Chr Mutation (hg38) CAid Gene Transcript Linkouts
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.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.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.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.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.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.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.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
6g.33443471G>ACA450104130SYNGAP1,SYNGAP1-AS1c.2661G>A (p.Gly887=)
c.2919G>A (p.Gly973=)
c.2877G>A (p.Gly959=)
c.2742G>A (p.Gly914=)
c.2874G>A (p.Gly958=)
n.329+3135C>T
 gnomAD v4
6g.33443471G>CCA450104131SYNGAP1,SYNGAP1-AS1c.2661G>C (p.Gly887=)
c.2919G>C (p.Gly973=)
c.2877G>C (p.Gly959=)
c.2742G>C (p.Gly914=)
c.2874G>C (p.Gly958=)
n.329+3135C>G
6g.33443471G>TCA450104132SYNGAP1,SYNGAP1-AS1c.2661G>T (p.Gly887=)
c.2919G>T (p.Gly973=)
c.2877G>T (p.Gly959=)
c.2742G>T (p.Gly914=)
c.2874G>T (p.Gly958=)
n.329+3135C>A
6g.33443472G>ACA363629577SYNGAP1,SYNGAP1-AS1c.2662G>A (p.Asp888Asn)
c.2920G>A (p.Asp974Asn)
c.2878G>A (p.Asp960Asn)
c.2743G>A (p.Asp915Asn)
c.2875G>A (p.Asp959Asn)
n.329+3134C>T
 COSMIC COSMIC
6g.33443472G>CCA363629578SYNGAP1,SYNGAP1-AS1c.2662G>C (p.Asp888His)
c.2920G>C (p.Asp974His)
c.2878G>C (p.Asp960His)
c.2743G>C (p.Asp915His)
c.2875G>C (p.Asp959His)
n.329+3134C>G
6g.33443472G>TCA363629582SYNGAP1,SYNGAP1-AS1c.2662G>T (p.Asp888Tyr)
c.2920G>T (p.Asp974Tyr)
c.2878G>T (p.Asp960Tyr)
c.2743G>T (p.Asp915Tyr)
c.2875G>T (p.Asp959Tyr)
n.329+3134C>A
6g.33443473A>CCA363629603SYNGAP1,SYNGAP1-AS1c.2663A>C (p.Asp888Ala)
c.2921A>C (p.Asp974Ala)
c.2879A>C (p.Asp960Ala)
c.2744A>C (p.Asp915Ala)
c.2876A>C (p.Asp959Ala)
n.329+3133T>G
6g.33443473A>GCA363629607SYNGAP1,SYNGAP1-AS1c.2663A>G (p.Asp888Gly)
c.2921A>G (p.Asp974Gly)
c.2879A>G (p.Asp960Gly)
c.2744A>G (p.Asp915Gly)
c.2876A>G (p.Asp959Gly)
n.329+3133T>C
6g.33443473A>TCA363629609SYNGAP1,SYNGAP1-AS1c.2663A>T (p.Asp888Val)
c.2921A>T (p.Asp974Val)
c.2879A>T (p.Asp960Val)
c.2744A>T (p.Asp915Val)
c.2876A>T (p.Asp959Val)
n.329+3133T>A
6g.33443474C>ACA363629611SYNGAP1,SYNGAP1-AS1c.2664C>A (p.Asp888Glu)
c.2922C>A (p.Asp974Glu)
c.2880C>A (p.Asp960Glu)
c.2745C>A (p.Asp915Glu)
c.2877C>A (p.Asp959Glu)
n.329+3132G>T
 COSMIC COSMIC
6g.33443474C=CA1620014652SYNGAP1,SYNGAP1-AS1c.2664C= (p.Asp888=)
c.2922C= (p.Asp974=)
c.2880C= (p.Asp960=)
c.2745C= (p.Asp915=)
c.2877C= (p.Asp959=)
n.329+3132G=
6g.33443474C>GCA363629613SYNGAP1,SYNGAP1-AS1c.2664C>G (p.Asp888Glu)
c.2922C>G (p.Asp974Glu)
c.2880C>G (p.Asp960Glu)
c.2745C>G (p.Asp915Glu)
c.2877C>G (p.Asp959Glu)
n.329+3132G>C
6g.33443474C>TCA450104136SYNGAP1,SYNGAP1-AS1c.2664C>T (p.Asp888=)
c.2922C>T (p.Asp974=)
c.2880C>T (p.Asp960=)
c.2745C>T (p.Asp915=)
c.2877C>T (p.Asp959=)
n.329+3132G>A
 dbSNP gnomAD v2 gnomAD v4
6g.33443475A>CCA363629618SYNGAP1,SYNGAP1-AS1c.2665A>C (p.Thr889Pro)
c.2923A>C (p.Thr975Pro)
c.2881A>C (p.Thr961Pro)
c.2746A>C (p.Thr916Pro)
c.2878A>C (p.Thr960Pro)
n.329+3131T>G
6g.33443475A>GCA363629621SYNGAP1,SYNGAP1-AS1c.2665A>G (p.Thr889Ala)
c.2923A>G (p.Thr975Ala)
c.2881A>G (p.Thr961Ala)
c.2746A>G (p.Thr916Ala)
c.2878A>G (p.Thr960Ala)
n.329+3131T>C
6g.33443475A>TCA363629626SYNGAP1,SYNGAP1-AS1c.2665A>T (p.Thr889Ser)
c.2923A>T (p.Thr975Ser)
c.2881A>T (p.Thr961Ser)
c.2746A>T (p.Thr916Ser)
c.2878A>T (p.Thr960Ser)
n.329+3131T>A
6g.33443476C>ACA3758964SYNGAP1,SYNGAP1-AS1c.2666C>A (p.Thr889Asn)
c.2924C>A (p.Thr975Asn)
c.2882C>A (p.Thr961Asn)
c.2747C>A (p.Thr916Asn)
c.2879C>A (p.Thr960Asn)
n.329+3130G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6g.33443476C=CA1620014653SYNGAP1,SYNGAP1-AS1c.2666C= (p.Thr889=)
c.2924C= (p.Thr975=)
c.2882C= (p.Thr961=)
c.2747C= (p.Thr916=)
c.2879C= (p.Thr960=)
n.329+3130G=
6g.33443476C>GCA363629632SYNGAP1,SYNGAP1-AS1c.2666C>G (p.Thr889Ser)
c.2924C>G (p.Thr975Ser)
c.2882C>G (p.Thr961Ser)
c.2747C>G (p.Thr916Ser)
c.2879C>G (p.Thr960Ser)
n.329+3130G>C
