Chr Mutation (hg38) CAid Gene Transcript Linkouts
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
6g.33443571A>CCA363630444SYNGAP1,SYNGAP1-AS1c.2761A>C (p.Ser921Arg)
c.3019A>C (p.Ser1007Arg)
c.2977A>C (p.Ser993Arg)
c.2842A>C (p.Ser948Arg)
c.2974A>C (p.Ser992Arg)
n.329+3035T>G
6g.33443571A>GCA363630451SYNGAP1,SYNGAP1-AS1c.2761A>G (p.Ser921Gly)
c.3019A>G (p.Ser1007Gly)
c.2977A>G (p.Ser993Gly)
c.2842A>G (p.Ser948Gly)
c.2974A>G (p.Ser992Gly)
n.329+3035T>C
6g.33443571A>TCA363630440SYNGAP1,SYNGAP1-AS1c.2761A>T (p.Ser921Cys)
c.3019A>T (p.Ser1007Cys)
c.2977A>T (p.Ser993Cys)
c.2842A>T (p.Ser948Cys)
c.2974A>T (p.Ser992Cys)
n.329+3035T>A
6g.33443572G>ACA363630458SYNGAP1,SYNGAP1-AS1c.2762G>A (p.Ser921Asn)
c.3020G>A (p.Ser1007Asn)
c.2978G>A (p.Ser993Asn)
c.2843G>A (p.Ser948Asn)
c.2975G>A (p.Ser992Asn)
n.329+3034C>T
 ClinVar
6g.33443572G>CCA363630467SYNGAP1,SYNGAP1-AS1c.2762G>C (p.Ser921Thr)
c.3020G>C (p.Ser1007Thr)
c.2978G>C (p.Ser993Thr)
c.2843G>C (p.Ser948Thr)
c.2975G>C (p.Ser992Thr)
n.329+3034C>G
 gnomAD v4
6g.33443572G>TCA363630485SYNGAP1,SYNGAP1-AS1c.2762G>T (p.Ser921Ile)
c.3020G>T (p.Ser1007Ile)
c.2978G>T (p.Ser993Ile)
c.2843G>T (p.Ser948Ile)
c.2975G>T (p.Ser992Ile)
n.329+3034C>A
6g.33443573_33443574delCA2770567214SYNGAP1,SYNGAP1-AS1c.2763_2764del (p.Ser921ArgfsTer2)
c.3021_3022del (p.Ser1007ArgfsTer2)
c.2979_2980del (p.Ser993ArgfsTer2)
c.2844_2845del (p.Ser948ArgfsTer2)
c.2976_2977del (p.Ser992ArgfsTer2)
n.329+3033_329+3034del
6g.33443573T>ACA363630486SYNGAP1,SYNGAP1-AS1c.2763T>A (p.Ser921Arg)
c.3021T>A (p.Ser1007Arg)
c.2979T>A (p.Ser993Arg)
c.2844T>A (p.Ser948Arg)
c.2976T>A (p.Ser992Arg)
n.329+3033A>T
6g.33443573T>CCA450104175SYNGAP1,SYNGAP1-AS1c.2763T>C (p.Ser921=)
c.3021T>C (p.Ser1007=)
c.2979T>C (p.Ser993=)
c.2844T>C (p.Ser948=)
c.2976T>C (p.Ser992=)
n.329+3033A>G
 gnomAD v4
6g.33443573T>GCA363630487SYNGAP1,SYNGAP1-AS1c.2763T>G (p.Ser921Arg)
c.3021T>G (p.Ser1007Arg)
c.2979T>G (p.Ser993Arg)
c.2844T>G (p.Ser948Arg)
c.2976T>G (p.Ser992Arg)
n.329+3033A>C
6g.33443574G>ACA363630490SYNGAP1,SYNGAP1-AS1c.2764G>A (p.Asp922Asn)
c.3022G>A (p.Asp1008Asn)
c.2980G>A (p.Asp994Asn)
c.2845G>A (p.Asp949Asn)
c.2977G>A (p.Asp993Asn)
n.329+3032C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.33443574G>CCA363630491SYNGAP1,SYNGAP1-AS1c.2764G>C (p.Asp922His)
c.3022G>C (p.Asp1008His)
c.2980G>C (p.Asp994His)
c.2845G>C (p.Asp949His)
c.2977G>C (p.Asp993His)
