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.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
6g.33443536C>ACA363630174SYNGAP1,SYNGAP1-AS1c.2726C>A (p.Pro909His)
c.2984C>A (p.Pro995His)
c.2942C>A (p.Pro981His)
c.2807C>A (p.Pro936His)
c.2939C>A (p.Pro980His)
n.329+3070G>T
6g.33443536C>GCA363630183SYNGAP1,SYNGAP1-AS1c.2726C>G (p.Pro909Arg)
c.2984C>G (p.Pro995Arg)
c.2942C>G (p.Pro981Arg)
c.2807C>G (p.Pro936Arg)
c.2939C>G (p.Pro980Arg)
n.329+3070G>C
6g.33443536C>TCA363630178SYNGAP1,SYNGAP1-AS1c.2726C>T (p.Pro909Leu)
c.2984C>T (p.Pro995Leu)
c.2942C>T (p.Pro981Leu)
c.2807C>T (p.Pro936Leu)
c.2939C>T (p.Pro980Leu)
n.329+3070G>A
6g.33443537C>ACA450104133SYNGAP1,SYNGAP1-AS1c.2727C>A (p.Pro909=)
c.2985C>A (p.Pro995=)
c.2943C>A (p.Pro981=)
c.2808C>A (p.Pro936=)
c.2940C>A (p.Pro980=)
n.329+3069G>T
6g.33443537C>GCA450104134SYNGAP1,SYNGAP1-AS1c.2727C>G (p.Pro909=)
c.2985C>G (p.Pro995=)
c.2943C>G (p.Pro981=)
c.2808C>G (p.Pro936=)
c.2940C>G (p.Pro980=)
n.329+3069G>C
 dbSNP
6g.33443537C>TCA450104135SYNGAP1,SYNGAP1-AS1c.2727C>T (p.Pro909=)
c.2985C>T (p.Pro995=)
c.2943C>T (p.Pro981=)
c.2808C>T (p.Pro936=)
c.2940C>T (p.Pro980=)
n.329+3069G>A
6g.33443538C>ACA363630187SYNGAP1,SYNGAP1-AS1c.2728C>A (p.Pro910Thr)
c.2986C>A (p.Pro996Thr)
c.2944C>A (p.Pro982Thr)
c.2809C>A (p.Pro937Thr)
c.2941C>A (p.Pro981Thr)
n.329+3068G>T
6g.33443538C=CA1620014677SYNGAP1,SYNGAP1-AS1c.2728C= (p.Pro910=)
c.2986C= (p.Pro996=)
c.2944C= (p.Pro982=)
c.2809C= (p.Pro937=)
c.2941C= (p.Pro981=)
n.329+3068G=
6g.33443538C>GCA363630191SYNGAP1,SYNGAP1-AS1c.2728C>G (p.Pro910Ala)
c.2986C>G (p.Pro996Ala)
c.2944C>G (p.Pro982Ala)
c.2809C>G (p.Pro937Ala)
c.2941C>G (p.Pro981Ala)
n.329+3068G>C
6g.33443538C>TCA363630202SYNGAP1,SYNGAP1-AS1c.2728C>T (p.Pro910Ser)
c.2986C>T (p.Pro996Ser)
c.2944C>T (p.Pro982Ser)
c.2809C>T (p.Pro937Ser)
c.2941C>T (p.Pro981Ser)
n.329+3068G>A
 dbSNP gnomAD v3 gnomAD v4
6g.33443539C>ACA363630208SYNGAP1,SYNGAP1-AS1c.2729C>A (p.Pro910His)
c.2987C>A (p.Pro996His)
c.2945C>A (p.Pro982His)
c.2810C>A (p.Pro937His)
c.2942C>A (p.Pro981His)
n.329+3067G>T
6g.33443539C>GCA363630211SYNGAP1,SYNGAP1-AS1c.2729C>G (p.Pro910Arg)
c.2987C>G (p.Pro996Arg)
c.2945C>G (p.Pro982Arg)
c.2810C>G (p.Pro937Arg)
c.2942C>G (p.Pro981Arg)
n.329+3067G>C
 ClinVar
6g.33443539C>TCA363630212SYNGAP1,SYNGAP1-AS1c.2729C>T (p.Pro910Leu)
c.2987C>T (p.Pro996Leu)
c.2945C>T (p.Pro982Leu)
c.2810C>T (p.Pro937Leu)
c.2942C>T (p.Pro981Leu)
n.329+3067G>A
6g.33443540T>ACA450104137SYNGAP1,SYNGAP1-AS1c.2730T>A (p.Pro910=)
c.2988T>A (p.Pro996=)
c.2946T>A (p.Pro982=)
c.2811T>A (p.Pro937=)
c.2943T>A (p.Pro981=)
n.329+3066A>T
6g.33443540T>CCA450104138SYNGAP1,SYNGAP1-AS1c.2730T>C (p.Pro910=)
c.2988T>C (p.Pro996=)
c.2946T>C (p.Pro982=)
c.2811T>C (p.Pro937=)
c.2943T>C (p.Pro981=)
n.329+3066A>G
6g.33443540T>GCA450104139SYNGAP1,SYNGAP1-AS1c.2730T>G (p.Pro910=)
c.2988T>G (p.Pro996=)
c.2946T>G (p.Pro982=)
c.2811T>G (p.Pro937=)
c.2943T>G (p.Pro981=)
n.329+3066A>C
6g.33443541G>ACA363630213SYNGAP1,SYNGAP1-AS1c.2731G>A (p.Ala911Thr)
