,SYNGAP1-AS1 | c.2741T>A (p.Ile914Asn) c.2999T>A (p.Ile1000Asn) c.2957T>A (p.Ile986Asn) c.2822T>A (p.Ile941Asn) c.2954T>A (p.Ile985Asn) n.329+3055A>T | |
6 | g.33443551T>C | CA363630280 | SYNGAP1,SYNGAP1-AS1 | c.2741T>C (p.Ile914Thr) c.2999T>C (p.Ile1000Thr) c.2957T>C (p.Ile986Thr) c.2822T>C (p.Ile941Thr) c.2954T>C (p.Ile985Thr) n.329+3055A>G | dbSNP |
6 | g.33443551T>G | CA363630284 | SYNGAP1,SYNGAP1-AS1 | c.2741T>G (p.Ile914Ser) c.2999T>G (p.Ile1000Ser) c.2957T>G (p.Ile986Ser) c.2822T>G (p.Ile941Ser) c.2954T>G (p.Ile985Ser) n.329+3055A>C | |
6 | g.33443551T= | CA1620014681 | SYNGAP1,SYNGAP1-AS1 | c.2741T= (p.Ile914=) c.2999T= (p.Ile1000=) c.2957T= (p.Ile986=) c.2822T= (p.Ile941=) c.2954T= (p.Ile985=) n.329+3055A= | |
6 | g.33443552C>A | CA450104158 | SYNGAP1,SYNGAP1-AS1 | c.2742C>A (p.Ile914=) c.3000C>A (p.Ile1000=) c.2958C>A (p.Ile986=) c.2823C>A (p.Ile941=) c.2955C>A (p.Ile985=) n.329+3054G>T | |
6 | g.33443552C>G | CA363630286 | SYNGAP1,SYNGAP1-AS1 | c.2742C>G (p.Ile914Met) c.3000C>G (p.Ile1000Met) c.2958C>G (p.Ile986Met) c.2823C>G (p.Ile941Met) c.2955C>G (p.Ile985Met) n.329+3054G>C | |
6 | g.33443552C>T | CA450104159 | SYNGAP1,SYNGAP1-AS1 | c.2742C>T (p.Ile914=) c.3000C>T (p.Ile1000=) c.2958C>T (p.Ile986=) c.2823C>T (p.Ile941=) c.2955C>T (p.Ile985=) n.329+3054G>A | |
6 | g.33443553C>A | CA363630287 | SYNGAP1,SYNGAP1-AS1 | c.2743C>A (p.Leu915Ile) c.3001C>A (p.Leu1001Ile) c.2959C>A (p.Leu987Ile) c.2824C>A (p.Leu942Ile) c.2956C>A (p.Leu986Ile) n.329+3053G>T | |
6 | g.33443553C>G | CA363630288 | SYNGAP1,SYNGAP1-AS1 | c.2743C>G (p.Leu915Val) c.3001C>G (p.Leu1001Val) c.2959C>G (p.Leu987Val) c.2824C>G (p.Leu942Val) c.2956C>G (p.Leu986Val) n.329+3053G>C | |
6 | g.33443553C>T | CA363630289 | SYNGAP1,SYNGAP1-AS1 | c.2743C>T (p.Leu915Phe) c.3001C>T (p.Leu1001Phe) c.2959C>T (p.Leu987Phe) c.2824C>T (p.Leu942Phe) c.2956C>T (p.Leu986Phe) n.329+3053G>A | |
6 | g.33443554T>A | CA363630292 | SYNGAP1,SYNGAP1-AS1 | c.2744T>A (p.Leu915His) c.3002T>A (p.Leu1001His) c.2960T>A (p.Leu987His) c.2825T>A (p.Leu942His) c.2957T>A (p.Leu986His) n.329+3052A>T | |
6 | g.33443554T>C | CA3758972 | SYNGAP1,SYNGAP1-AS1 | c.2744T>C (p.Leu915Pro) c.3002T>C (p.Leu1001Pro) c.2960T>C (p.Leu987Pro) c.2825T>C (p.Leu942Pro) c.2957T>C (p.Leu986Pro) n.329+3052A>G | ClinVar dbSNP ExAC gnomAD v2 |
6 | g.33443554T>G | CA363630308 | SYNGAP1,SYNGAP1-AS1 | c.2744T>G (p.Leu915Arg) c.3002T>G (p.Leu1001Arg) c.2960T>G (p.Leu987Arg) c.2825T>G (p.Leu942Arg) c.2957T>G (p.Leu986Arg) n.329+3052A>C | |
6 | g.33443554T= | CA1620014682 | SYNGAP1,SYNGAP1-AS1 | c.2744T= (p.Leu915=) c.3002T= (p.Leu1001=) c.2960T= (p.Leu987=) c.2825T= (p.Leu942=) c.2957T= (p.Leu986=) n.329+3052A= | |
6 | g.33443555T>A | CA450104163 | SYNGAP1,SYNGAP1-AS1 | c.2745T>A (p.Leu915=) c.3003T>A (p.Leu1001=) c.2961T>A (p.Leu987=) c.2826T>A (p.Leu942=) c.2958T>A (p.Leu986=) n.329+3051A>T | |
6 | g.33443555T>C | CA450104162 | SYNGAP1,SYNGAP1-AS1 | c.2745T>C (p.Leu915=) c.3003T>C (p.Leu1001=) c.2961T>C (p.Leu987=) c.2826T>C (p.Leu942=) c.2958T>C (p.Leu986=) n.329+3051A>G | |
6 | g.33443555T>G | CA450104161 | SYNGAP1,SYNGAP1-AS1 | c.2745T>G (p.Leu915=) c.3003T>G (p.Leu1001=) c.2961T>G (p.Leu987=) c.2826T>G (p.Leu942=) c.2958T>G (p.Leu986=) n.329+3051A>C | |
6 | g.33443556C>A | CA363630314 | SYNGAP1,SYNGAP1-AS1 | c.2746C>A (p.His916Asn) c.3004C>A (p.His1002Asn) c.2962C>A (p.His988Asn) c.2827C>A (p.His943Asn) c.2959C>A (p.His987Asn) n.329+3050G>T | |
6 | g.33443556C>G | CA363630315 | SYNGAP1,SYNGAP1-AS1 | c.2746C>G (p.His916Asp) c.3004C>G (p.His1002Asp) c.2962C>G (p.His988Asp) c.2827C>G (p.His943Asp) c.2959C>G (p.His987Asp) n.329+3050G>C | |
6 | g.33443556C>T | CA363630317 | SYNGAP1,SYNGAP1-AS1 | c.2746C>T (p.His916Tyr) c.3004C>T (p.His1002Tyr) c.2962C>T (p.His988Tyr) c.2827C>T (p.His943Tyr) c.2959C>T (p.His987Tyr) n.329+3050G>A | |
6 | g.33443557A>C | CA363630319 | SYNGAP1,SYNGAP1-AS1 | c.2747A>C (p.His916Pro) c.3005A>C (p.His1002Pro) c.2963A>C (p.His988Pro) c.2828A>C (p.His943Pro) c.2960A>C (p.His987Pro) n.329+3049T>G | |
6 | g.33443557A>G | CA363630321 | SYNGAP1,SYNGAP1-AS1 | c.2747A>G (p.His916Arg) c.3005A>G (p.His1002Arg) c.2963A>G (p.His988Arg) c.2828A>G (p.His943Arg) c.2960A>G (p.His987Arg) n.329+3049T>C | gnomAD v4 |
6 | g.33443557A>T | CA363630322 | SYNGAP1,SYNGAP1-AS1 | c.2747A>T (p.His916Leu) c.3005A>T (p.His1002Leu) c.2963A>T (p.His988Leu) c.2828A>T (p.His943Leu) c.2960A>T (p.His987Leu) n.329+3049T>A | |
6 | g.33443558T>A | CA363630325 | SYNGAP1,SYNGAP1-AS1 | c.2748T>A (p.His916Gln) c.3006T>A (p.His1002Gln) c.2964T>A (p.His988Gln) c.2829T>A (p.His943Gln) c.2961T>A (p.His987Gln) n.329+3048A>T | |
6 | g.33443558T>C | CA450104165 | SYNGAP1,SYNGAP1-AS1 | c.2748T>C (p.His916=) c.3006T>C (p.His1002=) c.2964T>C (p.His988=) c.2829T>C (p.His943=) c.2961T>C (p.His987=) n.329+3048A>G | |
6 | g.33443558T>G | CA363630329 | SYNGAP1,SYNGAP1-AS1 | c.2748T>G (p.His916Gln) c.3006T>G (p.His1002Gln) c.2964T>G (p.His988Gln) c.2829T>G (p.His943Gln) c.2961T>G (p.His987Gln) n.329+3048A>C | |
6 | g.33443558_33443559insTTTTTTTTTT | CA2678276466 | SYNGAP1,SYNGAP1-AS1 | c.2748_2749insTTTTTTTTTT (p.Ser917PhefsTer4) c.3006_3007insTTTTTTTTTT (p.Ser1003PhefsTer4) c.2964_2965insTTTTTTTTTT (p.Ser989PhefsTer4) c.2829_2830insTTTTTTTTTT (p.Ser944PhefsTer4) c.2961_2962insTTTTTTTTTT (p.Ser988PhefsTer4) n.329+3048_329+3049insAAAAAAAAAA | gnomAD v4 |
6 | g.33443558_33443559insTTTTTTTTTTAATGATACGGCG | CA2770567200 | SYNGAP1,SYNGAP1-AS1 | c.2748_2749insTTTTTTTTTTAATGATACGGCG (p.Ser917PhefsTer4) c.3006_3007insTTTTTTTTTTAATGATACGGCG (p.Ser1003PhefsTer4) c.2964_2965insTTTTTTTTTTAATGATACGGCG (p.Ser989PhefsTer4) c.2829_2830insTTTTTTTTTTAATGATACGGCG (p.Ser944PhefsTer4) c.2961_2962insTTTTTTTTTTAATGATACGGCG (p.Ser988PhefsTer4) n.329+3047_329+3048insCGCCGTATCATTAAAAAAAAAA | |
6 | g.33443559A= | CA1620014683 | SYNGAP1,SYNGAP1-AS1 | c.2749A= (p.Ser917=) c.3007A= (p.Ser1003=) c.2965A= (p.Ser989=) c.2830A= (p.Ser944=) c.2962A= (p.Ser988=) n.329+3047T= | |
6 | g.33443559A>C | CA363630338 | SYNGAP1,SYNGAP1-AS1 | c.2749A>C (p.Ser917Arg) c.3007A>C (p.Ser1003Arg) c.2965A>C (p.Ser989Arg) c.2830A>C (p.Ser944Arg) c.2962A>C (p.Ser988Arg) n.329+3047T>G | |
6 | g.33443559A>G | CA363630331 | SYNGAP1,SYNGAP1-AS1 | c.2749A>G (p.Ser917Gly) c.3007A>G (p.Ser1003Gly) c.2965A>G (p.Ser989Gly) c.2830A>G (p.Ser944Gly) c.2962A>G (p.Ser988Gly) n.329+3047T>C | dbSNP gnomAD v2 gnomAD v4 |
6 | g.33443559A>T | CA363630334 | SYNGAP1,SYNGAP1-AS1 | c.2749A>T (p.Ser917Cys) c.3007A>T (p.Ser1003Cys) c.2965A>T (p.Ser989Cys) c.2830A>T (p.Ser944Cys) c.2962A>T (p.Ser988Cys) n.329+3047T>A | |
6 | g.33443560del | CA2770567203 | SYNGAP1,SYNGAP1-AS1 | c.2750del (p.Ser917ThrfsTer?) c.3008del (p.Ser1003ThrfsTer?) c.2966del (p.Ser989ThrfsTer?) c.2831del (p.Ser944ThrfsTer?) c.2963del (p.Ser988ThrfsTer?) n.329+3046del | |
6 | g.33443560G>A | CA363630340 | SYNGAP1,SYNGAP1-AS1 | c.2750G>A (p.Ser917Asn) c.3008G>A (p.Ser1003Asn) c.2966G>A (p.Ser989Asn) c.2831G>A (p.Ser944Asn) c.2963G>A (p.Ser988Asn) n.329+3046C>T | |
6 | g.33443560G>C | CA363630341 | SYNGAP1,SYNGAP1-AS1 | c.2750G>C (p.Ser917Thr) c.3008G>C (p.Ser1003Thr) c.2966G>C (p.Ser989Thr) c.2831G>C (p.Ser944Thr) c.2963G>C (p.Ser988Thr) n.329+3046C>G | |
6 | g.33443560G>T | CA363630350 | SYNGAP1,SYNGAP1-AS1 | c.2750G>T (p.Ser917Ile) c.3008G>T (p.Ser1003Ile) c.2966G>T (p.Ser989Ile) c.2831G>T (p.Ser944Ile) c.2963G>T (p.Ser988Ile) n.329+3046C>A | |
