Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.33443364_33443399delinsGGGCCAGGTCCCCCAGGCGGCCATGGAGGGGGCGGTCA1620014601SYNGAP1,SYNGAP1-AS1c.2554_2589delinsGGGCCAGGTCCCCCAGGCGGCCATGGAGGGGGCGGT (p.Gly852=)
c.2812_2847delinsGGGCCAGGTCCCCCAGGCGGCCATGGAGGGGGCGGT (p.Gly938=)
c.2770_2805delinsGGGCCAGGTCCCCCAGGCGGCCATGGAGGGGGCGGT (p.Gly924=)
c.2635_2670delinsGGGCCAGGTCCCCCAGGCGGCCATGGAGGGGGCGGT (p.Gly879=)
c.2767_2802delinsGGGCCAGGTCCCCCAGGCGGCCATGGAGGGGGCGGT (p.Gly923=)
n.329+3207_329+3242delinsACCGCCCCCTCCATGGCCGCCTGGGGGACCTGGCCC
6g.33443370_33443404delCA891843219SYNGAP1,SYNGAP1-AS1c.2560_2594del (p.Gly854TrpfsTer?)
c.2818_2852del (p.Gly940TrpfsTer?)
c.2776_2810del (p.Gly926TrpfsTer?)
c.2641_2675del (p.Gly881TrpfsTer?)
c.2773_2807del (p.Gly925TrpfsTer?)
n.329+3207_329+3241del
 ClinVar dbSNP
6g.33443367_33443370delCA2695206221SYNGAP1,SYNGAP1-AS1c.2557_2560del (p.Pro853ValfsTer?)
c.2815_2818del (p.Pro939ValfsTer?)
c.2773_2776del (p.Pro925ValfsTer?)
c.2638_2641del (p.Pro880ValfsTer?)
c.2770_2773del (p.Pro924ValfsTer?)
n.329+3237_329+3240del
6g.33443370G>ACA363628690SYNGAP1,SYNGAP1-AS1c.2560G>A (p.Gly854Ser)
c.2818G>A (p.Gly940Ser)
c.2776G>A (p.Gly926Ser)
c.2641G>A (p.Gly881Ser)
c.2773G>A (p.Gly925Ser)
n.329+3236C>T
 ClinVar dbSNP gnomAD v4
6g.33443370G>CCA363628691SYNGAP1,SYNGAP1-AS1c.2560G>C (p.Gly854Arg)
c.2818G>C (p.Gly940Arg)
c.2776G>C (p.Gly926Arg)
c.2641G>C (p.Gly881Arg)
c.2773G>C (p.Gly925Arg)
n.329+3236C>G
 ClinVar dbSNP gnomAD v3 gnomAD v4
6g.33443370G=CA1620014603SYNGAP1,SYNGAP1-AS1c.2560G= (p.Gly854=)
c.2818G= (p.Gly940=)
c.2776G= (p.Gly926=)
c.2641G= (p.Gly881=)
c.2773G= (p.Gly925=)
n.329+3236C=
6g.33443370G>TCA363628692SYNGAP1,SYNGAP1-AS1c.2560G>T (p.Gly854Cys)
c.2818G>T (p.Gly940Cys)
c.2776G>T (p.Gly926Cys)
c.2641G>T (p.Gly881Cys)
c.2773G>T (p.Gly925Cys)
n.329+3236C>A
6g.33443371G>ACA363628694SYNGAP1,SYNGAP1-AS1c.2561G>A (p.Gly854Asp)
c.2819G>A (p.Gly940Asp)
c.2777G>A (p.Gly926Asp)
c.2642G>A (p.Gly881Asp)
c.2774G>A (p.Gly925Asp)
n.329+3235C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.33443371G>CCA363628696SYNGAP1,SYNGAP1-AS1c.2561G>C (p.Gly854Ala)
c.2819G>C (p.Gly940Ala)
c.2777G>C (p.Gly926Ala)
c.2642G>C (p.Gly881Ala)
c.2774G>C (p.Gly925Ala)
n.329+3235C>G
6g.33443371G=CA1620014604SYNGAP1,SYNGAP1-AS1c.2561G= (p.Gly854=)
c.2819G= (p.Gly940=)
c.2777G= (p.Gly926=)
c.2642G= (p.Gly881=)
c.2774G= (p.Gly925=)
n.329+3235C=
6g.33443371G>TCA363628699SYNGAP1,SYNGAP1-AS1c.2561G>T (p.Gly854Val)
c.2819G>T (p.Gly940Val)
c.2777G>T (p.Gly926Val)
c.2642G>T (p.Gly881Val)
c.2774G>T (p.Gly925Val)
n.329+3235C>A
6g.33443372T>ACA450104061SYNGAP1,SYNGAP1-AS1c.2562T>A (p.Gly854=)
c.2820T>A (p.Gly940=)
c.2778T>A (p.Gly926=)
c.2643T>A (p.Gly881=)
c.2775T>A (p.Gly925=)
n.329+3234A>T
6g.33443372T>CCA450104062SYNGAP1,SYNGAP1-AS1c.2562T>C (p.Gly854=)
c.2820T>C (p.Gly940=)
c.2778T>C (p.Gly926=)
c.2643T>C (p.Gly881=)
c.2775T>C (p.Gly925=)
n.329+3234A>G
6g.33443372T>GCA450104063SYNGAP1,SYNGAP1-AS1c.2562T>G (p.Gly854=)
c.2820T>G (p.Gly940=)
c.2778T>G (p.Gly926=)
c.2643T>G (p.Gly881=)
c.2775T>G (p.Gly925=)
n.329+3234A>C
6g.33443373C>ACA137073045SYNGAP1,SYNGAP1-AS1c.2563C>A (p.Pro855Thr)
c.2821C>A (p.Pro941Thr)
c.2779C>A (p.Pro927Thr)
c.2644C>A (p.Pro882Thr)
c.2776C>A (p.Pro926Thr)
n.329+3233G>T
 dbSNP gnomAD v3 gnomAD v4
6g.33443373C=CA1620014605SYNGAP1,SYNGAP1-AS1c.2563C= (p.Pro855=)
c.2821C= (p.Pro941=)
c.2779C= (p.Pro927=)
c.2644C= (p.Pro882=)
c.2776C= (p.Pro926=)
n.329+3233G=
6g.33443373C>GCA3758949SYNGAP1,SYNGAP1-AS1c.2563C>G (p.Pro855Ala)
c.2821C>G (p.Pro941Ala)
c.2779C>G (p.Pro927Ala)
c.2644C>G (p.Pro882Ala)
c.2776C>G (p.Pro926Ala)
n.329+3233G>C
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.33443373C>TCA3758948SYNGAP1,SYNGAP1-AS1c.2563C>T (p.Pro855Ser)
c.2821C>T (p.Pro941Ser)
c.2779C>T (p.Pro927Ser)
c.2644C>T (p.Pro882Ser)
c.2776C>T (p.Pro926Ser)
n.329+3233G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.33443374C>ACA363628714SYNGAP1,SYNGAP1-AS1c.2564C>A (p.Pro855His)
c.2822C>A (p.Pro941His)
c.2780C>A (p.Pro927His)
c.2645C>A (p.Pro882His)
c.2777C>A (p.Pro926His)
n.329+3232G>T
6g.33443374C>GCA363628716SYNGAP1,SYNGAP1-AS1c.2564C>G (p.Pro855Arg)
c.2822C>G (p.Pro941Arg)
c.2780C>G (p.Pro927Arg)
c.2645C>G (p.Pro882Arg)
c.2777C>G (p.Pro926Arg)
n.329+3232G>C
6g.33443374C>TCA363628719SYNGAP1,SYNGAP1-AS1c.2564C>T (p.Pro855Leu)
c.2822C>T (p.Pro941Leu)
c.2780C>T (p.Pro927Leu)
c.2645C>T (p.Pro882Leu)
c.2777C>T (p.Pro926Leu)
n.329+3232G>A
6g.33443375C>ACA450104064SYNGAP1,SYNGAP1-AS1c.2565C>A (p.Pro855=)
c.2823C>A (p.Pro941=)
c.2781C>A (p.Pro927=)
c.2646C>A (p.Pro882=)
c.2778C>A (p.Pro926=)
n.329+3231G>T
6g.33443375C>GCA450104065SYNGAP1,SYNGAP1-AS1c.2565C>G (p.Pro855=)
c.2823C>G (p.Pro941=)
c.2781C>G (p.Pro927=)
c.2646C>G (p.Pro882=)
c.2778C>G (p.Pro926=)
n.329+3231G>C
6g.33443375C>TCA450104066SYNGAP1,SYNGAP1-AS1c.2565C>T (p.Pro855=)
c.2823C>T (p.Pro941=)
c.2781C>T (p.Pro927=)
c.2646C>T (p.Pro882=)
c.2778C>T (p.Pro926=)
n.329+3231G>A
 ClinVar
6g.33443376C>ACA363628721SYNGAP1,SYNGAP1-AS1c.2566C>A (p.Pro856Thr)
c.2824C>A (p.Pro942Thr)
c.2782C>A (p.Pro928Thr)
c.2647C>A (p.Pro883Thr)
c.2779C>A (p.Pro927Thr)
n.329+3230G>T
6g.33443376C=CA1620014606SYNGAP1,SYNGAP1-AS1c.2566C= (p.Pro856=)
c.2824C= (p.Pro942=)
c.2782C= (p.Pro928=)
c.2647C= (p.Pro883=)
c.2779C= (p.Pro927=)
n.329+3230G=
6g.33443376C>GCA363628724SYNGAP1,SYNGAP1-AS1c.2566C>G (p.Pro856Ala)
c.2824C>G (p.Pro942Ala)
c.2782C>G (p.Pro928Ala)
c.2647C>G (p.Pro883Ala)
c.2779C>G (p.Pro927Ala)
n.329+3230G>C
6g.33443376C>TCA363628726SYNGAP1,SYNGAP1-AS1c.2566C>T (p.Pro856Ser)
c.2824C>T (p.Pro942Ser)
c.2782C>T (p.Pro928Ser)
c.2647C>T (p.Pro883Ser)
c.2779C>T (p.Pro927Ser)
n.329+3230G>A
 dbSNP gnomAD v4
6g.33443377C>ACA363628731SYNGAP1,SYNGAP1-AS1c.2567C>A (p.Pro856Gln)
c.2825C>A (p.Pro942Gln)
c.2783C>A (p.Pro928Gln)
c.2648C>A (p.Pro883Gln)
c.2780C>A (p.Pro927Gln)
n.329+3229G>T
6g.33443377C>GCA363628733SYNGAP1,SYNGAP1-AS1c.2567C>G (p.Pro856Arg)
c.2825C>G (p.Pro942Arg)
c.2783C>G (p.Pro928Arg)
c.2648C>G (p.Pro883Arg)
c.2780C>G (p.Pro927Arg)
n.329+3229G>C
6g.33443377C>TCA363628734SYNGAP1,SYNGAP1-AS1c.2567C>T (p.Pro856Leu)
c.2825C>T (p.Pro942Leu)
c.2783C>T (p.Pro928Leu)
c.2648C>T (p.Pro883Leu)
c.2780C>T (p.Pro927Leu)
n.329+3229G>A
 ClinVar gnomAD v4
6g.33443378A>CCA450104067SYNGAP1,SYNGAP1-AS1c.2568A>C (p.Pro856=)
c.2826A>C (p.Pro942=)
c.2784A>C (p.Pro928=)
c.2649A>C (p.Pro883=)
c.2781A>C (p.Pro927=)
n.329+3228T>G
6g.33443378A>GCA450104068SYNGAP1,SYNGAP1-AS1c.2568A>G (p.Pro856=)
c.2826A>G (p.Pro942=)
c.2784A>G (p.Pro928=)
c.2649A>G (p.Pro883=)
c.2781A>G (p.Pro927=)
n.329+3228T>C
6g.33443378A>TCA450104069SYNGAP1,SYNGAP1-AS1c.2568A>T (p.Pro856=)
c.2826A>T (p.Pro942=)
c.2784A>T (p.Pro928=)
c.2649A>T (p.Pro883=)
c.2781A>T (p.Pro927=)
n.329+3228T>A
6g.33443379G>ACA363628738SYNGAP1,SYNGAP1-AS1c.2569G>A (p.Gly857Ser)
c.2827G>A (p.Gly943Ser)
c.2785G>A (p.Gly929Ser)
c.2650G>A (p.Gly884Ser)
c.2782G>A (p.Gly928Ser)
n.329+3227C>T
6g.33443379G>CCA363628739SYNGAP1,SYNGAP1-AS1c.2569G>C (p.Gly857Arg)
c.2827G>C (p.Gly943Arg)
c.2785G>C (p.Gly929Arg)
c.2650G>C (p.Gly884Arg)
c.2782G>C (p.Gly928Arg)
n.329+3227C>G
 gnomAD v4
6g.33443379G>TCA363628745SYNGAP1,SYNGAP1-AS1c.2569G>T (p.Gly857Cys)
c.2827G>T (p.Gly943Cys)
c.2785G>T (p.Gly929Cys)
c.2650G>T (p.Gly884Cys)
c.2782G>T (p.Gly928Cys)
n.329+3227C>A
6g.33443381_33443398delCA2578585564SYNGAP1,SYNGAP1-AS1c.2571_2588del (p.Gly858_Gly863del)
c.2829_2846del (p.Gly944_Gly949del)
c.2787_2804del (p.Gly930_Gly935del)
c.2652_2669del (p.Gly885_Gly890del)
c.2784_2801del (p.Gly929_Gly934del)
n.329+3210_329+3227del
 gnomAD v4
6g.33443380G>ACA363628750SYNGAP1,SYNGAP1-AS1c.2570G>A (p.Gly857Asp)
c.2828G>A (p.Gly943Asp)
c.2786G>A (p.Gly929Asp)
c.2651G>A (p.Gly884Asp)
c.2783G>A (p.Gly928Asp)
n.329+3226C>T
6g.33443380G>CCA363628752SYNGAP1,SYNGAP1-AS1c.2570G>C (p.Gly857Ala)
c.2828G>C (p.Gly943Ala)
c.2786G>C (p.Gly929Ala)
c.2651G>C (p.Gly884Ala)
c.2783G>C (p.Gly928Ala)
n.329+3226C>G
 dbSNP gnomAD v2 gnomAD v4
6g.33443380G=CA1620014607SYNGAP1,SYNGAP1-AS1c.2570G= (p.Gly857=)
c.2828G= (p.Gly943=)
c.2786G= (p.Gly929=)
c.2651G= (p.Gly884=)
c.2783G= (p.Gly928=)
n.329+3226C=
6g.33443380G>TCA363628748SYNGAP1,SYNGAP1-AS1c.2570G>T (p.Gly857Val)
c.2828G>T (p.Gly943Val)
c.2786G>T (p.Gly929Val)
c.2651G>T (p.Gly884Val)
c.2783G>T (p.Gly928Val)
n.329+3226C>A
6g.33443381C>ACA450104070SYNGAP1,SYNGAP1-AS1c.2571C>A (p.Gly857=)
c.2829C>A (p.Gly943=)
c.2787C>A (p.Gly929=)
c.2652C>A (p.Gly884=)
c.2784C>A (p.Gly928=)
n.329+3225G>T
 gnomAD v4
6g.33443381C=CA1620014608SYNGAP1,SYNGAP1-AS1c.2571C= (p.Gly857=)
c.2829C= (p.Gly943=)
c.2787C= (p.Gly929=)
c.2652C= (p.Gly884=)
c.2784C= (p.Gly928=)
n.329+3225G=
6g.33443381C>GCA450104072SYNGAP1,SYNGAP1-AS1c.2571C>G (p.Gly857=)
c.2829C>G (p.Gly943=)
c.2787C>G (p.Gly929=)
c.2652C>G (p.Gly884=)
c.2784C>G (p.Gly928=)
n.329+3225G>C
6g.33443381C>TCA450104071SYNGAP1,SYNGAP1-AS1c.2571C>T (p.Gly857=)
c.2829C>T (p.Gly943=)
c.2787C>T (p.Gly929=)
c.2652C>T (p.Gly884=)
c.2784C>T (p.Gly928=)
n.329+3225G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
6g.33443382G>ACA3758950SYNGAP1,SYNGAP1-AS1c.2572G>A (p.Gly858Ser)
c.2830G>A (p.Gly944Ser)
c.2788G>A (p.Gly930Ser)
c.2653G>A (p.Gly885Ser)
c.2785G>A (p.Gly929Ser)
