Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.33443146_33443154delCA2580074378SYNGAP1,SYNGAP1-AS1c.2336_2344del (p.Ala779_Gly781del)
c.2594_2602del (p.Ala865_Gly867del)
c.2552_2560del (p.Ala851_Gly853del)
c.2417_2425del (p.Ala806_Gly808del)
c.2549_2557del (p.Ala850_Gly852del)
n.329+3454_329+3462del
 ClinVar
6g.33443154delCA155637SYNGAP1,SYNGAP1-AS1c.2344del (p.Asp782ThrfsTer10)
c.2602del (p.Asp868ThrfsTer10)
c.2560del (p.Asp854ThrfsTer10)
c.2425del (p.Asp809ThrfsTer10)
c.2557del (p.Asp853ThrfsTer10)
n.329+3455del
 ClinVar dbSNP
6g.33443154G>ACA363626094SYNGAP1,SYNGAP1-AS1c.2344G>A (p.Asp782Asn)
c.2602G>A (p.Asp868Asn)
c.2560G>A (p.Asp854Asn)
c.2425G>A (p.Asp809Asn)
c.2557G>A (p.Asp853Asn)
n.329+3452C>T
6g.33443154G>CCA363626100SYNGAP1,SYNGAP1-AS1c.2344G>C (p.Asp782His)
c.2602G>C (p.Asp868His)
c.2560G>C (p.Asp854His)
c.2425G>C (p.Asp809His)
c.2557G>C (p.Asp853His)
n.329+3452C>G
 gnomAD v4
6g.33443154G>TCA363626102SYNGAP1,SYNGAP1-AS1c.2344G>T (p.Asp782Tyr)
c.2602G>T (p.Asp868Tyr)
c.2560G>T (p.Asp854Tyr)
c.2425G>T (p.Asp809Tyr)
c.2557G>T (p.Asp853Tyr)
n.329+3452C>A
6g.33443155A=CA1620014520SYNGAP1,SYNGAP1-AS1c.2345A= (p.Asp782=)
c.2603A= (p.Asp868=)
c.2561A= (p.Asp854=)
c.2426A= (p.Asp809=)
c.2558A= (p.Asp853=)
n.329+3451T=
6g.33443155A>CCA363626106SYNGAP1,SYNGAP1-AS1c.2345A>C (p.Asp782Ala)
c.2603A>C (p.Asp868Ala)
c.2561A>C (p.Asp854Ala)
c.2426A>C (p.Asp809Ala)
c.2558A>C (p.Asp853Ala)
n.329+3451T>G
6g.33443155A>GCA363626111SYNGAP1,SYNGAP1-AS1c.2345A>G (p.Asp782Gly)
c.2603A>G (p.Asp868Gly)
c.2561A>G (p.Asp854Gly)
c.2426A>G (p.Asp809Gly)
c.2558A>G (p.Asp853Gly)
n.329+3451T>C
 dbSNP
6g.33443155A>TCA363626109SYNGAP1,SYNGAP1-AS1c.2345A>T (p.Asp782Val)
c.2603A>T (p.Asp868Val)
c.2561A>T (p.Asp854Val)
c.2426A>T (p.Asp809Val)
c.2558A>T (p.Asp853Val)
n.329+3451T>A
6g.33443156C>ACA363626114SYNGAP1,SYNGAP1-AS1c.2346C>A (p.Asp782Glu)
c.2604C>A (p.Asp868Glu)
c.2562C>A (p.Asp854Glu)
c.2427C>A (p.Asp809Glu)
c.2559C>A (p.Asp853Glu)
n.329+3450G>T
6g.33443156C>GCA363626116SYNGAP1,SYNGAP1-AS1c.2346C>G (p.Asp782Glu)
c.2604C>G (p.Asp868Glu)
c.2562C>G (p.Asp854Glu)
c.2427C>G (p.Asp809Glu)
c.2559C>G (p.Asp853Glu)
n.329+3450G>C
