Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.33443271A>CCA363626837SYNGAP1,SYNGAP1-AS1c.2461A>C (p.Ser821Arg)
c.2719A>C (p.Ser907Arg)
c.2677A>C (p.Ser893Arg)
c.2542A>C (p.Ser848Arg)
c.2674A>C (p.Ser892Arg)
n.329+3335T>G
6g.33443271A>GCA363626832SYNGAP1,SYNGAP1-AS1c.2461A>G (p.Ser821Gly)
c.2719A>G (p.Ser907Gly)
c.2677A>G (p.Ser893Gly)
c.2542A>G (p.Ser848Gly)
c.2674A>G (p.Ser892Gly)
n.329+3335T>C
6g.33443271A>TCA363626834SYNGAP1,SYNGAP1-AS1c.2461A>T (p.Ser821Cys)
c.2719A>T (p.Ser907Cys)
c.2677A>T (p.Ser893Cys)
c.2542A>T (p.Ser848Cys)
c.2674A>T (p.Ser892Cys)
n.329+3335T>A
 ClinVar dbSNP
6g.33443272G>ACA363626842SYNGAP1,SYNGAP1-AS1c.2462G>A (p.Ser821Asn)
c.2720G>A (p.Ser907Asn)
c.2678G>A (p.Ser893Asn)
c.2543G>A (p.Ser848Asn)
c.2675G>A (p.Ser892Asn)
n.329+3334C>T
6g.33443272G>CCA363626843SYNGAP1,SYNGAP1-AS1c.2462G>C (p.Ser821Thr)
c.2720G>C (p.Ser907Thr)
c.2678G>C (p.Ser893Thr)
c.2543G>C (p.Ser848Thr)
c.2675G>C (p.Ser892Thr)
n.329+3334C>G
 dbSNP
6g.33443272G=CA1620014568SYNGAP1,SYNGAP1-AS1c.2462G= (p.Ser821=)
c.2720G= (p.Ser907=)
c.2678G= (p.Ser893=)
c.2543G= (p.Ser848=)
c.2675G= (p.Ser892=)
n.329+3334C=
6g.33443272G>TCA363626844SYNGAP1,SYNGAP1-AS1c.2462G>T (p.Ser821Ile)
c.2720G>T (p.Ser907Ile)
c.2678G>T (p.Ser893Ile)
c.2543G>T (p.Ser848Ile)
c.2675G>T (p.Ser892Ile)
n.329+3334C>A
6g.33443273C>ACA363626847SYNGAP1,SYNGAP1-AS1c.2463C>A (p.Ser821Arg)
c.2721C>A (p.Ser907Arg)
c.2679C>A (p.Ser893Arg)
c.2544C>A (p.Ser848Arg)
c.2676C>A (p.Ser892Arg)
n.329+3333G>T
6g.33443273C>GCA363626848SYNGAP1,SYNGAP1-AS1c.2463C>G (p.Ser821Arg)
c.2721C>G (p.Ser907Arg)
c.2679C>G (p.Ser893Arg)
c.2544C>G (p.Ser848Arg)
c.2676C>G (p.Ser892Arg)
n.329+3333G>C
6g.33443273C>TCA450103848SYNGAP1,SYNGAP1-AS1c.2463C>T (p.Ser821=)
c.2721C>T (p.Ser907=)
c.2679C>T (p.Ser893=)
c.2544C>T (p.Ser848=)
c.2676C>T (p.Ser892=)
n.329+3333G>A
6g.33443274C>ACA363626852SYNGAP1,SYNGAP1-AS1c.2464C>A (p.Gln822Lys)
c.2722C>A (p.Gln908Lys)
c.2680C>A (p.Gln894Lys)
c.2545C>A (p.Gln849Lys)
c.2677C>A (p.Gln893Lys)
n.329+3332G>T
6g.33443274C=CA1620014569SYNGAP1,SYNGAP1-AS1c.2464C= (p.Gln822=)
c.2722C= (p.Gln908=)
c.2680C= (p.Gln894=)
c.2545C= (p.Gln849=)
c.2677C= (p.Gln893=)
n.329+3332G=
6g.33443274C>GCA363626855SYNGAP1,SYNGAP1-AS1c.2464C>G (p.Gln822Glu)
c.2722C>G (p.Gln908Glu)
c.2680C>G (p.Gln894Glu)
c.2545C>G (p.Gln849Glu)
c.2677C>G (p.Gln893Glu)
n.329+3332G>C
6g.33443274C>TCA363626861SYNGAP1,SYNGAP1-AS1c.2464C>T (p.Gln822Ter)
c.2722C>T (p.Gln908Ter)
c.2680C>T (p.Gln894Ter)
c.2545C>T (p.Gln849Ter)
c.2677C>T (p.Gln893Ter)
n.329+3332G>A
 dbSNP
6g.33443275A>CCA363626863SYNGAP1,SYNGAP1-AS1c.2465A>C (p.Gln822Pro)
c.2723A>C (p.Gln908Pro)
c.2681A>C (p.Gln894Pro)
c.2546A>C (p.Gln849Pro)
c.2678A>C (p.Gln893Pro)
n.329+3331T>G
6g.33443275A>GCA363626865SYNGAP1,SYNGAP1-AS1c.2465A>G (p.Gln822Arg)
c.2723A>G (p.Gln908Arg)
c.2681A>G (p.Gln894Arg)
c.2546A>G (p.Gln849Arg)
c.2678A>G (p.Gln893Arg)
n.329+3331T>C
6g.33443275A>TCA363626868SYNGAP1,SYNGAP1-AS1c.2465A>T (p.Gln822Leu)
c.2723A>T (p.Gln908Leu)
c.2681A>T (p.Gln894Leu)
c.2546A>T (p.Gln849Leu)
c.2678A>T (p.Gln893Leu)
n.329+3331T>A
6g.33443276G>ACA450103994SYNGAP1,SYNGAP1-AS1c.2466G>A (p.Gln822=)
c.2724G>A (p.Gln908=)
c.2682G>A (p.Gln894=)
c.2547G>A (p.Gln849=)
c.2679G>A (p.Gln893=)
n.329+3330C>T
6g.33443276G>CCA363628153SYNGAP1,SYNGAP1-AS1c.2466G>C (p.Gln822His)
c.2724G>C (p.Gln908His)
c.2682G>C (p.Gln894His)
c.2547G>C (p.Gln849His)
c.2679G>C (p.Gln893His)
n.329+3330C>G
 ClinVar dbSNP gnomAD v4
6g.33443276G=CA1620014570SYNGAP1,SYNGAP1-AS1c.2466G= (p.Gln822=)
c.2724G= (p.Gln908=)
c.2682G= (p.Gln894=)
c.2547G= (p.Gln849=)
c.2679G= (p.Gln893=)
n.329+3330C=
6g.33443276G>TCA363628155SYNGAP1,SYNGAP1-AS1c.2466G>T (p.Gln822His)
c.2724G>T (p.Gln908His)
c.2682G>T (p.Gln894His)
c.2547G>T (p.Gln849His)
c.2679G>T (p.Gln893His)
n.329+3330C>A
6g.33443277A=CA1620014571SYNGAP1,SYNGAP1-AS1c.2467A= (p.Met823=)
c.2725A= (p.Met909=)
c.2683A= (p.Met895=)
c.2548A= (p.Met850=)
c.2680A= (p.Met894=)
n.329+3329T=
6g.33443277A>CCA363628157SYNGAP1,SYNGAP1-AS1c.2467A>C (p.Met823Leu)
c.2725A>C (p.Met909Leu)
c.2683A>C (p.Met895Leu)
c.2548A>C (p.Met850Leu)
c.2680A>C (p.Met894Leu)
n.329+3329T>G
6g.33443277A>GCA363628160SYNGAP1,SYNGAP1-AS1c.2467A>G (p.Met823Val)
c.2725A>G (p.Met909Val)
c.2683A>G (p.Met895Val)
c.2548A>G (p.Met850Val)
c.2680A>G (p.Met894Val)
n.329+3329T>C
6g.33443277A>TCA363628163SYNGAP1,SYNGAP1-AS1c.2467A>T (p.Met823Leu)
c.2725A>T (p.Met909Leu)
c.2683A>T (p.Met895Leu)
c.2548A>T (p.Met850Leu)
c.2680A>T (p.Met894Leu)
n.329+3329T>A
 dbSNP gnomAD v2 gnomAD v4
6g.33443277_33443278delinsATCA1620014572SYNGAP1,SYNGAP1-AS1c.2467_2468delinsAT (p.Met823=)
c.2725_2726delinsAT (p.Met909=)
c.2683_2684delinsAT (p.Met895=)
c.2548_2549delinsAT (p.Met850=)
c.2680_2681delinsAT (p.Met894=)
n.329+3328_329+3329delinsAT
6g.33443278delCA891843217SYNGAP1,SYNGAP1-AS1c.2468del (p.Met823ArgfsTer?)
c.2726del (p.Met909ArgfsTer?)
c.2684del (p.Met895ArgfsTer?)
c.2549del (p.Met850ArgfsTer?)
c.2681del (p.Met894ArgfsTer?)
n.329+3328del
 ClinVar dbSNP
6g.33443278T>ACA363628167SYNGAP1,SYNGAP1-AS1c.2468T>A (p.Met823Lys)
c.2726T>A (p.Met909Lys)
c.2684T>A (p.Met895Lys)
c.2549T>A (p.Met850Lys)
c.2681T>A (p.Met894Lys)
n.329+3328A>T
6g.33443278T>CCA363628171SYNGAP1,SYNGAP1-AS1c.2468T>C (p.Met823Thr)
c.2726T>C (p.Met909Thr)
c.2684T>C (p.Met895Thr)
c.2549T>C (p.Met850Thr)
c.2681T>C (p.Met894Thr)
n.329+3328A>G
6g.33443278T>GCA363628174SYNGAP1,SYNGAP1-AS1c.2468T>G (p.Met823Arg)
c.2726T>G (p.Met909Arg)
c.2684T>G (p.Met895Arg)
c.2549T>G (p.Met850Arg)
c.2681T>G (p.Met894Arg)
n.329+3328A>C
6g.33443279G>ACA363628177SYNGAP1,SYNGAP1-AS1c.2469G>A (p.Met823Ile)
c.2727G>A (p.Met909Ile)
c.2685G>A (p.Met895Ile)
c.2550G>A (p.Met850Ile)
c.2682G>A (p.Met894Ile)
n.329+3327C>T
6g.33443279G>CCA363628178SYNGAP1,SYNGAP1-AS1c.2469G>C (p.Met823Ile)
c.2727G>C (p.Met909Ile)
c.2685G>C (p.Met895Ile)
c.2550G>C (p.Met850Ile)
c.2682G>C (p.Met894Ile)
n.329+3327C>G
6g.33443279G>TCA363628180SYNGAP1,SYNGAP1-AS1c.2469G>T (p.Met823Ile)
c.2727G>T (p.Met909Ile)
c.2685G>T (p.Met895Ile)
c.2550G>T (p.Met850Ile)
c.2682G>T (p.Met894Ile)
n.329+3327C>A
6g.33443280G>ACA363628183SYNGAP1,SYNGAP1-AS1c.2470G>A (p.Gly824Ser)
c.2728G>A (p.Gly910Ser)
c.2686G>A (p.Gly896Ser)
c.2551G>A (p.Gly851Ser)
c.2683G>A (p.Gly895Ser)
n.329+3326C>T
6g.33443280G>CCA363628184SYNGAP1,SYNGAP1-AS1c.2470G>C (p.Gly824Arg)
c.2728G>C (p.Gly910Arg)
c.2686G>C (p.Gly896Arg)
c.2551G>C (p.Gly851Arg)
c.2683G>C (p.Gly895Arg)
n.329+3326C>G
6g.33443280G>TCA363628185SYNGAP1,SYNGAP1-AS1c.2470G>T (p.Gly824Cys)
c.2728G>T (p.Gly910Cys)
c.2686G>T (p.Gly896Cys)
c.2551G>T (p.Gly851Cys)
c.2683G>T (p.Gly895Cys)
n.329+3326C>A
6g.33443281G>ACA363628191SYNGAP1,SYNGAP1-AS1c.2471G>A (p.Gly824Asp)
c.2729G>A (p.Gly910Asp)
c.2687G>A (p.Gly896Asp)
c.2552G>A (p.Gly851Asp)
c.2684G>A (p.Gly895Asp)
n.329+3325C>T
6g.33443281G>CCA363628190SYNGAP1,SYNGAP1-AS1c.2471G>C (p.Gly824Ala)
c.2729G>C (p.Gly910Ala)
c.2687G>C (p.Gly896Ala)
c.2552G>C (p.Gly851Ala)
c.2684G>C (p.Gly895Ala)
n.329+3325C>G
 ClinVar gnomAD v4
6g.33443281G>TCA363628188SYNGAP1,SYNGAP1-AS1c.2471G>T (p.Gly824Val)
c.2729G>T (p.Gly910Val)
c.2687G>T (p.Gly896Val)
c.2552G>T (p.Gly851Val)
c.2684G>T (p.Gly895Val)
n.329+3325C>A
 gnomAD v4
6g.33443282T>ACA450103995SYNGAP1,SYNGAP1-AS1c.2472T>A (p.Gly824=)
c.2730T>A (p.Gly910=)
c.2688T>A (p.Gly896=)
c.2553T>A (p.Gly851=)
c.2685T>A (p.Gly895=)
n.329+3324A>T
 ClinVar dbSNP
6g.33443282T>CCA450103996SYNGAP1,SYNGAP1-AS1c.2472T>C (p.Gly824=)
c.2730T>C (p.Gly910=)
c.2688T>C (p.Gly896=)
c.2553T>C (p.Gly851=)
c.2685T>C (p.Gly895=)
n.329+3324A>G
6g.33443282T>GCA450103997SYNGAP1,SYNGAP1-AS1c.2472T>G (p.Gly824=)
c.2730T>G (p.Gly910=)
c.2688T>G (p.Gly896=)
c.2553T>G (p.Gly851=)
c.2685T>G (p.Gly895=)
n.329+3324A>C
 gnomAD v4
6g.33443283G>ACA363628196SYNGAP1,SYNGAP1-AS1c.2473G>A (p.Val825Ile)
c.2731G>A (p.Val911Ile)
c.2689G>A (p.Val897Ile)
c.2554G>A (p.Val852Ile)
c.2686G>A (p.Val896Ile)
n.329+3323C>T
6g.33443283G>CCA363628193SYNGAP1,SYNGAP1-AS1c.2473G>C (p.Val825Leu)
c.2731G>C (p.Val911Leu)
c.2689G>C (p.Val897Leu)
c.2554G>C (p.Val852Leu)
c.2686G>C (p.Val896Leu)
n.329+3323C>G
