Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.33443664A>CCA363631275SYNGAP1,SYNGAP1-AS1c.2854A>C (p.Thr952Pro)
c.3112A>C (p.Thr1038Pro)
c.3070A>C (p.Thr1024Pro)
c.2935A>C (p.Thr979Pro)
c.3067A>C (p.Thr1023Pro)
n.329+2942T>G
6g.33443664A>GCA363631276SYNGAP1,SYNGAP1-AS1c.2854A>G (p.Thr952Ala)
c.3112A>G (p.Thr1038Ala)
c.3070A>G (p.Thr1024Ala)
c.2935A>G (p.Thr979Ala)
c.3067A>G (p.Thr1023Ala)
n.329+2942T>C
6g.33443664A>TCA363631277SYNGAP1,SYNGAP1-AS1c.2854A>T (p.Thr952Ser)
c.3112A>T (p.Thr1038Ser)
c.3070A>T (p.Thr1024Ser)
c.2935A>T (p.Thr979Ser)
c.3067A>T (p.Thr1023Ser)
n.329+2942T>A
6g.33443665C>ACA363631278SYNGAP1,SYNGAP1-AS1c.2855C>A (p.Thr952Asn)
c.3113C>A (p.Thr1038Asn)
c.3071C>A (p.Thr1024Asn)
c.2936C>A (p.Thr979Asn)
c.3068C>A (p.Thr1023Asn)
n.329+2941G>T
6g.33443665C>GCA363631280SYNGAP1,SYNGAP1-AS1c.2855C>G (p.Thr952Ser)
c.3113C>G (p.Thr1038Ser)
c.3071C>G (p.Thr1024Ser)
c.2936C>G (p.Thr979Ser)
c.3068C>G (p.Thr1023Ser)
n.329+2941G>C
6g.33443665C>TCA363631283SYNGAP1,SYNGAP1-AS1c.2855C>T (p.Thr952Ile)
c.3113C>T (p.Thr1038Ile)
c.3071C>T (p.Thr1024Ile)
c.2936C>T (p.Thr979Ile)
c.3068C>T (p.Thr1023Ile)
n.329+2941G>A
6g.33443665_33443666insACCCAACACA2770567244SYNGAP1,SYNGAP1-AS1c.2855_2856insACCCAACA (p.Ile953ProfsTer?)
c.3113_3114insACCCAACA (p.Ile1039ProfsTer?)
c.3071_3072insACCCAACA (p.Ile1025ProfsTer?)
c.2936_2937insACCCAACA (p.Ile980ProfsTer?)
c.3068_3069insACCCAACA (p.Ile1024ProfsTer?)
n.329+2940_329+2941insTGTTGGGT
6g.33443666C>ACA450104252SYNGAP1,SYNGAP1-AS1c.2856C>A (p.Thr952=)
c.3114C>A (p.Thr1038=)
c.3072C>A (p.Thr1024=)
c.2937C>A (p.Thr979=)
c.3069C>A (p.Thr1023=)
n.329+2940G>T
6g.33443666C=CA1620014727SYNGAP1,SYNGAP1-AS1c.2856C= (p.Thr952=)
c.3114C= (p.Thr1038=)
c.3072C= (p.Thr1024=)
c.2937C= (p.Thr979=)
c.3069C= (p.Thr1023=)
n.329+2940G=
6g.33443666C>GCA450104253SYNGAP1,SYNGAP1-AS1c.2856C>G (p.Thr952=)
c.3114C>G (p.Thr1038=)
c.3072C>G (p.Thr1024=)
c.2937C>G (p.Thr979=)
c.3069C>G (p.Thr1023=)
n.329+2940G>C
6g.33443666C>TCA3758984SYNGAP1,SYNGAP1-AS1c.2856C>T (p.Thr952=)
c.3114C>T (p.Thr1038=)
c.3072C>T (p.Thr1024=)
c.2937C>T (p.Thr979=)
c.3069C>T (p.Thr1023=)
n.329+2940G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.33443667A>CCA363631287SYNGAP1,SYNGAP1-AS1c.2857A>C (p.Ile953Leu)
c.3115A>C (p.Ile1039Leu)
c.3073A>C (p.Ile1025Leu)
c.2938A>C (p.Ile980Leu)
c.3070A>C (p.Ile1024Leu)
n.329+2939T>G
6g.33443667A>GCA363631288SYNGAP1,SYNGAP1-AS1c.2857A>G (p.Ile953Val)
c.3115A>G (p.Ile1039Val)
c.3073A>G (p.Ile1025Val)
c.2938A>G (p.Ile980Val)
c.3070A>G (p.Ile1024Val)
n.329+2939T>C
6g.33443667A>TCA363631291SYNGAP1,SYNGAP1-AS1c.2857A>T (p.Ile953Phe)
c.3115A>T (p.Ile1039Phe)
c.3073A>T (p.Ile1025Phe)
c.2938A>T (p.Ile980Phe)
c.3070A>T (p.Ile1024Phe)
n.329+2939T>A
6g.33443668T>ACA363631296SYNGAP1,SYNGAP1-AS1c.2858T>A (p.Ile953Asn)
c.3116T>A (p.Ile1039Asn)
c.3074T>A (p.Ile1025Asn)
c.2939T>A (p.Ile980Asn)
c.3071T>A (p.Ile1024Asn)
n.329+2938A>T
6g.33443668T>CCA3758985SYNGAP1,SYNGAP1-AS1c.2858T>C (p.Ile953Thr)
c.3116T>C (p.Ile1039Thr)
c.3074T>C (p.Ile1025Thr)
c.2939T>C (p.Ile980Thr)
c.3071T>C (p.Ile1024Thr)
n.329+2938A>G
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
6g.33443668T>GCA363631304SYNGAP1,SYNGAP1-AS1c.2858T>G (p.Ile953Ser)
c.3116T>G (p.Ile1039Ser)
c.3074T>G (p.Ile1025Ser)
c.2939T>G (p.Ile980Ser)
c.3071T>G (p.Ile1024Ser)
n.329+2938A>C
6g.33443668T=CA1620014728SYNGAP1,SYNGAP1-AS1c.2858T= (p.Ile953=)
c.3116T= (p.Ile1039=)
c.3074T= (p.Ile1025=)
c.2939T= (p.Ile980=)
c.3071T= (p.Ile1024=)
n.329+2938A=
6g.33443669T>ACA450104254SYNGAP1,SYNGAP1-AS1c.2859T>A (p.Ile953=)
c.3117T>A (p.Ile1039=)
c.3075T>A (p.Ile1025=)
c.2940T>A (p.Ile980=)
c.3072T>A (p.Ile1024=)
n.329+2937A>T
6g.33443669T>CCA450104255SYNGAP1,SYNGAP1-AS1c.2859T>C (p.Ile953=)
c.3117T>C (p.Ile1039=)
c.3075T>C (p.Ile1025=)
c.2940T>C (p.Ile980=)
c.3072T>C (p.Ile1024=)
n.329+2937A>G
 gnomAD v4
6g.33443669T>GCA363631309SYNGAP1,SYNGAP1-AS1c.2859T>G (p.Ile953Met)
c.3117T>G (p.Ile1039Met)
c.3075T>G (p.Ile1025Met)
c.2940T>G (p.Ile980Met)
c.3072T>G (p.Ile1024Met)
n.329+2937A>C
6g.33443670G>ACA363631310SYNGAP1,SYNGAP1-AS1c.2860G>A (p.Gly954Ser)
c.3118G>A (p.Gly1040Ser)
c.3076G>A (p.Gly1026Ser)
c.2941G>A (p.Gly981Ser)
c.3073G>A (p.Gly1025Ser)
n.329+2936C>T
6g.33443670G>CCA363631311SYNGAP1,SYNGAP1-AS1c.2860G>C (p.Gly954Arg)
c.3118G>C (p.Gly1040Arg)
c.3076G>C (p.Gly1026Arg)
c.2941G>C (p.Gly981Arg)
c.3073G>C (p.Gly1025Arg)
n.329+2936C>G
6g.33443670G>TCA363631312SYNGAP1,SYNGAP1-AS1c.2860G>T (p.Gly954Cys)
c.3118G>T (p.Gly1040Cys)
c.3076G>T (p.Gly1026Cys)
c.2941G>T (p.Gly981Cys)
c.3073G>T (p.Gly1025Cys)
n.329+2936C>A
6g.33443671G>ACA363631316SYNGAP1,SYNGAP1-AS1c.2861G>A (p.Gly954Asp)
c.3119G>A (p.Gly1040Asp)
c.3077G>A (p.Gly1026Asp)
c.2942G>A (p.Gly981Asp)
c.3074G>A (p.Gly1025Asp)
n.329+2935C>T
6g.33443671G>CCA363631321SYNGAP1,SYNGAP1-AS1c.2861G>C (p.Gly954Ala)
c.3119G>C (p.Gly1040Ala)
c.3077G>C (p.Gly1026Ala)
c.2942G>C (p.Gly981Ala)
c.3074G>C (p.Gly1025Ala)
n.329+2935C>G
6g.33443671G=CA1620014729SYNGAP1,SYNGAP1-AS1c.2861G= (p.Gly954=)
c.3119G= (p.Gly1040=)
c.3077G= (p.Gly1026=)
c.2942G= (p.Gly981=)
c.3074G= (p.Gly1025=)
n.329+2935C=
6g.33443671G>TCA363631324SYNGAP1,SYNGAP1-AS1c.2861G>T (p.Gly954Val)
c.3119G>T (p.Gly1040Val)
c.3077G>T (p.Gly1026Val)
c.2942G>T (p.Gly981Val)
c.3074G>T (p.Gly1025Val)
n.329+2935C>A
 ClinVar dbSNP gnomAD v4
6g.33443672T>ACA450104256SYNGAP1,SYNGAP1-AS1c.2862T>A (p.Gly954=)
c.3120T>A (p.Gly1040=)
c.3078T>A (p.Gly1026=)
c.2943T>A (p.Gly981=)
c.3075T>A (p.Gly1025=)
n.329+2934A>T
6g.33443672T>CCA450104257SYNGAP1,SYNGAP1-AS1c.2862T>C (p.Gly954=)
c.3120T>C (p.Gly1040=)
c.3078T>C (p.Gly1026=)
c.2943T>C (p.Gly981=)
c.3075T>C (p.Gly1025=)
n.329+2934A>G
 dbSNP
6g.33443672T>GCA450104258SYNGAP1,SYNGAP1-AS1c.2862T>G (p.Gly954=)
c.3120T>G (p.Gly1040=)
c.3078T>G (p.Gly1026=)
c.2943T>G (p.Gly981=)
c.3075T>G (p.Gly1025=)
n.329+2934A>C
6g.33443672T=CA1620014730SYNGAP1,SYNGAP1-AS1c.2862T= (p.Gly954=)
c.3120T= (p.Gly1040=)
c.3078T= (p.Gly1026=)
c.2943T= (p.Gly981=)
c.3075T= (p.Gly1025=)
n.329+2934A=
6g.33443673C>ACA363631327SYNGAP1,SYNGAP1-AS1c.2863C>A (p.Pro955Thr)
c.3121C>A (p.Pro1041Thr)
c.3079C>A (p.Pro1027Thr)
c.2944C>A (p.Pro982Thr)
c.3076C>A (p.Pro1026Thr)
n.329+2933G>T
6g.33443673C=CA1620014731SYNGAP1,SYNGAP1-AS1c.2863C= (p.Pro955=)
c.3121C= (p.Pro1041=)
c.3079C= (p.Pro1027=)
c.2944C= (p.Pro982=)
c.3076C= (p.Pro1026=)
n.329+2933G=
6g.33443673C>GCA363631329SYNGAP1,SYNGAP1-AS1c.2863C>G (p.Pro955Ala)
c.3121C>G (p.Pro1041Ala)
c.3079C>G (p.Pro1027Ala)
c.2944C>G (p.Pro982Ala)
c.3076C>G (p.Pro1026Ala)
n.329+2933G>C
6g.33443673C>TCA363631331SYNGAP1,SYNGAP1-AS1c.2863C>T (p.Pro955Ser)
c.3121C>T (p.Pro1041Ser)
c.3079C>T (p.Pro1027Ser)
c.2944C>T (p.Pro982Ser)
c.3076C>T (p.Pro1026Ser)
n.329+2933G>A
 ClinVar dbSNP gnomAD v4
6g.33443677_33443690delCA2740091316SYNGAP1,SYNGAP1-AS1c.2867_2880del (p.Gln956LeufsTer?)
c.3125_3138del (p.Gln1042LeufsTer?)
c.3083_3096del (p.Gln1028LeufsTer?)
c.2948_2961del (p.Gln983LeufsTer?)
c.3080_3093del (p.Gln1027LeufsTer?)