c.2989G>A (p.Ala997Thr)
c.2947G>A (p.Ala983Thr)
c.2812G>A (p.Ala938Thr)
c.2944G>A (p.Ala982Thr)
n.329+3065C>T
 ClinVar
6g.33443541G>CCA363630214SYNGAP1,SYNGAP1-AS1c.2731G>C (p.Ala911Pro)
c.2989G>C (p.Ala997Pro)
c.2947G>C (p.Ala983Pro)
c.2812G>C (p.Ala938Pro)
c.2944G>C (p.Ala982Pro)
n.329+3065C>G
6g.33443541G>TCA363630215SYNGAP1,SYNGAP1-AS1c.2731G>T (p.Ala911Ser)
c.2989G>T (p.Ala997Ser)
c.2947G>T (p.Ala983Ser)
c.2812G>T (p.Ala938Ser)
c.2944G>T (p.Ala982Ser)
n.329+3065C>A
6g.33443542C>ACA363630218SYNGAP1,SYNGAP1-AS1c.2732C>A (p.Ala911Asp)
c.2990C>A (p.Ala997Asp)
c.2948C>A (p.Ala983Asp)
c.2813C>A (p.Ala938Asp)
c.2945C>A (p.Ala982Asp)
n.329+3064G>T
6g.33443542C>GCA363630221SYNGAP1,SYNGAP1-AS1c.2732C>G (p.Ala911Gly)
c.2990C>G (p.Ala997Gly)
c.2948C>G (p.Ala983Gly)
c.2813C>G (p.Ala938Gly)
c.2945C>G (p.Ala982Gly)
n.329+3064G>C
6g.33443542C>TCA363630223SYNGAP1,SYNGAP1-AS1c.2732C>T (p.Ala911Val)
c.2990C>T (p.Ala997Val)
c.2948C>T (p.Ala983Val)
c.2813C>T (p.Ala938Val)
c.2945C>T (p.Ala982Val)
n.329+3064G>A
6g.33443543T>ACA450104143SYNGAP1,SYNGAP1-AS1c.2733T>A (p.Ala911=)
c.2991T>A (p.Ala997=)
c.2949T>A (p.Ala983=)
c.2814T>A (p.Ala938=)
c.2946T>A (p.Ala982=)
n.329+3063A>T
6g.33443543T>CCA450104144SYNGAP1,SYNGAP1-AS1c.2733T>C (p.Ala911=)
c.2991T>C (p.Ala997=)
c.2949T>C (p.Ala983=)
c.2814T>C (p.Ala938=)
c.2946T>C (p.Ala982=)
n.329+3063A>G
 dbSNP
6g.33443543T>GCA450104145SYNGAP1,SYNGAP1-AS1c.2733T>G (p.Ala911=)
c.2991T>G (p.Ala997=)
c.2949T>G (p.Ala983=)
c.2814T>G (p.Ala938=)
c.2946T>G (p.Ala982=)
n.329+3063A>C
6g.33443543T=CA1620014678SYNGAP1,SYNGAP1-AS1c.2733T= (p.Ala911=)
c.2991T= (p.Ala997=)
c.2949T= (p.Ala983=)
c.2814T= (p.Ala938=)
c.2946T= (p.Ala982=)
n.329+3063A=
6g.33443544G>ACA363630231SYNGAP1,SYNGAP1-AS1c.2734G>A (p.Ala912Thr)
c.2992G>A (p.Ala998Thr)
c.2950G>A (p.Ala984Thr)
c.2815G>A (p.Ala939Thr)
c.2947G>A (p.Ala983Thr)
n.329+3062C>T
6g.33443544G>CCA363630234SYNGAP1,SYNGAP1-AS1c.2734G>C (p.Ala912Pro)
c.2992G>C (p.Ala998Pro)
c.2950G>C (p.Ala984Pro)
c.2815G>C (p.Ala939Pro)
c.2947G>C (p.Ala983Pro)
n.329+3062C>G
6g.33443544G>TCA363630225SYNGAP1,SYNGAP1-AS1c.2734G>T (p.Ala912Ser)
c.2992G>T (p.Ala998Ser)
c.2950G>T (p.Ala984Ser)
c.2815G>T (p.Ala939Ser)
c.2947G>T (p.Ala983Ser)
n.329+3062C>A
6g.33443545C>ACA363630241SYNGAP1,SYNGAP1-AS1c.2735C>A (p.Ala912Asp)
c.2993C>A (p.Ala998Asp)
c.2951C>A (p.Ala984Asp)
c.2816C>A (p.Ala939Asp)
c.2948C>A (p.Ala983Asp)
n.329+3061G>T
6g.33443545C>GCA363630237SYNGAP1,SYNGAP1-AS1c.2735C>G (p.Ala912Gly)
c.2993C>G (p.Ala998Gly)
c.2951C>G (p.Ala984Gly)
c.2816C>G (p.Ala939Gly)
c.2948C>G (p.Ala983Gly)
n.329+3061G>C
6g.33443545C>TCA363630244SYNGAP1,SYNGAP1-AS1c.2735C>T (p.Ala912Val)
c.2993C>T (p.Ala998Val)
c.2951C>T (p.Ala984Val)
c.2816C>T (p.Ala939Val)
c.2948C>T (p.Ala983Val)
n.329+3061G>A
6g.33443546C>ACA450104147SYNGAP1,SYNGAP1-AS1c.2736C>A (p.Ala912=)
c.2994C>A (p.Ala998=)
c.2952C>A (p.Ala984=)
c.2817C>A (p.Ala939=)
c.2949C>A (p.Ala983=)
n.329+3060G>T
6g.33443546C=CA1620014679SYNGAP1,SYNGAP1-AS1c.2736C= (p.Ala912=)
c.2994C= (p.Ala998=)