6g.33443283G>TCA363628195SYNGAP1,SYNGAP1-AS1c.2473G>T (p.Val825Phe)
c.2731G>T (p.Val911Phe)
c.2689G>T (p.Val897Phe)
c.2554G>T (p.Val852Phe)
c.2686G>T (p.Val896Phe)
n.329+3323C>A
6g.33443284T>ACA363628199SYNGAP1,SYNGAP1-AS1c.2474T>A (p.Val825Asp)
c.2732T>A (p.Val911Asp)
c.2690T>A (p.Val897Asp)
c.2555T>A (p.Val852Asp)
c.2687T>A (p.Val896Asp)
n.329+3322A>T
6g.33443284T>CCA363628202SYNGAP1,SYNGAP1-AS1c.2474T>C (p.Val825Ala)
c.2732T>C (p.Val911Ala)
c.2690T>C (p.Val897Ala)
c.2555T>C (p.Val852Ala)
c.2687T>C (p.Val896Ala)
n.329+3322A>G
6g.33443284T>GCA363628205SYNGAP1,SYNGAP1-AS1c.2474T>G (p.Val825Gly)
c.2732T>G (p.Val911Gly)
c.2690T>G (p.Val897Gly)
c.2555T>G (p.Val852Gly)
c.2687T>G (p.Val896Gly)
n.329+3322A>C
6g.33443285C>ACA450103998SYNGAP1,SYNGAP1-AS1c.2475C>A (p.Val825=)
c.2733C>A (p.Val911=)
c.2691C>A (p.Val897=)
c.2556C>A (p.Val852=)
c.2688C>A (p.Val896=)
n.329+3321G>T
6g.33443285C=CA1620014573SYNGAP1,SYNGAP1-AS1c.2475C= (p.Val825=)
c.2733C= (p.Val911=)
c.2691C= (p.Val897=)
c.2556C= (p.Val852=)
c.2688C= (p.Val896=)
n.329+3321G=
6g.33443285C>GCA450103999SYNGAP1,SYNGAP1-AS1c.2475C>G (p.Val825=)
c.2733C>G (p.Val911=)
c.2691C>G (p.Val897=)
c.2556C>G (p.Val852=)
c.2688C>G (p.Val896=)
n.329+3321G>C
6g.33443285C>TCA450104000SYNGAP1,SYNGAP1-AS1c.2475C>T (p.Val825=)
c.2733C>T (p.Val911=)
c.2691C>T (p.Val897=)
c.2556C>T (p.Val852=)
c.2688C>T (p.Val896=)
n.329+3321G>A
 ClinVar dbSNP gnomAD v4
6g.33443286A>CCA363628211SYNGAP1,SYNGAP1-AS1c.2476A>C (p.Thr826Pro)
c.2734A>C (p.Thr912Pro)
c.2692A>C (p.Thr898Pro)
c.2557A>C (p.Thr853Pro)
c.2689A>C (p.Thr897Pro)
n.329+3320T>G
6g.33443286A>GCA363628209SYNGAP1,SYNGAP1-AS1c.2476A>G (p.Thr826Ala)
c.2734A>G (p.Thr912Ala)
c.2692A>G (p.Thr898Ala)
c.2557A>G (p.Thr853Ala)
c.2689A>G (p.Thr897Ala)
n.329+3320T>C
6g.33443286A>TCA363628207SYNGAP1,SYNGAP1-AS1c.2476A>T (p.Thr826Ser)
c.2734A>T (p.Thr912Ser)
c.2692A>T (p.Thr898Ser)
c.2557A>T (p.Thr853Ser)
c.2689A>T (p.Thr897Ser)
n.329+3320T>A
6g.33443287C>ACA363628212SYNGAP1,SYNGAP1-AS1c.2477C>A (p.Thr826Asn)
c.2735C>A (p.Thr912Asn)
c.2693C>A (p.Thr898Asn)
c.2558C>A (p.Thr853Asn)
c.2690C>A (p.Thr897Asn)
n.329+3319G>T
 ClinVar
6g.33443287C>GCA363628213SYNGAP1,SYNGAP1-AS1c.2477C>G (p.Thr826Ser)
c.2735C>G (p.Thr912Ser)
c.2693C>G (p.Thr898Ser)
c.2558C>G (p.Thr853Ser)
c.2690C>G (p.Thr897Ser)
n.329+3319G>C
6g.33443287C>TCA363628215SYNGAP1,SYNGAP1-AS1c.2477C>T (p.Thr826Ile)
c.2735C>T (p.Thr912Ile)
c.2693C>T (p.Thr898Ile)
c.2558C>T (p.Thr853Ile)
c.2690C>T (p.Thr897Ile)
n.329+3319G>A
 gnomAD v4
6g.33443288C>ACA450104001SYNGAP1,SYNGAP1-AS1c.2478C>A (p.Thr826=)
c.2736C>A (p.Thr912=)
c.2694C>A (p.Thr898=)
c.2559C>A (p.Thr853=)
c.2691C>A (p.Thr897=)
n.329+3318G>T
6g.33443288C=CA1620014574SYNGAP1,SYNGAP1-AS1c.2478C= (p.Thr826=)
c.2736C= (p.Thr912=)
c.2694C= (p.Thr898=)
c.2559C= (p.Thr853=)
c.2691C= (p.Thr897=)
n.329+3318G=
6g.33443288C>GCA137072978SYNGAP1,SYNGAP1-AS1c.2478C>G (p.Thr826=)
c.2736C>G (p.Thr912=)
c.2694C>G (p.Thr898=)
c.2559C>G (p.Thr853=)
c.2691C>G (p.Thr897=)
n.329+3318G>C
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.33443288C>TCA450104002SYNGAP1,SYNGAP1-AS1c.2478C>T (p.Thr826=)
c.2736C>T (p.Thr912=)
c.2694C>T (p.Thr898=)
c.2559C>T (p.Thr853=)
c.2691C>T (p.Thr897=)
n.329+3318G>A
6g.33443289A>CCA363628217SYNGAP1,SYNGAP1-AS1c.2479A>C (p.Thr827Pro)
c.2737A>C (p.Thr913Pro)
c.2695A>C (p.Thr899Pro)
c.2560A>C (p.Thr854Pro)
c.2692A>C (p.Thr898Pro)
n.329+3317T>G
6g.33443289A>GCA363628219SYNGAP1,SYNGAP1-AS1c.2479A>G (p.Thr827Ala)
c.2737A>G (p.Thr913Ala)
c.2695A>G (p.Thr899Ala)
c.2560A>G (p.Thr854Ala)
c.2692A>G (p.Thr898Ala)
n.329+3317T>C
6g.33443289A>TCA363628220SYNGAP1,SYNGAP1-AS1c.2479A>T (p.Thr827Ser)
c.2737A>T (p.Thr913Ser)
c.2695A>T (p.Thr899Ser)
c.2560A>T (p.Thr854Ser)
c.2692A>T (p.Thr898Ser)
n.329+3317T>A
6g.33443290C>ACA363628223SYNGAP1,SYNGAP1-AS1c.2480C>A (p.Thr827Lys)
c.2738C>A (p.Thr913Lys)
c.2696C>A (p.Thr899Lys)
c.2561C>A (p.Thr854Lys)
c.2693C>A (p.Thr898Lys)
n.329+3316G>T
6g.33443290C>GCA363628226SYNGAP1,SYNGAP1-AS1c.2480C>G (p.Thr827Arg)
c.2738C>G (p.Thr913Arg)
c.2696C>G (p.Thr899Arg)
c.2561C>G (p.Thr854Arg)
c.2693C>G (p.Thr898Arg)
n.329+3316G>C
6g.33443290C>TCA363628224SYNGAP1,SYNGAP1-AS1c.2480C>T (p.Thr827Ile)
c.2738C>T (p.Thr913Ile)
c.2696C>T (p.Thr899Ile)
c.2561C>T (p.Thr854Ile)
c.2693C>T (p.Thr898Ile)
n.329+3316G>A
6g.33443291A>CCA450104003SYNGAP1,SYNGAP1-AS1c.2481A>C (p.Thr827=)
c.2739A>C (p.Thr913=)
c.2697A>C (p.Thr899=)
c.2562A>C (p.Thr854=)
c.2694A>C (p.Thr898=)
n.329+3315T>G
6g.33443291A>GCA450104004SYNGAP1,SYNGAP1-AS1c.2481A>G (p.Thr827=)
c.2739A>G (p.Thr913=)
c.2697A>G (p.Thr899=)
c.2562A>G (p.Thr854=)
c.2694A>G (p.Thr898=)
n.329+3315T>C
6g.33443291A>TCA450104005SYNGAP1,SYNGAP1-AS1c.2481A>T (p.Thr827=)
c.2739A>T (p.Thr913=)
c.2697A>T (p.Thr899=)
c.2562A>T (p.Thr854=)
c.2694A>T (p.Thr898=)
n.329+3315T>A
6g.33443292G>ACA363628227SYNGAP1,SYNGAP1-AS1c.2482G>A (p.Asp828Asn)
c.2740G>A (p.Asp914Asn)
c.2698G>A (p.Asp900Asn)
c.2563G>A (p.Asp855Asn)
c.2695G>A (p.Asp899Asn)
n.329+3314C>T
6g.33443292G>CCA363628228SYNGAP1,SYNGAP1-AS1c.2482G>C (p.Asp828His)
c.2740G>C (p.Asp914His)
c.2698G>C (p.Asp900His)
c.2563G>C (p.Asp855His)
c.2695G>C (p.Asp899His)
n.329+3314C>G
6g.33443292G>TCA363628230SYNGAP1,SYNGAP1-AS1c.2482G>T (p.Asp828Tyr)
c.2740G>T (p.Asp914Tyr)
c.2698G>T (p.Asp900Tyr)
c.2563G>T (p.Asp855Tyr)
c.2695G>T (p.Asp899Tyr)
n.329+3314C>A
6g.33443293A>CCA363628231SYNGAP1,SYNGAP1-AS1c.2483A>C (p.Asp828Ala)
c.2741A>C (p.Asp914Ala)
c.2699A>C (p.Asp900Ala)
c.2564A>C (p.Asp855Ala)
c.2696A>C (p.Asp899Ala)
n.329+3313T>G
6g.33443293A>GCA363628233SYNGAP1,SYNGAP1-AS1c.2483A>G (p.Asp828Gly)
c.2741A>G (p.Asp914Gly)
c.2699A>G (p.Asp900Gly)
c.2564A>G (p.Asp855Gly)
c.2696A>G (p.Asp899Gly)
n.329+3313T>C
6g.33443293A>TCA363628235SYNGAP1,SYNGAP1-AS1c.2483A>T (p.Asp828Val)
c.2741A>T (p.Asp914Val)
c.2699A>T (p.Asp900Val)
c.2564A>T (p.Asp855Val)
c.2696A>T (p.Asp899Val)
n.329+3313T>A
 ClinVar
6g.33443294C>ACA363628236SYNGAP1,SYNGAP1-AS1c.2484C>A (p.Asp828Glu)
c.2742C>A (p.Asp914Glu)
c.2700C>A (p.Asp900Glu)
c.2565C>A (p.Asp855Glu)
c.2697C>A (p.Asp899Glu)
n.329+3312G>T
 gnomAD v4
6g.33443294C=CA1620014575SYNGAP1,SYNGAP1-AS1c.2484C= (p.Asp828=)
c.2742C= (p.Asp914=)
c.2700C= (p.Asp900=)
c.2565C= (p.Asp855=)
c.2697C= (p.Asp899=)
n.329+3312G=
6g.33443294C>GCA363628237SYNGAP1,SYNGAP1-AS1c.2484C>G (p.Asp828Glu)
c.2742C>G (p.Asp914Glu)
c.2700C>G (p.Asp900Glu)
c.2565C>G (p.Asp855Glu)
c.2697C>G (p.Asp899Glu)
n.329+3312G>C
6g.33443294C>TCA3758944SYNGAP1,SYNGAP1-AS1c.2484C>T (p.Asp828=)
c.2742C>T (p.Asp914=)
c.2700C>T (p.Asp900=)
c.2565C>T (p.Asp855=)
c.2697C>T (p.Asp899=)
n.329+3312G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.33443295G>ACA3758945SYNGAP1,SYNGAP1-AS1c.2485G>A (p.Gly829Ser)
c.2743G>A (p.Gly915Ser)
c.2701G>A (p.Gly901Ser)
c.2566G>A (p.Gly856Ser)
c.2698G>A (p.Gly900Ser)
n.329+3311C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
6g.33443295G>CCA363628238SYNGAP1,SYNGAP1-AS1c.2485G>C (p.Gly829Arg)
c.2743G>C (p.Gly915Arg)
c.2701G>C (p.Gly901Arg)
c.2566G>C (p.Gly856Arg)
c.2698G>C (p.Gly900Arg)
n.329+3311C>G
6g.33443295G=CA1620014576SYNGAP1,SYNGAP1-AS1c.2485G= (p.Gly829=)
c.2743G= (p.Gly915=)
c.2701G= (p.Gly901=)
c.2566G= (p.Gly856=)
c.2698G= (p.Gly900=)
n.329+3311C=
6g.33443295G>TCA363628239SYNGAP1,SYNGAP1-AS1c.2485G>T (p.Gly829Cys)
c.2743G>T (p.Gly915Cys)
c.2701G>T (p.Gly901Cys)
c.2566G>T (p.Gly856Cys)
c.2698G>T (p.Gly900Cys)
n.329+3311C>A
 gnomAD v4
6g.33443296G>ACA137072991SYNGAP1,SYNGAP1-AS1c.2486G>A (p.Gly829Asp)
c.2744G>A (p.Gly915Asp)
c.2702G>A (p.Gly901Asp)
c.2567G>A (p.Gly856Asp)
c.2699G>A (p.Gly900Asp)
n.329+3310C>T
 dbSNP
6g.33443296G>CCA363628248SYNGAP1,SYNGAP1-AS1c.2486G>C (p.Gly829Ala)
c.2744G>C (p.Gly915Ala)
c.2702G>C (p.Gly901Ala)
c.2567G>C (p.Gly856Ala)
c.2699G>C (p.Gly900Ala)
n.329+3310C>G
6g.33443296G=CA1620014577SYNGAP1,SYNGAP1-AS1c.2486G= (p.Gly829=)
c.2744G= (p.Gly915=)
c.2702G= (p.Gly901=)
c.2567G= (p.Gly856=)
c.2699G= (p.Gly900=)
n.329+3310C=
6g.33443296G>TCA363628245SYNGAP1,SYNGAP1-AS1c.2486G>T (p.Gly829Val)
c.2744G>T (p.Gly915Val)
c.2702G>T (p.Gly901Val)
c.2567G>T (p.Gly856Val)
c.2699G>T (p.Gly900Val)
n.329+3310C>A
 gnomAD v4