6 | g.33443560_33443574del | CA2678276470 | SYNGAP1,SYNGAP1-AS1 | c.2750_2764del (p.Ser917_Asp922delinsAsn) c.3008_3022del (p.Ser1003_Asp1008delinsAsn) c.2966_2980del (p.Ser989_Asp994delinsAsn) c.2831_2845del (p.Ser944_Asp949delinsAsn) c.2963_2977del (p.Ser988_Asp993delinsAsn) n.329+3032_329+3046del | gnomAD v4 |
6 | g.33443561C>A | CA363630356 | SYNGAP1,SYNGAP1-AS1 | c.2751C>A (p.Ser917Arg) c.3009C>A (p.Ser1003Arg) c.2967C>A (p.Ser989Arg) c.2832C>A (p.Ser944Arg) c.2964C>A (p.Ser988Arg) n.329+3045G>T | |
6 | g.33443561C>G | CA363630359 | SYNGAP1,SYNGAP1-AS1 | c.2751C>G (p.Ser917Arg) c.3009C>G (p.Ser1003Arg) c.2967C>G (p.Ser989Arg) c.2832C>G (p.Ser944Arg) c.2964C>G (p.Ser988Arg) n.329+3045G>C | ClinVar dbSNP |
6 | g.33443561C>T | CA450104168 | SYNGAP1,SYNGAP1-AS1 | c.2751C>T (p.Ser917=) c.3009C>T (p.Ser1003=) c.2967C>T (p.Ser989=) c.2832C>T (p.Ser944=) c.2964C>T (p.Ser988=) n.329+3045G>A | |
6 | g.33443562C>A | CA363630363 | SYNGAP1,SYNGAP1-AS1 | c.2752C>A (p.His918Asn) c.3010C>A (p.His1004Asn) c.2968C>A (p.His990Asn) c.2833C>A (p.His945Asn) c.2965C>A (p.His989Asn) n.329+3044G>T | |
6 | g.33443562C>G | CA363630364 | SYNGAP1,SYNGAP1-AS1 | c.2752C>G (p.His918Asp) c.3010C>G (p.His1004Asp) c.2968C>G (p.His990Asp) c.2833C>G (p.His945Asp) c.2965C>G (p.His989Asp) n.329+3044G>C | |
6 | g.33443562C>T | CA363630368 | SYNGAP1,SYNGAP1-AS1 | c.2752C>T (p.His918Tyr) c.3010C>T (p.His1004Tyr) c.2968C>T (p.His990Tyr) c.2833C>T (p.His945Tyr) c.2965C>T (p.His989Tyr) n.329+3044G>A | |
6 | g.33443562_33443563insTTTTTTA | CA2678276471 | SYNGAP1,SYNGAP1-AS1 | c.2752_2753insTTTTTTA (p.His918LeufsTer3) c.3010_3011insTTTTTTA (p.His1004LeufsTer3) c.2968_2969insTTTTTTA (p.His990LeufsTer3) c.2833_2834insTTTTTTA (p.His945LeufsTer3) c.2965_2966insTTTTTTA (p.His989LeufsTer3) n.329+3043_329+3044insTAAAAAA | gnomAD v4 |
6 | g.33443562_33443563insTTTTTTAATGAG | CA2678276475 | SYNGAP1,SYNGAP1-AS1 | c.2752_2753insTTTTTTAATGAG (p.His918LeufsTer3) c.3010_3011insTTTTTTAATGAG (p.His1004LeufsTer3) c.2968_2969insTTTTTTAATGAG (p.His990LeufsTer3) c.2833_2834insTTTTTTAATGAG (p.His945LeufsTer3) c.2965_2966insTTTTTTAATGAG (p.His989LeufsTer3) n.329+3043_329+3044insCTCATTAAAAAA | gnomAD v4 |
6 | g.33443562_33443563insTTTTTTAATGAT | CA2678276474 | SYNGAP1,SYNGAP1-AS1 | c.2752_2753insTTTTTTAATGAT (p.His918LeufsTer3) c.3010_3011insTTTTTTAATGAT (p.His1004LeufsTer3) c.2968_2969insTTTTTTAATGAT (p.His990LeufsTer3) c.2833_2834insTTTTTTAATGAT (p.His945LeufsTer3) c.2965_2966insTTTTTTAATGAT (p.His989LeufsTer3) n.329+3043_329+3044insATCATTAAAAAA | gnomAD v4 |
6 | g.33443563A>C | CA363630374 | SYNGAP1,SYNGAP1-AS1 | c.2753A>C (p.His918Pro) c.3011A>C (p.His1004Pro) c.2969A>C (p.His990Pro) c.2834A>C (p.His945Pro) c.2966A>C (p.His989Pro) n.329+3043T>G | |
6 | g.33443563A>G | CA363630376 | SYNGAP1,SYNGAP1-AS1 | c.2753A>G (p.His918Arg) c.3011A>G (p.His1004Arg) c.2969A>G (p.His990Arg) c.2834A>G (p.His945Arg) c.2966A>G (p.His989Arg) n.329+3043T>C | |
6 | g.33443563A>T | CA363630379 | SYNGAP1,SYNGAP1-AS1 | c.2753A>T (p.His918Leu) c.3011A>T (p.His1004Leu) c.2969A>T (p.His990Leu) c.2834A>T (p.His945Leu) c.2966A>T (p.His989Leu) n.329+3043T>A | |
6 | g.33443563_33443566del | CA2678276472 | SYNGAP1,SYNGAP1-AS1 | c.2753_2756del (p.His918ProfsTer?) c.3011_3014del (p.His1004ProfsTer?) c.2969_2972del (p.His990ProfsTer?) c.2834_2837del (p.His945ProfsTer?) c.2966_2969del (p.His989ProfsTer?) n.329+3040_329+3043del | gnomAD v4 |
6 | g.33443564C>A | CA363630383 | SYNGAP1,SYNGAP1-AS1 | c.2754C>A (p.His918Gln) c.3012C>A (p.His1004Gln) c.2970C>A (p.His990Gln) c.2835C>A (p.His945Gln) c.2967C>A (p.His989Gln) n.329+3042G>T | |
6 | g.33443564C= | CA1620014684 | SYNGAP1,SYNGAP1-AS1 | c.2754C= (p.His918=) c.3012C= (p.His1004=) c.2970C= (p.His990=) c.2835C= (p.His945=) c.2967C= (p.His989=) n.329+3042G= | |
6 | g.33443564C>G | CA363630386 | SYNGAP1,SYNGAP1-AS1 | c.2754C>G (p.His918Gln) c.3012C>G (p.His1004Gln) c.2970C>G (p.His990Gln) c.2835C>G (p.His945Gln) c.2967C>G (p.His989Gln) n.329+3042G>C | dbSNP gnomAD v3 gnomAD v4 |
6 | g.33443564C>T | CA450104169 | SYNGAP1,SYNGAP1-AS1 | c.2754C>T (p.His918=) c.3012C>T (p.His1004=) c.2970C>T (p.His990=) c.2835C>T (p.His945=) c.2967C>T (p.His989=) n.329+3042G>A | dbSNP gnomAD v3 gnomAD v4 |
6 | g.33443564_33443572del | CA2678276479 | SYNGAP1,SYNGAP1-AS1 | c.2754_2762del (p.Ser919_Ser921del) c.3012_3020del (p.Ser1005_Ser1007del) c.2970_2978del (p.Ser991_Ser993del) c.2835_2843del (p.Ser946_Ser948del) c.2967_2975del (p.Ser990_Ser992del) n.329+3034_329+3042del | gnomAD v4 |
6 | g.33443564_33443565insCG | CA2770567206 | SYNGAP1,SYNGAP1-AS1 | c.2754_2755insCG (p.Ser919ArgfsTer?) c.3012_3013insCG (p.Ser1005ArgfsTer?) c.2970_2971insCG (p.Ser991ArgfsTer?) c.2835_2836insCG (p.Ser946ArgfsTer?) c.2967_2968insCG (p.Ser990ArgfsTer?) n.329+3041_329+3042insCG | |
6 | g.33443565A>C | CA363630398 | SYNGAP1,SYNGAP1-AS1 | c.2755A>C (p.Ser919Arg) c.3013A>C (p.Ser1005Arg) c.2971A>C (p.Ser991Arg) c.2836A>C (p.Ser946Arg) c.2968A>C (p.Ser990Arg) n.329+3041T>G | |
6 | g.33443565A>G | CA363630394 | SYNGAP1,SYNGAP1-AS1 | c.2755A>G (p.Ser919Gly) c.3013A>G (p.Ser1005Gly) c.2971A>G (p.Ser991Gly) c.2836A>G (p.Ser946Gly) c.2968A>G (p.Ser990Gly) n.329+3041T>C | gnomAD v4 |
6 | g.33443565A>T | CA363630390 | SYNGAP1,SYNGAP1-AS1 | c.2755A>T (p.Ser919Cys) c.3013A>T (p.Ser1005Cys) c.2971A>T (p.Ser991Cys) c.2836A>T (p.Ser946Cys) c.2968A>T (p.Ser990Cys) n.329+3041T>A | |
6 | g.33443566G>A | CA363630405 | SYNGAP1,SYNGAP1-AS1 | c.2756G>A (p.Ser919Asn) c.3014G>A (p.Ser1005Asn) c.2972G>A (p.Ser991Asn) c.2837G>A (p.Ser946Asn) c.2969G>A (p.Ser990Asn) n.329+3040C>T | dbSNP gnomAD v4 |
6 | g.33443566G>C | CA363630407 | SYNGAP1,SYNGAP1-AS1 | c.2756G>C (p.Ser919Thr) c.3014G>C (p.Ser1005Thr) c.2972G>C (p.Ser991Thr) c.2837G>C (p.Ser946Thr) c.2969G>C (p.Ser990Thr) n.329+3040C>G | |
6 | g.33443566G>T | CA363630409 | SYNGAP1,SYNGAP1-AS1 | c.2756G>T (p.Ser919Ile) c.3014G>T (p.Ser1005Ile) c.2972G>T (p.Ser991Ile) c.2837G>T (p.Ser946Ile) c.2969G>T (p.Ser990Ile) n.329+3040C>A | |
6 | g.33443566_33443567insAT | CA2770567209 | SYNGAP1,SYNGAP1-AS1 | c.2756_2757insAT (p.Ser919ArgfsTer?) c.3014_3015insAT (p.Ser1005ArgfsTer?) c.2972_2973insAT (p.Ser991ArgfsTer?) c.2837_2838insAT (p.Ser946ArgfsTer?) c.2969_2970insAT (p.Ser990ArgfsTer?) n.329+3039_329+3040insAT | |
6 | g.33443567C>A | CA363630413 | SYNGAP1,SYNGAP1-AS1 | c.2757C>A (p.Ser919Arg) c.3015C>A (p.Ser1005Arg) c.2973C>A (p.Ser991Arg) c.2838C>A (p.Ser946Arg) c.2970C>A (p.Ser990Arg) n.329+3039G>T | |
6 | g.33443567C>G | CA363630417 | SYNGAP1,SYNGAP1-AS1 | c.2757C>G (p.Ser919Arg) c.3015C>G (p.Ser1005Arg) c.2973C>G (p.Ser991Arg) c.2838C>G (p.Ser946Arg) c.2970C>G (p.Ser990Arg) n.329+3039G>C | gnomAD v4 |
6 | g.33443567C>T | CA450104171 | SYNGAP1,SYNGAP1-AS1 | c.2757C>T (p.Ser919=) c.3015C>T (p.Ser1005=) c.2973C>T (p.Ser991=) c.2838C>T (p.Ser946=) c.2970C>T (p.Ser990=) n.329+3039G>A | |
6 | g.33443568T>A | CA363630418 | SYNGAP1,SYNGAP1-AS1 | c.2758T>A (p.Tyr920Asn) c.3016T>A (p.Tyr1006Asn) c.2974T>A (p.Tyr992Asn) c.2839T>A (p.Tyr947Asn) c.2971T>A (p.Tyr991Asn) n.329+3038A>T | |
6 | g.33443568T>C | CA363630419 | SYNGAP1,SYNGAP1-AS1 | c.2758T>C (p.Tyr920His) c.3016T>C (p.Tyr1006His) c.2974T>C (p.Tyr992His) c.2839T>C (p.Tyr947His) c.2971T>C (p.Tyr991His) n.329+3038A>G | |
6 | g.33443568T>G | CA363630420 | SYNGAP1,SYNGAP1-AS1 | c.2758T>G (p.Tyr920Asp) c.3016T>G (p.Tyr1006Asp) c.2974T>G (p.Tyr992Asp) c.2839T>G (p.Tyr947Asp) c.2971T>G (p.Tyr991Asp) n.329+3038A>C | gnomAD v4 |