c.2952C= (p.Ala984=)
c.2817C= (p.Ala939=)
c.2949C= (p.Ala983=)
n.329+3060G=
6g.33443546C>GCA450104148SYNGAP1,SYNGAP1-AS1c.2736C>G (p.Ala912=)
c.2994C>G (p.Ala998=)
c.2952C>G (p.Ala984=)
c.2817C>G (p.Ala939=)
c.2949C>G (p.Ala983=)
n.329+3060G>C
6g.33443546C>TCA3758971SYNGAP1,SYNGAP1-AS1c.2736C>T (p.Ala912=)
c.2994C>T (p.Ala998=)
c.2952C>T (p.Ala984=)
c.2817C>T (p.Ala939=)
c.2949C>T (p.Ala983=)
n.329+3060G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.33443547T>ACA363630249SYNGAP1,SYNGAP1-AS1c.2737T>A (p.Ser913Thr)
c.2995T>A (p.Ser999Thr)
c.2953T>A (p.Ser985Thr)
c.2818T>A (p.Ser940Thr)
c.2950T>A (p.Ser984Thr)
n.329+3059A>T
6g.33443547T>CCA363630250SYNGAP1,SYNGAP1-AS1c.2737T>C (p.Ser913Pro)
c.2995T>C (p.Ser999Pro)
c.2953T>C (p.Ser985Pro)
c.2818T>C (p.Ser940Pro)
c.2950T>C (p.Ser984Pro)
n.329+3059A>G
6g.33443547T>GCA363630251SYNGAP1,SYNGAP1-AS1c.2737T>G (p.Ser913Ala)
c.2995T>G (p.Ser999Ala)
c.2953T>G (p.Ser985Ala)
c.2818T>G (p.Ser940Ala)
c.2950T>G (p.Ser984Ala)
n.329+3059A>C
6g.33443548C>ACA363630255SYNGAP1,SYNGAP1-AS1c.2738C>A (p.Ser913Tyr)
c.2996C>A (p.Ser999Tyr)
c.2954C>A (p.Ser985Tyr)
c.2819C>A (p.Ser940Tyr)
c.2951C>A (p.Ser984Tyr)
n.329+3058G>T
6g.33443548C>GCA363630258SYNGAP1,SYNGAP1-AS1c.2738C>G (p.Ser913Cys)
c.2996C>G (p.Ser999Cys)
c.2954C>G (p.Ser985Cys)
c.2819C>G (p.Ser940Cys)
c.2951C>G (p.Ser984Cys)
n.329+3058G>C
6g.33443548C>TCA363630260SYNGAP1,SYNGAP1-AS1c.2738C>T (p.Ser913Phe)
c.2996C>T (p.Ser999Phe)
c.2954C>T (p.Ser985Phe)
c.2819C>T (p.Ser940Phe)
c.2951C>T (p.Ser984Phe)
n.329+3058G>A
6g.33443549C>ACA450104153SYNGAP1,SYNGAP1-AS1c.2739C>A (p.Ser913=)
c.2997C>A (p.Ser999=)
c.2955C>A (p.Ser985=)
c.2820C>A (p.Ser940=)
c.2952C>A (p.Ser984=)
n.329+3057G>T
6g.33443549C>GCA450104154SYNGAP1,SYNGAP1-AS1c.2739C>G (p.Ser913=)
c.2997C>G (p.Ser999=)
c.2955C>G (p.Ser985=)
c.2820C>G (p.Ser940=)
c.2952C>G (p.Ser984=)
n.329+3057G>C
6g.33443549C>TCA450104155SYNGAP1,SYNGAP1-AS1c.2739C>T (p.Ser913=)
c.2997C>T (p.Ser999=)
c.2955C>T (p.Ser985=)
c.2820C>T (p.Ser940=)
c.2952C>T (p.Ser984=)
n.329+3057G>A
6g.33443550A=CA1620014680SYNGAP1,SYNGAP1-AS1c.2740A= (p.Ile914=)
c.2998A= (p.Ile1000=)
c.2956A= (p.Ile986=)
c.2821A= (p.Ile941=)
c.2953A= (p.Ile985=)
n.329+3056T=
6g.33443550A>CCA363630267SYNGAP1,SYNGAP1-AS1c.2740A>C (p.Ile914Leu)
c.2998A>C (p.Ile1000Leu)
c.2956A>C (p.Ile986Leu)
c.2821A>C (p.Ile941Leu)
c.2953A>C (p.Ile985Leu)
n.329+3056T>G
6g.33443550A>GCA363630269SYNGAP1,SYNGAP1-AS1c.2740A>G (p.Ile914Val)
c.2998A>G (p.Ile1000Val)
c.2956A>G (p.Ile986Val)
c.2821A>G (p.Ile941Val)
c.2953A>G (p.Ile985Val)
n.329+3056T>C
 ClinVar dbSNP
6g.33443550A>TCA363630271SYNGAP1,SYNGAP1-AS1c.2740A>T (p.Ile914Phe)
c.2998A>T (p.Ile1000Phe)
c.2956A>T (p.Ile986Phe)
c.2821A>T (p.Ile941Phe)
c.2953A>T (p.Ile985Phe)
n.329+3056T>A
6g.33443551T>ACA363630274SYNGAP1,SYNGAP1-AS1c.2741T>A (p.Ile914Asn)
c.2999T>A (p.Ile1000Asn)
c.2957T>A (p.Ile986Asn)
c.2822T>A (p.Ile941Asn)
c.2954T>A (p.Ile985Asn)
n.329+3055A>T
6g.33443551T>CCA363630280SYNGAP1,SYNGAP1-AS1c.2741T>C (p.Ile914Thr)
c.2999T>C (p.Ile1000Thr)