6g.33443476C>TCA3758965SYNGAP1,SYNGAP1-AS1c.2666C>T (p.Thr889Ile)
c.2924C>T (p.Thr975Ile)
c.2882C>T (p.Thr961Ile)
c.2747C>T (p.Thr916Ile)
c.2879C>T (p.Thr960Ile)
n.329+3130G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.33443477C>ACA450104140SYNGAP1,SYNGAP1-AS1c.2667C>A (p.Thr889=)
c.2925C>A (p.Thr975=)
c.2883C>A (p.Thr961=)
c.2748C>A (p.Thr916=)
c.2880C>A (p.Thr960=)
n.329+3129G>T
 gnomAD v4
6g.33443477C>GCA450104141SYNGAP1,SYNGAP1-AS1c.2667C>G (p.Thr889=)
c.2925C>G (p.Thr975=)
c.2883C>G (p.Thr961=)
c.2748C>G (p.Thr916=)
c.2880C>G (p.Thr960=)
n.329+3129G>C
6g.33443477C>TCA450104142SYNGAP1,SYNGAP1-AS1c.2667C>T (p.Thr889=)
c.2925C>T (p.Thr975=)
c.2883C>T (p.Thr961=)
c.2748C>T (p.Thr916=)
c.2880C>T (p.Thr960=)
n.329+3129G>A
 gnomAD v4
6g.33443478T>ACA363629635SYNGAP1,SYNGAP1-AS1c.2668T>A (p.Phe890Ile)
c.2926T>A (p.Phe976Ile)
c.2884T>A (p.Phe962Ile)
c.2749T>A (p.Phe917Ile)
c.2881T>A (p.Phe961Ile)
n.329+3128A>T
6g.33443478T>CCA363629640SYNGAP1,SYNGAP1-AS1c.2668T>C (p.Phe890Leu)
c.2926T>C (p.Phe976Leu)
c.2884T>C (p.Phe962Leu)
c.2749T>C (p.Phe917Leu)
c.2881T>C (p.Phe961Leu)
n.329+3128A>G
6g.33443478T>GCA363629642SYNGAP1,SYNGAP1-AS1c.2668T>G (p.Phe890Val)
c.2926T>G (p.Phe976Val)
c.2884T>G (p.Phe962Val)
c.2749T>G (p.Phe917Val)
c.2881T>G (p.Phe961Val)
n.329+3128A>C
6g.33443479T>ACA363629648SYNGAP1,SYNGAP1-AS1c.2669T>A (p.Phe890Tyr)
c.2927T>A (p.Phe976Tyr)
c.2885T>A (p.Phe962Tyr)
c.2750T>A (p.Phe917Tyr)
c.2882T>A (p.Phe961Tyr)
n.329+3127A>T
6g.33443479T>CCA363629652SYNGAP1,SYNGAP1-AS1c.2669T>C (p.Phe890Ser)
c.2927T>C (p.Phe976Ser)
c.2885T>C (p.Phe962Ser)
c.2750T>C (p.Phe917Ser)
c.2882T>C (p.Phe961Ser)
n.329+3127A>G
6g.33443479T>GCA363629659SYNGAP1,SYNGAP1-AS1c.2669T>G (p.Phe890Cys)
c.2927T>G (p.Phe976Cys)
c.2885T>G (p.Phe962Cys)
c.2750T>G (p.Phe917Cys)
c.2882T>G (p.Phe961Cys)
n.329+3127A>C
6g.33443480T>ACA363629662SYNGAP1,SYNGAP1-AS1c.2670T>A (p.Phe890Leu)
c.2928T>A (p.Phe976Leu)
c.2886T>A (p.Phe962Leu)
c.2751T>A (p.Phe917Leu)
c.2883T>A (p.Phe961Leu)
n.329+3126A>T
 gnomAD v4
6g.33443480T>CCA450104146SYNGAP1,SYNGAP1-AS1c.2670T>C (p.Phe890=)
c.2928T>C (p.Phe976=)
c.2886T>C (p.Phe962=)
c.2751T>C (p.Phe917=)
c.2883T>C (p.Phe961=)
n.329+3126A>G
6g.33443480T>GCA363629663SYNGAP1,SYNGAP1-AS1c.2670T>G (p.Phe890Leu)
c.2928T>G (p.Phe976Leu)
c.2886T>G (p.Phe962Leu)
c.2751T>G (p.Phe917Leu)
c.2883T>G (p.Phe961Leu)
n.329+3126A>C
 ClinVar dbSNP
6g.33443480T=CA1620014654SYNGAP1,SYNGAP1-AS1c.2670T= (p.Phe890=)
c.2928T= (p.Phe976=)
c.2886T= (p.Phe962=)
c.2751T= (p.Phe917=)
c.2883T= (p.Phe961=)
n.329+3126A=
6g.33443481G>ACA363629664SYNGAP1,SYNGAP1-AS1c.2671G>A (p.Ala891Thr)
c.2929G>A (p.Ala977Thr)
c.2887G>A (p.Ala963Thr)
c.2752G>A (p.Ala918Thr)
c.2884G>A (p.Ala962Thr)
n.329+3125C>T
6g.33443481G>CCA363629665SYNGAP1,SYNGAP1-AS1c.2671G>C (p.Ala891Pro)
c.2929G>C (p.Ala977Pro)
c.2887G>C (p.Ala963Pro)
c.2752G>C (p.Ala918Pro)
c.2884G>C (p.Ala962Pro)
n.329+3125C>G
6g.33443481G>TCA363629666SYNGAP1,SYNGAP1-AS1c.2671G>T (p.Ala891Ser)
c.2929G>T (p.Ala977Ser)
c.2887G>T (p.Ala963Ser)
c.2752G>T (p.Ala918Ser)
c.2884G>T (p.Ala962Ser)
n.329+3125C>A
6g.33443482C>ACA363629668SYNGAP1,SYNGAP1-AS1c.2672C>A (p.Ala891Asp)
c.2930C>A (p.Ala977Asp)
c.2888C>A (p.Ala963Asp)
c.2753C>A (p.Ala918Asp)
c.2885C>A (p.Ala962Asp)
n.329+3124G>T
6g.33443482C>GCA363629670SYNGAP1,SYNGAP1-AS1c.2672C>G (p.Ala891Gly)
c.2930C>G (p.Ala977Gly)
c.2888C>G (p.Ala963Gly)
c.2753C>G (p.Ala918Gly)
c.2885C>G (p.Ala962Gly)
n.329+3124G>C
6g.33443482C>TCA363629667SYNGAP1,SYNGAP1-AS1c.2672C>T (p.Ala891Val)
c.2930C>T (p.Ala977Val)
c.2888C>T (p.Ala963Val)
c.2753C>T (p.Ala918Val)
c.2885C>T (p.Ala962Val)
n.329+3124G>A
6g.33443485dupCA450104149SYNGAP1,SYNGAP1-AS1c.2675dup (p.Phe893IlefsTer5)
c.2933dup (p.Phe979IlefsTer5)
c.2891dup (p.Phe965IlefsTer5)
c.2756dup (p.Phe920IlefsTer5)
c.2888dup (p.Phe964IlefsTer5)
n.329+3124dup
 COSMIC COSMIC
6g.33443485delCA2695206222SYNGAP1,SYNGAP1-AS1c.2675del (p.Pro892HisfsTer?)