6g.33443156C>TCA450103752SYNGAP1,SYNGAP1-AS1c.2346C>T (p.Asp782=)
c.2604C>T (p.Asp868=)
c.2562C>T (p.Asp854=)
c.2427C>T (p.Asp809=)
c.2559C>T (p.Asp853=)
n.329+3450G>A
6g.33443157C>ACA363626118SYNGAP1,SYNGAP1-AS1c.2347C>A (p.Leu783Met)
c.2605C>A (p.Leu869Met)
c.2563C>A (p.Leu855Met)
c.2428C>A (p.Leu810Met)
c.2560C>A (p.Leu854Met)
n.329+3449G>T
6g.33443157C>GCA363626119SYNGAP1,SYNGAP1-AS1c.2347C>G (p.Leu783Val)
c.2605C>G (p.Leu869Val)
c.2563C>G (p.Leu855Val)
c.2428C>G (p.Leu810Val)
c.2560C>G (p.Leu854Val)
n.329+3449G>C
6g.33443157C>TCA450103753SYNGAP1,SYNGAP1-AS1c.2347C>T (p.Leu783=)
c.2605C>T (p.Leu869=)
c.2563C>T (p.Leu855=)
c.2428C>T (p.Leu810=)
c.2560C>T (p.Leu854=)
n.329+3449G>A
6g.33443158T>ACA363626123SYNGAP1,SYNGAP1-AS1c.2348T>A (p.Leu783Gln)
c.2606T>A (p.Leu869Gln)
c.2564T>A (p.Leu855Gln)
c.2429T>A (p.Leu810Gln)
c.2561T>A (p.Leu854Gln)
n.329+3448A>T
6g.33443158T>CCA363626120SYNGAP1,SYNGAP1-AS1c.2348T>C (p.Leu783Pro)
c.2606T>C (p.Leu869Pro)
c.2564T>C (p.Leu855Pro)
c.2429T>C (p.Leu810Pro)
c.2561T>C (p.Leu854Pro)
n.329+3448A>G
6g.33443158T>GCA363626121SYNGAP1,SYNGAP1-AS1c.2348T>G (p.Leu783Arg)
c.2606T>G (p.Leu869Arg)
c.2564T>G (p.Leu855Arg)
c.2429T>G (p.Leu810Arg)
c.2561T>G (p.Leu854Arg)
n.329+3448A>C
6g.33443159G>ACA450103754SYNGAP1,SYNGAP1-AS1c.2349G>A (p.Leu783=)
c.2607G>A (p.Leu869=)
c.2565G>A (p.Leu855=)
c.2430G>A (p.Leu810=)
c.2562G>A (p.Leu854=)
n.329+3447C>T
6g.33443159G>CCA450103756SYNGAP1,SYNGAP1-AS1c.2349G>C (p.Leu783=)
c.2607G>C (p.Leu869=)
c.2565G>C (p.Leu855=)
c.2430G>C (p.Leu810=)
c.2562G>C (p.Leu854=)
n.329+3447C>G
6g.33443159G>TCA450103755SYNGAP1,SYNGAP1-AS1c.2349G>T (p.Leu783=)
c.2607G>T (p.Leu869=)
c.2565G>T (p.Leu855=)
c.2430G>T (p.Leu810=)
c.2562G>T (p.Leu854=)
n.329+3447C>A
6g.33443160C>ACA363626126SYNGAP1,SYNGAP1-AS1c.2350C>A (p.Leu784Met)
c.2608C>A (p.Leu870Met)
c.2566C>A (p.Leu856Met)
c.2431C>A (p.Leu811Met)
c.2563C>A (p.Leu855Met)
n.329+3446G>T
6g.33443160C=CA1620014521SYNGAP1,SYNGAP1-AS1c.2350C= (p.Leu784=)
c.2608C= (p.Leu870=)
c.2566C= (p.Leu856=)
c.2431C= (p.Leu811=)
c.2563C= (p.Leu855=)
n.329+3446G=
6g.33443160C>GCA363626129SYNGAP1,SYNGAP1-AS1c.2350C>G (p.Leu784Val)
c.2608C>G (p.Leu870Val)