n.329+2920_329+2933del
 ClinVar
6g.33443674C>ACA363631334SYNGAP1,SYNGAP1-AS1c.2864C>A (p.Pro955His)
c.3122C>A (p.Pro1041His)
c.3080C>A (p.Pro1027His)
c.2945C>A (p.Pro982His)
c.3077C>A (p.Pro1026His)
n.329+2932G>T
6g.33443674C>GCA363631336SYNGAP1,SYNGAP1-AS1c.2864C>G (p.Pro955Arg)
c.3122C>G (p.Pro1041Arg)
c.3080C>G (p.Pro1027Arg)
c.2945C>G (p.Pro982Arg)
c.3077C>G (p.Pro1026Arg)
n.329+2932G>C
6g.33443674C>TCA363631337SYNGAP1,SYNGAP1-AS1c.2864C>T (p.Pro955Leu)
c.3122C>T (p.Pro1041Leu)
c.3080C>T (p.Pro1027Leu)
c.2945C>T (p.Pro982Leu)
c.3077C>T (p.Pro1026Leu)
n.329+2932G>A
6g.33443675C>ACA450104259SYNGAP1,SYNGAP1-AS1c.2865C>A (p.Pro955=)
c.3123C>A (p.Pro1041=)
c.3081C>A (p.Pro1027=)
c.2946C>A (p.Pro982=)
c.3078C>A (p.Pro1026=)
n.329+2931G>T
 ClinVar gnomAD v4
6g.33443675C>GCA450104261SYNGAP1,SYNGAP1-AS1c.2865C>G (p.Pro955=)
c.3123C>G (p.Pro1041=)
c.3081C>G (p.Pro1027=)
c.2946C>G (p.Pro982=)
c.3078C>G (p.Pro1026=)
n.329+2931G>C
6g.33443675C>TCA450104260SYNGAP1,SYNGAP1-AS1c.2865C>T (p.Pro955=)
c.3123C>T (p.Pro1041=)
c.3081C>T (p.Pro1027=)
c.2946C>T (p.Pro982=)
c.3078C>T (p.Pro1026=)
n.329+2931G>A
 dbSNP
6g.33443676C>ACA363631340SYNGAP1,SYNGAP1-AS1c.2866C>A (p.Gln956Lys)
c.3124C>A (p.Gln1042Lys)
c.3082C>A (p.Gln1028Lys)
c.2947C>A (p.Gln983Lys)
c.3079C>A (p.Gln1027Lys)
n.329+2930G>T
6g.33443676C=CA1620014732SYNGAP1,SYNGAP1-AS1c.2866C= (p.Gln956=)
c.3124C= (p.Gln1042=)
c.3082C= (p.Gln1028=)
c.2947C= (p.Gln983=)
c.3079C= (p.Gln1027=)
n.329+2930G=
6g.33443676C>GCA363631348SYNGAP1,SYNGAP1-AS1c.2866C>G (p.Gln956Glu)
c.3124C>G (p.Gln1042Glu)
c.3082C>G (p.Gln1028Glu)
c.2947C>G (p.Gln983Glu)
c.3079C>G (p.Gln1027Glu)
n.329+2930G>C
6g.33443676C>TCA363631344SYNGAP1,SYNGAP1-AS1c.2866C>T (p.Gln956Ter)
c.3124C>T (p.Gln1042Ter)
c.3082C>T (p.Gln1028Ter)
c.2947C>T (p.Gln983Ter)
c.3079C>T (p.Gln1027Ter)
n.329+2930G>A
 ClinVar dbSNP
6g.33443677A=CA1620014733SYNGAP1,SYNGAP1-AS1c.2867A= (p.Gln956=)
c.3125A= (p.Gln1042=)
c.3083A= (p.Gln1028=)
c.2948A= (p.Gln983=)
c.3080A= (p.Gln1027=)
n.329+2929T=
6g.33443677A>CCA363631350SYNGAP1,SYNGAP1-AS1c.2867A>C (p.Gln956Pro)
c.3125A>C (p.Gln1042Pro)
c.3083A>C (p.Gln1028Pro)
c.2948A>C (p.Gln983Pro)
c.3080A>C (p.Gln1027Pro)
n.329+2929T>G
6g.33443677A>GCA363631352SYNGAP1,SYNGAP1-AS1c.2867A>G (p.Gln956Arg)
c.3125A>G (p.Gln1042Arg)
c.3083A>G (p.Gln1028Arg)
c.2948A>G (p.Gln983Arg)
c.3080A>G (p.Gln1027Arg)
n.329+2929T>C
 ClinVar dbSNP gnomAD v2 gnomAD v4
6g.33443677A>TCA363631356SYNGAP1,SYNGAP1-AS1c.2867A>T (p.Gln956Leu)
c.3125A>T (p.Gln1042Leu)
c.3083A>T (p.Gln1028Leu)
c.2948A>T (p.Gln983Leu)
c.3080A>T (p.Gln1027Leu)
n.329+2929T>A
6g.33443678G>ACA450104262SYNGAP1,SYNGAP1-AS1c.2868G>A (p.Gln956=)
c.3126G>A (p.Gln1042=)
c.3084G>A (p.Gln1028=)
c.2949G>A (p.Gln983=)
c.3081G>A (p.Gln1027=)
n.329+2928C>T
6g.33443678G>CCA363631360SYNGAP1,SYNGAP1-AS1c.2868G>C (p.Gln956His)
c.3126G>C (p.Gln1042His)
c.3084G>C (p.Gln1028His)
c.2949G>C (p.Gln983His)
c.3081G>C (p.Gln1027His)
n.329+2928C>G
6g.33443678G>TCA363631363SYNGAP1,SYNGAP1-AS1c.2868G>T (p.Gln956His)
c.3126G>T (p.Gln1042His)
c.3084G>T (p.Gln1028His)
c.2949G>T (p.Gln983His)
c.3081G>T (p.Gln1027His)
n.329+2928C>A
6g.33443679A>CCA450104263SYNGAP1,SYNGAP1-AS1c.2869A>C (p.Arg957=)
c.3127A>C (p.Arg1043=)
c.3085A>C (p.Arg1029=)
c.2950A>C (p.Arg984=)
c.3082A>C (p.Arg1028=)
n.329+2927T>G
6g.33443679A>GCA363631372SYNGAP1,SYNGAP1-AS1c.2869A>G (p.Arg957Gly)
c.3127A>G (p.Arg1043Gly)
c.3085A>G (p.Arg1029Gly)
c.2950A>G (p.Arg984Gly)
c.3082A>G (p.Arg1028Gly)
n.329+2927T>C
6g.33443679A>TCA363631375SYNGAP1,SYNGAP1-AS1c.2869A>T (p.Arg957Trp)
c.3127A>T (p.Arg1043Trp)
c.3085A>T (p.Arg1029Trp)
c.2950A>T (p.Arg984Trp)
c.3082A>T (p.Arg1028Trp)
n.329+2927T>A
6g.33443680G>ACA3758986SYNGAP1,SYNGAP1-AS1c.2870G>A (p.Arg957Lys)
c.3128G>A (p.Arg1043Lys)
c.3086G>A (p.Arg1029Lys)
c.2951G>A (p.Arg984Lys)
c.3083G>A (p.Arg1028Lys)
n.329+2926C>T
 dbSNP ExAC gnomAD v2
6g.33443680G>CCA363631386SYNGAP1,SYNGAP1-AS1c.2870G>C (p.Arg957Thr)
c.3128G>C (p.Arg1043Thr)
c.3086G>C (p.Arg1029Thr)
c.2951G>C (p.Arg984Thr)
c.3083G>C (p.Arg1028Thr)
n.329+2926C>G
6g.33443680G=CA1620014734SYNGAP1,SYNGAP1-AS1c.2870G= (p.Arg957=)
c.3128G= (p.Arg1043=)
c.3086G= (p.Arg1029=)
c.2951G= (p.Arg984=)
c.3083G= (p.Arg1028=)
n.329+2926C=
6g.33443680G>TCA363631389SYNGAP1,SYNGAP1-AS1c.2870G>T (p.Arg957Met)
c.3128G>T (p.Arg1043Met)
c.3086G>T (p.Arg1029Met)
c.2951G>T (p.Arg984Met)
c.3083G>T (p.Arg1028Met)
n.329+2926C>A
6g.33443681G>ACA450104264SYNGAP1,SYNGAP1-AS1c.2871G>A (p.Arg957=)
c.3129G>A (p.Arg1043=)
c.3087G>A (p.Arg1029=)
c.2952G>A (p.Arg984=)
c.3084G>A (p.Arg1028=)
n.329+2925C>T
 dbSNP gnomAD v2 gnomAD v4
6g.33443681G>CCA363631390SYNGAP1,SYNGAP1-AS1c.2871G>C (p.Arg957Ser)
c.3129G>C (p.Arg1043Ser)
c.3087G>C (p.Arg1029Ser)
c.2952G>C (p.Arg984Ser)
c.3084G>C (p.Arg1028Ser)
n.329+2925C>G
6g.33443681G=CA1620014735SYNGAP1,SYNGAP1-AS1c.2871G= (p.Arg957=)
c.3129G= (p.Arg1043=)
c.3087G= (p.Arg1029=)
c.2952G= (p.Arg984=)
c.3084G= (p.Arg1028=)
n.329+2925C=
6g.33443681G>TCA363631391SYNGAP1,SYNGAP1-AS1c.2871G>T (p.Arg957Ser)
c.3129G>T (p.Arg1043Ser)
c.3087G>T (p.Arg1029Ser)
c.2952G>T (p.Arg984Ser)
c.3084G>T (p.Arg1028Ser)
n.329+2925C>A
 gnomAD v4
6g.33443682C>ACA363631393SYNGAP1,SYNGAP1-AS1c.2872C>A (p.Pro958Thr)
c.3130C>A (p.Pro1044Thr)
c.3088C>A (p.Pro1030Thr)
c.2953C>A (p.Pro985Thr)
c.3085C>A (p.Pro1029Thr)
n.329+2924G>T
 dbSNP gnomAD v2 gnomAD v4
6g.33443682C=CA1620014736SYNGAP1,SYNGAP1-AS1c.2872C= (p.Pro958=)
c.3130C= (p.Pro1044=)
c.3088C= (p.Pro1030=)
c.2953C= (p.Pro985=)
c.3085C= (p.Pro1029=)
n.329+2924G=
6g.33443682C>GCA363631406SYNGAP1,SYNGAP1-AS1c.2872C>G (p.Pro958Ala)
c.3130C>G (p.Pro1044Ala)
c.3088C>G (p.Pro1030Ala)
c.2953C>G (p.Pro985Ala)
c.3085C>G (p.Pro1029Ala)
n.329+2924G>C
6g.33443682C>TCA363631394SYNGAP1,SYNGAP1-AS1c.2872C>T (p.Pro958Ser)
c.3130C>T (p.Pro1044Ser)
c.3088C>T (p.Pro1030Ser)
c.2953C>T (p.Pro985Ser)
c.3085C>T (p.Pro1029Ser)
n.329+2924G>A
6g.33443683C>ACA363631409SYNGAP1,SYNGAP1-AS1c.2873C>A (p.Pro958Gln)
c.3131C>A (p.Pro1044Gln)
c.3089C>A (p.Pro1030Gln)
c.2954C>A (p.Pro985Gln)
c.3086C>A (p.Pro1029Gln)
n.329+2923G>T
6g.33443683C>GCA363631410SYNGAP1,SYNGAP1-AS1c.2873C>G (p.Pro958Arg)
c.3131C>G (p.Pro1044Arg)
c.3089C>G (p.Pro1030Arg)
c.2954C>G (p.Pro985Arg)
c.3086C>G (p.Pro1029Arg)
n.329+2923G>C
6g.33443683C>TCA363631412SYNGAP1,SYNGAP1-AS1c.2873C>T (p.Pro958Leu)
c.3131C>T (p.Pro1044Leu)
c.3089C>T (p.Pro1030Leu)
c.2954C>T (p.Pro985Leu)
c.3086C>T (p.Pro1029Leu)
n.329+2923G>A
6g.33443684A>CCA450104267SYNGAP1,SYNGAP1-AS1c.2874A>C (p.Pro958=)
c.3132A>C (p.Pro1044=)
c.3090A>C (p.Pro1030=)
c.2955A>C (p.Pro985=)
c.3087A>C (p.Pro1029=)
n.329+2922T>G
6g.33443684A>GCA450104265SYNGAP1,SYNGAP1-AS1c.2874A>G (p.Pro958=)
c.3132A>G (p.Pro1044=)
c.3090A>G (p.Pro1030=)
c.2955A>G (p.Pro985=)
c.3087A>G (p.Pro1029=)
n.329+2922T>C
6g.33443684A>TCA450104266SYNGAP1,SYNGAP1-AS1c.2874A>T (p.Pro958=)
c.3132A>T (p.Pro1044=)
c.3090A>T (p.Pro1030=)
c.2955A>T (p.Pro985=)
c.3087A>T (p.Pro1029=)
n.329+2922T>A
6g.33443685delCA2573140293SYNGAP1,SYNGAP1-AS1c.2875del (p.Ala959ProfsTer?)
c.3133del (p.Ala1045ProfsTer?)
c.3091del (p.Ala1031ProfsTer?)
c.2956del (p.Ala986ProfsTer?)
c.3088del (p.Ala1030ProfsTer?)
n.329+2921del
 ClinVar dbSNP
6g.33443685G>ACA363631418SYNGAP1,SYNGAP1-AS1c.2875G>A (p.Ala959Thr)
c.3133G>A (p.Ala1045Thr)
c.3091G>A (p.Ala1031Thr)
c.2956G>A (p.Ala986Thr)
c.3088G>A (p.Ala1030Thr)
n.329+2921C>T
6g.33443685G>CCA363631423SYNGAP1,SYNGAP1-AS1c.2875G>C (p.Ala959Pro)
c.3133G>C (p.Ala1045Pro)
c.3091G>C (p.Ala1031Pro)
c.2956G>C (p.Ala986Pro)
c.3088G>C (p.Ala1030Pro)
n.329+2921C>G
6g.33443685G>TCA363631427SYNGAP1,SYNGAP1-AS1c.2875G>T (p.Ala959Ser)
c.3133G>T (p.Ala1045Ser)
c.3091G>T (p.Ala1031Ser)
c.2956G>T (p.Ala986Ser)
c.3088G>T (p.Ala1030Ser)
n.329+2921C>A
6g.33443686C>ACA363631432SYNGAP1,SYNGAP1-AS1c.2876C>A (p.Ala959Asp)
c.3134C>A (p.Ala1045Asp)
c.3092C>A (p.Ala1031Asp)
c.2957C>A (p.Ala986Asp)
c.3089C>A (p.Ala1030Asp)
n.329+2920G>T
6g.33443686C=CA1620014737SYNGAP1,SYNGAP1-AS1c.2876C= (p.Ala959=)
c.3134C= (p.Ala1045=)
c.3092C= (p.Ala1031=)
c.2957C= (p.Ala986=)
c.3089C= (p.Ala1030=)
n.329+2920G=
6g.33443686C>GCA3758987SYNGAP1,SYNGAP1-AS1c.2876C>G (p.Ala959Gly)
c.3134C>G (p.Ala1045Gly)
c.3092C>G (p.Ala1031Gly)
c.2957C>G (p.Ala986Gly)
c.3089C>G (p.Ala1030Gly)
n.329+2920G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
6g.33443686C>TCA363631437SYNGAP1,SYNGAP1-AS1c.2876C>T (p.Ala959Val)
c.3134C>T (p.Ala1045Val)
c.3092C>T (p.Ala1031Val)
c.2957C>T (p.Ala986Val)
c.3089C>T (p.Ala1030Val)
n.329+2920G>A
6g.33443690delCA2499218229SYNGAP1,SYNGAP1-AS1c.2880del (p.Ser961GlnfsTer?)
c.3138del (p.Ser1047GlnfsTer?)
c.3096del (p.Ser1033GlnfsTer?)
c.2961del (p.Ser988GlnfsTer?)
c.3093del (p.Ser1032GlnfsTer?)
n.329+2920del
 ClinVar dbSNP
6g.33443687C>ACA450104268SYNGAP1,SYNGAP1-AS1c.2877C>A (p.Ala959=)
c.3135C>A (p.Ala1045=)
c.3093C>A (p.Ala1031=)
c.2958C>A (p.Ala986=)
c.3090C>A (p.Ala1030=)
n.329+2919G>T
6g.33443687C=CA1620014738SYNGAP1,SYNGAP1-AS1c.2877C= (p.Ala959=)
c.3135C= (p.Ala1045=)
c.3093C= (p.Ala1031=)
c.2958C= (p.Ala986=)
c.3090C= (p.Ala1030=)
n.329+2919G=
6g.33443687C>GCA450104269SYNGAP1,SYNGAP1-AS1c.2877C>G (p.Ala959=)
c.3135C>G (p.Ala1045=)
c.3093C>G (p.Ala1031=)
c.2958C>G (p.Ala986=)
c.3090C>G (p.Ala1030=)
n.329+2919G>C
6g.33443687C>TCA450104270SYNGAP1,SYNGAP1-AS1c.2877C>T (p.Ala959=)
c.3135C>T (p.Ala1045=)
c.3093C>T (p.Ala1031=)
c.2958C>T (p.Ala986=)
c.3090C>T (p.Ala1030=)
n.329+2919G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
6g.33443688C>ACA363631442SYNGAP1,SYNGAP1-AS1c.2878C>A (p.Pro960Thr)
c.3136C>A (p.Pro1046Thr)
c.3094C>A (p.Pro1032Thr)
c.2959C>A (p.Pro987Thr)
c.3091C>A (p.Pro1031Thr)
n.329+2918G>T
6g.33443688C=CA1620014739SYNGAP1,SYNGAP1-AS1c.2878C= (p.Pro960=)
c.3136C= (p.Pro1046=)
c.3094C= (p.Pro1032=)
c.2959C= (p.Pro987=)
c.3091C= (p.Pro1031=)
n.329+2918G=
6g.33443688C>GCA363631445SYNGAP1,SYNGAP1-AS1c.2878C>G (p.Pro960Ala)
c.3136C>G (p.Pro1046Ala)
c.3094C>G (p.Pro1032Ala)
c.2959C>G (p.Pro987Ala)
c.3091C>G (p.Pro1031Ala)
n.329+2918G>C
 dbSNP gnomAD v3 gnomAD v4
6g.33443688C>TCA363631448SYNGAP1,SYNGAP1-AS1c.2878C>T (p.Pro960Ser)
c.3136C>T (p.Pro1046Ser)
c.3094C>T (p.Pro1032Ser)
c.2959C>T (p.Pro987Ser)
c.3091C>T (p.Pro1031Ser)
n.329+2918G>A
6g.33443688_33443689delinsTACA645559127SYNGAP1,SYNGAP1-AS1c.2878_2879delinsTA (p.Pro960Tyr)
c.3136_3137delinsTA (p.Pro1046Tyr)
c.3094_3095delinsTA (p.Pro1032Tyr)
c.2959_2960delinsTA (p.Pro987Tyr)
c.3091_3092delinsTA (p.Pro1031Tyr)
n.329+2917_329+2918delinsTA
 COSMIC COSMIC
6g.33443689C>ACA363631449SYNGAP1,SYNGAP1-AS1c.2879C>A (p.Pro960His)
c.3137C>A (p.Pro1046His)
c.3095C>A (p.Pro1032His)
c.2960C>A (p.Pro987His)
c.3092C>A (p.Pro1031His)
n.329+2917G>T
6g.33443689C>GCA363631453SYNGAP1,SYNGAP1-AS1c.2879C>G (p.Pro960Arg)
c.3137C>G (p.Pro1046Arg)
c.3095C>G (p.Pro1032Arg)
c.2960C>G (p.Pro987Arg)
c.3092C>G (p.Pro1031Arg)
n.329+2917G>C
6g.33443689C>TCA363631450SYNGAP1,SYNGAP1-AS1c.2879C>T (p.Pro960Leu)
c.3137C>T (p.Pro1046Leu)
c.3095C>T (p.Pro1032Leu)
c.2960C>T (p.Pro987Leu)
c.3092C>T (p.Pro1031Leu)
n.329+2917G>A
 gnomAD v4
6g.33443690C>ACA450104271SYNGAP1,SYNGAP1-AS1c.2880C>A (p.Pro960=)
c.3138C>A (p.Pro1046=)
c.3096C>A (p.Pro1032=)
c.2961C>A (p.Pro987=)
c.3093C>A (p.Pro1031=)
n.329+2916G>T
6g.33443690C>GCA450104273SYNGAP1,SYNGAP1-AS1c.2880C>G (p.Pro960=)
c.3138C>G (p.Pro1046=)
c.3096C>G (p.Pro1032=)
c.2961C>G (p.Pro987=)
c.3093C>G (p.Pro1031=)
n.329+2916G>C
6g.33443690C>TCA450104272SYNGAP1,SYNGAP1-AS1c.2880C>T (p.Pro960=)
c.3138C>T (p.Pro1046=)
c.3096C>T (p.Pro1032=)
c.2961C>T (p.Pro987=)
c.3093C>T (p.Pro1031=)
n.329+2916G>A
6g.33443691T>ACA363631457SYNGAP1,SYNGAP1-AS1c.2881T>A (p.Ser961Thr)
c.3139T>A (p.Ser1047Thr)
c.3097T>A (p.Ser1033Thr)
c.2962T>A (p.Ser988Thr)
c.3094T>A (p.Ser1032Thr)
n.329+2915A>T
6g.33443691T>CCA363631461SYNGAP1,SYNGAP1-AS1c.2881T>C (p.Ser961Pro)
c.3139T>C (p.Ser1047Pro)
c.3097T>C (p.Ser1033Pro)
c.2962T>C (p.Ser988Pro)
c.3094T>C (p.Ser1032Pro)
n.329+2915A>G
 dbSNP
6g.33443691T>GCA363631467SYNGAP1,SYNGAP1-AS1c.2881T>G (p.Ser961Ala)
c.3139T>G (p.Ser1047Ala)
c.3097T>G (p.Ser1033Ala)
c.2962T>G (p.Ser988Ala)
c.3094T>G (p.Ser1032Ala)
n.329+2915A>C
6g.33443691T=CA1620014740SYNGAP1,SYNGAP1-AS1c.2881T= (p.Ser961=)
c.3139T= (p.Ser1047=)
c.3097T= (p.Ser1033=)
c.2962T= (p.Ser988=)
c.3094T= (p.Ser1032=)
n.329+2915A=
6g.33443692C>ACA363631482SYNGAP1,SYNGAP1-AS1c.2882C>A (p.Ser961Ter)
c.3140C>A (p.Ser1047Ter)
c.3098C>A (p.Ser1033Ter)
c.2963C>A (p.Ser988Ter)
c.3095C>A (p.Ser1032Ter)
n.329+2914G>T
6g.33443692C>GCA363631501SYNGAP1,SYNGAP1-AS1c.2882C>G (p.Ser961Ter)
c.3140C>G (p.Ser1047Ter)
c.3098C>G (p.Ser1033Ter)
c.2963C>G (p.Ser988Ter)
c.3095C>G (p.Ser1032Ter)
n.329+2914G>C
6g.33443692C>TCA363631507SYNGAP1,SYNGAP1-AS1c.2882C>T (p.Ser961Leu)
c.3140C>T (p.Ser1047Leu)
c.3098C>T (p.Ser1033Leu)
c.2963C>T (p.Ser988Leu)
c.3095C>T (p.Ser1032Leu)
n.329+2914G>A
 gnomAD v4
6g.33443693A>CCA450104274SYNGAP1,SYNGAP1-AS1c.2883A>C (p.Ser961=)
c.3141A>C (p.Ser1047=)
c.3099A>C (p.Ser1033=)
c.2964A>C (p.Ser988=)
c.3096A>C (p.Ser1032=)
n.329+2913T>G
6g.33443693A>GCA450104275SYNGAP1,SYNGAP1-AS1c.2883A>G (p.Ser961=)
c.3141A>G (p.Ser1047=)
c.3099A>G (p.Ser1033=)
c.2964A>G (p.Ser988=)
c.3096A>G (p.Ser1032=)
n.329+2913T>C
6g.33443693A>TCA450104276SYNGAP1,SYNGAP1-AS1c.2883A>T (p.Ser961=)
c.3141A>T (p.Ser1047=)
c.3099A>T (p.Ser1033=)
c.2964A>T (p.Ser988=)
c.3096A>T (p.Ser1032=)
n.329+2913T>A
 gnomAD v4
6g.33443693_33443694delCA2573140294SYNGAP1,SYNGAP1-AS1c.2883_2884del (p.Gly962AlafsTer?)