c.2933del (p.Pro978HisfsTer?)
c.2891del (p.Pro964HisfsTer?)
c.2756del (p.Pro919HisfsTer?)
c.2888del (p.Pro963HisfsTer?)
n.329+3124del
6g.33443483C>ACA450104150SYNGAP1,SYNGAP1-AS1c.2673C>A (p.Ala891=)
c.2931C>A (p.Ala977=)
c.2889C>A (p.Ala963=)
c.2754C>A (p.Ala918=)
c.2886C>A (p.Ala962=)
n.329+3123G>T
6g.33443483C>GCA450104151SYNGAP1,SYNGAP1-AS1c.2673C>G (p.Ala891=)
c.2931C>G (p.Ala977=)
c.2889C>G (p.Ala963=)
c.2754C>G (p.Ala918=)
c.2886C>G (p.Ala962=)
n.329+3123G>C
6g.33443483C>TCA450104152SYNGAP1,SYNGAP1-AS1c.2673C>T (p.Ala891=)
c.2931C>T (p.Ala977=)
c.2889C>T (p.Ala963=)
c.2754C>T (p.Ala918=)
c.2886C>T (p.Ala962=)
n.329+3123G>A
6g.33443484C>ACA363629672SYNGAP1,SYNGAP1-AS1c.2674C>A (p.Pro892Thr)
c.2932C>A (p.Pro978Thr)
c.2890C>A (p.Pro964Thr)
c.2755C>A (p.Pro919Thr)
c.2887C>A (p.Pro963Thr)
n.329+3122G>T
6g.33443484C>GCA363629673SYNGAP1,SYNGAP1-AS1c.2674C>G (p.Pro892Ala)
c.2932C>G (p.Pro978Ala)
c.2890C>G (p.Pro964Ala)
c.2755C>G (p.Pro919Ala)
c.2887C>G (p.Pro963Ala)
n.329+3122G>C
6g.33443484C>TCA363629675SYNGAP1,SYNGAP1-AS1c.2674C>T (p.Pro892Ser)
c.2932C>T (p.Pro978Ser)
c.2890C>T (p.Pro964Ser)
c.2755C>T (p.Pro919Ser)
c.2887C>T (p.Pro963Ser)
n.329+3122G>A
6g.33443485C>ACA363629684SYNGAP1,SYNGAP1-AS1c.2675C>A (p.Pro892Gln)
c.2933C>A (p.Pro978Gln)
c.2891C>A (p.Pro964Gln)
c.2756C>A (p.Pro919Gln)
c.2888C>A (p.Pro963Gln)
n.329+3121G>T
6g.33443485C>GCA363629691SYNGAP1,SYNGAP1-AS1c.2675C>G (p.Pro892Arg)
c.2933C>G (p.Pro978Arg)
c.2891C>G (p.Pro964Arg)
c.2756C>G (p.Pro919Arg)
c.2888C>G (p.Pro963Arg)
n.329+3121G>C
6g.33443485C>TCA363629692SYNGAP1,SYNGAP1-AS1c.2675C>T (p.Pro892Leu)
c.2933C>T (p.Pro978Leu)
c.2891C>T (p.Pro964Leu)
c.2756C>T (p.Pro919Leu)
c.2888C>T (p.Pro963Leu)
n.329+3121G>A
6g.33443486A=CA1620014655SYNGAP1,SYNGAP1-AS1c.2676A= (p.Pro892=)
c.2934A= (p.Pro978=)
c.2892A= (p.Pro964=)
c.2757A= (p.Pro919=)
c.2889A= (p.Pro963=)
n.329+3120T=
6g.33443486A>CCA450104157SYNGAP1,SYNGAP1-AS1c.2676A>C (p.Pro892=)
c.2934A>C (p.Pro978=)
c.2892A>C (p.Pro964=)
c.2757A>C (p.Pro919=)
c.2889A>C (p.Pro963=)
n.329+3120T>G
6g.33443486A>GCA137073181SYNGAP1,SYNGAP1-AS1c.2676A>G (p.Pro892=)
c.2934A>G (p.Pro978=)
c.2892A>G (p.Pro964=)
c.2757A>G (p.Pro919=)
c.2889A>G (p.Pro963=)
n.329+3120T>C
 dbSNP gnomAD v4
6g.33443486A>TCA450104156SYNGAP1,SYNGAP1-AS1c.2676A>T (p.Pro892=)
c.2934A>T (p.Pro978=)
c.2892A>T (p.Pro964=)
c.2757A>T (p.Pro919=)
c.2889A>T (p.Pro963=)
n.329+3120T>A
6g.33443487T>ACA363629694SYNGAP1,SYNGAP1-AS1c.2677T>A (p.Phe893Ile)
c.2935T>A (p.Phe979Ile)
c.2893T>A (p.Phe965Ile)
c.2758T>A (p.Phe920Ile)
c.2890T>A (p.Phe964Ile)
n.329+3119A>T
6g.33443487T>CCA363629700SYNGAP1,SYNGAP1-AS1c.2677T>C (p.Phe893Leu)
c.2935T>C (p.Phe979Leu)
c.2893T>C (p.Phe965Leu)
c.2758T>C (p.Phe920Leu)
c.2890T>C (p.Phe964Leu)
n.329+3119A>G
 ClinVar dbSNP
6g.33443487T>GCA363629697SYNGAP1,SYNGAP1-AS1c.2677T>G (p.Phe893Val)
c.2935T>G (p.Phe979Val)
c.2893T>G (p.Phe965Val)
c.2758T>G (p.Phe920Val)
c.2890T>G (p.Phe964Val)
n.329+3119A>C
6g.33443487T=CA1620014656SYNGAP1,SYNGAP1-AS1c.2677T= (p.Phe893=)
c.2935T= (p.Phe979=)
c.2893T= (p.Phe965=)
c.2758T= (p.Phe920=)
c.2890T= (p.Phe964=)
n.329+3119A=
6g.33443488T>ACA363629704SYNGAP1,SYNGAP1-AS1c.2678T>A (p.Phe893Tyr)
c.2936T>A (p.Phe979Tyr)
c.2894T>A (p.Phe965Tyr)
c.2759T>A (p.Phe920Tyr)
c.2891T>A (p.Phe964Tyr)
n.329+3118A>T
6g.33443488T>CCA363629724SYNGAP1,SYNGAP1-AS1c.2678T>C (p.Phe893Ser)
c.2936T>C (p.Phe979Ser)
c.2894T>C (p.Phe965Ser)
c.2759T>C (p.Phe920Ser)
c.2891T>C (p.Phe964Ser)
n.329+3118A>G
6g.33443488T>GCA363629728SYNGAP1,SYNGAP1-AS1c.2678T>G (p.Phe893Cys)
c.2936T>G (p.Phe979Cys)
c.2894T>G (p.Phe965Cys)
c.2759T>G (p.Phe920Cys)
c.2891T>G (p.Phe964Cys)
n.329+3118A>C
6g.33443488_33443490delinsCACA2695206223SYNGAP1,SYNGAP1-AS1c.2678_2680delinsCA (p.Phe893SerfsTer?)