c.2566C>G (p.Leu856Val)
c.2431C>G (p.Leu811Val)
c.2563C>G (p.Leu855Val)
n.329+3446G>C
 ClinVar dbSNP
6g.33443160C>TCA450103757SYNGAP1,SYNGAP1-AS1c.2350C>T (p.Leu784=)
c.2608C>T (p.Leu870=)
c.2566C>T (p.Leu856=)
c.2431C>T (p.Leu811=)
c.2563C>T (p.Leu855=)
n.329+3446G>A
6g.33443161T>ACA363626131SYNGAP1,SYNGAP1-AS1c.2351T>A (p.Leu784Gln)
c.2609T>A (p.Leu870Gln)
c.2567T>A (p.Leu856Gln)
c.2432T>A (p.Leu811Gln)
c.2564T>A (p.Leu855Gln)
n.329+3445A>T
6g.33443161T>CCA363626133SYNGAP1,SYNGAP1-AS1c.2351T>C (p.Leu784Pro)
c.2609T>C (p.Leu870Pro)
c.2567T>C (p.Leu856Pro)
c.2432T>C (p.Leu811Pro)
c.2564T>C (p.Leu855Pro)
n.329+3445A>G
6g.33443161T>GCA363626136SYNGAP1,SYNGAP1-AS1c.2351T>G (p.Leu784Arg)
c.2609T>G (p.Leu870Arg)
c.2567T>G (p.Leu856Arg)
c.2432T>G (p.Leu811Arg)
c.2564T>G (p.Leu855Arg)
n.329+3445A>C
6g.33443162G>ACA450103758SYNGAP1,SYNGAP1-AS1c.2352G>A (p.Leu784=)
c.2610G>A (p.Leu870=)
c.2568G>A (p.Leu856=)
c.2433G>A (p.Leu811=)
c.2565G>A (p.Leu855=)
n.329+3444C>T
 gnomAD v4
6g.33443162G>CCA450103759SYNGAP1,SYNGAP1-AS1c.2352G>C (p.Leu784=)
c.2610G>C (p.Leu870=)
c.2568G>C (p.Leu856=)
c.2433G>C (p.Leu811=)
c.2565G>C (p.Leu855=)
n.329+3444C>G
6g.33443162G>TCA450103760SYNGAP1,SYNGAP1-AS1c.2352G>T (p.Leu784=)
c.2610G>T (p.Leu870=)
c.2568G>T (p.Leu856=)
c.2433G>T (p.Leu811=)
c.2565G>T (p.Leu855=)
n.329+3444C>A
6g.33443163C>ACA363626137SYNGAP1,SYNGAP1-AS1c.2353C>A (p.His785Asn)
c.2611C>A (p.His871Asn)
c.2569C>A (p.His857Asn)
c.2434C>A (p.His812Asn)
c.2566C>A (p.His856Asn)
n.329+3443G>T
6g.33443163C>GCA363626139SYNGAP1,SYNGAP1-AS1c.2353C>G (p.His785Asp)
c.2611C>G (p.His871Asp)
c.2569C>G (p.His857Asp)
c.2434C>G (p.His812Asp)
c.2566C>G (p.His856Asp)
n.329+3443G>C
6g.33443163C>TCA363626141SYNGAP1,SYNGAP1-AS1c.2353C>T (p.His785Tyr)
c.2611C>T (p.His871Tyr)
c.2569C>T (p.His857Tyr)
c.2434C>T (p.His812Tyr)
c.2566C>T (p.His856Tyr)
n.329+3443G>A
6g.33443164A>CCA363626144SYNGAP1,SYNGAP1-AS1c.2354A>C (p.His785Pro)
c.2612A>C (p.His871Pro)
c.2570A>C (p.His857Pro)
c.2435A>C (p.His812Pro)
c.2567A>C (p.His856Pro)
n.329+3442T>G
6g.33443164A>GCA363626146SYNGAP1,SYNGAP1-AS1c.2354A>G (p.His785Arg)
c.2612A>G (p.His871Arg)
c.2570A>G (p.His857Arg)