c.2957T>C (p.Ile986Thr)
c.2822T>C (p.Ile941Thr)
c.2954T>C (p.Ile985Thr)
n.329+3055A>G
 dbSNP
6g.33443551T>GCA363630284SYNGAP1,SYNGAP1-AS1c.2741T>G (p.Ile914Ser)
c.2999T>G (p.Ile1000Ser)
c.2957T>G (p.Ile986Ser)
c.2822T>G (p.Ile941Ser)
c.2954T>G (p.Ile985Ser)
n.329+3055A>C
6g.33443551T=CA1620014681SYNGAP1,SYNGAP1-AS1c.2741T= (p.Ile914=)
c.2999T= (p.Ile1000=)
c.2957T= (p.Ile986=)
c.2822T= (p.Ile941=)
c.2954T= (p.Ile985=)
n.329+3055A=
6g.33443552C>ACA450104158SYNGAP1,SYNGAP1-AS1c.2742C>A (p.Ile914=)
c.3000C>A (p.Ile1000=)
c.2958C>A (p.Ile986=)
c.2823C>A (p.Ile941=)
c.2955C>A (p.Ile985=)
n.329+3054G>T
6g.33443552C>GCA363630286SYNGAP1,SYNGAP1-AS1c.2742C>G (p.Ile914Met)
c.3000C>G (p.Ile1000Met)
c.2958C>G (p.Ile986Met)
c.2823C>G (p.Ile941Met)
c.2955C>G (p.Ile985Met)
n.329+3054G>C
6g.33443552C>TCA450104159SYNGAP1,SYNGAP1-AS1c.2742C>T (p.Ile914=)
c.3000C>T (p.Ile1000=)
c.2958C>T (p.Ile986=)
c.2823C>T (p.Ile941=)
c.2955C>T (p.Ile985=)
n.329+3054G>A
6g.33443553C>ACA363630287SYNGAP1,SYNGAP1-AS1c.2743C>A (p.Leu915Ile)
c.3001C>A (p.Leu1001Ile)
c.2959C>A (p.Leu987Ile)
c.2824C>A (p.Leu942Ile)
c.2956C>A (p.Leu986Ile)
n.329+3053G>T
6g.33443553C>GCA363630288SYNGAP1,SYNGAP1-AS1c.2743C>G (p.Leu915Val)
c.3001C>G (p.Leu1001Val)
c.2959C>G (p.Leu987Val)
c.2824C>G (p.Leu942Val)
c.2956C>G (p.Leu986Val)
n.329+3053G>C
6g.33443553C>TCA363630289SYNGAP1,SYNGAP1-AS1c.2743C>T (p.Leu915Phe)
c.3001C>T (p.Leu1001Phe)
c.2959C>T (p.Leu987Phe)
c.2824C>T (p.Leu942Phe)
c.2956C>T (p.Leu986Phe)
n.329+3053G>A
6g.33443554T>ACA363630292SYNGAP1,SYNGAP1-AS1c.2744T>A (p.Leu915His)
c.3002T>A (p.Leu1001His)
c.2960T>A (p.Leu987His)
c.2825T>A (p.Leu942His)
c.2957T>A (p.Leu986His)
n.329+3052A>T
6g.33443554T>CCA3758972SYNGAP1,SYNGAP1-AS1c.2744T>C (p.Leu915Pro)
c.3002T>C (p.Leu1001Pro)
c.2960T>C (p.Leu987Pro)
c.2825T>C (p.Leu942Pro)
c.2957T>C (p.Leu986Pro)
n.329+3052A>G
 ClinVar dbSNP ExAC gnomAD v2
6g.33443554T>GCA363630308SYNGAP1,SYNGAP1-AS1c.2744T>G (p.Leu915Arg)
c.3002T>G (p.Leu1001Arg)
c.2960T>G (p.Leu987Arg)
c.2825T>G (p.Leu942Arg)
c.2957T>G (p.Leu986Arg)
n.329+3052A>C
6g.33443554T=CA1620014682SYNGAP1,SYNGAP1-AS1c.2744T= (p.Leu915=)
c.3002T= (p.Leu1001=)
c.2960T= (p.Leu987=)
c.2825T= (p.Leu942=)
c.2957T= (p.Leu986=)
n.329+3052A=
6g.33443555T>ACA450104163SYNGAP1,SYNGAP1-AS1c.2745T>A (p.Leu915=)
c.3003T>A (p.Leu1001=)
c.2961T>A (p.Leu987=)
c.2826T>A (p.Leu942=)
c.2958T>A (p.Leu986=)
n.329+3051A>T
6g.33443555T>CCA450104162SYNGAP1,SYNGAP1-AS1c.2745T>C (p.Leu915=)
c.3003T>C (p.Leu1001=)
c.2961T>C (p.Leu987=)
c.2826T>C (p.Leu942=)
c.2958T>C (p.Leu986=)
n.329+3051A>G
6g.33443555T>GCA450104161SYNGAP1,SYNGAP1-AS1c.2745T>G (p.Leu915=)
c.3003T>G (p.Leu1001=)
c.2961T>G (p.Leu987=)
c.2826T>G (p.Leu942=)
c.2958T>G (p.Leu986=)
n.329+3051A>C
6g.33443556C>ACA363630314SYNGAP1,SYNGAP1-AS1c.2746C>A (p.His916Asn)
c.3004C>A (p.His1002Asn)
c.2962C>A (p.His988Asn)
c.2827C>A (p.His943Asn)
c.2959C>A (p.His987Asn)
n.329+3050G>T
6g.33443556C>GCA363630315SYNGAP1,SYNGAP1-AS1c.2746C>G (p.His916Asp)
c.3004C>G (p.His1002Asp)