c.2936_2938delinsCA (p.Phe979SerfsTer?)
c.2894_2896delinsCA (p.Phe965SerfsTer?)
c.2759_2761delinsCA (p.Phe920SerfsTer?)
c.2891_2893delinsCA (p.Phe964SerfsTer?)
n.329+3116_329+3118delinsTG
6g.33443489C>ACA363629732SYNGAP1,SYNGAP1-AS1c.2679C>A (p.Phe893Leu)
c.2937C>A (p.Phe979Leu)
c.2895C>A (p.Phe965Leu)
c.2760C>A (p.Phe920Leu)
c.2892C>A (p.Phe964Leu)
n.329+3117G>T
6g.33443489C>GCA363629738SYNGAP1,SYNGAP1-AS1c.2679C>G (p.Phe893Leu)
c.2937C>G (p.Phe979Leu)
c.2895C>G (p.Phe965Leu)
c.2760C>G (p.Phe920Leu)
c.2892C>G (p.Phe964Leu)
n.329+3117G>C
6g.33443489C>TCA450104160SYNGAP1,SYNGAP1-AS1c.2679C>T (p.Phe893=)
c.2937C>T (p.Phe979=)
c.2895C>T (p.Phe965=)
c.2760C>T (p.Phe920=)
c.2892C>T (p.Phe964=)
n.329+3117G>A
 gnomAD v4
6g.33443490C>ACA363629744SYNGAP1,SYNGAP1-AS1c.2680C>A (p.His894Asn)
c.2938C>A (p.His980Asn)
c.2896C>A (p.His966Asn)
c.2761C>A (p.His921Asn)
c.2893C>A (p.His965Asn)
n.329+3116G>T
6g.33443490C>GCA363629749SYNGAP1,SYNGAP1-AS1c.2680C>G (p.His894Asp)
c.2938C>G (p.His980Asp)
c.2896C>G (p.His966Asp)
c.2761C>G (p.His921Asp)
c.2893C>G (p.His965Asp)
n.329+3116G>C
6g.33443490C>TCA363629742SYNGAP1,SYNGAP1-AS1c.2680C>T (p.His894Tyr)
c.2938C>T (p.His980Tyr)
c.2896C>T (p.His966Tyr)
c.2761C>T (p.His921Tyr)
c.2893C>T (p.His965Tyr)
n.329+3116G>A
6g.33443491A>CCA363629757SYNGAP1,SYNGAP1-AS1c.2681A>C (p.His894Pro)
c.2939A>C (p.His980Pro)
c.2897A>C (p.His966Pro)
c.2762A>C (p.His921Pro)
c.2894A>C (p.His965Pro)
n.329+3115T>G
6g.33443491A>GCA363629761SYNGAP1,SYNGAP1-AS1c.2681A>G (p.His894Arg)
c.2939A>G (p.His980Arg)
c.2897A>G (p.His966Arg)
c.2762A>G (p.His921Arg)
c.2894A>G (p.His965Arg)
n.329+3115T>C
 gnomAD v4
6g.33443491A>TCA363629762SYNGAP1,SYNGAP1-AS1c.2681A>T (p.His894Leu)
c.2939A>T (p.His980Leu)
c.2897A>T (p.His966Leu)
c.2762A>T (p.His921Leu)
c.2894A>T (p.His965Leu)
n.329+3115T>A
6g.33443492T>ACA363629765SYNGAP1,SYNGAP1-AS1c.2682T>A (p.His894Gln)
c.2940T>A (p.His980Gln)
c.2898T>A (p.His966Gln)
c.2763T>A (p.His921Gln)
c.2895T>A (p.His965Gln)
n.329+3114A>T
6g.33443492T>CCA450104164SYNGAP1,SYNGAP1-AS1c.2682T>C (p.His894=)
c.2940T>C (p.His980=)
c.2898T>C (p.His966=)
c.2763T>C (p.His921=)
c.2895T>C (p.His965=)
n.329+3114A>G
6g.33443492T>GCA363629766SYNGAP1,SYNGAP1-AS1c.2682T>G (p.His894Gln)
c.2940T>G (p.His980Gln)
c.2898T>G (p.His966Gln)
c.2763T>G (p.His921Gln)
c.2895T>G (p.His965Gln)
n.329+3114A>C
6g.33443493G>ACA363629767SYNGAP1,SYNGAP1-AS1c.2683G>A (p.Gly895Ser)
c.2941G>A (p.Gly981Ser)
c.2899G>A (p.Gly967Ser)
c.2764G>A (p.Gly922Ser)
c.2896G>A (p.Gly966Ser)
n.329+3113C>T
6g.33443493G>CCA363629768SYNGAP1,SYNGAP1-AS1c.2683G>C (p.Gly895Arg)
c.2941G>C (p.Gly981Arg)
c.2899G>C (p.Gly967Arg)
c.2764G>C (p.Gly922Arg)
c.2896G>C (p.Gly966Arg)
n.329+3113C>G
6g.33443493G>TCA363629771SYNGAP1,SYNGAP1-AS1c.2683G>T (p.Gly895Cys)
c.2941G>T (p.Gly981Cys)
c.2899G>T (p.Gly967Cys)
c.2764G>T (p.Gly922Cys)
c.2896G>T (p.Gly966Cys)
n.329+3113C>A
6g.33443494G>ACA137073184SYNGAP1,SYNGAP1-AS1c.2684G>A (p.Gly895Asp)
c.2942G>A (p.Gly981Asp)
c.2900G>A (p.Gly967Asp)
c.2765G>A (p.Gly922Asp)
c.2897G>A (p.Gly966Asp)
n.329+3112C>T
 dbSNP
6g.33443494G>CCA363629778SYNGAP1,SYNGAP1-AS1c.2684G>C (p.Gly895Ala)
c.2942G>C (p.Gly981Ala)
c.2900G>C (p.Gly967Ala)
c.2765G>C (p.Gly922Ala)
c.2897G>C (p.Gly966Ala)
n.329+3112C>G
6g.33443494G=CA1620014657SYNGAP1,SYNGAP1-AS1c.2684G= (p.Gly895=)
c.2942G= (p.Gly981=)
c.2900G= (p.Gly967=)
c.2765G= (p.Gly922=)
c.2897G= (p.Gly966=)
n.329+3112C=
6g.33443494G>TCA363629779SYNGAP1,SYNGAP1-AS1c.2684G>T (p.Gly895Val)
c.2942G>T (p.Gly981Val)
c.2900G>T (p.Gly967Val)
c.2765G>T (p.Gly922Val)
c.2897G>T (p.Gly966Val)
n.329+3112C>A
6g.33443495C>ACA450104166SYNGAP1,SYNGAP1-AS1c.2685C>A (p.Gly895=)
c.2943C>A (p.Gly981=)
c.2901C>A (p.Gly967=)
c.2766C>A (p.Gly922=)
c.2898C>A (p.Gly966=)
n.329+3111G>T
6g.33443495C=CA1620014658SYNGAP1,SYNGAP1-AS1c.2685C= (p.Gly895=)
c.2943C= (p.Gly981=)
c.2901C= (p.Gly967=)
c.2766C= (p.Gly922=)
c.2898C= (p.Gly966=)
n.329+3111G=
6g.33443495C>GCA450104167SYNGAP1,SYNGAP1-AS1c.2685C>G (p.Gly895=)
c.2943C>G (p.Gly981=)
c.2901C>G (p.Gly967=)
c.2766C>G (p.Gly922=)
c.2898C>G (p.Gly966=)
n.329+3111G>C
 gnomAD v4
6g.33443495C>TCA3758966SYNGAP1,SYNGAP1-AS1c.2685C>T (p.Gly895=)
c.2943C>T (p.Gly981=)
c.2901C>T (p.Gly967=)