6g.33443297T>ACA450104006SYNGAP1,SYNGAP1-AS1c.2487T>A (p.Gly829=)
c.2745T>A (p.Gly915=)
c.2703T>A (p.Gly901=)
c.2568T>A (p.Gly856=)
c.2700T>A (p.Gly900=)
n.329+3309A>T
6g.33443297T>CCA450104007SYNGAP1,SYNGAP1-AS1c.2487T>C (p.Gly829=)
c.2745T>C (p.Gly915=)
c.2703T>C (p.Gly901=)
c.2568T>C (p.Gly856=)
c.2700T>C (p.Gly900=)
n.329+3309A>G
 dbSNP gnomAD v2 gnomAD v4
6g.33443297T>GCA450104008SYNGAP1,SYNGAP1-AS1c.2487T>G (p.Gly829=)
c.2745T>G (p.Gly915=)
c.2703T>G (p.Gly901=)
c.2568T>G (p.Gly856=)
c.2700T>G (p.Gly900=)
n.329+3309A>C
6g.33443297T=CA1620014578SYNGAP1,SYNGAP1-AS1c.2487T= (p.Gly829=)
c.2745T= (p.Gly915=)
c.2703T= (p.Gly901=)
c.2568T= (p.Gly856=)
c.2700T= (p.Gly900=)
n.329+3309A=
6g.33443298G>ACA363628253SYNGAP1,SYNGAP1-AS1c.2488G>A (p.Val830Ile)
c.2746G>A (p.Val916Ile)
c.2704G>A (p.Val902Ile)
c.2569G>A (p.Val857Ile)
c.2701G>A (p.Val901Ile)
n.329+3308C>T
 dbSNP gnomAD v2 gnomAD v4
6g.33443298G>CCA363628257SYNGAP1,SYNGAP1-AS1c.2488G>C (p.Val830Leu)
c.2746G>C (p.Val916Leu)
c.2704G>C (p.Val902Leu)
c.2569G>C (p.Val857Leu)
c.2701G>C (p.Val901Leu)
n.329+3308C>G
6g.33443298G=CA1620014579SYNGAP1,SYNGAP1-AS1c.2488G= (p.Val830=)
c.2746G= (p.Val916=)
c.2704G= (p.Val902=)
c.2569G= (p.Val857=)
c.2701G= (p.Val901=)
n.329+3308C=
6g.33443298G>TCA363628255SYNGAP1,SYNGAP1-AS1c.2488G>T (p.Val830Phe)
c.2746G>T (p.Val916Phe)
c.2704G>T (p.Val902Phe)
c.2569G>T (p.Val857Phe)
c.2701G>T (p.Val901Phe)
n.329+3308C>A
6g.33443299T>ACA363628261SYNGAP1,SYNGAP1-AS1c.2489T>A (p.Val830Asp)
c.2747T>A (p.Val916Asp)
c.2705T>A (p.Val902Asp)
c.2570T>A (p.Val857Asp)
c.2702T>A (p.Val901Asp)
n.329+3307A>T
6g.33443299T>CCA363628262SYNGAP1,SYNGAP1-AS1c.2489T>C (p.Val830Ala)
c.2747T>C (p.Val916Ala)
c.2705T>C (p.Val902Ala)
c.2570T>C (p.Val857Ala)
c.2702T>C (p.Val901Ala)
n.329+3307A>G
6g.33443299T>GCA363628264SYNGAP1,SYNGAP1-AS1c.2489T>G (p.Val830Gly)
c.2747T>G (p.Val916Gly)
c.2705T>G (p.Val902Gly)
c.2570T>G (p.Val857Gly)
c.2702T>G (p.Val901Gly)
n.329+3307A>C
6g.33443300C>ACA450104011SYNGAP1,SYNGAP1-AS1c.2490C>A (p.Val830=)
c.2748C>A (p.Val916=)
c.2706C>A (p.Val902=)
c.2571C>A (p.Val857=)
c.2703C>A (p.Val901=)
n.329+3306G>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.33443300C=CA1620014580SYNGAP1,SYNGAP1-AS1c.2490C= (p.Val830=)
c.2748C= (p.Val916=)
c.2706C= (p.Val902=)
c.2571C= (p.Val857=)
c.2703C= (p.Val901=)
n.329+3306G=
6g.33443300C>GCA450104010SYNGAP1,SYNGAP1-AS1c.2490C>G (p.Val830=)
c.2748C>G (p.Val916=)
c.2706C>G (p.Val902=)
c.2571C>G (p.Val857=)
c.2703C>G (p.Val901=)
n.329+3306G>C
6g.33443300C>TCA450104009SYNGAP1,SYNGAP1-AS1c.2490C>T (p.Val830=)
c.2748C>T (p.Val916=)
c.2706C>T (p.Val902=)
c.2571C>T (p.Val857=)
c.2703C>T (p.Val901=)
n.329+3306G>A
6g.33443301C>ACA363628266SYNGAP1,SYNGAP1-AS1c.2491C>A (p.Pro831Thr)
c.2749C>A (p.Pro917Thr)
c.2707C>A (p.Pro903Thr)
c.2572C>A (p.Pro858Thr)
c.2704C>A (p.Pro902Thr)
n.329+3305G>T
6g.33443301C=CA1620014581SYNGAP1,SYNGAP1-AS1c.2491C= (p.Pro831=)
c.2749C= (p.Pro917=)
c.2707C= (p.Pro903=)
c.2572C= (p.Pro858=)
c.2704C= (p.Pro902=)
n.329+3305G=
6g.33443301C>GCA363628267SYNGAP1,SYNGAP1-AS1c.2491C>G (p.Pro831Ala)
c.2749C>G (p.Pro917Ala)
c.2707C>G (p.Pro903Ala)
c.2572C>G (p.Pro858Ala)
c.2704C>G (p.Pro902Ala)
n.329+3305G>C
 gnomAD v4
6g.33443301C>TCA363628268SYNGAP1,SYNGAP1-AS1c.2491C>T (p.Pro831Ser)
c.2749C>T (p.Pro917Ser)
c.2707C>T (p.Pro903Ser)
c.2572C>T (p.Pro858Ser)
c.2704C>T (p.Pro902Ser)
n.329+3305G>A
 dbSNP gnomAD v3 gnomAD v4
6g.33443302C>ACA363628269SYNGAP1,SYNGAP1-AS1c.2492C>A (p.Pro831His)
c.2750C>A (p.Pro917His)
c.2708C>A (p.Pro903His)
c.2573C>A (p.Pro858His)
c.2705C>A (p.Pro902His)
n.329+3304G>T
6g.33443302C=CA1620014582SYNGAP1,SYNGAP1-AS1c.2492C= (p.Pro831=)
c.2750C= (p.Pro917=)
c.2708C= (p.Pro903=)
c.2573C= (p.Pro858=)
c.2705C= (p.Pro902=)
n.329+3304G=
6g.33443302C>GCA137073001SYNGAP1,SYNGAP1-AS1c.2492C>G (p.Pro831Arg)
c.2750C>G (p.Pro917Arg)
c.2708C>G (p.Pro903Arg)
c.2573C>G (p.Pro858Arg)
c.2705C>G (p.Pro902Arg)
n.329+3304G>C
 dbSNP gnomAD v3 gnomAD v4
6g.33443302C>TCA363628271SYNGAP1,SYNGAP1-AS1c.2492C>T (p.Pro831Leu)
c.2750C>T (p.Pro917Leu)
c.2708C>T (p.Pro903Leu)
c.2573C>T (p.Pro858Leu)
c.2705C>T (p.Pro902Leu)
n.329+3304G>A
6g.33443303T>ACA450104012SYNGAP1,SYNGAP1-AS1c.2493T>A (p.Pro831=)
c.2751T>A (p.Pro917=)
c.2709T>A (p.Pro903=)
c.2574T>A (p.Pro858=)
c.2706T>A (p.Pro902=)
n.329+3303A>T
6g.33443303T>CCA450104013SYNGAP1,SYNGAP1-AS1c.2493T>C (p.Pro831=)
c.2751T>C (p.Pro917=)
c.2709T>C (p.Pro903=)
c.2574T>C (p.Pro858=)
c.2706T>C (p.Pro902=)
n.329+3303A>G
 gnomAD v4
6g.33443303T>GCA450104014SYNGAP1,SYNGAP1-AS1c.2493T>G (p.Pro831=)
c.2751T>G (p.Pro917=)
c.2709T>G (p.Pro903=)
c.2574T>G (p.Pro858=)
c.2706T>G (p.Pro902=)
n.329+3303A>C
6g.33443304G>ACA363628273SYNGAP1,SYNGAP1-AS1c.2494G>A (p.Ala832Thr)
c.2752G>A (p.Ala918Thr)
c.2710G>A (p.Ala904Thr)
c.2575G>A (p.Ala859Thr)
c.2707G>A (p.Ala903Thr)
n.329+3302C>T
 gnomAD v4
6g.33443304G>CCA363628275SYNGAP1,SYNGAP1-AS1c.2494G>C (p.Ala832Pro)
c.2752G>C (p.Ala918Pro)
c.2710G>C (p.Ala904Pro)
c.2575G>C (p.Ala859Pro)
c.2707G>C (p.Ala903Pro)
n.329+3302C>G
6g.33443304G>TCA363628277SYNGAP1,SYNGAP1-AS1c.2494G>T (p.Ala832Ser)
c.2752G>T (p.Ala918Ser)
c.2710G>T (p.Ala904Ser)
c.2575G>T (p.Ala859Ser)
c.2707G>T (p.Ala903Ser)
n.329+3302C>A
6g.33443305C>ACA363628280SYNGAP1,SYNGAP1-AS1c.2495C>A (p.Ala832Asp)
c.2753C>A (p.Ala918Asp)
c.2711C>A (p.Ala904Asp)
c.2576C>A (p.Ala859Asp)
c.2708C>A (p.Ala903Asp)
n.329+3301G>T
6g.33443305C>GCA363628285SYNGAP1,SYNGAP1-AS1c.2495C>G (p.Ala832Gly)
c.2753C>G (p.Ala918Gly)
c.2711C>G (p.Ala904Gly)
c.2576C>G (p.Ala859Gly)
c.2708C>G (p.Ala903Gly)
n.329+3301G>C
6g.33443305C>TCA363628283SYNGAP1,SYNGAP1-AS1c.2495C>T (p.Ala832Val)
c.2753C>T (p.Ala918Val)
c.2711C>T (p.Ala904Val)
c.2576C>T (p.Ala859Val)
c.2708C>T (p.Ala903Val)
n.329+3301G>A
 ClinVar dbSNP gnomAD v4
6g.33443306C>ACA450104015SYNGAP1,SYNGAP1-AS1c.2496C>A (p.Ala832=)
c.2754C>A (p.Ala918=)
c.2712C>A (p.Ala904=)
c.2577C>A (p.Ala859=)
c.2709C>A (p.Ala903=)
n.329+3300G>T
6g.33443306C>GCA450104017SYNGAP1,SYNGAP1-AS1c.2496C>G (p.Ala832=)
c.2754C>G (p.Ala918=)
c.2712C>G (p.Ala904=)
c.2577C>G (p.Ala859=)
c.2709C>G (p.Ala903=)
n.329+3300G>C
6g.33443306C>TCA450104016SYNGAP1,SYNGAP1-AS1c.2496C>T (p.Ala832=)
c.2754C>T (p.Ala918=)
c.2712C>T (p.Ala904=)
c.2577C>T (p.Ala859=)
c.2709C>T (p.Ala903=)
n.329+3300G>A
6g.33443307C>ACA363628288SYNGAP1,SYNGAP1-AS1c.2497C>A (p.Gln833Lys)
c.2755C>A (p.Gln919Lys)
c.2713C>A (p.Gln905Lys)
c.2578C>A (p.Gln860Lys)
c.2710C>A (p.Gln904Lys)
n.329+3299G>T
6g.33443307C=CA1620014583SYNGAP1,SYNGAP1-AS1c.2497C= (p.Gln833=)
c.2755C= (p.Gln919=)
c.2713C= (p.Gln905=)
c.2578C= (p.Gln860=)
c.2710C= (p.Gln904=)
n.329+3299G=
6g.33443307C>GCA363628291SYNGAP1,SYNGAP1-AS1c.2497C>G (p.Gln833Glu)
c.2755C>G (p.Gln919Glu)
c.2713C>G (p.Gln905Glu)
c.2578C>G (p.Gln860Glu)
c.2710C>G (p.Gln904Glu)
n.329+3299G>C
6g.33443307C>TCA363628294SYNGAP1,SYNGAP1-AS1c.2497C>T (p.Gln833Ter)
c.2755C>T (p.Gln919Ter)
c.2713C>T (p.Gln905Ter)
c.2578C>T (p.Gln860Ter)
c.2710C>T (p.Gln904Ter)
n.329+3299G>A
 ClinVar dbSNP
6g.33443308A=CA1620014584SYNGAP1,SYNGAP1-AS1c.2498A= (p.Gln833=)
c.2756A= (p.Gln919=)
c.2714A= (p.Gln905=)
c.2579A= (p.Gln860=)
c.2711A= (p.Gln904=)
n.329+3298T=
6g.33443308A>CCA363628296SYNGAP1,SYNGAP1-AS1c.2498A>C (p.Gln833Pro)
c.2756A>C (p.Gln919Pro)
c.2714A>C (p.Gln905Pro)
c.2579A>C (p.Gln860Pro)
c.2711A>C (p.Gln904Pro)
n.329+3298T>G
6g.33443308A>GCA363628299SYNGAP1,SYNGAP1-AS1c.2498A>G (p.Gln833Arg)
c.2756A>G (p.Gln919Arg)
c.2714A>G (p.Gln905Arg)
c.2579A>G (p.Gln860Arg)
c.2711A>G (p.Gln904Arg)
n.329+3298T>C
 COSMIC COSMIC
6g.33443308A>TCA363628302SYNGAP1,SYNGAP1-AS1c.2498A>T (p.Gln833Leu)
c.2756A>T (p.Gln919Leu)
c.2714A>T (p.Gln905Leu)
c.2579A>T (p.Gln860Leu)
c.2711A>T (p.Gln904Leu)
n.329+3298T>A
 dbSNP gnomAD v2 gnomAD v4
6g.33443309G>ACA137073010SYNGAP1,SYNGAP1-AS1c.2499G>A (p.Gln833=)
c.2757G>A (p.Gln919=)
c.2715G>A (p.Gln905=)
c.2580G>A (p.Gln860=)
c.2712G>A (p.Gln904=)
n.329+3297C>T
 dbSNP
6g.33443309G>CCA363628310SYNGAP1,SYNGAP1-AS1c.2499G>C (p.Gln833His)
c.2757G>C (p.Gln919His)
c.2715G>C (p.Gln905His)
c.2580G>C (p.Gln860His)
c.2712G>C (p.Gln904His)
n.329+3297C>G