n.329+3032C>G
 gnomAD v4
6g.33443574G=CA1620014686SYNGAP1,SYNGAP1-AS1c.2764G= (p.Asp922=)
c.3022G= (p.Asp1008=)
c.2980G= (p.Asp994=)
c.2845G= (p.Asp949=)
c.2977G= (p.Asp993=)
n.329+3032C=
6g.33443574G>TCA363630498SYNGAP1,SYNGAP1-AS1c.2764G>T (p.Asp922Tyr)
c.3022G>T (p.Asp1008Tyr)
c.2980G>T (p.Asp994Tyr)
c.2845G>T (p.Asp949Tyr)
c.2977G>T (p.Asp993Tyr)
n.329+3032C>A
6g.33443575A=CA1620014687SYNGAP1,SYNGAP1-AS1c.2765A= (p.Asp922=)
c.3023A= (p.Asp1008=)
c.2981A= (p.Asp994=)
c.2846A= (p.Asp949=)
c.2978A= (p.Asp993=)
n.329+3031T=
6g.33443575A>CCA363630501SYNGAP1,SYNGAP1-AS1c.2765A>C (p.Asp922Ala)
c.3023A>C (p.Asp1008Ala)
c.2981A>C (p.Asp994Ala)
c.2846A>C (p.Asp949Ala)
c.2978A>C (p.Asp993Ala)
n.329+3031T>G
6g.33443575A>GCA363630509SYNGAP1,SYNGAP1-AS1c.2765A>G (p.Asp922Gly)
c.3023A>G (p.Asp1008Gly)
c.2981A>G (p.Asp994Gly)
c.2846A>G (p.Asp949Gly)
c.2978A>G (p.Asp993Gly)
n.329+3031T>C
 ClinVar dbSNP gnomAD v2 gnomAD v4
6g.33443575A>TCA363630510SYNGAP1,SYNGAP1-AS1c.2765A>T (p.Asp922Val)
c.3023A>T (p.Asp1008Val)
c.2981A>T (p.Asp994Val)
c.2846A>T (p.Asp949Val)
c.2978A>T (p.Asp993Val)
n.329+3031T>A
6g.33443576delCA2678276507SYNGAP1,SYNGAP1-AS1c.2766del (p.Asp922GlufsTer?)
c.3024del (p.Asp1008GlufsTer?)
c.2982del (p.Asp994GlufsTer?)
c.2847del (p.Asp949GlufsTer?)
c.2979del (p.Asp993GlufsTer?)
n.329+3030del
 gnomAD v4
6g.33443576T>ACA363630514SYNGAP1,SYNGAP1-AS1c.2766T>A (p.Asp922Glu)
c.3024T>A (p.Asp1008Glu)
c.2982T>A (p.Asp994Glu)
c.2847T>A (p.Asp949Glu)
c.2979T>A (p.Asp993Glu)
n.329+3030A>T
 gnomAD v4
6g.33443576T>CCA450104177SYNGAP1,SYNGAP1-AS1c.2766T>C (p.Asp922=)
c.3024T>C (p.Asp1008=)
c.2982T>C (p.Asp994=)
c.2847T>C (p.Asp949=)
c.2979T>C (p.Asp993=)
n.329+3030A>G
 gnomAD v4
6g.33443576T>GCA363630516SYNGAP1,SYNGAP1-AS1c.2766T>G (p.Asp922Glu)
c.3024T>G (p.Asp1008Glu)
c.2982T>G (p.Asp994Glu)
c.2847T>G (p.Asp949Glu)
c.2979T>G (p.Asp993Glu)
n.329+3030A>C
 gnomAD v4
6g.33443577G>ACA363630522SYNGAP1,SYNGAP1-AS1c.2767G>A (p.Glu923Lys)
c.3025G>A (p.Glu1009Lys)
c.2983G>A (p.Glu995Lys)
c.2848G>A (p.Glu950Lys)
c.2980G>A (p.Glu994Lys)
n.329+3029C>T
6g.33443577G>CCA363630519SYNGAP1,SYNGAP1-AS1c.2767G>C (p.Glu923Gln)
c.3025G>C (p.Glu1009Gln)
c.2983G>C (p.Glu995Gln)
c.2848G>C (p.Glu950Gln)
c.2980G>C (p.Glu994Gln)
n.329+3029C>G
 gnomAD v4
6g.33443577G=CA1620014688SYNGAP1,SYNGAP1-AS1c.2767G= (p.Glu923=)
c.3025G= (p.Glu1009=)
c.2983G= (p.Glu995=)
c.2848G= (p.Glu950=)