c.2766C>T (p.Gly922=)
c.2898C>T (p.Gly966=)
n.329+3111G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.33443496T>ACA363629795SYNGAP1,SYNGAP1-AS1c.2686T>A (p.Tyr896Asn)
c.2944T>A (p.Tyr982Asn)
c.2902T>A (p.Tyr968Asn)
c.2767T>A (p.Tyr923Asn)
c.2899T>A (p.Tyr967Asn)
n.329+3110A>T
6g.33443496T>CCA363629791SYNGAP1,SYNGAP1-AS1c.2686T>C (p.Tyr896His)
c.2944T>C (p.Tyr982His)
c.2902T>C (p.Tyr968His)
c.2767T>C (p.Tyr923His)
c.2899T>C (p.Tyr967His)
n.329+3110A>G
6g.33443496T>GCA363629788SYNGAP1,SYNGAP1-AS1c.2686T>G (p.Tyr896Asp)
c.2944T>G (p.Tyr982Asp)
c.2902T>G (p.Tyr968Asp)
c.2767T>G (p.Tyr923Asp)
c.2899T>G (p.Tyr967Asp)
n.329+3110A>C
6g.33443497A>CCA363629813SYNGAP1,SYNGAP1-AS1c.2687A>C (p.Tyr896Ser)
c.2945A>C (p.Tyr982Ser)
c.2903A>C (p.Tyr968Ser)
c.2768A>C (p.Tyr923Ser)
c.2900A>C (p.Tyr967Ser)
n.329+3109T>G
6g.33443497A>GCA363629816SYNGAP1,SYNGAP1-AS1c.2687A>G (p.Tyr896Cys)
c.2945A>G (p.Tyr982Cys)
c.2903A>G (p.Tyr968Cys)
c.2768A>G (p.Tyr923Cys)
c.2900A>G (p.Tyr967Cys)
n.329+3109T>C
 ClinVar dbSNP gnomAD v4
6g.33443497A>TCA363629817SYNGAP1,SYNGAP1-AS1c.2687A>T (p.Tyr896Phe)
c.2945A>T (p.Tyr982Phe)
c.2903A>T (p.Tyr968Phe)
c.2768A>T (p.Tyr923Phe)
c.2900A>T (p.Tyr967Phe)
n.329+3109T>A
6g.33443498T>ACA363629818SYNGAP1,SYNGAP1-AS1c.2688T>A (p.Tyr896Ter)
c.2946T>A (p.Tyr982Ter)
c.2904T>A (p.Tyr968Ter)
c.2769T>A (p.Tyr923Ter)
c.2901T>A (p.Tyr967Ter)
n.329+3108A>T
 ClinVar
6g.33443498T>CCA3758967SYNGAP1,SYNGAP1-AS1c.2688T>C (p.Tyr896=)
c.2946T>C (p.Tyr982=)
c.2904T>C (p.Tyr968=)
c.2769T>C (p.Tyr923=)
c.2901T>C (p.Tyr967=)
n.329+3108A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.33443498T>GCA363629819SYNGAP1,SYNGAP1-AS1c.2688T>G (p.Tyr896Ter)
c.2946T>G (p.Tyr982Ter)
c.2904T>G (p.Tyr968Ter)
c.2769T>G (p.Tyr923Ter)
c.2901T>G (p.Tyr967Ter)
n.329+3108A>C
6g.33443498T=CA1620014659SYNGAP1,SYNGAP1-AS1c.2688T= (p.Tyr896=)
c.2946T= (p.Tyr982=)
c.2904T= (p.Tyr968=)
c.2769T= (p.Tyr923=)
c.2901T= (p.Tyr967=)
n.329+3108A=
6g.33443499A>CCA363629823SYNGAP1,SYNGAP1-AS1c.2689A>C (p.Ser897Arg)
c.2947A>C (p.Ser983Arg)
c.2905A>C (p.Ser969Arg)
c.2770A>C (p.Ser924Arg)
c.2902A>C (p.Ser968Arg)
n.329+3107T>G
6g.33443499A>GCA363629833SYNGAP1,SYNGAP1-AS1c.2689A>G (p.Ser897Gly)
c.2947A>G (p.Ser983Gly)
c.2905A>G (p.Ser969Gly)
c.2770A>G (p.Ser924Gly)
c.2902A>G (p.Ser968Gly)
n.329+3107T>C
6g.33443499A>TCA363629837SYNGAP1,SYNGAP1-AS1c.2689A>T (p.Ser897Cys)
c.2947A>T (p.Ser983Cys)
c.2905A>T (p.Ser969Cys)
c.2770A>T (p.Ser924Cys)
c.2902A>T (p.Ser968Cys)
n.329+3107T>A
6g.33443500G>ACA363629844SYNGAP1,SYNGAP1-AS1c.2690G>A (p.Ser897Asn)
c.2948G>A (p.Ser983Asn)
c.2906G>A (p.Ser969Asn)
c.2771G>A (p.Ser924Asn)
c.2903G>A (p.Ser968Asn)
n.329+3106C>T
 ClinVar dbSNP gnomAD v4
6g.33443500G>CCA363629847SYNGAP1,SYNGAP1-AS1c.2690G>C (p.Ser897Thr)
c.2948G>C (p.Ser983Thr)
c.2906G>C (p.Ser969Thr)
c.2771G>C (p.Ser924Thr)
c.2903G>C (p.Ser968Thr)
n.329+3106C>G
6g.33443500G=CA1620014660SYNGAP1,SYNGAP1-AS1c.2690G= (p.Ser897=)
c.2948G= (p.Ser983=)
c.2906G= (p.Ser969=)
c.2771G= (p.Ser924=)
c.2903G= (p.Ser968=)
n.329+3106C=
6g.33443500G>TCA363629850SYNGAP1,SYNGAP1-AS1c.2690G>T (p.Ser897Ile)
c.2948G>T (p.Ser983Ile)
c.2906G>T (p.Ser969Ile)
c.2771G>T (p.Ser924Ile)
c.2903G>T (p.Ser968Ile)
n.329+3106C>A
6g.33443501C>ACA363629856SYNGAP1,SYNGAP1-AS1c.2691C>A (p.Ser897Arg)
c.2949C>A (p.Ser983Arg)
c.2907C>A (p.Ser969Arg)
c.2772C>A (p.Ser924Arg)
c.2904C>A (p.Ser968Arg)
n.329+3105G>T
6g.33443501C>GCA363629860SYNGAP1,SYNGAP1-AS1c.2691C>G (p.Ser897Arg)
c.2949C>G (p.Ser983Arg)
c.2907C>G (p.Ser969Arg)
c.2772C>G (p.Ser924Arg)
c.2904C>G (p.Ser968Arg)
n.329+3105G>C
6g.33443501C>TCA450104170SYNGAP1,SYNGAP1-AS1c.2691C>T (p.Ser897=)
c.2949C>T (p.Ser983=)
c.2907C>T (p.Ser969=)
c.2772C>T (p.Ser924=)
c.2904C>T (p.Ser968=)
n.329+3105G>A
6g.33443502A=CA1620014661SYNGAP1,SYNGAP1-AS1c.2692A= (p.Lys898=)
c.2950A= (p.Lys984=)
c.2908A= (p.Lys970=)
c.2773A= (p.Lys925=)
c.2905A= (p.Lys969=)
n.329+3104T=
6g.33443502A>CCA363629869SYNGAP1,SYNGAP1-AS1c.2692A>C (p.Lys898Gln)
c.2950A>C (p.Lys984Gln)
c.2908A>C (p.Lys970Gln)
c.2773A>C (p.Lys925Gln)
c.2905A>C (p.Lys969Gln)
n.329+3104T>G
6g.33443502A>GCA363629865SYNGAP1,SYNGAP1-AS1c.2692A>G (p.Lys898Glu)
c.2950A>G (p.Lys984Glu)
c.2908A>G (p.Lys970Glu)