6g.33443309G=CA1620014585SYNGAP1,SYNGAP1-AS1c.2499G= (p.Gln833=)
c.2757G= (p.Gln919=)
c.2715G= (p.Gln905=)
c.2580G= (p.Gln860=)
c.2712G= (p.Gln904=)
n.329+3297C=
6g.33443309G>TCA363628314SYNGAP1,SYNGAP1-AS1c.2499G>T (p.Gln833His)
c.2757G>T (p.Gln919His)
c.2715G>T (p.Gln905His)
c.2580G>T (p.Gln860His)
c.2712G>T (p.Gln904His)
n.329+3297C>A
6g.33443310C>ACA363628318SYNGAP1,SYNGAP1-AS1c.2500C>A (p.Gln834Lys)
c.2758C>A (p.Gln920Lys)
c.2716C>A (p.Gln906Lys)
c.2581C>A (p.Gln861Lys)
c.2713C>A (p.Gln905Lys)
n.329+3296G>T
6g.33443310C=CA1620014586SYNGAP1,SYNGAP1-AS1c.2500C= (p.Gln834=)
c.2758C= (p.Gln920=)
c.2716C= (p.Gln906=)
c.2581C= (p.Gln861=)
c.2713C= (p.Gln905=)
n.329+3296G=
6g.33443310C>GCA363628320SYNGAP1,SYNGAP1-AS1c.2500C>G (p.Gln834Glu)
c.2758C>G (p.Gln920Glu)
c.2716C>G (p.Gln906Glu)
c.2581C>G (p.Gln861Glu)
c.2713C>G (p.Gln905Glu)
n.329+3296G>C
6g.33443310C>TCA363628317SYNGAP1,SYNGAP1-AS1c.2500C>T (p.Gln834Ter)
c.2758C>T (p.Gln920Ter)
c.2716C>T (p.Gln906Ter)
c.2581C>T (p.Gln861Ter)
c.2713C>T (p.Gln905Ter)
n.329+3296G>A
 ClinVar dbSNP
6g.33443311A>CCA363628322SYNGAP1,SYNGAP1-AS1c.2501A>C (p.Gln834Pro)
c.2759A>C (p.Gln920Pro)
c.2717A>C (p.Gln906Pro)
c.2582A>C (p.Gln861Pro)
c.2714A>C (p.Gln905Pro)
n.329+3295T>G
6g.33443311A>GCA363628325SYNGAP1,SYNGAP1-AS1c.2501A>G (p.Gln834Arg)
c.2759A>G (p.Gln920Arg)
c.2717A>G (p.Gln906Arg)
c.2582A>G (p.Gln861Arg)
c.2714A>G (p.Gln905Arg)
n.329+3295T>C
6g.33443311A>TCA363628338SYNGAP1,SYNGAP1-AS1c.2501A>T (p.Gln834Leu)
c.2759A>T (p.Gln920Leu)
c.2717A>T (p.Gln906Leu)
c.2582A>T (p.Gln861Leu)
c.2714A>T (p.Gln905Leu)
n.329+3295T>A
6g.33443312A=CA1620014587SYNGAP1,SYNGAP1-AS1c.2502A= (p.Gln834=)
c.2760A= (p.Gln920=)
c.2718A= (p.Gln906=)
c.2583A= (p.Gln861=)
c.2715A= (p.Gln905=)
n.329+3294T=
6g.33443312A>CCA363628343SYNGAP1,SYNGAP1-AS1c.2502A>C (p.Gln834His)
c.2760A>C (p.Gln920His)
c.2718A>C (p.Gln906His)
c.2583A>C (p.Gln861His)
c.2715A>C (p.Gln905His)
n.329+3294T>G
6g.33443312A>GCA450104018SYNGAP1,SYNGAP1-AS1c.2502A>G (p.Gln834=)
c.2760A>G (p.Gln920=)
c.2718A>G (p.Gln906=)
c.2583A>G (p.Gln861=)
c.2715A>G (p.Gln905=)
n.329+3294T>C
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.33443312A>TCA363628346SYNGAP1,SYNGAP1-AS1c.2502A>T (p.Gln834His)
c.2760A>T (p.Gln920His)
c.2718A>T (p.Gln906His)
c.2583A>T (p.Gln861His)
c.2715A>T (p.Gln905His)
n.329+3294T>A
6g.33443313C>ACA363628352SYNGAP1,SYNGAP1-AS1c.2503C>A (p.Leu835Met)
c.2761C>A (p.Leu921Met)
c.2719C>A (p.Leu907Met)
c.2584C>A (p.Leu862Met)
c.2716C>A (p.Leu906Met)
n.329+3293G>T
6g.33443313C>GCA363628354SYNGAP1,SYNGAP1-AS1c.2503C>G (p.Leu835Val)
c.2761C>G (p.Leu921Val)
c.2719C>G (p.Leu907Val)
c.2584C>G (p.Leu862Val)
c.2716C>G (p.Leu906Val)
n.329+3293G>C
6g.33443313C>TCA450104019SYNGAP1,SYNGAP1-AS1c.2503C>T (p.Leu835=)
c.2761C>T (p.Leu921=)
c.2719C>T (p.Leu907=)
c.2584C>T (p.Leu862=)
c.2716C>T (p.Leu906=)
n.329+3293G>A
6g.33443314T>ACA363628362SYNGAP1,SYNGAP1-AS1c.2504T>A (p.Leu835Gln)
c.2762T>A (p.Leu921Gln)
c.2720T>A (p.Leu907Gln)
c.2585T>A (p.Leu862Gln)
c.2717T>A (p.Leu906Gln)
n.329+3292A>T
6g.33443314T>CCA363628364SYNGAP1,SYNGAP1-AS1c.2504T>C (p.Leu835Pro)
c.2762T>C (p.Leu921Pro)
c.2720T>C (p.Leu907Pro)
c.2585T>C (p.Leu862Pro)
c.2717T>C (p.Leu906Pro)
n.329+3292A>G
 dbSNP gnomAD v4
6g.33443314T>GCA363628366SYNGAP1,SYNGAP1-AS1c.2504T>G (p.Leu835Arg)
c.2762T>G (p.Leu921Arg)
c.2720T>G (p.Leu907Arg)
c.2585T>G (p.Leu862Arg)
c.2717T>G (p.Leu906Arg)
n.329+3292A>C
6g.33443314T=CA1620014588SYNGAP1,SYNGAP1-AS1c.2504T= (p.Leu835=)
c.2762T= (p.Leu921=)
c.2720T= (p.Leu907=)
c.2585T= (p.Leu862=)
c.2717T= (p.Leu906=)
n.329+3292A=
6g.33443315G>ACA450104020SYNGAP1,SYNGAP1-AS1c.2505G>A (p.Leu835=)
c.2763G>A (p.Leu921=)
c.2721G>A (p.Leu907=)
c.2586G>A (p.Leu862=)
c.2718G>A (p.Leu906=)
n.329+3291C>T
6g.33443315G>CCA450104021SYNGAP1,SYNGAP1-AS1c.2505G>C (p.Leu835=)
c.2763G>C (p.Leu921=)
c.2721G>C (p.Leu907=)
c.2586G>C (p.Leu862=)
c.2718G>C (p.Leu906=)
n.329+3291C>G
6g.33443315G>TCA450104022SYNGAP1,SYNGAP1-AS1c.2505G>T (p.Leu835=)
c.2763G>T (p.Leu921=)
c.2721G>T (p.Leu907=)
c.2586G>T (p.Leu862=)
c.2718G>T (p.Leu906=)
n.329+3291C>A
 ClinVar
6g.33443316C>ACA450104023SYNGAP1,SYNGAP1-AS1c.2506C>A (p.Arg836=)
c.2764C>A (p.Arg922=)
c.2722C>A (p.Arg908=)
c.2587C>A (p.Arg863=)
c.2719C>A (p.Arg907=)
n.329+3290G>T
 gnomAD v4
6g.33443316C=CA1620014589SYNGAP1,SYNGAP1-AS1c.2506C= (p.Arg836=)
c.2764C= (p.Arg922=)
c.2722C= (p.Arg908=)
c.2587C= (p.Arg863=)
c.2719C= (p.Arg907=)
n.329+3290G=
6g.33443316C>GCA363628370SYNGAP1,SYNGAP1-AS1c.2506C>G (p.Arg836Gly)
c.2764C>G (p.Arg922Gly)
c.2722C>G (p.Arg908Gly)
c.2587C>G (p.Arg863Gly)
c.2719C>G (p.Arg907Gly)
n.329+3290G>C
6g.33443316C>TCA363628374SYNGAP1,SYNGAP1-AS1c.2506C>T (p.Arg836Ter)
c.2764C>T (p.Arg922Ter)
c.2722C>T (p.Arg908Ter)
c.2587C>T (p.Arg863Ter)
c.2719C>T (p.Arg907Ter)
n.329+3290G>A
 ClinVar dbSNP
6g.33443317G>ACA3758946SYNGAP1,SYNGAP1-AS1c.2507G>A (p.Arg836Gln)
c.2765G>A (p.Arg922Gln)
c.2723G>A (p.Arg908Gln)
c.2588G>A (p.Arg863Gln)
c.2720G>A (p.Arg907Gln)
n.329+3289C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.33443317G>CCA363628377SYNGAP1,SYNGAP1-AS1c.2507G>C (p.Arg836Pro)
c.2765G>C (p.Arg922Pro)
c.2723G>C (p.Arg908Pro)
c.2588G>C (p.Arg863Pro)
c.2720G>C (p.Arg907Pro)
n.329+3289C>G
6g.33443317G=CA1620014590SYNGAP1,SYNGAP1-AS1c.2507G= (p.Arg836=)
c.2765G= (p.Arg922=)
c.2723G= (p.Arg908=)
c.2588G= (p.Arg863=)
c.2720G= (p.Arg907=)
n.329+3289C=
6g.33443317G>TCA363628376SYNGAP1,SYNGAP1-AS1c.2507G>T (p.Arg836Leu)
c.2765G>T (p.Arg922Leu)
c.2723G>T (p.Arg908Leu)
c.2588G>T (p.Arg863Leu)
c.2720G>T (p.Arg907Leu)
n.329+3289C>A
6g.33443318A>CCA450104024SYNGAP1,SYNGAP1-AS1c.2508A>C (p.Arg836=)
c.2766A>C (p.Arg922=)
c.2724A>C (p.Arg908=)
c.2589A>C (p.Arg863=)
c.2721A>C (p.Arg907=)
n.329+3288T>G
6g.33443318A>GCA450104025SYNGAP1,SYNGAP1-AS1c.2508A>G (p.Arg836=)
c.2766A>G (p.Arg922=)
c.2724A>G (p.Arg908=)
c.2589A>G (p.Arg863=)
c.2721A>G (p.Arg907=)
n.329+3288T>C
6g.33443318A>TCA450104026SYNGAP1,SYNGAP1-AS1c.2508A>T (p.Arg836=)
c.2766A>T (p.Arg922=)
c.2724A>T (p.Arg908=)
c.2589A>T (p.Arg863=)
c.2721A>T (p.Arg907=)
n.329+3288T>A
6g.33443319A>CCA363628378SYNGAP1,SYNGAP1-AS1c.2509A>C (p.Ile837Leu)
c.2767A>C (p.Ile923Leu)
c.2725A>C (p.Ile909Leu)
c.2590A>C (p.Ile864Leu)
c.2722A>C (p.Ile908Leu)
n.329+3287T>G
6g.33443319A>GCA363628379SYNGAP1,SYNGAP1-AS1c.2509A>G (p.Ile837Val)
c.2767A>G (p.Ile923Val)
c.2725A>G (p.Ile909Val)
c.2590A>G (p.Ile864Val)
c.2722A>G (p.Ile908Val)
n.329+3287T>C
 gnomAD v4
6g.33443319A>TCA363628381SYNGAP1,SYNGAP1-AS1c.2509A>T (p.Ile837Phe)
c.2767A>T (p.Ile923Phe)
c.2725A>T (p.Ile909Phe)
c.2590A>T (p.Ile864Phe)
c.2722A>T (p.Ile908Phe)
n.329+3287T>A
6g.33443320T>ACA363628383SYNGAP1,SYNGAP1-AS1c.2510T>A (p.Ile837Asn)
c.2768T>A (p.Ile923Asn)
c.2726T>A (p.Ile909Asn)
c.2591T>A (p.Ile864Asn)
c.2723T>A (p.Ile908Asn)
n.329+3286A>T
 ClinVar dbSNP
6g.33443320T>CCA363628385SYNGAP1,SYNGAP1-AS1c.2510T>C (p.Ile837Thr)
c.2768T>C (p.Ile923Thr)
c.2726T>C (p.Ile909Thr)
c.2591T>C (p.Ile864Thr)
c.2723T>C (p.Ile908Thr)
n.329+3286A>G
6g.33443320T>GCA363628388SYNGAP1,SYNGAP1-AS1c.2510T>G (p.Ile837Ser)
c.2768T>G (p.Ile923Ser)
c.2726T>G (p.Ile909Ser)
c.2591T>G (p.Ile864Ser)
c.2723T>G (p.Ile908Ser)
n.329+3286A>C
6g.33443320T=CA1620014591SYNGAP1,SYNGAP1-AS1c.2510T= (p.Ile837=)
c.2768T= (p.Ile923=)
c.2726T= (p.Ile909=)
c.2591T= (p.Ile864=)
c.2723T= (p.Ile908=)
n.329+3286A=
6g.33443321C>ACA3758947SYNGAP1,SYNGAP1-AS1c.2511C>A (p.Ile837=)
c.2769C>A (p.Ile923=)
c.2727C>A (p.Ile909=)
c.2592C>A (p.Ile864=)
c.2724C>A (p.Ile908=)
n.329+3285G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.33443321C=CA1620014592SYNGAP1,SYNGAP1-AS1c.2511C= (p.Ile837=)
c.2769C= (p.Ile923=)
c.2727C= (p.Ile909=)
c.2592C= (p.Ile864=)
c.2724C= (p.Ile908=)
n.329+3285G=
6g.33443321C>GCA363628399SYNGAP1,SYNGAP1-AS1c.2511C>G (p.Ile837Met)
c.2769C>G (p.Ile923Met)
c.2727C>G (p.Ile909Met)
c.2592C>G (p.Ile864Met)
c.2724C>G (p.Ile908Met)
n.329+3285G>C
6g.33443321C>TCA450104027SYNGAP1,SYNGAP1-AS1c.2511C>T (p.Ile837=)
c.2769C>T (p.Ile923=)
c.2727C>T (p.Ile909=)
c.2592C>T (p.Ile864=)
c.2724C>T (p.Ile908=)
n.329+3285G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.33443322C>ACA363628402SYNGAP1,SYNGAP1-AS1c.2512C>A (p.Pro838Thr)