c.2962C>G (p.His988Asp)
c.2827C>G (p.His943Asp)
c.2959C>G (p.His987Asp)
n.329+3050G>C
6g.33443556C>TCA363630317SYNGAP1,SYNGAP1-AS1c.2746C>T (p.His916Tyr)
c.3004C>T (p.His1002Tyr)
c.2962C>T (p.His988Tyr)
c.2827C>T (p.His943Tyr)
c.2959C>T (p.His987Tyr)
n.329+3050G>A
6g.33443557A>CCA363630319SYNGAP1,SYNGAP1-AS1c.2747A>C (p.His916Pro)
c.3005A>C (p.His1002Pro)
c.2963A>C (p.His988Pro)
c.2828A>C (p.His943Pro)
c.2960A>C (p.His987Pro)
n.329+3049T>G
6g.33443557A>GCA363630321SYNGAP1,SYNGAP1-AS1c.2747A>G (p.His916Arg)
c.3005A>G (p.His1002Arg)
c.2963A>G (p.His988Arg)
c.2828A>G (p.His943Arg)
c.2960A>G (p.His987Arg)
n.329+3049T>C
 gnomAD v4
6g.33443557A>TCA363630322SYNGAP1,SYNGAP1-AS1c.2747A>T (p.His916Leu)
c.3005A>T (p.His1002Leu)
c.2963A>T (p.His988Leu)
c.2828A>T (p.His943Leu)
c.2960A>T (p.His987Leu)
n.329+3049T>A
6g.33443558T>ACA363630325SYNGAP1,SYNGAP1-AS1c.2748T>A (p.His916Gln)
c.3006T>A (p.His1002Gln)
c.2964T>A (p.His988Gln)
c.2829T>A (p.His943Gln)
c.2961T>A (p.His987Gln)
n.329+3048A>T
6g.33443558T>CCA450104165SYNGAP1,SYNGAP1-AS1c.2748T>C (p.His916=)
c.3006T>C (p.His1002=)
c.2964T>C (p.His988=)
c.2829T>C (p.His943=)
c.2961T>C (p.His987=)
n.329+3048A>G
6g.33443558T>GCA363630329SYNGAP1,SYNGAP1-AS1c.2748T>G (p.His916Gln)
c.3006T>G (p.His1002Gln)
c.2964T>G (p.His988Gln)
c.2829T>G (p.His943Gln)
c.2961T>G (p.His987Gln)
n.329+3048A>C
6g.33443558_33443559insTTTTTTTTTTCA2678276466SYNGAP1,SYNGAP1-AS1c.2748_2749insTTTTTTTTTT (p.Ser917PhefsTer4)
c.3006_3007insTTTTTTTTTT (p.Ser1003PhefsTer4)
c.2964_2965insTTTTTTTTTT (p.Ser989PhefsTer4)
c.2829_2830insTTTTTTTTTT (p.Ser944PhefsTer4)
c.2961_2962insTTTTTTTTTT (p.Ser988PhefsTer4)
n.329+3048_329+3049insAAAAAAAAAA
 gnomAD v4
6g.33443558_33443559insTTTTTTTTTTAATGATACGGCGCA2770567200SYNGAP1,SYNGAP1-AS1c.2748_2749insTTTTTTTTTTAATGATACGGCG (p.Ser917PhefsTer4)
c.3006_3007insTTTTTTTTTTAATGATACGGCG (p.Ser1003PhefsTer4)
c.2964_2965insTTTTTTTTTTAATGATACGGCG (p.Ser989PhefsTer4)
c.2829_2830insTTTTTTTTTTAATGATACGGCG (p.Ser944PhefsTer4)
c.2961_2962insTTTTTTTTTTAATGATACGGCG (p.Ser988PhefsTer4)
n.329+3047_329+3048insCGCCGTATCATTAAAAAAAAAA
6g.33443559A=CA1620014683SYNGAP1,SYNGAP1-AS1c.2749A= (p.Ser917=)
c.3007A= (p.Ser1003=)
c.2965A= (p.Ser989=)
c.2830A= (p.Ser944=)
c.2962A= (p.Ser988=)
n.329+3047T=
6g.33443559A>CCA363630338SYNGAP1,SYNGAP1-AS1c.2749A>C (p.Ser917Arg)
c.3007A>C (p.Ser1003Arg)
c.2965A>C (p.Ser989Arg)
c.2830A>C (p.Ser944Arg)
c.2962A>C (p.Ser988Arg)
n.329+3047T>G
6g.33443559A>GCA363630331SYNGAP1,SYNGAP1-AS1c.2749A>G (p.Ser917Gly)
c.3007A>G (p.Ser1003Gly)
c.2965A>G (p.Ser989Gly)
c.2830A>G (p.Ser944Gly)
c.2962A>G (p.Ser988Gly)
n.329+3047T>C
 dbSNP gnomAD v2 gnomAD v4
6g.33443559A>TCA363630334SYNGAP1,SYNGAP1-AS1c.2749A>T (p.Ser917Cys)
c.3007A>T (p.Ser1003Cys)
c.2965A>T (p.Ser989Cys)
c.2830A>T (p.Ser944Cys)
c.2962A>T (p.Ser988Cys)
n.329+3047T>A
6g.33443560delCA2770567203SYNGAP1,SYNGAP1-AS1c.2750del (p.Ser917ThrfsTer?)
c.3008del (p.Ser1003ThrfsTer?)
c.2966del (p.Ser989ThrfsTer?)
c.2831del (p.Ser944ThrfsTer?)
c.2963del (p.Ser988ThrfsTer?)