n.329+3224C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.33443382G>CCA363628758SYNGAP1,SYNGAP1-AS1c.2572G>C (p.Gly858Arg)
c.2830G>C (p.Gly944Arg)
c.2788G>C (p.Gly930Arg)
c.2653G>C (p.Gly885Arg)
c.2785G>C (p.Gly929Arg)
n.329+3224C>G
6g.33443382G=CA1620014609SYNGAP1,SYNGAP1-AS1c.2572G= (p.Gly858=)
c.2830G= (p.Gly944=)
c.2788G= (p.Gly930=)
c.2653G= (p.Gly885=)
c.2785G= (p.Gly929=)
n.329+3224C=
6g.33443382G>TCA363628760SYNGAP1,SYNGAP1-AS1c.2572G>T (p.Gly858Cys)
c.2830G>T (p.Gly944Cys)
c.2788G>T (p.Gly930Cys)
c.2653G>T (p.Gly885Cys)
c.2785G>T (p.Gly929Cys)
n.329+3224C>A
 dbSNP gnomAD v3 gnomAD v4
6g.33443390_33443407delCA2678276175SYNGAP1,SYNGAP1-AS1c.2580_2597del (p.Gly861_Gly866del)
c.2838_2855del (p.Gly947_Gly952del)
c.2796_2813del (p.Gly933_Gly938del)
c.2661_2678del (p.Gly888_Gly893del)
c.2793_2810del (p.Gly932_Gly937del)
n.329+3207_329+3224del
 gnomAD v4
6g.33443383G>ACA363628763SYNGAP1,SYNGAP1-AS1c.2573G>A (p.Gly858Asp)
c.2831G>A (p.Gly944Asp)
c.2789G>A (p.Gly930Asp)
c.2654G>A (p.Gly885Asp)
c.2786G>A (p.Gly929Asp)
n.329+3223C>T
6g.33443383G>CCA363628767SYNGAP1,SYNGAP1-AS1c.2573G>C (p.Gly858Ala)
c.2831G>C (p.Gly944Ala)
c.2789G>C (p.Gly930Ala)
c.2654G>C (p.Gly885Ala)
c.2786G>C (p.Gly929Ala)
n.329+3223C>G
6g.33443383G>TCA363628769SYNGAP1,SYNGAP1-AS1c.2573G>T (p.Gly858Val)
c.2831G>T (p.Gly944Val)
c.2789G>T (p.Gly930Val)
c.2654G>T (p.Gly885Val)
c.2786G>T (p.Gly929Val)
n.329+3223C>A
 gnomAD v4
6g.33443384C>ACA450104073SYNGAP1,SYNGAP1-AS1c.2574C>A (p.Gly858=)
c.2832C>A (p.Gly944=)
c.2790C>A (p.Gly930=)
c.2655C>A (p.Gly885=)
c.2787C>A (p.Gly929=)
n.329+3222G>T
6g.33443384C>GCA450104074SYNGAP1,SYNGAP1-AS1c.2574C>G (p.Gly858=)
c.2832C>G (p.Gly944=)
c.2790C>G (p.Gly930=)
c.2655C>G (p.Gly885=)
c.2787C>G (p.Gly929=)
n.329+3222G>C
6g.33443384C>TCA450104075SYNGAP1,SYNGAP1-AS1c.2574C>T (p.Gly858=)
c.2832C>T (p.Gly944=)
c.2790C>T (p.Gly930=)
c.2655C>T (p.Gly885=)
c.2787C>T (p.Gly929=)
n.329+3222G>A
6g.33443385C>ACA363628772SYNGAP1,SYNGAP1-AS1c.2575C>A (p.His859Asn)
c.2833C>A (p.His945Asn)
c.2791C>A (p.His931Asn)
c.2656C>A (p.His886Asn)
c.2788C>A (p.His930Asn)
n.329+3221G>T
6g.33443385C>GCA363628775SYNGAP1,SYNGAP1-AS1c.2575C>G (p.His859Asp)
c.2833C>G (p.His945Asp)
c.2791C>G (p.His931Asp)
c.2656C>G (p.His886Asp)
c.2788C>G (p.His930Asp)
n.329+3221G>C
6g.33443385C>TCA363628777SYNGAP1,SYNGAP1-AS1c.2575C>T (p.His859Tyr)
c.2833C>T (p.His945Tyr)
c.2791C>T (p.His931Tyr)
c.2656C>T (p.His886Tyr)
c.2788C>T (p.His930Tyr)
n.329+3221G>A
6g.33443386A=CA1620014610SYNGAP1,SYNGAP1-AS1c.2576A= (p.His859=)
c.2834A= (p.His945=)
c.2792A= (p.His931=)
c.2657A= (p.His886=)
c.2789A= (p.His930=)
n.329+3220T=
6g.33443386A>CCA363628779SYNGAP1,SYNGAP1-AS1c.2576A>C (p.His859Pro)
c.2834A>C (p.His945Pro)
c.2792A>C (p.His931Pro)
c.2657A>C (p.His886Pro)
c.2789A>C (p.His930Pro)
n.329+3220T>G
6g.33443386A>GCA363628783SYNGAP1,SYNGAP1-AS1c.2576A>G (p.His859Arg)
c.2834A>G (p.His945Arg)
c.2792A>G (p.His931Arg)
c.2657A>G (p.His886Arg)
c.2789A>G (p.His930Arg)
n.329+3220T>C
 gnomAD v4
6g.33443386A>TCA363628784SYNGAP1,SYNGAP1-AS1c.2576A>T (p.His859Leu)
c.2834A>T (p.His945Leu)
c.2792A>T (p.His931Leu)
c.2657A>T (p.His886Leu)
c.2789A>T (p.His930Leu)
n.329+3220T>A
 dbSNP gnomAD v2 gnomAD v4
6g.33443387T>ACA363628788SYNGAP1,SYNGAP1-AS1c.2577T>A (p.His859Gln)
c.2835T>A (p.His945Gln)
c.2793T>A (p.His931Gln)
c.2658T>A (p.His886Gln)
c.2790T>A (p.His930Gln)
n.329+3219A>T
 ClinVar gnomAD v4
6g.33443387T>CCA450104076SYNGAP1,SYNGAP1-AS1c.2577T>C (p.His859=)
c.2835T>C (p.His945=)
c.2793T>C (p.His931=)
c.2658T>C (p.His886=)
c.2790T>C (p.His930=)
n.329+3219A>G
 dbSNP gnomAD v4
6g.33443387T>GCA363628789SYNGAP1,SYNGAP1-AS1c.2577T>G (p.His859Gln)
c.2835T>G (p.His945Gln)
c.2793T>G (p.His931Gln)
c.2658T>G (p.His886Gln)
c.2790T>G (p.His930Gln)
n.329+3219A>C
6g.33443387T=CA1620014611SYNGAP1,SYNGAP1-AS1c.2577T= (p.His859=)
c.2835T= (p.His945=)
c.2793T= (p.His931=)
c.2658T= (p.His886=)
c.2790T= (p.His930=)
n.329+3219A=
6g.33443388G>ACA363628808SYNGAP1,SYNGAP1-AS1c.2578G>A (p.Gly860Arg)
c.2836G>A (p.Gly946Arg)
c.2794G>A (p.Gly932Arg)
c.2659G>A (p.Gly887Arg)
c.2791G>A (p.Gly931Arg)
n.329+3218C>T
6g.33443388G>CCA363628807SYNGAP1,SYNGAP1-AS1c.2578G>C (p.Gly860Arg)
c.2836G>C (p.Gly946Arg)
c.2794G>C (p.Gly932Arg)
c.2659G>C (p.Gly887Arg)
c.2791G>C (p.Gly931Arg)
n.329+3218C>G
6g.33443388G>TCA363628795SYNGAP1,SYNGAP1-AS1c.2578G>T (p.Gly860Ter)
c.2836G>T (p.Gly946Ter)
c.2794G>T (p.Gly932Ter)
c.2659G>T (p.Gly887Ter)
c.2791G>T (p.Gly931Ter)
n.329+3218C>A
6g.33443389G>ACA3758951SYNGAP1,SYNGAP1-AS1c.2579G>A (p.Gly860Glu)
c.2837G>A (p.Gly946Glu)
c.2795G>A (p.Gly932Glu)
c.2660G>A (p.Gly887Glu)
c.2792G>A (p.Gly931Glu)
n.329+3217C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.33443389G>CCA363628814SYNGAP1,SYNGAP1-AS1c.2579G>C (p.Gly860Ala)
c.2837G>C (p.Gly946Ala)
c.2795G>C (p.Gly932Ala)
c.2660G>C (p.Gly887Ala)
c.2792G>C (p.Gly931Ala)
n.329+3217C>G
 COSMIC COSMIC
6g.33443389G=CA1620014612SYNGAP1,SYNGAP1-AS1c.2579G= (p.Gly860=)
c.2837G= (p.Gly946=)
c.2795G= (p.Gly932=)
c.2660G= (p.Gly887=)
c.2792G= (p.Gly931=)
n.329+3217C=
6g.33443389G>TCA363628815SYNGAP1,SYNGAP1-AS1c.2579G>T (p.Gly860Val)
c.2837G>T (p.Gly946Val)
c.2795G>T (p.Gly932Val)
c.2660G>T (p.Gly887Val)
c.2792G>T (p.Gly931Val)
n.329+3217C>A
6g.33443390A=CA1620014613SYNGAP1,SYNGAP1-AS1c.2580A= (p.Gly860=)
c.2838A= (p.Gly946=)
c.2796A= (p.Gly932=)
c.2661A= (p.Gly887=)
c.2793A= (p.Gly931=)
n.329+3216T=
6g.33443390A>CCA450104077SYNGAP1,SYNGAP1-AS1c.2580A>C (p.Gly860=)
c.2838A>C (p.Gly946=)
c.2796A>C (p.Gly932=)
c.2661A>C (p.Gly887=)
c.2793A>C (p.Gly931=)
n.329+3216T>G
6g.33443390A>GCA450104078SYNGAP1,SYNGAP1-AS1c.2580A>G (p.Gly860=)
c.2838A>G (p.Gly946=)
c.2796A>G (p.Gly932=)
c.2661A>G (p.Gly887=)
c.2793A>G (p.Gly931=)
n.329+3216T>C
 dbSNP
6g.33443390A>TCA450104079SYNGAP1,SYNGAP1-AS1c.2580A>T (p.Gly860=)
c.2838A>T (p.Gly946=)
c.2796A>T (p.Gly932=)
c.2661A>T (p.Gly887=)
c.2793A>T (p.Gly931=)
n.329+3216T>A
6g.33443391G>ACA363628816SYNGAP1,SYNGAP1-AS1c.2581G>A (p.Gly861Arg)
c.2839G>A (p.Gly947Arg)
c.2797G>A (p.Gly933Arg)
c.2662G>A (p.Gly888Arg)
c.2794G>A (p.Gly932Arg)
n.329+3215C>T
 gnomAD v4
6g.33443391G>CCA363628817SYNGAP1,SYNGAP1-AS1c.2581G>C (p.Gly861Arg)
c.2839G>C (p.Gly947Arg)
c.2797G>C (p.Gly933Arg)
c.2662G>C (p.Gly888Arg)
c.2794G>C (p.Gly932Arg)
n.329+3215C>G
6g.33443391G>TCA363628819SYNGAP1,SYNGAP1-AS1c.2581G>T (p.Gly861Trp)
c.2839G>T (p.Gly947Trp)
c.2797G>T (p.Gly933Trp)
c.2662G>T (p.Gly888Trp)
c.2794G>T (p.Gly932Trp)
n.329+3215C>A
6g.33443392_33443472delCA1087671725SYNGAP1,SYNGAP1-AS1c.2582_2662del (p.Gly861_Gly887del)
c.2840_2920del (p.Gly947_Gly973del)
c.2798_2878del (p.Gly933_Gly959del)
c.2663_2743del (p.Gly888_Gly914del)
c.2795_2875del (p.Gly932_Gly958del)
n.329+3135_329+3215del
 gnomAD v3 gnomAD v4
6g.33443392G>ACA363628823SYNGAP1,SYNGAP1-AS1c.2582G>A (p.Gly861Glu)
c.2840G>A (p.Gly947Glu)
c.2798G>A (p.Gly933Glu)
c.2663G>A (p.Gly888Glu)
c.2795G>A (p.Gly932Glu)
n.329+3214C>T
 gnomAD v4
6g.33443392G>CCA3758952SYNGAP1,SYNGAP1-AS1c.2582G>C (p.Gly861Ala)
c.2840G>C (p.Gly947Ala)
c.2798G>C (p.Gly933Ala)
c.2663G>C (p.Gly888Ala)
c.2795G>C (p.Gly932Ala)
n.329+3214C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.33443392G=CA1620014614SYNGAP1,SYNGAP1-AS1c.2582G= (p.Gly861=)
c.2840G= (p.Gly947=)
c.2798G= (p.Gly933=)
c.2663G= (p.Gly888=)
c.2795G= (p.Gly932=)
n.329+3214C=
6g.33443392G>TCA363628831SYNGAP1,SYNGAP1-AS1c.2582G>T (p.Gly861Val)
c.2840G>T (p.Gly947Val)
c.2798G>T (p.Gly933Val)
c.2663G>T (p.Gly888Val)
c.2795G>T (p.Gly932Val)
n.329+3214C>A
6g.33443393G>ACA450104080SYNGAP1,SYNGAP1-AS1c.2583G>A (p.Gly861=)
c.2841G>A (p.Gly947=)
c.2799G>A (p.Gly933=)
c.2664G>A (p.Gly888=)
c.2796G>A (p.Gly932=)
n.329+3213C>T
6g.33443393G>CCA450104081SYNGAP1,SYNGAP1-AS1c.2583G>C (p.Gly861=)
c.2841G>C (p.Gly947=)
c.2799G>C (p.Gly933=)
c.2664G>C (p.Gly888=)
c.2796G>C (p.Gly932=)
n.329+3213C>G
6g.33443393G>TCA450104082SYNGAP1,SYNGAP1-AS1c.2583G>T (p.Gly861=)
c.2841G>T (p.Gly947=)
c.2799G>T (p.Gly933=)
c.2664G>T (p.Gly888=)
c.2796G>T (p.Gly932=)
n.329+3213C>A
6g.33443394G>ACA363628835SYNGAP1,SYNGAP1-AS1c.2584G>A (p.Gly862Ser)
c.2842G>A (p.Gly948Ser)
c.2800G>A (p.Gly934Ser)
c.2665G>A (p.Gly889Ser)
c.2797G>A (p.Gly933Ser)
n.329+3212C>T
6g.33443394G>CCA363628838SYNGAP1,SYNGAP1-AS1c.2584G>C (p.Gly862Arg)
c.2842G>C (p.Gly948Arg)
c.2800G>C (p.Gly934Arg)
c.2665G>C (p.Gly889Arg)
c.2797G>C (p.Gly933Arg)
n.329+3212C>G
6g.33443394G>TCA363628851SYNGAP1,SYNGAP1-AS1c.2584G>T (p.Gly862Cys)
c.2842G>T (p.Gly948Cys)
c.2800G>T (p.Gly934Cys)
c.2665G>T (p.Gly889Cys)
c.2797G>T (p.Gly933Cys)
n.329+3212C>A
6g.33443395G>ACA363628858SYNGAP1,SYNGAP1-AS1c.2585G>A (p.Gly862Asp)
c.2843G>A (p.Gly948Asp)
c.2801G>A (p.Gly934Asp)
c.2666G>A (p.Gly889Asp)
c.2798G>A (p.Gly933Asp)
n.329+3211C>T
6g.33443395G>CCA363628857SYNGAP1,SYNGAP1-AS1c.2585G>C (p.Gly862Ala)
c.2843G>C (p.Gly948Ala)
c.2801G>C (p.Gly934Ala)
c.2666G>C (p.Gly889Ala)
c.2798G>C (p.Gly933Ala)
n.329+3211C>G
6g.33443395G>TCA363628855SYNGAP1,SYNGAP1-AS1c.2585G>T (p.Gly862Val)
c.2843G>T (p.Gly948Val)
c.2801G>T (p.Gly934Val)
c.2666G>T (p.Gly889Val)
c.2798G>T (p.Gly933Val)
n.329+3211C>A
6g.33443395_33443396insGGTGCA2739289865SYNGAP1,SYNGAP1-AS1c.2585_2586insGGTG (p.Gly863ValfsTer?)