c.2770C>A (p.Pro924Thr)
c.2728C>A (p.Pro910Thr)
c.2593C>A (p.Pro865Thr)
c.2725C>A (p.Pro909Thr)
n.329+3284G>T
6g.33443322C>GCA363628406SYNGAP1,SYNGAP1-AS1c.2512C>G (p.Pro838Ala)
c.2770C>G (p.Pro924Ala)
c.2728C>G (p.Pro910Ala)
c.2593C>G (p.Pro865Ala)
c.2725C>G (p.Pro909Ala)
n.329+3284G>C
6g.33443322C>TCA363628408SYNGAP1,SYNGAP1-AS1c.2512C>T (p.Pro838Ser)
c.2770C>T (p.Pro924Ser)
c.2728C>T (p.Pro910Ser)
c.2593C>T (p.Pro865Ser)
c.2725C>T (p.Pro909Ser)
n.329+3284G>A
6g.33443323C>ACA363628412SYNGAP1,SYNGAP1-AS1c.2513C>A (p.Pro838His)
c.2771C>A (p.Pro924His)
c.2729C>A (p.Pro910His)
c.2594C>A (p.Pro865His)
c.2726C>A (p.Pro909His)
n.329+3283G>T
6g.33443323C>GCA363628424SYNGAP1,SYNGAP1-AS1c.2513C>G (p.Pro838Arg)
c.2771C>G (p.Pro924Arg)
c.2729C>G (p.Pro910Arg)
c.2594C>G (p.Pro865Arg)
c.2726C>G (p.Pro909Arg)
n.329+3283G>C
6g.33443323C>TCA363628427SYNGAP1,SYNGAP1-AS1c.2513C>T (p.Pro838Leu)
c.2771C>T (p.Pro924Leu)
c.2729C>T (p.Pro910Leu)
c.2594C>T (p.Pro865Leu)
c.2726C>T (p.Pro909Leu)
n.329+3283G>A
6g.33443324C>ACA450104028SYNGAP1,SYNGAP1-AS1c.2514C>A (p.Pro838=)
c.2772C>A (p.Pro924=)
c.2730C>A (p.Pro910=)
c.2595C>A (p.Pro865=)
c.2727C>A (p.Pro909=)
n.329+3282G>T
6g.33443324C=CA1620014593SYNGAP1,SYNGAP1-AS1c.2514C= (p.Pro838=)
c.2772C= (p.Pro924=)
c.2730C= (p.Pro910=)
c.2595C= (p.Pro865=)
c.2727C= (p.Pro909=)
n.329+3282G=
6g.33443324C>GCA450104029SYNGAP1,SYNGAP1-AS1c.2514C>G (p.Pro838=)
c.2772C>G (p.Pro924=)
c.2730C>G (p.Pro910=)
c.2595C>G (p.Pro865=)
c.2727C>G (p.Pro909=)
n.329+3282G>C
6g.33443324C>TCA450104030SYNGAP1,SYNGAP1-AS1c.2514C>T (p.Pro838=)
c.2772C>T (p.Pro924=)
c.2730C>T (p.Pro910=)
c.2595C>T (p.Pro865=)
c.2727C>T (p.Pro909=)
n.329+3282G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.33443325C>ACA363628432SYNGAP1,SYNGAP1-AS1c.2515C>A (p.Leu839Ile)
c.2773C>A (p.Leu925Ile)
c.2731C>A (p.Leu911Ile)
c.2596C>A (p.Leu866Ile)
c.2728C>A (p.Leu910Ile)
n.329+3281G>T
6g.33443325C=CA1620014594SYNGAP1,SYNGAP1-AS1c.2515C= (p.Leu839=)
c.2773C= (p.Leu925=)
c.2731C= (p.Leu911=)
c.2596C= (p.Leu866=)
c.2728C= (p.Leu910=)
n.329+3281G=
6g.33443325C>GCA363628436SYNGAP1,SYNGAP1-AS1c.2515C>G (p.Leu839Val)
c.2773C>G (p.Leu925Val)
c.2731C>G (p.Leu911Val)
c.2596C>G (p.Leu866Val)
c.2728C>G (p.Leu910Val)
n.329+3281G>C
6g.33443325C>TCA363628429SYNGAP1,SYNGAP1-AS1c.2515C>T (p.Leu839Phe)
c.2773C>T (p.Leu925Phe)
c.2731C>T (p.Leu911Phe)
c.2596C>T (p.Leu866Phe)
c.2728C>T (p.Leu910Phe)
n.329+3281G>A
 dbSNP gnomAD v2
6g.33443328_33443329delCA2739272943SYNGAP1,SYNGAP1-AS1c.2518_2519del (p.Ser840LeufsTer11)
c.2776_2777del (p.Ser926LeufsTer11)
c.2734_2735del (p.Ser912LeufsTer11)
c.2599_2600del (p.Ser867LeufsTer11)
c.2731_2732del (p.Ser911LeufsTer11)
n.329+3280_329+3281del
 ClinVar
6g.33443326delCA658761548SYNGAP1,SYNGAP1-AS1c.2516del (p.Leu839ProfsTer?)
c.2774del (p.Leu925ProfsTer?)
c.2732del (p.Leu911ProfsTer?)
c.2597del (p.Leu866ProfsTer?)
c.2729del (p.Leu910ProfsTer?)
n.329+3280del
6g.33443326T>ACA363628443SYNGAP1,SYNGAP1-AS1c.2516T>A (p.Leu839His)
c.2774T>A (p.Leu925His)
c.2732T>A (p.Leu911His)
c.2597T>A (p.Leu866His)
c.2729T>A (p.Leu910His)
n.329+3280A>T
6g.33443326T>CCA363628440SYNGAP1,SYNGAP1-AS1c.2516T>C (p.Leu839Pro)
c.2774T>C (p.Leu925Pro)
c.2732T>C (p.Leu911Pro)
c.2597T>C (p.Leu866Pro)
c.2729T>C (p.Leu910Pro)
n.329+3280A>G
6g.33443326T>GCA363628444SYNGAP1,SYNGAP1-AS1c.2516T>G (p.Leu839Arg)
c.2774T>G (p.Leu925Arg)
c.2732T>G (p.Leu911Arg)
c.2597T>G (p.Leu866Arg)
c.2729T>G (p.Leu910Arg)
n.329+3280A>C
6g.33443327C>ACA450104033SYNGAP1,SYNGAP1-AS1c.2517C>A (p.Leu839=)
c.2775C>A (p.Leu925=)
c.2733C>A (p.Leu911=)
c.2598C>A (p.Leu866=)
c.2730C>A (p.Leu910=)
n.329+3279G>T
6g.33443327C>GCA450104032SYNGAP1,SYNGAP1-AS1c.2517C>G (p.Leu839=)
c.2775C>G (p.Leu925=)
c.2733C>G (p.Leu911=)
c.2598C>G (p.Leu866=)
c.2730C>G (p.Leu910=)
n.329+3279G>C
6g.33443327C>TCA450104031SYNGAP1,SYNGAP1-AS1c.2517C>T (p.Leu839=)
c.2775C>T (p.Leu925=)
c.2733C>T (p.Leu911=)
c.2598C>T (p.Leu866=)
c.2730C>T (p.Leu910=)
n.329+3279G>A
6g.33443328T>ACA363628445SYNGAP1,SYNGAP1-AS1c.2518T>A (p.Ser840Thr)
c.2776T>A (p.Ser926Thr)
c.2734T>A (p.Ser912Thr)
c.2599T>A (p.Ser867Thr)
c.2731T>A (p.Ser911Thr)
n.329+3278A>T
6g.33443328T>CCA363628447SYNGAP1,SYNGAP1-AS1c.2518T>C (p.Ser840Pro)
c.2776T>C (p.Ser926Pro)
c.2734T>C (p.Ser912Pro)
c.2599T>C (p.Ser867Pro)
c.2731T>C (p.Ser911Pro)
n.329+3278A>G
6g.33443328T>GCA363628446SYNGAP1,SYNGAP1-AS1c.2518T>G (p.Ser840Ala)
c.2776T>G (p.Ser926Ala)
c.2734T>G (p.Ser912Ala)
c.2599T>G (p.Ser867Ala)
c.2731T>G (p.Ser911Ala)
n.329+3278A>C
6g.33443329C>ACA363628449SYNGAP1,SYNGAP1-AS1c.2519C>A (p.Ser840Tyr)
c.2777C>A (p.Ser926Tyr)
c.2735C>A (p.Ser912Tyr)
c.2600C>A (p.Ser867Tyr)
c.2732C>A (p.Ser911Tyr)
n.329+3277G>T
6g.33443329C>GCA363628452SYNGAP1,SYNGAP1-AS1c.2519C>G (p.Ser840Cys)
c.2777C>G (p.Ser926Cys)
c.2735C>G (p.Ser912Cys)
c.2600C>G (p.Ser867Cys)
c.2732C>G (p.Ser911Cys)
n.329+3277G>C
6g.33443329C>TCA363628453SYNGAP1,SYNGAP1-AS1c.2519C>T (p.Ser840Phe)
c.2777C>T (p.Ser926Phe)
c.2735C>T (p.Ser912Phe)
c.2600C>T (p.Ser867Phe)
c.2732C>T (p.Ser911Phe)
n.329+3277G>A
6g.33443330C>ACA450104036SYNGAP1,SYNGAP1-AS1c.2520C>A (p.Ser840=)
c.2778C>A (p.Ser926=)
c.2736C>A (p.Ser912=)
c.2601C>A (p.Ser867=)
c.2733C>A (p.Ser911=)
n.329+3276G>T
6g.33443330C>GCA450104035SYNGAP1,SYNGAP1-AS1c.2520C>G (p.Ser840=)
c.2778C>G (p.Ser926=)
c.2736C>G (p.Ser912=)
c.2601C>G (p.Ser867=)
c.2733C>G (p.Ser911=)
n.329+3276G>C
6g.33443330C>TCA450104034SYNGAP1,SYNGAP1-AS1c.2520C>T (p.Ser840=)
c.2778C>T (p.Ser926=)
c.2736C>T (p.Ser912=)
c.2601C>T (p.Ser867=)
c.2733C>T (p.Ser911=)
n.329+3276G>A
 gnomAD v4
6g.33443331T>ACA363628454SYNGAP1,SYNGAP1-AS1c.2521T>A (p.Phe841Ile)
c.2779T>A (p.Phe927Ile)
c.2737T>A (p.Phe913Ile)
c.2602T>A (p.Phe868Ile)
c.2734T>A (p.Phe912Ile)
n.329+3275A>T
6g.33443331T>CCA363628455SYNGAP1,SYNGAP1-AS1c.2521T>C (p.Phe841Leu)
c.2779T>C (p.Phe927Leu)
c.2737T>C (p.Phe913Leu)
c.2602T>C (p.Phe868Leu)
c.2734T>C (p.Phe912Leu)
n.329+3275A>G
6g.33443331T>GCA363628456SYNGAP1,SYNGAP1-AS1c.2521T>G (p.Phe841Val)
c.2779T>G (p.Phe927Val)
c.2737T>G (p.Phe913Val)
c.2602T>G (p.Phe868Val)
c.2734T>G (p.Phe912Val)
n.329+3275A>C
6g.33443332T>ACA363628457SYNGAP1,SYNGAP1-AS1c.2522T>A (p.Phe841Tyr)
c.2780T>A (p.Phe927Tyr)
c.2738T>A (p.Phe913Tyr)
c.2603T>A (p.Phe868Tyr)
c.2735T>A (p.Phe912Tyr)
n.329+3274A>T
6g.33443332T>CCA363628459SYNGAP1,SYNGAP1-AS1c.2522T>C (p.Phe841Ser)
c.2780T>C (p.Phe927Ser)
c.2738T>C (p.Phe913Ser)
c.2603T>C (p.Phe868Ser)
c.2735T>C (p.Phe912Ser)
n.329+3274A>G
6g.33443332T>GCA363628461SYNGAP1,SYNGAP1-AS1c.2522T>G (p.Phe841Cys)
c.2780T>G (p.Phe927Cys)
c.2738T>G (p.Phe913Cys)
c.2603T>G (p.Phe868Cys)
c.2735T>G (p.Phe912Cys)
n.329+3274A>C
6g.33443333C>ACA363628464SYNGAP1,SYNGAP1-AS1c.2523C>A (p.Phe841Leu)
c.2781C>A (p.Phe927Leu)
c.2739C>A (p.Phe913Leu)
c.2604C>A (p.Phe868Leu)
c.2736C>A (p.Phe912Leu)
n.329+3273G>T
6g.33443333C>GCA363628467SYNGAP1,SYNGAP1-AS1c.2523C>G (p.Phe841Leu)
c.2781C>G (p.Phe927Leu)
c.2739C>G (p.Phe913Leu)
c.2604C>G (p.Phe868Leu)
c.2736C>G (p.Phe912Leu)
n.329+3273G>C
6g.33443333C>TCA450104037SYNGAP1,SYNGAP1-AS1c.2523C>T (p.Phe841=)
c.2781C>T (p.Phe927=)
c.2739C>T (p.Phe913=)
c.2604C>T (p.Phe868=)
c.2736C>T (p.Phe912=)
n.329+3273G>A
 gnomAD v4
6g.33443334C>ACA363628473SYNGAP1,SYNGAP1-AS1c.2524C>A (p.Gln842Lys)
c.2782C>A (p.Gln928Lys)
c.2740C>A (p.Gln914Lys)
c.2605C>A (p.Gln869Lys)
c.2737C>A (p.Gln913Lys)
n.329+3272G>T
6g.33443334C=CA1620014595SYNGAP1,SYNGAP1-AS1c.2524C= (p.Gln842=)
c.2782C= (p.Gln928=)
c.2740C= (p.Gln914=)
c.2605C= (p.Gln869=)
c.2737C= (p.Gln913=)
n.329+3272G=
6g.33443334C>GCA363628468SYNGAP1,SYNGAP1-AS1c.2524C>G (p.Gln842Glu)
c.2782C>G (p.Gln928Glu)
c.2740C>G (p.Gln914Glu)
c.2605C>G (p.Gln869Glu)
c.2737C>G (p.Gln913Glu)
n.329+3272G>C
6g.33443334C>TCA363628471SYNGAP1,SYNGAP1-AS1c.2524C>T (p.Gln842Ter)
c.2782C>T (p.Gln928Ter)
c.2740C>T (p.Gln914Ter)
c.2605C>T (p.Gln869Ter)
c.2737C>T (p.Gln913Ter)
n.329+3272G>A
 ClinVar dbSNP
6g.33443335A=CA1620014596SYNGAP1,SYNGAP1-AS1c.2525A= (p.Gln842=)
c.2783A= (p.Gln928=)
c.2741A= (p.Gln914=)
c.2606A= (p.Gln869=)
c.2738A= (p.Gln913=)