6 | g.33443569A>C | CA363630423 | SYNGAP1,SYNGAP1-AS1 | c.2759A>C (p.Tyr920Ser) c.3017A>C (p.Tyr1006Ser) c.2975A>C (p.Tyr992Ser) c.2840A>C (p.Tyr947Ser) c.2972A>C (p.Tyr991Ser) n.329+3037T>G | |
6 | g.33443569A>G | CA363630425 | SYNGAP1,SYNGAP1-AS1 | c.2759A>G (p.Tyr920Cys) c.3017A>G (p.Tyr1006Cys) c.2975A>G (p.Tyr992Cys) c.2840A>G (p.Tyr947Cys) c.2972A>G (p.Tyr991Cys) n.329+3037T>C | |
6 | g.33443569A>T | CA363630428 | SYNGAP1,SYNGAP1-AS1 | c.2759A>T (p.Tyr920Phe) c.3017A>T (p.Tyr1006Phe) c.2975A>T (p.Tyr992Phe) c.2840A>T (p.Tyr947Phe) c.2972A>T (p.Tyr991Phe) n.329+3037T>A | |
6 | g.33443570C>A | CA363630433 | SYNGAP1,SYNGAP1-AS1 | c.2760C>A (p.Tyr920Ter) c.3018C>A (p.Tyr1006Ter) c.2976C>A (p.Tyr992Ter) c.2841C>A (p.Tyr947Ter) c.2973C>A (p.Tyr991Ter) n.329+3036G>T | |
6 | g.33443570C= | CA1620014685 | SYNGAP1,SYNGAP1-AS1 | c.2760C= (p.Tyr920=) c.3018C= (p.Tyr1006=) c.2976C= (p.Tyr992=) c.2841C= (p.Tyr947=) c.2973C= (p.Tyr991=) n.329+3036G= | |
6 | g.33443570C>G | CA363630438 | SYNGAP1,SYNGAP1-AS1 | c.2760C>G (p.Tyr920Ter) c.3018C>G (p.Tyr1006Ter) c.2976C>G (p.Tyr992Ter) c.2841C>G (p.Tyr947Ter) c.2973C>G (p.Tyr991Ter) n.329+3036G>C | |
6 | g.33443570C>T | CA450104173 | SYNGAP1,SYNGAP1-AS1 | c.2760C>T (p.Tyr920=) c.3018C>T (p.Tyr1006=) c.2976C>T (p.Tyr992=) c.2841C>T (p.Tyr947=) c.2973C>T (p.Tyr991=) n.329+3036G>A | dbSNP gnomAD v2 gnomAD v4 |
6 | g.33443570dup | CA2678276490 | SYNGAP1,SYNGAP1-AS1 | c.2760dup (p.Ser921GlnfsTer2) c.3018dup (p.Ser1007GlnfsTer2) c.2976dup (p.Ser993GlnfsTer2) c.2841dup (p.Ser948GlnfsTer2) c.2973dup (p.Ser992GlnfsTer2) n.329+3036dup | gnomAD v4 |
6 | g.33443570_33443574del | CA2678276492 | SYNGAP1,SYNGAP1-AS1 | c.2760_2764del (p.Tyr920Ter) c.3018_3022del (p.Tyr1006Ter) c.2976_2980del (p.Tyr992Ter) c.2841_2845del (p.Tyr947Ter) c.2973_2977del (p.Tyr991Ter) n.329+3032_329+3036del | gnomAD v4 |
6 | g.33443571A>C | CA363630444 | SYNGAP1,SYNGAP1-AS1 | c.2761A>C (p.Ser921Arg) c.3019A>C (p.Ser1007Arg) c.2977A>C (p.Ser993Arg) c.2842A>C (p.Ser948Arg) c.2974A>C (p.Ser992Arg) n.329+3035T>G | |
6 | g.33443571A>G | CA363630451 | SYNGAP1,SYNGAP1-AS1 | c.2761A>G (p.Ser921Gly) c.3019A>G (p.Ser1007Gly) c.2977A>G (p.Ser993Gly) c.2842A>G (p.Ser948Gly) c.2974A>G (p.Ser992Gly) n.329+3035T>C | |
6 | g.33443571A>T | CA363630440 | SYNGAP1,SYNGAP1-AS1 | c.2761A>T (p.Ser921Cys) c.3019A>T (p.Ser1007Cys) c.2977A>T (p.Ser993Cys) c.2842A>T (p.Ser948Cys) c.2974A>T (p.Ser992Cys) n.329+3035T>A | |
6 | g.33443572G>A | CA363630458 | SYNGAP1,SYNGAP1-AS1 | c.2762G>A (p.Ser921Asn) c.3020G>A (p.Ser1007Asn) c.2978G>A (p.Ser993Asn) c.2843G>A (p.Ser948Asn) c.2975G>A (p.Ser992Asn) n.329+3034C>T | ClinVar |
6 | g.33443572G>C | CA363630467 | SYNGAP1,SYNGAP1-AS1 | c.2762G>C (p.Ser921Thr) c.3020G>C (p.Ser1007Thr) c.2978G>C (p.Ser993Thr) c.2843G>C (p.Ser948Thr) c.2975G>C (p.Ser992Thr) n.329+3034C>G | gnomAD v4 |
6 | g.33443572G>T | CA363630485 | SYNGAP1,SYNGAP1-AS1 | c.2762G>T (p.Ser921Ile) c.3020G>T (p.Ser1007Ile) c.2978G>T (p.Ser993Ile) c.2843G>T (p.Ser948Ile) c.2975G>T (p.Ser992Ile) n.329+3034C>A | |
6 | g.33443573_33443574del | CA2770567214 | SYNGAP1,SYNGAP1-AS1 | c.2763_2764del (p.Ser921ArgfsTer2) c.3021_3022del (p.Ser1007ArgfsTer2) c.2979_2980del (p.Ser993ArgfsTer2) c.2844_2845del (p.Ser948ArgfsTer2) c.2976_2977del (p.Ser992ArgfsTer2) n.329+3033_329+3034del | |
6 | g.33443573T>A | CA363630486 | SYNGAP1,SYNGAP1-AS1 | c.2763T>A (p.Ser921Arg) c.3021T>A (p.Ser1007Arg) c.2979T>A (p.Ser993Arg) c.2844T>A (p.Ser948Arg) c.2976T>A (p.Ser992Arg) n.329+3033A>T | |
6 | g.33443573T>C | CA450104175 | SYNGAP1,SYNGAP1-AS1 | c.2763T>C (p.Ser921=) c.3021T>C (p.Ser1007=) c.2979T>C (p.Ser993=) c.2844T>C (p.Ser948=) c.2976T>C (p.Ser992=) n.329+3033A>G | gnomAD v4 |
6 | g.33443573T>G | CA363630487 | SYNGAP1,SYNGAP1-AS1 | c.2763T>G (p.Ser921Arg) c.3021T>G (p.Ser1007Arg) c.2979T>G (p.Ser993Arg) c.2844T>G (p.Ser948Arg) c.2976T>G (p.Ser992Arg) n.329+3033A>C | |
6 | g.33443574G>A | CA363630490 | SYNGAP1,SYNGAP1-AS1 | c.2764G>A (p.Asp922Asn) c.3022G>A (p.Asp1008Asn) c.2980G>A (p.Asp994Asn) c.2845G>A (p.Asp949Asn) c.2977G>A (p.Asp993Asn) n.329+3032C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.33443574G>C | CA363630491 | SYNGAP1,SYNGAP1-AS1 | c.2764G>C (p.Asp922His) c.3022G>C (p.Asp1008His) c.2980G>C (p.Asp994His) c.2845G>C (p.Asp949His) c.2977G>C (p.Asp993His) n.329+3032C>G | gnomAD v4 |
6 | g.33443574G= | CA1620014686 | SYNGAP1,SYNGAP1-AS1 | c.2764G= (p.Asp922=) c.3022G= (p.Asp1008=) c.2980G= (p.Asp994=) c.2845G= (p.Asp949=) c.2977G= (p.Asp993=) n.329+3032C= | |
6 | g.33443574G>T | CA363630498 | SYNGAP1,SYNGAP1-AS1 | c.2764G>T (p.Asp922Tyr) c.3022G>T (p.Asp1008Tyr) c.2980G>T (p.Asp994Tyr) c.2845G>T (p.Asp949Tyr) c.2977G>T (p.Asp993Tyr) n.329+3032C>A | |
6 | g.33443575A= | CA1620014687 | SYNGAP1,SYNGAP1-AS1 | c.2765A= (p.Asp922=) c.3023A= (p.Asp1008=) c.2981A= (p.Asp994=) c.2846A= (p.Asp949=) c.2978A= (p.Asp993=) n.329+3031T= | |
6 | g.33443575A>C | CA363630501 | SYNGAP1,SYNGAP1-AS1 | c.2765A>C (p.Asp922Ala) c.3023A>C (p.Asp1008Ala) c.2981A>C (p.Asp994Ala) c.2846A>C (p.Asp949Ala) c.2978A>C (p.Asp993Ala) n.329+3031T>G | |
6 | g.33443575A>G | CA363630509 | SYNGAP1,SYNGAP1-AS1 | c.2765A>G (p.Asp922Gly) c.3023A>G (p.Asp1008Gly) c.2981A>G (p.Asp994Gly) c.2846A>G (p.Asp949Gly) c.2978A>G (p.Asp993Gly) n.329+3031T>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
6 | g.33443575A>T | CA363630510 | SYNGAP1,SYNGAP1-AS1 | c.2765A>T (p.Asp922Val) c.3023A>T (p.Asp1008Val) c.2981A>T (p.Asp994Val) c.2846A>T (p.Asp949Val) c.2978A>T (p.Asp993Val) n.329+3031T>A | |
6 | g.33443576del | CA2678276507 | SYNGAP1,SYNGAP1-AS1 | c.2766del (p.Asp922GlufsTer?) c.3024del (p.Asp1008GlufsTer?) c.2982del (p.Asp994GlufsTer?) c.2847del (p.Asp949GlufsTer?) c.2979del (p.Asp993GlufsTer?) n.329+3030del | gnomAD v4 |
6 | g.33443576T>A | CA363630514 | SYNGAP1,SYNGAP1-AS1 | c.2766T>A (p.Asp922Glu) c.3024T>A (p.Asp1008Glu) c.2982T>A (p.Asp994Glu) c.2847T>A (p.Asp949Glu) c.2979T>A (p.Asp993Glu) n.329+3030A>T | gnomAD v4 |
6 | g.33443576T>C | CA450104177 | SYNGAP1,SYNGAP1-AS1 | c.2766T>C (p.Asp922=) c.3024T>C (p.Asp1008=) c.2982T>C (p.Asp994=) c.2847T>C (p.Asp949=) c.2979T>C (p.Asp993=) n.329+3030A>G | gnomAD v4 |
6 | g.33443576T>G | CA363630516 | SYNGAP1,SYNGAP1-AS1 | c.2766T>G (p.Asp922Glu) c.3024T>G (p.Asp1008Glu) c.2982T>G (p.Asp994Glu) c.2847T>G (p.Asp949Glu) c.2979T>G (p.Asp993Glu) n.329+3030A>C | gnomAD v4 |
6 | g.33443577G>A | CA363630522 | SYNGAP1,SYNGAP1-AS1 | c.2767G>A (p.Glu923Lys) c.3025G>A (p.Glu1009Lys) c.2983G>A (p.Glu995Lys) c.2848G>A (p.Glu950Lys) c.2980G>A (p.Glu994Lys) n.329+3029C>T | |
6 | g.33443577G>C | CA363630519 | SYNGAP1,SYNGAP1-AS1 | c.2767G>C (p.Glu923Gln) c.3025G>C (p.Glu1009Gln) c.2983G>C (p.Glu995Gln) c.2848G>C (p.Glu950Gln) c.2980G>C (p.Glu994Gln) n.329+3029C>G | gnomAD v4 |
6 | g.33443577G= | CA1620014688 | SYNGAP1,SYNGAP1-AS1 | c.2767G= (p.Glu923=) c.3025G= (p.Glu1009=) c.2983G= (p.Glu995=) c.2848G= (p.Glu950=) c.2980G= (p.Glu994=) n.329+3029C= | |
6 | g.33443577G>T | CA363630517 | SYNGAP1,SYNGAP1-AS1 | c.2767G>T (p.Glu923Ter) c.3025G>T (p.Glu1009Ter) c.2983G>T (p.Glu995Ter) c.2848G>T (p.Glu950Ter) c.2980G>T (p.Glu994Ter) n.329+3029C>A | ClinVar dbSNP |