c.2980G= (p.Glu994=)
n.329+3029C=
6g.33443577G>TCA363630517SYNGAP1,SYNGAP1-AS1c.2767G>T (p.Glu923Ter)
c.3025G>T (p.Glu1009Ter)
c.2983G>T (p.Glu995Ter)
c.2848G>T (p.Glu950Ter)
c.2980G>T (p.Glu994Ter)
n.329+3029C>A
 ClinVar dbSNP
6g.33443577_33443584delCA2678276512SYNGAP1,SYNGAP1-AS1c.2767_2774del (p.Glu923ThrfsTer5)
c.3025_3032del (p.Glu1009ThrfsTer5)
c.2983_2990del (p.Glu995ThrfsTer5)
c.2848_2855del (p.Glu950ThrfsTer5)
c.2980_2987del (p.Glu994ThrfsTer5)
n.329+3022_329+3029del
 gnomAD v4
6g.33443578A>CCA363630525SYNGAP1,SYNGAP1-AS1c.2768A>C (p.Glu923Ala)
c.3026A>C (p.Glu1009Ala)
c.2984A>C (p.Glu995Ala)
c.2849A>C (p.Glu950Ala)
c.2981A>C (p.Glu994Ala)
n.329+3028T>G
 ClinVar
6g.33443578A>GCA363630543SYNGAP1,SYNGAP1-AS1c.2768A>G (p.Glu923Gly)
c.3026A>G (p.Glu1009Gly)
c.2984A>G (p.Glu995Gly)
c.2849A>G (p.Glu950Gly)
c.2981A>G (p.Glu994Gly)
n.329+3028T>C
6g.33443578A>TCA363630545SYNGAP1,SYNGAP1-AS1c.2768A>T (p.Glu923Val)
c.3026A>T (p.Glu1009Val)
c.2984A>T (p.Glu995Val)
c.2849A>T (p.Glu950Val)
c.2981A>T (p.Glu994Val)
n.329+3028T>A
6g.33443579delCA2678276522SYNGAP1,SYNGAP1-AS1c.2769del (p.Glu923AspfsTer?)
c.3027del (p.Glu1009AspfsTer?)
c.2985del (p.Glu995AspfsTer?)
c.2850del (p.Glu950AspfsTer?)
c.2982del (p.Glu994AspfsTer?)
n.329+3027del
 gnomAD v4
6g.33443579G>ACA450104179SYNGAP1,SYNGAP1-AS1c.2769G>A (p.Glu923=)
c.3027G>A (p.Glu1009=)
c.2985G>A (p.Glu995=)
c.2850G>A (p.Glu950=)
c.2982G>A (p.Glu994=)
n.329+3027C>T
 dbSNP gnomAD v3
6g.33443579G>CCA363630548SYNGAP1,SYNGAP1-AS1c.2769G>C (p.Glu923Asp)
c.3027G>C (p.Glu1009Asp)
c.2985G>C (p.Glu995Asp)
c.2850G>C (p.Glu950Asp)
c.2982G>C (p.Glu994Asp)
n.329+3027C>G
 dbSNP gnomAD v4
6g.33443579G=CA1620014689SYNGAP1,SYNGAP1-AS1c.2769G= (p.Glu923=)
c.3027G= (p.Glu1009=)
c.2985G= (p.Glu995=)
c.2850G= (p.Glu950=)
c.2982G= (p.Glu994=)
n.329+3027C=
6g.33443579G>TCA363630551SYNGAP1,SYNGAP1-AS1c.2769G>T (p.Glu923Asp)
c.3027G>T (p.Glu1009Asp)
c.2985G>T (p.Glu995Asp)
c.2850G>T (p.Glu950Asp)
c.2982G>T (p.Glu994Asp)
n.329+3027C>A
6g.33443579_33443581delCA2678276523SYNGAP1,SYNGAP1-AS1c.2769_2771del (p.Glu923_Phe924delinsAsp)
c.3027_3029del (p.Glu1009_Phe1010delinsAsp)
c.2985_2987del (p.Glu995_Phe996delinsAsp)
c.2850_2852del (p.Glu950_Phe951delinsAsp)
c.2982_2984del (p.Glu994_Phe995delinsAsp)
n.329+3025_329+3027del
 gnomAD v4
6g.33443579_33443588delCA2678276525SYNGAP1,SYNGAP1-AS1c.2769_2778del (p.Glu923AspfsTer?)