n.329+3271T=
6g.33443335A>CCA363628476SYNGAP1,SYNGAP1-AS1c.2525A>C (p.Gln842Pro)
c.2783A>C (p.Gln928Pro)
c.2741A>C (p.Gln914Pro)
c.2606A>C (p.Gln869Pro)
c.2738A>C (p.Gln913Pro)
n.329+3271T>G
6g.33443335A>GCA363628478SYNGAP1,SYNGAP1-AS1c.2525A>G (p.Gln842Arg)
c.2783A>G (p.Gln928Arg)
c.2741A>G (p.Gln914Arg)
c.2606A>G (p.Gln869Arg)
c.2738A>G (p.Gln913Arg)
n.329+3271T>C
 dbSNP gnomAD v2 gnomAD v4
6g.33443335A>TCA363628481SYNGAP1,SYNGAP1-AS1c.2525A>T (p.Gln842Leu)
c.2783A>T (p.Gln928Leu)
c.2741A>T (p.Gln914Leu)
c.2606A>T (p.Gln869Leu)
c.2738A>T (p.Gln913Leu)
n.329+3271T>A
6g.33443336G>ACA450104038SYNGAP1,SYNGAP1-AS1c.2526G>A (p.Gln842=)
c.2784G>A (p.Gln928=)
c.2742G>A (p.Gln914=)
c.2607G>A (p.Gln869=)
c.2739G>A (p.Gln913=)
n.329+3270C>T
6g.33443336G>CCA363628484SYNGAP1,SYNGAP1-AS1c.2526G>C (p.Gln842His)
c.2784G>C (p.Gln928His)
c.2742G>C (p.Gln914His)
c.2607G>C (p.Gln869His)
c.2739G>C (p.Gln913His)
n.329+3270C>G
6g.33443336G>TCA363628485SYNGAP1,SYNGAP1-AS1c.2526G>T (p.Gln842His)
c.2784G>T (p.Gln928His)
c.2742G>T (p.Gln914His)
c.2607G>T (p.Gln869His)
c.2739G>T (p.Gln913His)
n.329+3270C>A
6g.33443337A>CCA363628486SYNGAP1,SYNGAP1-AS1c.2527A>C (p.Asn843His)
c.2785A>C (p.Asn929His)
c.2743A>C (p.Asn915His)
c.2608A>C (p.Asn870His)
c.2740A>C (p.Asn914His)
n.329+3269T>G
6g.33443337A>GCA363628487SYNGAP1,SYNGAP1-AS1c.2527A>G (p.Asn843Asp)
c.2785A>G (p.Asn929Asp)
c.2743A>G (p.Asn915Asp)
c.2608A>G (p.Asn870Asp)
c.2740A>G (p.Asn914Asp)
n.329+3269T>C
6g.33443337A>TCA363628488SYNGAP1,SYNGAP1-AS1c.2527A>T (p.Asn843Tyr)
c.2785A>T (p.Asn929Tyr)
c.2743A>T (p.Asn915Tyr)
c.2608A>T (p.Asn870Tyr)
c.2740A>T (p.Asn914Tyr)
n.329+3269T>A
6g.33443338A>CCA363628489SYNGAP1,SYNGAP1-AS1c.2528A>C (p.Asn843Thr)
c.2786A>C (p.Asn929Thr)
c.2744A>C (p.Asn915Thr)
c.2609A>C (p.Asn870Thr)
c.2741A>C (p.Asn914Thr)
n.329+3268T>G
6g.33443338A>GCA363628490SYNGAP1,SYNGAP1-AS1c.2528A>G (p.Asn843Ser)
c.2786A>G (p.Asn929Ser)
c.2744A>G (p.Asn915Ser)
c.2609A>G (p.Asn870Ser)
c.2741A>G (p.Asn914Ser)
n.329+3268T>C
6g.33443338A>TCA363628491SYNGAP1,SYNGAP1-AS1c.2528A>T (p.Asn843Ile)
c.2786A>T (p.Asn929Ile)
c.2744A>T (p.Asn915Ile)
c.2609A>T (p.Asn870Ile)
c.2741A>T (p.Asn914Ile)
n.329+3268T>A
6g.33443339C>ACA363628493SYNGAP1,SYNGAP1-AS1c.2529C>A (p.Asn843Lys)
c.2787C>A (p.Asn929Lys)
c.2745C>A (p.Asn915Lys)
c.2610C>A (p.Asn870Lys)
c.2742C>A (p.Asn914Lys)
n.329+3267G>T
6g.33443339C>GCA363628492SYNGAP1,SYNGAP1-AS1c.2529C>G (p.Asn843Lys)
c.2787C>G (p.Asn929Lys)
c.2745C>G (p.Asn915Lys)
c.2610C>G (p.Asn870Lys)
c.2742C>G (p.Asn914Lys)
n.329+3267G>C
6g.33443339C>TCA450104039SYNGAP1,SYNGAP1-AS1c.2529C>T (p.Asn843=)
c.2787C>T (p.Asn929=)
c.2745C>T (p.Asn915=)
c.2610C>T (p.Asn870=)
c.2742C>T (p.Asn914=)
n.329+3267G>A
 ClinVar
6g.33443340C>ACA363628494SYNGAP1,SYNGAP1-AS1c.2530C>A (p.Pro844Thr)
c.2788C>A (p.Pro930Thr)
c.2746C>A (p.Pro916Thr)
c.2611C>A (p.Pro871Thr)
c.2743C>A (p.Pro915Thr)
n.329+3266G>T
6g.33443340C>GCA363628496SYNGAP1,SYNGAP1-AS1c.2530C>G (p.Pro844Ala)
c.2788C>G (p.Pro930Ala)
c.2746C>G (p.Pro916Ala)
c.2611C>G (p.Pro871Ala)
c.2743C>G (p.Pro915Ala)
n.329+3266G>C
6g.33443340C>TCA363628497SYNGAP1,SYNGAP1-AS1c.2530C>T (p.Pro844Ser)
c.2788C>T (p.Pro930Ser)
c.2746C>T (p.Pro916Ser)
c.2611C>T (p.Pro871Ser)
c.2743C>T (p.Pro915Ser)
n.329+3266G>A
6g.33443340_33443342delinsCCTCA1620014597SYNGAP1,SYNGAP1-AS1c.2530_2532delinsCCT (p.Pro844=)
c.2788_2790delinsCCT (p.Pro930=)
c.2746_2748delinsCCT (p.Pro916=)
c.2611_2613delinsCCT (p.Pro871=)
c.2743_2745delinsCCT (p.Pro915=)
n.329+3264_329+3266delinsAGG
6g.33443341C>ACA363628503SYNGAP1,SYNGAP1-AS1c.2531C>A (p.Pro844His)
c.2789C>A (p.Pro930His)
c.2747C>A (p.Pro916His)
c.2612C>A (p.Pro871His)
c.2744C>A (p.Pro915His)
n.329+3265G>T
6g.33443341C>GCA363628505SYNGAP1,SYNGAP1-AS1c.2531C>G (p.Pro844Arg)
c.2789C>G (p.Pro930Arg)
c.2747C>G (p.Pro916Arg)
c.2612C>G (p.Pro871Arg)
c.2744C>G (p.Pro915Arg)
n.329+3265G>C
6g.33443341C>TCA363628510SYNGAP1,SYNGAP1-AS1c.2531C>T (p.Pro844Leu)
c.2789C>T (p.Pro930Leu)
c.2747C>T (p.Pro916Leu)
c.2612C>T (p.Pro871Leu)
c.2744C>T (p.Pro915Leu)
n.329+3265G>A
6g.33443345_33443346delCA658796745SYNGAP1,SYNGAP1-AS1c.2535_2536del (p.Phe846ProfsTer5)
c.2793_2794del (p.Phe932ProfsTer5)
c.2751_2752del (p.Phe918ProfsTer5)
c.2616_2617del (p.Phe873ProfsTer5)
c.2748_2749del (p.Phe917ProfsTer5)
n.329+3264_329+3265del
 ClinVar dbSNP
6g.33443342T>ACA450104040SYNGAP1,SYNGAP1-AS1c.2532T>A (p.Pro844=)
c.2790T>A (p.Pro930=)
c.2748T>A (p.Pro916=)
c.2613T>A (p.Pro871=)
c.2745T>A (p.Pro915=)
n.329+3264A>T
6g.33443342T>CCA450104041SYNGAP1,SYNGAP1-AS1c.2532T>C (p.Pro844=)
c.2790T>C (p.Pro930=)
c.2748T>C (p.Pro916=)
c.2613T>C (p.Pro871=)
c.2745T>C (p.Pro915=)
n.329+3264A>G
6g.33443342T>GCA450104042SYNGAP1,SYNGAP1-AS1c.2532T>G (p.Pro844=)
c.2790T>G (p.Pro930=)
c.2748T>G (p.Pro916=)
c.2613T>G (p.Pro871=)
c.2745T>G (p.Pro915=)
n.329+3264A>C
6g.33443343C>ACA363628512SYNGAP1,SYNGAP1-AS1c.2533C>A (p.Leu845Ile)
c.2791C>A (p.Leu931Ile)
c.2749C>A (p.Leu917Ile)
c.2614C>A (p.Leu872Ile)
c.2746C>A (p.Leu916Ile)
n.329+3263G>T
6g.33443343C>GCA363628516SYNGAP1,SYNGAP1-AS1c.2533C>G (p.Leu845Val)
c.2791C>G (p.Leu931Val)
c.2749C>G (p.Leu917Val)
c.2614C>G (p.Leu872Val)
c.2746C>G (p.Leu916Val)
n.329+3263G>C
6g.33443343C>TCA363628517SYNGAP1,SYNGAP1-AS1c.2533C>T (p.Leu845Phe)
c.2791C>T (p.Leu931Phe)
c.2749C>T (p.Leu917Phe)
c.2614C>T (p.Leu872Phe)
c.2746C>T (p.Leu916Phe)
n.329+3263G>A
6g.33443344T>ACA363628518SYNGAP1,SYNGAP1-AS1c.2534T>A (p.Leu845His)
c.2792T>A (p.Leu931His)
c.2750T>A (p.Leu917His)
c.2615T>A (p.Leu872His)
c.2747T>A (p.Leu916His)
n.329+3262A>T
6g.33443344T>CCA363628519SYNGAP1,SYNGAP1-AS1c.2534T>C (p.Leu845Pro)
c.2792T>C (p.Leu931Pro)
c.2750T>C (p.Leu917Pro)
c.2615T>C (p.Leu872Pro)
c.2747T>C (p.Leu916Pro)
n.329+3262A>G
6g.33443344T>GCA363628520SYNGAP1,SYNGAP1-AS1c.2534T>G (p.Leu845Arg)
c.2792T>G (p.Leu931Arg)
c.2750T>G (p.Leu917Arg)
c.2615T>G (p.Leu872Arg)
c.2747T>G (p.Leu916Arg)
n.329+3262A>C
6g.33443345C>ACA450104043SYNGAP1,SYNGAP1-AS1c.2535C>A (p.Leu845=)
c.2793C>A (p.Leu931=)
c.2751C>A (p.Leu917=)
c.2616C>A (p.Leu872=)
c.2748C>A (p.Leu916=)
n.329+3261G>T
6g.33443345C>GCA450104044SYNGAP1,SYNGAP1-AS1c.2535C>G (p.Leu845=)
c.2793C>G (p.Leu931=)
c.2751C>G (p.Leu917=)
c.2616C>G (p.Leu872=)
c.2748C>G (p.Leu916=)
n.329+3261G>C
6g.33443345C>TCA450104045SYNGAP1,SYNGAP1-AS1c.2535C>T (p.Leu845=)
c.2793C>T (p.Leu931=)
c.2751C>T (p.Leu917=)
c.2616C>T (p.Leu872=)
c.2748C>T (p.Leu916=)
n.329+3261G>A
 dbSNP COSMIC COSMIC
6g.33443346T>ACA363628525SYNGAP1,SYNGAP1-AS1c.2536T>A (p.Phe846Ile)
c.2794T>A (p.Phe932Ile)
c.2752T>A (p.Phe918Ile)
c.2617T>A (p.Phe873Ile)
c.2749T>A (p.Phe917Ile)
n.329+3260A>T
6g.33443346T>CCA363628526SYNGAP1,SYNGAP1-AS1c.2536T>C (p.Phe846Leu)
c.2794T>C (p.Phe932Leu)
c.2752T>C (p.Phe918Leu)
c.2617T>C (p.Phe873Leu)
c.2749T>C (p.Phe917Leu)
n.329+3260A>G
6g.33443346T>GCA363628522SYNGAP1,SYNGAP1-AS1c.2536T>G (p.Phe846Val)
c.2794T>G (p.Phe932Val)
c.2752T>G (p.Phe918Val)
c.2617T>G (p.Phe873Val)
c.2749T>G (p.Phe917Val)
n.329+3260A>C
6g.33443347T>ACA363628529SYNGAP1,SYNGAP1-AS1c.2537T>A (p.Phe846Tyr)
c.2795T>A (p.Phe932Tyr)
c.2753T>A (p.Phe918Tyr)
c.2618T>A (p.Phe873Tyr)
c.2750T>A (p.Phe917Tyr)
n.329+3259A>T
6g.33443347T>CCA363628532SYNGAP1,SYNGAP1-AS1c.2537T>C (p.Phe846Ser)
c.2795T>C (p.Phe932Ser)
c.2753T>C (p.Phe918Ser)
c.2618T>C (p.Phe873Ser)
c.2750T>C (p.Phe917Ser)
n.329+3259A>G
6g.33443347T>GCA363628534SYNGAP1,SYNGAP1-AS1c.2537T>G (p.Phe846Cys)
c.2795T>G (p.Phe932Cys)
c.2753T>G (p.Phe918Cys)
c.2618T>G (p.Phe873Cys)
c.2750T>G (p.Phe917Cys)
n.329+3259A>C
6g.33443348C>ACA363628541SYNGAP1,SYNGAP1-AS1c.2538C>A (p.Phe846Leu)
c.2796C>A (p.Phe932Leu)
c.2754C>A (p.Phe918Leu)
c.2619C>A (p.Phe873Leu)
c.2751C>A (p.Phe917Leu)
n.329+3258G>T
6g.33443348C>GCA363628542SYNGAP1,SYNGAP1-AS1c.2538C>G (p.Phe846Leu)
c.2796C>G (p.Phe932Leu)
c.2754C>G (p.Phe918Leu)
c.2619C>G (p.Phe873Leu)
c.2751C>G (p.Phe917Leu)
n.329+3258G>C
6g.33443348C>TCA450104046SYNGAP1,SYNGAP1-AS1c.2538C>T (p.Phe846=)
c.2796C>T (p.Phe932=)
c.2754C>T (p.Phe918=)
c.2619C>T (p.Phe873=)
c.2751C>T (p.Phe917=)
n.329+3258G>A
6g.33443349delCA2770567187SYNGAP1,SYNGAP1-AS1c.2539del (p.His847ThrfsTer?)