6 | g.33443577_33443584del | CA2678276512 | SYNGAP1,SYNGAP1-AS1 | c.2767_2774del (p.Glu923ThrfsTer5) c.3025_3032del (p.Glu1009ThrfsTer5) c.2983_2990del (p.Glu995ThrfsTer5) c.2848_2855del (p.Glu950ThrfsTer5) c.2980_2987del (p.Glu994ThrfsTer5) n.329+3022_329+3029del | gnomAD v4 |
6 | g.33443578A>C | CA363630525 | SYNGAP1,SYNGAP1-AS1 | c.2768A>C (p.Glu923Ala) c.3026A>C (p.Glu1009Ala) c.2984A>C (p.Glu995Ala) c.2849A>C (p.Glu950Ala) c.2981A>C (p.Glu994Ala) n.329+3028T>G | ClinVar |
6 | g.33443578A>G | CA363630543 | SYNGAP1,SYNGAP1-AS1 | c.2768A>G (p.Glu923Gly) c.3026A>G (p.Glu1009Gly) c.2984A>G (p.Glu995Gly) c.2849A>G (p.Glu950Gly) c.2981A>G (p.Glu994Gly) n.329+3028T>C | |
6 | g.33443578A>T | CA363630545 | SYNGAP1,SYNGAP1-AS1 | c.2768A>T (p.Glu923Val) c.3026A>T (p.Glu1009Val) c.2984A>T (p.Glu995Val) c.2849A>T (p.Glu950Val) c.2981A>T (p.Glu994Val) n.329+3028T>A | |
6 | g.33443579del | CA2678276522 | SYNGAP1,SYNGAP1-AS1 | c.2769del (p.Glu923AspfsTer?) c.3027del (p.Glu1009AspfsTer?) c.2985del (p.Glu995AspfsTer?) c.2850del (p.Glu950AspfsTer?) c.2982del (p.Glu994AspfsTer?) n.329+3027del | gnomAD v4 |
6 | g.33443579G>A | CA450104179 | SYNGAP1,SYNGAP1-AS1 | c.2769G>A (p.Glu923=) c.3027G>A (p.Glu1009=) c.2985G>A (p.Glu995=) c.2850G>A (p.Glu950=) c.2982G>A (p.Glu994=) n.329+3027C>T | dbSNP gnomAD v3 |
6 | g.33443579G>C | CA363630548 | SYNGAP1,SYNGAP1-AS1 | c.2769G>C (p.Glu923Asp) c.3027G>C (p.Glu1009Asp) c.2985G>C (p.Glu995Asp) c.2850G>C (p.Glu950Asp) c.2982G>C (p.Glu994Asp) n.329+3027C>G | dbSNP gnomAD v4 |
6 | g.33443579G= | CA1620014689 | SYNGAP1,SYNGAP1-AS1 | c.2769G= (p.Glu923=) c.3027G= (p.Glu1009=) c.2985G= (p.Glu995=) c.2850G= (p.Glu950=) c.2982G= (p.Glu994=) n.329+3027C= | |
6 | g.33443579G>T | CA363630551 | SYNGAP1,SYNGAP1-AS1 | c.2769G>T (p.Glu923Asp) c.3027G>T (p.Glu1009Asp) c.2985G>T (p.Glu995Asp) c.2850G>T (p.Glu950Asp) c.2982G>T (p.Glu994Asp) n.329+3027C>A | |
6 | g.33443579_33443581del | CA2678276523 | SYNGAP1,SYNGAP1-AS1 | c.2769_2771del (p.Glu923_Phe924delinsAsp) c.3027_3029del (p.Glu1009_Phe1010delinsAsp) c.2985_2987del (p.Glu995_Phe996delinsAsp) c.2850_2852del (p.Glu950_Phe951delinsAsp) c.2982_2984del (p.Glu994_Phe995delinsAsp) n.329+3025_329+3027del | gnomAD v4 |
6 | g.33443579_33443588del | CA2678276525 | SYNGAP1,SYNGAP1-AS1 | c.2769_2778del (p.Glu923AspfsTer?) c.3027_3036del (p.Glu1009AspfsTer?) c.2985_2994del (p.Glu995AspfsTer?) c.2850_2859del (p.Glu950AspfsTer?) c.2982_2991del (p.Glu994AspfsTer?) n.329+3018_329+3027del | gnomAD v4 |
6 | g.33443580T>A | CA363630557 | SYNGAP1,SYNGAP1-AS1 | c.2770T>A (p.Phe924Ile) c.3028T>A (p.Phe1010Ile) c.2986T>A (p.Phe996Ile) c.2851T>A (p.Phe951Ile) c.2983T>A (p.Phe995Ile) n.329+3026A>T | |
6 | g.33443580T>C | CA363630561 | SYNGAP1,SYNGAP1-AS1 | c.2770T>C (p.Phe924Leu) c.3028T>C (p.Phe1010Leu) c.2986T>C (p.Phe996Leu) c.2851T>C (p.Phe951Leu) c.2983T>C (p.Phe995Leu) n.329+3026A>G | |
6 | g.33443580T>G | CA363630562 | SYNGAP1,SYNGAP1-AS1 | c.2770T>G (p.Phe924Val) c.3028T>G (p.Phe1010Val) c.2986T>G (p.Phe996Val) c.2851T>G (p.Phe951Val) c.2983T>G (p.Phe995Val) n.329+3026A>C | |
6 | g.33443581T>A | CA363630566 | SYNGAP1,SYNGAP1-AS1 | c.2771T>A (p.Phe924Tyr) c.3029T>A (p.Phe1010Tyr) c.2987T>A (p.Phe996Tyr) c.2852T>A (p.Phe951Tyr) c.2984T>A (p.Phe995Tyr) n.329+3025A>T | |
6 | g.33443581T>C | CA363630570 | SYNGAP1,SYNGAP1-AS1 | c.2771T>C (p.Phe924Ser) c.3029T>C (p.Phe1010Ser) c.2987T>C (p.Phe996Ser) c.2852T>C (p.Phe951Ser) c.2984T>C (p.Phe995Ser) n.329+3025A>G | gnomAD v4 |
6 | g.33443581T>G | CA363630573 | SYNGAP1,SYNGAP1-AS1 | c.2771T>G (p.Phe924Cys) c.3029T>G (p.Phe1010Cys) c.2987T>G (p.Phe996Cys) c.2852T>G (p.Phe951Cys) c.2984T>G (p.Phe995Cys) n.329+3025A>C | |
6 | g.33443581_33443582insA | CA2770567221 | SYNGAP1,SYNGAP1-AS1 | c.2771_2772insA (p.Phe924LeufsTer7) c.3029_3030insA (p.Phe1010LeufsTer7) c.2987_2988insA (p.Phe996LeufsTer7) c.2852_2853insA (p.Phe951LeufsTer7) c.2984_2985insA (p.Phe995LeufsTer7) n.329+3024_329+3025insT | |
6 | g.33443582T>A | CA363630578 | SYNGAP1,SYNGAP1-AS1 | c.2772T>A (p.Phe924Leu) c.3030T>A (p.Phe1010Leu) c.2988T>A (p.Phe996Leu) c.2853T>A (p.Phe951Leu) c.2985T>A (p.Phe995Leu) n.329+3024A>T | |
6 | g.33443582T>C | CA3758973 | SYNGAP1,SYNGAP1-AS1 | c.2772T>C (p.Phe924=) c.3030T>C (p.Phe1010=) c.2988T>C (p.Phe996=) c.2853T>C (p.Phe951=) c.2985T>C (p.Phe995=) n.329+3024A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.33443582T>G | CA363630589 | SYNGAP1,SYNGAP1-AS1 | c.2772T>G (p.Phe924Leu) c.3030T>G (p.Phe1010Leu) c.2988T>G (p.Phe996Leu) c.2853T>G (p.Phe951Leu) c.2985T>G (p.Phe995Leu) n.329+3024A>C | |
6 | g.33443582T= | CA1620014690 | SYNGAP1,SYNGAP1-AS1 | c.2772T= (p.Phe924=) c.3030T= (p.Phe1010=) c.2988T= (p.Phe996=) c.2853T= (p.Phe951=) c.2985T= (p.Phe995=) n.329+3024A= | |
6 | g.33443582_33443583insAC | CA2678276544 | SYNGAP1,SYNGAP1-AS1 | c.2772_2773insAC (p.Gly925ThrfsTer?) c.3030_3031insAC (p.Gly1011ThrfsTer?) c.2988_2989insAC (p.Gly997ThrfsTer?) c.2853_2854insAC (p.Gly952ThrfsTer?) c.2985_2986insAC (p.Gly996ThrfsTer?) n.329+3023_329+3024insGT | gnomAD v4 |
6 | g.33443583G>A | CA363630597 | SYNGAP1,SYNGAP1-AS1 | c.2773G>A (p.Gly925Arg) c.3031G>A (p.Gly1011Arg) c.2989G>A (p.Gly997Arg) c.2854G>A (p.Gly952Arg) c.2986G>A (p.Gly996Arg) n.329+3023C>T | gnomAD v4 |
6 | g.33443583G>C | CA363630600 | SYNGAP1,SYNGAP1-AS1 | c.2773G>C (p.Gly925Arg) c.3031G>C (p.Gly1011Arg) c.2989G>C (p.Gly997Arg) c.2854G>C (p.Gly952Arg) c.2986G>C (p.Gly996Arg) n.329+3023C>G | |
6 | g.33443583G= | CA1620014691 | SYNGAP1,SYNGAP1-AS1 | c.2773G= (p.Gly925=) c.3031G= (p.Gly1011=) c.2989G= (p.Gly997=) c.2854G= (p.Gly952=) c.2986G= (p.Gly996=) n.329+3023C= | |
6 | g.33443583G>T | CA363630596 | SYNGAP1,SYNGAP1-AS1 | c.2773G>T (p.Gly925Ter) c.3031G>T (p.Gly1011Ter) c.2989G>T (p.Gly997Ter) c.2854G>T (p.Gly952Ter) c.2986G>T (p.Gly996Ter) n.329+3023C>A | dbSNP |
6 | g.33443583_33443584del | CA2678276542 | SYNGAP1,SYNGAP1-AS1 | c.2773_2774del (p.Gly925ThrfsTer5) c.3031_3032del (p.Gly1011ThrfsTer5) c.2989_2990del (p.Gly997ThrfsTer5) c.2854_2855del (p.Gly952ThrfsTer5) c.2986_2987del (p.Gly996ThrfsTer5) n.329+3022_329+3023del | gnomAD v4 |
6 | g.33443583_33443606del | CA2770567222 | SYNGAP1,SYNGAP1-AS1 | c.2773_2796del (p.Gly925_Thr932del) c.3031_3054del (p.Gly1011_Thr1018del) c.2989_3012del (p.Gly997_Thr1004del) c.2854_2877del (p.Gly952_Thr959del) c.2986_3009del (p.Gly996_Thr1003del) n.329+3000_329+3023del | |
6 | g.33443584G>A | CA363630604 | SYNGAP1,SYNGAP1-AS1 | c.2774G>A (p.Gly925Glu) c.3032G>A (p.Gly1011Glu) c.2990G>A (p.Gly997Glu) c.2855G>A (p.Gly952Glu) c.2987G>A (p.Gly996Glu) n.329+3022C>T | |
6 | g.33443584G>C | CA363630608 | SYNGAP1,SYNGAP1-AS1 | c.2774G>C (p.Gly925Ala) c.3032G>C (p.Gly1011Ala) c.2990G>C (p.Gly997Ala) c.2855G>C (p.Gly952Ala) c.2987G>C (p.Gly996Ala) n.329+3022C>G | gnomAD v4 |
6 | g.33443584G>T | CA363630609 | SYNGAP1,SYNGAP1-AS1 | c.2774G>T (p.Gly925Val) c.3032G>T (p.Gly1011Val) c.2990G>T (p.Gly997Val) c.2855G>T (p.Gly952Val) c.2987G>T (p.Gly996Val) n.329+3022C>A | |
6 | g.33443584_33443585insCG | CA2678276545 | SYNGAP1,SYNGAP1-AS1 | c.2774_2775insCG (p.Pro926AspfsTer?) c.3032_3033insCG (p.Pro1012AspfsTer?) c.2990_2991insCG (p.Pro998AspfsTer?) c.2855_2856insCG (p.Pro953AspfsTer?) c.2987_2988insCG (p.Pro997AspfsTer?) n.329+3022_329+3023insGC | gnomAD v4 |
6 | g.33443585A>C | CA450104186 | SYNGAP1,SYNGAP1-AS1 | c.2775A>C (p.Gly925=) c.3033A>C (p.Gly1011=) c.2991A>C (p.Gly997=) c.2856A>C (p.Gly952=) c.2988A>C (p.Gly996=) n.329+3021T>G | |