c.3027_3036del (p.Glu1009AspfsTer?)
c.2985_2994del (p.Glu995AspfsTer?)
c.2850_2859del (p.Glu950AspfsTer?)
c.2982_2991del (p.Glu994AspfsTer?)
n.329+3018_329+3027del
 gnomAD v4
6g.33443580T>ACA363630557SYNGAP1,SYNGAP1-AS1c.2770T>A (p.Phe924Ile)
c.3028T>A (p.Phe1010Ile)
c.2986T>A (p.Phe996Ile)
c.2851T>A (p.Phe951Ile)
c.2983T>A (p.Phe995Ile)
n.329+3026A>T
6g.33443580T>CCA363630561SYNGAP1,SYNGAP1-AS1c.2770T>C (p.Phe924Leu)
c.3028T>C (p.Phe1010Leu)
c.2986T>C (p.Phe996Leu)
c.2851T>C (p.Phe951Leu)
c.2983T>C (p.Phe995Leu)
n.329+3026A>G
6g.33443580T>GCA363630562SYNGAP1,SYNGAP1-AS1c.2770T>G (p.Phe924Val)
c.3028T>G (p.Phe1010Val)
c.2986T>G (p.Phe996Val)
c.2851T>G (p.Phe951Val)
c.2983T>G (p.Phe995Val)
n.329+3026A>C
6g.33443581T>ACA363630566SYNGAP1,SYNGAP1-AS1c.2771T>A (p.Phe924Tyr)
c.3029T>A (p.Phe1010Tyr)
c.2987T>A (p.Phe996Tyr)
c.2852T>A (p.Phe951Tyr)
c.2984T>A (p.Phe995Tyr)
n.329+3025A>T
6g.33443581T>CCA363630570SYNGAP1,SYNGAP1-AS1c.2771T>C (p.Phe924Ser)
c.3029T>C (p.Phe1010Ser)
c.2987T>C (p.Phe996Ser)
c.2852T>C (p.Phe951Ser)
c.2984T>C (p.Phe995Ser)
n.329+3025A>G
 gnomAD v4
6g.33443581T>GCA363630573SYNGAP1,SYNGAP1-AS1c.2771T>G (p.Phe924Cys)
c.3029T>G (p.Phe1010Cys)
c.2987T>G (p.Phe996Cys)
c.2852T>G (p.Phe951Cys)
c.2984T>G (p.Phe995Cys)
n.329+3025A>C
6g.33443581_33443582insACA2770567221SYNGAP1,SYNGAP1-AS1c.2771_2772insA (p.Phe924LeufsTer7)
c.3029_3030insA (p.Phe1010LeufsTer7)
c.2987_2988insA (p.Phe996LeufsTer7)
c.2852_2853insA (p.Phe951LeufsTer7)
c.2984_2985insA (p.Phe995LeufsTer7)
n.329+3024_329+3025insT
6g.33443582T>ACA363630578SYNGAP1,SYNGAP1-AS1c.2772T>A (p.Phe924Leu)
c.3030T>A (p.Phe1010Leu)
c.2988T>A (p.Phe996Leu)
c.2853T>A (p.Phe951Leu)
c.2985T>A (p.Phe995Leu)
n.329+3024A>T
6g.33443582T>CCA3758973SYNGAP1,SYNGAP1-AS1c.2772T>C (p.Phe924=)
c.3030T>C (p.Phe1010=)
c.2988T>C (p.Phe996=)
c.2853T>C (p.Phe951=)
c.2985T>C (p.Phe995=)
n.329+3024A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.33443582T>GCA363630589SYNGAP1,SYNGAP1-AS1c.2772T>G (p.Phe924Leu)
c.3030T>G (p.Phe1010Leu)
c.2988T>G (p.Phe996Leu)
c.2853T>G (p.Phe951Leu)
c.2985T>G (p.Phe995Leu)
n.329+3024A>C
6g.33443582T=CA1620014690SYNGAP1,SYNGAP1-AS1c.2772T= (p.Phe924=)
c.3030T= (p.Phe1010=)
c.2988T= (p.Phe996=)
c.2853T= (p.Phe951=)
c.2985T= (p.Phe995=)
n.329+3024A=
6g.33443582_33443583insACCA2678276544SYNGAP1,SYNGAP1-AS1c.2772_2773insAC (p.Gly925ThrfsTer?)