c.2797del (p.His933ThrfsTer?)
c.2755del (p.His919ThrfsTer?)
c.2620del (p.His874ThrfsTer?)
c.2752del (p.His918ThrfsTer?)
n.329+3258del
6g.33443349C>ACA363628547SYNGAP1,SYNGAP1-AS1c.2539C>A (p.His847Asn)
c.2797C>A (p.His933Asn)
c.2755C>A (p.His919Asn)
c.2620C>A (p.His874Asn)
c.2752C>A (p.His918Asn)
n.329+3257G>T
6g.33443349C>GCA363628543SYNGAP1,SYNGAP1-AS1c.2539C>G (p.His847Asp)
c.2797C>G (p.His933Asp)
c.2755C>G (p.His919Asp)
c.2620C>G (p.His874Asp)
c.2752C>G (p.His918Asp)
n.329+3257G>C
6g.33443349C>TCA363628545SYNGAP1,SYNGAP1-AS1c.2539C>T (p.His847Tyr)
c.2797C>T (p.His933Tyr)
c.2755C>T (p.His919Tyr)
c.2620C>T (p.His874Tyr)
c.2752C>T (p.His918Tyr)
n.329+3257G>A
6g.33443350A>CCA363628558SYNGAP1,SYNGAP1-AS1c.2540A>C (p.His847Pro)
c.2798A>C (p.His933Pro)
c.2756A>C (p.His919Pro)
c.2621A>C (p.His874Pro)
c.2753A>C (p.His918Pro)
n.329+3256T>G
6g.33443350A>GCA363628561SYNGAP1,SYNGAP1-AS1c.2540A>G (p.His847Arg)
c.2798A>G (p.His933Arg)
c.2756A>G (p.His919Arg)
c.2621A>G (p.His874Arg)
c.2753A>G (p.His918Arg)
n.329+3256T>C
6g.33443350A>TCA363628566SYNGAP1,SYNGAP1-AS1c.2540A>T (p.His847Leu)
c.2798A>T (p.His933Leu)
c.2756A>T (p.His919Leu)
c.2621A>T (p.His874Leu)
c.2753A>T (p.His918Leu)
n.329+3256T>A
6g.33443351C>ACA363628569SYNGAP1,SYNGAP1-AS1c.2541C>A (p.His847Gln)
c.2799C>A (p.His933Gln)
c.2757C>A (p.His919Gln)
c.2622C>A (p.His874Gln)
c.2754C>A (p.His918Gln)
n.329+3255G>T
6g.33443351C>GCA363628571SYNGAP1,SYNGAP1-AS1c.2541C>G (p.His847Gln)
c.2799C>G (p.His933Gln)
c.2757C>G (p.His919Gln)
c.2622C>G (p.His874Gln)
c.2754C>G (p.His918Gln)
n.329+3255G>C
6g.33443351C>TCA450104047SYNGAP1,SYNGAP1-AS1c.2541C>T (p.His847=)
c.2799C>T (p.His933=)
c.2757C>T (p.His919=)
c.2622C>T (p.His874=)
c.2754C>T (p.His918=)
n.329+3255G>A
6g.33443352A>CCA363628578SYNGAP1,SYNGAP1-AS1c.2542A>C (p.Met848Leu)
c.2800A>C (p.Met934Leu)
c.2758A>C (p.Met920Leu)
c.2623A>C (p.Met875Leu)
c.2755A>C (p.Met919Leu)
n.329+3254T>G
6g.33443352A>GCA363628576SYNGAP1,SYNGAP1-AS1c.2542A>G (p.Met848Val)
c.2800A>G (p.Met934Val)
c.2758A>G (p.Met920Val)
c.2623A>G (p.Met875Val)
c.2755A>G (p.Met919Val)
n.329+3254T>C
 gnomAD v4
6g.33443352A>TCA363628574SYNGAP1,SYNGAP1-AS1c.2542A>T (p.Met848Leu)
c.2800A>T (p.Met934Leu)
c.2758A>T (p.Met920Leu)
c.2623A>T (p.Met875Leu)
c.2755A>T (p.Met919Leu)
n.329+3254T>A
6g.33443353T>ACA363628581SYNGAP1,SYNGAP1-AS1c.2543T>A (p.Met848Lys)
c.2801T>A (p.Met934Lys)
c.2759T>A (p.Met920Lys)
c.2624T>A (p.Met875Lys)
c.2756T>A (p.Met919Lys)
n.329+3253A>T
6g.33443353T>CCA363628582SYNGAP1,SYNGAP1-AS1c.2543T>C (p.Met848Thr)
c.2801T>C (p.Met934Thr)
c.2759T>C (p.Met920Thr)
c.2624T>C (p.Met875Thr)
c.2756T>C (p.Met919Thr)
n.329+3253A>G
6g.33443353T>GCA363628583SYNGAP1,SYNGAP1-AS1c.2543T>G (p.Met848Arg)
c.2801T>G (p.Met934Arg)
c.2759T>G (p.Met920Arg)
c.2624T>G (p.Met875Arg)
c.2756T>G (p.Met919Arg)
n.329+3253A>C
6g.33443354G>ACA363628584SYNGAP1,SYNGAP1-AS1c.2544G>A (p.Met848Ile)
c.2802G>A (p.Met934Ile)
c.2760G>A (p.Met920Ile)
c.2625G>A (p.Met875Ile)
c.2757G>A (p.Met919Ile)
n.329+3252C>T
6g.33443354G>CCA363628585SYNGAP1,SYNGAP1-AS1c.2544G>C (p.Met848Ile)
c.2802G>C (p.Met934Ile)
c.2760G>C (p.Met920Ile)
c.2625G>C (p.Met875Ile)
c.2757G>C (p.Met919Ile)
n.329+3252C>G
6g.33443354G>TCA363628587SYNGAP1,SYNGAP1-AS1c.2544G>T (p.Met848Ile)
c.2802G>T (p.Met934Ile)
c.2760G>T (p.Met920Ile)
c.2625G>T (p.Met875Ile)
c.2757G>T (p.Met919Ile)
n.329+3252C>A
6g.33443354_33443357delinsGGCTCA1620014598SYNGAP1,SYNGAP1-AS1c.2544_2547delinsGGCT (p.Met848=)
c.2802_2805delinsGGCT (p.Met934=)
c.2760_2763delinsGGCT (p.Met920=)
c.2625_2628delinsGGCT (p.Met875=)
c.2757_2760delinsGGCT (p.Met919=)
n.329+3249_329+3252delinsAGCC
6g.33443355G>ACA363628596SYNGAP1,SYNGAP1-AS1c.2545G>A (p.Ala849Thr)
c.2803G>A (p.Ala935Thr)
c.2761G>A (p.Ala921Thr)
c.2626G>A (p.Ala876Thr)
c.2758G>A (p.Ala920Thr)
n.329+3251C>T
6g.33443355G>CCA363628593SYNGAP1,SYNGAP1-AS1c.2545G>C (p.Ala849Pro)
c.2803G>C (p.Ala935Pro)
c.2761G>C (p.Ala921Pro)
c.2626G>C (p.Ala876Pro)
c.2758G>C (p.Ala920Pro)
n.329+3251C>G
6g.33443355G>TCA363628590SYNGAP1,SYNGAP1-AS1c.2545G>T (p.Ala849Ser)
c.2803G>T (p.Ala935Ser)
c.2761G>T (p.Ala921Ser)
c.2626G>T (p.Ala876Ser)
c.2758G>T (p.Ala920Ser)
n.329+3251C>A
6g.33443359_33443361delCA891843218SYNGAP1,SYNGAP1-AS1c.2549_2551del (p.Ala850del)
c.2807_2809del (p.Ala936del)
c.2765_2767del (p.Ala922del)
c.2630_2632del (p.Ala877del)
c.2762_2764del (p.Ala921del)
n.329+3249_329+3251del
 ClinVar dbSNP gnomAD v4
6g.33443356C>ACA363628600SYNGAP1,SYNGAP1-AS1c.2546C>A (p.Ala849Asp)
c.2804C>A (p.Ala935Asp)
c.2762C>A (p.Ala921Asp)
c.2627C>A (p.Ala876Asp)
c.2759C>A (p.Ala920Asp)
n.329+3250G>T
6g.33443356C>GCA363628603SYNGAP1,SYNGAP1-AS1c.2546C>G (p.Ala849Gly)
c.2804C>G (p.Ala935Gly)
c.2762C>G (p.Ala921Gly)
c.2627C>G (p.Ala876Gly)
c.2759C>G (p.Ala920Gly)
n.329+3250G>C
6g.33443356C>TCA363628605SYNGAP1,SYNGAP1-AS1c.2546C>T (p.Ala849Val)
c.2804C>T (p.Ala935Val)
c.2762C>T (p.Ala921Val)
c.2627C>T (p.Ala876Val)
c.2759C>T (p.Ala920Val)
n.329+3250G>A
6g.33443357T>ACA450104048SYNGAP1,SYNGAP1-AS1c.2547T>A (p.Ala849=)
c.2805T>A (p.Ala935=)
c.2763T>A (p.Ala921=)
c.2628T>A (p.Ala876=)
c.2760T>A (p.Ala920=)
n.329+3249A>T
6g.33443357T>CCA450104049SYNGAP1,SYNGAP1-AS1c.2547T>C (p.Ala849=)
c.2805T>C (p.Ala935=)
c.2763T>C (p.Ala921=)
c.2628T>C (p.Ala876=)
c.2760T>C (p.Ala920=)
n.329+3249A>G
6g.33443357T>GCA450104050SYNGAP1,SYNGAP1-AS1c.2547T>G (p.Ala849=)
c.2805T>G (p.Ala935=)
c.2763T>G (p.Ala921=)
c.2628T>G (p.Ala876=)
c.2760T>G (p.Ala920=)
n.329+3249A>C
6g.33443358G>ACA363628610SYNGAP1,SYNGAP1-AS1c.2548G>A (p.Ala850Thr)
c.2806G>A (p.Ala936Thr)
c.2764G>A (p.Ala922Thr)
c.2629G>A (p.Ala877Thr)
c.2761G>A (p.Ala921Thr)
n.329+3248C>T
 gnomAD v4
6g.33443358G>CCA363628619SYNGAP1,SYNGAP1-AS1c.2548G>C (p.Ala850Pro)
c.2806G>C (p.Ala936Pro)
c.2764G>C (p.Ala922Pro)
c.2629G>C (p.Ala877Pro)
c.2761G>C (p.Ala921Pro)
n.329+3248C>G
6g.33443358G>TCA363628621SYNGAP1,SYNGAP1-AS1c.2548G>T (p.Ala850Ser)
c.2806G>T (p.Ala936Ser)
c.2764G>T (p.Ala922Ser)
c.2629G>T (p.Ala877Ser)
c.2761G>T (p.Ala921Ser)
n.329+3248C>A
6g.33443359C>ACA363628624SYNGAP1,SYNGAP1-AS1c.2549C>A (p.Ala850Asp)
c.2807C>A (p.Ala936Asp)
c.2765C>A (p.Ala922Asp)
c.2630C>A (p.Ala877Asp)
c.2762C>A (p.Ala921Asp)
n.329+3247G>T
6g.33443359C>GCA363628629SYNGAP1,SYNGAP1-AS1c.2549C>G (p.Ala850Gly)
c.2807C>G (p.Ala936Gly)
c.2765C>G (p.Ala922Gly)
c.2630C>G (p.Ala877Gly)
c.2762C>G (p.Ala921Gly)
n.329+3247G>C
6g.33443359C>TCA363628626SYNGAP1,SYNGAP1-AS1c.2549C>T (p.Ala850Val)
c.2807C>T (p.Ala936Val)
c.2765C>T (p.Ala922Val)
c.2630C>T (p.Ala877Val)
c.2762C>T (p.Ala921Val)
n.329+3247G>A
 gnomAD v4
6g.33443360T>ACA450104053SYNGAP1,SYNGAP1-AS1c.2550T>A (p.Ala850=)
c.2808T>A (p.Ala936=)
c.2766T>A (p.Ala922=)
c.2631T>A (p.Ala877=)
c.2763T>A (p.Ala921=)
n.329+3246A>T
6g.33443360T>CCA450104051SYNGAP1,SYNGAP1-AS1c.2550T>C (p.Ala850=)
c.2808T>C (p.Ala936=)
c.2766T>C (p.Ala922=)
c.2631T>C (p.Ala877=)
c.2763T>C (p.Ala921=)
n.329+3246A>G
6g.33443360T>GCA450104052SYNGAP1,SYNGAP1-AS1c.2550T>G (p.Ala850=)
c.2808T>G (p.Ala936=)
c.2766T>G (p.Ala922=)
c.2631T>G (p.Ala877=)
c.2763T>G (p.Ala921=)
n.329+3246A>C
6g.33443361G>ACA363628635SYNGAP1,SYNGAP1-AS1c.2551G>A (p.Asp851Asn)
c.2809G>A (p.Asp937Asn)
c.2767G>A (p.Asp923Asn)
c.2632G>A (p.Asp878Asn)
c.2764G>A (p.Asp922Asn)
n.329+3245C>T
 dbSNP
6g.33443361G>CCA363628637SYNGAP1,SYNGAP1-AS1c.2551G>C (p.Asp851His)
c.2809G>C (p.Asp937His)
c.2767G>C (p.Asp923His)
c.2632G>C (p.Asp878His)
c.2764G>C (p.Asp922His)
n.329+3245C>G
 ClinVar
6g.33443361G=CA1620014599SYNGAP1,SYNGAP1-AS1c.2551G= (p.Asp851=)
c.2809G= (p.Asp937=)
c.2767G= (p.Asp923=)
c.2632G= (p.Asp878=)
c.2764G= (p.Asp922=)
n.329+3245C=
6g.33443361G>TCA363628638SYNGAP1,SYNGAP1-AS1c.2551G>T (p.Asp851Tyr)
c.2809G>T (p.Asp937Tyr)
c.2767G>T (p.Asp923Tyr)
c.2632G>T (p.Asp878Tyr)
c.2764G>T (p.Asp922Tyr)
n.329+3245C>A
6g.33443362A>CCA363628639SYNGAP1,SYNGAP1-AS1c.2552A>C (p.Asp851Ala)
c.2810A>C (p.Asp937Ala)
c.2768A>C (p.Asp923Ala)
c.2633A>C (p.Asp878Ala)
c.2765A>C (p.Asp922Ala)
n.329+3244T>G
6g.33443362A>GCA363628640SYNGAP1,SYNGAP1-AS1c.2552A>G (p.Asp851Gly)
c.2810A>G (p.Asp937Gly)
c.2768A>G (p.Asp923Gly)
c.2633A>G (p.Asp878Gly)
c.2765A>G (p.Asp922Gly)
n.329+3244T>C
6g.33443362A>TCA363628642SYNGAP1,SYNGAP1-AS1c.2552A>T (p.Asp851Val)
c.2810A>T (p.Asp937Val)
c.2768A>T (p.Asp923Val)
c.2633A>T (p.Asp878Val)
c.2765A>T (p.Asp922Val)
n.329+3244T>A
6g.33443363T>ACA363628644SYNGAP1,SYNGAP1-AS1c.2553T>A (p.Asp851Glu)
c.2811T>A (p.Asp937Glu)
c.2769T>A (p.Asp923Glu)
c.2634T>A (p.Asp878Glu)
c.2766T>A (p.Asp922Glu)
n.329+3243A>T
6g.33443363T>CCA450104054SYNGAP1,SYNGAP1-AS1c.2553T>C (p.Asp851=)
c.2811T>C (p.Asp937=)
c.2769T>C (p.Asp923=)
c.2634T>C (p.Asp878=)
c.2766T>C (p.Asp922=)
n.329+3243A>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.33443363T>GCA363628647SYNGAP1,SYNGAP1-AS1c.2553T>G (p.Asp851Glu)
c.2811T>G (p.Asp937Glu)
c.2769T>G (p.Asp923Glu)
c.2634T>G (p.Asp878Glu)
c.2766T>G (p.Asp922Glu)
n.329+3243A>C
6g.33443363T=CA1620014600SYNGAP1,SYNGAP1-AS1c.2553T= (p.Asp851=)
c.2811T= (p.Asp937=)
c.2769T= (p.Asp923=)
c.2634T= (p.Asp878=)
c.2766T= (p.Asp922=)
n.329+3243A=
6g.33443364G>ACA363628656SYNGAP1,SYNGAP1-AS1c.2554G>A (p.Gly852Arg)
c.2812G>A (p.Gly938Arg)
c.2770G>A (p.Gly924Arg)
c.2635G>A (p.Gly879Arg)
c.2767G>A (p.Gly923Arg)
n.329+3242C>T
 ClinVar dbSNP
6g.33443364G>CCA363628657SYNGAP1,SYNGAP1-AS1c.2554G>C (p.Gly852Arg)
c.2812G>C (p.Gly938Arg)
c.2770G>C (p.Gly924Arg)
c.2635G>C (p.Gly879Arg)
c.2767G>C (p.Gly923Arg)
n.329+3242C>G
6g.33443364G=CA1620014602SYNGAP1,SYNGAP1-AS1c.2554G= (p.Gly852=)
c.2812G= (p.Gly938=)
c.2770G= (p.Gly924=)
c.2635G= (p.Gly879=)
c.2767G= (p.Gly923=)
n.329+3242C=
6g.33443364G>TCA363628658SYNGAP1,SYNGAP1-AS1c.2554G>T (p.Gly852Trp)
c.2812G>T (p.Gly938Trp)
c.2770G>T (p.Gly924Trp)
c.2635G>T (p.Gly879Trp)
c.2767G>T (p.Gly923Trp)
n.329+3242C>A
6g.33443364_33443399delinsGGGCCAGGTCCCCCAGGCGGCCATGGAGGGGGCGGTCA1620014601SYNGAP1,SYNGAP1-AS1c.2554_2589delinsGGGCCAGGTCCCCCAGGCGGCCATGGAGGGGGCGGT (p.Gly852=)
c.2812_2847delinsGGGCCAGGTCCCCCAGGCGGCCATGGAGGGGGCGGT (p.Gly938=)
c.2770_2805delinsGGGCCAGGTCCCCCAGGCGGCCATGGAGGGGGCGGT (p.Gly924=)
c.2635_2670delinsGGGCCAGGTCCCCCAGGCGGCCATGGAGGGGGCGGT (p.Gly879=)
c.2767_2802delinsGGGCCAGGTCCCCCAGGCGGCCATGGAGGGGGCGGT (p.Gly923=)
n.329+3207_329+3242delinsACCGCCCCCTCCATGGCCGCCTGGGGGACCTGGCCC
6g.33443365G>ACA363628660SYNGAP1,SYNGAP1-AS1c.2555G>A (p.Gly852Glu)
c.2813G>A (p.Gly938Glu)
c.2771G>A (p.Gly924Glu)
c.2636G>A (p.Gly879Glu)
c.2768G>A (p.Gly923Glu)
n.329+3241C>T
6g.33443365G>CCA363628664SYNGAP1,SYNGAP1-AS1c.2555G>C (p.Gly852Ala)
c.2813G>C (p.Gly938Ala)
c.2771G>C (p.Gly924Ala)
c.2636G>C (p.Gly879Ala)
c.2768G>C (p.Gly923Ala)
n.329+3241C>G
6g.33443365G>TCA363628661SYNGAP1,SYNGAP1-AS1c.2555G>T (p.Gly852Val)
c.2813G>T (p.Gly938Val)
c.2771G>T (p.Gly924Val)
c.2636G>T (p.Gly879Val)
c.2768G>T (p.Gly923Val)
n.329+3241C>A
6g.33443370_33443404delCA891843219SYNGAP1,SYNGAP1-AS1c.2560_2594del (p.Gly854TrpfsTer?)
c.2818_2852del (p.Gly940TrpfsTer?)
c.2776_2810del (p.Gly926TrpfsTer?)
c.2641_2675del (p.Gly881TrpfsTer?)
c.2773_2807del (p.Gly925TrpfsTer?)
n.329+3207_329+3241del
 ClinVar dbSNP
6g.33443366G>ACA450104055SYNGAP1,SYNGAP1-AS1c.2556G>A (p.Gly852=)
c.2814G>A (p.Gly938=)
c.2772G>A (p.Gly924=)
c.2637G>A (p.Gly879=)
c.2769G>A (p.Gly923=)
n.329+3240C>T
6g.33443366G>CCA450104056SYNGAP1,SYNGAP1-AS1c.2556G>C (p.Gly852=)
c.2814G>C (p.Gly938=)
c.2772G>C (p.Gly924=)
c.2637G>C (p.Gly879=)
c.2769G>C (p.Gly923=)
n.329+3240C>G
6g.33443366G>TCA450104057SYNGAP1,SYNGAP1-AS1c.2556G>T (p.Gly852=)
c.2814G>T (p.Gly938=)
c.2772G>T (p.Gly924=)
c.2637G>T (p.Gly879=)
c.2769G>T (p.Gly923=)
n.329+3240C>A
6g.33443367_33443370delCA2695206221SYNGAP1,SYNGAP1-AS1c.2557_2560del (p.Pro853ValfsTer?)
c.2815_2818del (p.Pro939ValfsTer?)
c.2773_2776del (p.Pro925ValfsTer?)
c.2638_2641del (p.Pro880ValfsTer?)
c.2770_2773del (p.Pro924ValfsTer?)
n.329+3237_329+3240del
6g.33443367C>ACA363628667SYNGAP1,SYNGAP1-AS1c.2557C>A (p.Pro853Thr)
c.2815C>A (p.Pro939Thr)
c.2773C>A (p.Pro925Thr)
c.2638C>A (p.Pro880Thr)
c.2770C>A (p.Pro924Thr)
n.329+3239G>T
6g.33443367C>GCA363628670SYNGAP1,SYNGAP1-AS1c.2557C>G (p.Pro853Ala)
c.2815C>G (p.Pro939Ala)
c.2773C>G (p.Pro925Ala)
c.2638C>G (p.Pro880Ala)
c.2770C>G (p.Pro924Ala)
n.329+3239G>C
6g.33443367C>TCA363628673SYNGAP1,SYNGAP1-AS1c.2557C>T (p.Pro853Ser)
c.2815C>T (p.Pro939Ser)
c.2773C>T (p.Pro925Ser)
c.2638C>T (p.Pro880Ser)
c.2770C>T (p.Pro924Ser)
n.329+3239G>A
6g.33443368C>ACA363628677SYNGAP1,SYNGAP1-AS1c.2558C>A (p.Pro853Gln)
c.2816C>A (p.Pro939Gln)
c.2774C>A (p.Pro925Gln)
c.2639C>A (p.Pro880Gln)
c.2771C>A (p.Pro924Gln)
n.329+3238G>T
6g.33443368C>GCA363628680SYNGAP1,SYNGAP1-AS1c.2558C>G (p.Pro853Arg)
c.2816C>G (p.Pro939Arg)
c.2774C>G (p.Pro925Arg)
c.2639C>G (p.Pro880Arg)
c.2771C>G (p.Pro924Arg)
n.329+3238G>C
 gnomAD v4
6g.33443368C>TCA363628682SYNGAP1,SYNGAP1-AS1c.2558C>T (p.Pro853Leu)
c.2816C>T (p.Pro939Leu)
c.2774C>T (p.Pro925Leu)
c.2639C>T (p.Pro880Leu)
c.2771C>T (p.Pro924Leu)
n.329+3238G>A
6g.33443369A>CCA450104058SYNGAP1,SYNGAP1-AS1c.2559A>C (p.Pro853=)
c.2817A>C (p.Pro939=)
c.2775A>C (p.Pro925=)
c.2640A>C (p.Pro880=)
c.2772A>C (p.Pro924=)
n.329+3237T>G
6g.33443369A>GCA450104059SYNGAP1,SYNGAP1-AS1c.2559A>G (p.Pro853=)
c.2817A>G (p.Pro939=)
c.2775A>G (p.Pro925=)
c.2640A>G (p.Pro880=)
c.2772A>G (p.Pro924=)
n.329+3237T>C
6g.33443369A>TCA450104060SYNGAP1,SYNGAP1-AS1c.2559A>T (p.Pro853=)
c.2817A>T (p.Pro939=)
c.2775A>T (p.Pro925=)
c.2640A>T (p.Pro880=)
c.2772A>T (p.Pro924=)
n.329+3237T>A
6g.33443370G>ACA363628690SYNGAP1,SYNGAP1-AS1c.2560G>A (p.Gly854Ser)
c.2818G>A (p.Gly940Ser)
c.2776G>A (p.Gly926Ser)
c.2641G>A (p.Gly881Ser)
c.2773G>A (p.Gly925Ser)
n.329+3236C>T
 ClinVar dbSNP gnomAD v4
6g.33443370G>CCA363628691SYNGAP1,SYNGAP1-AS1c.2560G>C (p.Gly854Arg)
c.2818G>C (p.Gly940Arg)
c.2776G>C (p.Gly926Arg)
c.2641G>C (p.Gly881Arg)
c.2773G>C (p.Gly925Arg)
n.329+3236C>G
 ClinVar dbSNP gnomAD v3 gnomAD v4
6g.33443370G=CA1620014603SYNGAP1,SYNGAP1-AS1c.2560G= (p.Gly854=)
c.2818G= (p.Gly940=)
c.2776G= (p.Gly926=)
c.2641G= (p.Gly881=)
c.2773G= (p.Gly925=)
n.329+3236C=
6g.33443370G>TCA363628692SYNGAP1,SYNGAP1-AS1c.2560G>T (p.Gly854Cys)
c.2818G>T (p.Gly940Cys)
c.2776G>T (p.Gly926Cys)
c.2641G>T (p.Gly881Cys)
c.2773G>T (p.Gly925Cys)
n.329+3236C>A
6g.33443371G>ACA363628694SYNGAP1,SYNGAP1-AS1c.2561G>A (p.Gly854Asp)
c.2819G>A (p.Gly940Asp)
c.2777G>A (p.Gly926Asp)
c.2642G>A (p.Gly881Asp)
c.2774G>A (p.Gly925Asp)
n.329+3235C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.33443371G>CCA363628696SYNGAP1,SYNGAP1-AS1c.2561G>C (p.Gly854Ala)
c.2819G>C (p.Gly940Ala)
c.2777G>C (p.Gly926Ala)
c.2642G>C (p.Gly881Ala)
c.2774G>C (p.Gly925Ala)
n.329+3235C>G
6g.33443371G=CA1620014604SYNGAP1,SYNGAP1-AS1c.2561G= (p.Gly854=)
c.2819G= (p.Gly940=)
c.2777G= (p.Gly926=)
c.2642G= (p.Gly881=)
c.2774G= (p.Gly925=)
n.329+3235C=
6g.33443371G>TCA363628699SYNGAP1,SYNGAP1-AS1c.2561G>T (p.Gly854Val)
c.2819G>T (p.Gly940Val)
c.2777G>T (p.Gly926Val)
c.2642G>T (p.Gly881Val)
c.2774G>T (p.Gly925Val)
n.329+3235C>A

Number of alleles fetched