6 | g.33443585A>G | CA450104187 | SYNGAP1,SYNGAP1-AS1 | c.2775A>G (p.Gly925=) c.3033A>G (p.Gly1011=) c.2991A>G (p.Gly997=) c.2856A>G (p.Gly952=) c.2988A>G (p.Gly996=) n.329+3021T>C | |
6 | g.33443585A>T | CA450104188 | SYNGAP1,SYNGAP1-AS1 | c.2775A>T (p.Gly925=) c.3033A>T (p.Gly1011=) c.2991A>T (p.Gly997=) c.2856A>T (p.Gly952=) c.2988A>T (p.Gly996=) n.329+3021T>A | |
6 | g.33443585_33443586delinsAC | CA1620014692 | SYNGAP1,SYNGAP1-AS1 | c.2775_2776delinsAC (p.Gly925=) c.3033_3034delinsAC (p.Gly1011=) c.2991_2992delinsAC (p.Gly997=) c.2856_2857delinsAC (p.Gly952=) c.2988_2989delinsAC (p.Gly996=) n.329+3020_329+3021delinsGT | |
6 | g.33443586C>A | CA363630610 | SYNGAP1,SYNGAP1-AS1 | c.2776C>A (p.Pro926Thr) c.3034C>A (p.Pro1012Thr) c.2992C>A (p.Pro998Thr) c.2857C>A (p.Pro953Thr) c.2989C>A (p.Pro997Thr) n.329+3020G>T | |
6 | g.33443586C>G | CA363630611 | SYNGAP1,SYNGAP1-AS1 | c.2776C>G (p.Pro926Ala) c.3034C>G (p.Pro1012Ala) c.2992C>G (p.Pro998Ala) c.2857C>G (p.Pro953Ala) c.2989C>G (p.Pro997Ala) n.329+3020G>C | |
6 | g.33443586C>T | CA363630612 | SYNGAP1,SYNGAP1-AS1 | c.2776C>T (p.Pro926Ser) c.3034C>T (p.Pro1012Ser) c.2992C>T (p.Pro998Ser) c.2857C>T (p.Pro953Ser) c.2989C>T (p.Pro997Ser) n.329+3020G>A | gnomAD v4 |
6 | g.33443588del | CA658796746 | SYNGAP1,SYNGAP1-AS1 | c.2778del (p.Ser927LeufsTer?) c.3036del (p.Ser1013LeufsTer?) c.2994del (p.Ser999LeufsTer?) c.2859del (p.Ser954LeufsTer?) c.2991del (p.Ser998LeufsTer?) n.329+3020del | ClinVar dbSNP |
6 | g.33443587C>A | CA363630613 | SYNGAP1,SYNGAP1-AS1 | c.2777C>A (p.Pro926His) c.3035C>A (p.Pro1012His) c.2993C>A (p.Pro998His) c.2858C>A (p.Pro953His) c.2990C>A (p.Pro997His) n.329+3019G>T | |
6 | g.33443587C>G | CA363630617 | SYNGAP1,SYNGAP1-AS1 | c.2777C>G (p.Pro926Arg) c.3035C>G (p.Pro1012Arg) c.2993C>G (p.Pro998Arg) c.2858C>G (p.Pro953Arg) c.2990C>G (p.Pro997Arg) n.329+3019G>C | |
6 | g.33443587C>T | CA363630621 | SYNGAP1,SYNGAP1-AS1 | c.2777C>T (p.Pro926Leu) c.3035C>T (p.Pro1012Leu) c.2993C>T (p.Pro998Leu) c.2858C>T (p.Pro953Leu) c.2990C>T (p.Pro997Leu) n.329+3019G>A | |
6 | g.33443587_33443591del | CA2678276552 | SYNGAP1,SYNGAP1-AS1 | c.2777_2781del (p.Pro926ArgfsTer3) c.3035_3039del (p.Pro1012ArgfsTer3) c.2993_2997del (p.Pro998ArgfsTer3) c.2858_2862del (p.Pro953ArgfsTer3) c.2990_2994del (p.Pro997ArgfsTer3) n.329+3015_329+3019del | gnomAD v4 |
6 | g.33443587_33443588insA | CA2678276553 | SYNGAP1,SYNGAP1-AS1 | c.2777_2778insA (p.Ser927LeufsTer4) c.3035_3036insA (p.Ser1013LeufsTer4) c.2993_2994insA (p.Ser999LeufsTer4) c.2858_2859insA (p.Ser954LeufsTer4) c.2990_2991insA (p.Ser998LeufsTer4) n.329+3018_329+3019insT | gnomAD v4 |
6 | g.33443587_33443588insAG | CA2770567223 | SYNGAP1,SYNGAP1-AS1 | c.2777_2778insAG (p.Ser927AlafsTer?) c.3035_3036insAG (p.Ser1013AlafsTer?) c.2993_2994insAG (p.Ser999AlafsTer?) c.2858_2859insAG (p.Ser954AlafsTer?) c.2990_2991insAG (p.Ser998AlafsTer?) n.329+3018_329+3019insCT | |
6 | g.33443588C>A | CA450104191 | SYNGAP1,SYNGAP1-AS1 | c.2778C>A (p.Pro926=) c.3036C>A (p.Pro1012=) c.2994C>A (p.Pro998=) c.2859C>A (p.Pro953=) c.2991C>A (p.Pro997=) n.329+3018G>T | |
6 | g.33443588C= | CA1620014693 | SYNGAP1,SYNGAP1-AS1 | c.2778C= (p.Pro926=) c.3036C= (p.Pro1012=) c.2994C= (p.Pro998=) c.2859C= (p.Pro953=) c.2991C= (p.Pro997=) n.329+3018G= | |
6 | g.33443588C>G | CA137073261 | SYNGAP1,SYNGAP1-AS1 | c.2778C>G (p.Pro926=) c.3036C>G (p.Pro1012=) c.2994C>G (p.Pro998=) c.2859C>G (p.Pro953=) c.2991C>G (p.Pro997=) n.329+3018G>C | dbSNP |
6 | g.33443588C>T | CA450104192 | SYNGAP1,SYNGAP1-AS1 | c.2778C>T (p.Pro926=) c.3036C>T (p.Pro1012=) c.2994C>T (p.Pro998=) c.2859C>T (p.Pro953=) c.2991C>T (p.Pro997=) n.329+3018G>A | gnomAD v4 |
6 | g.33443588_33443589insCGAGA | CA2678276560 | SYNGAP1,SYNGAP1-AS1 | c.2778_2779insCGAGA (p.Ser927ArgfsTer?) c.3036_3037insCGAGA (p.Ser1013ArgfsTer?) c.2994_2995insCGAGA (p.Ser999ArgfsTer?) c.2859_2860insCGAGA (p.Ser954ArgfsTer?) c.2991_2992insCGAGA (p.Ser998ArgfsTer?) n.329+3017_329+3018insTCTCG | gnomAD v4 |
6 | g.33443589T>A | CA363630624 | SYNGAP1,SYNGAP1-AS1 | c.2779T>A (p.Ser927Thr) c.3037T>A (p.Ser1013Thr) c.2995T>A (p.Ser999Thr) c.2860T>A (p.Ser954Thr) c.2992T>A (p.Ser998Thr) n.329+3017A>T | |
6 | g.33443589T>C | CA3758974 | SYNGAP1,SYNGAP1-AS1 | c.2779T>C (p.Ser927Pro) c.3037T>C (p.Ser1013Pro) c.2995T>C (p.Ser999Pro) c.2860T>C (p.Ser954Pro) c.2992T>C (p.Ser998Pro) n.329+3017A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.33443589T>G | CA363630629 | SYNGAP1,SYNGAP1-AS1 | c.2779T>G (p.Ser927Ala) c.3037T>G (p.Ser1013Ala) c.2995T>G (p.Ser999Ala) c.2860T>G (p.Ser954Ala) c.2992T>G (p.Ser998Ala) n.329+3017A>C | |
6 | g.33443589T= | CA1620014694 | SYNGAP1,SYNGAP1-AS1 | c.2779T= (p.Ser927=) c.3037T= (p.Ser1013=) c.2995T= (p.Ser999=) c.2860T= (p.Ser954=) c.2992T= (p.Ser998=) n.329+3017A= | |
6 | g.33443590C>A | CA363630640 | SYNGAP1,SYNGAP1-AS1 | c.2780C>A (p.Ser927Tyr) c.3038C>A (p.Ser1013Tyr) c.2996C>A (p.Ser999Tyr) c.2861C>A (p.Ser954Tyr) c.2993C>A (p.Ser998Tyr) n.329+3016G>T | |
6 | g.33443590C= | CA1620014695 | SYNGAP1,SYNGAP1-AS1 | c.2780C= (p.Ser927=) c.3038C= (p.Ser1013=) c.2996C= (p.Ser999=) c.2861C= (p.Ser954=) c.2993C= (p.Ser998=) n.329+3016G= | |
6 | g.33443590C>G | CA3758975 | SYNGAP1,SYNGAP1-AS1 | c.2780C>G (p.Ser927Cys) c.3038C>G (p.Ser1013Cys) c.2996C>G (p.Ser999Cys) c.2861C>G (p.Ser954Cys) c.2993C>G (p.Ser998Cys) n.329+3016G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.33443590C>T | CA363630635 | SYNGAP1,SYNGAP1-AS1 | c.2780C>T (p.Ser927Phe) c.3038C>T (p.Ser1013Phe) c.2996C>T (p.Ser999Phe) c.2861C>T (p.Ser954Phe) c.2993C>T (p.Ser998Phe) n.329+3016G>A | gnomAD v4 |
6 | g.33443591_33443594del | CA2770567224 | SYNGAP1,SYNGAP1-AS1 | c.2781_2784del (p.Gly928LeufsTer?) c.3039_3042del (p.Gly1014LeufsTer?) c.2997_3000del (p.Gly1000LeufsTer?) c.2862_2865del (p.Gly955LeufsTer?) c.2994_2997del (p.Gly999LeufsTer?) n.329+3013_329+3016del | |
6 | g.33443591T>A | CA450104196 | SYNGAP1,SYNGAP1-AS1 | c.2781T>A (p.Ser927=) c.3039T>A (p.Ser1013=) c.2997T>A (p.Ser999=) c.2862T>A (p.Ser954=) c.2994T>A (p.Ser998=) n.329+3015A>T | gnomAD v4 |
6 | g.33443591T>C | CA3758976 | SYNGAP1,SYNGAP1-AS1 | c.2781T>C (p.Ser927=) c.3039T>C (p.Ser1013=) c.2997T>C (p.Ser999=) c.2862T>C (p.Ser954=) c.2994T>C (p.Ser998=) n.329+3015A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.33443591T>G | CA450104197 | SYNGAP1,SYNGAP1-AS1 | c.2781T>G (p.Ser927=) c.3039T>G (p.Ser1013=) c.2997T>G (p.Ser999=) c.2862T>G (p.Ser954=) c.2994T>G (p.Ser998=) n.329+3015A>C | |
6 | g.33443591T= | CA1620014696 | SYNGAP1,SYNGAP1-AS1 | c.2781T= (p.Ser927=) c.3039T= (p.Ser1013=) c.2997T= (p.Ser999=) c.2862T= (p.Ser954=) c.2994T= (p.Ser998=) n.329+3015A= | |
6 | g.33443592G>A | CA363630643 | SYNGAP1,SYNGAP1-AS1 | c.2782G>A (p.Gly928Ser) c.3040G>A (p.Gly1014Ser) c.2998G>A (p.Gly1000Ser) c.2863G>A (p.Gly955Ser) c.2995G>A (p.Gly999Ser) n.329+3014C>T | dbSNP |
6 | g.33443592G>C | CA363630647 | SYNGAP1,SYNGAP1-AS1 | c.2782G>C (p.Gly928Arg) c.3040G>C (p.Gly1014Arg) c.2998G>C (p.Gly1000Arg) c.2863G>C (p.Gly955Arg) c.2995G>C (p.Gly999Arg) n.329+3014C>G | |
6 | g.33443592G>T | CA363630649 | SYNGAP1,SYNGAP1-AS1 | c.2782G>T (p.Gly928Cys) c.3040G>T (p.Gly1014Cys) c.2998G>T (p.Gly1000Cys) c.2863G>T (p.Gly955Cys) c.2995G>T (p.Gly999Cys) n.329+3014C>A | |
6 | g.33443593del | CA2678276573 | SYNGAP1,SYNGAP1-AS1 | c.2783del (p.Gly928AlafsTer?) c.3041del (p.Gly1014AlafsTer?) c.2999del (p.Gly1000AlafsTer?) c.2864del (p.Gly955AlafsTer?) c.2996del (p.Gly999AlafsTer?) n.329+3014del | gnomAD v4 |