c.3141_3142del (p.Gly1048AlafsTer?)
c.3099_3100del (p.Gly1034AlafsTer?)
c.2964_2965del (p.Gly989AlafsTer?)
c.3096_3097del (p.Gly1033AlafsTer?)
n.329+2912_329+2913del
 ClinVar dbSNP
6g.33443694G>ACA363631520SYNGAP1,SYNGAP1-AS1c.2884G>A (p.Gly962Arg)
c.3142G>A (p.Gly1048Arg)
c.3100G>A (p.Gly1034Arg)
c.2965G>A (p.Gly989Arg)
c.3097G>A (p.Gly1033Arg)
n.329+2912C>T
6g.33443694G>CCA363631522SYNGAP1,SYNGAP1-AS1c.2884G>C (p.Gly962Arg)
c.3142G>C (p.Gly1048Arg)
c.3100G>C (p.Gly1034Arg)
c.2965G>C (p.Gly989Arg)
c.3097G>C (p.Gly1033Arg)
n.329+2912C>G
 ClinVar
6g.33443694G=CA1620014741SYNGAP1,SYNGAP1-AS1c.2884G= (p.Gly962=)
c.3142G= (p.Gly1048=)
c.3100G= (p.Gly1034=)
c.2965G= (p.Gly989=)
c.3097G= (p.Gly1033=)
n.329+2912C=
6g.33443694G>TCA137073346SYNGAP1,SYNGAP1-AS1c.2884G>T (p.Gly962Trp)
c.3142G>T (p.Gly1048Trp)
c.3100G>T (p.Gly1034Trp)
c.2965G>T (p.Gly989Trp)
c.3097G>T (p.Gly1033Trp)
n.329+2912C>A
 dbSNP
6g.33443695G>ACA363631527SYNGAP1,SYNGAP1-AS1c.2885G>A (p.Gly962Glu)
c.3143G>A (p.Gly1048Glu)
c.3101G>A (p.Gly1034Glu)
c.2966G>A (p.Gly989Glu)
c.3098G>A (p.Gly1033Glu)
n.329+2911C>T
6g.33443695G>CCA363631529SYNGAP1,SYNGAP1-AS1c.2885G>C (p.Gly962Ala)
c.3143G>C (p.Gly1048Ala)
c.3101G>C (p.Gly1034Ala)
c.2966G>C (p.Gly989Ala)
c.3098G>C (p.Gly1033Ala)
n.329+2911C>G
6g.33443695G>TCA363631525SYNGAP1,SYNGAP1-AS1c.2885G>T (p.Gly962Val)
c.3143G>T (p.Gly1048Val)
c.3101G>T (p.Gly1034Val)
c.2966G>T (p.Gly989Val)
c.3098G>T (p.Gly1033Val)
n.329+2911C>A
6g.33443696G>ACA450104277SYNGAP1,SYNGAP1-AS1c.2886G>A (p.Gly962=)
c.3144G>A (p.Gly1048=)
c.3102G>A (p.Gly1034=)
c.2967G>A (p.Gly989=)
c.3099G>A (p.Gly1033=)
n.329+2910C>T
6g.33443696G>CCA450104278SYNGAP1,SYNGAP1-AS1c.2886G>C (p.Gly962=)
c.3144G>C (p.Gly1048=)
c.3102G>C (p.Gly1034=)
c.2967G>C (p.Gly989=)
c.3099G>C (p.Gly1033=)
n.329+2910C>G
6g.33443696G>TCA450104279SYNGAP1,SYNGAP1-AS1c.2886G>T (p.Gly962=)
c.3144G>T (p.Gly1048=)
c.3102G>T (p.Gly1034=)
c.2967G>T (p.Gly989=)
c.3099G>T (p.Gly1033=)
n.329+2910C>A
6g.33443697C>ACA363631533SYNGAP1,SYNGAP1-AS1c.2887C>A (p.Pro963Thr)
c.3145C>A (p.Pro1049Thr)
c.3103C>A (p.Pro1035Thr)
c.2968C>A (p.Pro990Thr)
c.3100C>A (p.Pro1034Thr)
n.329+2909G>T
6g.33443697C=CA1620014742SYNGAP1,SYNGAP1-AS1c.2887C= (p.Pro963=)
c.3145C= (p.Pro1049=)
c.3103C= (p.Pro1035=)
c.2968C= (p.Pro990=)
c.3100C= (p.Pro1034=)
n.329+2909G=
6g.33443697C>GCA363631535SYNGAP1,SYNGAP1-AS1c.2887C>G (p.Pro963Ala)
c.3145C>G (p.Pro1049Ala)
c.3103C>G (p.Pro1035Ala)
c.2968C>G (p.Pro990Ala)
c.3100C>G (p.Pro1034Ala)
n.329+2909G>C
6g.33443697C>TCA363631536SYNGAP1,SYNGAP1-AS1c.2887C>T (p.Pro963Ser)
c.3145C>T (p.Pro1049Ser)
c.3103C>T (p.Pro1035Ser)
c.2968C>T (p.Pro990Ser)
c.3100C>T (p.Pro1034Ser)
n.329+2909G>A
 dbSNP gnomAD v2 gnomAD v4
6g.33443698C>ACA363631539SYNGAP1,SYNGAP1-AS1c.2888C>A (p.Pro963His)
c.3146C>A (p.Pro1049His)
c.3104C>A (p.Pro1035His)
c.2969C>A (p.Pro990His)
c.3101C>A (p.Pro1034His)
n.329+2908G>T
6g.33443698C>GCA363631543SYNGAP1,SYNGAP1-AS1c.2888C>G (p.Pro963Arg)
c.3146C>G (p.Pro1049Arg)
c.3104C>G (p.Pro1035Arg)
c.2969C>G (p.Pro990Arg)
c.3101C>G (p.Pro1034Arg)
n.329+2908G>C
6g.33443698C>TCA363631551SYNGAP1,SYNGAP1-AS1c.2888C>T (p.Pro963Leu)
c.3146C>T (p.Pro1049Leu)
c.3104C>T (p.Pro1035Leu)
c.2969C>T (p.Pro990Leu)
c.3101C>T (p.Pro1034Leu)
n.329+2908G>A
6g.33443699T>ACA450104282SYNGAP1,SYNGAP1-AS1c.2889T>A (p.Pro963=)
c.3147T>A (p.Pro1049=)
c.3105T>A (p.Pro1035=)
c.2970T>A (p.Pro990=)
c.3102T>A (p.Pro1034=)
n.329+2907A>T
6g.33443699T>CCA450104281SYNGAP1,SYNGAP1-AS1c.2889T>C (p.Pro963=)
c.3147T>C (p.Pro1049=)
c.3105T>C (p.Pro1035=)
c.2970T>C (p.Pro990=)
c.3102T>C (p.Pro1034=)
n.329+2907A>G
6g.33443699T>GCA450104280SYNGAP1,SYNGAP1-AS1c.2889T>G (p.Pro963=)
c.3147T>G (p.Pro1049=)
c.3105T>G (p.Pro1035=)
c.2970T>G (p.Pro990=)
c.3102T>G (p.Pro1034=)
n.329+2907A>C
6g.33443700G>ACA363631554SYNGAP1,SYNGAP1-AS1c.2890G>A (p.Gly964Arg)
c.3148G>A (p.Gly1050Arg)
c.3106G>A (p.Gly1036Arg)
c.2971G>A (p.Gly991Arg)
c.3103G>A (p.Gly1035Arg)
n.329+2906C>T
 dbSNP gnomAD v4
6g.33443700G>CCA363631559SYNGAP1,SYNGAP1-AS1c.2890G>C (p.Gly964Arg)
c.3148G>C (p.Gly1050Arg)
c.3106G>C (p.Gly1036Arg)
c.2971G>C (p.Gly991Arg)
c.3103G>C (p.Gly1035Arg)
n.329+2906C>G
6g.33443700G>TCA363631560SYNGAP1,SYNGAP1-AS1c.2890G>T (p.Gly964Ter)
c.3148G>T (p.Gly1050Ter)
c.3106G>T (p.Gly1036Ter)
c.2971G>T (p.Gly991Ter)
c.3103G>T (p.Gly1035Ter)
n.329+2906C>A
6g.33443701G>ACA363631561SYNGAP1,SYNGAP1-AS1c.2891G>A (p.Gly964Glu)
c.3149G>A (p.Gly1050Glu)
c.3107G>A (p.Gly1036Glu)
c.2972G>A (p.Gly991Glu)
c.3104G>A (p.Gly1035Glu)
n.329+2905C>T
6g.33443701G>CCA363631563SYNGAP1,SYNGAP1-AS1c.2891G>C (p.Gly964Ala)
c.3149G>C (p.Gly1050Ala)
c.3107G>C (p.Gly1036Ala)
c.2972G>C (p.Gly991Ala)
c.3104G>C (p.Gly1035Ala)
n.329+2905C>G
6g.33443701G>TCA363631566SYNGAP1,SYNGAP1-AS1c.2891G>T (p.Gly964Val)
c.3149G>T (p.Gly1050Val)
c.3107G>T (p.Gly1036Val)
c.2972G>T (p.Gly991Val)
c.3104G>T (p.Gly1035Val)
n.329+2905C>A
6g.33443702A>CCA450104283SYNGAP1,SYNGAP1-AS1c.2892A>C (p.Gly964=)
c.3150A>C (p.Gly1050=)
c.3108A>C (p.Gly1036=)
c.2973A>C (p.Gly991=)
c.3105A>C (p.Gly1035=)
n.329+2904T>G
6g.33443702A>GCA450104284SYNGAP1,SYNGAP1-AS1c.2892A>G (p.Gly964=)
c.3150A>G (p.Gly1050=)
c.3108A>G (p.Gly1036=)
c.2973A>G (p.Gly991=)
c.3105A>G (p.Gly1035=)
n.329+2904T>C
6g.33443702A>TCA450104285SYNGAP1,SYNGAP1-AS1c.2892A>T (p.Gly964=)
c.3150A>T (p.Gly1050=)
c.3108A>T (p.Gly1036=)
c.2973A>T (p.Gly991=)
c.3105A>T (p.Gly1035=)
n.329+2904T>A
 dbSNP gnomAD v3 gnomAD v4
6g.33443702_33443723delinsAGGTGGGAGCGGTGGGGGCAGCCA1620014743SYNGAP1,SYNGAP1-AS1c.2892_2913delinsAGGTGGGAGCGGTGGGGGCAGC (p.Gly964=)
c.3150_3171delinsAGGTGGGAGCGGTGGGGGCAGC (p.Gly1050=)
c.3108_3129delinsAGGTGGGAGCGGTGGGGGCAGC (p.Gly1036=)
c.2973_2994delinsAGGTGGGAGCGGTGGGGGCAGC (p.Gly991=)
c.3105_3126delinsAGGTGGGAGCGGTGGGGGCAGC (p.Gly1035=)
n.329+2883_329+2904delinsGCTGCCCCCACCGCTCCCACCT
6g.33443703G>ACA363631575SYNGAP1,SYNGAP1-AS1c.2893G>A (p.Gly965Ser)
c.3151G>A (p.Gly1051Ser)
c.3109G>A (p.Gly1037Ser)
c.2974G>A (p.Gly992Ser)
c.3106G>A (p.Gly1036Ser)
n.329+2903C>T
6g.33443703G>CCA363631584SYNGAP1,SYNGAP1-AS1c.2893G>C (p.Gly965Arg)
c.3151G>C (p.Gly1051Arg)
c.3109G>C (p.Gly1037Arg)
c.2974G>C (p.Gly992Arg)
c.3106G>C (p.Gly1036Arg)
n.329+2903C>G
6g.33443703G=CA1620014744SYNGAP1,SYNGAP1-AS1c.2893G= (p.Gly965=)
c.3151G= (p.Gly1051=)
c.3109G= (p.Gly1037=)
c.2974G= (p.Gly992=)
c.3106G= (p.Gly1036=)
n.329+2903C=
6g.33443703G>TCA363631571SYNGAP1,SYNGAP1-AS1c.2893G>T (p.Gly965Cys)
c.3151G>T (p.Gly1051Cys)
c.3109G>T (p.Gly1037Cys)
c.2974G>T (p.Gly992Cys)
c.3106G>T (p.Gly1036Cys)
n.329+2903C>A
 ClinVar dbSNP
6g.33443709_33443729delCA824041091SYNGAP1,SYNGAP1-AS1c.2899_2919del (p.Ser967_Gly973del)
c.3157_3177del (p.Ser1053_Gly1059del)
c.3115_3135del (p.Ser1039_Gly1045del)
c.2980_3000del (p.Ser994_Gly1000del)
c.3112_3132del (p.Ser1038_Gly1044del)
n.329+2883_329+2903del
 dbSNP
6g.33443704G>ACA363631587SYNGAP1,SYNGAP1-AS1c.2894G>A (p.Gly965Asp)
c.3152G>A (p.Gly1051Asp)
c.3110G>A (p.Gly1037Asp)
c.2975G>A (p.Gly992Asp)
c.3107G>A (p.Gly1036Asp)
n.329+2902C>T
 gnomAD v4
6g.33443704G>CCA363631590SYNGAP1,SYNGAP1-AS1c.2894G>C (p.Gly965Ala)
c.3152G>C (p.Gly1051Ala)
c.3110G>C (p.Gly1037Ala)
c.2975G>C (p.Gly992Ala)
c.3107G>C (p.Gly1036Ala)
n.329+2902C>G
6g.33443704G>TCA363631594SYNGAP1,SYNGAP1-AS1c.2894G>T (p.Gly965Val)
c.3152G>T (p.Gly1051Val)
c.3110G>T (p.Gly1037Val)
c.2975G>T (p.Gly992Val)
c.3107G>T (p.Gly1036Val)
n.329+2902C>A
 gnomAD v4
6g.33443705T>ACA450104286SYNGAP1,SYNGAP1-AS1c.2895T>A (p.Gly965=)
c.3153T>A (p.Gly1051=)
c.3111T>A (p.Gly1037=)
c.2976T>A (p.Gly992=)
c.3108T>A (p.Gly1036=)
n.329+2901A>T
6g.33443705T>CCA450104287SYNGAP1,SYNGAP1-AS1c.2895T>C (p.Gly965=)
c.3153T>C (p.Gly1051=)
c.3111T>C (p.Gly1037=)
c.2976T>C (p.Gly992=)
c.3108T>C (p.Gly1036=)
n.329+2901A>G
6g.33443705T>GCA450104288SYNGAP1,SYNGAP1-AS1c.2895T>G (p.Gly965=)
c.3153T>G (p.Gly1051=)
c.3111T>G (p.Gly1037=)
c.2976T>G (p.Gly992=)
c.3108T>G (p.Gly1036=)
n.329+2901A>C
6g.33443705_33443717delinsTGGGAGCGGTGGGCA1620014745SYNGAP1,SYNGAP1-AS1c.2895_2907delinsTGGGAGCGGTGGG (p.Gly965=)
c.3153_3165delinsTGGGAGCGGTGGG (p.Gly1051=)
c.3111_3123delinsTGGGAGCGGTGGG (p.Gly1037=)
c.2976_2988delinsTGGGAGCGGTGGG (p.Gly992=)
c.3108_3120delinsTGGGAGCGGTGGG (p.Gly1036=)
n.329+2889_329+2901delinsCCCACCGCTCCCA
6g.33443706G>ACA363631596SYNGAP1,SYNGAP1-AS1c.2896G>A (p.Gly966Arg)
c.3154G>A (p.Gly1052Arg)
c.3112G>A (p.Gly1038Arg)
c.2977G>A (p.Gly993Arg)
c.3109G>A (p.Gly1037Arg)
n.329+2900C>T
 ClinVar
6g.33443706G>CCA363631598SYNGAP1,SYNGAP1-AS1c.2896G>C (p.Gly966Arg)
c.3154G>C (p.Gly1052Arg)
c.3112G>C (p.Gly1038Arg)
c.2977G>C (p.Gly993Arg)
c.3109G>C (p.Gly1037Arg)
n.329+2900C>G
6g.33443706G>TCA363631600SYNGAP1,SYNGAP1-AS1c.2896G>T (p.Gly966Trp)
c.3154G>T (p.Gly1052Trp)
c.3112G>T (p.Gly1038Trp)
c.2977G>T (p.Gly993Trp)
c.3109G>T (p.Gly1037Trp)
n.329+2900C>A