c.3030_3031insAC (p.Gly1011ThrfsTer?)
c.2988_2989insAC (p.Gly997ThrfsTer?)
c.2853_2854insAC (p.Gly952ThrfsTer?)
c.2985_2986insAC (p.Gly996ThrfsTer?)
n.329+3023_329+3024insGT
 gnomAD v4
6g.33443583G>ACA363630597SYNGAP1,SYNGAP1-AS1c.2773G>A (p.Gly925Arg)
c.3031G>A (p.Gly1011Arg)
c.2989G>A (p.Gly997Arg)
c.2854G>A (p.Gly952Arg)
c.2986G>A (p.Gly996Arg)
n.329+3023C>T
 gnomAD v4
6g.33443583G>CCA363630600SYNGAP1,SYNGAP1-AS1c.2773G>C (p.Gly925Arg)
c.3031G>C (p.Gly1011Arg)
c.2989G>C (p.Gly997Arg)
c.2854G>C (p.Gly952Arg)
c.2986G>C (p.Gly996Arg)
n.329+3023C>G
6g.33443583G=CA1620014691SYNGAP1,SYNGAP1-AS1c.2773G= (p.Gly925=)
c.3031G= (p.Gly1011=)
c.2989G= (p.Gly997=)
c.2854G= (p.Gly952=)
c.2986G= (p.Gly996=)
n.329+3023C=
6g.33443583G>TCA363630596SYNGAP1,SYNGAP1-AS1c.2773G>T (p.Gly925Ter)
c.3031G>T (p.Gly1011Ter)
c.2989G>T (p.Gly997Ter)
c.2854G>T (p.Gly952Ter)
c.2986G>T (p.Gly996Ter)
n.329+3023C>A
 dbSNP
6g.33443583_33443584delCA2678276542SYNGAP1,SYNGAP1-AS1c.2773_2774del (p.Gly925ThrfsTer5)
c.3031_3032del (p.Gly1011ThrfsTer5)
c.2989_2990del (p.Gly997ThrfsTer5)
c.2854_2855del (p.Gly952ThrfsTer5)
c.2986_2987del (p.Gly996ThrfsTer5)
n.329+3022_329+3023del
 gnomAD v4
6g.33443583_33443606delCA2770567222SYNGAP1,SYNGAP1-AS1c.2773_2796del (p.Gly925_Thr932del)
c.3031_3054del (p.Gly1011_Thr1018del)
c.2989_3012del (p.Gly997_Thr1004del)
c.2854_2877del (p.Gly952_Thr959del)
c.2986_3009del (p.Gly996_Thr1003del)
n.329+3000_329+3023del
6g.33443584G>ACA363630604SYNGAP1,SYNGAP1-AS1c.2774G>A (p.Gly925Glu)
c.3032G>A (p.Gly1011Glu)
c.2990G>A (p.Gly997Glu)
c.2855G>A (p.Gly952Glu)
c.2987G>A (p.Gly996Glu)
n.329+3022C>T
6g.33443584G>CCA363630608SYNGAP1,SYNGAP1-AS1c.2774G>C (p.Gly925Ala)
c.3032G>C (p.Gly1011Ala)
c.2990G>C (p.Gly997Ala)
c.2855G>C (p.Gly952Ala)
c.2987G>C (p.Gly996Ala)
n.329+3022C>G
 gnomAD v4
6g.33443584G>TCA363630609SYNGAP1,SYNGAP1-AS1c.2774G>T (p.Gly925Val)
c.3032G>T (p.Gly1011Val)
c.2990G>T (p.Gly997Val)
c.2855G>T (p.Gly952Val)
c.2987G>T (p.Gly996Val)
n.329+3022C>A
6g.33443584_33443585insCGCA2678276545SYNGAP1,SYNGAP1-AS1c.2774_2775insCG (p.Pro926AspfsTer?)
c.3032_3033insCG (p.Pro1012AspfsTer?)
c.2990_2991insCG (p.Pro998AspfsTer?)
c.2855_2856insCG (p.Pro953AspfsTer?)
c.2987_2988insCG (p.Pro997AspfsTer?)