n.329+3046del
6g.33443560G>ACA363630340SYNGAP1,SYNGAP1-AS1c.2750G>A (p.Ser917Asn)
c.3008G>A (p.Ser1003Asn)
c.2966G>A (p.Ser989Asn)
c.2831G>A (p.Ser944Asn)
c.2963G>A (p.Ser988Asn)
n.329+3046C>T
6g.33443560G>CCA363630341SYNGAP1,SYNGAP1-AS1c.2750G>C (p.Ser917Thr)
c.3008G>C (p.Ser1003Thr)
c.2966G>C (p.Ser989Thr)
c.2831G>C (p.Ser944Thr)
c.2963G>C (p.Ser988Thr)
n.329+3046C>G
6g.33443560G>TCA363630350SYNGAP1,SYNGAP1-AS1c.2750G>T (p.Ser917Ile)
c.3008G>T (p.Ser1003Ile)
c.2966G>T (p.Ser989Ile)
c.2831G>T (p.Ser944Ile)
c.2963G>T (p.Ser988Ile)
n.329+3046C>A
6g.33443560_33443574delCA2678276470SYNGAP1,SYNGAP1-AS1c.2750_2764del (p.Ser917_Asp922delinsAsn)
c.3008_3022del (p.Ser1003_Asp1008delinsAsn)
c.2966_2980del (p.Ser989_Asp994delinsAsn)
c.2831_2845del (p.Ser944_Asp949delinsAsn)
c.2963_2977del (p.Ser988_Asp993delinsAsn)
n.329+3032_329+3046del
 gnomAD v4
6g.33443561C>ACA363630356SYNGAP1,SYNGAP1-AS1c.2751C>A (p.Ser917Arg)
c.3009C>A (p.Ser1003Arg)
c.2967C>A (p.Ser989Arg)
c.2832C>A (p.Ser944Arg)
c.2964C>A (p.Ser988Arg)
n.329+3045G>T
6g.33443561C>GCA363630359SYNGAP1,SYNGAP1-AS1c.2751C>G (p.Ser917Arg)
c.3009C>G (p.Ser1003Arg)
c.2967C>G (p.Ser989Arg)
c.2832C>G (p.Ser944Arg)
c.2964C>G (p.Ser988Arg)
n.329+3045G>C
 ClinVar dbSNP
6g.33443561C>TCA450104168SYNGAP1,SYNGAP1-AS1c.2751C>T (p.Ser917=)
c.3009C>T (p.Ser1003=)
c.2967C>T (p.Ser989=)
c.2832C>T (p.Ser944=)
c.2964C>T (p.Ser988=)
n.329+3045G>A
6g.33443562C>ACA363630363SYNGAP1,SYNGAP1-AS1c.2752C>A (p.His918Asn)
c.3010C>A (p.His1004Asn)
c.2968C>A (p.His990Asn)
c.2833C>A (p.His945Asn)
c.2965C>A (p.His989Asn)
n.329+3044G>T
6g.33443562C>GCA363630364SYNGAP1,SYNGAP1-AS1c.2752C>G (p.His918Asp)
c.3010C>G (p.His1004Asp)
c.2968C>G (p.His990Asp)
c.2833C>G (p.His945Asp)
c.2965C>G (p.His989Asp)
n.329+3044G>C
6g.33443562C>TCA363630368SYNGAP1,SYNGAP1-AS1c.2752C>T (p.His918Tyr)
c.3010C>T (p.His1004Tyr)
c.2968C>T (p.His990Tyr)
c.2833C>T (p.His945Tyr)
c.2965C>T (p.His989Tyr)
n.329+3044G>A
6g.33443562_33443563insTTTTTTACA2678276471SYNGAP1,SYNGAP1-AS1c.2752_2753insTTTTTTA (p.His918LeufsTer3)
c.3010_3011insTTTTTTA (p.His1004LeufsTer3)
c.2968_2969insTTTTTTA (p.His990LeufsTer3)
c.2833_2834insTTTTTTA (p.His945LeufsTer3)
c.2965_2966insTTTTTTA (p.His989LeufsTer3)
n.329+3043_329+3044insTAAAAAA
 gnomAD v4
6g.33443562_33443563insTTTTTTAATGAGCA2678276475SYNGAP1,SYNGAP1-AS1c.2752_2753insTTTTTTAATGAG (p.His918LeufsTer3)
c.3010_3011insTTTTTTAATGAG (p.His1004LeufsTer3)
c.2968_2969insTTTTTTAATGAG (p.His990LeufsTer3)
c.2833_2834insTTTTTTAATGAG (p.His945LeufsTer3)
c.2965_2966insTTTTTTAATGAG (p.His989LeufsTer3)
n.329+3043_329+3044insCTCATTAAAAAA
 gnomAD v4
6g.33443562_33443563insTTTTTTAATGATCA2678276474SYNGAP1,SYNGAP1-AS1c.2752_2753insTTTTTTAATGAT (p.His918LeufsTer3)
c.3010_3011insTTTTTTAATGAT (p.His1004LeufsTer3)
c.2968_2969insTTTTTTAATGAT (p.His990LeufsTer3)
c.2833_2834insTTTTTTAATGAT (p.His945LeufsTer3)
c.2965_2966insTTTTTTAATGAT (p.His989LeufsTer3)
n.329+3043_329+3044insATCATTAAAAAA
 gnomAD v4
6g.33443563A>CCA363630374SYNGAP1,SYNGAP1-AS1c.2753A>C (p.His918Pro)
c.3011A>C (p.His1004Pro)
c.2969A>C (p.His990Pro)
c.2834A>C (p.His945Pro)
c.2966A>C (p.His989Pro)
n.329+3043T>G
6g.33443563A>GCA363630376SYNGAP1,SYNGAP1-AS1c.2753A>G (p.His918Arg)
c.3011A>G (p.His1004Arg)
c.2969A>G (p.His990Arg)
c.2834A>G (p.His945Arg)
c.2966A>G (p.His989Arg)
n.329+3043T>C
6g.33443563A>TCA363630379SYNGAP1,SYNGAP1-AS1c.2753A>T (p.His918Leu)
c.3011A>T (p.His1004Leu)
c.2969A>T (p.His990Leu)
c.2834A>T (p.His945Leu)
c.2966A>T (p.His989Leu)
n.329+3043T>A
6g.33443563_33443566delCA2678276472SYNGAP1,SYNGAP1-AS1c.2753_2756del (p.His918ProfsTer?)