6g.33443708_33443719dupCA2573140295SYNGAP1,SYNGAP1-AS1c.2898_2909dup (p.Gly970_Ser971insSerGlyGlyGly)
c.3156_3167dup (p.Gly1056_Ser1057insSerGlyGlyGly)
c.3114_3125dup (p.Gly1042_Ser1043insSerGlyGlyGly)
c.2979_2990dup (p.Gly997_Ser998insSerGlyGlyGly)
c.3111_3122dup (p.Gly1041_Ser1042insSerGlyGlyGly)
n.329+2889_329+2900dup
 ClinVar dbSNP gnomAD v4
6g.33443708_33443719delCA566700715SYNGAP1,SYNGAP1-AS1c.2898_2909del (p.Ser967_Gly970del)
c.3156_3167del (p.Ser1053_Gly1056del)
c.3114_3125del (p.Ser1039_Gly1042del)
c.2979_2990del (p.Ser994_Gly997del)
c.3111_3122del (p.Ser1038_Gly1041del)
n.329+2889_329+2900del
 ClinVar dbSNP gnomAD v2 gnomAD v4
6g.33443707G>ACA363631604SYNGAP1,SYNGAP1-AS1c.2897G>A (p.Gly966Glu)
c.3155G>A (p.Gly1052Glu)
c.3113G>A (p.Gly1038Glu)
c.2978G>A (p.Gly993Glu)
c.3110G>A (p.Gly1037Glu)
n.329+2899C>T
6g.33443707G>CCA363631620SYNGAP1,SYNGAP1-AS1c.2897G>C (p.Gly966Ala)
c.3155G>C (p.Gly1052Ala)
c.3113G>C (p.Gly1038Ala)
c.2978G>C (p.Gly993Ala)
c.3110G>C (p.Gly1037Ala)
n.329+2899C>G
6g.33443707G>TCA363631612SYNGAP1,SYNGAP1-AS1c.2897G>T (p.Gly966Val)
c.3155G>T (p.Gly1052Val)
c.3113G>T (p.Gly1038Val)
c.2978G>T (p.Gly993Val)
c.3110G>T (p.Gly1037Val)
n.329+2899C>A
6g.33443708G>ACA3758989SYNGAP1,SYNGAP1-AS1c.2898G>A (p.Gly966=)
c.3156G>A (p.Gly1052=)
c.3114G>A (p.Gly1038=)
c.2979G>A (p.Gly993=)
c.3111G>A (p.Gly1037=)
n.329+2898C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.33443708G>CCA450104289SYNGAP1,SYNGAP1-AS1c.2898G>C (p.Gly966=)
c.3156G>C (p.Gly1052=)
c.3114G>C (p.Gly1038=)
c.2979G>C (p.Gly993=)
c.3111G>C (p.Gly1037=)
n.329+2898C>G
6g.33443708G=CA1620014746SYNGAP1,SYNGAP1-AS1c.2898G= (p.Gly966=)
c.3156G= (p.Gly1052=)
c.3114G= (p.Gly1038=)
c.2979G= (p.Gly993=)
c.3111G= (p.Gly1037=)
n.329+2898C=
6g.33443708G>TCA450104290SYNGAP1,SYNGAP1-AS1c.2898G>T (p.Gly966=)
c.3156G>T (p.Gly1052=)
c.3114G>T (p.Gly1038=)
c.2979G>T (p.Gly993=)
c.3111G>T (p.Gly1037=)
n.329+2898C>A
6g.33443708_33443720delinsGAGCGGTGGGGGCCA1620014747SYNGAP1,SYNGAP1-AS1c.2898_2910delinsGAGCGGTGGGGGC (p.Gly966=)
c.3156_3168delinsGAGCGGTGGGGGC (p.Gly1052=)
c.3114_3126delinsGAGCGGTGGGGGC (p.Gly1038=)
c.2979_2991delinsGAGCGGTGGGGGC (p.Gly993=)
c.3111_3123delinsGAGCGGTGGGGGC (p.Gly1037=)
n.329+2886_329+2898delinsGCCCCCACCGCTC
6g.33443709A=CA1620014749SYNGAP1,SYNGAP1-AS1c.2899A= (p.Ser967=)
c.3157A= (p.Ser1053=)
c.3115A= (p.Ser1039=)
c.2980A= (p.Ser994=)
c.3112A= (p.Ser1038=)
n.329+2897T=
6g.33443709A>CCA363631632SYNGAP1,SYNGAP1-AS1c.2899A>C (p.Ser967Arg)
c.3157A>C (p.Ser1053Arg)
c.3115A>C (p.Ser1039Arg)
c.2980A>C (p.Ser994Arg)
c.3112A>C (p.Ser1038Arg)
n.329+2897T>G
6g.33443709A>GCA363631635SYNGAP1,SYNGAP1-AS1c.2899A>G (p.Ser967Gly)
c.3157A>G (p.Ser1053Gly)
c.3115A>G (p.Ser1039Gly)
c.2980A>G (p.Ser994Gly)
c.3112A>G (p.Ser1038Gly)
n.329+2897T>C
6g.33443709A>TCA363631648SYNGAP1,SYNGAP1-AS1c.2899A>T (p.Ser967Cys)
c.3157A>T (p.Ser1053Cys)
c.3115A>T (p.Ser1039Cys)
c.2980A>T (p.Ser994Cys)
c.3112A>T (p.Ser1038Cys)
n.329+2897T>A
 dbSNP gnomAD v3 gnomAD v4
6g.33443720_33443731dupCA1620014748SYNGAP1,SYNGAP1-AS1c.2910_2921dup (p.Gly974_Gly975insSerGlyGlyGly)
c.3168_3179dup (p.Gly1060_Gly1061insSerGlyGlyGly)
c.3126_3137dup (p.Gly1046_Gly1047insSerGlyGlyGly)
c.2991_3002dup (p.Gly1001_Gly1002insSerGlyGlyGly)
c.3123_3134dup (p.Gly1045_Gly1046insSerGlyGlyGly)
n.329+2886_329+2897dup
 dbSNP gnomAD v4
6g.33443720_33443731delCA3758988SYNGAP1,SYNGAP1-AS1c.2910_2921del (p.Ser971_Gly974del)
c.3168_3179del (p.Ser1057_Gly1060del)
c.3126_3137del (p.Ser1043_Gly1046del)
c.2991_3002del (p.Ser998_Gly1001del)
c.3123_3134del (p.Ser1042_Gly1045del)
n.329+2886_329+2897del
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.33443710G>ACA363631665SYNGAP1,SYNGAP1-AS1c.2900G>A (p.Ser967Asn)
c.3158G>A (p.Ser1053Asn)
c.3116G>A (p.Ser1039Asn)
c.2981G>A (p.Ser994Asn)
c.3113G>A (p.Ser1038Asn)
n.329+2896C>T
 gnomAD v4
6g.33443710G>CCA363631669SYNGAP1,SYNGAP1-AS1c.2900G>C (p.Ser967Thr)
c.3158G>C (p.Ser1053Thr)
c.3116G>C (p.Ser1039Thr)
c.2981G>C (p.Ser994Thr)
c.3113G>C (p.Ser1038Thr)
n.329+2896C>G
6g.33443710G=CA1620014751SYNGAP1,SYNGAP1-AS1c.2900G= (p.Ser967=)
c.3158G= (p.Ser1053=)
c.3116G= (p.Ser1039=)
c.2981G= (p.Ser994=)
c.3113G= (p.Ser1038=)
n.329+2896C=
6g.33443710G>TCA363631657SYNGAP1,SYNGAP1-AS1c.2900G>T (p.Ser967Ile)
c.3158G>T (p.Ser1053Ile)
c.3116G>T (p.Ser1039Ile)
c.2981G>T (p.Ser994Ile)
c.3113G>T (p.Ser1038Ile)
n.329+2896C>A
 dbSNP
6g.33443711_33443713dupCA1620014750SYNGAP1,SYNGAP1-AS1c.2901_2903dup (p.Gly968_Gly969insGly)
c.3159_3161dup (p.Gly1054_Gly1055insGly)
c.3117_3119dup (p.Gly1040_Gly1041insGly)
c.2982_2984dup (p.Gly995_Gly996insGly)
c.3114_3116dup (p.Gly1039_Gly1040insGly)
n.329+2894_329+2896dup
 dbSNP
6g.33443711C>ACA363631685SYNGAP1,SYNGAP1-AS1c.2901C>A (p.Ser967Arg)
c.3159C>A (p.Ser1053Arg)
c.3117C>A (p.Ser1039Arg)
c.2982C>A (p.Ser994Arg)
c.3114C>A (p.Ser1038Arg)
n.329+2895G>T
 gnomAD v4
6g.33443711C=CA1620014752SYNGAP1,SYNGAP1-AS1c.2901C= (p.Ser967=)
c.3159C= (p.Ser1053=)
c.3117C= (p.Ser1039=)
c.2982C= (p.Ser994=)
c.3114C= (p.Ser1038=)
n.329+2895G=
6g.33443711C>GCA363631680SYNGAP1,SYNGAP1-AS1c.2901C>G (p.Ser967Arg)
c.3159C>G (p.Ser1053Arg)
c.3117C>G (p.Ser1039Arg)
c.2982C>G (p.Ser994Arg)
c.3114C>G (p.Ser1038Arg)
n.329+2895G>C
 dbSNP gnomAD v3 gnomAD v4
6g.33443711C>TCA450104291SYNGAP1,SYNGAP1-AS1c.2901C>T (p.Ser967=)
c.3159C>T (p.Ser1053=)
c.3117C>T (p.Ser1039=)
c.2982C>T (p.Ser994=)
c.3114C>T (p.Ser1038=)
n.329+2895G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.33443712G>ACA3758990SYNGAP1,SYNGAP1-AS1c.2902G>A (p.Gly968Ser)
c.3160G>A (p.Gly1054Ser)
c.3118G>A (p.Gly1040Ser)
c.2983G>A (p.Gly995Ser)
c.3115G>A (p.Gly1039Ser)
n.329+2894C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.33443712G>CCA363631690SYNGAP1,SYNGAP1-AS1c.2902G>C (p.Gly968Arg)
c.3160G>C (p.Gly1054Arg)
c.3118G>C (p.Gly1040Arg)
c.2983G>C (p.Gly995Arg)
c.3115G>C (p.Gly1039Arg)
n.329+2894C>G
6g.33443712G=CA1620014753SYNGAP1,SYNGAP1-AS1c.2902G= (p.Gly968=)
c.3160G= (p.Gly1054=)
c.3118G= (p.Gly1040=)
c.2983G= (p.Gly995=)
c.3115G= (p.Gly1039=)
n.329+2894C=
6g.33443712G>TCA137073412SYNGAP1,SYNGAP1-AS1c.2902G>T (p.Gly968Cys)
c.3160G>T (p.Gly1054Cys)
c.3118G>T (p.Gly1040Cys)
c.2983G>T (p.Gly995Cys)
c.3115G>T (p.Gly1039Cys)
n.329+2894C>A
 dbSNP
6g.33443714_33443716dupCA2524139639SYNGAP1,SYNGAP1-AS1c.2904_2906dup (p.Gly969_Gly970insGly)
c.3162_3164dup (p.Gly1055_Gly1056insGly)
c.3120_3122dup (p.Gly1041_Gly1042insGly)
c.2985_2987dup (p.Gly996_Gly997insGly)
c.3117_3119dup (p.Gly1040_Gly1041insGly)
n.329+2892_329+2894dup
6g.33443713G>ACA363631698SYNGAP1,SYNGAP1-AS1c.2903G>A (p.Gly968Asp)
c.3161G>A (p.Gly1054Asp)
c.3119G>A (p.Gly1040Asp)
c.2984G>A (p.Gly995Asp)
c.3116G>A (p.Gly1039Asp)
n.329+2893C>T
 ClinVar dbSNP
6g.33443713G>CCA363631702SYNGAP1,SYNGAP1-AS1c.2903G>C (p.Gly968Ala)
c.3161G>C (p.Gly1054Ala)
c.3119G>C (p.Gly1040Ala)
c.2984G>C (p.Gly995Ala)
c.3116G>C (p.Gly1039Ala)
n.329+2893C>G
 dbSNP gnomAD v2 gnomAD v4
6g.33443713G=CA1620014754SYNGAP1,SYNGAP1-AS1c.2903G= (p.Gly968=)
c.3161G= (p.Gly1054=)
c.3119G= (p.Gly1040=)
c.2984G= (p.Gly995=)
c.3116G= (p.Gly1039=)
n.329+2893C=
6g.33443713G>TCA363631704SYNGAP1,SYNGAP1-AS1c.2903G>T (p.Gly968Val)
c.3161G>T (p.Gly1054Val)
c.3119G>T (p.Gly1040Val)
c.2984G>T (p.Gly995Val)
c.3116G>T (p.Gly1039Val)
n.329+2893C>A
6g.33443714delCA2678276751SYNGAP1,SYNGAP1-AS1c.2904del (p.Gly970AlafsTer21)
c.3162del (p.Gly1056AlafsTer21)
c.3120del (p.Gly1042AlafsTer21)
c.2985del (p.Gly997AlafsTer21)
c.3117del (p.Gly1041AlafsTer21)
n.329+2892del
 gnomAD v4
6g.33443714T>ACA450104292SYNGAP1,SYNGAP1-AS1c.2904T>A (p.Gly968=)
c.3162T>A (p.Gly1054=)
c.3120T>A (p.Gly1040=)
c.2985T>A (p.Gly995=)
c.3117T>A (p.Gly1039=)
n.329+2892A>T
6g.33443714T>CCA450104293SYNGAP1,SYNGAP1-AS1c.2904T>C (p.Gly968=)
c.3162T>C (p.Gly1054=)
c.3120T>C (p.Gly1040=)
c.2985T>C (p.Gly995=)
c.3117T>C (p.Gly1039=)
n.329+2892A>G
6g.33443714T>GCA450104294SYNGAP1,SYNGAP1-AS1c.2904T>G (p.Gly968=)
c.3162T>G (p.Gly1054=)
c.3120T>G (p.Gly1040=)
c.2985T>G (p.Gly995=)
c.3117T>G (p.Gly1039=)
n.329+2892A>C
 dbSNP gnomAD v4
6g.33443714T=CA1620014755SYNGAP1,SYNGAP1-AS1c.2904T= (p.Gly968=)
c.3162T= (p.Gly1054=)
c.3120T= (p.Gly1040=)
c.2985T= (p.Gly995=)
c.3117T= (p.Gly1039=)
n.329+2892A=
6g.33443715G>ACA363631710SYNGAP1,SYNGAP1-AS1c.2905G>A (p.Gly969Arg)
c.3163G>A (p.Gly1055Arg)
c.3121G>A (p.Gly1041Arg)
c.2986G>A (p.Gly996Arg)
c.3118G>A (p.Gly1040Arg)
n.329+2891C>T
6g.33443715G>CCA363631709SYNGAP1,SYNGAP1-AS1c.2905G>C (p.Gly969Arg)
c.3163G>C (p.Gly1055Arg)
c.3121G>C (p.Gly1041Arg)
c.2986G>C (p.Gly996Arg)
c.3118G>C (p.Gly1040Arg)
n.329+2891C>G
 dbSNP
6g.33443715G>TCA363631707SYNGAP1,SYNGAP1-AS1c.2905G>T (p.Gly969Trp)
c.3163G>T (p.Gly1055Trp)
c.3121G>T (p.Gly1041Trp)
c.2986G>T (p.Gly996Trp)
c.3118G>T (p.Gly1040Trp)
n.329+2891C>A
6g.33443719_33443740dupCA915944221SYNGAP1,SYNGAP1-AS1c.2909_2930dup (p.Pro979ArgfsTer?)