c.2843_2844insGGTG (p.Gly949ValfsTer?)
c.2801_2802insGGTG (p.Gly935ValfsTer?)
c.2666_2667insGGTG (p.Gly890ValfsTer?)
c.2798_2799insGGTG (p.Gly934ValfsTer?)
n.329+3211_329+3212insACCC
6g.33443396C>ACA450104083SYNGAP1,SYNGAP1-AS1c.2586C>A (p.Gly862=)
c.2844C>A (p.Gly948=)
c.2802C>A (p.Gly934=)
c.2667C>A (p.Gly889=)
c.2799C>A (p.Gly933=)
n.329+3210G>T
 gnomAD v4
6g.33443396C=CA1620014615SYNGAP1,SYNGAP1-AS1c.2586C= (p.Gly862=)
c.2844C= (p.Gly948=)
c.2802C= (p.Gly934=)
c.2667C= (p.Gly889=)
c.2799C= (p.Gly933=)
n.329+3210G=
6g.33443396C>GCA450104084SYNGAP1,SYNGAP1-AS1c.2586C>G (p.Gly862=)
c.2844C>G (p.Gly948=)
c.2802C>G (p.Gly934=)
c.2667C>G (p.Gly889=)
c.2799C>G (p.Gly933=)
n.329+3210G>C
 dbSNP
6g.33443396C>TCA137073083SYNGAP1,SYNGAP1-AS1c.2586C>T (p.Gly862=)
c.2844C>T (p.Gly948=)
c.2802C>T (p.Gly934=)
c.2667C>T (p.Gly889=)
c.2799C>T (p.Gly933=)
n.329+3210G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
6g.33443397G>ACA209018SYNGAP1,SYNGAP1-AS1c.2587G>A (p.Gly863Ser)
c.2845G>A (p.Gly949Ser)
c.2803G>A (p.Gly935Ser)
c.2668G>A (p.Gly890Ser)
c.2800G>A (p.Gly934Ser)
n.329+3209C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.33443397G>CCA363628859SYNGAP1,SYNGAP1-AS1c.2587G>C (p.Gly863Arg)
c.2845G>C (p.Gly949Arg)
c.2803G>C (p.Gly935Arg)
c.2668G>C (p.Gly890Arg)
c.2800G>C (p.Gly934Arg)
n.329+3209C>G
6g.33443397G=CA1620014616SYNGAP1,SYNGAP1-AS1c.2587G= (p.Gly863=)
c.2845G= (p.Gly949=)
c.2803G= (p.Gly935=)
c.2668G= (p.Gly890=)
c.2800G= (p.Gly934=)
n.329+3209C=
6g.33443397G>TCA363628862SYNGAP1,SYNGAP1-AS1c.2587G>T (p.Gly863Cys)
c.2845G>T (p.Gly949Cys)
c.2803G>T (p.Gly935Cys)
c.2668G>T (p.Gly890Cys)
c.2800G>T (p.Gly934Cys)
n.329+3209C>A
6g.33443398G>ACA363628864SYNGAP1,SYNGAP1-AS1c.2588G>A (p.Gly863Asp)
c.2846G>A (p.Gly949Asp)
c.2804G>A (p.Gly935Asp)
c.2669G>A (p.Gly890Asp)
c.2801G>A (p.Gly934Asp)
n.329+3208C>T
6g.33443398G>CCA363628868SYNGAP1,SYNGAP1-AS1c.2588G>C (p.Gly863Ala)
c.2846G>C (p.Gly949Ala)
c.2804G>C (p.Gly935Ala)
c.2669G>C (p.Gly890Ala)
c.2801G>C (p.Gly934Ala)
n.329+3208C>G
6g.33443398G>TCA363628869SYNGAP1,SYNGAP1-AS1c.2588G>T (p.Gly863Val)
c.2846G>T (p.Gly949Val)
c.2804G>T (p.Gly935Val)
c.2669G>T (p.Gly890Val)
c.2801G>T (p.Gly934Val)
n.329+3208C>A
6g.33443399T>ACA450104085SYNGAP1,SYNGAP1-AS1c.2589T>A (p.Gly863=)
c.2847T>A (p.Gly949=)
c.2805T>A (p.Gly935=)
c.2670T>A (p.Gly890=)
c.2802T>A (p.Gly934=)
n.329+3207A>T
6g.33443399T>CCA450104086SYNGAP1,SYNGAP1-AS1c.2589T>C (p.Gly863=)
c.2847T>C (p.Gly949=)
c.2805T>C (p.Gly935=)
c.2670T>C (p.Gly890=)
c.2802T>C (p.Gly934=)
n.329+3207A>G
6g.33443399T>GCA450104087SYNGAP1,SYNGAP1-AS1c.2589T>G (p.Gly863=)
c.2847T>G (p.Gly949=)
c.2805T>G (p.Gly935=)
c.2670T>G (p.Gly890=)
c.2802T>G (p.Gly934=)
n.329+3207A>C
 dbSNP
6g.33443404_33443409delCA2678276194SYNGAP1,SYNGAP1-AS1c.2594_2599del (p.His865_Gly866del)
c.2852_2857del (p.His951_Gly952del)
c.2810_2815del (p.His937_Gly938del)
c.2675_2680del (p.His892_Gly893del)
c.2807_2812del (p.His936_Gly937del)
n.329+3202_329+3207del
 ClinVar gnomAD v4
6g.33443400G>ACA363628874SYNGAP1,SYNGAP1-AS1c.2590G>A (p.Gly864Ser)
c.2848G>A (p.Gly950Ser)
c.2806G>A (p.Gly936Ser)
c.2671G>A (p.Gly891Ser)
c.2803G>A (p.Gly935Ser)
n.329+3206C>T
6g.33443400G>CCA363628877SYNGAP1,SYNGAP1-AS1c.2590G>C (p.Gly864Arg)
c.2848G>C (p.Gly950Arg)
c.2806G>C (p.Gly936Arg)
c.2671G>C (p.Gly891Arg)
c.2803G>C (p.Gly935Arg)
n.329+3206C>G
6g.33443400G>TCA363628880SYNGAP1,SYNGAP1-AS1c.2590G>T (p.Gly864Cys)
c.2848G>T (p.Gly950Cys)
c.2806G>T (p.Gly936Cys)
c.2671G>T (p.Gly891Cys)
c.2803G>T (p.Gly935Cys)
n.329+3206C>A
6g.33443401G>ACA363628884SYNGAP1,SYNGAP1-AS1c.2591G>A (p.Gly864Asp)
c.2849G>A (p.Gly950Asp)
c.2807G>A (p.Gly936Asp)
c.2672G>A (p.Gly891Asp)
c.2804G>A (p.Gly935Asp)
n.329+3205C>T
6g.33443401G>CCA363628888SYNGAP1,SYNGAP1-AS1c.2591G>C (p.Gly864Ala)
c.2849G>C (p.Gly950Ala)
c.2807G>C (p.Gly936Ala)
c.2672G>C (p.Gly891Ala)
c.2804G>C (p.Gly935Ala)
n.329+3205C>G
6g.33443401G>TCA363628892SYNGAP1,SYNGAP1-AS1c.2591G>T (p.Gly864Val)
c.2849G>T (p.Gly950Val)
c.2807G>T (p.Gly936Val)
c.2672G>T (p.Gly891Val)
c.2804G>T (p.Gly935Val)
n.329+3205C>A
6g.33443402C>ACA450104090SYNGAP1,SYNGAP1-AS1c.2592C>A (p.Gly864=)
c.2850C>A (p.Gly950=)
c.2808C>A (p.Gly936=)
c.2673C>A (p.Gly891=)
c.2805C>A (p.Gly935=)
n.329+3204G>T
6g.33443402C>GCA450104089SYNGAP1,SYNGAP1-AS1c.2592C>G (p.Gly864=)
c.2850C>G (p.Gly950=)
c.2808C>G (p.Gly936=)
c.2673C>G (p.Gly891=)
c.2805C>G (p.Gly935=)
n.329+3204G>C
6g.33443402C>TCA450104088SYNGAP1,SYNGAP1-AS1c.2592C>T (p.Gly864=)
c.2850C>T (p.Gly950=)
c.2808C>T (p.Gly936=)
c.2673C>T (p.Gly891=)
c.2805C>T (p.Gly935=)
n.329+3204G>A
6g.33443403delCA2770567190SYNGAP1,SYNGAP1-AS1c.2593del (p.His865MetfsTer?)
c.2851del (p.His951MetfsTer?)
c.2809del (p.His937MetfsTer?)
c.2674del (p.His892MetfsTer?)
c.2806del (p.His936MetfsTer?)
n.329+3204del
6g.33443403C>ACA363628900SYNGAP1,SYNGAP1-AS1c.2593C>A (p.His865Asn)
c.2851C>A (p.His951Asn)
c.2809C>A (p.His937Asn)
c.2674C>A (p.His892Asn)
c.2806C>A (p.His936Asn)
n.329+3203G>T
6g.33443403C>GCA363628894SYNGAP1,SYNGAP1-AS1c.2593C>G (p.His865Asp)
c.2851C>G (p.His951Asp)
c.2809C>G (p.His937Asp)
c.2674C>G (p.His892Asp)
c.2806C>G (p.His936Asp)
n.329+3203G>C
6g.33443403C>TCA363628898SYNGAP1,SYNGAP1-AS1c.2593C>T (p.His865Tyr)
c.2851C>T (p.His951Tyr)
c.2809C>T (p.His937Tyr)
c.2674C>T (p.His892Tyr)
c.2806C>T (p.His936Tyr)
n.329+3203G>A
6g.33443404A=CA1620014617SYNGAP1,SYNGAP1-AS1c.2594A= (p.His865=)
c.2852A= (p.His951=)
c.2810A= (p.His937=)
c.2675A= (p.His892=)
c.2807A= (p.His936=)
n.329+3202T=
6g.33443404A>CCA363628904SYNGAP1,SYNGAP1-AS1c.2594A>C (p.His865Pro)
c.2852A>C (p.His951Pro)
c.2810A>C (p.His937Pro)
c.2675A>C (p.His892Pro)
c.2807A>C (p.His936Pro)
n.329+3202T>G
6g.33443404A>GCA363628908SYNGAP1,SYNGAP1-AS1c.2594A>G (p.His865Arg)
c.2852A>G (p.His951Arg)
c.2810A>G (p.His937Arg)
c.2675A>G (p.His892Arg)
c.2807A>G (p.His936Arg)
n.329+3202T>C
 ClinVar dbSNP
6g.33443404A>TCA363628911SYNGAP1,SYNGAP1-AS1c.2594A>T (p.His865Leu)
c.2852A>T (p.His951Leu)
c.2810A>T (p.His937Leu)
c.2675A>T (p.His892Leu)
c.2807A>T (p.His936Leu)
n.329+3202T>A
6g.33443405T>ACA363628916SYNGAP1,SYNGAP1-AS1c.2595T>A (p.His865Gln)
c.2853T>A (p.His951Gln)
c.2811T>A (p.His937Gln)
c.2676T>A (p.His892Gln)
c.2808T>A (p.His936Gln)
n.329+3201A>T
6g.33443405T>CCA450104091SYNGAP1,SYNGAP1-AS1c.2595T>C (p.His865=)
c.2853T>C (p.His951=)
c.2811T>C (p.His937=)
c.2676T>C (p.His892=)
c.2808T>C (p.His936=)
n.329+3201A>G
 dbSNP gnomAD v3 gnomAD v4
6g.33443405T>GCA363628924SYNGAP1,SYNGAP1-AS1c.2595T>G (p.His865Gln)
c.2853T>G (p.His951Gln)
c.2811T>G (p.His937Gln)
c.2676T>G (p.His892Gln)
c.2808T>G (p.His936Gln)
n.329+3201A>C
6g.33443405T=CA1620014618SYNGAP1,SYNGAP1-AS1c.2595T= (p.His865=)
c.2853T= (p.His951=)
c.2811T= (p.His937=)
c.2676T= (p.His892=)
c.2808T= (p.His936=)
n.329+3201A=
6g.33443406G>ACA137073102SYNGAP1,SYNGAP1-AS1c.2596G>A (p.Gly866Ser)
c.2854G>A (p.Gly952Ser)
c.2812G>A (p.Gly938Ser)
c.2677G>A (p.Gly893Ser)
c.2809G>A (p.Gly937Ser)
n.329+3200C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
6g.33443406G>CCA363628930SYNGAP1,SYNGAP1-AS1c.2596G>C (p.Gly866Arg)
c.2854G>C (p.Gly952Arg)
c.2812G>C (p.Gly938Arg)
c.2677G>C (p.Gly893Arg)
c.2809G>C (p.Gly937Arg)
n.329+3200C>G
6g.33443406G=CA1620014619SYNGAP1,SYNGAP1-AS1c.2596G= (p.Gly866=)
c.2854G= (p.Gly952=)
c.2812G= (p.Gly938=)
c.2677G= (p.Gly893=)
c.2809G= (p.Gly937=)
n.329+3200C=
6g.33443406G>TCA363628932SYNGAP1,SYNGAP1-AS1c.2596G>T (p.Gly866Cys)
c.2854G>T (p.Gly952Cys)
c.2812G>T (p.Gly938Cys)
c.2677G>T (p.Gly893Cys)
c.2809G>T (p.Gly937Cys)
n.329+3200C>A
6g.33443407G>ACA363628938SYNGAP1,SYNGAP1-AS1c.2597G>A (p.Gly866Asp)
c.2855G>A (p.Gly952Asp)
c.2813G>A (p.Gly938Asp)
c.2678G>A (p.Gly893Asp)
c.2810G>A (p.Gly937Asp)
n.329+3199C>T
6g.33443407G>CCA363628942SYNGAP1,SYNGAP1-AS1c.2597G>C (p.Gly866Ala)
c.2855G>C (p.Gly952Ala)
c.2813G>C (p.Gly938Ala)
c.2678G>C (p.Gly893Ala)
c.2810G>C (p.Gly937Ala)
n.329+3199C>G
6g.33443407G>TCA363628950SYNGAP1,SYNGAP1-AS1c.2597G>T (p.Gly866Val)
c.2855G>T (p.Gly952Val)
c.2813G>T (p.Gly938Val)
c.2678G>T (p.Gly893Val)
c.2810G>T (p.Gly937Val)
n.329+3199C>A
 ClinVar
6g.33443408C>ACA450104092SYNGAP1,SYNGAP1-AS1c.2598C>A (p.Gly866=)
c.2856C>A (p.Gly952=)
c.2814C>A (p.Gly938=)
c.2679C>A (p.Gly893=)
c.2811C>A (p.Gly937=)
n.329+3198G>T
6g.33443408C=CA1620014620SYNGAP1,SYNGAP1-AS1c.2598C= (p.Gly866=)
c.2856C= (p.Gly952=)
c.2814C= (p.Gly938=)
c.2679C= (p.Gly893=)
c.2811C= (p.Gly937=)
n.329+3198G=
6g.33443408C>GCA450104093SYNGAP1,SYNGAP1-AS1c.2598C>G (p.Gly866=)
c.2856C>G (p.Gly952=)
c.2814C>G (p.Gly938=)
c.2679C>G (p.Gly893=)
c.2811C>G (p.Gly937=)
n.329+3198G>C
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.33443408C>TCA3758953SYNGAP1,SYNGAP1-AS1c.2598C>T (p.Gly866=)
c.2856C>T (p.Gly952=)
c.2814C>T (p.Gly938=)
c.2679C>T (p.Gly893=)
c.2811C>T (p.Gly937=)
n.329+3198G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.33443409C>ACA363628957SYNGAP1,SYNGAP1-AS1c.2599C>A (p.Pro867Thr)
c.2857C>A (p.Pro953Thr)
c.2815C>A (p.Pro939Thr)
c.2680C>A (p.Pro894Thr)
c.2812C>A (p.Pro938Thr)
n.329+3197G>T
 dbSNP
6g.33443409C=CA1620014621SYNGAP1,SYNGAP1-AS1c.2599C= (p.Pro867=)
c.2857C= (p.Pro953=)
c.2815C= (p.Pro939=)
c.2680C= (p.Pro894=)
c.2812C= (p.Pro938=)
n.329+3197G=
6g.33443409C>GCA363628959SYNGAP1,SYNGAP1-AS1c.2599C>G (p.Pro867Ala)
c.2857C>G (p.Pro953Ala)
c.2815C>G (p.Pro939Ala)
c.2680C>G (p.Pro894Ala)
c.2812C>G (p.Pro938Ala)
n.329+3197G>C
6g.33443409C>TCA363628955SYNGAP1,SYNGAP1-AS1c.2599C>T (p.Pro867Ser)
c.2857C>T (p.Pro953Ser)
c.2815C>T (p.Pro939Ser)
c.2680C>T (p.Pro894Ser)
c.2812C>T (p.Pro938Ser)
n.329+3197G>A
6g.33443410C>ACA363628961SYNGAP1,SYNGAP1-AS1c.2600C>A (p.Pro867Gln)
c.2858C>A (p.Pro953Gln)
c.2816C>A (p.Pro939Gln)
c.2681C>A (p.Pro894Gln)
c.2813C>A (p.Pro938Gln)
n.329+3196G>T
 ClinVar dbSNP
6g.33443410C>GCA363628962SYNGAP1,SYNGAP1-AS1c.2600C>G (p.Pro867Arg)
c.2858C>G (p.Pro953Arg)
c.2816C>G (p.Pro939Arg)
c.2681C>G (p.Pro894Arg)
c.2813C>G (p.Pro938Arg)
n.329+3196G>C
6g.33443410C>TCA363628964SYNGAP1,SYNGAP1-AS1c.2600C>T (p.Pro867Leu)
c.2858C>T (p.Pro953Leu)
c.2816C>T (p.Pro939Leu)
c.2681C>T (p.Pro894Leu)
c.2813C>T (p.Pro938Leu)
n.329+3196G>A
 gnomAD v4
6g.33443411A>CCA450104094SYNGAP1,SYNGAP1-AS1c.2601A>C (p.Pro867=)
c.2859A>C (p.Pro953=)
c.2817A>C (p.Pro939=)
c.2682A>C (p.Pro894=)
c.2814A>C (p.Pro938=)
n.329+3195T>G
6g.33443411A>GCA450104095SYNGAP1,SYNGAP1-AS1c.2601A>G (p.Pro867=)
c.2859A>G (p.Pro953=)
c.2817A>G (p.Pro939=)
c.2682A>G (p.Pro894=)
c.2814A>G (p.Pro938=)
n.329+3195T>C
6g.33443411A>TCA450104096SYNGAP1,SYNGAP1-AS1c.2601A>T (p.Pro867=)
c.2859A>T (p.Pro953=)
c.2817A>T (p.Pro939=)
c.2682A>T (p.Pro894=)
c.2814A>T (p.Pro938=)
n.329+3195T>A
6g.33443412C>ACA363628969SYNGAP1,SYNGAP1-AS1c.2602C>A (p.Pro868Thr)
c.2860C>A (p.Pro954Thr)
c.2818C>A (p.Pro940Thr)
c.2683C>A (p.Pro895Thr)
c.2815C>A (p.Pro939Thr)
n.329+3194G>T
6g.33443412C=CA1620014622SYNGAP1,SYNGAP1-AS1c.2602C= (p.Pro868=)
c.2860C= (p.Pro954=)
c.2818C= (p.Pro940=)
c.2683C= (p.Pro895=)
c.2815C= (p.Pro939=)
n.329+3194G=
6g.33443412C>GCA363628972SYNGAP1,SYNGAP1-AS1c.2602C>G (p.Pro868Ala)
c.2860C>G (p.Pro954Ala)
c.2818C>G (p.Pro940Ala)
c.2683C>G (p.Pro895Ala)
c.2815C>G (p.Pro939Ala)
n.329+3194G>C
6g.33443412C>TCA363628975SYNGAP1,SYNGAP1-AS1c.2602C>T (p.Pro868Ser)
c.2860C>T (p.Pro954Ser)
c.2818C>T (p.Pro940Ser)
c.2683C>T (p.Pro895Ser)
c.2815C>T (p.Pro939Ser)
n.329+3194G>A
 ClinVar dbSNP gnomAD v4
6g.33443413C>ACA363628990SYNGAP1,SYNGAP1-AS1c.2603C>A (p.Pro868His)
c.2861C>A (p.Pro954His)
c.2819C>A (p.Pro940His)
c.2684C>A (p.Pro895His)
c.2816C>A (p.Pro939His)
n.329+3193G>T
6g.33443413C>GCA363628994SYNGAP1,SYNGAP1-AS1c.2603C>G (p.Pro868Arg)
c.2861C>G (p.Pro954Arg)
c.2819C>G (p.Pro940Arg)
c.2684C>G (p.Pro895Arg)
c.2816C>G (p.Pro939Arg)
n.329+3193G>C
6g.33443413C>TCA363628999SYNGAP1,SYNGAP1-AS1c.2603C>T (p.Pro868Leu)
c.2861C>T (p.Pro954Leu)
c.2819C>T (p.Pro940Leu)
c.2684C>T (p.Pro895Leu)
c.2816C>T (p.Pro939Leu)
n.329+3193G>A
6g.33443414T>ACA450104097SYNGAP1,SYNGAP1-AS1c.2604T>A (p.Pro868=)
c.2862T>A (p.Pro954=)
c.2820T>A (p.Pro940=)
c.2685T>A (p.Pro895=)
c.2817T>A (p.Pro939=)
n.329+3192A>T
6g.33443414T>CCA450104098SYNGAP1,SYNGAP1-AS1c.2604T>C (p.Pro868=)
c.2862T>C (p.Pro954=)
c.2820T>C (p.Pro940=)
c.2685T>C (p.Pro895=)
c.2817T>C (p.Pro939=)
n.329+3192A>G
6g.33443414T>GCA450104099SYNGAP1,SYNGAP1-AS1c.2604T>G (p.Pro868=)
c.2862T>G (p.Pro954=)
c.2820T>G (p.Pro940=)
c.2685T>G (p.Pro895=)
c.2817T>G (p.Pro939=)
n.329+3192A>C
6g.33443415T>ACA363629002SYNGAP1,SYNGAP1-AS1c.2605T>A (p.Ser869Thr)
c.2863T>A (p.Ser955Thr)
c.2821T>A (p.Ser941Thr)
c.2686T>A (p.Ser896Thr)
c.2818T>A (p.Ser940Thr)
n.329+3191A>T
6g.33443415T>CCA3758954SYNGAP1,SYNGAP1-AS1c.2605T>C (p.Ser869Pro)
c.2863T>C (p.Ser955Pro)
c.2821T>C (p.Ser941Pro)
c.2686T>C (p.Ser896Pro)
c.2818T>C (p.Ser940Pro)
n.329+3191A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.33443415T>GCA363629027SYNGAP1,SYNGAP1-AS1c.2605T>G (p.Ser869Ala)
c.2863T>G (p.Ser955Ala)
c.2821T>G (p.Ser941Ala)
c.2686T>G (p.Ser896Ala)
c.2818T>G (p.Ser940Ala)
n.329+3191A>C
6g.33443415T=CA1620014623SYNGAP1,SYNGAP1-AS1c.2605T= (p.Ser869=)
c.2863T= (p.Ser955=)
c.2821T= (p.Ser941=)
c.2686T= (p.Ser896=)
c.2818T= (p.Ser940=)
n.329+3191A=
6g.33443416C>ACA363629031SYNGAP1,SYNGAP1-AS1c.2606C>A (p.Ser869Tyr)
c.2864C>A (p.Ser955Tyr)
c.2822C>A (p.Ser941Tyr)
c.2687C>A (p.Ser896Tyr)
c.2819C>A (p.Ser940Tyr)
n.329+3190G>T
6g.33443416C=CA1620014624SYNGAP1,SYNGAP1-AS1c.2606C= (p.Ser869=)
c.2864C= (p.Ser955=)
c.2822C= (p.Ser941=)
c.2687C= (p.Ser896=)
c.2819C= (p.Ser940=)
n.329+3190G=
6g.33443416C>GCA363629034SYNGAP1,SYNGAP1-AS1c.2606C>G (p.Ser869Cys)
c.2864C>G (p.Ser955Cys)
c.2822C>G (p.Ser941Cys)
c.2687C>G (p.Ser896Cys)
c.2819C>G (p.Ser940Cys)
n.329+3190G>C
6g.33443416C>TCA3758955SYNGAP1,SYNGAP1-AS1c.2606C>T (p.Ser869Phe)
c.2864C>T (p.Ser955Phe)
c.2822C>T (p.Ser941Phe)
c.2687C>T (p.Ser896Phe)
c.2819C>T (p.Ser940Phe)
n.329+3190G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.33443417C>ACA450104100SYNGAP1,SYNGAP1-AS1c.2607C>A (p.Ser869=)
c.2865C>A (p.Ser955=)
c.2823C>A (p.Ser941=)
c.2688C>A (p.Ser896=)
c.2820C>A (p.Ser940=)
n.329+3189G>T
6g.33443417C=CA1620014625SYNGAP1,SYNGAP1-AS1c.2607C= (p.Ser869=)
c.2865C= (p.Ser955=)
c.2823C= (p.Ser941=)
c.2688C= (p.Ser896=)
c.2820C= (p.Ser940=)
n.329+3189G=
6g.33443417C>GCA3758956SYNGAP1,SYNGAP1-AS1c.2607C>G (p.Ser869=)
c.2865C>G (p.Ser955=)
c.2823C>G (p.Ser941=)
c.2688C>G (p.Ser896=)
c.2820C>G (p.Ser940=)
n.329+3189G>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.33443417C>TCA450104101SYNGAP1,SYNGAP1-AS1c.2607C>T (p.Ser869=)
c.2865C>T (p.Ser955=)
c.2823C>T (p.Ser941=)
c.2688C>T (p.Ser896=)
c.2820C>T (p.Ser940=)
n.329+3189G>A
6g.33443418T>ACA363629064SYNGAP1,SYNGAP1-AS1c.2608T>A (p.Ser870Thr)
c.2866T>A (p.Ser956Thr)
c.2824T>A (p.Ser942Thr)
c.2689T>A (p.Ser897Thr)
c.2821T>A (p.Ser941Thr)
n.329+3188A>T
6g.33443418T>CCA363629050SYNGAP1,SYNGAP1-AS1c.2608T>C (p.Ser870Pro)
c.2866T>C (p.Ser956Pro)
c.2824T>C (p.Ser942Pro)
c.2689T>C (p.Ser897Pro)
c.2821T>C (p.Ser941Pro)
n.329+3188A>G
6g.33443418T>GCA363629060SYNGAP1,SYNGAP1-AS1c.2608T>G (p.Ser870Ala)
c.2866T>G (p.Ser956Ala)
c.2824T>G (p.Ser942Ala)
c.2689T>G (p.Ser897Ala)
c.2821T>G (p.Ser941Ala)
n.329+3188A>C
6g.33443419C>ACA363629071SYNGAP1,SYNGAP1-AS1c.2609C>A (p.Ser870Tyr)
c.2867C>A (p.Ser956Tyr)
c.2825C>A (p.Ser942Tyr)
c.2690C>A (p.Ser897Tyr)
c.2822C>A (p.Ser941Tyr)
n.329+3187G>T
6g.33443419C>GCA363629075SYNGAP1,SYNGAP1-AS1c.2609C>G (p.Ser870Cys)
c.2867C>G (p.Ser956Cys)
c.2825C>G (p.Ser942Cys)
c.2690C>G (p.Ser897Cys)
c.2822C>G (p.Ser941Cys)
n.329+3187G>C
6g.33443419C>TCA363629078SYNGAP1,SYNGAP1-AS1c.2609C>T (p.Ser870Phe)
c.2867C>T (p.Ser956Phe)
c.2825C>T (p.Ser942Phe)
c.2690C>T (p.Ser897Phe)
c.2822C>T (p.Ser941Phe)
n.329+3187G>A
6g.33443419_33443424dupCA2573140291SYNGAP1,SYNGAP1-AS1c.2609_2614dup (p.His871_His872insProHis)
c.2867_2872dup (p.His957_His958insProHis)
c.2825_2830dup (p.His943_His944insProHis)
c.2690_2695dup (p.His898_His899insProHis)
c.2822_2827dup (p.His942_His943insProHis)
n.329+3182_329+3187dup
 ClinVar dbSNP gnomAD v4
6g.33443419_33443437delinsCCCATCACCACCACCACCACA1620014626SYNGAP1,SYNGAP1-AS1c.2609_2627delinsCCCATCACCACCACCACCA (p.Ser870=)
c.2867_2885delinsCCCATCACCACCACCACCA (p.Ser956=)
c.2825_2843delinsCCCATCACCACCACCACCA (p.Ser942=)
c.2690_2708delinsCCCATCACCACCACCACCA (p.Ser897=)
c.2822_2840delinsCCCATCACCACCACCACCA (p.Ser941=)
n.329+3169_329+3187delinsTGGTGGTGGTGGTGATGGG
6g.33443420C>ACA450104102SYNGAP1,SYNGAP1-AS1c.2610C>A (p.Ser870=)
c.2868C>A (p.Ser956=)
c.2826C>A (p.Ser942=)
c.2691C>A (p.Ser897=)
c.2823C>A (p.Ser941=)
n.329+3186G>T
6g.33443420C>GCA450104103SYNGAP1,SYNGAP1-AS1c.2610C>G (p.Ser870=)
c.2868C>G (p.Ser956=)
c.2826C>G (p.Ser942=)
c.2691C>G (p.Ser897=)
c.2823C>G (p.Ser941=)
n.329+3186G>C
6g.33443420C>TCA450104104SYNGAP1,SYNGAP1-AS1c.2610C>T (p.Ser870=)
c.2868C>T (p.Ser956=)
c.2826C>T (p.Ser942=)
c.2691C>T (p.Ser897=)
c.2823C>T (p.Ser941=)
n.329+3186G>A
 ClinVar dbSNP gnomAD v4
6g.33443434_33443451dupCA2580074385SYNGAP1,SYNGAP1-AS1c.2624_2641dup (p.His880_Arg881insHisHisHisHisHisHis)
c.2882_2899dup (p.His966_Arg967insHisHisHisHisHisHis)
c.2840_2857dup (p.His952_Arg953insHisHisHisHisHisHis)
c.2705_2722dup (p.His907_Arg908insHisHisHisHisHisHis)
c.2837_2854dup (p.His951_Arg952insHisHisHisHisHisHis)
n.329+3169_329+3186dup
 ClinVar
6g.33443434_33443451delCA824040709SYNGAP1,SYNGAP1-AS1c.2624_2641del (p.His875_His880del)
c.2882_2899del (p.His961_His966del)
c.2840_2857del (p.His947_His952del)
c.2705_2722del (p.His902_His907del)
c.2837_2854del (p.His946_His951del)
n.329+3169_329+3186del
 dbSNP
6g.33443421C>ACA363629100SYNGAP1,SYNGAP1-AS1c.2611C>A (p.His871Asn)
c.2869C>A (p.His957Asn)
c.2827C>A (p.His943Asn)
c.2692C>A (p.His898Asn)
c.2824C>A (p.His942Asn)
n.329+3185G>T
6g.33443421C>GCA363629095SYNGAP1,SYNGAP1-AS1c.2611C>G (p.His871Asp)
c.2869C>G (p.His957Asp)
c.2827C>G (p.His943Asp)
c.2692C>G (p.His898Asp)
c.2824C>G (p.His942Asp)
n.329+3185G>C
6g.33443421C>TCA363629083SYNGAP1,SYNGAP1-AS1c.2611C>T (p.His871Tyr)
c.2869C>T (p.His957Tyr)
c.2827C>T (p.His943Tyr)
c.2692C>T (p.His898Tyr)
c.2824C>T (p.His942Tyr)
n.329+3185G>A
 dbSNP gnomAD v4
6g.33443422A>CCA363629103SYNGAP1,SYNGAP1-AS1c.2612A>C (p.His871Pro)
c.2870A>C (p.His957Pro)
c.2828A>C (p.His943Pro)
c.2693A>C (p.His898Pro)
c.2825A>C (p.His942Pro)
n.329+3184T>G
6g.33443422A>GCA363629105SYNGAP1,SYNGAP1-AS1c.2612A>G (p.His871Arg)
c.2870A>G (p.His957Arg)
c.2828A>G (p.His943Arg)
c.2693A>G (p.His898Arg)
c.2825A>G (p.His942Arg)
n.329+3184T>C
 gnomAD v4
6g.33443422A>TCA363629107SYNGAP1,SYNGAP1-AS1c.2612A>T (p.His871Leu)
c.2870A>T (p.His957Leu)
c.2828A>T (p.His943Leu)
c.2693A>T (p.His898Leu)
c.2825A>T (p.His942Leu)
n.329+3184T>A
6g.33443423T>ACA363629109SYNGAP1,SYNGAP1-AS1c.2613T>A (p.His871Gln)
c.2871T>A (p.His957Gln)
c.2829T>A (p.His943Gln)
c.2694T>A (p.His898Gln)
c.2826T>A (p.His942Gln)
n.329+3183A>T
6g.33443423T>CCA450104105SYNGAP1,SYNGAP1-AS1c.2613T>C (p.His871=)
c.2871T>C (p.His957=)
c.2829T>C (p.His943=)
c.2694T>C (p.His898=)
c.2826T>C (p.His942=)
n.329+3183A>G
 gnomAD v4
6g.33443423T>GCA363629111SYNGAP1,SYNGAP1-AS1c.2613T>G (p.His871Gln)
c.2871T>G (p.His957Gln)
c.2829T>G (p.His943Gln)
c.2694T>G (p.His898Gln)
c.2826T>G (p.His942Gln)
n.329+3183A>C
6g.33443423_33443432delinsTCACCACCACCA1620014627SYNGAP1,SYNGAP1-AS1c.2613_2622delinsTCACCACCAC (p.His871=)
c.2871_2880delinsTCACCACCAC (p.His957=)
c.2829_2838delinsTCACCACCAC (p.His943=)
c.2694_2703delinsTCACCACCAC (p.His898=)
c.2826_2835delinsTCACCACCAC (p.His942=)
n.329+3174_329+3183delinsGTGGTGGTGA
6g.33443424C>ACA363629126SYNGAP1,SYNGAP1-AS1c.2614C>A (p.His872Asn)
c.2872C>A (p.His958Asn)
c.2830C>A (p.His944Asn)
c.2695C>A (p.His899Asn)
c.2827C>A (p.His943Asn)
n.329+3182G>T
6g.33443424C>GCA363629118SYNGAP1,SYNGAP1-AS1c.2614C>G (p.His872Asp)
c.2872C>G (p.His958Asp)
c.2830C>G (p.His944Asp)
c.2695C>G (p.His899Asp)
c.2827C>G (p.His943Asp)
n.329+3182G>C
6g.33443424C>TCA363629128SYNGAP1,SYNGAP1-AS1c.2614C>T (p.His872Tyr)
c.2872C>T (p.His958Tyr)
c.2830C>T (p.His944Tyr)
c.2695C>T (p.His899Tyr)
c.2827C>T (p.His943Tyr)
n.329+3182G>A
6g.33443438_33443440dupCA2580614867SYNGAP1,SYNGAP1-AS1c.2628_2630dup (p.His877_His878insHis)
c.2886_2888dup (p.His963_His964insHis)
c.2844_2846dup (p.His949_His950insHis)
c.2709_2711dup (p.His904_His905insHis)
c.2841_2843dup (p.His948_His949insHis)
n.329+3180_329+3182dup
 ClinVar dbSNP gnomAD v4
6g.33443435_33443440dupCA1620014628SYNGAP1,SYNGAP1-AS1c.2625_2630dup (p.His877_His878insHisHis)
c.2883_2888dup (p.His963_His964insHisHis)
c.2841_2846dup (p.His949_His950insHisHis)
c.2706_2711dup (p.His904_His905insHisHis)
c.2838_2843dup (p.His948_His949insHisHis)
n.329+3177_329+3182dup
 ClinVar dbSNP
6g.33443438_33443440delCA3758957SYNGAP1,SYNGAP1-AS1c.2628_2630del (p.His877del)
c.2886_2888del (p.His963del)
c.2844_2846del (p.His949del)
c.2709_2711del (p.His904del)
c.2841_2843del (p.His948del)
n.329+3180_329+3182del
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
6g.33443435_33443440delCA3758958SYNGAP1,SYNGAP1-AS1c.2625_2630del (p.His876_His877del)
c.2883_2888del (p.His962_His963del)
c.2841_2846del (p.His948_His949del)
c.2706_2711del (p.His903_His904del)
c.2838_2843del (p.His947_His948del)
n.329+3177_329+3182del
 dbSNP ExAC gnomAD v2
6g.33443432_33443440delCA916082813SYNGAP1,SYNGAP1-AS1c.2622_2630del (p.His875_His877del)
c.2880_2888del (p.His961_His963del)
c.2838_2846del (p.His947_His949del)
c.2703_2711del (p.His902_His904del)
c.2835_2843del (p.His946_His948del)
n.329+3174_329+3182del
 ClinVar dbSNP gnomAD v4
6g.33443425A=CA1620014629SYNGAP1,SYNGAP1-AS1c.2615A= (p.His872=)
c.2873A= (p.His958=)
c.2831A= (p.His944=)
c.2696A= (p.His899=)
c.2828A= (p.His943=)
n.329+3181T=
6g.33443425A>CCA363629133SYNGAP1,SYNGAP1-AS1c.2615A>C (p.His872Pro)
c.2873A>C (p.His958Pro)
c.2831A>C (p.His944Pro)
c.2696A>C (p.His899Pro)
c.2828A>C (p.His943Pro)
n.329+3181T>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
6g.33443425A>GCA363629142SYNGAP1,SYNGAP1-AS1c.2615A>G (p.His872Arg)
c.2873A>G (p.His958Arg)
c.2831A>G (p.His944Arg)
c.2696A>G (p.His899Arg)
c.2828A>G (p.His943Arg)
n.329+3181T>C
6g.33443425A>TCA363629144SYNGAP1,SYNGAP1-AS1c.2615A>T (p.His872Leu)
c.2873A>T (p.His958Leu)
c.2831A>T (p.His944Leu)
c.2696A>T (p.His899Leu)
c.2828A>T (p.His943Leu)
n.329+3181T>A
6g.33443426C>ACA363629147SYNGAP1,SYNGAP1-AS1c.2616C>A (p.His872Gln)
c.2874C>A (p.His958Gln)
c.2832C>A (p.His944Gln)
c.2697C>A (p.His899Gln)
c.2829C>A (p.His943Gln)
n.329+3180G>T
6g.33443426C>GCA363629150SYNGAP1,SYNGAP1-AS1c.2616C>G (p.His872Gln)
c.2874C>G (p.His958Gln)
c.2832C>G (p.His944Gln)
c.2697C>G (p.His899Gln)
c.2829C>G (p.His943Gln)
n.329+3180G>C
6g.33443426C>TCA450104106SYNGAP1,SYNGAP1-AS1c.2616C>T (p.His872=)
c.2874C>T (p.His958=)
c.2832C>T (p.His944=)
c.2697C>T (p.His899=)
c.2829C>T (p.His943=)
n.329+3180G>A
 gnomAD v4
6g.33443427C>ACA363629159SYNGAP1,SYNGAP1-AS1c.2617C>A (p.His873Asn)
c.2875C>A (p.His959Asn)
c.2833C>A (p.His945Asn)
c.2698C>A (p.His900Asn)
c.2830C>A (p.His944Asn)
n.329+3179G>T
 dbSNP
6g.33443427C=CA1620014630SYNGAP1,SYNGAP1-AS1c.2617C= (p.His873=)
c.2875C= (p.His959=)
c.2833C= (p.His945=)
c.2698C= (p.His900=)
c.2830C= (p.His944=)
n.329+3179G=
6g.33443427C>GCA363629154SYNGAP1,SYNGAP1-AS1c.2617C>G (p.His873Asp)
c.2875C>G (p.His959Asp)
c.2833C>G (p.His945Asp)
c.2698C>G (p.His900Asp)
c.2830C>G (p.His944Asp)
n.329+3179G>C
 gnomAD v4
6g.33443427C>TCA363629158SYNGAP1,SYNGAP1-AS1c.2617C>T (p.His873Tyr)
c.2875C>T (p.His959Tyr)
c.2833C>T (p.His945Tyr)
c.2698C>T (p.His900Tyr)
c.2830C>T (p.His944Tyr)
n.329+3179G>A
6g.33443428A=CA1620014631SYNGAP1,SYNGAP1-AS1c.2618A= (p.His873=)
c.2876A= (p.His959=)
c.2834A= (p.His945=)
c.2699A= (p.His900=)
c.2831A= (p.His944=)
n.329+3178T=
6g.33443428A>CCA363629162SYNGAP1,SYNGAP1-AS1c.2618A>C (p.His873Pro)
c.2876A>C (p.His959Pro)
c.2834A>C (p.His945Pro)
c.2699A>C (p.His900Pro)
c.2831A>C (p.His944Pro)
n.329+3178T>G
6g.33443428A>GCA363629166SYNGAP1,SYNGAP1-AS1c.2618A>G (p.His873Arg)
c.2876A>G (p.His959Arg)
c.2834A>G (p.His945Arg)
c.2699A>G (p.His900Arg)
c.2831A>G (p.His944Arg)
n.329+3178T>C
 dbSNP
6g.33443428A>TCA363629169SYNGAP1,SYNGAP1-AS1c.2618A>T (p.His873Leu)
c.2876A>T (p.His959Leu)
c.2834A>T (p.His945Leu)
c.2699A>T (p.His900Leu)
c.2831A>T (p.His944Leu)
n.329+3178T>A
6g.33443429C>ACA363629170SYNGAP1,SYNGAP1-AS1c.2619C>A (p.His873Gln)
c.2877C>A (p.His959Gln)
c.2835C>A (p.His945Gln)
c.2700C>A (p.His900Gln)
c.2832C>A (p.His944Gln)
n.329+3177G>T
6g.33443429C>GCA363629171SYNGAP1,SYNGAP1-AS1c.2619C>G (p.His873Gln)
c.2877C>G (p.His959Gln)
c.2835C>G (p.His945Gln)
c.2700C>G (p.His900Gln)
c.2832C>G (p.His944Gln)
n.329+3177G>C
6g.33443429C>TCA450104107SYNGAP1,SYNGAP1-AS1c.2619C>T (p.His873=)
c.2877C>T (p.His959=)
c.2835C>T (p.His945=)
c.2700C>T (p.His900=)
c.2832C>T (p.His944=)
n.329+3177G>A
 gnomAD v4
6g.33443429_33443441delinsCCACCACCACCATCA1620014632SYNGAP1,SYNGAP1-AS1c.2619_2631delinsCCACCACCACCAT (p.His873=)
c.2877_2889delinsCCACCACCACCAT (p.His959=)
c.2835_2847delinsCCACCACCACCAT (p.His945=)
c.2700_2712delinsCCACCACCACCAT (p.His900=)
c.2832_2844delinsCCACCACCACCAT (p.His944=)
n.329+3165_329+3177delinsATGGTGGTGGTGG
6g.33443430C>ACA363629172SYNGAP1,SYNGAP1-AS1c.2620C>A (p.His874Asn)
c.2878C>A (p.His960Asn)
c.2836C>A (p.His946Asn)
c.2701C>A (p.His901Asn)
c.2833C>A (p.His945Asn)
n.329+3176G>T
6g.33443430C=CA1620014633SYNGAP1,SYNGAP1-AS1c.2620C= (p.His874=)
c.2878C= (p.His960=)
c.2836C= (p.His946=)
c.2701C= (p.His901=)
c.2833C= (p.His945=)
n.329+3176G=
6g.33443430C>GCA363629174SYNGAP1,SYNGAP1-AS1c.2620C>G (p.His874Asp)
c.2878C>G (p.His960Asp)
c.2836C>G (p.His946Asp)
c.2701C>G (p.His901Asp)
c.2833C>G (p.His945Asp)
n.329+3176G>C
 dbSNP
6g.33443430C>TCA363629173SYNGAP1,SYNGAP1-AS1c.2620C>T (p.His874Tyr)
c.2878C>T (p.His960Tyr)
c.2836C>T (p.His946Tyr)
c.2701C>T (p.His901Tyr)
c.2833C>T (p.His945Tyr)
n.329+3176G>A
 gnomAD v4
6g.33443440_33443451dupCA2678276282SYNGAP1,SYNGAP1-AS1c.2630_2641dup (p.His880_Arg881insHisHisHisHis)
c.2888_2899dup (p.His966_Arg967insHisHisHisHis)
c.2846_2857dup (p.His952_Arg953insHisHisHisHis)
c.2711_2722dup (p.His907_Arg908insHisHisHisHis)
c.2843_2854dup (p.His951_Arg952insHisHisHisHis)
n.329+3165_329+3176dup
 gnomAD v4
6g.33443440_33443451delCA566700708SYNGAP1,SYNGAP1-AS1c.2630_2641del (p.His877_His880del)
c.2888_2899del (p.His963_His966del)
c.2846_2857del (p.His949_His952del)
c.2711_2722del (p.His904_His907del)
c.2843_2854del (p.His948_His951del)
n.329+3165_329+3176del
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.33443431A>CCA363629176SYNGAP1,SYNGAP1-AS1c.2621A>C (p.His874Pro)
c.2879A>C (p.His960Pro)
c.2837A>C (p.His946Pro)
c.2702A>C (p.His901Pro)
c.2834A>C (p.His945Pro)
n.329+3175T>G
6g.33443431A>GCA363629178SYNGAP1,SYNGAP1-AS1c.2621A>G (p.His874Arg)
c.2879A>G (p.His960Arg)
c.2837A>G (p.His946Arg)
c.2702A>G (p.His901Arg)
c.2834A>G (p.His945Arg)
n.329+3175T>C
 gnomAD v4
6g.33443431A>TCA363629179SYNGAP1,SYNGAP1-AS1c.2621A>T (p.His874Leu)
c.2879A>T (p.His960Leu)
c.2837A>T (p.His946Leu)
c.2702A>T (p.His901Leu)
c.2834A>T (p.His945Leu)
n.329+3175T>A
6g.33443432C>ACA363629183SYNGAP1,SYNGAP1-AS1c.2622C>A (p.His874Gln)
c.2880C>A (p.His960Gln)
c.2838C>A (p.His946Gln)
c.2703C>A (p.His901Gln)
c.2835C>A (p.His945Gln)
n.329+3174G>T
6g.33443432C>GCA363629186SYNGAP1,SYNGAP1-AS1c.2622C>G (p.His874Gln)
c.2880C>G (p.His960Gln)
c.2838C>G (p.His946Gln)
c.2703C>G (p.His901Gln)
c.2835C>G (p.His945Gln)
n.329+3174G>C
6g.33443432C>TCA450104108SYNGAP1,SYNGAP1-AS1c.2622C>T (p.His874=)
c.2880C>T (p.His960=)
c.2838C>T (p.His946=)
c.2703C>T (p.His901=)
c.2835C>T (p.His945=)
n.329+3174G>A
6g.33443433C>ACA363629188SYNGAP1,SYNGAP1-AS1c.2623C>A (p.His875Asn)
c.2881C>A (p.His961Asn)
c.2839C>A (p.His947Asn)
c.2704C>A (p.His902Asn)
c.2836C>A (p.His946Asn)
n.329+3173G>T
 dbSNP
6g.33443433C=CA1620014634SYNGAP1,SYNGAP1-AS1c.2623C= (p.His875=)
c.2881C= (p.His961=)
c.2839C= (p.His947=)
c.2704C= (p.His902=)
c.2836C= (p.His946=)
n.329+3173G=
6g.33443433C>GCA363629191SYNGAP1,SYNGAP1-AS1c.2623C>G (p.His875Asp)
c.2881C>G (p.His961Asp)
c.2839C>G (p.His947Asp)
c.2704C>G (p.His902Asp)
c.2836C>G (p.His946Asp)
n.329+3173G>C
6g.33443433C>TCA3758959SYNGAP1,SYNGAP1-AS1c.2623C>T (p.His875Tyr)
c.2881C>T (p.His961Tyr)
c.2839C>T (p.His947Tyr)
c.2704C>T (p.His902Tyr)
c.2836C>T (p.His946Tyr)
n.329+3173G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.33443441_33443449dupCA2678276291SYNGAP1,SYNGAP1-AS1c.2631_2639dup (p.His880_Arg881insHisHisHis)
c.2889_2897dup (p.His966_Arg967insHisHisHis)
c.2847_2855dup (p.His952_Arg953insHisHisHis)
c.2712_2720dup (p.His907_Arg908insHisHisHis)
c.2844_2852dup (p.His951_Arg952insHisHisHis)
n.329+3165_329+3173dup
 gnomAD v4
6g.33443434A>CCA363629206SYNGAP1,SYNGAP1-AS1c.2624A>C (p.His875Pro)
c.2882A>C (p.His961Pro)
c.2840A>C (p.His947Pro)
c.2705A>C (p.His902Pro)
c.2837A>C (p.His946Pro)
n.329+3172T>G
6g.33443434A>GCA363629209SYNGAP1,SYNGAP1-AS1c.2624A>G (p.His875Arg)
c.2882A>G (p.His961Arg)
c.2840A>G (p.His947Arg)
c.2705A>G (p.His902Arg)
c.2837A>G (p.His946Arg)
n.329+3172T>C
6g.33443434A>TCA363629217SYNGAP1,SYNGAP1-AS1c.2624A>T (p.His875Leu)
c.2882A>T (p.His961Leu)
c.2840A>T (p.His947Leu)
c.2705A>T (p.His902Leu)
c.2837A>T (p.His946Leu)
n.329+3172T>A
6g.33443435C>ACA363629238SYNGAP1,SYNGAP1-AS1c.2625C>A (p.His875Gln)
c.2883C>A (p.His961Gln)
c.2841C>A (p.His947Gln)
c.2706C>A (p.His902Gln)
c.2838C>A (p.His946Gln)
n.329+3171G>T
6g.33443435C=CA1620014635SYNGAP1,SYNGAP1-AS1c.2625C= (p.His875=)
c.2883C= (p.His961=)
c.2841C= (p.His947=)
c.2706C= (p.His902=)
c.2838C= (p.His946=)
n.329+3171G=
6g.33443435C>GCA363629229SYNGAP1,SYNGAP1-AS1c.2625C>G (p.His875Gln)
c.2883C>G (p.His961Gln)
c.2841C>G (p.His947Gln)
c.2706C>G (p.His902Gln)
c.2838C>G (p.His946Gln)
n.329+3171G>C
6g.33443435C>TCA3758960SYNGAP1,SYNGAP1-AS1c.2625C>T (p.His875=)
c.2883C>T (p.His961=)
c.2841C>T (p.His947=)
c.2706C>T (p.His902=)
c.2838C>T (p.His946=)
n.329+3171G>A
 dbSNP ExAC gnomAD v4
6g.33443436C>ACA363629243SYNGAP1,SYNGAP1-AS1c.2626C>A (p.His876Asn)
c.2884C>A (p.His962Asn)
c.2842C>A (p.His948Asn)
c.2707C>A (p.His903Asn)
c.2839C>A (p.His947Asn)
n.329+3170G>T
6g.33443436C>GCA363629265SYNGAP1,SYNGAP1-AS1c.2626C>G (p.His876Asp)
c.2884C>G (p.His962Asp)
c.2842C>G (p.His948Asp)
c.2707C>G (p.His903Asp)
c.2839C>G (p.His947Asp)
n.329+3170G>C
6g.33443436C>TCA363629260SYNGAP1,SYNGAP1-AS1c.2626C>T (p.His876Tyr)
c.2884C>T (p.His962Tyr)
c.2842C>T (p.His948Tyr)
c.2707C>T (p.His903Tyr)
c.2839C>T (p.His947Tyr)
n.329+3170G>A
6g.33443441_33443446delCA645559125SYNGAP1,SYNGAP1-AS1c.2631_2636del (p.His878_His879del)
c.2889_2894del (p.His964_His965del)
c.2847_2852del (p.His950_His951del)
c.2712_2717del (p.His905_His906del)
c.2844_2849del (p.His949_His950del)
n.329+3165_329+3170del
 gnomAD v4 COSMIC COSMIC
6g.33443437A>CCA363629272SYNGAP1,SYNGAP1-AS1c.2627A>C (p.His876Pro)
c.2885A>C (p.His962Pro)
c.2843A>C (p.His948Pro)
c.2708A>C (p.His903Pro)
c.2840A>C (p.His947Pro)
n.329+3169T>G
6g.33443437A>GCA363629283SYNGAP1,SYNGAP1-AS1c.2627A>G (p.His876Arg)
c.2885A>G (p.His962Arg)
c.2843A>G (p.His948Arg)
c.2708A>G (p.His903Arg)
c.2840A>G (p.His947Arg)
n.329+3169T>C
6g.33443437A>TCA363629276SYNGAP1,SYNGAP1-AS1c.2627A>T (p.His876Leu)
c.2885A>T (p.His962Leu)
c.2843A>T (p.His948Leu)
c.2708A>T (p.His903Leu)
c.2840A>T (p.His947Leu)
n.329+3169T>A
6g.33443438C>ACA363629287SYNGAP1,SYNGAP1-AS1c.2628C>A (p.His876Gln)
c.2886C>A (p.His962Gln)
c.2844C>A (p.His948Gln)
c.2709C>A (p.His903Gln)
c.2841C>A (p.His947Gln)
n.329+3168G>T
6g.33443438C>GCA363629290SYNGAP1,SYNGAP1-AS1c.2628C>G (p.His876Gln)
c.2886C>G (p.His962Gln)
c.2844C>G (p.His948Gln)
c.2709C>G (p.His903Gln)
c.2841C>G (p.His947Gln)
n.329+3168G>C
6g.33443438C>TCA450104109SYNGAP1,SYNGAP1-AS1c.2628C>T (p.His876=)
c.2886C>T (p.His962=)
c.2844C>T (p.His948=)
c.2709C>T (p.His903=)
c.2841C>T (p.His947=)
n.329+3168G>A
 COSMIC COSMIC
6g.33443439C>ACA363629297SYNGAP1,SYNGAP1-AS1c.2629C>A (p.His877Asn)
c.2887C>A (p.His963Asn)
c.2845C>A (p.His949Asn)
c.2710C>A (p.His904Asn)
c.2842C>A (p.His948Asn)
n.329+3167G>T
6g.33443439C=CA1620014636SYNGAP1,SYNGAP1-AS1c.2629C= (p.His877=)
c.2887C= (p.His963=)
c.2845C= (p.His949=)
c.2710C= (p.His904=)
c.2842C= (p.His948=)
n.329+3167G=
6g.33443439C>GCA363629306SYNGAP1,SYNGAP1-AS1c.2629C>G (p.His877Asp)
c.2887C>G (p.His963Asp)
c.2845C>G (p.His949Asp)
c.2710C>G (p.His904Asp)
c.2842C>G (p.His948Asp)
n.329+3167G>C
6g.33443439C>TCA363629309SYNGAP1,SYNGAP1-AS1c.2629C>T (p.His877Tyr)
c.2887C>T (p.His963Tyr)
c.2845C>T (p.His949Tyr)
c.2710C>T (p.His904Tyr)
c.2842C>T (p.His948Tyr)
n.329+3167G>A
 dbSNP gnomAD v2 gnomAD v4
6g.33443441_33443443dupCA2770567194SYNGAP1,SYNGAP1-AS1c.2631_2633dup (p.His878_His879insHis)
c.2889_2891dup (p.His964_His965insHis)
c.2847_2849dup (p.His950_His951insHis)
c.2712_2714dup (p.His905_His906insHis)
c.2844_2846dup (p.His949_His950insHis)
n.329+3165_329+3167dup
6g.33443440A=CA1620014637SYNGAP1,SYNGAP1-AS1c.2630A= (p.His877=)
c.2888A= (p.His963=)
c.2846A= (p.His949=)
c.2711A= (p.His904=)
c.2843A= (p.His948=)
n.329+3166T=
6g.33443440A>CCA363629319SYNGAP1,SYNGAP1-AS1c.2630A>C (p.His877Pro)
c.2888A>C (p.His963Pro)
c.2846A>C (p.His949Pro)
c.2711A>C (p.His904Pro)
c.2843A>C (p.His948Pro)
n.329+3166T>G
6g.33443440A>GCA137073139SYNGAP1,SYNGAP1-AS1c.2630A>G (p.His877Arg)
c.2888A>G (p.His963Arg)
c.2846A>G (p.His949Arg)
c.2711A>G (p.His904Arg)
c.2843A>G (p.His948Arg)
n.329+3166T>C
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.33443440A>TCA363629323SYNGAP1,SYNGAP1-AS1c.2630A>T (p.His877Leu)
c.2888A>T (p.His963Leu)
c.2846A>T (p.His949Leu)
c.2711A>T (p.His904Leu)
c.2843A>T (p.His948Leu)
n.329+3166T>A
6g.33443441T>ACA363629326SYNGAP1,SYNGAP1-AS1c.2631T>A (p.His877Gln)
c.2889T>A (p.His963Gln)
c.2847T>A (p.His949Gln)
c.2712T>A (p.His904Gln)
c.2844T>A (p.His948Gln)
n.329+3165A>T
6g.33443441T>CCA450104110SYNGAP1,SYNGAP1-AS1c.2631T>C (p.His877=)
c.2889T>C (p.His963=)
c.2847T>C (p.His949=)
c.2712T>C (p.His904=)
c.2844T>C (p.His948=)
n.329+3165A>G
 ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
6g.33443441T>GCA363629328SYNGAP1,SYNGAP1-AS1c.2631T>G (p.His877Gln)
c.2889T>G (p.His963Gln)
c.2847T>G (p.His949Gln)
c.2712T>G (p.His904Gln)
c.2844T>G (p.His948Gln)
n.329+3165A>C
6g.33443441T=CA1620014638SYNGAP1,SYNGAP1-AS1c.2631T= (p.His877=)
c.2889T= (p.His963=)
c.2847T= (p.His949=)
c.2712T= (p.His904=)
c.2844T= (p.His948=)
n.329+3165A=
6g.33443442C>ACA363629331SYNGAP1,SYNGAP1-AS1c.2632C>A (p.His878Asn)
c.2890C>A (p.His964Asn)
c.2848C>A (p.His950Asn)
c.2713C>A (p.His905Asn)
c.2845C>A (p.His949Asn)
n.329+3164G>T
6g.33443442C>GCA363629336SYNGAP1,SYNGAP1-AS1c.2632C>G (p.His878Asp)
c.2890C>G (p.His964Asp)
c.2848C>G (p.His950Asp)
c.2713C>G (p.His905Asp)
c.2845C>G (p.His949Asp)
n.329+3164G>C
6g.33443442C>TCA363629337SYNGAP1,SYNGAP1-AS1c.2632C>T (p.His878Tyr)
c.2890C>T (p.His964Tyr)
c.2848C>T (p.His950Tyr)
c.2713C>T (p.His905Tyr)
c.2845C>T (p.His949Tyr)
n.329+3164G>A
6g.33443449_33443451dupCA2678276330SYNGAP1,SYNGAP1-AS1c.2639_2641dup (p.His880_Arg881insHis)
c.2897_2899dup (p.His966_Arg967insHis)
c.2855_2857dup (p.His952_Arg953insHis)
c.2720_2722dup (p.His907_Arg908insHis)
c.2852_2854dup (p.His951_Arg952insHis)
n.329+3162_329+3164dup
 gnomAD v4
6g.33443443A>CCA363629356SYNGAP1,SYNGAP1-AS1c.2633A>C (p.His878Pro)
c.2891A>C (p.His964Pro)
c.2849A>C (p.His950Pro)
c.2714A>C (p.His905Pro)
c.2846A>C (p.His949Pro)
n.329+3163T>G
6g.33443443A>GCA363629353SYNGAP1,SYNGAP1-AS1c.2633A>G (p.His878Arg)
c.2891A>G (p.His964Arg)
c.2849A>G (p.His950Arg)
c.2714A>G (p.His905Arg)
c.2846A>G (p.His949Arg)
n.329+3163T>C
6g.33443443A>TCA363629351SYNGAP1,SYNGAP1-AS1c.2633A>T (p.His878Leu)
c.2891A>T (p.His964Leu)
c.2849A>T (p.His950Leu)
c.2714A>T (p.His905Leu)
c.2846A>T (p.His949Leu)
n.329+3163T>A
6g.33443444C>ACA363629359SYNGAP1,SYNGAP1-AS1c.2634C>A (p.His878Gln)
c.2892C>A (p.His964Gln)
c.2850C>A (p.His950Gln)
c.2715C>A (p.His905Gln)
c.2847C>A (p.His949Gln)
n.329+3162G>T
6g.33443444C=CA1620014639SYNGAP1,SYNGAP1-AS1c.2634C= (p.His878=)
c.2892C= (p.His964=)
c.2850C= (p.His950=)
c.2715C= (p.His905=)
c.2847C= (p.His949=)
n.329+3162G=
6g.33443444C>GCA363629361SYNGAP1,SYNGAP1-AS1c.2634C>G (p.His878Gln)
c.2892C>G (p.His964Gln)
c.2850C>G (p.His950Gln)
c.2715C>G (p.His905Gln)
c.2847C>G (p.His949Gln)
n.329+3162G>C
6g.33443444C>TCA450104111SYNGAP1,SYNGAP1-AS1c.2634C>T (p.His878=)
c.2892C>T (p.His964=)
c.2850C>T (p.His950=)
c.2715C>T (p.His905=)
c.2847C>T (p.His949=)
n.329+3162G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.33443445C>ACA363629362SYNGAP1,SYNGAP1-AS1c.2635C>A (p.His879Asn)
c.2893C>A (p.His965Asn)
c.2851C>A (p.His951Asn)
c.2716C>A (p.His906Asn)
c.2848C>A (p.His950Asn)
n.329+3161G>T
6g.33443445C>GCA363629368SYNGAP1,SYNGAP1-AS1c.2635C>G (p.His879Asp)
c.2893C>G (p.His965Asp)
c.2851C>G (p.His951Asp)
c.2716C>G (p.His906Asp)
c.2848C>G (p.His950Asp)
n.329+3161G>C
 gnomAD v4
6g.33443445C>TCA363629370SYNGAP1,SYNGAP1-AS1c.2635C>T (p.His879Tyr)
c.2893C>T (p.His965Tyr)
c.2851C>T (p.His951Tyr)
c.2716C>T (p.His906Tyr)
c.2848C>T (p.His950Tyr)
n.329+3161G>A
6g.33443446A=CA1620014640SYNGAP1,SYNGAP1-AS1c.2636A= (p.His879=)
c.2894A= (p.His965=)
c.2852A= (p.His951=)
c.2717A= (p.His906=)
c.2849A= (p.His950=)
n.329+3160T=
6g.33443446A>CCA363629374SYNGAP1,SYNGAP1-AS1c.2636A>C (p.His879Pro)
c.2894A>C (p.His965Pro)
c.2852A>C (p.His951Pro)
c.2717A>C (p.His906Pro)
c.2849A>C (p.His950Pro)
n.329+3160T>G
6g.33443446A>GCA363629377SYNGAP1,SYNGAP1-AS1c.2636A>G (p.His879Arg)
c.2894A>G (p.His965Arg)
c.2852A>G (p.His951Arg)
c.2717A>G (p.His906Arg)
c.2849A>G (p.His950Arg)
n.329+3160T>C
 dbSNP gnomAD v2 gnomAD v4
6g.33443446A>TCA363629388SYNGAP1,SYNGAP1-AS1c.2636A>T (p.His879Leu)
c.2894A>T (p.His965Leu)
c.2852A>T (p.His951Leu)
c.2717A>T (p.His906Leu)
c.2849A>T (p.His950Leu)
n.329+3160T>A
6g.33443447C>ACA363629391SYNGAP1,SYNGAP1-AS1c.2637C>A (p.His879Gln)
c.2895C>A (p.His965Gln)
c.2853C>A (p.His951Gln)
c.2718C>A (p.His906Gln)
c.2850C>A (p.His950Gln)
n.329+3159G>T
6g.33443447C>GCA363629398SYNGAP1,SYNGAP1-AS1c.2637C>G (p.His879Gln)
c.2895C>G (p.His965Gln)
c.2853C>G (p.His951Gln)
c.2718C>G (p.His906Gln)
c.2850C>G (p.His950Gln)
n.329+3159G>C
6g.33443447C>TCA450104112SYNGAP1,SYNGAP1-AS1c.2637C>T (p.His879=)
c.2895C>T (p.His965=)
c.2853C>T (p.His951=)
c.2718C>T (p.His906=)
c.2850C>T (p.His950=)
n.329+3159G>A
 gnomAD v4
6g.33443448C>ACA363629401SYNGAP1,SYNGAP1-AS1c.2638C>A (p.His880Asn)
c.2896C>A (p.His966Asn)
c.2854C>A (p.His952Asn)
c.2719C>A (p.His907Asn)
c.2851C>A (p.His951Asn)
n.329+3158G>T
6g.33443448C=CA1620014641SYNGAP1,SYNGAP1-AS1c.2638C= (p.His880=)
c.2896C= (p.His966=)
c.2854C= (p.His952=)
c.2719C= (p.His907=)
c.2851C= (p.His951=)
n.329+3158G=
6g.33443448C>GCA363629410SYNGAP1,SYNGAP1-AS1c.2638C>G (p.His880Asp)
c.2896C>G (p.His966Asp)
c.2854C>G (p.His952Asp)
c.2719C>G (p.His907Asp)
c.2851C>G (p.His951Asp)
n.329+3158G>C
 gnomAD v4
6g.33443448C>TCA363629413SYNGAP1,SYNGAP1-AS1c.2638C>T (p.His880Tyr)
c.2896C>T (p.His966Tyr)
c.2854C>T (p.His952Tyr)
c.2719C>T (p.His907Tyr)
c.2851C>T (p.His951Tyr)
n.329+3158G>A
 dbSNP gnomAD v4
6g.33443449A=CA1620014642SYNGAP1,SYNGAP1-AS1c.2639A= (p.His880=)
c.2897A= (p.His966=)
c.2855A= (p.His952=)
c.2720A= (p.His907=)
c.2852A= (p.His951=)
n.329+3157T=
6g.33443449A>CCA363629424SYNGAP1,SYNGAP1-AS1c.2639A>C (p.His880Pro)
c.2897A>C (p.His966Pro)
c.2855A>C (p.His952Pro)
c.2720A>C (p.His907Pro)
c.2852A>C (p.His951Pro)
n.329+3157T>G
6g.33443449A>GCA363629419SYNGAP1,SYNGAP1-AS1c.2639A>G (p.His880Arg)
c.2897A>G (p.His966Arg)
c.2855A>G (p.His952Arg)
c.2720A>G (p.His907Arg)
c.2852A>G (p.His951Arg)
n.329+3157T>C
 dbSNP gnomAD v2 gnomAD v4
6g.33443449A>TCA363629416SYNGAP1,SYNGAP1-AS1c.2639A>T (p.His880Leu)
c.2897A>T (p.His966Leu)
c.2855A>T (p.His952Leu)
c.2720A>T (p.His907Leu)
c.2852A>T (p.His951Leu)
n.329+3157T>A
6g.33443450C>ACA363629427SYNGAP1,SYNGAP1-AS1c.2640C>A (p.His880Gln)
c.2898C>A (p.His966Gln)
c.2856C>A (p.His952Gln)
c.2721C>A (p.His907Gln)
c.2853C>A (p.His951Gln)
n.329+3156G>T
6g.33443450C=CA1620014643SYNGAP1,SYNGAP1-AS1c.2640C= (p.His880=)
c.2898C= (p.His966=)
c.2856C= (p.His952=)
c.2721C= (p.His907=)
c.2853C= (p.His951=)
n.329+3156G=
6g.33443450C>GCA363629428SYNGAP1,SYNGAP1-AS1c.2640C>G (p.His880Gln)
c.2898C>G (p.His966Gln)
c.2856C>G (p.His952Gln)
c.2721C>G (p.His907Gln)
c.2853C>G (p.His951Gln)
n.329+3156G>C
6g.33443450C>TCA137073146SYNGAP1,SYNGAP1-AS1c.2640C>T (p.His880=)
c.2898C>T (p.His966=)
c.2856C>T (p.His952=)
c.2721C>T (p.His907=)
c.2853C>T (p.His951=)
n.329+3156G>A
 dbSNP
6g.33443451C>ACA450104113SYNGAP1,SYNGAP1-AS1c.2641C>A (p.Arg881=)
c.2899C>A (p.Arg967=)
c.2857C>A (p.Arg953=)
c.2722C>A (p.Arg908=)
c.2854C>A (p.Arg952=)
n.329+3155G>T
6g.33443451C=CA1620014644SYNGAP1,SYNGAP1-AS1c.2641C= (p.Arg881=)
c.2899C= (p.Arg967=)
c.2857C= (p.Arg953=)
c.2722C= (p.Arg908=)
c.2854C= (p.Arg952=)
n.329+3155G=
6g.33443451C>GCA3758961SYNGAP1,SYNGAP1-AS1c.2641C>G (p.Arg881Gly)
c.2899C>G (p.Arg967Gly)
c.2857C>G (p.Arg953Gly)
c.2722C>G (p.Arg908Gly)
c.2854C>G (p.Arg952Gly)
n.329+3155G>C
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.33443451C>TCA363629434SYNGAP1,SYNGAP1-AS1c.2641C>T (p.Arg881Ter)
c.2899C>T (p.Arg967Ter)
c.2857C>T (p.Arg953Ter)
c.2722C>T (p.Arg908Ter)
c.2854C>T (p.Arg952Ter)
n.329+3155G>A
 ClinVar dbSNP
6g.33443452G>ACA3758962SYNGAP1,SYNGAP1-AS1c.2642G>A (p.Arg881Gln)
c.2900G>A (p.Arg967Gln)
c.2858G>A (p.Arg953Gln)
c.2723G>A (p.Arg908Gln)
c.2855G>A (p.Arg952Gln)
n.329+3154C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
6g.33443452G>CCA363629435SYNGAP1,SYNGAP1-AS1c.2642G>C (p.Arg881Pro)
c.2900G>C (p.Arg967Pro)
c.2858G>C (p.Arg953Pro)
c.2723G>C (p.Arg908Pro)
c.2855G>C (p.Arg952Pro)
n.329+3154C>G
6g.33443452G=CA1620014645SYNGAP1,SYNGAP1-AS1c.2642G= (p.Arg881=)
c.2900G= (p.Arg967=)
c.2858G= (p.Arg953=)
c.2723G= (p.Arg908=)
c.2855G= (p.Arg952=)
n.329+3154C=
6g.33443452G>TCA363629436SYNGAP1,SYNGAP1-AS1c.2642G>T (p.Arg881Leu)
c.2900G>T (p.Arg967Leu)
c.2858G>T (p.Arg953Leu)
c.2723G>T (p.Arg908Leu)
c.2855G>T (p.Arg952Leu)
n.329+3154C>A
 gnomAD v4
6g.33443453A>CCA450104114SYNGAP1,SYNGAP1-AS1c.2643A>C (p.Arg881=)
c.2901A>C (p.Arg967=)
c.2859A>C (p.Arg953=)
c.2724A>C (p.Arg908=)
c.2856A>C (p.Arg952=)
n.329+3153T>G
6g.33443453A>GCA450104115SYNGAP1,SYNGAP1-AS1c.2643A>G (p.Arg881=)
c.2901A>G (p.Arg967=)
c.2859A>G (p.Arg953=)
c.2724A>G (p.Arg908=)
c.2856A>G (p.Arg952=)
n.329+3153T>C
6g.33443453A>TCA450104116SYNGAP1,SYNGAP1-AS1c.2643A>T (p.Arg881=)
c.2901A>T (p.Arg967=)
c.2859A>T (p.Arg953=)
c.2724A>T (p.Arg908=)
c.2856A>T (p.Arg952=)
n.329+3153T>A
6g.33443454G>ACA363629438SYNGAP1,SYNGAP1-AS1c.2644G>A (p.Gly882Ser)
c.2902G>A (p.Gly968Ser)
c.2860G>A (p.Gly954Ser)
c.2725G>A (p.Gly909Ser)
c.2857G>A (p.Gly953Ser)
n.329+3152C>T
6g.33443454G>CCA363629439SYNGAP1,SYNGAP1-AS1c.2644G>C (p.Gly882Arg)
c.2902G>C (p.Gly968Arg)
c.2860G>C (p.Gly954Arg)
c.2725G>C (p.Gly909Arg)
c.2857G>C (p.Gly953Arg)
n.329+3152C>G
6g.33443454G>TCA363629442SYNGAP1,SYNGAP1-AS1c.2644G>T (p.Gly882Cys)
c.2902G>T (p.Gly968Cys)
c.2860G>T (p.Gly954Cys)
c.2725G>T (p.Gly909Cys)
c.2857G>T (p.Gly953Cys)
n.329+3152C>A
6g.33443455G>ACA363629448SYNGAP1,SYNGAP1-AS1c.2645G>A (p.Gly882Asp)
c.2903G>A (p.Gly968Asp)
c.2861G>A (p.Gly954Asp)
c.2726G>A (p.Gly909Asp)
c.2858G>A (p.Gly953Asp)
n.329+3151C>T
 gnomAD v4
6g.33443455G>CCA363629453SYNGAP1,SYNGAP1-AS1c.2645G>C (p.Gly882Ala)
c.2903G>C (p.Gly968Ala)
c.2861G>C (p.Gly954Ala)
c.2726G>C (p.Gly909Ala)
c.2858G>C (p.Gly953Ala)
n.329+3151C>G
6g.33443455G>TCA363629454SYNGAP1,SYNGAP1-AS1c.2645G>T (p.Gly882Val)
c.2903G>T (p.Gly968Val)
c.2861G>T (p.Gly954Val)
c.2726G>T (p.Gly909Val)
c.2858G>T (p.Gly953Val)
n.329+3151C>A
6g.33443456T>ACA450104117SYNGAP1,SYNGAP1-AS1c.2646T>A (p.Gly882=)
c.2904T>A (p.Gly968=)
c.2862T>A (p.Gly954=)
c.2727T>A (p.Gly909=)
c.2859T>A (p.Gly953=)
n.329+3150A>T
6g.33443456T>CCA450104118SYNGAP1,SYNGAP1-AS1c.2646T>C (p.Gly882=)
c.2904T>C (p.Gly968=)
c.2862T>C (p.Gly954=)
c.2727T>C (p.Gly909=)
c.2859T>C (p.Gly953=)
n.329+3150A>G
6g.33443456T>GCA450104119SYNGAP1,SYNGAP1-AS1c.2646T>G (p.Gly882=)
c.2904T>G (p.Gly968=)
c.2862T>G (p.Gly954=)
c.2727T>G (p.Gly909=)
c.2859T>G (p.Gly953=)
n.329+3150A>C
6g.33443457G>ACA363629473SYNGAP1,SYNGAP1-AS1c.2647G>A (p.Gly883Arg)
c.2905G>A (p.Gly969Arg)
c.2863G>A (p.Gly955Arg)
c.2728G>A (p.Gly910Arg)
c.2860G>A (p.Gly954Arg)
n.329+3149C>T
6g.33443457G>CCA363629464SYNGAP1,SYNGAP1-AS1c.2647G>C (p.Gly883Arg)
c.2905G>C (p.Gly969Arg)
c.2863G>C (p.Gly955Arg)
c.2728G>C (p.Gly910Arg)
c.2860G>C (p.Gly954Arg)
n.329+3149C>G
6g.33443457G=CA1620014646SYNGAP1,SYNGAP1-AS1c.2647G= (p.Gly883=)
c.2905G= (p.Gly969=)
c.2863G= (p.Gly955=)
c.2728G= (p.Gly910=)
c.2860G= (p.Gly954=)
n.329+3149C=
6g.33443457G>TCA363629467SYNGAP1,SYNGAP1-AS1c.2647G>T (p.Gly883Ter)
c.2905G>T (p.Gly969Ter)
c.2863G>T (p.Gly955Ter)
c.2728G>T (p.Gly910Ter)
c.2860G>T (p.Gly954Ter)
n.329+3149C>A
 dbSNP
6g.33443458G>ACA363629479SYNGAP1,SYNGAP1-AS1c.2648G>A (p.Gly883Glu)
c.2906G>A (p.Gly969Glu)
c.2864G>A (p.Gly955Glu)
c.2729G>A (p.Gly910Glu)
c.2861G>A (p.Gly954Glu)
n.329+3148C>T
6g.33443458G>CCA363629483SYNGAP1,SYNGAP1-AS1c.2648G>C (p.Gly883Ala)
c.2906G>C (p.Gly969Ala)
c.2864G>C (p.Gly955Ala)
c.2729G>C (p.Gly910Ala)
c.2861G>C (p.Gly954Ala)
n.329+3148C>G
6g.33443458G>TCA363629489SYNGAP1,SYNGAP1-AS1c.2648G>T (p.Gly883Val)
c.2906G>T (p.Gly969Val)
c.2864G>T (p.Gly955Val)
c.2729G>T (p.Gly910Val)
c.2861G>T (p.Gly954Val)
n.329+3148C>A
6g.33443459A>CCA450104120SYNGAP1,SYNGAP1-AS1c.2649A>C (p.Gly883=)
c.2907A>C (p.Gly969=)
c.2865A>C (p.Gly955=)
c.2730A>C (p.Gly910=)
c.2862A>C (p.Gly954=)
n.329+3147T>G
6g.33443459A>GCA450104121SYNGAP1,SYNGAP1-AS1c.2649A>G (p.Gly883=)
c.2907A>G (p.Gly969=)
c.2865A>G (p.Gly955=)
c.2730A>G (p.Gly910=)
c.2862A>G (p.Gly954=)
n.329+3147T>C
6g.33443459A>TCA450104122SYNGAP1,SYNGAP1-AS1c.2649A>T (p.Gly883=)
c.2907A>T (p.Gly969=)
c.2865A>T (p.Gly955=)
c.2730A>T (p.Gly910=)
c.2862A>T (p.Gly954=)
n.329+3147T>A
6g.33443460G>ACA363629493SYNGAP1,SYNGAP1-AS1c.2650G>A (p.Glu884Lys)
c.2908G>A (p.Glu970Lys)
c.2866G>A (p.Glu956Lys)
c.2731G>A (p.Glu911Lys)
c.2863G>A (p.Glu955Lys)
n.329+3146C>T
6g.33443460G>CCA3758963SYNGAP1,SYNGAP1-AS1c.2650G>C (p.Glu884Gln)
c.2908G>C (p.Glu970Gln)
c.2866G>C (p.Glu956Gln)
c.2731G>C (p.Glu911Gln)
c.2863G>C (p.Glu955Gln)
n.329+3146C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.33443460G=CA1620014647SYNGAP1,SYNGAP1-AS1c.2650G= (p.Glu884=)
c.2908G= (p.Glu970=)
c.2866G= (p.Glu956=)
c.2731G= (p.Glu911=)
c.2863G= (p.Glu955=)
n.329+3146C=
6g.33443460G>TCA363629507SYNGAP1,SYNGAP1-AS1c.2650G>T (p.Glu884Ter)
c.2908G>T (p.Glu970Ter)
c.2866G>T (p.Glu956Ter)
c.2731G>T (p.Glu911Ter)
c.2863G>T (p.Glu955Ter)
n.329+3146C>A
6g.33443461A>CCA363629512SYNGAP1,SYNGAP1-AS1c.2651A>C (p.Glu884Ala)
c.2909A>C (p.Glu970Ala)
c.2867A>C (p.Glu956Ala)
c.2732A>C (p.Glu911Ala)
c.2864A>C (p.Glu955Ala)
n.329+3145T>G
6g.33443461A>GCA363629514SYNGAP1,SYNGAP1-AS1c.2651A>G (p.Glu884Gly)
c.2909A>G (p.Glu970Gly)
c.2867A>G (p.Glu956Gly)
c.2732A>G (p.Glu911Gly)
c.2864A>G (p.Glu955Gly)
n.329+3145T>C
 ClinVar
6g.33443461A>TCA363629515SYNGAP1,SYNGAP1-AS1c.2651A>T (p.Glu884Val)
c.2909A>T (p.Glu970Val)
c.2867A>T (p.Glu956Val)
c.2732A>T (p.Glu911Val)
c.2864A>T (p.Glu955Val)
n.329+3145T>A
6g.33443462G>ACA16611905SYNGAP1,SYNGAP1-AS1c.2652G>A (p.Glu884=)
c.2910G>A (p.Glu970=)
c.2868G>A (p.Glu956=)
c.2733G>A (p.Glu911=)
c.2865G>A (p.Glu955=)
n.329+3144C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
6g.33443462G>CCA363629517SYNGAP1,SYNGAP1-AS1c.2652G>C (p.Glu884Asp)
c.2910G>C (p.Glu970Asp)
c.2868G>C (p.Glu956Asp)
c.2733G>C (p.Glu911Asp)
c.2865G>C (p.Glu955Asp)
n.329+3144C>G
6g.33443462G=CA1620014648SYNGAP1,SYNGAP1-AS1c.2652G= (p.Glu884=)
c.2910G= (p.Glu970=)
c.2868G= (p.Glu956=)
c.2733G= (p.Glu911=)
c.2865G= (p.Glu955=)
n.329+3144C=
6g.33443462G>TCA363629518SYNGAP1,SYNGAP1-AS1c.2652G>T (p.Glu884Asp)
c.2910G>T (p.Glu970Asp)
c.2868G>T (p.Glu956Asp)
c.2733G>T (p.Glu911Asp)
c.2865G>T (p.Glu955Asp)
n.329+3144C>A
6g.33443463C>ACA363629521SYNGAP1,SYNGAP1-AS1c.2653C>A (p.Pro885Thr)
c.2911C>A (p.Pro971Thr)
c.2869C>A (p.Pro957Thr)
c.2734C>A (p.Pro912Thr)
c.2866C>A (p.Pro956Thr)
n.329+3143G>T
6g.33443463C>GCA363629531SYNGAP1,SYNGAP1-AS1c.2653C>G (p.Pro885Ala)
c.2911C>G (p.Pro971Ala)
c.2869C>G (p.Pro957Ala)
c.2734C>G (p.Pro912Ala)
c.2866C>G (p.Pro956Ala)
n.329+3143G>C
6g.33443463C>TCA363629523SYNGAP1,SYNGAP1-AS1c.2653C>T (p.Pro885Ser)
c.2911C>T (p.Pro971Ser)
c.2869C>T (p.Pro957Ser)
c.2734C>T (p.Pro912Ser)
c.2866C>T (p.Pro956Ser)
n.329+3143G>A
 gnomAD v4
6g.33443467dupCA566700709SYNGAP1,SYNGAP1-AS1c.2657dup (p.Gly887TrpfsTer11)
c.2915dup (p.Gly973TrpfsTer11)
c.2873dup (p.Gly959TrpfsTer11)
c.2738dup (p.Gly914TrpfsTer11)
c.2870dup (p.Gly958TrpfsTer11)
n.329+3143dup
 dbSNP gnomAD v2 gnomAD v4
6g.33443464C>ACA363629538SYNGAP1,SYNGAP1-AS1c.2654C>A (p.Pro885His)
c.2912C>A (p.Pro971His)
c.2870C>A (p.Pro957His)
c.2735C>A (p.Pro912His)
c.2867C>A (p.Pro956His)
n.329+3142G>T
 dbSNP gnomAD v3 gnomAD v4
6g.33443464C=CA1620014649SYNGAP1,SYNGAP1-AS1c.2654C= (p.Pro885=)
c.2912C= (p.Pro971=)
c.2870C= (p.Pro957=)
c.2735C= (p.Pro912=)
c.2867C= (p.Pro956=)
n.329+3142G=
6g.33443464C>GCA363629540SYNGAP1,SYNGAP1-AS1c.2654C>G (p.Pro885Arg)
c.2912C>G (p.Pro971Arg)
c.2870C>G (p.Pro957Arg)
c.2735C>G (p.Pro912Arg)
c.2867C>G (p.Pro956Arg)
n.329+3142G>C
6g.33443464C>TCA363629539SYNGAP1,SYNGAP1-AS1c.2654C>T (p.Pro885Leu)
c.2912C>T (p.Pro971Leu)
c.2870C>T (p.Pro957Leu)
c.2735C>T (p.Pro912Leu)
c.2867C>T (p.Pro956Leu)
n.329+3142G>A
6g.33443465C>ACA450104123SYNGAP1,SYNGAP1-AS1c.2655C>A (p.Pro885=)
c.2913C>A (p.Pro971=)
c.2871C>A (p.Pro957=)
c.2736C>A (p.Pro912=)
c.2868C>A (p.Pro956=)
n.329+3141G>T
 gnomAD v4
6g.33443465C>GCA450104125SYNGAP1,SYNGAP1-AS1c.2655C>G (p.Pro885=)
c.2913C>G (p.Pro971=)
c.2871C>G (p.Pro957=)
c.2736C>G (p.Pro912=)
c.2868C>G (p.Pro956=)
n.329+3141G>C
6g.33443465C>TCA450104124SYNGAP1,SYNGAP1-AS1c.2655C>T (p.Pro885=)
c.2913C>T (p.Pro971=)
c.2871C>T (p.Pro957=)
c.2736C>T (p.Pro912=)
c.2868C>T (p.Pro956=)
n.329+3141G>A
6g.33443466C>ACA363629541SYNGAP1,SYNGAP1-AS1c.2656C>A (p.Pro886Thr)
c.2914C>A (p.Pro972Thr)
c.2872C>A (p.Pro958Thr)
c.2737C>A (p.Pro913Thr)
c.2869C>A (p.Pro957Thr)
n.329+3140G>T
6g.33443466C=CA1620014650SYNGAP1,SYNGAP1-AS1c.2656C= (p.Pro886=)
c.2914C= (p.Pro972=)
c.2872C= (p.Pro958=)
c.2737C= (p.Pro913=)
c.2869C= (p.Pro957=)
n.329+3140G=
6g.33443466C>GCA363629545SYNGAP1,SYNGAP1-AS1c.2656C>G (p.Pro886Ala)
c.2914C>G (p.Pro972Ala)
c.2872C>G (p.Pro958Ala)
c.2737C>G (p.Pro913Ala)
c.2869C>G (p.Pro957Ala)
n.329+3140G>C
 ClinVar gnomAD v4
6g.33443466C>TCA363629546SYNGAP1,SYNGAP1-AS1c.2656C>T (p.Pro886Ser)
c.2914C>T (p.Pro972Ser)
c.2872C>T (p.Pro958Ser)
c.2737C>T (p.Pro913Ser)
c.2869C>T (p.Pro957Ser)
n.329+3140G>A
 dbSNP gnomAD v3 gnomAD v4
6g.33443466_33443467delinsTTCA645559126SYNGAP1,SYNGAP1-AS1c.2656_2657delinsTT (p.Pro886Phe)
c.2914_2915delinsTT (p.Pro972Phe)
c.2872_2873delinsTT (p.Pro958Phe)
c.2737_2738delinsTT (p.Pro913Phe)
c.2869_2870delinsTT (p.Pro957Phe)
n.329+3139_329+3140delinsAA
 COSMIC COSMIC
6g.33443467C>ACA363629551SYNGAP1,SYNGAP1-AS1c.2657C>A (p.Pro886His)
c.2915C>A (p.Pro972His)
c.2873C>A (p.Pro958His)
c.2738C>A (p.Pro913His)
c.2870C>A (p.Pro957His)
n.329+3139G>T
6g.33443467C>GCA363629552SYNGAP1,SYNGAP1-AS1c.2657C>G (p.Pro886Arg)
c.2915C>G (p.Pro972Arg)
c.2873C>G (p.Pro958Arg)
c.2738C>G (p.Pro913Arg)
c.2870C>G (p.Pro957Arg)
n.329+3139G>C
 gnomAD v3 gnomAD v4
6g.33443467C>TCA363629553SYNGAP1,SYNGAP1-AS1c.2657C>T (p.Pro886Leu)
c.2915C>T (p.Pro972Leu)
c.2873C>T (p.Pro958Leu)
c.2738C>T (p.Pro913Leu)
c.2870C>T (p.Pro957Leu)
n.329+3139G>A
6g.33443467_33443468delinsCTCA1620014651SYNGAP1,SYNGAP1-AS1c.2657_2658delinsCT (p.Pro886=)
c.2915_2916delinsCT (p.Pro972=)
c.2873_2874delinsCT (p.Pro958=)
c.2738_2739delinsCT (p.Pro913=)
c.2870_2871delinsCT (p.Pro957=)
n.329+3138_329+3139delinsAG
6g.33443468delCA16618282SYNGAP1,SYNGAP1-AS1c.2658del (p.Asp888ThrfsTer?)
c.2916del (p.Asp974ThrfsTer?)
c.2874del (p.Asp960ThrfsTer?)
c.2739del (p.Asp915ThrfsTer?)
c.2871del (p.Asp959ThrfsTer?)
n.329+3138del
 ClinVar dbSNP
6g.33443468T>ACA450104126SYNGAP1,SYNGAP1-AS1c.2658T>A (p.Pro886=)
c.2916T>A (p.Pro972=)
c.2874T>A (p.Pro958=)
c.2739T>A (p.Pro913=)
c.2871T>A (p.Pro957=)
n.329+3138A>T
6g.33443468T>CCA450104127SYNGAP1,SYNGAP1-AS1c.2658T>C (p.Pro886=)
c.2916T>C (p.Pro972=)
c.2874T>C (p.Pro958=)
c.2739T>C (p.Pro913=)
c.2871T>C (p.Pro957=)
n.329+3138A>G
6g.33443468T>GCA450104128SYNGAP1,SYNGAP1-AS1c.2658T>G (p.Pro886=)
c.2916T>G (p.Pro972=)
c.2874T>G (p.Pro958=)
c.2739T>G (p.Pro913=)
c.2871T>G (p.Pro957=)
n.329+3138A>C
6g.33443469G>ACA363629554SYNGAP1,SYNGAP1-AS1c.2659G>A (p.Gly887Arg)
c.2917G>A (p.Gly973Arg)
c.2875G>A (p.Gly959Arg)
c.2740G>A (p.Gly914Arg)
c.2872G>A (p.Gly958Arg)
n.329+3137C>T
6g.33443469G>CCA363629555SYNGAP1,SYNGAP1-AS1c.2659G>C (p.Gly887Arg)
c.2917G>C (p.Gly973Arg)
c.2875G>C (p.Gly959Arg)
c.2740G>C (p.Gly914Arg)
c.2872G>C (p.Gly958Arg)
n.329+3137C>G
6g.33443469G>TCA363629559SYNGAP1,SYNGAP1-AS1c.2659G>T (p.Gly887Trp)
c.2917G>T (p.Gly973Trp)
c.2875G>T (p.Gly959Trp)
c.2740G>T (p.Gly914Trp)
c.2872G>T (p.Gly958Trp)
n.329+3137C>A
6g.33443470G>ACA363629576SYNGAP1,SYNGAP1-AS1c.2660G>A (p.Gly887Glu)
c.2918G>A (p.Gly973Glu)
c.2876G>A (p.Gly959Glu)
c.2741G>A (p.Gly914Glu)
c.2873G>A (p.Gly958Glu)
n.329+3136C>T
6g.33443470G>CCA363629575SYNGAP1,SYNGAP1-AS1c.2660G>C (p.Gly887Ala)
c.2918G>C (p.Gly973Ala)
c.2876G>C (p.Gly959Ala)
c.2741G>C (p.Gly914Ala)
c.2873G>C (p.Gly958Ala)
n.329+3136C>G
 gnomAD v4
6g.33443470G>TCA363629571SYNGAP1,SYNGAP1-AS1c.2660G>T (p.Gly887Val)
c.2918G>T (p.Gly973Val)
c.2876G>T (p.Gly959Val)
c.2741G>T (p.Gly914Val)
c.2873G>T (p.Gly958Val)
n.329+3136C>A

Number of alleles fetched