c.3011_3014del (p.His1004ProfsTer?)
c.2969_2972del (p.His990ProfsTer?)
c.2834_2837del (p.His945ProfsTer?)
c.2966_2969del (p.His989ProfsTer?)
n.329+3040_329+3043del
 gnomAD v4
6g.33443564C>ACA363630383SYNGAP1,SYNGAP1-AS1c.2754C>A (p.His918Gln)
c.3012C>A (p.His1004Gln)
c.2970C>A (p.His990Gln)
c.2835C>A (p.His945Gln)
c.2967C>A (p.His989Gln)
n.329+3042G>T
6g.33443564C=CA1620014684SYNGAP1,SYNGAP1-AS1c.2754C= (p.His918=)
c.3012C= (p.His1004=)
c.2970C= (p.His990=)
c.2835C= (p.His945=)
c.2967C= (p.His989=)
n.329+3042G=
6g.33443564C>GCA363630386SYNGAP1,SYNGAP1-AS1c.2754C>G (p.His918Gln)
c.3012C>G (p.His1004Gln)
c.2970C>G (p.His990Gln)
c.2835C>G (p.His945Gln)
c.2967C>G (p.His989Gln)
n.329+3042G>C
 dbSNP gnomAD v3 gnomAD v4
6g.33443564C>TCA450104169SYNGAP1,SYNGAP1-AS1c.2754C>T (p.His918=)
c.3012C>T (p.His1004=)
c.2970C>T (p.His990=)
c.2835C>T (p.His945=)
c.2967C>T (p.His989=)
n.329+3042G>A
 dbSNP gnomAD v3 gnomAD v4
6g.33443564_33443572delCA2678276479SYNGAP1,SYNGAP1-AS1c.2754_2762del (p.Ser919_Ser921del)
c.3012_3020del (p.Ser1005_Ser1007del)
c.2970_2978del (p.Ser991_Ser993del)
c.2835_2843del (p.Ser946_Ser948del)
c.2967_2975del (p.Ser990_Ser992del)
n.329+3034_329+3042del
 gnomAD v4
6g.33443564_33443565insCGCA2770567206SYNGAP1,SYNGAP1-AS1c.2754_2755insCG (p.Ser919ArgfsTer?)
c.3012_3013insCG (p.Ser1005ArgfsTer?)
c.2970_2971insCG (p.Ser991ArgfsTer?)
c.2835_2836insCG (p.Ser946ArgfsTer?)
c.2967_2968insCG (p.Ser990ArgfsTer?)
n.329+3041_329+3042insCG
6g.33443565A>CCA363630398SYNGAP1,SYNGAP1-AS1c.2755A>C (p.Ser919Arg)
c.3013A>C (p.Ser1005Arg)
c.2971A>C (p.Ser991Arg)
c.2836A>C (p.Ser946Arg)
c.2968A>C (p.Ser990Arg)
n.329+3041T>G
6g.33443565A>GCA363630394SYNGAP1,SYNGAP1-AS1c.2755A>G (p.Ser919Gly)
c.3013A>G (p.Ser1005Gly)
c.2971A>G (p.Ser991Gly)
c.2836A>G (p.Ser946Gly)
c.2968A>G (p.Ser990Gly)
n.329+3041T>C
 gnomAD v4
6g.33443565A>TCA363630390SYNGAP1,SYNGAP1-AS1c.2755A>T (p.Ser919Cys)
c.3013A>T (p.Ser1005Cys)
c.2971A>T (p.Ser991Cys)
c.2836A>T (p.Ser946Cys)
c.2968A>T (p.Ser990Cys)
n.329+3041T>A
6g.33443566G>ACA363630405SYNGAP1,SYNGAP1-AS1c.2756G>A (p.Ser919Asn)
c.3014G>A (p.Ser1005Asn)
c.2972G>A (p.Ser991Asn)
c.2837G>A (p.Ser946Asn)
c.2969G>A (p.Ser990Asn)
n.329+3040C>T
 dbSNP gnomAD v4
6g.33443566G>CCA363630407SYNGAP1,SYNGAP1-AS1c.2756G>C (p.Ser919Thr)
c.3014G>C (p.Ser1005Thr)
c.2972G>C (p.Ser991Thr)
c.2837G>C (p.Ser946Thr)
c.2969G>C (p.Ser990Thr)
n.329+3040C>G
6g.33443566G>TCA363630409SYNGAP1,SYNGAP1-AS1c.2756G>T (p.Ser919Ile)
c.3014G>T (p.Ser1005Ile)
c.2972G>T (p.Ser991Ile)
c.2837G>T (p.Ser946Ile)
c.2969G>T (p.Ser990Ile)
n.329+3040C>A
6g.33443566_33443567insATCA2770567209SYNGAP1,SYNGAP1-AS1c.2756_2757insAT (p.Ser919ArgfsTer?)
c.3014_3015insAT (p.Ser1005ArgfsTer?)
c.2972_2973insAT (p.Ser991ArgfsTer?)
c.2837_2838insAT (p.Ser946ArgfsTer?)
c.2969_2970insAT (p.Ser990ArgfsTer?)
n.329+3039_329+3040insAT
6g.33443567C>ACA363630413SYNGAP1,SYNGAP1-AS1c.2757C>A (p.Ser919Arg)
c.3015C>A (p.Ser1005Arg)
c.2973C>A (p.Ser991Arg)
c.2838C>A (p.Ser946Arg)
c.2970C>A (p.Ser990Arg)
n.329+3039G>T
6g.33443567C>GCA363630417SYNGAP1,SYNGAP1-AS1c.2757C>G (p.Ser919Arg)
c.3015C>G (p.Ser1005Arg)
c.2973C>G (p.Ser991Arg)
c.2838C>G (p.Ser946Arg)
c.2970C>G (p.Ser990Arg)
n.329+3039G>C
 gnomAD v4
6g.33443567C>TCA450104171SYNGAP1,SYNGAP1-AS1c.2757C>T (p.Ser919=)
c.3015C>T (p.Ser1005=)
c.2973C>T (p.Ser991=)
c.2838C>T (p.Ser946=)
c.2970C>T (p.Ser990=)
n.329+3039G>A
6g.33443568T>ACA363630418SYNGAP1,SYNGAP1-AS1c.2758T>A (p.Tyr920Asn)
c.3016T>A (p.Tyr1006Asn)
c.2974T>A (p.Tyr992Asn)
c.2839T>A (p.Tyr947Asn)
c.2971T>A (p.Tyr991Asn)
n.329+3038A>T
6g.33443568T>CCA363630419SYNGAP1,SYNGAP1-AS1c.2758T>C (p.Tyr920His)
c.3016T>C (p.Tyr1006His)
c.2974T>C (p.Tyr992His)
c.2839T>C (p.Tyr947His)
c.2971T>C (p.Tyr991His)
n.329+3038A>G
6g.33443568T>GCA363630420SYNGAP1,SYNGAP1-AS1c.2758T>G (p.Tyr920Asp)
c.3016T>G (p.Tyr1006Asp)
c.2974T>G (p.Tyr992Asp)
c.2839T>G (p.Tyr947Asp)
c.2971T>G (p.Tyr991Asp)
n.329+3038A>C
 gnomAD v4
6g.33443569A>CCA363630423SYNGAP1,SYNGAP1-AS1c.2759A>C (p.Tyr920Ser)
c.3017A>C (p.Tyr1006Ser)
c.2975A>C (p.Tyr992Ser)
c.2840A>C (p.Tyr947Ser)
c.2972A>C (p.Tyr991Ser)
n.329+3037T>G
6g.33443569A>GCA363630425SYNGAP1,SYNGAP1-AS1c.2759A>G (p.Tyr920Cys)
c.3017A>G (p.Tyr1006Cys)
c.2975A>G (p.Tyr992Cys)
c.2840A>G (p.Tyr947Cys)
c.2972A>G (p.Tyr991Cys)
n.329+3037T>C
6g.33443569A>TCA363630428SYNGAP1,SYNGAP1-AS1c.2759A>T (p.Tyr920Phe)
c.3017A>T (p.Tyr1006Phe)
c.2975A>T (p.Tyr992Phe)
c.2840A>T (p.Tyr947Phe)
c.2972A>T (p.Tyr991Phe)
n.329+3037T>A
6g.33443570C>ACA363630433SYNGAP1,SYNGAP1-AS1c.2760C>A (p.Tyr920Ter)
c.3018C>A (p.Tyr1006Ter)
c.2976C>A (p.Tyr992Ter)
c.2841C>A (p.Tyr947Ter)
c.2973C>A (p.Tyr991Ter)
n.329+3036G>T
6g.33443570C=CA1620014685SYNGAP1,SYNGAP1-AS1c.2760C= (p.Tyr920=)
c.3018C= (p.Tyr1006=)
c.2976C= (p.Tyr992=)
c.2841C= (p.Tyr947=)
c.2973C= (p.Tyr991=)
n.329+3036G=
6g.33443570C>GCA363630438SYNGAP1,SYNGAP1-AS1c.2760C>G (p.Tyr920Ter)
c.3018C>G (p.Tyr1006Ter)
c.2976C>G (p.Tyr992Ter)
c.2841C>G (p.Tyr947Ter)
c.2973C>G (p.Tyr991Ter)
n.329+3036G>C
6g.33443570C>TCA450104173SYNGAP1,SYNGAP1-AS1c.2760C>T (p.Tyr920=)
c.3018C>T (p.Tyr1006=)
c.2976C>T (p.Tyr992=)
c.2841C>T (p.Tyr947=)
c.2973C>T (p.Tyr991=)
n.329+3036G>A
 dbSNP gnomAD v2 gnomAD v4
6g.33443570dupCA2678276490SYNGAP1,SYNGAP1-AS1c.2760dup (p.Ser921GlnfsTer2)
c.3018dup (p.Ser1007GlnfsTer2)
c.2976dup (p.Ser993GlnfsTer2)
c.2841dup (p.Ser948GlnfsTer2)
c.2973dup (p.Ser992GlnfsTer2)
n.329+3036dup
 gnomAD v4
6g.33443570_33443574delCA2678276492SYNGAP1,SYNGAP1-AS1c.2760_2764del (p.Tyr920Ter)
c.3018_3022del (p.Tyr1006Ter)
c.2976_2980del (p.Tyr992Ter)
c.2841_2845del (p.Tyr947Ter)
c.2973_2977del (p.Tyr991Ter)
n.329+3032_329+3036del
 gnomAD v4

Number of alleles fetched