c.3167_3188dup (p.Pro1065ArgfsTer?)
c.3125_3146dup (p.Pro1051ArgfsTer?)
c.2990_3011dup (p.Pro1006ArgfsTer?)
c.3122_3143dup (p.Pro1050ArgfsTer?)
n.329+2870_329+2891dup
 ClinVar dbSNP
6g.33443716G>ACA363631714SYNGAP1,SYNGAP1-AS1c.2906G>A (p.Gly969Glu)
c.3164G>A (p.Gly1055Glu)
c.3122G>A (p.Gly1041Glu)
c.2987G>A (p.Gly996Glu)
c.3119G>A (p.Gly1040Glu)
n.329+2890C>T
 gnomAD v4
6g.33443716G>CCA363631726SYNGAP1,SYNGAP1-AS1c.2906G>C (p.Gly969Ala)
c.3164G>C (p.Gly1055Ala)
c.3122G>C (p.Gly1041Ala)
c.2987G>C (p.Gly996Ala)
c.3119G>C (p.Gly1040Ala)
n.329+2890C>G
6g.33443716G>TCA363631734SYNGAP1,SYNGAP1-AS1c.2906G>T (p.Gly969Val)
c.3164G>T (p.Gly1055Val)
c.3122G>T (p.Gly1041Val)
c.2987G>T (p.Gly996Val)
c.3119G>T (p.Gly1040Val)
n.329+2890C>A
6g.33443717G>ACA450104295SYNGAP1,SYNGAP1-AS1c.2907G>A (p.Gly969=)
c.3165G>A (p.Gly1055=)
c.3123G>A (p.Gly1041=)
c.2988G>A (p.Gly996=)
c.3120G>A (p.Gly1040=)
n.329+2889C>T
6g.33443717G>CCA450104296SYNGAP1,SYNGAP1-AS1c.2907G>C (p.Gly969=)
c.3165G>C (p.Gly1055=)
c.3123G>C (p.Gly1041=)
c.2988G>C (p.Gly996=)
c.3120G>C (p.Gly1040=)
n.329+2889C>G
 dbSNP
6g.33443717G>TCA450104297SYNGAP1,SYNGAP1-AS1c.2907G>T (p.Gly969=)
c.3165G>T (p.Gly1055=)
c.3123G>T (p.Gly1041=)
c.2988G>T (p.Gly996=)
c.3120G>T (p.Gly1040=)
n.329+2889C>A
6g.33443718G>ACA363631737SYNGAP1,SYNGAP1-AS1c.2908G>A (p.Gly970Ser)
c.3166G>A (p.Gly1056Ser)
c.3124G>A (p.Gly1042Ser)
c.2989G>A (p.Gly997Ser)
c.3121G>A (p.Gly1041Ser)
n.329+2888C>T
6g.33443718G>CCA363631739SYNGAP1,SYNGAP1-AS1c.2908G>C (p.Gly970Arg)
c.3166G>C (p.Gly1056Arg)
c.3124G>C (p.Gly1042Arg)
c.2989G>C (p.Gly997Arg)
c.3121G>C (p.Gly1041Arg)
n.329+2888C>G
6g.33443718G>TCA363631743SYNGAP1,SYNGAP1-AS1c.2908G>T (p.Gly970Cys)
c.3166G>T (p.Gly1056Cys)
c.3124G>T (p.Gly1042Cys)
c.2989G>T (p.Gly997Cys)
c.3121G>T (p.Gly1041Cys)
n.329+2888C>A
6g.33443720_33443725dupCA2678276756SYNGAP1,SYNGAP1-AS1c.2910_2915dup (p.Gly972_Gly973insSerGly)
c.3168_3173dup (p.Gly1058_Gly1059insSerGly)
c.3126_3131dup (p.Gly1044_Gly1045insSerGly)
c.2991_2996dup (p.Gly999_Gly1000insSerGly)
c.3123_3128dup (p.Gly1043_Gly1044insSerGly)
n.329+2883_329+2888dup
 gnomAD v4
6g.33443719G>ACA363631746SYNGAP1,SYNGAP1-AS1c.2909G>A (p.Gly970Asp)
c.3167G>A (p.Gly1056Asp)
c.3125G>A (p.Gly1042Asp)
c.2990G>A (p.Gly997Asp)
c.3122G>A (p.Gly1041Asp)
n.329+2887C>T
6g.33443719G>CCA363631752SYNGAP1,SYNGAP1-AS1c.2909G>C (p.Gly970Ala)
c.3167G>C (p.Gly1056Ala)
c.3125G>C (p.Gly1042Ala)
c.2990G>C (p.Gly997Ala)
c.3122G>C (p.Gly1041Ala)
n.329+2887C>G
 dbSNP
6g.33443719G>TCA363631750SYNGAP1,SYNGAP1-AS1c.2909G>T (p.Gly970Val)
c.3167G>T (p.Gly1056Val)
c.3125G>T (p.Gly1042Val)
c.2990G>T (p.Gly997Val)
c.3122G>T (p.Gly1041Val)
n.329+2887C>A
6g.33443720C>ACA450104298SYNGAP1,SYNGAP1-AS1c.2910C>A (p.Gly970=)
c.3168C>A (p.Gly1056=)
c.3126C>A (p.Gly1042=)
c.2991C>A (p.Gly997=)
c.3123C>A (p.Gly1041=)
n.329+2886G>T
 ClinVar gnomAD v4
6g.33443720C=CA1620014756SYNGAP1,SYNGAP1-AS1c.2910C= (p.Gly970=)
c.3168C= (p.Gly1056=)
c.3126C= (p.Gly1042=)
c.2991C= (p.Gly997=)
c.3123C= (p.Gly1041=)
n.329+2886G=
6g.33443720C>GCA450104299SYNGAP1,SYNGAP1-AS1c.2910C>G (p.Gly970=)
c.3168C>G (p.Gly1056=)
c.3126C>G (p.Gly1042=)
c.2991C>G (p.Gly997=)
c.3123C>G (p.Gly1041=)
n.329+2886G>C
6g.33443720C>TCA137073418SYNGAP1,SYNGAP1-AS1c.2910C>T (p.Gly970=)
c.3168C>T (p.Gly1056=)
c.3126C>T (p.Gly1042=)
c.2991C>T (p.Gly997=)
c.3123C>T (p.Gly1041=)
n.329+2886G>A
 dbSNP
6g.33443721A=CA1620014757SYNGAP1,SYNGAP1-AS1c.2911A= (p.Ser971=)
c.3169A= (p.Ser1057=)
c.3127A= (p.Ser1043=)
c.2992A= (p.Ser998=)
c.3124A= (p.Ser1042=)
n.329+2885T=
6g.33443721A>CCA363631761SYNGAP1,SYNGAP1-AS1c.2911A>C (p.Ser971Arg)
c.3169A>C (p.Ser1057Arg)
c.3127A>C (p.Ser1043Arg)
c.2992A>C (p.Ser998Arg)
c.3124A>C (p.Ser1042Arg)
n.329+2885T>G
 gnomAD v4
6g.33443721A>GCA137073424SYNGAP1,SYNGAP1-AS1c.2911A>G (p.Ser971Gly)
c.3169A>G (p.Ser1057Gly)
c.3127A>G (p.Ser1043Gly)
c.2992A>G (p.Ser998Gly)
c.3124A>G (p.Ser1042Gly)
n.329+2885T>C
 dbSNP gnomAD v4
6g.33443721A>TCA363631764SYNGAP1,SYNGAP1-AS1c.2911A>T (p.Ser971Cys)
c.3169A>T (p.Ser1057Cys)
c.3127A>T (p.Ser1043Cys)
c.2992A>T (p.Ser998Cys)
c.3124A>T (p.Ser1042Cys)
n.329+2885T>A
 dbSNP gnomAD v3 gnomAD v4
6g.33443721_33443732dupCA2547328151SYNGAP1,SYNGAP1-AS1c.2911_2922dup (p.Gly974_Gly975insSerGlyGlyGly)
c.3169_3180dup (p.Gly1060_Gly1061insSerGlyGlyGly)
c.3127_3138dup (p.Gly1046_Gly1047insSerGlyGlyGly)
c.2992_3003dup (p.Gly1001_Gly1002insSerGlyGlyGly)
c.3124_3135dup (p.Gly1045_Gly1046insSerGlyGlyGly)
n.329+2874_329+2885dup
6g.33443722G>ACA363631765SYNGAP1,SYNGAP1-AS1c.2912G>A (p.Ser971Asn)
c.3170G>A (p.Ser1057Asn)
c.3128G>A (p.Ser1043Asn)
c.2993G>A (p.Ser998Asn)
c.3125G>A (p.Ser1042Asn)
n.329+2884C>T
6g.33443722G>CCA363631766SYNGAP1,SYNGAP1-AS1c.2912G>C (p.Ser971Thr)
c.3170G>C (p.Ser1057Thr)
c.3128G>C (p.Ser1043Thr)
c.2993G>C (p.Ser998Thr)
c.3125G>C (p.Ser1042Thr)
n.329+2884C>G
 dbSNP
6g.33443722G>TCA363631769SYNGAP1,SYNGAP1-AS1c.2912G>T (p.Ser971Ile)
c.3170G>T (p.Ser1057Ile)
c.3128G>T (p.Ser1043Ile)
c.2993G>T (p.Ser998Ile)
c.3125G>T (p.Ser1042Ile)
n.329+2884C>A
6g.33443726_33443737delCA2678276761SYNGAP1,SYNGAP1-AS1c.2916_2927del (p.Gly973_Gly976del)
c.3174_3185del (p.Gly1059_Gly1062del)
c.3132_3143del (p.Gly1045_Gly1048del)
c.2997_3008del (p.Gly1000_Gly1003del)
c.3129_3140del (p.Gly1044_Gly1047del)
n.329+2873_329+2884del
 gnomAD v4
6g.33443723C>ACA363631771SYNGAP1,SYNGAP1-AS1c.2913C>A (p.Ser971Arg)
c.3171C>A (p.Ser1057Arg)
c.3129C>A (p.Ser1043Arg)
c.2994C>A (p.Ser998Arg)
c.3126C>A (p.Ser1042Arg)
n.329+2883G>T
6g.33443723C=CA1620014758SYNGAP1,SYNGAP1-AS1c.2913C= (p.Ser971=)
c.3171C= (p.Ser1057=)
c.3129C= (p.Ser1043=)
c.2994C= (p.Ser998=)
c.3126C= (p.Ser1042=)
n.329+2883G=
6g.33443723C>GCA363631774SYNGAP1,SYNGAP1-AS1c.2913C>G (p.Ser971Arg)
c.3171C>G (p.Ser1057Arg)
c.3129C>G (p.Ser1043Arg)
c.2994C>G (p.Ser998Arg)
c.3126C>G (p.Ser1042Arg)
n.329+2883G>C
 dbSNP gnomAD v3 gnomAD v4
6g.33443723C>TCA3758991SYNGAP1,SYNGAP1-AS1c.2913C>T (p.Ser971=)
c.3171C>T (p.Ser1057=)
c.3129C>T (p.Ser1043=)
c.2994C>T (p.Ser998=)
c.3126C>T (p.Ser1042=)
n.329+2883G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.33443724G>ACA3758992SYNGAP1,SYNGAP1-AS1c.2914G>A (p.Gly972Ser)
c.3172G>A (p.Gly1058Ser)
c.3130G>A (p.Gly1044Ser)
c.2995G>A (p.Gly999Ser)
c.3127G>A (p.Gly1043Ser)
n.329+2882C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.33443724G>CCA363631782SYNGAP1,SYNGAP1-AS1c.2914G>C (p.Gly972Arg)
c.3172G>C (p.Gly1058Arg)
c.3130G>C (p.Gly1044Arg)
c.2995G>C (p.Gly999Arg)
c.3127G>C (p.Gly1043Arg)
n.329+2882C>G
6g.33443724G=CA1620014759SYNGAP1,SYNGAP1-AS1c.2914G= (p.Gly972=)
c.3172G= (p.Gly1058=)
c.3130G= (p.Gly1044=)
c.2995G= (p.Gly999=)
c.3127G= (p.Gly1043=)
n.329+2882C=
6g.33443724G>TCA363631780SYNGAP1,SYNGAP1-AS1c.2914G>T (p.Gly972Cys)
c.3172G>T (p.Gly1058Cys)
c.3130G>T (p.Gly1044Cys)
c.2995G>T (p.Gly999Cys)
c.3127G>T (p.Gly1043Cys)
n.329+2882C>A
 gnomAD v4
6g.33443725_33443726insGGGGGGGGGGGGGGCA2678276764SYNGAP1,SYNGAP1-AS1c.2915_2916insGGGGGGGGGGGGGG (p.Gly977ValfsTer19)
c.3173_3174insGGGGGGGGGGGGGG (p.Gly1063ValfsTer19)
c.3131_3132insGGGGGGGGGGGGGG (p.Gly1049ValfsTer19)
c.2996_2997insGGGGGGGGGGGGGG (p.Gly1004ValfsTer19)
c.3128_3129insGGGGGGGGGGGGGG (p.Gly1048ValfsTer19)
n.329+2882_329+2883insCCCCCCCCCCCCCC
 gnomAD v4
6g.33443725G>ACA363631785SYNGAP1,SYNGAP1-AS1c.2915G>A (p.Gly972Asp)
c.3173G>A (p.Gly1058Asp)
c.3131G>A (p.Gly1044Asp)
c.2996G>A (p.Gly999Asp)
c.3128G>A (p.Gly1043Asp)
n.329+2881C>T
 gnomAD v4
6g.33443725G>CCA363631787SYNGAP1,SYNGAP1-AS1c.2915G>C (p.Gly972Ala)
c.3173G>C (p.Gly1058Ala)
c.3131G>C (p.Gly1044Ala)
c.2996G>C (p.Gly999Ala)
c.3128G>C (p.Gly1043Ala)
n.329+2881C>G
6g.33443725G>TCA363631790SYNGAP1,SYNGAP1-AS1c.2915G>T (p.Gly972Val)
c.3173G>T (p.Gly1058Val)
c.3131G>T (p.Gly1044Val)
c.2996G>T (p.Gly999Val)
c.3128G>T (p.Gly1043Val)
n.329+2881C>A
 gnomAD v4
6g.33443726T>ACA450104300SYNGAP1,SYNGAP1-AS1c.2916T>A (p.Gly972=)
c.3174T>A (p.Gly1058=)
c.3132T>A (p.Gly1044=)
c.2997T>A (p.Gly999=)
c.3129T>A (p.Gly1043=)
n.329+2880A>T
6g.33443726T>CCA450104301SYNGAP1,SYNGAP1-AS1c.2916T>C (p.Gly972=)
c.3174T>C (p.Gly1058=)
c.3132T>C (p.Gly1044=)
c.2997T>C (p.Gly999=)
c.3129T>C (p.Gly1043=)
n.329+2880A>G
6g.33443726T>GCA450104302SYNGAP1,SYNGAP1-AS1c.2916T>G (p.Gly972=)
c.3174T>G (p.Gly1058=)
c.3132T>G (p.Gly1044=)
c.2997T>G (p.Gly999=)
c.3129T>G (p.Gly1043=)
n.329+2880A>C
 ClinVar dbSNP gnomAD v3 gnomAD v4
6g.33443726T=CA1620014760SYNGAP1,SYNGAP1-AS1c.2916T= (p.Gly972=)
c.3174T= (p.Gly1058=)
c.3132T= (p.Gly1044=)
c.2997T= (p.Gly999=)
c.3129T= (p.Gly1043=)
n.329+2880A=
6g.33443726_33443727delinsTGCA1620014761SYNGAP1,SYNGAP1-AS1c.2916_2917delinsTG (p.Gly972=)
c.3174_3175delinsTG (p.Gly1058=)
c.3132_3133delinsTG (p.Gly1044=)
c.2997_2998delinsTG (p.Gly999=)
c.3129_3130delinsTG (p.Gly1043=)
n.329+2879_329+2880delinsCA
6g.33443727G>ACA3758993SYNGAP1,SYNGAP1-AS1c.2917G>A (p.Gly973Arg)
c.3175G>A (p.Gly1059Arg)
c.3133G>A (p.Gly1045Arg)
c.2998G>A (p.Gly1000Arg)
c.3130G>A (p.Gly1044Arg)
n.329+2879C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.33443727G>CCA363631806SYNGAP1,SYNGAP1-AS1c.2917G>C (p.Gly973Arg)
c.3175G>C (p.Gly1059Arg)
c.3133G>C (p.Gly1045Arg)
c.2998G>C (p.Gly1000Arg)
c.3130G>C (p.Gly1044Arg)
n.329+2879C>G
6g.33443727G=CA1620014762SYNGAP1,SYNGAP1-AS1c.2917G= (p.Gly973=)
c.3175G= (p.Gly1059=)
c.3133G= (p.Gly1045=)
c.2998G= (p.Gly1000=)
c.3130G= (p.Gly1044=)
n.329+2879C=
6g.33443727G>TCA363631810SYNGAP1,SYNGAP1-AS1c.2917G>T (p.Gly973Trp)
c.3175G>T (p.Gly1059Trp)
c.3133G>T (p.Gly1045Trp)
c.2998G>T (p.Gly1000Trp)
c.3130G>T (p.Gly1044Trp)
n.329+2879C>A
6g.33443731dupCA1139659348SYNGAP1,SYNGAP1-AS1c.2921dup (p.Gly975TrpfsTer?)