n.329+3022_329+3023insGC
 gnomAD v4
6g.33443585A>CCA450104186SYNGAP1,SYNGAP1-AS1c.2775A>C (p.Gly925=)
c.3033A>C (p.Gly1011=)
c.2991A>C (p.Gly997=)
c.2856A>C (p.Gly952=)
c.2988A>C (p.Gly996=)
n.329+3021T>G
6g.33443585A>GCA450104187SYNGAP1,SYNGAP1-AS1c.2775A>G (p.Gly925=)
c.3033A>G (p.Gly1011=)
c.2991A>G (p.Gly997=)
c.2856A>G (p.Gly952=)
c.2988A>G (p.Gly996=)
n.329+3021T>C
6g.33443585A>TCA450104188SYNGAP1,SYNGAP1-AS1c.2775A>T (p.Gly925=)
c.3033A>T (p.Gly1011=)
c.2991A>T (p.Gly997=)
c.2856A>T (p.Gly952=)
c.2988A>T (p.Gly996=)
n.329+3021T>A
6g.33443585_33443586delinsACCA1620014692SYNGAP1,SYNGAP1-AS1c.2775_2776delinsAC (p.Gly925=)
c.3033_3034delinsAC (p.Gly1011=)
c.2991_2992delinsAC (p.Gly997=)
c.2856_2857delinsAC (p.Gly952=)
c.2988_2989delinsAC (p.Gly996=)
n.329+3020_329+3021delinsGT
6g.33443586C>ACA363630610SYNGAP1,SYNGAP1-AS1c.2776C>A (p.Pro926Thr)
c.3034C>A (p.Pro1012Thr)
c.2992C>A (p.Pro998Thr)
c.2857C>A (p.Pro953Thr)
c.2989C>A (p.Pro997Thr)
n.329+3020G>T
6g.33443586C>GCA363630611SYNGAP1,SYNGAP1-AS1c.2776C>G (p.Pro926Ala)
c.3034C>G (p.Pro1012Ala)
c.2992C>G (p.Pro998Ala)
c.2857C>G (p.Pro953Ala)
c.2989C>G (p.Pro997Ala)
n.329+3020G>C
6g.33443586C>TCA363630612SYNGAP1,SYNGAP1-AS1c.2776C>T (p.Pro926Ser)
c.3034C>T (p.Pro1012Ser)
c.2992C>T (p.Pro998Ser)
c.2857C>T (p.Pro953Ser)
c.2989C>T (p.Pro997Ser)
n.329+3020G>A
 gnomAD v4
6g.33443588delCA658796746SYNGAP1,SYNGAP1-AS1c.2778del (p.Ser927LeufsTer?)
c.3036del (p.Ser1013LeufsTer?)
c.2994del (p.Ser999LeufsTer?)
c.2859del (p.Ser954LeufsTer?)
c.2991del (p.Ser998LeufsTer?)
n.329+3020del
 ClinVar dbSNP
6g.33443587C>ACA363630613SYNGAP1,SYNGAP1-AS1c.2777C>A (p.Pro926His)
c.3035C>A (p.Pro1012His)
c.2993C>A (p.Pro998His)
c.2858C>A (p.Pro953His)
c.2990C>A (p.Pro997His)
n.329+3019G>T
6g.33443587C>GCA363630617SYNGAP1,SYNGAP1-AS1c.2777C>G (p.Pro926Arg)
c.3035C>G (p.Pro1012Arg)
c.2993C>G (p.Pro998Arg)
c.2858C>G (p.Pro953Arg)
c.2990C>G (p.Pro997Arg)
n.329+3019G>C
6g.33443587C>TCA363630621SYNGAP1,SYNGAP1-AS1c.2777C>T (p.Pro926Leu)
c.3035C>T (p.Pro1012Leu)
c.2993C>T (p.Pro998Leu)
c.2858C>T (p.Pro953Leu)
c.2990C>T (p.Pro997Leu)
n.329+3019G>A
6g.33443587_33443591delCA2678276552SYNGAP1,SYNGAP1-AS1c.2777_2781del (p.Pro926ArgfsTer3)
c.3035_3039del (p.Pro1012ArgfsTer3)
c.2993_2997del (p.Pro998ArgfsTer3)
c.2858_2862del (p.Pro953ArgfsTer3)
c.2990_2994del (p.Pro997ArgfsTer3)
n.329+3015_329+3019del
 gnomAD v4
6g.33443587_33443588insACA2678276553SYNGAP1,SYNGAP1-AS1c.2777_2778insA (p.Ser927LeufsTer4)
c.3035_3036insA (p.Ser1013LeufsTer4)
c.2993_2994insA (p.Ser999LeufsTer4)
c.2858_2859insA (p.Ser954LeufsTer4)
c.2990_2991insA (p.Ser998LeufsTer4)
n.329+3018_329+3019insT
 gnomAD v4
6g.33443587_33443588insAGCA2770567223SYNGAP1,SYNGAP1-AS1c.2777_2778insAG (p.Ser927AlafsTer?)