6 | g.33443592_33443594del | CA2678276572 | SYNGAP1,SYNGAP1-AS1 | c.2782_2784del (p.Gly928del) c.3040_3042del (p.Gly1014del) c.2998_3000del (p.Gly1000del) c.2863_2865del (p.Gly955del) c.2995_2997del (p.Gly999del) n.329+3012_329+3014del | gnomAD v4 |
6 | g.33443593G>A | CA363630651 | SYNGAP1,SYNGAP1-AS1 | c.2783G>A (p.Gly928Asp) c.3041G>A (p.Gly1014Asp) c.2999G>A (p.Gly1000Asp) c.2864G>A (p.Gly955Asp) c.2996G>A (p.Gly999Asp) n.329+3013C>T | gnomAD v4 |
6 | g.33443593G>C | CA363630653 | SYNGAP1,SYNGAP1-AS1 | c.2783G>C (p.Gly928Ala) c.3041G>C (p.Gly1014Ala) c.2999G>C (p.Gly1000Ala) c.2864G>C (p.Gly955Ala) c.2996G>C (p.Gly999Ala) n.329+3013C>G | |
6 | g.33443593G= | CA1620014697 | SYNGAP1,SYNGAP1-AS1 | c.2783G= (p.Gly928=) c.3041G= (p.Gly1014=) c.2999G= (p.Gly1000=) c.2864G= (p.Gly955=) c.2996G= (p.Gly999=) n.329+3013C= | |
6 | g.33443593G>T | CA363630658 | SYNGAP1,SYNGAP1-AS1 | c.2783G>T (p.Gly928Val) c.3041G>T (p.Gly1014Val) c.2999G>T (p.Gly1000Val) c.2864G>T (p.Gly955Val) c.2996G>T (p.Gly999Val) n.329+3013C>A | ClinVar dbSNP |
6 | g.33443594C>A | CA450104201 | SYNGAP1,SYNGAP1-AS1 | c.2784C>A (p.Gly928=) c.3042C>A (p.Gly1014=) c.3000C>A (p.Gly1000=) c.2865C>A (p.Gly955=) c.2997C>A (p.Gly999=) n.329+3012G>T | |
6 | g.33443594C= | CA1620014698 | SYNGAP1,SYNGAP1-AS1 | c.2784C= (p.Gly928=) c.3042C= (p.Gly1014=) c.3000C= (p.Gly1000=) c.2865C= (p.Gly955=) c.2997C= (p.Gly999=) n.329+3012G= | |
6 | g.33443594C>G | CA450104202 | SYNGAP1,SYNGAP1-AS1 | c.2784C>G (p.Gly928=) c.3042C>G (p.Gly1014=) c.3000C>G (p.Gly1000=) c.2865C>G (p.Gly955=) c.2997C>G (p.Gly999=) n.329+3012G>C | |
6 | g.33443594C>T | CA137073282 | SYNGAP1,SYNGAP1-AS1 | c.2784C>T (p.Gly928=) c.3042C>T (p.Gly1014=) c.3000C>T (p.Gly1000=) c.2865C>T (p.Gly955=) c.2997C>T (p.Gly999=) n.329+3012G>A | dbSNP gnomAD v4 |
6 | g.33443594_33443595insGACC | CA2678276581 | SYNGAP1,SYNGAP1-AS1 | c.2784_2785insGACC (p.Thr929AspfsTer3) c.3042_3043insGACC (p.Thr1015AspfsTer3) c.3000_3001insGACC (p.Thr1001AspfsTer3) c.2865_2866insGACC (p.Thr956AspfsTer3) c.2997_2998insGACC (p.Thr1000AspfsTer3) n.329+3012_329+3013insGTCG | gnomAD v4 |
6 | g.33443595_33443596del | CA2678276582 | SYNGAP1,SYNGAP1-AS1 | c.2785_2786del (p.Thr929Ter) c.3043_3044del (p.Thr1015Ter) c.3001_3002del (p.Thr1001Ter) c.2866_2867del (p.Thr956Ter) c.2998_2999del (p.Thr1000Ter) n.329+3011_329+3012del | gnomAD v4 |
6 | g.33443595A>C | CA363630663 | SYNGAP1,SYNGAP1-AS1 | c.2785A>C (p.Thr929Pro) c.3043A>C (p.Thr1015Pro) c.3001A>C (p.Thr1001Pro) c.2866A>C (p.Thr956Pro) c.2998A>C (p.Thr1000Pro) n.329+3011T>G | |
6 | g.33443595A>G | CA363630666 | SYNGAP1,SYNGAP1-AS1 | c.2785A>G (p.Thr929Ala) c.3043A>G (p.Thr1015Ala) c.3001A>G (p.Thr1001Ala) c.2866A>G (p.Thr956Ala) c.2998A>G (p.Thr1000Ala) n.329+3011T>C | |
6 | g.33443595A>T | CA363630671 | SYNGAP1,SYNGAP1-AS1 | c.2785A>T (p.Thr929Ser) c.3043A>T (p.Thr1015Ser) c.3001A>T (p.Thr1001Ser) c.2866A>T (p.Thr956Ser) c.2998A>T (p.Thr1000Ser) n.329+3011T>A | |
6 | g.33443596C>A | CA363630683 | SYNGAP1,SYNGAP1-AS1 | c.2786C>A (p.Thr929Asn) c.3044C>A (p.Thr1015Asn) c.3002C>A (p.Thr1001Asn) c.2867C>A (p.Thr956Asn) c.2999C>A (p.Thr1000Asn) n.329+3010G>T | |
6 | g.33443596C>G | CA363630679 | SYNGAP1,SYNGAP1-AS1 | c.2786C>G (p.Thr929Ser) c.3044C>G (p.Thr1015Ser) c.3002C>G (p.Thr1001Ser) c.2867C>G (p.Thr956Ser) c.2999C>G (p.Thr1000Ser) n.329+3010G>C | |
6 | g.33443596C>T | CA363630676 | SYNGAP1,SYNGAP1-AS1 | c.2786C>T (p.Thr929Ile) c.3044C>T (p.Thr1015Ile) c.3002C>T (p.Thr1001Ile) c.2867C>T (p.Thr956Ile) c.2999C>T (p.Thr1000Ile) n.329+3010G>A | |
6 | g.33443596_33443598del | CA2678276588 | SYNGAP1,SYNGAP1-AS1 | c.2786_2788del (p.Thr929_Asp930delinsAsn) c.3044_3046del (p.Thr1015_Asp1016delinsAsn) c.3002_3004del (p.Thr1001_Asp1002delinsAsn) c.2867_2869del (p.Thr956_Asp957delinsAsn) c.2999_3001del (p.Thr1000_Asp1001delinsAsn) n.329+3008_329+3010del | gnomAD v4 |
6 | g.33443597del | CA2678276597 | SYNGAP1,SYNGAP1-AS1 | c.2787del (p.Asp930ThrfsTer?) c.3045del (p.Asp1016ThrfsTer?) c.3003del (p.Asp1002ThrfsTer?) c.2868del (p.Asp957ThrfsTer?) c.3000del (p.Asp1001ThrfsTer?) n.329+3009del | gnomAD v4 |
6 | g.33443597T>A | CA450104207 | SYNGAP1,SYNGAP1-AS1 | c.2787T>A (p.Thr929=) c.3045T>A (p.Thr1015=) c.3003T>A (p.Thr1001=) c.2868T>A (p.Thr956=) c.3000T>A (p.Thr1000=) n.329+3009A>T | gnomAD v4 |
6 | g.33443597T>C | CA3758977 | SYNGAP1,SYNGAP1-AS1 | c.2787T>C (p.Thr929=) c.3045T>C (p.Thr1015=) c.3003T>C (p.Thr1001=) c.2868T>C (p.Thr956=) c.3000T>C (p.Thr1000=) n.329+3009A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.33443597T>G | CA450104206 | SYNGAP1,SYNGAP1-AS1 | c.2787T>G (p.Thr929=) c.3045T>G (p.Thr1015=) c.3003T>G (p.Thr1001=) c.2868T>G (p.Thr956=) c.3000T>G (p.Thr1000=) n.329+3009A>C | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
6 | g.33443597T= | CA1620014699 | SYNGAP1,SYNGAP1-AS1 | c.2787T= (p.Thr929=) c.3045T= (p.Thr1015=) c.3003T= (p.Thr1001=) c.2868T= (p.Thr956=) c.3000T= (p.Thr1000=) n.329+3009A= | |
6 | g.33443597_33443598del | CA2678276595 | SYNGAP1,SYNGAP1-AS1 | c.2787_2788del (p.Asp930LeufsTer?) c.3045_3046del (p.Asp1016LeufsTer?) c.3003_3004del (p.Asp1002LeufsTer?) c.2868_2869del (p.Asp957LeufsTer?) c.3000_3001del (p.Asp1001LeufsTer?) n.329+3008_329+3009del | gnomAD v4 |
6 | g.33443597_33443598insC | CA2678276598 | SYNGAP1,SYNGAP1-AS1 | c.2787_2788insC (p.Asp930ArgfsTer?) c.3045_3046insC (p.Asp1016ArgfsTer?) c.3003_3004insC (p.Asp1002ArgfsTer?) c.2868_2869insC (p.Asp957ArgfsTer?) c.3000_3001insC (p.Asp1001ArgfsTer?) n.329+3008_329+3009insG | gnomAD v4 |
6 | g.33443598G>A | CA363630701 | SYNGAP1,SYNGAP1-AS1 | c.2788G>A (p.Asp930Asn) c.3046G>A (p.Asp1016Asn) c.3004G>A (p.Asp1002Asn) c.2869G>A (p.Asp957Asn) c.3001G>A (p.Asp1001Asn) n.329+3008C>T | COSMIC COSMIC |
6 | g.33443598G>C | CA363630691 | SYNGAP1,SYNGAP1-AS1 | c.2788G>C (p.Asp930His) c.3046G>C (p.Asp1016His) c.3004G>C (p.Asp1002His) c.2869G>C (p.Asp957His) c.3001G>C (p.Asp1001His) n.329+3008C>G | gnomAD v4 |
6 | g.33443598G>T | CA363630697 | SYNGAP1,SYNGAP1-AS1 | c.2788G>T (p.Asp930Tyr) c.3046G>T (p.Asp1016Tyr) c.3004G>T (p.Asp1002Tyr) c.2869G>T (p.Asp957Tyr) c.3001G>T (p.Asp1001Tyr) n.329+3008C>A | |
6 | g.33443598_33443600del | CA2678276600 | SYNGAP1,SYNGAP1-AS1 | c.2788_2790del (p.Asp930del) c.3046_3048del (p.Asp1016del) c.3004_3006del (p.Asp1002del) c.2869_2871del (p.Asp957del) c.3001_3003del (p.Asp1001del) n.329+3006_329+3008del | gnomAD v4 |
6 | g.33443598_33443606del | CA2770567229 | SYNGAP1,SYNGAP1-AS1 | c.2788_2796del (p.Asp930_Thr932del) c.3046_3054del (p.Asp1016_Thr1018del) c.3004_3012del (p.Asp1002_Thr1004del) c.2869_2877del (p.Asp957_Thr959del) c.3001_3009del (p.Asp1001_Thr1003del) n.329+3000_329+3008del | |
6 | g.33443599del | CA2678276602 | SYNGAP1,SYNGAP1-AS1 | c.2789del (p.Asp930AlafsTer?) c.3047del (p.Asp1016AlafsTer?) c.3005del (p.Asp1002AlafsTer?) c.2870del (p.Asp957AlafsTer?) c.3002del (p.Asp1001AlafsTer?) n.329+3007del | gnomAD v4 |
6 | g.33443599A>C | CA363630706 | SYNGAP1,SYNGAP1-AS1 | c.2789A>C (p.Asp930Ala) c.3047A>C (p.Asp1016Ala) c.3005A>C (p.Asp1002Ala) c.2870A>C (p.Asp957Ala) c.3002A>C (p.Asp1001Ala) n.329+3007T>G | |
6 | g.33443599A>G | CA363630710 | SYNGAP1,SYNGAP1-AS1 | c.2789A>G (p.Asp930Gly) c.3047A>G (p.Asp1016Gly) c.3005A>G (p.Asp1002Gly) c.2870A>G (p.Asp957Gly) c.3002A>G (p.Asp1001Gly) n.329+3007T>C | |