c.3179dup (p.Gly1061TrpfsTer?)
c.3137dup (p.Gly1047TrpfsTer?)
c.3002dup (p.Gly1002TrpfsTer?)
c.3134dup (p.Gly1046TrpfsTer?)
n.329+2879dup
 ClinVar
6g.33443731delCA915944222SYNGAP1,SYNGAP1-AS1c.2921del (p.Gly974ValfsTer17)
c.3179del (p.Gly1060ValfsTer17)
c.3137del (p.Gly1046ValfsTer17)
c.3002del (p.Gly1001ValfsTer17)
c.3134del (p.Gly1045ValfsTer17)
n.329+2879del
 ClinVar dbSNP
6g.33443728G>ACA363631818SYNGAP1,SYNGAP1-AS1c.2918G>A (p.Gly973Glu)
c.3176G>A (p.Gly1059Glu)
c.3134G>A (p.Gly1045Glu)
c.2999G>A (p.Gly1000Glu)
c.3131G>A (p.Gly1044Glu)
n.329+2878C>T
 gnomAD v4
6g.33443728G>CCA3758994SYNGAP1,SYNGAP1-AS1c.2918G>C (p.Gly973Ala)
c.3176G>C (p.Gly1059Ala)
c.3134G>C (p.Gly1045Ala)
c.2999G>C (p.Gly1000Ala)
c.3131G>C (p.Gly1044Ala)
n.329+2878C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.33443728G=CA1620014763SYNGAP1,SYNGAP1-AS1c.2918G= (p.Gly973=)
c.3176G= (p.Gly1059=)
c.3134G= (p.Gly1045=)
c.2999G= (p.Gly1000=)
c.3131G= (p.Gly1044=)
n.329+2878C=
6g.33443728G>TCA363631821SYNGAP1,SYNGAP1-AS1c.2918G>T (p.Gly973Val)
c.3176G>T (p.Gly1059Val)
c.3134G>T (p.Gly1045Val)
c.2999G>T (p.Gly1000Val)
c.3131G>T (p.Gly1044Val)
n.329+2878C>A
6g.33443729G>ACA450104303SYNGAP1,SYNGAP1-AS1c.2919G>A (p.Gly973=)
c.3177G>A (p.Gly1059=)
c.3135G>A (p.Gly1045=)
c.3000G>A (p.Gly1000=)
c.3132G>A (p.Gly1044=)
n.329+2877C>T
 gnomAD v4
6g.33443729G>CCA450104304SYNGAP1,SYNGAP1-AS1c.2919G>C (p.Gly973=)
c.3177G>C (p.Gly1059=)
c.3135G>C (p.Gly1045=)
c.3000G>C (p.Gly1000=)
c.3132G>C (p.Gly1044=)
n.329+2877C>G
6g.33443729G>TCA450104305SYNGAP1,SYNGAP1-AS1c.2919G>T (p.Gly973=)
c.3177G>T (p.Gly1059=)
c.3135G>T (p.Gly1045=)
c.3000G>T (p.Gly1000=)
c.3132G>T (p.Gly1044=)
n.329+2877C>A
6g.33443730G>ACA3758995SYNGAP1,SYNGAP1-AS1c.2920G>A (p.Gly974Ser)
c.3178G>A (p.Gly1060Ser)
c.3136G>A (p.Gly1046Ser)
c.3001G>A (p.Gly1001Ser)
c.3133G>A (p.Gly1045Ser)
n.329+2876C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6g.33443730G>CCA363631843SYNGAP1,SYNGAP1-AS1c.2920G>C (p.Gly974Arg)
c.3178G>C (p.Gly1060Arg)
c.3136G>C (p.Gly1046Arg)
c.3001G>C (p.Gly1001Arg)
c.3133G>C (p.Gly1045Arg)
n.329+2876C>G
6g.33443730G=CA1620014764SYNGAP1,SYNGAP1-AS1c.2920G= (p.Gly974=)
c.3178G= (p.Gly1060=)
c.3136G= (p.Gly1046=)
c.3001G= (p.Gly1001=)
c.3133G= (p.Gly1045=)
n.329+2876C=
6g.33443730G>TCA363631848SYNGAP1,SYNGAP1-AS1c.2920G>T (p.Gly974Cys)
c.3178G>T (p.Gly1060Cys)
c.3136G>T (p.Gly1046Cys)
c.3001G>T (p.Gly1001Cys)
c.3133G>T (p.Gly1045Cys)
n.329+2876C>A
6g.33443731G>ACA363631868SYNGAP1,SYNGAP1-AS1c.2921G>A (p.Gly974Asp)
c.3179G>A (p.Gly1060Asp)
c.3137G>A (p.Gly1046Asp)
c.3002G>A (p.Gly1001Asp)
c.3134G>A (p.Gly1045Asp)
n.329+2875C>T
6g.33443731G>CCA363631872SYNGAP1,SYNGAP1-AS1c.2921G>C (p.Gly974Ala)
c.3179G>C (p.Gly1060Ala)
c.3137G>C (p.Gly1046Ala)
c.3002G>C (p.Gly1001Ala)
c.3134G>C (p.Gly1045Ala)
n.329+2875C>G
6g.33443731G=CA1620014765SYNGAP1,SYNGAP1-AS1c.2921G= (p.Gly974=)
c.3179G= (p.Gly1060=)
c.3137G= (p.Gly1046=)
c.3002G= (p.Gly1001=)
c.3134G= (p.Gly1045=)
n.329+2875C=
6g.33443731G>TCA363631858SYNGAP1,SYNGAP1-AS1c.2921G>T (p.Gly974Val)
c.3179G>T (p.Gly1060Val)
c.3137G>T (p.Gly1046Val)
c.3002G>T (p.Gly1001Val)
c.3134G>T (p.Gly1045Val)
n.329+2875C>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.33443732T>ACA450104306SYNGAP1,SYNGAP1-AS1c.2922T>A (p.Gly974=)
c.3180T>A (p.Gly1060=)
c.3138T>A (p.Gly1046=)
c.3003T>A (p.Gly1001=)
c.3135T>A (p.Gly1045=)
n.329+2874A>T
6g.33443732T>CCA450104308SYNGAP1,SYNGAP1-AS1c.2922T>C (p.Gly974=)
c.3180T>C (p.Gly1060=)
c.3138T>C (p.Gly1046=)
c.3003T>C (p.Gly1001=)
c.3135T>C (p.Gly1045=)
n.329+2874A>G
6g.33443732T>GCA450104307SYNGAP1,SYNGAP1-AS1c.2922T>G (p.Gly974=)
c.3180T>G (p.Gly1060=)
c.3138T>G (p.Gly1046=)
c.3003T>G (p.Gly1001=)
c.3135T>G (p.Gly1045=)
n.329+2874A>C
 ClinVar dbSNP gnomAD v3 gnomAD v4
6g.33443733G>ACA363631878SYNGAP1,SYNGAP1-AS1c.2923G>A (p.Gly975Ser)
c.3181G>A (p.Gly1061Ser)
c.3139G>A (p.Gly1047Ser)
c.3004G>A (p.Gly1002Ser)
c.3136G>A (p.Gly1046Ser)
n.329+2873C>T
6g.33443733G>CCA363631881SYNGAP1,SYNGAP1-AS1c.2923G>C (p.Gly975Arg)
c.3181G>C (p.Gly1061Arg)
c.3139G>C (p.Gly1047Arg)
c.3004G>C (p.Gly1002Arg)
c.3136G>C (p.Gly1046Arg)
n.329+2873C>G
6g.33443733G=CA1620014766SYNGAP1,SYNGAP1-AS1c.2923G= (p.Gly975=)
c.3181G= (p.Gly1061=)
c.3139G= (p.Gly1047=)
c.3004G= (p.Gly1002=)
c.3136G= (p.Gly1046=)
n.329+2873C=
6g.33443733G>TCA3758996SYNGAP1,SYNGAP1-AS1c.2923G>T (p.Gly975Cys)
c.3181G>T (p.Gly1061Cys)
c.3139G>T (p.Gly1047Cys)
c.3004G>T (p.Gly1002Cys)
c.3136G>T (p.Gly1046Cys)
n.329+2873C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.33443734G>ACA363631886SYNGAP1,SYNGAP1-AS1c.2924G>A (p.Gly975Asp)
c.3182G>A (p.Gly1061Asp)
c.3140G>A (p.Gly1047Asp)
c.3005G>A (p.Gly1002Asp)
c.3137G>A (p.Gly1046Asp)
n.329+2872C>T
6g.33443734G>CCA363631890SYNGAP1,SYNGAP1-AS1c.2924G>C (p.Gly975Ala)
c.3182G>C (p.Gly1061Ala)
c.3140G>C (p.Gly1047Ala)
c.3005G>C (p.Gly1002Ala)
c.3137G>C (p.Gly1046Ala)
n.329+2872C>G
6g.33443734G>TCA363631893SYNGAP1,SYNGAP1-AS1c.2924G>T (p.Gly975Val)
c.3182G>T (p.Gly1061Val)
c.3140G>T (p.Gly1047Val)
c.3005G>T (p.Gly1002Val)
c.3137G>T (p.Gly1046Val)
n.329+2872C>A
 dbSNP
6g.33443735C>ACA450104309SYNGAP1,SYNGAP1-AS1c.2925C>A (p.Gly975=)
c.3183C>A (p.Gly1061=)
c.3141C>A (p.Gly1047=)
c.3006C>A (p.Gly1002=)
c.3138C>A (p.Gly1046=)
n.329+2871G>T
6g.33443735C=CA1620014767SYNGAP1,SYNGAP1-AS1c.2925C= (p.Gly975=)
c.3183C= (p.Gly1061=)
c.3141C= (p.Gly1047=)
c.3006C= (p.Gly1002=)
c.3138C= (p.Gly1046=)
n.329+2871G=
6g.33443735C>GCA450104310SYNGAP1,SYNGAP1-AS1c.2925C>G (p.Gly975=)
c.3183C>G (p.Gly1061=)
c.3141C>G (p.Gly1047=)
c.3006C>G (p.Gly1002=)
c.3138C>G (p.Gly1046=)
n.329+2871G>C
 ClinVar dbSNP gnomAD v3 gnomAD v4
6g.33443735C>TCA3758997SYNGAP1,SYNGAP1-AS1c.2925C>T (p.Gly975=)
c.3183C>T (p.Gly1061=)
c.3141C>T (p.Gly1047=)
c.3006C>T (p.Gly1002=)
c.3138C>T (p.Gly1046=)
n.329+2871G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.33443736G>ACA363631913SYNGAP1,SYNGAP1-AS1c.2926G>A (p.Gly976Arg)
c.3184G>A (p.Gly1062Arg)
c.3142G>A (p.Gly1048Arg)
c.3007G>A (p.Gly1003Arg)
c.3139G>A (p.Gly1047Arg)
n.329+2870C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.33443736G>CCA363631918SYNGAP1,SYNGAP1-AS1c.2926G>C (p.Gly976Arg)
c.3184G>C (p.Gly1062Arg)
c.3142G>C (p.Gly1048Arg)
c.3007G>C (p.Gly1003Arg)
c.3139G>C (p.Gly1047Arg)
n.329+2870C>G
6g.33443736G=CA1620014768SYNGAP1,SYNGAP1-AS1c.2926G= (p.Gly976=)
c.3184G= (p.Gly1062=)
c.3142G= (p.Gly1048=)
c.3007G= (p.Gly1003=)
c.3139G= (p.Gly1047=)
n.329+2870C=
6g.33443736G>TCA363631920SYNGAP1,SYNGAP1-AS1c.2926G>T (p.Gly976Trp)
c.3184G>T (p.Gly1062Trp)
c.3142G>T (p.Gly1048Trp)
c.3007G>T (p.Gly1003Trp)
c.3139G>T (p.Gly1047Trp)
n.329+2870C>A
6g.33443740_33443741insGGGGGGGGGGGGGGGCA2678276798SYNGAP1,SYNGAP1-AS1c.2930_2931insGGGGGGGGGGGGGGG (p.Gly977_Gln978insGlyGlyGlyGlyGly)
c.3188_3189insGGGGGGGGGGGGGGG (p.Gly1063_Gln1064insGlyGlyGlyGlyGly)
c.3146_3147insGGGGGGGGGGGGGGG (p.Gly1049_Gln1050insGlyGlyGlyGlyGly)
c.3011_3012insGGGGGGGGGGGGGGG (p.Gly1004_Gln1005insGlyGlyGlyGlyGly)
c.3143_3144insGGGGGGGGGGGGGGG (p.Gly1048_Gln1049insGlyGlyGlyGlyGly)
n.329+2870_329+2871insCCCCCCCCCCCCCCC
 gnomAD v4
6g.33443740dupCA2695206224SYNGAP1,SYNGAP1-AS1c.2930dup (p.Gln978ProfsTer?)
c.3188dup (p.Gln1064ProfsTer?)
c.3146dup (p.Gln1050ProfsTer?)
c.3011dup (p.Gln1005ProfsTer?)
c.3143dup (p.Gln1049ProfsTer?)