c.3035_3036insAG (p.Ser1013AlafsTer?)
c.2993_2994insAG (p.Ser999AlafsTer?)
c.2858_2859insAG (p.Ser954AlafsTer?)
c.2990_2991insAG (p.Ser998AlafsTer?)
n.329+3018_329+3019insCT
6g.33443588C>ACA450104191SYNGAP1,SYNGAP1-AS1c.2778C>A (p.Pro926=)
c.3036C>A (p.Pro1012=)
c.2994C>A (p.Pro998=)
c.2859C>A (p.Pro953=)
c.2991C>A (p.Pro997=)
n.329+3018G>T
6g.33443588C=CA1620014693SYNGAP1,SYNGAP1-AS1c.2778C= (p.Pro926=)
c.3036C= (p.Pro1012=)
c.2994C= (p.Pro998=)
c.2859C= (p.Pro953=)
c.2991C= (p.Pro997=)
n.329+3018G=
6g.33443588C>GCA137073261SYNGAP1,SYNGAP1-AS1c.2778C>G (p.Pro926=)
c.3036C>G (p.Pro1012=)
c.2994C>G (p.Pro998=)
c.2859C>G (p.Pro953=)
c.2991C>G (p.Pro997=)
n.329+3018G>C
 dbSNP
6g.33443588C>TCA450104192SYNGAP1,SYNGAP1-AS1c.2778C>T (p.Pro926=)
c.3036C>T (p.Pro1012=)
c.2994C>T (p.Pro998=)
c.2859C>T (p.Pro953=)
c.2991C>T (p.Pro997=)
n.329+3018G>A
 gnomAD v4
6g.33443588_33443589insCGAGACA2678276560SYNGAP1,SYNGAP1-AS1c.2778_2779insCGAGA (p.Ser927ArgfsTer?)
c.3036_3037insCGAGA (p.Ser1013ArgfsTer?)
c.2994_2995insCGAGA (p.Ser999ArgfsTer?)
c.2859_2860insCGAGA (p.Ser954ArgfsTer?)
c.2991_2992insCGAGA (p.Ser998ArgfsTer?)
n.329+3017_329+3018insTCTCG
 gnomAD v4
6g.33443589T>ACA363630624SYNGAP1,SYNGAP1-AS1c.2779T>A (p.Ser927Thr)
c.3037T>A (p.Ser1013Thr)
c.2995T>A (p.Ser999Thr)
c.2860T>A (p.Ser954Thr)
c.2992T>A (p.Ser998Thr)
n.329+3017A>T
6g.33443589T>CCA3758974SYNGAP1,SYNGAP1-AS1c.2779T>C (p.Ser927Pro)
c.3037T>C (p.Ser1013Pro)
c.2995T>C (p.Ser999Pro)
c.2860T>C (p.Ser954Pro)
c.2992T>C (p.Ser998Pro)
n.329+3017A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.33443589T>GCA363630629SYNGAP1,SYNGAP1-AS1c.2779T>G (p.Ser927Ala)
c.3037T>G (p.Ser1013Ala)
c.2995T>G (p.Ser999Ala)
c.2860T>G (p.Ser954Ala)
c.2992T>G (p.Ser998Ala)
n.329+3017A>C
6g.33443589T=CA1620014694SYNGAP1,SYNGAP1-AS1c.2779T= (p.Ser927=)
c.3037T= (p.Ser1013=)
c.2995T= (p.Ser999=)
c.2860T= (p.Ser954=)
c.2992T= (p.Ser998=)
n.329+3017A=
6g.33443590C>ACA363630640SYNGAP1,SYNGAP1-AS1c.2780C>A (p.Ser927Tyr)
c.3038C>A (p.Ser1013Tyr)
c.2996C>A (p.Ser999Tyr)
c.2861C>A (p.Ser954Tyr)
c.2993C>A (p.Ser998Tyr)
n.329+3016G>T
6g.33443590C=CA1620014695SYNGAP1,SYNGAP1-AS1c.2780C= (p.Ser927=)
c.3038C= (p.Ser1013=)
c.2996C= (p.Ser999=)
c.2861C= (p.Ser954=)
c.2993C= (p.Ser998=)
n.329+3016G=
6g.33443590C>GCA3758975SYNGAP1,SYNGAP1-AS1c.2780C>G (p.Ser927Cys)
c.3038C>G (p.Ser1013Cys)
c.2996C>G (p.Ser999Cys)
c.2861C>G (p.Ser954Cys)
c.2993C>G (p.Ser998Cys)
n.329+3016G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6g.33443590C>TCA363630635SYNGAP1,SYNGAP1-AS1c.2780C>T (p.Ser927Phe)
c.3038C>T (p.Ser1013Phe)
c.2996C>T (p.Ser999Phe)
c.2861C>T (p.Ser954Phe)
c.2993C>T (p.Ser998Phe)
n.329+3016G>A
 gnomAD v4
6g.33443591_33443594delCA2770567224SYNGAP1,SYNGAP1-AS1c.2781_2784del (p.Gly928LeufsTer?)