6 | g.33443599A>T | CA363630714 | SYNGAP1,SYNGAP1-AS1 | c.2789A>T (p.Asp930Val) c.3047A>T (p.Asp1016Val) c.3005A>T (p.Asp1002Val) c.2870A>T (p.Asp957Val) c.3002A>T (p.Asp1001Val) n.329+3007T>A | |
6 | g.33443599dup | CA2770567230 | SYNGAP1,SYNGAP1-AS1 | c.2789dup (p.Asp930GlufsTer?) c.3047dup (p.Asp1016GlufsTer?) c.3005dup (p.Asp1002GlufsTer?) c.2870dup (p.Asp957GlufsTer?) c.3002dup (p.Asp1001GlufsTer?) n.329+3007dup | |
6 | g.33443599_33443600delinsAC | CA1620014700 | SYNGAP1,SYNGAP1-AS1 | c.2789_2790delinsAC (p.Asp930=) c.3047_3048delinsAC (p.Asp1016=) c.3005_3006delinsAC (p.Asp1002=) c.2870_2871delinsAC (p.Asp957=) c.3002_3003delinsAC (p.Asp1001=) n.329+3006_329+3007delinsGT | |
6 | g.33443599_33443601del | CA2678276603 | SYNGAP1,SYNGAP1-AS1 | c.2789_2791del (p.Asp930_Phe931delinsVal) c.3047_3049del (p.Asp1016_Phe1017delinsVal) c.3005_3007del (p.Asp1002_Phe1003delinsVal) c.2870_2872del (p.Asp957_Phe958delinsVal) c.3002_3004del (p.Asp1001_Phe1002delinsVal) n.329+3005_329+3007del | gnomAD v4 |
6 | g.33443599_33443600insAT | CA2770567231 | SYNGAP1,SYNGAP1-AS1 | c.2789_2790insAT (p.Asp930GlufsTer?) c.3047_3048insAT (p.Asp1016GlufsTer?) c.3005_3006insAT (p.Asp1002GlufsTer?) c.2870_2871insAT (p.Asp957GlufsTer?) c.3002_3003insAT (p.Asp1001GlufsTer?) n.329+3006_329+3007insAT | |
6 | g.33443599_33443600insGAT | CA2678276607 | SYNGAP1,SYNGAP1-AS1 | c.2789_2790insGAT (p.Asp930delinsGluIle) c.3047_3048insGAT (p.Asp1016delinsGluIle) c.3005_3006insGAT (p.Asp1002delinsGluIle) c.2870_2871insGAT (p.Asp957delinsGluIle) c.3002_3003insGAT (p.Asp1001delinsGluIle) n.329+3006_329+3007insATC | gnomAD v4 |
6 | g.33443600del | CA566700710 | SYNGAP1,SYNGAP1-AS1 | c.2790del (p.Phe931SerfsTer?) c.3048del (p.Phe1017SerfsTer?) c.3006del (p.Phe1003SerfsTer?) c.2871del (p.Phe958SerfsTer?) c.3003del (p.Phe1002SerfsTer?) n.329+3006del | dbSNP gnomAD v2 gnomAD v4 |
6 | g.33443600C>A | CA363630717 | SYNGAP1,SYNGAP1-AS1 | c.2790C>A (p.Asp930Glu) c.3048C>A (p.Asp1016Glu) c.3006C>A (p.Asp1002Glu) c.2871C>A (p.Asp957Glu) c.3003C>A (p.Asp1001Glu) n.329+3006G>T | dbSNP gnomAD v3 gnomAD v4 |
6 | g.33443600C= | CA1620014701 | SYNGAP1,SYNGAP1-AS1 | c.2790C= (p.Asp930=) c.3048C= (p.Asp1016=) c.3006C= (p.Asp1002=) c.2871C= (p.Asp957=) c.3003C= (p.Asp1001=) n.329+3006G= | |
6 | g.33443600C>G | CA363630726 | SYNGAP1,SYNGAP1-AS1 | c.2790C>G (p.Asp930Glu) c.3048C>G (p.Asp1016Glu) c.3006C>G (p.Asp1002Glu) c.2871C>G (p.Asp957Glu) c.3003C>G (p.Asp1001Glu) n.329+3006G>C | |
6 | g.33443600C>T | CA137073290 | SYNGAP1,SYNGAP1-AS1 | c.2790C>T (p.Asp930=) c.3048C>T (p.Asp1016=) c.3006C>T (p.Asp1002=) c.2871C>T (p.Asp957=) c.3003C>T (p.Asp1001=) n.329+3006G>A | dbSNP |
6 | g.33443600_33443601insAA | CA2678276609 | SYNGAP1,SYNGAP1-AS1 | c.2790_2791insAA (p.Phe931AsnfsTer?) c.3048_3049insAA (p.Phe1017AsnfsTer?) c.3006_3007insAA (p.Phe1003AsnfsTer?) c.2871_2872insAA (p.Phe958AsnfsTer?) c.3003_3004insAA (p.Phe1002AsnfsTer?) n.329+3005_329+3006insTT | gnomAD v4 |
6 | g.33443601T>A | CA363630736 | SYNGAP1,SYNGAP1-AS1 | c.2791T>A (p.Phe931Ile) c.3049T>A (p.Phe1017Ile) c.3007T>A (p.Phe1003Ile) c.2872T>A (p.Phe958Ile) c.3004T>A (p.Phe1002Ile) n.329+3005A>T | |
6 | g.33443601T>C | CA363630729 | SYNGAP1,SYNGAP1-AS1 | c.2791T>C (p.Phe931Leu) c.3049T>C (p.Phe1017Leu) c.3007T>C (p.Phe1003Leu) c.2872T>C (p.Phe958Leu) c.3004T>C (p.Phe1002Leu) n.329+3005A>G | |
6 | g.33443601T>G | CA363630732 | SYNGAP1,SYNGAP1-AS1 | c.2791T>G (p.Phe931Val) c.3049T>G (p.Phe1017Val) c.3007T>G (p.Phe1003Val) c.2872T>G (p.Phe958Val) c.3004T>G (p.Phe1002Val) n.329+3005A>C | |
6 | g.33443601_33443602del | CA2770567232 | SYNGAP1,SYNGAP1-AS1 | c.2791_2792del (p.Phe931HisfsTer?) c.3049_3050del (p.Phe1017HisfsTer?) c.3007_3008del (p.Phe1003HisfsTer?) c.2872_2873del (p.Phe958HisfsTer?) c.3004_3005del (p.Phe1002HisfsTer?) n.329+3004_329+3005del | |
6 | g.33443601_33443602insATTA | CA2678276613 | SYNGAP1,SYNGAP1-AS1 | c.2791_2792insATTA (p.Phe931TyrfsTer?) c.3049_3050insATTA (p.Phe1017TyrfsTer?) c.3007_3008insATTA (p.Phe1003TyrfsTer?) c.2872_2873insATTA (p.Phe958TyrfsTer?) c.3004_3005insATTA (p.Phe1002TyrfsTer?) n.329+3004_329+3005insTAAT | gnomAD v4 |
6 | g.33443601_33443602insACACGC | CA2678276612 | SYNGAP1,SYNGAP1-AS1 | c.2791_2792insACACGC (p.Phe931delinsTyrThrLeu) c.3049_3050insACACGC (p.Phe1017delinsTyrThrLeu) c.3007_3008insACACGC (p.Phe1003delinsTyrThrLeu) c.2872_2873insACACGC (p.Phe958delinsTyrThrLeu) c.3004_3005insACACGC (p.Phe1002delinsTyrThrLeu) n.329+3004_329+3005insGCGTGT | gnomAD v4 |
6 | g.33443602T>A | CA363630739 | SYNGAP1,SYNGAP1-AS1 | c.2792T>A (p.Phe931Tyr) c.3050T>A (p.Phe1017Tyr) c.3008T>A (p.Phe1003Tyr) c.2873T>A (p.Phe958Tyr) c.3005T>A (p.Phe1002Tyr) n.329+3004A>T | gnomAD v4 |
6 | g.33443602T>C | CA363630744 | SYNGAP1,SYNGAP1-AS1 | c.2792T>C (p.Phe931Ser) c.3050T>C (p.Phe1017Ser) c.3008T>C (p.Phe1003Ser) c.2873T>C (p.Phe958Ser) c.3005T>C (p.Phe1002Ser) n.329+3004A>G | |
6 | g.33443602T>G | CA363630747 | SYNGAP1,SYNGAP1-AS1 | c.2792T>G (p.Phe931Cys) c.3050T>G (p.Phe1017Cys) c.3008T>G (p.Phe1003Cys) c.2873T>G (p.Phe958Cys) c.3005T>G (p.Phe1002Cys) n.329+3004A>C | |
6 | g.33443602_33443603insAAT | CA2678276614 | SYNGAP1,SYNGAP1-AS1 | c.2792_2793insAAT (p.Phe931delinsLeuIle) c.3050_3051insAAT (p.Phe1017delinsLeuIle) c.3008_3009insAAT (p.Phe1003delinsLeuIle) c.2873_2874insAAT (p.Phe958delinsLeuIle) c.3005_3006insAAT (p.Phe1002delinsLeuIle) n.329+3004_329+3005insTTA | gnomAD v4 |
6 | g.33443602_33443606del | CA2678276615 | SYNGAP1,SYNGAP1-AS1 | c.2792_2796del (p.Phe931SerfsTer?) c.3050_3054del (p.Phe1017SerfsTer?) c.3008_3012del (p.Phe1003SerfsTer?) c.2873_2877del (p.Phe958SerfsTer?) c.3005_3009del (p.Phe1002SerfsTer?) n.329+3000_329+3004del | gnomAD v4 |
6 | g.33443603C>A | CA363630752 | SYNGAP1,SYNGAP1-AS1 | c.2793C>A (p.Phe931Leu) c.3051C>A (p.Phe1017Leu) c.3009C>A (p.Phe1003Leu) c.2874C>A (p.Phe958Leu) c.3006C>A (p.Phe1002Leu) n.329+3003G>T | dbSNP gnomAD v2 gnomAD v4 |
6 | g.33443603C= | CA1620014702 | SYNGAP1,SYNGAP1-AS1 | c.2793C= (p.Phe931=) c.3051C= (p.Phe1017=) c.3009C= (p.Phe1003=) c.2874C= (p.Phe958=) c.3006C= (p.Phe1002=) n.329+3003G= | |
6 | g.33443603C>G | CA363630767 | SYNGAP1,SYNGAP1-AS1 | c.2793C>G (p.Phe931Leu) c.3051C>G (p.Phe1017Leu) c.3009C>G (p.Phe1003Leu) c.2874C>G (p.Phe958Leu) c.3006C>G (p.Phe1002Leu) n.329+3003G>C | |
6 | g.33443603C>T | CA450104208 | SYNGAP1,SYNGAP1-AS1 | c.2793C>T (p.Phe931=) c.3051C>T (p.Phe1017=) c.3009C>T (p.Phe1003=) c.2874C>T (p.Phe958=) c.3006C>T (p.Phe1002=) n.329+3003G>A | |
6 | g.33443604_33443605del | CA2770567233 | SYNGAP1,SYNGAP1-AS1 | c.2794_2795del (p.Thr932ProfsTer?) c.3052_3053del (p.Thr1018ProfsTer?) c.3010_3011del (p.Thr1004ProfsTer?) c.2875_2876del (p.Thr959ProfsTer?) c.3007_3008del (p.Thr1003ProfsTer?) n.329+3002_329+3003del | |
6 | g.33443604_33443607del | CA2678276616 | SYNGAP1,SYNGAP1-AS1 | c.2794_2797del (p.Thr932ValfsTer?) c.3052_3055del (p.Thr1018ValfsTer?) c.3010_3013del (p.Thr1004ValfsTer?) c.2875_2878del (p.Thr959ValfsTer?) c.3007_3010del (p.Thr1003ValfsTer?) n.329+3000_329+3003del | gnomAD v4 |
6 | g.33443604A>C | CA363630772 | SYNGAP1,SYNGAP1-AS1 | c.2794A>C (p.Thr932Pro) c.3052A>C (p.Thr1018Pro) c.3010A>C (p.Thr1004Pro) c.2875A>C (p.Thr959Pro) c.3007A>C (p.Thr1003Pro) n.329+3002T>G | |
6 | g.33443604A>G | CA363630777 | SYNGAP1,SYNGAP1-AS1 | c.2794A>G (p.Thr932Ala) c.3052A>G (p.Thr1018Ala) c.3010A>G (p.Thr1004Ala) c.2875A>G (p.Thr959Ala) c.3007A>G (p.Thr1003Ala) n.329+3002T>C | |