n.329+2870dup
6g.33443738_33443740dupCA2578585565SYNGAP1,SYNGAP1-AS1c.2928_2930dup (p.Gly977_Gln978insGly)
c.3186_3188dup (p.Gly1063_Gln1064insGly)
c.3144_3146dup (p.Gly1049_Gln1050insGly)
c.3009_3011dup (p.Gly1004_Gln1005insGly)
c.3141_3143dup (p.Gly1048_Gln1049insGly)
n.329+2868_329+2870dup
6g.33443737G>ACA363631921SYNGAP1,SYNGAP1-AS1c.2927G>A (p.Gly976Glu)
c.3185G>A (p.Gly1062Glu)
c.3143G>A (p.Gly1048Glu)
c.3008G>A (p.Gly1003Glu)
c.3140G>A (p.Gly1047Glu)
n.329+2869C>T
6g.33443737G>CCA363631923SYNGAP1,SYNGAP1-AS1c.2927G>C (p.Gly976Ala)
c.3185G>C (p.Gly1062Ala)
c.3143G>C (p.Gly1048Ala)
c.3008G>C (p.Gly1003Ala)
c.3140G>C (p.Gly1047Ala)
n.329+2869C>G
6g.33443737G>TCA363631927SYNGAP1,SYNGAP1-AS1c.2927G>T (p.Gly976Val)
c.3185G>T (p.Gly1062Val)
c.3143G>T (p.Gly1048Val)
c.3008G>T (p.Gly1003Val)
c.3140G>T (p.Gly1047Val)
n.329+2869C>A
6g.33443738G>ACA450104311SYNGAP1,SYNGAP1-AS1c.2928G>A (p.Gly976=)
c.3186G>A (p.Gly1062=)
c.3144G>A (p.Gly1048=)
c.3009G>A (p.Gly1003=)
c.3141G>A (p.Gly1047=)
n.329+2868C>T
6g.33443738G>CCA450104313SYNGAP1,SYNGAP1-AS1c.2928G>C (p.Gly976=)
c.3186G>C (p.Gly1062=)
c.3144G>C (p.Gly1048=)
c.3009G>C (p.Gly1003=)
c.3141G>C (p.Gly1047=)
n.329+2868C>G
6g.33443738G>TCA450104312SYNGAP1,SYNGAP1-AS1c.2928G>T (p.Gly976=)
c.3186G>T (p.Gly1062=)
c.3144G>T (p.Gly1048=)
c.3009G>T (p.Gly1003=)
c.3141G>T (p.Gly1047=)
n.329+2868C>A
6g.33443739G>ACA3758998SYNGAP1,SYNGAP1-AS1c.2929G>A (p.Gly977Ser)
c.3187G>A (p.Gly1063Ser)
c.3145G>A (p.Gly1049Ser)
c.3010G>A (p.Gly1004Ser)
c.3142G>A (p.Gly1048Ser)
n.329+2867C>T
 dbSNP ExAC gnomAD v2
6g.33443739G>CCA363631937SYNGAP1,SYNGAP1-AS1c.2929G>C (p.Gly977Arg)
c.3187G>C (p.Gly1063Arg)
c.3145G>C (p.Gly1049Arg)
c.3010G>C (p.Gly1004Arg)
c.3142G>C (p.Gly1048Arg)
n.329+2867C>G
6g.33443739G=CA1620014769SYNGAP1,SYNGAP1-AS1c.2929G= (p.Gly977=)
c.3187G= (p.Gly1063=)
c.3145G= (p.Gly1049=)
c.3010G= (p.Gly1004=)
c.3142G= (p.Gly1048=)
n.329+2867C=
6g.33443739G>TCA363631933SYNGAP1,SYNGAP1-AS1c.2929G>T (p.Gly977Cys)
c.3187G>T (p.Gly1063Cys)
c.3145G>T (p.Gly1049Cys)
c.3010G>T (p.Gly1004Cys)
c.3142G>T (p.Gly1048Cys)
n.329+2867C>A
6g.33443740G>ACA363631944SYNGAP1,SYNGAP1-AS1c.2930G>A (p.Gly977Asp)
c.3188G>A (p.Gly1063Asp)
c.3146G>A (p.Gly1049Asp)
c.3011G>A (p.Gly1004Asp)
c.3143G>A (p.Gly1048Asp)
n.329+2866C>T
6g.33443740G>CCA363631948SYNGAP1,SYNGAP1-AS1c.2930G>C (p.Gly977Ala)
c.3188G>C (p.Gly1063Ala)
c.3146G>C (p.Gly1049Ala)
c.3011G>C (p.Gly1004Ala)
c.3143G>C (p.Gly1048Ala)
n.329+2866C>G
6g.33443740G>TCA363631946SYNGAP1,SYNGAP1-AS1c.2930G>T (p.Gly977Val)
c.3188G>T (p.Gly1063Val)
c.3146G>T (p.Gly1049Val)
c.3011G>T (p.Gly1004Val)
c.3143G>T (p.Gly1048Val)
n.329+2866C>A
6g.33443741C>ACA450104314SYNGAP1,SYNGAP1-AS1c.2931C>A (p.Gly977=)
c.3189C>A (p.Gly1063=)
c.3147C>A (p.Gly1049=)
c.3012C>A (p.Gly1004=)
c.3144C>A (p.Gly1048=)
n.329+2865G>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.33443741C=CA1620014770SYNGAP1,SYNGAP1-AS1c.2931C= (p.Gly977=)
c.3189C= (p.Gly1063=)
c.3147C= (p.Gly1049=)
c.3012C= (p.Gly1004=)
c.3144C= (p.Gly1048=)
n.329+2865G=
6g.33443741C>GCA450104315SYNGAP1,SYNGAP1-AS1c.2931C>G (p.Gly977=)
c.3189C>G (p.Gly1063=)
c.3147C>G (p.Gly1049=)
c.3012C>G (p.Gly1004=)
c.3144C>G (p.Gly1048=)
n.329+2865G>C
6g.33443741C>TCA450104316SYNGAP1,SYNGAP1-AS1c.2931C>T (p.Gly977=)
c.3189C>T (p.Gly1063=)
c.3147C>T (p.Gly1049=)
c.3012C>T (p.Gly1004=)
c.3144C>T (p.Gly1048=)
n.329+2865G>A
6g.33443742C>ACA363631952SYNGAP1,SYNGAP1-AS1c.2932C>A (p.Gln978Lys)
c.3190C>A (p.Gln1064Lys)
c.3148C>A (p.Gln1050Lys)
c.3013C>A (p.Gln1005Lys)
c.3145C>A (p.Gln1049Lys)
n.329+2864G>T
6g.33443742C=CA1620014771SYNGAP1,SYNGAP1-AS1c.2932C= (p.Gln978=)
c.3190C= (p.Gln1064=)
c.3148C= (p.Gln1050=)
c.3013C= (p.Gln1005=)
c.3145C= (p.Gln1049=)
n.329+2864G=
6g.33443742C>GCA363631954SYNGAP1,SYNGAP1-AS1c.2932C>G (p.Gln978Glu)
c.3190C>G (p.Gln1064Glu)
c.3148C>G (p.Gln1050Glu)
c.3013C>G (p.Gln1005Glu)
c.3145C>G (p.Gln1049Glu)
n.329+2864G>C
6g.33443742C>TCA363631955SYNGAP1,SYNGAP1-AS1c.2932C>T (p.Gln978Ter)
c.3190C>T (p.Gln1064Ter)
c.3148C>T (p.Gln1050Ter)
c.3013C>T (p.Gln1005Ter)
c.3145C>T (p.Gln1049Ter)
n.329+2864G>A
 ClinVar dbSNP
6g.33443743A>CCA363631957SYNGAP1,SYNGAP1-AS1c.2933A>C (p.Gln978Pro)
c.3191A>C (p.Gln1064Pro)
c.3149A>C (p.Gln1050Pro)
c.3014A>C (p.Gln1005Pro)
c.3146A>C (p.Gln1049Pro)
n.329+2863T>G
6g.33443743A>GCA363631959SYNGAP1,SYNGAP1-AS1c.2933A>G (p.Gln978Arg)
c.3191A>G (p.Gln1064Arg)
c.3149A>G (p.Gln1050Arg)
c.3014A>G (p.Gln1005Arg)
c.3146A>G (p.Gln1049Arg)
n.329+2863T>C
6g.33443743A>TCA363631962SYNGAP1,SYNGAP1-AS1c.2933A>T (p.Gln978Leu)
c.3191A>T (p.Gln1064Leu)
c.3149A>T (p.Gln1050Leu)
c.3014A>T (p.Gln1005Leu)
c.3146A>T (p.Gln1049Leu)
n.329+2863T>A
6g.33443744G>ACA450104317SYNGAP1,SYNGAP1-AS1c.2934G>A (p.Gln978=)
c.3192G>A (p.Gln1064=)
c.3150G>A (p.Gln1050=)
c.3015G>A (p.Gln1005=)
c.3147G>A (p.Gln1049=)
n.329+2862C>T
 gnomAD v4
6g.33443744G>CCA363631964SYNGAP1,SYNGAP1-AS1c.2934G>C (p.Gln978His)
c.3192G>C (p.Gln1064His)
c.3150G>C (p.Gln1050His)
c.3015G>C (p.Gln1005His)
c.3147G>C (p.Gln1049His)
n.329+2862C>G
 dbSNP
6g.33443744G>TCA363631967SYNGAP1,SYNGAP1-AS1c.2934G>T (p.Gln978His)
c.3192G>T (p.Gln1064His)
c.3150G>T (p.Gln1050His)
c.3015G>T (p.Gln1005His)
c.3147G>T (p.Gln1049His)
n.329+2862C>A
6g.33443745C>ACA363631972SYNGAP1,SYNGAP1-AS1c.2935C>A (p.Pro979Thr)
c.3193C>A (p.Pro1065Thr)
c.3151C>A (p.Pro1051Thr)
c.3016C>A (p.Pro1006Thr)
c.3148C>A (p.Pro1050Thr)
n.329+2861G>T
6g.33443745C>GCA363631975SYNGAP1,SYNGAP1-AS1c.2935C>G (p.Pro979Ala)
c.3193C>G (p.Pro1065Ala)
c.3151C>G (p.Pro1051Ala)
c.3016C>G (p.Pro1006Ala)
c.3148C>G (p.Pro1050Ala)
n.329+2861G>C
6g.33443745C>TCA363631978SYNGAP1,SYNGAP1-AS1c.2935C>T (p.Pro979Ser)
c.3193C>T (p.Pro1065Ser)
c.3151C>T (p.Pro1051Ser)
c.3016C>T (p.Pro1006Ser)
c.3148C>T (p.Pro1050Ser)
n.329+2861G>A
6g.33443746C>ACA363631986SYNGAP1,SYNGAP1-AS1c.2936C>A (p.Pro979Gln)
c.3194C>A (p.Pro1065Gln)
c.3152C>A (p.Pro1051Gln)
c.3017C>A (p.Pro1006Gln)
c.3149C>A (p.Pro1050Gln)
n.329+2860G>T
6g.33443746C=CA1620014772SYNGAP1,SYNGAP1-AS1c.2936C= (p.Pro979=)
c.3194C= (p.Pro1065=)
c.3152C= (p.Pro1051=)
c.3017C= (p.Pro1006=)
c.3149C= (p.Pro1050=)
n.329+2860G=
6g.33443746C>GCA363631984SYNGAP1,SYNGAP1-AS1c.2936C>G (p.Pro979Arg)
c.3194C>G (p.Pro1065Arg)
c.3152C>G (p.Pro1051Arg)
c.3017C>G (p.Pro1006Arg)
c.3149C>G (p.Pro1050Arg)
n.329+2860G>C
6g.33443746C>TCA137073448SYNGAP1,SYNGAP1-AS1c.2936C>T (p.Pro979Leu)
c.3194C>T (p.Pro1065Leu)
c.3152C>T (p.Pro1051Leu)
c.3017C>T (p.Pro1006Leu)
c.3149C>T (p.Pro1050Leu)
n.329+2860G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.33443747G>ACA3758999SYNGAP1,SYNGAP1-AS1c.2937G>A (p.Pro979=)
c.3195G>A (p.Pro1065=)
c.3153G>A (p.Pro1051=)
c.3018G>A (p.Pro1006=)
c.3150G>A (p.Pro1050=)
n.329+2859C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
6g.33443747G>CCA450104318SYNGAP1,SYNGAP1-AS1c.2937G>C (p.Pro979=)
c.3195G>C (p.Pro1065=)
c.3153G>C (p.Pro1051=)
c.3018G>C (p.Pro1006=)
c.3150G>C (p.Pro1050=)
n.329+2859C>G
6g.33443747G=CA1620014773SYNGAP1,SYNGAP1-AS1c.2937G= (p.Pro979=)
c.3195G= (p.Pro1065=)
c.3153G= (p.Pro1051=)
c.3018G= (p.Pro1006=)
c.3150G= (p.Pro1050=)
n.329+2859C=
6g.33443747G>TCA450104319SYNGAP1,SYNGAP1-AS1c.2937G>T (p.Pro979=)
c.3195G>T (p.Pro1065=)
c.3153G>T (p.Pro1051=)
c.3018G>T (p.Pro1006=)
c.3150G>T (p.Pro1050=)
n.329+2859C>A
6g.33443748C>ACA363631994SYNGAP1,SYNGAP1-AS1c.2938C>A (p.Pro980Thr)
c.3196C>A (p.Pro1066Thr)
c.3154C>A (p.Pro1052Thr)
c.3019C>A (p.Pro1007Thr)
c.3151C>A (p.Pro1051Thr)
n.329+2858G>T
6g.33443748C>GCA363631997SYNGAP1,SYNGAP1-AS1c.2938C>G (p.Pro980Ala)
c.3196C>G (p.Pro1066Ala)
c.3154C>G (p.Pro1052Ala)
c.3019C>G (p.Pro1007Ala)
c.3151C>G (p.Pro1051Ala)
n.329+2858G>C
6g.33443748C>TCA363632001SYNGAP1,SYNGAP1-AS1c.2938C>T (p.Pro980Ser)
c.3196C>T (p.Pro1066Ser)
c.3154C>T (p.Pro1052Ser)
c.3019C>T (p.Pro1007Ser)
c.3151C>T (p.Pro1051Ser)
n.329+2858G>A
 ClinVar dbSNP
6g.33443749C>ACA363632005SYNGAP1,SYNGAP1-AS1c.2939C>A (p.Pro980His)
c.3197C>A (p.Pro1066His)
c.3155C>A (p.Pro1052His)
c.3020C>A (p.Pro1007His)
c.3152C>A (p.Pro1051His)
n.329+2857G>T
6g.33443749C=CA1620014774SYNGAP1,SYNGAP1-AS1c.2939C= (p.Pro980=)
c.3197C= (p.Pro1066=)
c.3155C= (p.Pro1052=)
c.3020C= (p.Pro1007=)
c.3152C= (p.Pro1051=)
n.329+2857G=
6g.33443749C>GCA363632009SYNGAP1,SYNGAP1-AS1c.2939C>G (p.Pro980Arg)
c.3197C>G (p.Pro1066Arg)
c.3155C>G (p.Pro1052Arg)
c.3020C>G (p.Pro1007Arg)
c.3152C>G (p.Pro1051Arg)
n.329+2857G>C
6g.33443749C>TCA3759000SYNGAP1,SYNGAP1-AS1c.2939C>T (p.Pro980Leu)
c.3197C>T (p.Pro1066Leu)
c.3155C>T (p.Pro1052Leu)
c.3020C>T (p.Pro1007Leu)
c.3152C>T (p.Pro1051Leu)
n.329+2857G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.33443750T>ACA450104320SYNGAP1,SYNGAP1-AS1c.2940T>A (p.Pro980=)
c.3198T>A (p.Pro1066=)
c.3156T>A (p.Pro1052=)
c.3021T>A (p.Pro1007=)
c.3153T>A (p.Pro1051=)
n.329+2856A>T
6g.33443750T>CCA450104321SYNGAP1,SYNGAP1-AS1c.2940T>C (p.Pro980=)
c.3198T>C (p.Pro1066=)
c.3156T>C (p.Pro1052=)
c.3021T>C (p.Pro1007=)
c.3153T>C (p.Pro1051=)
n.329+2856A>G
6g.33443750T>GCA3759001SYNGAP1,SYNGAP1-AS1c.2940T>G (p.Pro980=)
c.3198T>G (p.Pro1066=)
c.3156T>G (p.Pro1052=)
c.3021T>G (p.Pro1007=)
c.3153T>G (p.Pro1051=)
n.329+2856A>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.33443750T=CA1620014775SYNGAP1,SYNGAP1-AS1c.2940T= (p.Pro980=)
c.3198T= (p.Pro1066=)
c.3156T= (p.Pro1052=)
c.3021T= (p.Pro1007=)
c.3153T= (p.Pro1051=)
n.329+2856A=
6g.33443750_33443751delinsTCCA1620014776SYNGAP1,SYNGAP1-AS1c.2940_2941delinsTC (p.Pro980=)
c.3198_3199delinsTC (p.Pro1066=)
c.3156_3157delinsTC (p.Pro1052=)
c.3021_3022delinsTC (p.Pro1007=)
c.3153_3154delinsTC (p.Pro1051=)
n.329+2855_329+2856delinsGA
6g.33443751C>ACA363632025SYNGAP1,SYNGAP1-AS1c.2941C>A (p.Pro981Thr)
c.3199C>A (p.Pro1067Thr)
c.3157C>A (p.Pro1053Thr)
c.3022C>A (p.Pro1008Thr)
c.3154C>A (p.Pro1052Thr)
n.329+2855G>T
6g.33443751C=CA1620014777SYNGAP1,SYNGAP1-AS1c.2941C= (p.Pro981=)
c.3199C= (p.Pro1067=)
c.3157C= (p.Pro1053=)
c.3022C= (p.Pro1008=)
c.3154C= (p.Pro1052=)
n.329+2855G=
6g.33443751C>GCA3759002SYNGAP1,SYNGAP1-AS1c.2941C>G (p.Pro981Ala)
c.3199C>G (p.Pro1067Ala)
c.3157C>G (p.Pro1053Ala)
c.3022C>G (p.Pro1008Ala)
c.3154C>G (p.Pro1052Ala)
n.329+2855G>C
 dbSNP ExAC gnomAD v2
6g.33443751C>TCA363632029SYNGAP1,SYNGAP1-AS1c.2941C>T (p.Pro981Ser)
c.3199C>T (p.Pro1067Ser)
c.3157C>T (p.Pro1053Ser)
c.3022C>T (p.Pro1008Ser)
c.3154C>T (p.Pro1052Ser)
n.329+2855G>A
 dbSNP
6g.33443752delCA16043416SYNGAP1,SYNGAP1-AS1c.2942del (p.Pro981HisfsTer10)
c.3200del (p.Pro1067HisfsTer10)
c.3158del (p.Pro1053HisfsTer10)
c.3023del (p.Pro1008HisfsTer10)
c.3155del (p.Pro1052HisfsTer10)
n.329+2855del
 ClinVar dbSNP
6g.33443752C>ACA363632041SYNGAP1,SYNGAP1-AS1c.2942C>A (p.Pro981Gln)
c.3200C>A (p.Pro1067Gln)
c.3158C>A (p.Pro1053Gln)
c.3023C>A (p.Pro1008Gln)
c.3155C>A (p.Pro1052Gln)
n.329+2854G>T
6g.33443752C>GCA363632043SYNGAP1,SYNGAP1-AS1c.2942C>G (p.Pro981Arg)
c.3200C>G (p.Pro1067Arg)
c.3158C>G (p.Pro1053Arg)
c.3023C>G (p.Pro1008Arg)
c.3155C>G (p.Pro1052Arg)
n.329+2854G>C
6g.33443752C>TCA363632038SYNGAP1,SYNGAP1-AS1c.2942C>T (p.Pro981Leu)
c.3200C>T (p.Pro1067Leu)
c.3158C>T (p.Pro1053Leu)
c.3023C>T (p.Pro1008Leu)
c.3155C>T (p.Pro1052Leu)
n.329+2854G>A
6g.33443753A>CCA450104324SYNGAP1,SYNGAP1-AS1c.2943A>C (p.Pro981=)
c.3201A>C (p.Pro1067=)
c.3159A>C (p.Pro1053=)
c.3024A>C (p.Pro1008=)
c.3156A>C (p.Pro1052=)
n.329+2853T>G
6g.33443753A>GCA450104322SYNGAP1,SYNGAP1-AS1c.2943A>G (p.Pro981=)
c.3201A>G (p.Pro1067=)
c.3159A>G (p.Pro1053=)
c.3024A>G (p.Pro1008=)
c.3156A>G (p.Pro1052=)
n.329+2853T>C
6g.33443753A>TCA450104323SYNGAP1,SYNGAP1-AS1c.2943A>T (p.Pro981=)
c.3201A>T (p.Pro1067=)
c.3159A>T (p.Pro1053=)
c.3024A>T (p.Pro1008=)
c.3156A>T (p.Pro1052=)
n.329+2853T>A
6g.33443754T>ACA363632047SYNGAP1,SYNGAP1-AS1c.2944T>A (p.Leu982Met)
c.3202T>A (p.Leu1068Met)
c.3160T>A (p.Leu1054Met)
c.3025T>A (p.Leu1009Met)
c.3157T>A (p.Leu1053Met)
n.329+2852A>T
6g.33443754T>CCA450104325SYNGAP1,SYNGAP1-AS1c.2944T>C (p.Leu982=)
c.3202T>C (p.Leu1068=)
c.3160T>C (p.Leu1054=)
c.3025T>C (p.Leu1009=)
c.3157T>C (p.Leu1053=)
n.329+2852A>G
 ClinVar dbSNP gnomAD v4
6g.33443754T>GCA363632058SYNGAP1,SYNGAP1-AS1c.2944T>G (p.Leu982Val)
c.3202T>G (p.Leu1068Val)
c.3160T>G (p.Leu1054Val)
c.3025T>G (p.Leu1009Val)
c.3157T>G (p.Leu1053Val)
n.329+2852A>C
6g.33443754T=CA1620014778SYNGAP1,SYNGAP1-AS1c.2944T= (p.Leu982=)
c.3202T= (p.Leu1068=)
c.3160T= (p.Leu1054=)
c.3025T= (p.Leu1009=)
c.3157T= (p.Leu1053=)
n.329+2852A=
6g.33443755T>ACA363632062SYNGAP1,SYNGAP1-AS1c.2945T>A (p.Leu982Ter)
c.3203T>A (p.Leu1068Ter)
c.3161T>A (p.Leu1054Ter)
c.3026T>A (p.Leu1009Ter)
c.3158T>A (p.Leu1053Ter)
n.329+2851A>T
 dbSNP
6g.33443755T>CCA363632063SYNGAP1,SYNGAP1-AS1c.2945T>C (p.Leu982Ser)
c.3203T>C (p.Leu1068Ser)
c.3161T>C (p.Leu1054Ser)
c.3026T>C (p.Leu1009Ser)
c.3158T>C (p.Leu1053Ser)
n.329+2851A>G
6g.33443755T>GCA363632064SYNGAP1,SYNGAP1-AS1c.2945T>G (p.Leu982Trp)
c.3203T>G (p.Leu1068Trp)
c.3161T>G (p.Leu1054Trp)
c.3026T>G (p.Leu1009Trp)
c.3158T>G (p.Leu1053Trp)
n.329+2851A>C
6g.33443755T=CA1620014779SYNGAP1,SYNGAP1-AS1c.2945T= (p.Leu982=)
c.3203T= (p.Leu1068=)
c.3161T= (p.Leu1054=)
c.3026T= (p.Leu1009=)
c.3158T= (p.Leu1053=)
n.329+2851A=
6g.33443756G>ACA450104326SYNGAP1,SYNGAP1-AS1c.2946G>A (p.Leu982=)
c.3204G>A (p.Leu1068=)
c.3162G>A (p.Leu1054=)
c.3027G>A (p.Leu1009=)
c.3159G>A (p.Leu1053=)
n.329+2850C>T
 dbSNP gnomAD v3 gnomAD v4
6g.33443756G>CCA363632065SYNGAP1,SYNGAP1-AS1c.2946G>C (p.Leu982Phe)
c.3204G>C (p.Leu1068Phe)
c.3162G>C (p.Leu1054Phe)
c.3027G>C (p.Leu1009Phe)
c.3159G>C (p.Leu1053Phe)
n.329+2850C>G
6g.33443756G=CA1620014780SYNGAP1,SYNGAP1-AS1c.2946G= (p.Leu982=)
c.3204G= (p.Leu1068=)
c.3162G= (p.Leu1054=)
c.3027G= (p.Leu1009=)
c.3159G= (p.Leu1053=)
n.329+2850C=
6g.33443756G>TCA363632066SYNGAP1,SYNGAP1-AS1c.2946G>T (p.Leu982Phe)
c.3204G>T (p.Leu1068Phe)
c.3162G>T (p.Leu1054Phe)
c.3027G>T (p.Leu1009Phe)
c.3159G>T (p.Leu1053Phe)
n.329+2850C>A
6g.33443757C>ACA363632072SYNGAP1,SYNGAP1-AS1c.2947C>A (p.Gln983Lys)
c.3205C>A (p.Gln1069Lys)
c.3163C>A (p.Gln1055Lys)
c.3028C>A (p.Gln1010Lys)
c.3160C>A (p.Gln1054Lys)
n.329+2849G>T
6g.33443757C=CA1620014781SYNGAP1,SYNGAP1-AS1c.2947C= (p.Gln983=)
c.3205C= (p.Gln1069=)
c.3163C= (p.Gln1055=)
c.3028C= (p.Gln1010=)
c.3160C= (p.Gln1054=)
n.329+2849G=
6g.33443757C>GCA363632073SYNGAP1,SYNGAP1-AS1c.2947C>G (p.Gln983Glu)
c.3205C>G (p.Gln1069Glu)
c.3163C>G (p.Gln1055Glu)
c.3028C>G (p.Gln1010Glu)
c.3160C>G (p.Gln1054Glu)
n.329+2849G>C
6g.33443757C>TCA363632074SYNGAP1,SYNGAP1-AS1c.2947C>T (p.Gln983Ter)
c.3205C>T (p.Gln1069Ter)
c.3163C>T (p.Gln1055Ter)
c.3028C>T (p.Gln1010Ter)
c.3160C>T (p.Gln1054Ter)
n.329+2849G>A
 dbSNP
6g.33443758A>CCA363632077SYNGAP1,SYNGAP1-AS1c.2948A>C (p.Gln983Pro)
c.3206A>C (p.Gln1069Pro)
c.3164A>C (p.Gln1055Pro)
c.3029A>C (p.Gln1010Pro)
c.3161A>C (p.Gln1054Pro)
n.329+2848T>G
6g.33443758A>GCA363632078SYNGAP1,SYNGAP1-AS1c.2948A>G (p.Gln983Arg)
c.3206A>G (p.Gln1069Arg)
c.3164A>G (p.Gln1055Arg)
c.3029A>G (p.Gln1010Arg)
c.3161A>G (p.Gln1054Arg)
n.329+2848T>C
6g.33443758A>TCA363632079SYNGAP1,SYNGAP1-AS1c.2948A>T (p.Gln983Leu)
c.3206A>T (p.Gln1069Leu)
c.3164A>T (p.Gln1055Leu)
c.3029A>T (p.Gln1010Leu)
c.3161A>T (p.Gln1054Leu)
n.329+2848T>A
6g.33443759G>ACA450104327SYNGAP1,SYNGAP1-AS1c.2949G>A (p.Gln983=)
c.3207G>A (p.Gln1069=)
c.3165G>A (p.Gln1055=)
c.3030G>A (p.Gln1010=)
c.3162G>A (p.Gln1054=)
n.329+2847C>T
6g.33443759G>CCA363632084SYNGAP1,SYNGAP1-AS1c.2949G>C (p.Gln983His)
c.3207G>C (p.Gln1069His)
c.3165G>C (p.Gln1055His)
c.3030G>C (p.Gln1010His)
c.3162G>C (p.Gln1054His)
n.329+2847C>G
6g.33443759G>TCA363632081SYNGAP1,SYNGAP1-AS1c.2949G>T (p.Gln983His)
c.3207G>T (p.Gln1069His)
c.3165G>T (p.Gln1055His)
c.3030G>T (p.Gln1010His)
c.3162G>T (p.Gln1054His)
n.329+2847C>A
6g.33443760A>CCA450104328SYNGAP1,SYNGAP1-AS1c.2950A>C (p.Arg984=)
c.3208A>C (p.Arg1070=)
c.3166A>C (p.Arg1056=)
c.3031A>C (p.Arg1011=)
c.3163A>C (p.Arg1055=)
n.329+2846T>G
6g.33443760A>GCA363632088SYNGAP1,SYNGAP1-AS1c.2950A>G (p.Arg984Gly)
c.3208A>G (p.Arg1070Gly)
c.3166A>G (p.Arg1056Gly)
c.3031A>G (p.Arg1011Gly)
c.3163A>G (p.Arg1055Gly)
n.329+2846T>C
6g.33443760A>TCA363632091SYNGAP1,SYNGAP1-AS1c.2950A>T (p.Arg984Trp)
c.3208A>T (p.Arg1070Trp)
c.3166A>T (p.Arg1056Trp)
c.3031A>T (p.Arg1011Trp)
c.3163A>T (p.Arg1055Trp)
n.329+2846T>A
6g.33443761G>ACA363632095SYNGAP1,SYNGAP1-AS1c.2951G>A (p.Arg984Lys)
c.3209G>A (p.Arg1070Lys)
c.3167G>A (p.Arg1056Lys)
c.3032G>A (p.Arg1011Lys)
c.3164G>A (p.Arg1055Lys)
n.329+2845C>T
 ClinVar dbSNP
6g.33443761G>CCA363632096SYNGAP1,SYNGAP1-AS1c.2951G>C (p.Arg984Thr)
c.3209G>C (p.Arg1070Thr)
c.3167G>C (p.Arg1056Thr)
c.3032G>C (p.Arg1011Thr)
c.3164G>C (p.Arg1055Thr)
n.329+2845C>G
6g.33443761G=CA1620014782SYNGAP1,SYNGAP1-AS1c.2951G= (p.Arg984=)
c.3209G= (p.Arg1070=)
c.3167G= (p.Arg1056=)
c.3032G= (p.Arg1011=)
c.3164G= (p.Arg1055=)
n.329+2845C=
6g.33443761G>TCA363632099SYNGAP1,SYNGAP1-AS1c.2951G>T (p.Arg984Met)
c.3209G>T (p.Arg1070Met)
c.3167G>T (p.Arg1056Met)
c.3032G>T (p.Arg1011Met)
c.3164G>T (p.Arg1055Met)
n.329+2845C>A
6g.33443761_33443762delinsCACA2697553287SYNGAP1,SYNGAP1-AS1c.2951_2952delinsCA (p.Arg984Thr)
c.3209_3210delinsCA (p.Arg1070Thr)
c.3167_3168delinsCA (p.Arg1056Thr)
c.3032_3033delinsCA (p.Arg1011Thr)
c.3164_3165delinsCA (p.Arg1055Thr)
n.329+2844_329+2845delinsTG
 ClinVar
6g.33443762G>ACA450104329SYNGAP1,SYNGAP1-AS1c.2952G>A (p.Arg984=)
c.3210G>A (p.Arg1070=)
c.3168G>A (p.Arg1056=)
c.3033G>A (p.Arg1011=)
c.3165G>A (p.Arg1055=)
n.329+2844C>T
6g.33443762G>CCA363632101SYNGAP1,SYNGAP1-AS1c.2952G>C (p.Arg984Ser)
c.3210G>C (p.Arg1070Ser)
c.3168G>C (p.Arg1056Ser)
c.3033G>C (p.Arg1011Ser)
c.3165G>C (p.Arg1055Ser)
n.329+2844C>G
6g.33443762G>TCA363632104SYNGAP1,SYNGAP1-AS1c.2952G>T (p.Arg984Ser)
c.3210G>T (p.Arg1070Ser)
c.3168G>T (p.Arg1056Ser)
c.3033G>T (p.Arg1011Ser)
c.3165G>T (p.Arg1055Ser)
n.329+2844C>A
6g.33443763G>ACA363632107SYNGAP1,SYNGAP1-AS1c.2953G>A (p.Gly985Ser)
c.3211G>A (p.Gly1071Ser)
c.3169G>A (p.Gly1057Ser)
c.3034G>A (p.Gly1012Ser)
c.3166G>A (p.Gly1056Ser)
n.329+2843C>T
6g.33443763G>CCA363632110SYNGAP1,SYNGAP1-AS1c.2953G>C (p.Gly985Arg)
c.3211G>C (p.Gly1071Arg)
c.3169G>C (p.Gly1057Arg)
c.3034G>C (p.Gly1012Arg)
c.3166G>C (p.Gly1056Arg)
n.329+2843C>G
6g.33443763G>TCA363632114SYNGAP1,SYNGAP1-AS1c.2953G>T (p.Gly985Cys)
c.3211G>T (p.Gly1071Cys)
c.3169G>T (p.Gly1057Cys)
c.3034G>T (p.Gly1012Cys)
c.3166G>T (p.Gly1056Cys)
n.329+2843C>A
6g.33443764G>ACA363632123SYNGAP1,SYNGAP1-AS1c.2954G>A (p.Gly985Asp)
c.3212G>A (p.Gly1071Asp)
c.3170G>A (p.Gly1057Asp)
c.3035G>A (p.Gly1012Asp)
c.3167G>A (p.Gly1056Asp)
n.329+2842C>T
6g.33443764G>CCA363632125SYNGAP1,SYNGAP1-AS1c.2954G>C (p.Gly985Ala)
c.3212G>C (p.Gly1071Ala)
c.3170G>C (p.Gly1057Ala)
c.3035G>C (p.Gly1012Ala)
c.3167G>C (p.Gly1056Ala)
n.329+2842C>G
6g.33443764G>TCA363632128SYNGAP1,SYNGAP1-AS1c.2954G>T (p.Gly985Val)
c.3212G>T (p.Gly1071Val)
c.3170G>T (p.Gly1057Val)
c.3035G>T (p.Gly1012Val)
c.3167G>T (p.Gly1056Val)
n.329+2842C>A
 gnomAD v4
6g.33443767_33443776delCA2695206225SYNGAP1,SYNGAP1-AS1c.2957_2966del (p.Lys986SerfsTer2)
c.3215_3224del (p.Lys1072SerfsTer2)
c.3173_3182del (p.Lys1058SerfsTer2)
c.3038_3047del (p.Lys1013SerfsTer2)
c.3170_3179del (p.Lys1057SerfsTer2)
n.329+2833_329+2842del

Number of alleles fetched