c.3039_3042del (p.Gly1014LeufsTer?)
c.2997_3000del (p.Gly1000LeufsTer?)
c.2862_2865del (p.Gly955LeufsTer?)
c.2994_2997del (p.Gly999LeufsTer?)
n.329+3013_329+3016del
6g.33443591T>ACA450104196SYNGAP1,SYNGAP1-AS1c.2781T>A (p.Ser927=)
c.3039T>A (p.Ser1013=)
c.2997T>A (p.Ser999=)
c.2862T>A (p.Ser954=)
c.2994T>A (p.Ser998=)
n.329+3015A>T
 gnomAD v4
6g.33443591T>CCA3758976SYNGAP1,SYNGAP1-AS1c.2781T>C (p.Ser927=)
c.3039T>C (p.Ser1013=)
c.2997T>C (p.Ser999=)
c.2862T>C (p.Ser954=)
c.2994T>C (p.Ser998=)
n.329+3015A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.33443591T>GCA450104197SYNGAP1,SYNGAP1-AS1c.2781T>G (p.Ser927=)
c.3039T>G (p.Ser1013=)
c.2997T>G (p.Ser999=)
c.2862T>G (p.Ser954=)
c.2994T>G (p.Ser998=)
n.329+3015A>C
6g.33443591T=CA1620014696SYNGAP1,SYNGAP1-AS1c.2781T= (p.Ser927=)
c.3039T= (p.Ser1013=)
c.2997T= (p.Ser999=)
c.2862T= (p.Ser954=)
c.2994T= (p.Ser998=)
n.329+3015A=
6g.33443592G>ACA363630643SYNGAP1,SYNGAP1-AS1c.2782G>A (p.Gly928Ser)
c.3040G>A (p.Gly1014Ser)
c.2998G>A (p.Gly1000Ser)
c.2863G>A (p.Gly955Ser)
c.2995G>A (p.Gly999Ser)
n.329+3014C>T
 dbSNP
6g.33443592G>CCA363630647SYNGAP1,SYNGAP1-AS1c.2782G>C (p.Gly928Arg)
c.3040G>C (p.Gly1014Arg)
c.2998G>C (p.Gly1000Arg)
c.2863G>C (p.Gly955Arg)
c.2995G>C (p.Gly999Arg)
n.329+3014C>G
6g.33443592G>TCA363630649SYNGAP1,SYNGAP1-AS1c.2782G>T (p.Gly928Cys)
c.3040G>T (p.Gly1014Cys)
c.2998G>T (p.Gly1000Cys)
c.2863G>T (p.Gly955Cys)
c.2995G>T (p.Gly999Cys)
n.329+3014C>A
6g.33443593delCA2678276573SYNGAP1,SYNGAP1-AS1c.2783del (p.Gly928AlafsTer?)
c.3041del (p.Gly1014AlafsTer?)
c.2999del (p.Gly1000AlafsTer?)
c.2864del (p.Gly955AlafsTer?)
c.2996del (p.Gly999AlafsTer?)
n.329+3014del
 gnomAD v4
6g.33443592_33443594delCA2678276572SYNGAP1,SYNGAP1-AS1c.2782_2784del (p.Gly928del)
c.3040_3042del (p.Gly1014del)
c.2998_3000del (p.Gly1000del)
c.2863_2865del (p.Gly955del)
c.2995_2997del (p.Gly999del)
n.329+3012_329+3014del
 gnomAD v4

Number of alleles fetched