c.2773A>G (p.Lys925Glu)
c.2905A>G (p.Lys969Glu)
n.329+3104T>C
6g.33443502A>TCA363629863SYNGAP1,SYNGAP1-AS1c.2692A>T (p.Lys898Ter)
c.2950A>T (p.Lys984Ter)
c.2908A>T (p.Lys970Ter)
c.2773A>T (p.Lys925Ter)
c.2905A>T (p.Lys969Ter)
n.329+3104T>A
 dbSNP
6g.33443503A>CCA363629872SYNGAP1,SYNGAP1-AS1c.2693A>C (p.Lys898Thr)
c.2951A>C (p.Lys984Thr)
c.2909A>C (p.Lys970Thr)
c.2774A>C (p.Lys925Thr)
c.2906A>C (p.Lys969Thr)
n.329+3103T>G
6g.33443503A>GCA363629876SYNGAP1,SYNGAP1-AS1c.2693A>G (p.Lys898Arg)
c.2951A>G (p.Lys984Arg)
c.2909A>G (p.Lys970Arg)
c.2774A>G (p.Lys925Arg)
c.2906A>G (p.Lys969Arg)
n.329+3103T>C
 gnomAD v4
6g.33443503A>TCA363629878SYNGAP1,SYNGAP1-AS1c.2693A>T (p.Lys898Met)
c.2951A>T (p.Lys984Met)
c.2909A>T (p.Lys970Met)
c.2774A>T (p.Lys925Met)
c.2906A>T (p.Lys969Met)
n.329+3103T>A
6g.33443504G>ACA450104172SYNGAP1,SYNGAP1-AS1c.2694G>A (p.Lys898=)
c.2952G>A (p.Lys984=)
c.2910G>A (p.Lys970=)
c.2775G>A (p.Lys925=)
c.2907G>A (p.Lys969=)
n.329+3102C>T
6g.33443504G>CCA363629882SYNGAP1,SYNGAP1-AS1c.2694G>C (p.Lys898Asn)
c.2952G>C (p.Lys984Asn)
c.2910G>C (p.Lys970Asn)
c.2775G>C (p.Lys925Asn)
c.2907G>C (p.Lys969Asn)
n.329+3102C>G
 gnomAD v4
6g.33443504G>TCA363629883SYNGAP1,SYNGAP1-AS1c.2694G>T (p.Lys898Asn)
c.2952G>T (p.Lys984Asn)
c.2910G>T (p.Lys970Asn)
c.2775G>T (p.Lys925Asn)
c.2907G>T (p.Lys969Asn)
n.329+3102C>A
6g.33443507_33443510delCA2580074387SYNGAP1,SYNGAP1-AS1c.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
6g.33443505A>CCA363629900SYNGAP1,SYNGAP1-AS1c.2695A>C (p.Ser899Arg)
c.2953A>C (p.Ser985Arg)
c.2911A>C (p.Ser971Arg)
c.2776A>C (p.Ser926Arg)
c.2908A>C (p.Ser970Arg)
n.329+3101T>G
6g.33443505A>GCA363629905SYNGAP1,SYNGAP1-AS1c.2695A>G (p.Ser899Gly)
c.2953A>G (p.Ser985Gly)
c.2911A>G (p.Ser971Gly)
c.2776A>G (p.Ser926Gly)
c.2908A>G (p.Ser970Gly)
n.329+3101T>C
6g.33443505A>TCA363629908SYNGAP1,SYNGAP1-AS1c.2695A>T (p.Ser899Cys)
c.2953A>T (p.Ser985Cys)
c.2911A>T (p.Ser971Cys)
c.2776A>T (p.Ser926Cys)
c.2908A>T (p.Ser970Cys)
n.329+3101T>A
6g.33443506G>ACA363629913SYNGAP1,SYNGAP1-AS1c.2696G>A (p.Ser899Asn)
c.2954G>A (p.Ser985Asn)
c.2912G>A (p.Ser971Asn)
c.2777G>A (p.Ser926Asn)
c.2909G>A (p.Ser970Asn)
n.329+3100C>T
 ClinVar
6g.33443506G>CCA363629918SYNGAP1,SYNGAP1-AS1c.2696G>C (p.Ser899Thr)
c.2954G>C (p.Ser985Thr)
c.2912G>C (p.Ser971Thr)
c.2777G>C (p.Ser926Thr)
c.2909G>C (p.Ser970Thr)
n.329+3100C>G
6g.33443506G>TCA363629922SYNGAP1,SYNGAP1-AS1c.2696G>T (p.Ser899Ile)
c.2954G>T (p.Ser985Ile)
c.2912G>T (p.Ser971Ile)
c.2777G>T (p.Ser926Ile)
c.2909G>T (p.Ser970Ile)
n.329+3100C>A
6g.33443507T>ACA363629936SYNGAP1,SYNGAP1-AS1c.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
6g.33443507T>CCA450104174SYNGAP1,SYNGAP1-AS1c.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
6g.33443507T>GCA363629939SYNGAP1,SYNGAP1-AS1c.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
6g.33443507T=CA1620014662SYNGAP1,SYNGAP1-AS1c.2697T= (p.Ser899=)
c.2955T= (p.Ser985=)
c.2913T= (p.Ser971=)
c.2778T= (p.Ser926=)
c.2910T= (p.Ser970=)
n.329+3099A=
6g.33443508G>ACA363629955SYNGAP1,SYNGAP1-AS1c.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
6g.33443508G>CCA363629946SYNGAP1,SYNGAP1-AS1c.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
6g.33443508G=CA1620014663SYNGAP1,SYNGAP1-AS1c.2698G= (p.Glu900=)
c.2956G= (p.Glu986=)
c.2914G= (p.Glu972=)
c.2779G= (p.Glu927=)
c.2911G= (p.Glu971=)
n.329+3098C=
6g.33443508G>TCA363629944SYNGAP1,SYNGAP1-AS1c.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
6g.33443509A>CCA363629978SYNGAP1,SYNGAP1-AS1c.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
6g.33443509A>GCA363629981SYNGAP1,SYNGAP1-AS1c.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
6g.33443509A>TCA363629984SYNGAP1,SYNGAP1-AS1c.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
6g.33443510G>ACA450104176SYNGAP1,SYNGAP1-AS1c.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
6g.33443510G>CCA363629989SYNGAP1,SYNGAP1-AS1c.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
6g.33443510G>TCA363629992SYNGAP1,SYNGAP1-AS1c.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
6g.33443511G>ACA363629994SYNGAP1,SYNGAP1-AS1c.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
6g.33443511G>CCA363629995SYNGAP1,SYNGAP1-AS1c.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
6g.33443511G>TCA363629996SYNGAP1,SYNGAP1-AS1c.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
6g.33443512A>CCA363629997SYNGAP1,SYNGAP1-AS1c.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
6g.33443512A>GCA363629999SYNGAP1,SYNGAP1-AS1c.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
6g.33443512A>TCA363630001SYNGAP1,SYNGAP1-AS1c.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
6g.33443513C>ACA3758968SYNGAP1,SYNGAP1-AS1c.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
6g.33443513C=CA1620014664SYNGAP1,SYNGAP1-AS1c.2703C= (p.Asp901=)
c.2961C= (p.Asp987=)
c.2919C= (p.Asp973=)
c.2784C= (p.Asp928=)
c.2916C= (p.Asp972=)
n.329+3093G=
6g.33443513C>GCA363630014SYNGAP1,SYNGAP1-AS1c.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
6g.33443513C>TCA450104178SYNGAP1,SYNGAP1-AS1c.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
6g.33443514C>ACA363630020SYNGAP1,SYNGAP1-AS1c.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
6g.33443514C=CA1620014665SYNGAP1,SYNGAP1-AS1c.2704C= (p.Leu902=)
c.2962C= (p.Leu988=)
c.2920C= (p.Leu974=)
c.2785C= (p.Leu929=)
c.2917C= (p.Leu973=)
n.329+3092G=
6g.33443514C>GCA363630021SYNGAP1,SYNGAP1-AS1c.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
6g.33443514C>TCA363630017SYNGAP1,SYNGAP1-AS1c.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
6g.33443515T>ACA363630022SYNGAP1,SYNGAP1-AS1c.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
6g.33443515T>CCA363630025SYNGAP1,SYNGAP1-AS1c.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
6g.33443515T>GCA363630024SYNGAP1,SYNGAP1-AS1c.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
6g.33443516C>ACA450104180SYNGAP1,SYNGAP1-AS1c.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
6g.33443516C>GCA450104181SYNGAP1,SYNGAP1-AS1c.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
6g.33443516C>TCA450104182SYNGAP1,SYNGAP1-AS1c.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
6g.33443517T>ACA363630027SYNGAP1,SYNGAP1-AS1c.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
6g.33443517T>CCA363630028SYNGAP1,SYNGAP1-AS1c.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
6g.33443517T>GCA363630031SYNGAP1,SYNGAP1-AS1c.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
6g.33443518C>ACA363630033SYNGAP1,SYNGAP1-AS1c.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
6g.33443518C=CA1620014666SYNGAP1,SYNGAP1-AS1c.2708C= (p.Ser903=)
c.2966C= (p.Ser989=)
c.2924C= (p.Ser975=)
c.2789C= (p.Ser930=)
c.2921C= (p.Ser974=)
n.329+3088G=
6g.33443518C>GCA137073202SYNGAP1,SYNGAP1-AS1c.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
6g.33443518C>TCA363630038SYNGAP1,SYNGAP1-AS1c.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
6g.33443519T>ACA450104183SYNGAP1,SYNGAP1-AS1c.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
6g.33443519T>CCA450104185SYNGAP1,SYNGAP1-AS1c.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
6g.33443519T>GCA450104184SYNGAP1,SYNGAP1-AS1c.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
6g.33443519T=CA1620014667SYNGAP1,SYNGAP1-AS1c.2709T= (p.Ser903=)
c.2967T= (p.Ser989=)
c.2925T= (p.Ser975=)
c.2790T= (p.Ser930=)
c.2922T= (p.Ser974=)
n.329+3087A=
6g.33443520T>ACA363630040SYNGAP1,SYNGAP1-AS1c.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
6g.33443520T>CCA363630043SYNGAP1,SYNGAP1-AS1c.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
6g.33443520T>GCA363630046SYNGAP1,SYNGAP1-AS1c.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
6g.33443521C>ACA363630049SYNGAP1,SYNGAP1-AS1c.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
6g.33443521C=CA1620014668SYNGAP1,SYNGAP1-AS1c.2711C= (p.Ser904=)
c.2969C= (p.Ser990=)
c.2927C= (p.Ser976=)
c.2792C= (p.Ser931=)
c.2924C= (p.Ser975=)
n.329+3085G=
6g.33443521C>GCA363630052SYNGAP1,SYNGAP1-AS1c.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
6g.33443521C>TCA137073203SYNGAP1,SYNGAP1-AS1c.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
6g.33443522delCA2739272944SYNGAP1,SYNGAP1-AS1c.2712del (p.Val906SerfsTer?)
c.2970del (p.Val992SerfsTer?)
c.2928del (p.Val978SerfsTer?)
c.2793del (p.Val933SerfsTer?)
c.2925del (p.Val977SerfsTer?)
n.329+3085del
 ClinVar
6g.33443522C>ACA450104189SYNGAP1,SYNGAP1-AS1c.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
6g.33443522C=CA1620014669SYNGAP1,SYNGAP1-AS1c.2712C= (p.Ser904=)
c.2970C= (p.Ser990=)
c.2928C= (p.Ser976=)
c.2793C= (p.Ser931=)
c.2925C= (p.Ser975=)
n.329+3084G=
6g.33443522C>GCA450104190SYNGAP1,SYNGAP1-AS1c.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
6g.33443522C>TCA155638SYNGAP1,SYNGAP1-AS1c.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
6g.33443522_33443523delinsCGCA1620014670SYNGAP1,SYNGAP1-AS1c.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
6g.33443523G>ACA137073211SYNGAP1,SYNGAP1-AS1c.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
6g.33443523G>CCA363630058SYNGAP1,SYNGAP1-AS1c.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
6g.33443523G=CA1620014671SYNGAP1,SYNGAP1-AS1c.2713G= (p.Gly905=)
c.2971G= (p.Gly991=)
c.2929G= (p.Gly977=)
c.2794G= (p.Gly932=)
c.2926G= (p.Gly976=)
n.329+3083C=
6g.33443523G>TCA363630059SYNGAP1,SYNGAP1-AS1c.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
6g.33443526delCA1139659344SYNGAP1,SYNGAP1-AS1c.2716del (p.Val906SerfsTer?)
c.2974del (p.Val992SerfsTer?)
c.2932del (p.Val978SerfsTer?)
c.2797del (p.Val933SerfsTer?)
c.2929del (p.Val977SerfsTer?)
n.329+3083del
 ClinVar dbSNP
6g.33443524G>ACA363630061SYNGAP1,SYNGAP1-AS1c.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
6g.33443524G>CCA363630063SYNGAP1,SYNGAP1-AS1c.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
6g.33443524G>TCA363630064SYNGAP1,SYNGAP1-AS1c.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
6g.33443525G>ACA450104193SYNGAP1,SYNGAP1-AS1c.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
6g.33443525G>CCA450104195SYNGAP1,SYNGAP1-AS1c.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
6g.33443525G>TCA450104194SYNGAP1,SYNGAP1-AS1c.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
6g.33443526G>ACA3758969SYNGAP1,SYNGAP1-AS1c.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
6g.33443526G>CCA363630069SYNGAP1,SYNGAP1-AS1c.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
6g.33443526G=CA1620014672SYNGAP1,SYNGAP1-AS1c.2716G= (p.Val906=)
c.2974G= (p.Val992=)
c.2932G= (p.Val978=)
c.2797G= (p.Val933=)
c.2929G= (p.Val977=)
n.329+3080C=
6g.33443526G>TCA363630073SYNGAP1,SYNGAP1-AS1c.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
6g.33443527T>ACA363630084SYNGAP1,SYNGAP1-AS1c.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
6g.33443527T>CCA363630086SYNGAP1,SYNGAP1-AS1c.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
6g.33443527T>GCA363630088SYNGAP1,SYNGAP1-AS1c.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
6g.33443527T=CA1620014673SYNGAP1,SYNGAP1-AS1c.2717T= (p.Val906=)
c.2975T= (p.Val992=)
c.2933T= (p.Val978=)
c.2798T= (p.Val933=)
c.2930T= (p.Val977=)
n.329+3079A=
6g.33443528C>ACA450104198SYNGAP1,SYNGAP1-AS1c.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
6g.33443528C>GCA450104199SYNGAP1,SYNGAP1-AS1c.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
6g.33443528C>TCA450104200SYNGAP1,SYNGAP1-AS1c.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
6g.33443531dupCA658822624SYNGAP1,SYNGAP1-AS1c.2721dup (p.Lys908GlnfsTer10)
c.2979dup (p.Lys994GlnfsTer10)
c.2937dup (p.Lys980GlnfsTer10)
c.2802dup (p.Lys935GlnfsTer10)
c.2934dup (p.Lys979GlnfsTer10)
n.329+3078dup
 ClinVar dbSNP
6g.33443529C>ACA363630093SYNGAP1,SYNGAP1-AS1c.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
6g.33443529C=CA1620014674SYNGAP1,SYNGAP1-AS1c.2719C= (p.Pro907=)
c.2977C= (p.Pro993=)
c.2935C= (p.Pro979=)
c.2800C= (p.Pro934=)
c.2932C= (p.Pro978=)
n.329+3077G=
6g.33443529C>GCA363630097SYNGAP1,SYNGAP1-AS1c.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
6g.33443529C>TCA363630089SYNGAP1,SYNGAP1-AS1c.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
6g.33443530C>ACA363630101SYNGAP1,SYNGAP1-AS1c.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
6g.33443530C>GCA363630116SYNGAP1,SYNGAP1-AS1c.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
6g.33443530C>TCA363630122SYNGAP1,SYNGAP1-AS1c.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
6g.33443531C>ACA450104203SYNGAP1,SYNGAP1-AS1c.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
6g.33443531C>GCA450104204SYNGAP1,SYNGAP1-AS1c.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
6g.33443531C>TCA450104205SYNGAP1,SYNGAP1-AS1c.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
6g.33443532A=CA1620014675SYNGAP1,SYNGAP1-AS1c.2722A= (p.Lys908=)
c.2980A= (p.Lys994=)
c.2938A= (p.Lys980=)
c.2803A= (p.Lys935=)
c.2935A= (p.Lys979=)
n.329+3074T=
6g.33443532A>CCA363630135SYNGAP1,SYNGAP1-AS1c.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
6g.33443532A>GCA3758970SYNGAP1,SYNGAP1-AS1c.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
6g.33443532A>TCA363630141SYNGAP1,SYNGAP1-AS1c.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
6g.33443533A>CCA363630147SYNGAP1,SYNGAP1-AS1c.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
6g.33443533A>GCA363630144SYNGAP1,SYNGAP1-AS1c.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
6g.33443533A>TCA363630146SYNGAP1,SYNGAP1-AS1c.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
6g.33443534delCA2580074389SYNGAP1,SYNGAP1-AS1c.2724del (p.Lys908AsnfsTer?)
c.2982del (p.Lys994AsnfsTer?)
c.2940del (p.Lys980AsnfsTer?)
c.2805del (p.Lys935AsnfsTer?)
c.2937del (p.Lys979AsnfsTer?)
n.329+3072del
 ClinVar
6g.33443534G>ACA450104129SYNGAP1,SYNGAP1-AS1c.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
6g.33443534G>CCA363630153SYNGAP1,SYNGAP1-AS1c.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
6g.33443534G>TCA363630156SYNGAP1,SYNGAP1-AS1c.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
6g.33443535C>ACA363630162SYNGAP1,SYNGAP1-AS1c.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
6g.33443535C=CA1620014676SYNGAP1,SYNGAP1-AS1c.2725C= (p.Pro909=)
c.2983C= (p.Pro995=)
c.2941C= (p.Pro981=)
c.2806C= (p.Pro936=)
c.2938C= (p.Pro980=)
n.329+3071G=
6g.33443535C>GCA363630165SYNGAP1,SYNGAP1-AS1c.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
6g.33443535C>TCA363630171SYNGAP1,SYNGAP1-AS1c.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

Number of alleles fetched