6 | g.33443604A>T | CA363630774 | SYNGAP1,SYNGAP1-AS1 | c.2794A>T (p.Thr932Ser) c.3052A>T (p.Thr1018Ser) c.3010A>T (p.Thr1004Ser) c.2875A>T (p.Thr959Ser) c.3007A>T (p.Thr1003Ser) n.329+3002T>A | |
6 | g.33443604dup | CA2678276617 | SYNGAP1,SYNGAP1-AS1 | c.2794dup (p.Thr932AsnfsTer?) c.3052dup (p.Thr1018AsnfsTer?) c.3010dup (p.Thr1004AsnfsTer?) c.2875dup (p.Thr959AsnfsTer?) c.3007dup (p.Thr1003AsnfsTer?) n.329+3002dup | gnomAD v4 |
6 | g.33443605C>A | CA363630779 | SYNGAP1,SYNGAP1-AS1 | c.2795C>A (p.Thr932Asn) c.3053C>A (p.Thr1018Asn) c.3011C>A (p.Thr1004Asn) c.2876C>A (p.Thr959Asn) c.3008C>A (p.Thr1003Asn) n.329+3001G>T | |
6 | g.33443605C= | CA1620014703 | SYNGAP1,SYNGAP1-AS1 | c.2795C= (p.Thr932=) c.3053C= (p.Thr1018=) c.3011C= (p.Thr1004=) c.2876C= (p.Thr959=) c.3008C= (p.Thr1003=) n.329+3001G= | |
6 | g.33443605C>G | CA363630781 | SYNGAP1,SYNGAP1-AS1 | c.2795C>G (p.Thr932Ser) c.3053C>G (p.Thr1018Ser) c.3011C>G (p.Thr1004Ser) c.2876C>G (p.Thr959Ser) c.3008C>G (p.Thr1003Ser) n.329+3001G>C | |
6 | g.33443605C>T | CA363630784 | SYNGAP1,SYNGAP1-AS1 | c.2795C>T (p.Thr932Ile) c.3053C>T (p.Thr1018Ile) c.3011C>T (p.Thr1004Ile) c.2876C>T (p.Thr959Ile) c.3008C>T (p.Thr1003Ile) n.329+3001G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
6 | g.33443607del | CA2739272945 | SYNGAP1,SYNGAP1-AS1 | c.2797del (p.Arg933ValfsTer?) c.3055del (p.Arg1019ValfsTer?) c.3013del (p.Arg1005ValfsTer?) c.2878del (p.Arg960ValfsTer?) c.3010del (p.Arg1004ValfsTer?) n.329+3001del | ClinVar |
6 | g.33443605_33443606insG | CA2678276623 | SYNGAP1,SYNGAP1-AS1 | c.2795_2796insG (p.Arg933ProfsTer?) c.3053_3054insG (p.Arg1019ProfsTer?) c.3011_3012insG (p.Arg1005ProfsTer?) c.2876_2877insG (p.Arg960ProfsTer?) c.3008_3009insG (p.Arg1004ProfsTer?) n.329+3000_329+3001insC | gnomAD v4 |
6 | g.33443605_33443606insGA | CA2678276624 | SYNGAP1,SYNGAP1-AS1 | c.2795_2796insGA (p.Arg933ThrfsTer?) c.3053_3054insGA (p.Arg1019ThrfsTer?) c.3011_3012insGA (p.Arg1005ThrfsTer?) c.2876_2877insGA (p.Arg960ThrfsTer?) c.3008_3009insGA (p.Arg1004ThrfsTer?) n.329+3000_329+3001insTC | gnomAD v4 |
6 | g.33443605_33443606insAGA | CA2678276625 | SYNGAP1,SYNGAP1-AS1 | c.2795_2796insAGA (p.Thr932_Arg933insAsp) c.3053_3054insAGA (p.Thr1018_Arg1019insAsp) c.3011_3012insAGA (p.Thr1004_Arg1005insAsp) c.2876_2877insAGA (p.Thr959_Arg960insAsp) c.3008_3009insAGA (p.Thr1003_Arg1004insAsp) n.329+3000_329+3001insTCT | gnomAD v4 |
6 | g.33443605_33443606insAGAGTAGA | CA2678276626 | SYNGAP1,SYNGAP1-AS1 | c.2795_2796insAGAGTAGA (p.Arg933GlufsTer2) c.3053_3054insAGAGTAGA (p.Arg1019GlufsTer2) c.3011_3012insAGAGTAGA (p.Arg1005GlufsTer2) c.2876_2877insAGAGTAGA (p.Arg960GlufsTer2) c.3008_3009insAGAGTAGA (p.Arg1004GlufsTer2) n.329+3000_329+3001insTCTACTCT | gnomAD v4 |
6 | g.33443606C>A | CA450104209 | SYNGAP1,SYNGAP1-AS1 | c.2796C>A (p.Thr932=) c.3054C>A (p.Thr1018=) c.3012C>A (p.Thr1004=) c.2877C>A (p.Thr959=) c.3009C>A (p.Thr1003=) n.329+3000G>T | |
6 | g.33443606C= | CA1620014704 | SYNGAP1,SYNGAP1-AS1 | c.2796C= (p.Thr932=) c.3054C= (p.Thr1018=) c.3012C= (p.Thr1004=) c.2877C= (p.Thr959=) c.3009C= (p.Thr1003=) n.329+3000G= | |
6 | g.33443606C>G | CA3758978 | SYNGAP1,SYNGAP1-AS1 | c.2796C>G (p.Thr932=) c.3054C>G (p.Thr1018=) c.3012C>G (p.Thr1004=) c.2877C>G (p.Thr959=) c.3009C>G (p.Thr1003=) n.329+3000G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.33443606C>T | CA450104210 | SYNGAP1,SYNGAP1-AS1 | c.2796C>T (p.Thr932=) c.3054C>T (p.Thr1018=) c.3012C>T (p.Thr1004=) c.2877C>T (p.Thr959=) c.3009C>T (p.Thr1003=) n.329+3000G>A | gnomAD v4 |
6 | g.33443606_33443607insAT | CA2678276640 | SYNGAP1,SYNGAP1-AS1 | c.2796_2797insAT (p.Arg933IlefsTer?) c.3054_3055insAT (p.Arg1019IlefsTer?) c.3012_3013insAT (p.Arg1005IlefsTer?) c.2877_2878insAT (p.Arg960IlefsTer?) c.3009_3010insAT (p.Arg1004IlefsTer?) n.329+2999_329+3000insAT | gnomAD v4 |
6 | g.33443606_33443607insTT | CA2678276637 | SYNGAP1,SYNGAP1-AS1 | c.2796_2797insTT (p.Arg933PhefsTer?) c.3054_3055insTT (p.Arg1019PhefsTer?) c.3012_3013insTT (p.Arg1005PhefsTer?) c.2877_2878insTT (p.Arg960PhefsTer?) c.3009_3010insTT (p.Arg1004PhefsTer?) n.329+2999_329+3000insAA | gnomAD v4 |
6 | g.33443606_33443607insATT | CA2770567236 | SYNGAP1,SYNGAP1-AS1 | c.2796_2797insATT (p.Thr932_Arg933insIle) c.3054_3055insATT (p.Thr1018_Arg1019insIle) c.3012_3013insATT (p.Thr1004_Arg1005insIle) c.2877_2878insATT (p.Thr959_Arg960insIle) c.3009_3010insATT (p.Thr1003_Arg1004insIle) n.329+2999_329+3000insAAT | |
6 | g.33443606_33443607insTTT | CA2678276634 | SYNGAP1,SYNGAP1-AS1 | c.2796_2797insTTT (p.Thr932_Arg933insPhe) c.3054_3055insTTT (p.Thr1018_Arg1019insPhe) c.3012_3013insTTT (p.Thr1004_Arg1005insPhe) c.2877_2878insTTT (p.Thr959_Arg960insPhe) c.3009_3010insTTT (p.Thr1003_Arg1004insPhe) n.329+2999_329+3000insAAA | gnomAD v4 |
6 | g.33443606_33443607insGGTTAT | CA2678276639 | SYNGAP1,SYNGAP1-AS1 | c.2796_2797insGGTTAT (p.Thr932_Arg933insGlyTyr) c.3054_3055insGGTTAT (p.Thr1018_Arg1019insGlyTyr) c.3012_3013insGGTTAT (p.Thr1004_Arg1005insGlyTyr) c.2877_2878insGGTTAT (p.Thr959_Arg960insGlyTyr) c.3009_3010insGGTTAT (p.Thr1003_Arg1004insGlyTyr) n.329+2999_329+3000insATAACC | gnomAD v4 |
6 | g.33443606_33443607insACAATTT | CA2678276638 | SYNGAP1,SYNGAP1-AS1 | c.2796_2797insACAATTT (p.Arg933ThrfsTer?) c.3054_3055insACAATTT (p.Arg1019ThrfsTer?) c.3012_3013insACAATTT (p.Arg1005ThrfsTer?) c.2877_2878insACAATTT (p.Arg960ThrfsTer?) c.3009_3010insACAATTT (p.Arg1004ThrfsTer?) n.329+2999_329+3000insAAATTGT | gnomAD v4 |
6 | g.33443606_33443607insAGGTTGT | CA2770567235 | SYNGAP1,SYNGAP1-AS1 | c.2796_2797insAGGTTGT (p.Arg934LeufsTer?) c.3054_3055insAGGTTGT (p.Arg1020LeufsTer?) c.3012_3013insAGGTTGT (p.Arg1006LeufsTer?) c.2877_2878insAGGTTGT (p.Arg961LeufsTer?) c.3009_3010insAGGTTGT (p.Arg1005LeufsTer?) n.329+2999_329+3000insACAACCT | |
6 | g.33443606_33443607insAACTGATT | CA2678276632 | SYNGAP1,SYNGAP1-AS1 | c.2796_2797insAACTGATT (p.Arg933AsnfsTer2) c.3054_3055insAACTGATT (p.Arg1019AsnfsTer2) c.3012_3013insAACTGATT (p.Arg1005AsnfsTer2) c.2877_2878insAACTGATT (p.Arg960AsnfsTer2) c.3009_3010insAACTGATT (p.Arg1004AsnfsTer2) n.329+2999_329+3000insAATCAGTT | gnomAD v4 |
6 | g.33443606_33443607insTGTATTCT | CA2678276636 | SYNGAP1,SYNGAP1-AS1 | c.2796_2797insTGTATTCT (p.Arg933CysfsTer?) c.3054_3055insTGTATTCT (p.Arg1019CysfsTer?) c.3012_3013insTGTATTCT (p.Arg1005CysfsTer?) c.2877_2878insTGTATTCT (p.Arg960CysfsTer?) c.3009_3010insTGTATTCT (p.Arg1004CysfsTer?) n.329+2999_329+3000insAGAATACA | gnomAD v4 |
6 | g.33443607C>A | CA363630787 | SYNGAP1,SYNGAP1-AS1 | c.2797C>A (p.Arg933Ser) c.3055C>A (p.Arg1019Ser) c.3013C>A (p.Arg1005Ser) c.2878C>A (p.Arg960Ser) c.3010C>A (p.Arg1004Ser) n.329+2999G>T | COSMIC COSMIC |
6 | g.33443607C= | CA1620014705 | SYNGAP1,SYNGAP1-AS1 | c.2797C= (p.Arg933=) c.3055C= (p.Arg1019=) c.3013C= (p.Arg1005=) c.2878C= (p.Arg960=) c.3010C= (p.Arg1004=) n.329+2999G= | |
6 | g.33443607C>G | CA363630789 | SYNGAP1,SYNGAP1-AS1 | c.2797C>G (p.Arg933Gly) c.3055C>G (p.Arg1019Gly) c.3013C>G (p.Arg1005Gly) c.2878C>G (p.Arg960Gly) c.3010C>G (p.Arg1004Gly) n.329+2999G>C | |
6 | g.33443607C>T | CA3758979 | SYNGAP1,SYNGAP1-AS1 | c.2797C>T (p.Arg933Cys) c.3055C>T (p.Arg1019Cys) c.3013C>T (p.Arg1005Cys) c.2878C>T (p.Arg960Cys) c.3010C>T (p.Arg1004Cys) n.329+2999G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |