Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.33443198G>ACA450103786SYNGAP1,SYNGAP1-AS1c.2388G>A (p.Gly796=)
c.2646G>A (p.Gly882=)
c.2604G>A (p.Gly868=)
c.2469G>A (p.Gly823=)
c.2601G>A (p.Gly867=)
n.329+3408C>T
6g.33443198G>CCA450103787SYNGAP1,SYNGAP1-AS1c.2388G>C (p.Gly796=)
c.2646G>C (p.Gly882=)
c.2604G>C (p.Gly868=)
c.2469G>C (p.Gly823=)
c.2601G>C (p.Gly867=)
n.329+3408C>G
6g.33443198G=CA1620014534SYNGAP1,SYNGAP1-AS1c.2388G= (p.Gly796=)
c.2646G= (p.Gly882=)
c.2604G= (p.Gly868=)
c.2469G= (p.Gly823=)
c.2601G= (p.Gly867=)
n.329+3408C=
6g.33443198G>TCA450103788SYNGAP1,SYNGAP1-AS1c.2388G>T (p.Gly796=)
c.2646G>T (p.Gly882=)
c.2604G>T (p.Gly868=)
c.2469G>T (p.Gly823=)
c.2601G>T (p.Gly867=)
n.329+3408C>A
 dbSNP gnomAD v4
6g.33443199C>ACA363626367SYNGAP1,SYNGAP1-AS1c.2389C>A (p.Leu797Ile)
c.2647C>A (p.Leu883Ile)
c.2605C>A (p.Leu869Ile)
c.2470C>A (p.Leu824Ile)
c.2602C>A (p.Leu868Ile)
n.329+3407G>T
6g.33443199C=CA1620014535SYNGAP1,SYNGAP1-AS1c.2389C= (p.Leu797=)
c.2647C= (p.Leu883=)
c.2605C= (p.Leu869=)
c.2470C= (p.Leu824=)
c.2602C= (p.Leu868=)
n.329+3407G=
6g.33443199C>GCA363626370SYNGAP1,SYNGAP1-AS1c.2389C>G (p.Leu797Val)
c.2647C>G (p.Leu883Val)
c.2605C>G (p.Leu869Val)
c.2470C>G (p.Leu824Val)
c.2602C>G (p.Leu868Val)
n.329+3407G>C
6g.33443199C>TCA450103789SYNGAP1,SYNGAP1-AS1c.2389C>T (p.Leu797=)
c.2647C>T (p.Leu883=)
c.2605C>T (p.Leu869=)
c.2470C>T (p.Leu824=)
c.2602C>T (p.Leu868=)
n.329+3407G>A
 ClinVar dbSNP gnomAD v4
6g.33443200T>ACA363626374SYNGAP1,SYNGAP1-AS1c.2390T>A (p.Leu797Gln)
c.2648T>A (p.Leu883Gln)
c.2606T>A (p.Leu869Gln)
c.2471T>A (p.Leu824Gln)
c.2603T>A (p.Leu868Gln)
n.329+3406A>T
 dbSNP gnomAD v2 gnomAD v4
6g.33443200T>CCA363626377SYNGAP1,SYNGAP1-AS1c.2390T>C (p.Leu797Pro)
c.2648T>C (p.Leu883Pro)
c.2606T>C (p.Leu869Pro)
c.2471T>C (p.Leu824Pro)
c.2603T>C (p.Leu868Pro)
n.329+3406A>G
6g.33443200T>GCA363626379SYNGAP1,SYNGAP1-AS1c.2390T>G (p.Leu797Arg)
c.2648T>G (p.Leu883Arg)
c.2606T>G (p.Leu869Arg)
c.2471T>G (p.Leu824Arg)
c.2603T>G (p.Leu868Arg)
n.329+3406A>C
6g.33443200T=CA1620014536SYNGAP1,SYNGAP1-AS1c.2390T= (p.Leu797=)
c.2648T= (p.Leu883=)
c.2606T= (p.Leu869=)
c.2471T= (p.Leu824=)
c.2603T= (p.Leu868=)
n.329+3406A=
6g.33443201A>CCA450103790SYNGAP1,SYNGAP1-AS1c.2391A>C (p.Leu797=)
c.2649A>C (p.Leu883=)
c.2607A>C (p.Leu869=)
c.2472A>C (p.Leu824=)
c.2604A>C (p.Leu868=)
n.329+3405T>G
6g.33443201A>GCA450103791SYNGAP1,SYNGAP1-AS1c.2391A>G (p.Leu797=)
c.2649A>G (p.Leu883=)
c.2607A>G (p.Leu869=)
c.2472A>G (p.Leu824=)
c.2604A>G (p.Leu868=)
n.329+3405T>C
6g.33443201A>TCA450103792SYNGAP1,SYNGAP1-AS1c.2391A>T (p.Leu797=)
c.2649A>T (p.Leu883=)
c.2607A>T (p.Leu869=)
c.2472A>T (p.Leu824=)
c.2604A>T (p.Leu868=)
n.329+3405T>A
6g.33443202C>ACA450103793SYNGAP1,SYNGAP1-AS1c.2392C>A (p.Arg798=)
c.2650C>A (p.Arg884=)
c.2608C>A (p.Arg870=)
c.2473C>A (p.Arg825=)
c.2605C>A (p.Arg869=)
n.329+3404G>T
 ClinVar
6g.33443202C=CA1620014537SYNGAP1,SYNGAP1-AS1c.2392C= (p.Arg798=)
c.2650C= (p.Arg884=)
c.2608C= (p.Arg870=)
c.2473C= (p.Arg825=)
c.2605C= (p.Arg869=)
n.329+3404G=
6g.33443202C>GCA363626382SYNGAP1,SYNGAP1-AS1c.2392C>G (p.Arg798Gly)
c.2650C>G (p.Arg884Gly)
c.2608C>G (p.Arg870Gly)
c.2473C>G (p.Arg825Gly)
c.2605C>G (p.Arg869Gly)
n.329+3404G>C
6g.33443202C>TCA137072904SYNGAP1,SYNGAP1-AS1c.2392C>T (p.Arg798Trp)
c.2650C>T (p.Arg884Trp)
c.2608C>T (p.Arg870Trp)
c.2473C>T (p.Arg825Trp)
c.2605C>T (p.Arg869Trp)
n.329+3404G>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
6g.33443203G>ACA363626395SYNGAP1,SYNGAP1-AS1c.2393G>A (p.Arg798Gln)
c.2651G>A (p.Arg884Gln)
c.2609G>A (p.Arg870Gln)
c.2474G>A (p.Arg825Gln)
c.2606G>A (p.Arg869Gln)
n.329+3403C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
6g.33443203G>CCA363626389SYNGAP1,SYNGAP1-AS1c.2393G>C (p.Arg798Pro)
c.2651G>C (p.Arg884Pro)
c.2609G>C (p.Arg870Pro)
c.2474G>C (p.Arg825Pro)
c.2606G>C (p.Arg869Pro)
n.329+3403C>G
6g.33443203G=CA1620014538SYNGAP1,SYNGAP1-AS1c.2393G= (p.Arg798=)
c.2651G= (p.Arg884=)
c.2609G= (p.Arg870=)
c.2474G= (p.Arg825=)
c.2606G= (p.Arg869=)
n.329+3403C=
6g.33443203G>TCA363626392SYNGAP1,SYNGAP1-AS1c.2393G>T (p.Arg798Leu)
c.2651G>T (p.Arg884Leu)
c.2609G>T (p.Arg870Leu)
c.2474G>T (p.Arg825Leu)
c.2606G>T (p.Arg869Leu)
n.329+3403C>A
6g.33443204G>ACA450103794SYNGAP1,SYNGAP1-AS1c.2394G>A (p.Arg798=)
c.2652G>A (p.Arg884=)
c.2610G>A (p.Arg870=)
c.2475G>A (p.Arg825=)
c.2607G>A (p.Arg869=)
n.329+3402C>T
6g.33443204G>CCA450103795SYNGAP1,SYNGAP1-AS1c.2394G>C (p.Arg798=)
c.2652G>C (p.Arg884=)
c.2610G>C (p.Arg870=)
c.2475G>C (p.Arg825=)
c.2607G>C (p.Arg869=)
n.329+3402C>G
6g.33443204G>TCA450103796SYNGAP1,SYNGAP1-AS1c.2394G>T (p.Arg798=)
c.2652G>T (p.Arg884=)
c.2610G>T (p.Arg870=)
c.2475G>T (p.Arg825=)
c.2607G>T (p.Arg869=)
n.329+3402C>A
6g.33443205C>ACA363626402SYNGAP1,SYNGAP1-AS1c.2395C>A (p.Pro799Thr)
c.2653C>A (p.Pro885Thr)
c.2611C>A (p.Pro871Thr)
c.2476C>A (p.Pro826Thr)
c.2608C>A (p.Pro870Thr)
n.329+3401G>T
6g.33443205C>GCA363626403SYNGAP1,SYNGAP1-AS1c.2395C>G (p.Pro799Ala)
c.2653C>G (p.Pro885Ala)
c.2611C>G (p.Pro871Ala)
c.2476C>G (p.Pro826Ala)
c.2608C>G (p.Pro870Ala)
n.329+3401G>C
6g.33443205C>TCA363626408SYNGAP1,SYNGAP1-AS1c.2395C>T (p.Pro799Ser)
c.2653C>T (p.Pro885Ser)
c.2611C>T (p.Pro871Ser)
c.2476C>T (p.Pro826Ser)
c.2608C>T (p.Pro870Ser)
n.329+3401G>A
 COSMIC COSMIC
6g.33443206C>ACA363626412SYNGAP1,SYNGAP1-AS1c.2396C>A (p.Pro799His)
c.2654C>A (p.Pro885His)
c.2612C>A (p.Pro871His)
c.2477C>A (p.Pro826His)
c.2609C>A (p.Pro870His)
n.329+3400G>T
6g.33443206C>GCA363626415SYNGAP1,SYNGAP1-AS1c.2396C>G (p.Pro799Arg)
c.2654C>G (p.Pro885Arg)
c.2612C>G (p.Pro871Arg)
c.2477C>G (p.Pro826Arg)
c.2609C>G (p.Pro870Arg)
n.329+3400G>C
 gnomAD v4
6g.33443206C>TCA363626418SYNGAP1,SYNGAP1-AS1c.2396C>T (p.Pro799Leu)
c.2654C>T (p.Pro885Leu)
c.2612C>T (p.Pro871Leu)
c.2477C>T (p.Pro826Leu)
c.2609C>T (p.Pro870Leu)
n.329+3400G>A
6g.33443207T>ACA450103797SYNGAP1,SYNGAP1-AS1c.2397T>A (p.Pro799=)
c.2655T>A (p.Pro885=)
c.2613T>A (p.Pro871=)
c.2478T>A (p.Pro826=)
c.2610T>A (p.Pro870=)
n.329+3399A>T
6g.33443207T>CCA450103798SYNGAP1,SYNGAP1-AS1c.2397T>C (p.Pro799=)
c.2655T>C (p.Pro885=)
c.2613T>C (p.Pro871=)
c.2478T>C (p.Pro826=)
c.2610T>C (p.Pro870=)
n.329+3399A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.33443207T>GCA450103799SYNGAP1,SYNGAP1-AS1c.2397T>G (p.Pro799=)
c.2655T>G (p.Pro885=)
c.2613T>G (p.Pro871=)
c.2478T>G (p.Pro826=)
c.2610T>G (p.Pro870=)
n.329+3399A>C
6g.33443207T=CA1620014539SYNGAP1,SYNGAP1-AS1c.2397T= (p.Pro799=)
c.2655T= (p.Pro885=)
c.2613T= (p.Pro871=)
c.2478T= (p.Pro826=)
c.2610T= (p.Pro870=)
n.329+3399A=
6g.33443208G>ACA363626423SYNGAP1,SYNGAP1-AS1c.2398G>A (p.Ala800Thr)
c.2656G>A (p.Ala886Thr)
c.2614G>A (p.Ala872Thr)
c.2479G>A (p.Ala827Thr)
c.2611G>A (p.Ala871Thr)
n.329+3398C>T
6g.33443208G>CCA363626428SYNGAP1,SYNGAP1-AS1c.2398G>C (p.Ala800Pro)
c.2656G>C (p.Ala886Pro)
c.2614G>C (p.Ala872Pro)
c.2479G>C (p.Ala827Pro)
c.2611G>C (p.Ala871Pro)
n.329+3398C>G
6g.33443208G>TCA363626431SYNGAP1,SYNGAP1-AS1c.2398G>T (p.Ala800Ser)
c.2656G>T (p.Ala886Ser)
c.2614G>T (p.Ala872Ser)
c.2479G>T (p.Ala827Ser)
c.2611G>T (p.Ala871Ser)
n.329+3398C>A
6g.33443209C>ACA363626436SYNGAP1,SYNGAP1-AS1c.2399C>A (p.Ala800Glu)
c.2657C>A (p.Ala886Glu)
c.2615C>A (p.Ala872Glu)
c.2480C>A (p.Ala827Glu)
c.2612C>A (p.Ala871Glu)
n.329+3397G>T
6g.33443209C=CA1620014540SYNGAP1,SYNGAP1-AS1c.2399C= (p.Ala800=)
c.2657C= (p.Ala886=)
c.2615C= (p.Ala872=)
c.2480C= (p.Ala827=)
c.2612C= (p.Ala871=)
n.329+3397G=
6g.33443209C>GCA363626446SYNGAP1,SYNGAP1-AS1c.2399C>G (p.Ala800Gly)
c.2657C>G (p.Ala886Gly)
c.2615C>G (p.Ala872Gly)
c.2480C>G (p.Ala827Gly)
c.2612C>G (p.Ala871Gly)
n.329+3397G>C
6g.33443209C>TCA3758929SYNGAP1,SYNGAP1-AS1c.2399C>T (p.Ala800Val)
c.2657C>T (p.Ala886Val)
c.2615C>T (p.Ala872Val)
c.2480C>T (p.Ala827Val)
c.2612C>T (p.Ala871Val)
n.329+3397G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6g.33443210G>ACA3758930SYNGAP1,SYNGAP1-AS1c.2400G>A (p.Ala800=)
c.2658G>A (p.Ala886=)
c.2616G>A (p.Ala872=)
c.2481G>A (p.Ala827=)
c.2613G>A (p.Ala871=)
n.329+3396C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.33443210G>CCA450103801SYNGAP1,SYNGAP1-AS1c.2400G>C (p.Ala800=)
c.2658G>C (p.Ala886=)
c.2616G>C (p.Ala872=)
c.2481G>C (p.Ala827=)
c.2613G>C (p.Ala871=)
n.329+3396C>G
6g.33443210G=CA1620014541SYNGAP1,SYNGAP1-AS1c.2400G= (p.Ala800=)
c.2658G= (p.Ala886=)
c.2616G= (p.Ala872=)
c.2481G= (p.Ala827=)
c.2613G= (p.Ala871=)
n.329+3396C=
6g.33443210G>TCA450103800SYNGAP1,SYNGAP1-AS1c.2400G>T (p.Ala800=)
c.2658G>T (p.Ala886=)
c.2616G>T (p.Ala872=)
c.2481G>T (p.Ala827=)
c.2613G>T (p.Ala871=)
n.329+3396C>A
 gnomAD v4
6g.33443211C>ACA363626462SYNGAP1,SYNGAP1-AS1c.2401C>A (p.Pro801Thr)
c.2659C>A (p.Pro887Thr)
c.2617C>A (p.Pro873Thr)
c.2482C>A (p.Pro828Thr)
c.2614C>A (p.Pro872Thr)
n.329+3395G>T
6g.33443211C=CA1620014542SYNGAP1,SYNGAP1-AS1c.2401C= (p.Pro801=)
c.2659C= (p.Pro887=)
c.2617C= (p.Pro873=)
c.2482C= (p.Pro828=)
c.2614C= (p.Pro872=)
n.329+3395G=
6g.33443211C>GCA363626461SYNGAP1,SYNGAP1-AS1c.2401C>G (p.Pro801Ala)
c.2659C>G (p.Pro887Ala)
c.2617C>G (p.Pro873Ala)
c.2482C>G (p.Pro828Ala)
c.2614C>G (p.Pro872Ala)
n.329+3395G>C
6g.33443211C>TCA363626466SYNGAP1,SYNGAP1-AS1c.2401C>T (p.Pro801Ser)
c.2659C>T (p.Pro887Ser)
c.2617C>T (p.Pro873Ser)
c.2482C>T (p.Pro828Ser)
c.2614C>T (p.Pro872Ser)
n.329+3395G>A
 dbSNP gnomAD v2
6g.33443212C>ACA363626470SYNGAP1,SYNGAP1-AS1c.2402C>A (p.Pro801His)
c.2660C>A (p.Pro887His)
c.2618C>A (p.Pro873His)
c.2483C>A (p.Pro828His)
c.2615C>A (p.Pro872His)
n.329+3394G>T
6g.33443212C=CA1620014543SYNGAP1,SYNGAP1-AS1c.2402C= (p.Pro801=)
c.2660C= (p.Pro887=)
c.2618C= (p.Pro873=)
c.2483C= (p.Pro828=)
c.2615C= (p.Pro872=)
n.329+3394G=
6g.33443212C>GCA363626476SYNGAP1,SYNGAP1-AS1c.2402C>G (p.Pro801Arg)
c.2660C>G (p.Pro887Arg)
c.2618C>G (p.Pro873Arg)
c.2483C>G (p.Pro828Arg)
c.2615C>G (p.Pro872Arg)
n.329+3394G>C
6g.33443212C>TCA363626473SYNGAP1,SYNGAP1-AS1c.2402C>T (p.Pro801Leu)
c.2660C>T (p.Pro887Leu)
c.2618C>T (p.Pro873Leu)
c.2483C>T (p.Pro828Leu)
c.2615C>T (p.Pro872Leu)
n.329+3394G>A
 dbSNP
6g.33443213T>ACA450103802SYNGAP1,SYNGAP1-AS1c.2403T>A (p.Pro801=)
c.2661T>A (p.Pro887=)
c.2619T>A (p.Pro873=)
c.2484T>A (p.Pro828=)
c.2616T>A (p.Pro872=)
n.329+3393A>T
6g.33443213T>CCA450103803SYNGAP1,SYNGAP1-AS1c.2403T>C (p.Pro801=)
c.2661T>C (p.Pro887=)
c.2619T>C (p.Pro873=)
c.2484T>C (p.Pro828=)
c.2616T>C (p.Pro872=)
n.329+3393A>G
6g.33443213T>GCA450103804SYNGAP1,SYNGAP1-AS1c.2403T>G (p.Pro801=)
c.2661T>G (p.Pro887=)
c.2619T>G (p.Pro873=)
c.2484T>G (p.Pro828=)
c.2616T>G (p.Pro872=)
n.329+3393A>C
6g.33443214G>ACA363626481SYNGAP1,SYNGAP1-AS1c.2404G>A (p.Ala802Thr)
c.2662G>A (p.Ala888Thr)
c.2620G>A (p.Ala874Thr)
c.2485G>A (p.Ala829Thr)
c.2617G>A (p.Ala873Thr)
n.329+3392C>T
 gnomAD v4
6g.33443214G>CCA363626496SYNGAP1,SYNGAP1-AS1c.2404G>C (p.Ala802Pro)
c.2662G>C (p.Ala888Pro)
c.2620G>C (p.Ala874Pro)
c.2485G>C (p.Ala829Pro)
c.2617G>C (p.Ala873Pro)
n.329+3392C>G
 gnomAD v4
6g.33443214G>TCA363626485SYNGAP1,SYNGAP1-AS1c.2404G>T (p.Ala802Ser)
c.2662G>T (p.Ala888Ser)
c.2620G>T (p.Ala874Ser)
c.2485G>T (p.Ala829Ser)
c.2617G>T (p.Ala873Ser)
n.329+3392C>A
6g.33443215C>ACA363626498SYNGAP1,SYNGAP1-AS1c.2405C>A (p.Ala802Asp)
c.2663C>A (p.Ala888Asp)
c.2621C>A (p.Ala874Asp)
c.2486C>A (p.Ala829Asp)
c.2618C>A (p.Ala873Asp)
n.329+3391G>T
6g.33443215C=CA1620014544SYNGAP1,SYNGAP1-AS1c.2405C= (p.Ala802=)
c.2663C= (p.Ala888=)
c.2621C= (p.Ala874=)
c.2486C= (p.Ala829=)
c.2618C= (p.Ala873=)
n.329+3391G=
6g.33443215C>GCA3758931SYNGAP1,SYNGAP1-AS1c.2405C>G (p.Ala802Gly)
c.2663C>G (p.Ala888Gly)
c.2621C>G (p.Ala874Gly)
c.2486C>G (p.Ala829Gly)
c.2618C>G (p.Ala873Gly)
n.329+3391G>C
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.33443215C>TCA363626502SYNGAP1,SYNGAP1-AS1c.2405C>T (p.Ala802Val)
c.2663C>T (p.Ala888Val)
c.2621C>T (p.Ala874Val)
c.2486C>T (p.Ala829Val)
c.2618C>T (p.Ala873Val)
n.329+3391G>A
 dbSNP gnomAD v3 gnomAD v4
6g.33443216C>ACA450103805SYNGAP1,SYNGAP1-AS1c.2406C>A (p.Ala802=)
c.2664C>A (p.Ala888=)
c.2622C>A (p.Ala874=)
c.2487C>A (p.Ala829=)
c.2619C>A (p.Ala873=)
n.329+3390G>T
6g.33443216C=CA1620014545SYNGAP1,SYNGAP1-AS1c.2406C= (p.Ala802=)
c.2664C= (p.Ala888=)
c.2622C= (p.Ala874=)
c.2487C= (p.Ala829=)
c.2619C= (p.Ala873=)
n.329+3390G=
6g.33443216C>GCA450103806SYNGAP1,SYNGAP1-AS1c.2406C>G (p.Ala802=)
c.2664C>G (p.Ala888=)
c.2622C>G (p.Ala874=)
c.2487C>G (p.Ala829=)
c.2619C>G (p.Ala873=)
n.329+3390G>C
6g.33443216C>TCA3758932SYNGAP1,SYNGAP1-AS1c.2406C>T (p.Ala802=)
c.2664C>T (p.Ala888=)
c.2622C>T (p.Ala874=)
c.2487C>T (p.Ala829=)
c.2619C>T (p.Ala873=)
n.329+3390G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.33443217G>ACA363626507SYNGAP1,SYNGAP1-AS1c.2407G>A (p.Gly803Arg)
c.2665G>A (p.Gly889Arg)
c.2623G>A (p.Gly875Arg)
c.2488G>A (p.Gly830Arg)
c.2620G>A (p.Gly874Arg)
n.329+3389C>T
 gnomAD v4
6g.33443217G>CCA363626503SYNGAP1,SYNGAP1-AS1c.2407G>C (p.Gly803Arg)
c.2665G>C (p.Gly889Arg)
c.2623G>C (p.Gly875Arg)
c.2488G>C (p.Gly830Arg)
c.2620G>C (p.Gly874Arg)
n.329+3389C>G
6g.33443217G>TCA363626505SYNGAP1,SYNGAP1-AS1c.2407G>T (p.Gly803Ter)
c.2665G>T (p.Gly889Ter)
c.2623G>T (p.Gly875Ter)
c.2488G>T (p.Gly830Ter)
c.2620G>T (p.Gly874Ter)
n.329+3389C>A
6g.33443218G>ACA363626516SYNGAP1,SYNGAP1-AS1c.2408G>A (p.Gly803Glu)
c.2666G>A (p.Gly889Glu)
c.2624G>A (p.Gly875Glu)
c.2489G>A (p.Gly830Glu)
c.2621G>A (p.Gly874Glu)
n.329+3388C>T
6g.33443218G>CCA363626517SYNGAP1,SYNGAP1-AS1c.2408G>C (p.Gly803Ala)
c.2666G>C (p.Gly889Ala)
c.2624G>C (p.Gly875Ala)
c.2489G>C (p.Gly830Ala)
c.2621G>C (p.Gly874Ala)
n.329+3388C>G
 gnomAD v4
6g.33443218G>TCA363626521SYNGAP1,SYNGAP1-AS1c.2408G>T (p.Gly803Val)
c.2666G>T (p.Gly889Val)
c.2624G>T (p.Gly875Val)
c.2489G>T (p.Gly830Val)
c.2621G>T (p.Gly874Val)
n.329+3388C>A
6g.33443218_33443219insGGCTGGAAATCGAGCCTGCA2528917257SYNGAP1,SYNGAP1-AS1c.2408_2409insGGCTGGAAATCGAGCCTG (p.Gly804AlafsTer6)
c.2666_2667insGGCTGGAAATCGAGCCTG (p.Gly890AlafsTer6)
c.2624_2625insGGCTGGAAATCGAGCCTG (p.Gly876AlafsTer6)
c.2489_2490insGGCTGGAAATCGAGCCTG (p.Gly831AlafsTer6)
c.2621_2622insGGCTGGAAATCGAGCCTG (p.Gly875AlafsTer6)
n.329+3388_329+3389insAGGCTCGATTTCCAGCCC
6g.33443219delCA2580074380SYNGAP1,SYNGAP1-AS1c.2409del (p.Arg804AlafsTer?)
c.2667del (p.Arg890AlafsTer?)
c.2625del (p.Arg876AlafsTer?)
c.2490del (p.Arg831AlafsTer?)
c.2622del (p.Arg875AlafsTer?)
n.329+3387del
 ClinVar
6g.33443219A=CA1620014546SYNGAP1,SYNGAP1-AS1c.2409A= (p.Gly803=)
c.2667A= (p.Gly889=)
c.2625A= (p.Gly875=)
c.2490A= (p.Gly830=)
c.2622A= (p.Gly874=)
n.329+3387T=
6g.33443219A>CCA3758933SYNGAP1,SYNGAP1-AS1c.2409A>C (p.Gly803=)
c.2667A>C (p.Gly889=)
c.2625A>C (p.Gly875=)
c.2490A>C (p.Gly830=)
c.2622A>C (p.Gly874=)
n.329+3387T>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.33443219A>GCA450103807SYNGAP1,SYNGAP1-AS1c.2409A>G (p.Gly803=)
c.2667A>G (p.Gly889=)
c.2625A>G (p.Gly875=)
c.2490A>G (p.Gly830=)
c.2622A>G (p.Gly874=)
n.329+3387T>C
 dbSNP
6g.33443219A>TCA450103808SYNGAP1,SYNGAP1-AS1c.2409A>T (p.Gly803=)
c.2667A>T (p.Gly889=)
c.2625A>T (p.Gly875=)
c.2490A>T (p.Gly830=)
c.2622A>T (p.Gly874=)
n.329+3387T>A
6g.33443220C>ACA363626528SYNGAP1,SYNGAP1-AS1c.2410C>A (p.Arg804Ser)
c.2668C>A (p.Arg890Ser)
c.2626C>A (p.Arg876Ser)
c.2491C>A (p.Arg831Ser)
c.2623C>A (p.Arg875Ser)
n.329+3386G>T
6g.33443220C=CA1620014547SYNGAP1,SYNGAP1-AS1c.2410C= (p.Arg804=)
c.2668C= (p.Arg890=)
c.2626C= (p.Arg876=)
c.2491C= (p.Arg831=)
c.2623C= (p.Arg875=)
n.329+3386G=
6g.33443220C>GCA363626537SYNGAP1,SYNGAP1-AS1c.2410C>G (p.Arg804Gly)
c.2668C>G (p.Arg890Gly)
c.2626C>G (p.Arg876Gly)
c.2491C>G (p.Arg831Gly)
c.2623C>G (p.Arg875Gly)
n.329+3386G>C
6g.33443220C>TCA363626538SYNGAP1,SYNGAP1-AS1c.2410C>T (p.Arg804Cys)
c.2668C>T (p.Arg890Cys)
c.2626C>T (p.Arg876Cys)
c.2491C>T (p.Arg831Cys)
c.2623C>T (p.Arg875Cys)
n.329+3386G>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
6g.33443220_33443221insAGCGGCGCAGCGCACAAGCTGCGCTGCCTGCGGGCGCTGGCGCTGTGCTGAGAGACTGCCGCCCGTTCCGGTTTTCAGGCTTTCGCCCCGCAGGGCCAGACTCTGAACAGCA2515830734SYNGAP1,SYNGAP1-AS1c.2410_2411insAGCGGCGCAGCGCACAAGCTGCGCTGCCTGCGGGCGCTGGCGCTGTGCTGAGAGACTGCCGCCCGTTCCGGTTTTCAGGCTTTCGCCCCGCAGGGCCAGACTCTGAACAG (p.Arg804GlnfsTer?)
c.2668_2669insAGCGGCGCAGCGCACAAGCTGCGCTGCCTGCGGGCGCTGGCGCTGTGCTGAGAGACTGCCGCCCGTTCCGGTTTTCAGGCTTTCGCCCCGCAGGGCCAGACTCTGAACAG (p.Arg890GlnfsTer?)
c.2626_2627insAGCGGCGCAGCGCACAAGCTGCGCTGCCTGCGGGCGCTGGCGCTGTGCTGAGAGACTGCCGCCCGTTCCGGTTTTCAGGCTTTCGCCCCGCAGGGCCAGACTCTGAACAG (p.Arg876GlnfsTer?)
c.2491_2492insAGCGGCGCAGCGCACAAGCTGCGCTGCCTGCGGGCGCTGGCGCTGTGCTGAGAGACTGCCGCCCGTTCCGGTTTTCAGGCTTTCGCCCCGCAGGGCCAGACTCTGAACAG (p.Arg831GlnfsTer?)
c.2623_2624insAGCGGCGCAGCGCACAAGCTGCGCTGCCTGCGGGCGCTGGCGCTGTGCTGAGAGACTGCCGCCCGTTCCGGTTTTCAGGCTTTCGCCCCGCAGGGCCAGACTCTGAACAG (p.Arg875GlnfsTer?)
n.329+3385_329+3386insCTGTTCAGAGTCTGGCCCTGCGGGGCGAAAGCCTGAAAACCGGAACGGGCGGCAGTCTCTCAGCACAGCGCCAGCGCCCGCAGGCAGCGCAGCTTGTGCGCTGCGCCGCT
6g.33443221G>ACA3758934SYNGAP1,SYNGAP1-AS1c.2411G>A (p.Arg804His)
c.2669G>A (p.Arg890His)
c.2627G>A (p.Arg876His)
c.2492G>A (p.Arg831His)
c.2624G>A (p.Arg875His)
n.329+3385C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.33443221G>CCA3758935SYNGAP1,SYNGAP1-AS1c.2411G>C (p.Arg804Pro)
c.2669G>C (p.Arg890Pro)
c.2627G>C (p.Arg876Pro)
c.2492G>C (p.Arg831Pro)
c.2624G>C (p.Arg875Pro)
n.329+3385C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.33443221G=CA1620014548SYNGAP1,SYNGAP1-AS1c.2411G= (p.Arg804=)
c.2669G= (p.Arg890=)
c.2627G= (p.Arg876=)
c.2492G= (p.Arg831=)
c.2624G= (p.Arg875=)
n.329+3385C=
6g.33443221G>TCA363626548SYNGAP1,SYNGAP1-AS1c.2411G>T (p.Arg804Leu)
c.2669G>T (p.Arg890Leu)
c.2627G>T (p.Arg876Leu)
c.2492G>T (p.Arg831Leu)
c.2624G>T (p.Arg875Leu)
n.329+3385C>A
6g.33443222C>ACA450103809SYNGAP1,SYNGAP1-AS1c.2412C>A (p.Arg804=)
c.2670C>A (p.Arg890=)
c.2628C>A (p.Arg876=)
c.2493C>A (p.Arg831=)
c.2625C>A (p.Arg875=)
n.329+3384G>T
6g.33443222C=CA1620014549SYNGAP1,SYNGAP1-AS1c.2412C= (p.Arg804=)
c.2670C= (p.Arg890=)
c.2628C= (p.Arg876=)
c.2493C= (p.Arg831=)
c.2625C= (p.Arg875=)
n.329+3384G=
6g.33443222C>GCA450103810SYNGAP1,SYNGAP1-AS1c.2412C>G (p.Arg804=)
c.2670C>G (p.Arg890=)
c.2628C>G (p.Arg876=)
c.2493C>G (p.Arg831=)
c.2625C>G (p.Arg875=)
n.329+3384G>C
6g.33443222C>TCA450103811SYNGAP1,SYNGAP1-AS1c.2412C>T (p.Arg804=)
c.2670C>T (p.Arg890=)
c.2628C>T (p.Arg876=)
c.2493C>T (p.Arg831=)
c.2625C>T (p.Arg875=)
n.329+3384G>A
 dbSNP gnomAD v4
6g.33443223C>ACA363626558SYNGAP1,SYNGAP1-AS1c.2413C>A (p.Leu805Ile)
c.2671C>A (p.Leu891Ile)
c.2629C>A (p.Leu877Ile)
c.2494C>A (p.Leu832Ile)
c.2626C>A (p.Leu876Ile)
n.329+3383G>T
6g.33443223C>GCA363626557SYNGAP1,SYNGAP1-AS1c.2413C>G (p.Leu805Val)
c.2671C>G (p.Leu891Val)
c.2629C>G (p.Leu877Val)
c.2494C>G (p.Leu832Val)
c.2626C>G (p.Leu876Val)
n.329+3383G>C
6g.33443223C>TCA363626554SYNGAP1,SYNGAP1-AS1c.2413C>T (p.Leu805Phe)
c.2671C>T (p.Leu891Phe)
c.2629C>T (p.Leu877Phe)
c.2494C>T (p.Leu832Phe)
c.2626C>T (p.Leu876Phe)
n.329+3383G>A
6g.33443224T>ACA363626564SYNGAP1,SYNGAP1-AS1c.2414T>A (p.Leu805His)
c.2672T>A (p.Leu891His)
c.2630T>A (p.Leu877His)
c.2495T>A (p.Leu832His)
c.2627T>A (p.Leu876His)
n.329+3382A>T
6g.33443224T>CCA363626565SYNGAP1,SYNGAP1-AS1c.2414T>C (p.Leu805Pro)
c.2672T>C (p.Leu891Pro)
c.2630T>C (p.Leu877Pro)
c.2495T>C (p.Leu832Pro)
c.2627T>C (p.Leu876Pro)
n.329+3382A>G
6g.33443224T>GCA363626567SYNGAP1,SYNGAP1-AS1c.2414T>G (p.Leu805Arg)
c.2672T>G (p.Leu891Arg)
c.2630T>G (p.Leu877Arg)
c.2495T>G (p.Leu832Arg)
c.2627T>G (p.Leu876Arg)
n.329+3382A>C
6g.33443225C>ACA450103812SYNGAP1,SYNGAP1-AS1c.2415C>A (p.Leu805=)
c.2673C>A (p.Leu891=)
c.2631C>A (p.Leu877=)
c.2496C>A (p.Leu832=)
c.2628C>A (p.Leu876=)
n.329+3381G>T
6g.33443225C>GCA450103813SYNGAP1,SYNGAP1-AS1c.2415C>G (p.Leu805=)
c.2673C>G (p.Leu891=)
c.2631C>G (p.Leu877=)
c.2496C>G (p.Leu832=)
c.2628C>G (p.Leu876=)
n.329+3381G>C
6g.33443225C>TCA450103814SYNGAP1,SYNGAP1-AS1c.2415C>T (p.Leu805=)
c.2673C>T (p.Leu891=)
c.2631C>T (p.Leu877=)
c.2496C>T (p.Leu832=)
c.2628C>T (p.Leu876=)
n.329+3381G>A
 gnomAD v4
6g.33443226T>ACA363626569SYNGAP1,SYNGAP1-AS1c.2416T>A (p.Ser806Thr)
c.2674T>A (p.Ser892Thr)
c.2632T>A (p.Ser878Thr)
c.2497T>A (p.Ser833Thr)
c.2629T>A (p.Ser877Thr)
n.329+3380A>T
6g.33443226T>CCA363626573SYNGAP1,SYNGAP1-AS1c.2416T>C (p.Ser806Pro)
c.2674T>C (p.Ser892Pro)
c.2632T>C (p.Ser878Pro)
c.2497T>C (p.Ser833Pro)
c.2629T>C (p.Ser877Pro)
n.329+3380A>G
 gnomAD v4
6g.33443226T>GCA363626576SYNGAP1,SYNGAP1-AS1c.2416T>G (p.Ser806Ala)
c.2674T>G (p.Ser892Ala)
c.2632T>G (p.Ser878Ala)
c.2497T>G (p.Ser833Ala)
c.2629T>G (p.Ser877Ala)
n.329+3380A>C
6g.33443226_33443227delinsTCCA1620014550SYNGAP1,SYNGAP1-AS1c.2416_2417delinsTC (p.Ser806=)
c.2674_2675delinsTC (p.Ser892=)
c.2632_2633delinsTC (p.Ser878=)
c.2497_2498delinsTC (p.Ser833=)
c.2629_2630delinsTC (p.Ser877=)
n.329+3379_329+3380delinsGA
6g.33443227C>ACA363626580SYNGAP1,SYNGAP1-AS1c.2417C>A (p.Ser806Tyr)
c.2675C>A (p.Ser892Tyr)
c.2633C>A (p.Ser878Tyr)
c.2498C>A (p.Ser833Tyr)
c.2630C>A (p.Ser877Tyr)
n.329+3379G>T
6g.33443227C>GCA363626582SYNGAP1,SYNGAP1-AS1c.2417C>G (p.Ser806Cys)
c.2675C>G (p.Ser892Cys)
c.2633C>G (p.Ser878Cys)
c.2498C>G (p.Ser833Cys)
c.2630C>G (p.Ser877Cys)
n.329+3379G>C
6g.33443227C>TCA363626585SYNGAP1,SYNGAP1-AS1c.2417C>T (p.Ser806Phe)
c.2675C>T (p.Ser892Phe)
c.2633C>T (p.Ser878Phe)
c.2498C>T (p.Ser833Phe)
c.2630C>T (p.Ser877Phe)
n.329+3379G>A
6g.33443229delCA913185042SYNGAP1,SYNGAP1-AS1c.2419del (p.Gln807ArgfsTer?)
c.2677del (p.Gln893ArgfsTer?)
c.2635del (p.Gln879ArgfsTer?)
c.2500del (p.Gln834ArgfsTer?)
c.2632del (p.Gln878ArgfsTer?)
n.329+3379del
 ClinVar dbSNP
6g.33443228C>ACA450103815SYNGAP1,SYNGAP1-AS1c.2418C>A (p.Ser806=)
c.2676C>A (p.Ser892=)
c.2634C>A (p.Ser878=)
c.2499C>A (p.Ser833=)
c.2631C>A (p.Ser877=)
n.329+3378G>T
6g.33443228C=CA1620014551SYNGAP1,SYNGAP1-AS1c.2418C= (p.Ser806=)
c.2676C= (p.Ser892=)
c.2634C= (p.Ser878=)
c.2499C= (p.Ser833=)
c.2631C= (p.Ser877=)
n.329+3378G=
6g.33443228C>GCA450103816SYNGAP1,SYNGAP1-AS1c.2418C>G (p.Ser806=)
c.2676C>G (p.Ser892=)
c.2634C>G (p.Ser878=)
c.2499C>G (p.Ser833=)
c.2631C>G (p.Ser877=)
n.329+3378G>C
6g.33443228C>TCA450103817SYNGAP1,SYNGAP1-AS1c.2418C>T (p.Ser806=)
c.2676C>T (p.Ser892=)
c.2634C>T (p.Ser878=)
c.2499C>T (p.Ser833=)
c.2631C>T (p.Ser877=)
n.329+3378G>A
 dbSNP
6g.33443229C>ACA363626592SYNGAP1,SYNGAP1-AS1c.2419C>A (p.Gln807Lys)
c.2677C>A (p.Gln893Lys)
c.2635C>A (p.Gln879Lys)
c.2500C>A (p.Gln834Lys)
c.2632C>A (p.Gln878Lys)
n.329+3377G>T
6g.33443229C=CA1620014552SYNGAP1,SYNGAP1-AS1c.2419C= (p.Gln807=)
c.2677C= (p.Gln893=)
c.2635C= (p.Gln879=)
c.2500C= (p.Gln834=)
c.2632C= (p.Gln878=)
n.329+3377G=
6g.33443229C>GCA363626597SYNGAP1,SYNGAP1-AS1c.2419C>G (p.Gln807Glu)
c.2677C>G (p.Gln893Glu)
c.2635C>G (p.Gln879Glu)
c.2500C>G (p.Gln834Glu)
c.2632C>G (p.Gln878Glu)
n.329+3377G>C
6g.33443229C>TCA363626599SYNGAP1,SYNGAP1-AS1c.2419C>T (p.Gln807Ter)
c.2677C>T (p.Gln893Ter)
c.2635C>T (p.Gln879Ter)
c.2500C>T (p.Gln834Ter)
c.2632C>T (p.Gln878Ter)
n.329+3377G>A
 dbSNP
6g.33443230A>CCA363626603SYNGAP1,SYNGAP1-AS1c.2420A>C (p.Gln807Pro)
c.2678A>C (p.Gln893Pro)
c.2636A>C (p.Gln879Pro)
c.2501A>C (p.Gln834Pro)
c.2633A>C (p.Gln878Pro)
n.329+3376T>G
 gnomAD v4
6g.33443230A>GCA363626606SYNGAP1,SYNGAP1-AS1c.2420A>G (p.Gln807Arg)
c.2678A>G (p.Gln893Arg)
c.2636A>G (p.Gln879Arg)
c.2501A>G (p.Gln834Arg)
c.2633A>G (p.Gln878Arg)
n.329+3376T>C
6g.33443230A>TCA363626604SYNGAP1,SYNGAP1-AS1c.2420A>T (p.Gln807Leu)
c.2678A>T (p.Gln893Leu)
c.2636A>T (p.Gln879Leu)
c.2501A>T (p.Gln834Leu)
c.2633A>T (p.Gln878Leu)
n.329+3376T>A
6g.33443231G>ACA450103818SYNGAP1,SYNGAP1-AS1c.2421G>A (p.Gln807=)
c.2679G>A (p.Gln893=)
c.2637G>A (p.Gln879=)
c.2502G>A (p.Gln834=)
c.2634G>A (p.Gln878=)
n.329+3375C>T
6g.33443231G>CCA363626607SYNGAP1,SYNGAP1-AS1c.2421G>C (p.Gln807His)
c.2679G>C (p.Gln893His)
c.2637G>C (p.Gln879His)
c.2502G>C (p.Gln834His)
c.2634G>C (p.Gln878His)
n.329+3375C>G
6g.33443231G>TCA363626608SYNGAP1,SYNGAP1-AS1c.2421G>T (p.Gln807His)
c.2679G>T (p.Gln893His)
c.2637G>T (p.Gln879His)
c.2502G>T (p.Gln834His)
c.2634G>T (p.Gln878His)
n.329+3375C>A
6g.33443234delCA2678275910SYNGAP1,SYNGAP1-AS1c.2424del (p.Ser809ValfsTer?)
c.2682del (p.Ser895ValfsTer?)
c.2640del (p.Ser881ValfsTer?)
c.2505del (p.Ser836ValfsTer?)
c.2637del (p.Ser880ValfsTer?)
n.329+3375del
 gnomAD v4
6g.33443232G>ACA363626609SYNGAP1,SYNGAP1-AS1c.2422G>A (p.Gly808Arg)
c.2680G>A (p.Gly894Arg)
c.2638G>A (p.Gly880Arg)
c.2503G>A (p.Gly835Arg)
c.2635G>A (p.Gly879Arg)
n.329+3374C>T
6g.33443232G>CCA363626610SYNGAP1,SYNGAP1-AS1c.2422G>C (p.Gly808Arg)
c.2680G>C (p.Gly894Arg)
c.2638G>C (p.Gly880Arg)
c.2503G>C (p.Gly835Arg)
c.2635G>C (p.Gly879Arg)
n.329+3374C>G
6g.33443232G>TCA363626612SYNGAP1,SYNGAP1-AS1c.2422G>T (p.Gly808Trp)
c.2680G>T (p.Gly894Trp)
c.2638G>T (p.Gly880Trp)
c.2503G>T (p.Gly835Trp)
c.2635G>T (p.Gly879Trp)
n.329+3374C>A
6g.33443233G>ACA363626615SYNGAP1,SYNGAP1-AS1c.2423G>A (p.Gly808Glu)
c.2681G>A (p.Gly894Glu)
c.2639G>A (p.Gly880Glu)
c.2504G>A (p.Gly835Glu)
c.2636G>A (p.Gly879Glu)
n.329+3373C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
6g.33443233G>CCA363626618SYNGAP1,SYNGAP1-AS1c.2423G>C (p.Gly808Ala)
c.2681G>C (p.Gly894Ala)
c.2639G>C (p.Gly880Ala)
c.2504G>C (p.Gly835Ala)
c.2636G>C (p.Gly879Ala)
n.329+3373C>G
 gnomAD v4
6g.33443233G=CA1620014553SYNGAP1,SYNGAP1-AS1c.2423G= (p.Gly808=)
c.2681G= (p.Gly894=)
c.2639G= (p.Gly880=)
c.2504G= (p.Gly835=)
c.2636G= (p.Gly879=)
n.329+3373C=
6g.33443233G>TCA363626620SYNGAP1,SYNGAP1-AS1c.2423G>T (p.Gly808Val)
c.2681G>T (p.Gly894Val)
c.2639G>T (p.Gly880Val)
c.2504G>T (p.Gly835Val)
c.2636G>T (p.Gly879Val)
n.329+3373C>A
6g.33443234G>ACA450103821SYNGAP1,SYNGAP1-AS1c.2424G>A (p.Gly808=)
c.2682G>A (p.Gly894=)
c.2640G>A (p.Gly880=)
c.2505G>A (p.Gly835=)
c.2637G>A (p.Gly879=)
n.329+3372C>T
 gnomAD v4
6g.33443234G>CCA450103820SYNGAP1,SYNGAP1-AS1c.2424G>C (p.Gly808=)
c.2682G>C (p.Gly894=)
c.2640G>C (p.Gly880=)
c.2505G>C (p.Gly835=)
c.2637G>C (p.Gly879=)
n.329+3372C>G
6g.33443234G>TCA450103819SYNGAP1,SYNGAP1-AS1c.2424G>T (p.Gly808=)
c.2682G>T (p.Gly894=)
c.2640G>T (p.Gly880=)
c.2505G>T (p.Gly835=)
c.2637G>T (p.Gly879=)
n.329+3372C>A
 gnomAD v4
6g.33443235A>CCA363626623SYNGAP1,SYNGAP1-AS1c.2425A>C (p.Ser809Arg)
c.2683A>C (p.Ser895Arg)
c.2641A>C (p.Ser881Arg)
c.2506A>C (p.Ser836Arg)
c.2638A>C (p.Ser880Arg)
n.329+3371T>G
 gnomAD v4
6g.33443235A>GCA363626624SYNGAP1,SYNGAP1-AS1c.2425A>G (p.Ser809Gly)
c.2683A>G (p.Ser895Gly)
c.2641A>G (p.Ser881Gly)
c.2506A>G (p.Ser836Gly)
c.2638A>G (p.Ser880Gly)
n.329+3371T>C
6g.33443235A>TCA363626625SYNGAP1,SYNGAP1-AS1c.2425A>T (p.Ser809Cys)
c.2683A>T (p.Ser895Cys)
c.2641A>T (p.Ser881Cys)
c.2506A>T (p.Ser836Cys)
c.2638A>T (p.Ser880Cys)
n.329+3371T>A
6g.33443236G>ACA363626633SYNGAP1,SYNGAP1-AS1c.2426G>A (p.Ser809Asn)
c.2684G>A (p.Ser895Asn)
c.2642G>A (p.Ser881Asn)
c.2507G>A (p.Ser836Asn)
c.2639G>A (p.Ser880Asn)
n.329+3370C>T
 ClinVar
6g.33443236G>CCA363626627SYNGAP1,SYNGAP1-AS1c.2426G>C (p.Ser809Thr)
c.2684G>C (p.Ser895Thr)
c.2642G>C (p.Ser881Thr)
c.2507G>C (p.Ser836Thr)
c.2639G>C (p.Ser880Thr)
n.329+3370C>G
 gnomAD v4
6g.33443236G>TCA363626630SYNGAP1,SYNGAP1-AS1c.2426G>T (p.Ser809Ile)
c.2684G>T (p.Ser895Ile)
c.2642G>T (p.Ser881Ile)
c.2507G>T (p.Ser836Ile)
c.2639G>T (p.Ser880Ile)
n.329+3370C>A
6g.33443237T>ACA363626635SYNGAP1,SYNGAP1-AS1c.2427T>A (p.Ser809Arg)
c.2685T>A (p.Ser895Arg)
c.2643T>A (p.Ser881Arg)
c.2508T>A (p.Ser836Arg)
c.2640T>A (p.Ser880Arg)
n.329+3369A>T
6g.33443237T>CCA450103822SYNGAP1,SYNGAP1-AS1c.2427T>C (p.Ser809=)
c.2685T>C (p.Ser895=)
c.2643T>C (p.Ser881=)
c.2508T>C (p.Ser836=)
c.2640T>C (p.Ser880=)
n.329+3369A>G
 gnomAD v4
6g.33443237T>GCA363626636SYNGAP1,SYNGAP1-AS1c.2427T>G (p.Ser809Arg)
c.2685T>G (p.Ser895Arg)
c.2643T>G (p.Ser881Arg)
c.2508T>G (p.Ser836Arg)
c.2640T>G (p.Ser880Arg)
n.329+3369A>C
6g.33443238G>ACA363626639SYNGAP1,SYNGAP1-AS1c.2428G>A (p.Gly810Ser)
c.2686G>A (p.Gly896Ser)
c.2644G>A (p.Gly882Ser)
c.2509G>A (p.Gly837Ser)
c.2641G>A (p.Gly881Ser)
n.329+3368C>T
6g.33443238G>CCA363626641SYNGAP1,SYNGAP1-AS1c.2428G>C (p.Gly810Arg)
c.2686G>C (p.Gly896Arg)
c.2644G>C (p.Gly882Arg)
c.2509G>C (p.Gly837Arg)
c.2641G>C (p.Gly881Arg)
n.329+3368C>G
6g.33443238G>TCA363626643SYNGAP1,SYNGAP1-AS1c.2428G>T (p.Gly810Cys)
c.2686G>T (p.Gly896Cys)
c.2644G>T (p.Gly882Cys)
c.2509G>T (p.Gly837Cys)
c.2641G>T (p.Gly881Cys)
n.329+3368C>A
6g.33443239G>ACA363626645SYNGAP1,SYNGAP1-AS1c.2429G>A (p.Gly810Asp)
c.2687G>A (p.Gly896Asp)
c.2645G>A (p.Gly882Asp)
c.2510G>A (p.Gly837Asp)
c.2642G>A (p.Gly881Asp)
n.329+3367C>T
 dbSNP gnomAD v2
6g.33443239G>CCA363626646SYNGAP1,SYNGAP1-AS1c.2429G>C (p.Gly810Ala)
c.2687G>C (p.Gly896Ala)
c.2645G>C (p.Gly882Ala)
c.2510G>C (p.Gly837Ala)
c.2642G>C (p.Gly881Ala)
n.329+3367C>G
6g.33443239G=CA1620014554SYNGAP1,SYNGAP1-AS1c.2429G= (p.Gly810=)
c.2687G= (p.Gly896=)
c.2645G= (p.Gly882=)
c.2510G= (p.Gly837=)
c.2642G= (p.Gly881=)
n.329+3367C=
6g.33443239G>TCA363626649SYNGAP1,SYNGAP1-AS1c.2429G>T (p.Gly810Val)
c.2687G>T (p.Gly896Val)
c.2645G>T (p.Gly882Val)
c.2510G>T (p.Gly837Val)
c.2642G>T (p.Gly881Val)
n.329+3367C>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.33443240C>ACA450103823SYNGAP1,SYNGAP1-AS1c.2430C>A (p.Gly810=)
c.2688C>A (p.Gly896=)
c.2646C>A (p.Gly882=)
c.2511C>A (p.Gly837=)
c.2643C>A (p.Gly881=)
n.329+3366G>T
6g.33443240C>GCA450103824SYNGAP1,SYNGAP1-AS1c.2430C>G (p.Gly810=)
c.2688C>G (p.Gly896=)
c.2646C>G (p.Gly882=)
c.2511C>G (p.Gly837=)
c.2643C>G (p.Gly881=)
n.329+3366G>C
6g.33443240C>TCA450103825SYNGAP1,SYNGAP1-AS1c.2430C>T (p.Gly810=)
c.2688C>T (p.Gly896=)
c.2646C>T (p.Gly882=)
c.2511C>T (p.Gly837=)
c.2643C>T (p.Gly881=)
n.329+3366G>A
6g.33443241T>ACA363626653SYNGAP1,SYNGAP1-AS1c.2431T>A (p.Ser811Thr)
c.2689T>A (p.Ser897Thr)
c.2647T>A (p.Ser883Thr)
c.2512T>A (p.Ser838Thr)
c.2644T>A (p.Ser882Thr)
n.329+3365A>T
6g.33443241T>CCA363626655SYNGAP1,SYNGAP1-AS1c.2431T>C (p.Ser811Pro)
c.2689T>C (p.Ser897Pro)
c.2647T>C (p.Ser883Pro)
c.2512T>C (p.Ser838Pro)
c.2644T>C (p.Ser882Pro)
n.329+3365A>G
6g.33443241T>GCA363626657SYNGAP1,SYNGAP1-AS1c.2431T>G (p.Ser811Ala)
c.2689T>G (p.Ser897Ala)
c.2647T>G (p.Ser883Ala)
c.2512T>G (p.Ser838Ala)
c.2644T>G (p.Ser882Ala)
n.329+3365A>C
6g.33443242C>ACA363626662SYNGAP1,SYNGAP1-AS1c.2432C>A (p.Ser811Ter)
c.2690C>A (p.Ser897Ter)
c.2648C>A (p.Ser883Ter)
c.2513C>A (p.Ser838Ter)
c.2645C>A (p.Ser882Ter)
n.329+3364G>T
6g.33443242C>GCA363626663SYNGAP1,SYNGAP1-AS1c.2432C>G (p.Ser811Ter)
c.2690C>G (p.Ser897Ter)
c.2648C>G (p.Ser883Ter)
c.2513C>G (p.Ser838Ter)
c.2645C>G (p.Ser882Ter)
n.329+3364G>C
6g.33443242C>TCA363626660SYNGAP1,SYNGAP1-AS1c.2432C>T (p.Ser811Leu)
c.2690C>T (p.Ser897Leu)
c.2648C>T (p.Ser883Leu)
c.2513C>T (p.Ser838Leu)
c.2645C>T (p.Ser882Leu)
n.329+3364G>A
6g.33443243A>CCA450103826SYNGAP1,SYNGAP1-AS1c.2433A>C (p.Ser811=)
c.2691A>C (p.Ser897=)
c.2649A>C (p.Ser883=)
c.2514A>C (p.Ser838=)
c.2646A>C (p.Ser882=)
n.329+3363T>G
6g.33443243A>GCA450103827SYNGAP1,SYNGAP1-AS1c.2433A>G (p.Ser811=)
c.2691A>G (p.Ser897=)
c.2649A>G (p.Ser883=)
c.2514A>G (p.Ser838=)
c.2646A>G (p.Ser882=)
n.329+3363T>C
6g.33443243A>TCA450103828SYNGAP1,SYNGAP1-AS1c.2433A>T (p.Ser811=)
c.2691A>T (p.Ser897=)
c.2649A>T (p.Ser883=)
c.2514A>T (p.Ser838=)
c.2646A>T (p.Ser882=)
n.329+3363T>A
6g.33443244T>ACA363626666SYNGAP1,SYNGAP1-AS1c.2434T>A (p.Ser812Thr)
c.2692T>A (p.Ser898Thr)
c.2650T>A (p.Ser884Thr)
c.2515T>A (p.Ser839Thr)
c.2647T>A (p.Ser883Thr)
n.329+3362A>T
6g.33443244T>CCA363626672SYNGAP1,SYNGAP1-AS1c.2434T>C (p.Ser812Pro)
c.2692T>C (p.Ser898Pro)
c.2650T>C (p.Ser884Pro)
c.2515T>C (p.Ser839Pro)
c.2647T>C (p.Ser883Pro)
n.329+3362A>G
6g.33443244T>GCA363626674SYNGAP1,SYNGAP1-AS1c.2434T>G (p.Ser812Ala)
c.2692T>G (p.Ser898Ala)
c.2650T>G (p.Ser884Ala)
c.2515T>G (p.Ser839Ala)
c.2647T>G (p.Ser883Ala)
n.329+3362A>C
6g.33443245C>ACA363626675SYNGAP1,SYNGAP1-AS1c.2435C>A (p.Ser812Tyr)
c.2693C>A (p.Ser898Tyr)
c.2651C>A (p.Ser884Tyr)
c.2516C>A (p.Ser839Tyr)
c.2648C>A (p.Ser883Tyr)
n.329+3361G>T
6g.33443245C=CA1620014555SYNGAP1,SYNGAP1-AS1c.2435C= (p.Ser812=)
c.2693C= (p.Ser898=)
c.2651C= (p.Ser884=)
c.2516C= (p.Ser839=)
c.2648C= (p.Ser883=)
n.329+3361G=
6g.33443245C>GCA363626676SYNGAP1,SYNGAP1-AS1c.2435C>G (p.Ser812Cys)
c.2693C>G (p.Ser898Cys)
c.2651C>G (p.Ser884Cys)
c.2516C>G (p.Ser839Cys)
c.2648C>G (p.Ser883Cys)
n.329+3361G>C
 dbSNP gnomAD v2 gnomAD v4
6g.33443245C>TCA363626678SYNGAP1,SYNGAP1-AS1c.2435C>T (p.Ser812Phe)
c.2693C>T (p.Ser898Phe)
c.2651C>T (p.Ser884Phe)
c.2516C>T (p.Ser839Phe)
c.2648C>T (p.Ser883Phe)
n.329+3361G>A
 COSMIC COSMIC
6g.33443246C>ACA450103829SYNGAP1,SYNGAP1-AS1c.2436C>A (p.Ser812=)
c.2694C>A (p.Ser898=)
c.2652C>A (p.Ser884=)
c.2517C>A (p.Ser839=)
c.2649C>A (p.Ser883=)
n.329+3360G>T
6g.33443246C>GCA450103830SYNGAP1,SYNGAP1-AS1c.2436C>G (p.Ser812=)
c.2694C>G (p.Ser898=)
c.2652C>G (p.Ser884=)
c.2517C>G (p.Ser839=)
c.2649C>G (p.Ser883=)
n.329+3360G>C
6g.33443246C>TCA450103831SYNGAP1,SYNGAP1-AS1c.2436C>T (p.Ser812=)
c.2694C>T (p.Ser898=)
c.2652C>T (p.Ser884=)
c.2517C>T (p.Ser839=)
c.2649C>T (p.Ser883=)
n.329+3360G>A
 ClinVar dbSNP
6g.33443247A=CA1620014556SYNGAP1,SYNGAP1-AS1c.2437A= (p.Ile813=)
c.2695A= (p.Ile899=)
c.2653A= (p.Ile885=)
c.2518A= (p.Ile840=)
c.2650A= (p.Ile884=)
n.329+3359T=
6g.33443247A>CCA363626682SYNGAP1,SYNGAP1-AS1c.2437A>C (p.Ile813Leu)
c.2695A>C (p.Ile899Leu)
c.2653A>C (p.Ile885Leu)
c.2518A>C (p.Ile840Leu)
c.2650A>C (p.Ile884Leu)
n.329+3359T>G
6g.33443247A>GCA3758936SYNGAP1,SYNGAP1-AS1c.2437A>G (p.Ile813Val)
c.2695A>G (p.Ile899Val)
c.2653A>G (p.Ile885Val)
c.2518A>G (p.Ile840Val)
c.2650A>G (p.Ile884Val)
n.329+3359T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.33443247A>TCA363626684SYNGAP1,SYNGAP1-AS1c.2437A>T (p.Ile813Phe)
c.2695A>T (p.Ile899Phe)
c.2653A>T (p.Ile885Phe)
c.2518A>T (p.Ile840Phe)
c.2650A>T (p.Ile884Phe)
n.329+3359T>A
6g.33443248T>ACA363626690SYNGAP1,SYNGAP1-AS1c.2438T>A (p.Ile813Asn)
c.2696T>A (p.Ile899Asn)
c.2654T>A (p.Ile885Asn)
c.2519T>A (p.Ile840Asn)
c.2651T>A (p.Ile884Asn)
n.329+3358A>T
6g.33443248T>CCA363626693SYNGAP1,SYNGAP1-AS1c.2438T>C (p.Ile813Thr)
c.2696T>C (p.Ile899Thr)
c.2654T>C (p.Ile885Thr)
c.2519T>C (p.Ile840Thr)
c.2651T>C (p.Ile884Thr)
n.329+3358A>G
 dbSNP gnomAD v4
6g.33443248T>GCA363626698SYNGAP1,SYNGAP1-AS1c.2438T>G (p.Ile813Ser)
c.2696T>G (p.Ile899Ser)
c.2654T>G (p.Ile885Ser)
c.2519T>G (p.Ile840Ser)
c.2651T>G (p.Ile884Ser)
n.329+3358A>C
6g.33443248T=CA1620014557SYNGAP1,SYNGAP1-AS1c.2438T= (p.Ile813=)
c.2696T= (p.Ile899=)
c.2654T= (p.Ile885=)
c.2519T= (p.Ile840=)
c.2651T= (p.Ile884=)
n.329+3358A=
6g.33443249C>ACA450103832SYNGAP1,SYNGAP1-AS1c.2439C>A (p.Ile813=)
c.2697C>A (p.Ile899=)
c.2655C>A (p.Ile885=)
c.2520C>A (p.Ile840=)
c.2652C>A (p.Ile884=)
n.329+3357G>T
6g.33443249C>GCA363626701SYNGAP1,SYNGAP1-AS1c.2439C>G (p.Ile813Met)
c.2697C>G (p.Ile899Met)
c.2655C>G (p.Ile885Met)
c.2520C>G (p.Ile840Met)
c.2652C>G (p.Ile884Met)
n.329+3357G>C
6g.33443249C>TCA450103833SYNGAP1,SYNGAP1-AS1c.2439C>T (p.Ile813=)
c.2697C>T (p.Ile899=)
c.2655C>T (p.Ile885=)
c.2520C>T (p.Ile840=)
c.2652C>T (p.Ile884=)
n.329+3357G>A
6g.33443250A>CCA363626710SYNGAP1,SYNGAP1-AS1c.2440A>C (p.Thr814Pro)
c.2698A>C (p.Thr900Pro)
c.2656A>C (p.Thr886Pro)
c.2521A>C (p.Thr841Pro)
c.2653A>C (p.Thr885Pro)
n.329+3356T>G
6g.33443250A>GCA363626705SYNGAP1,SYNGAP1-AS1c.2440A>G (p.Thr814Ala)
c.2698A>G (p.Thr900Ala)
c.2656A>G (p.Thr886Ala)
c.2521A>G (p.Thr841Ala)
c.2653A>G (p.Thr885Ala)
n.329+3356T>C
6g.33443250A>TCA363626708SYNGAP1,SYNGAP1-AS1c.2440A>T (p.Thr814Ser)
c.2698A>T (p.Thr900Ser)
c.2656A>T (p.Thr886Ser)
c.2521A>T (p.Thr841Ser)
c.2653A>T (p.Thr885Ser)
n.329+3356T>A
6g.33443251C>ACA363626713SYNGAP1,SYNGAP1-AS1c.2441C>A (p.Thr814Lys)
c.2699C>A (p.Thr900Lys)
c.2657C>A (p.Thr886Lys)
c.2522C>A (p.Thr841Lys)
c.2654C>A (p.Thr885Lys)
n.329+3355G>T
6g.33443251C=CA1620014558SYNGAP1,SYNGAP1-AS1c.2441C= (p.Thr814=)
c.2699C= (p.Thr900=)
c.2657C= (p.Thr886=)
c.2522C= (p.Thr841=)
c.2654C= (p.Thr885=)
n.329+3355G=
6g.33443251C>GCA363626714SYNGAP1,SYNGAP1-AS1c.2441C>G (p.Thr814Arg)
c.2699C>G (p.Thr900Arg)
c.2657C>G (p.Thr886Arg)
c.2522C>G (p.Thr841Arg)
c.2654C>G (p.Thr885Arg)
n.329+3355G>C
6g.33443251C>TCA3758937SYNGAP1,SYNGAP1-AS1c.2441C>T (p.Thr814Met)
c.2699C>T (p.Thr900Met)
c.2657C>T (p.Thr886Met)
c.2522C>T (p.Thr841Met)
c.2654C>T (p.Thr885Met)
n.329+3355G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.33443252G>ACA3758938SYNGAP1,SYNGAP1-AS1c.2442G>A (p.Thr814=)
c.2700G>A (p.Thr900=)
c.2658G>A (p.Thr886=)
c.2523G>A (p.Thr841=)
c.2655G>A (p.Thr885=)
n.329+3354C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.33443252G>CCA3758940SYNGAP1,SYNGAP1-AS1c.2442G>C (p.Thr814=)
c.2700G>C (p.Thr900=)
c.2658G>C (p.Thr886=)
c.2523G>C (p.Thr841=)
c.2655G>C (p.Thr885=)
n.329+3354C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6g.33443252G=CA1620014559SYNGAP1,SYNGAP1-AS1c.2442G= (p.Thr814=)
c.2700G= (p.Thr900=)
c.2658G= (p.Thr886=)
c.2523G= (p.Thr841=)
c.2655G= (p.Thr885=)
n.329+3354C=
6g.33443252G>TCA3758939SYNGAP1,SYNGAP1-AS1c.2442G>T (p.Thr814=)
c.2700G>T (p.Thr900=)
c.2658G>T (p.Thr886=)
c.2523G>T (p.Thr841=)
c.2655G>T (p.Thr885=)
n.329+3354C>A
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
6g.33443253G>ACA363626723SYNGAP1,SYNGAP1-AS1c.2443G>A (p.Ala815Thr)
c.2701G>A (p.Ala901Thr)
c.2659G>A (p.Ala887Thr)
c.2524G>A (p.Ala842Thr)
c.2656G>A (p.Ala886Thr)
n.329+3353C>T
6g.33443253G>CCA363626725SYNGAP1,SYNGAP1-AS1c.2443G>C (p.Ala815Pro)
c.2701G>C (p.Ala901Pro)
c.2659G>C (p.Ala887Pro)
c.2524G>C (p.Ala842Pro)
c.2656G>C (p.Ala886Pro)
n.329+3353C>G
6g.33443253G>TCA363626727SYNGAP1,SYNGAP1-AS1c.2443G>T (p.Ala815Ser)
c.2701G>T (p.Ala901Ser)
c.2659G>T (p.Ala887Ser)
c.2524G>T (p.Ala842Ser)
c.2656G>T (p.Ala886Ser)
n.329+3353C>A
6g.33443255_33443267delCA2697553290SYNGAP1,SYNGAP1-AS1c.2445_2457del (p.Ala816SerfsTer?)
c.2703_2715del (p.Ala902SerfsTer?)
c.2661_2673del (p.Ala888SerfsTer?)
c.2526_2538del (p.Ala843SerfsTer?)
c.2658_2670del (p.Ala887SerfsTer?)
n.329+3341_329+3353del
 ClinVar
6g.33443254C>ACA363626731SYNGAP1,SYNGAP1-AS1c.2444C>A (p.Ala815Glu)
c.2702C>A (p.Ala901Glu)
c.2660C>A (p.Ala887Glu)
c.2525C>A (p.Ala842Glu)
c.2657C>A (p.Ala886Glu)
n.329+3352G>T
6g.33443254C=CA1620014560SYNGAP1,SYNGAP1-AS1c.2444C= (p.Ala815=)
c.2702C= (p.Ala901=)
c.2660C= (p.Ala887=)
c.2525C= (p.Ala842=)
c.2657C= (p.Ala886=)
n.329+3352G=
6g.33443254C>GCA363626734SYNGAP1,SYNGAP1-AS1c.2444C>G (p.Ala815Gly)
c.2702C>G (p.Ala901Gly)
c.2660C>G (p.Ala887Gly)
c.2525C>G (p.Ala842Gly)
c.2657C>G (p.Ala886Gly)
n.329+3352G>C
6g.33443254C>TCA363626736SYNGAP1,SYNGAP1-AS1c.2444C>T (p.Ala815Val)
c.2702C>T (p.Ala901Val)
c.2660C>T (p.Ala887Val)
c.2525C>T (p.Ala842Val)
c.2657C>T (p.Ala886Val)
n.329+3352G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
6g.33443255G>ACA3758941SYNGAP1,SYNGAP1-AS1c.2445G>A (p.Ala815=)
c.2703G>A (p.Ala901=)
c.2661G>A (p.Ala887=)
c.2526G>A (p.Ala842=)
c.2658G>A (p.Ala886=)
n.329+3351C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.33443255G>CCA450103834SYNGAP1,SYNGAP1-AS1c.2445G>C (p.Ala815=)
c.2703G>C (p.Ala901=)
c.2661G>C (p.Ala887=)
c.2526G>C (p.Ala842=)
c.2658G>C (p.Ala886=)
n.329+3351C>G
6g.33443255G=CA1620014561SYNGAP1,SYNGAP1-AS1c.2445G= (p.Ala815=)
c.2703G= (p.Ala901=)
c.2661G= (p.Ala887=)
c.2526G= (p.Ala842=)
c.2658G= (p.Ala886=)
n.329+3351C=
6g.33443255G>TCA450103835SYNGAP1,SYNGAP1-AS1c.2445G>T (p.Ala815=)
c.2703G>T (p.Ala901=)
c.2661G>T (p.Ala887=)
c.2526G>T (p.Ala842=)
c.2658G>T (p.Ala886=)
n.329+3351C>A
6g.33443256G>ACA3758942SYNGAP1,SYNGAP1-AS1c.2446G>A (p.Ala816Thr)
c.2704G>A (p.Ala902Thr)
c.2662G>A (p.Ala888Thr)
c.2527G>A (p.Ala843Thr)
c.2659G>A (p.Ala887Thr)
n.329+3350C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.33443256G>CCA363626749SYNGAP1,SYNGAP1-AS1c.2446G>C (p.Ala816Pro)
c.2704G>C (p.Ala902Pro)
c.2662G>C (p.Ala888Pro)
c.2527G>C (p.Ala843Pro)
c.2659G>C (p.Ala887Pro)
n.329+3350C>G
6g.33443256G=CA1620014562SYNGAP1,SYNGAP1-AS1c.2446G= (p.Ala816=)
c.2704G= (p.Ala902=)
c.2662G= (p.Ala888=)
c.2527G= (p.Ala843=)
c.2659G= (p.Ala887=)
n.329+3350C=
6g.33443256G>TCA363626747SYNGAP1,SYNGAP1-AS1c.2446G>T (p.Ala816Ser)
c.2704G>T (p.Ala902Ser)
c.2662G>T (p.Ala888Ser)
c.2527G>T (p.Ala843Ser)
c.2659G>T (p.Ala887Ser)
n.329+3350C>A
6g.33443257C>ACA363626751SYNGAP1,SYNGAP1-AS1c.2447C>A (p.Ala816Asp)
c.2705C>A (p.Ala902Asp)
c.2663C>A (p.Ala888Asp)
c.2528C>A (p.Ala843Asp)
c.2660C>A (p.Ala887Asp)
n.329+3349G>T
6g.33443257C>GCA363626753SYNGAP1,SYNGAP1-AS1c.2447C>G (p.Ala816Gly)
c.2705C>G (p.Ala902Gly)
c.2663C>G (p.Ala888Gly)
c.2528C>G (p.Ala843Gly)
c.2660C>G (p.Ala887Gly)
n.329+3349G>C
6g.33443257C>TCA363626755SYNGAP1,SYNGAP1-AS1c.2447C>T (p.Ala816Val)
c.2705C>T (p.Ala902Val)
c.2663C>T (p.Ala888Val)
c.2528C>T (p.Ala843Val)
c.2660C>T (p.Ala887Val)
n.329+3349G>A
6g.33443258T>ACA450103838SYNGAP1,SYNGAP1-AS1c.2448T>A (p.Ala816=)
c.2706T>A (p.Ala902=)
c.2664T>A (p.Ala888=)
c.2529T>A (p.Ala843=)
c.2661T>A (p.Ala887=)
n.329+3348A>T
6g.33443258T>CCA450103837SYNGAP1,SYNGAP1-AS1c.2448T>C (p.Ala816=)
c.2706T>C (p.Ala902=)
c.2664T>C (p.Ala888=)
c.2529T>C (p.Ala843=)
c.2661T>C (p.Ala887=)
n.329+3348A>G
6g.33443258T>GCA450103836SYNGAP1,SYNGAP1-AS1c.2448T>G (p.Ala816=)
c.2706T>G (p.Ala902=)
c.2664T>G (p.Ala888=)
c.2529T>G (p.Ala843=)
c.2661T>G (p.Ala887=)
n.329+3348A>C
6g.33443259G>ACA363626758SYNGAP1,SYNGAP1-AS1c.2449G>A (p.Gly817Ser)
c.2707G>A (p.Gly903Ser)
c.2665G>A (p.Gly889Ser)
c.2530G>A (p.Gly844Ser)
c.2662G>A (p.Gly888Ser)
n.329+3347C>T
 dbSNP gnomAD v4
6g.33443259G>CCA363626760SYNGAP1,SYNGAP1-AS1c.2449G>C (p.Gly817Arg)
c.2707G>C (p.Gly903Arg)
c.2665G>C (p.Gly889Arg)
c.2530G>C (p.Gly844Arg)
c.2662G>C (p.Gly888Arg)
n.329+3347C>G
6g.33443259G=CA1620014563SYNGAP1,SYNGAP1-AS1c.2449G= (p.Gly817=)
c.2707G= (p.Gly903=)
c.2665G= (p.Gly889=)
c.2530G= (p.Gly844=)
c.2662G= (p.Gly888=)
n.329+3347C=
6g.33443259G>TCA363626762SYNGAP1,SYNGAP1-AS1c.2449G>T (p.Gly817Cys)
c.2707G>T (p.Gly903Cys)
c.2665G>T (p.Gly889Cys)
c.2530G>T (p.Gly844Cys)
c.2662G>T (p.Gly888Cys)
n.329+3347C>A
6g.33443260G>ACA363626766SYNGAP1,SYNGAP1-AS1c.2450G>A (p.Gly817Asp)
c.2708G>A (p.Gly903Asp)
c.2666G>A (p.Gly889Asp)
c.2531G>A (p.Gly844Asp)
c.2663G>A (p.Gly888Asp)
n.329+3346C>T
6g.33443260G>CCA363626768SYNGAP1,SYNGAP1-AS1c.2450G>C (p.Gly817Ala)
c.2708G>C (p.Gly903Ala)
c.2666G>C (p.Gly889Ala)
c.2531G>C (p.Gly844Ala)
c.2663G>C (p.Gly888Ala)
n.329+3346C>G
6g.33443260G>TCA363626771SYNGAP1,SYNGAP1-AS1c.2450G>T (p.Gly817Val)
c.2708G>T (p.Gly903Val)
c.2666G>T (p.Gly889Val)
c.2531G>T (p.Gly844Val)
c.2663G>T (p.Gly888Val)
n.329+3346C>A
6g.33443261C>ACA450103839SYNGAP1,SYNGAP1-AS1c.2451C>A (p.Gly817=)
c.2709C>A (p.Gly903=)
c.2667C>A (p.Gly889=)
c.2532C>A (p.Gly844=)
c.2664C>A (p.Gly888=)
n.329+3345G>T
6g.33443261C>GCA450103840SYNGAP1,SYNGAP1-AS1c.2451C>G (p.Gly817=)
c.2709C>G (p.Gly903=)
c.2667C>G (p.Gly889=)
c.2532C>G (p.Gly844=)
c.2664C>G (p.Gly888=)
n.329+3345G>C
6g.33443261C>TCA450103841SYNGAP1,SYNGAP1-AS1c.2451C>T (p.Gly817=)
c.2709C>T (p.Gly903=)
c.2667C>T (p.Gly889=)
c.2532C>T (p.Gly844=)
c.2664C>T (p.Gly888=)
n.329+3345G>A
6g.33443262A=CA1620014564SYNGAP1,SYNGAP1-AS1c.2452A= (p.Met818=)
c.2710A= (p.Met904=)
c.2668A= (p.Met890=)
c.2533A= (p.Met845=)
c.2665A= (p.Met889=)
n.329+3344T=
6g.33443262A>CCA363626775SYNGAP1,SYNGAP1-AS1c.2452A>C (p.Met818Leu)
c.2710A>C (p.Met904Leu)
c.2668A>C (p.Met890Leu)
c.2533A>C (p.Met845Leu)
c.2665A>C (p.Met889Leu)
n.329+3344T>G
6g.33443262A>GCA3758943SYNGAP1,SYNGAP1-AS1c.2452A>G (p.Met818Val)
c.2710A>G (p.Met904Val)
c.2668A>G (p.Met890Val)
c.2533A>G (p.Met845Val)
c.2665A>G (p.Met889Val)
n.329+3344T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.33443262A>TCA363626778SYNGAP1,SYNGAP1-AS1c.2452A>T (p.Met818Leu)
c.2710A>T (p.Met904Leu)
c.2668A>T (p.Met890Leu)
c.2533A>T (p.Met845Leu)
c.2665A>T (p.Met889Leu)
n.329+3344T>A
6g.33443263T>ACA363626783SYNGAP1,SYNGAP1-AS1c.2453T>A (p.Met818Lys)
c.2711T>A (p.Met904Lys)
c.2669T>A (p.Met890Lys)
c.2534T>A (p.Met845Lys)
c.2666T>A (p.Met889Lys)
n.329+3343A>T
6g.33443263T>CCA363626780SYNGAP1,SYNGAP1-AS1c.2453T>C (p.Met818Thr)
c.2711T>C (p.Met904Thr)
c.2669T>C (p.Met890Thr)
c.2534T>C (p.Met845Thr)
c.2666T>C (p.Met889Thr)
n.329+3343A>G
 ClinVar dbSNP
6g.33443263T>GCA363626782SYNGAP1,SYNGAP1-AS1c.2453T>G (p.Met818Arg)
c.2711T>G (p.Met904Arg)
c.2669T>G (p.Met890Arg)
c.2534T>G (p.Met845Arg)
c.2666T>G (p.Met889Arg)
n.329+3343A>C
6g.33443264G>ACA363626784SYNGAP1,SYNGAP1-AS1c.2454G>A (p.Met818Ile)
c.2712G>A (p.Met904Ile)
c.2670G>A (p.Met890Ile)
c.2535G>A (p.Met845Ile)
c.2667G>A (p.Met889Ile)
n.329+3342C>T
6g.33443264G>CCA363626787SYNGAP1,SYNGAP1-AS1c.2454G>C (p.Met818Ile)
c.2712G>C (p.Met904Ile)
c.2670G>C (p.Met890Ile)
c.2535G>C (p.Met845Ile)
c.2667G>C (p.Met889Ile)
n.329+3342C>G
6g.33443264G>TCA363626791SYNGAP1,SYNGAP1-AS1c.2454G>T (p.Met818Ile)
c.2712G>T (p.Met904Ile)
c.2670G>T (p.Met890Ile)
c.2535G>T (p.Met845Ile)
c.2667G>T (p.Met889Ile)
n.329+3342C>A
6g.33443265C>ACA363626794SYNGAP1,SYNGAP1-AS1c.2455C>A (p.Arg819Ser)
c.2713C>A (p.Arg905Ser)
c.2671C>A (p.Arg891Ser)
c.2536C>A (p.Arg846Ser)
c.2668C>A (p.Arg890Ser)
n.329+3341G>T
 gnomAD v4
6g.33443265C=CA1620014565SYNGAP1,SYNGAP1-AS1c.2455C= (p.Arg819=)
c.2713C= (p.Arg905=)
c.2671C= (p.Arg891=)
c.2536C= (p.Arg846=)
c.2668C= (p.Arg890=)
n.329+3341G=
6g.33443265C>GCA363626797SYNGAP1,SYNGAP1-AS1c.2455C>G (p.Arg819Gly)
c.2713C>G (p.Arg905Gly)
c.2671C>G (p.Arg891Gly)
c.2536C>G (p.Arg846Gly)
c.2668C>G (p.Arg890Gly)
n.329+3341G>C
6g.33443265C>TCA137072963SYNGAP1,SYNGAP1-AS1c.2455C>T (p.Arg819Cys)
c.2713C>T (p.Arg905Cys)
c.2671C>T (p.Arg891Cys)
c.2536C>T (p.Arg846Cys)
c.2668C>T (p.Arg890Cys)
n.329+3341G>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
6g.33443266G>ACA363626802SYNGAP1,SYNGAP1-AS1c.2456G>A (p.Arg819His)
c.2714G>A (p.Arg905His)
c.2672G>A (p.Arg891His)
c.2537G>A (p.Arg846His)
c.2669G>A (p.Arg890His)
n.329+3340C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.33443266G>CCA363626804SYNGAP1,SYNGAP1-AS1c.2456G>C (p.Arg819Pro)
c.2714G>C (p.Arg905Pro)
c.2672G>C (p.Arg891Pro)
c.2537G>C (p.Arg846Pro)
c.2669G>C (p.Arg890Pro)
n.329+3340C>G
6g.33443266G=CA1620014566SYNGAP1,SYNGAP1-AS1c.2456G= (p.Arg819=)
c.2714G= (p.Arg905=)
c.2672G= (p.Arg891=)
c.2537G= (p.Arg846=)
c.2669G= (p.Arg890=)
n.329+3340C=
6g.33443266G>TCA363626805SYNGAP1,SYNGAP1-AS1c.2456G>T (p.Arg819Leu)
c.2714G>T (p.Arg905Leu)
c.2672G>T (p.Arg891Leu)
c.2537G>T (p.Arg846Leu)
c.2669G>T (p.Arg890Leu)
n.329+3340C>A
 gnomAD v4
6g.33443267C>ACA450103842SYNGAP1,SYNGAP1-AS1c.2457C>A (p.Arg819=)
c.2715C>A (p.Arg905=)
c.2673C>A (p.Arg891=)
c.2538C>A (p.Arg846=)
c.2670C>A (p.Arg890=)
n.329+3339G>T
6g.33443267C>GCA450103843SYNGAP1,SYNGAP1-AS1c.2457C>G (p.Arg819=)
c.2715C>G (p.Arg905=)
c.2673C>G (p.Arg891=)
c.2538C>G (p.Arg846=)
c.2670C>G (p.Arg890=)
n.329+3339G>C
6g.33443267C>TCA450103844SYNGAP1,SYNGAP1-AS1c.2457C>T (p.Arg819=)
c.2715C>T (p.Arg905=)
c.2673C>T (p.Arg891=)
c.2538C>T (p.Arg846=)
c.2670C>T (p.Arg890=)
n.329+3339G>A
 COSMIC COSMIC
6g.33443268C>ACA363626810SYNGAP1,SYNGAP1-AS1c.2458C>A (p.Leu820Ile)
c.2716C>A (p.Leu906Ile)
c.2674C>A (p.Leu892Ile)
c.2539C>A (p.Leu847Ile)
c.2671C>A (p.Leu891Ile)
n.329+3338G>T
6g.33443268C=CA1620014567SYNGAP1,SYNGAP1-AS1c.2458C= (p.Leu820=)
c.2716C= (p.Leu906=)
c.2674C= (p.Leu892=)
c.2539C= (p.Leu847=)
c.2671C= (p.Leu891=)
n.329+3338G=
6g.33443268C>GCA363626814SYNGAP1,SYNGAP1-AS1c.2458C>G (p.Leu820Val)
c.2716C>G (p.Leu906Val)
c.2674C>G (p.Leu892Val)
c.2539C>G (p.Leu847Val)
c.2671C>G (p.Leu891Val)
n.329+3338G>C
6g.33443268C>TCA137072972SYNGAP1,SYNGAP1-AS1c.2458C>T (p.Leu820Phe)
c.2716C>T (p.Leu906Phe)
c.2674C>T (p.Leu892Phe)
c.2539C>T (p.Leu847Phe)
c.2671C>T (p.Leu891Phe)
n.329+3338G>A
 dbSNP
6g.33443269delCA2499218227SYNGAP1,SYNGAP1-AS1c.2459del (p.Leu820ProfsTer?)
c.2717del (p.Leu906ProfsTer?)
c.2675del (p.Leu892ProfsTer?)
c.2540del (p.Leu847ProfsTer?)
c.2672del (p.Leu891ProfsTer?)
n.329+3337del
 ClinVar dbSNP
6g.33443269T>ACA363626820SYNGAP1,SYNGAP1-AS1c.2459T>A (p.Leu820His)
c.2717T>A (p.Leu906His)
c.2675T>A (p.Leu892His)
c.2540T>A (p.Leu847His)
c.2672T>A (p.Leu891His)
n.329+3337A>T
6g.33443269T>CCA363626830SYNGAP1,SYNGAP1-AS1c.2459T>C (p.Leu820Pro)
c.2717T>C (p.Leu906Pro)
c.2675T>C (p.Leu892Pro)
c.2540T>C (p.Leu847Pro)
c.2672T>C (p.Leu891Pro)
n.329+3337A>G
6g.33443269T>GCA363626817SYNGAP1,SYNGAP1-AS1c.2459T>G (p.Leu820Arg)
c.2717T>G (p.Leu906Arg)
c.2675T>G (p.Leu892Arg)
c.2540T>G (p.Leu847Arg)
c.2672T>G (p.Leu891Arg)
n.329+3337A>C
6g.33443270C>ACA450103845SYNGAP1,SYNGAP1-AS1c.2460C>A (p.Leu820=)
c.2718C>A (p.Leu906=)
c.2676C>A (p.Leu892=)
c.2541C>A (p.Leu847=)
c.2673C>A (p.Leu891=)
n.329+3336G>T
6g.33443270C>GCA450103847SYNGAP1,SYNGAP1-AS1c.2460C>G (p.Leu820=)
c.2718C>G (p.Leu906=)
c.2676C>G (p.Leu892=)
c.2541C>G (p.Leu847=)
c.2673C>G (p.Leu891=)
n.329+3336G>C
6g.33443270C>TCA450103846SYNGAP1,SYNGAP1-AS1c.2460C>T (p.Leu820=)
c.2718C>T (p.Leu906=)
c.2676C>T (p.Leu892=)
c.2541C>T (p.Leu847=)
c.2673C>T (p.Leu891=)
n.329+3336G>A
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

Number of alleles fetched