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.33443368C>ACA363628677SYNGAP1,SYNGAP1-AS1c.2558C>A (p.Pro853Gln)
c.2816C>A (p.Pro939Gln)
c.2774C>A (p.Pro925Gln)
c.2639C>A (p.Pro880Gln)
c.2771C>A (p.Pro924Gln)
n.329+3238G>T
6g.33443368C>GCA363628680SYNGAP1,SYNGAP1-AS1c.2558C>G (p.Pro853Arg)
c.2816C>G (p.Pro939Arg)
c.2774C>G (p.Pro925Arg)
c.2639C>G (p.Pro880Arg)
c.2771C>G (p.Pro924Arg)
n.329+3238G>C
 gnomAD v4
6g.33443368C>TCA363628682SYNGAP1,SYNGAP1-AS1c.2558C>T (p.Pro853Leu)
c.2816C>T (p.Pro939Leu)
c.2774C>T (p.Pro925Leu)
c.2639C>T (p.Pro880Leu)
c.2771C>T (p.Pro924Leu)
n.329+3238G>A
6g.33443369A>CCA450104058SYNGAP1,SYNGAP1-AS1c.2559A>C (p.Pro853=)
c.2817A>C (p.Pro939=)
c.2775A>C (p.Pro925=)
c.2640A>C (p.Pro880=)
c.2772A>C (p.Pro924=)
n.329+3237T>G
6g.33443369A>GCA450104059SYNGAP1,SYNGAP1-AS1c.2559A>G (p.Pro853=)
c.2817A>G (p.Pro939=)
c.2775A>G (p.Pro925=)
c.2640A>G (p.Pro880=)
c.2772A>G (p.Pro924=)
n.329+3237T>C
6g.33443369A>TCA450104060SYNGAP1,SYNGAP1-AS1c.2559A>T (p.Pro853=)
c.2817A>T (p.Pro939=)
c.2775A>T (p.Pro925=)
c.2640A>T (p.Pro880=)
c.2772A>T (p.Pro924=)
n.329+3237T>A
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=

Number of alleles fetched