c.2435A>G (p.His812Arg)
c.2567A>G (p.His856Arg)
n.329+3442T>C
6g.33443164A>TCA363626148SYNGAP1,SYNGAP1-AS1c.2354A>T (p.His785Leu)
c.2612A>T (p.His871Leu)
c.2570A>T (p.His857Leu)
c.2435A>T (p.His812Leu)
c.2567A>T (p.His856Leu)
n.329+3442T>A
6g.33443165C>ACA363626151SYNGAP1,SYNGAP1-AS1c.2355C>A (p.His785Gln)
c.2613C>A (p.His871Gln)
c.2571C>A (p.His857Gln)
c.2436C>A (p.His812Gln)
c.2568C>A (p.His856Gln)
n.329+3441G>T
6g.33443165C>GCA363626154SYNGAP1,SYNGAP1-AS1c.2355C>G (p.His785Gln)
c.2613C>G (p.His871Gln)
c.2571C>G (p.His857Gln)
c.2436C>G (p.His812Gln)
c.2568C>G (p.His856Gln)
n.329+3441G>C
 gnomAD v4
6g.33443165C>TCA450103761SYNGAP1,SYNGAP1-AS1c.2355C>T (p.His785=)
c.2613C>T (p.His871=)
c.2571C>T (p.His857=)
c.2436C>T (p.His812=)
c.2568C>T (p.His856=)
n.329+3441G>A
6g.33443166T>ACA363626161SYNGAP1,SYNGAP1-AS1c.2356T>A (p.Ser786Thr)
c.2614T>A (p.Ser872Thr)
c.2572T>A (p.Ser858Thr)
c.2437T>A (p.Ser813Thr)
c.2569T>A (p.Ser857Thr)
n.329+3440A>T
6g.33443166T>CCA363626157SYNGAP1,SYNGAP1-AS1c.2356T>C (p.Ser786Pro)
c.2614T>C (p.Ser872Pro)
c.2572T>C (p.Ser858Pro)
c.2437T>C (p.Ser813Pro)
c.2569T>C (p.Ser857Pro)
n.329+3440A>G
6g.33443166T>GCA363626159SYNGAP1,SYNGAP1-AS1c.2356T>G (p.Ser786Ala)
c.2614T>G (p.Ser872Ala)
c.2572T>G (p.Ser858Ala)
c.2437T>G (p.Ser813Ala)
c.2569T>G (p.Ser857Ala)
n.329+3440A>C
6g.33443167C>ACA363626163SYNGAP1,SYNGAP1-AS1c.2357C>A (p.Ser786Ter)
c.2615C>A (p.Ser872Ter)
c.2573C>A (p.Ser858Ter)
c.2438C>A (p.Ser813Ter)
c.2570C>A (p.Ser857Ter)
n.329+3439G>T
6g.33443167C>GCA363626166SYNGAP1,SYNGAP1-AS1c.2357C>G (p.Ser786Ter)
c.2615C>G (p.Ser872Ter)
c.2573C>G (p.Ser858Ter)
c.2438C>G (p.Ser813Ter)
c.2570C>G (p.Ser857Ter)
n.329+3439G>C
6g.33443167C>TCA363626168SYNGAP1,SYNGAP1-AS1c.2357C>T (p.Ser786Leu)
c.2615C>T (p.Ser872Leu)
c.2573C>T (p.Ser858Leu)
c.2438C>T (p.Ser813Leu)
c.2570C>T (p.Ser857Leu)
n.329+3439G>A
6g.33443168A>CCA450103764SYNGAP1,SYNGAP1-AS1c.2358A>C (p.Ser786=)
c.2616A>C (p.Ser872=)
c.2574A>C (p.Ser858=)
c.2439A>C (p.Ser813=)
c.2571A>C (p.Ser857=)
n.329+3438T>G
6g.33443168A>GCA450103763SYNGAP1,SYNGAP1-AS1c.2358A>G (p.Ser786=)
c.2616A>G (p.Ser872=)
c.2574A>G (p.Ser858=)
c.2439A>G (p.Ser813=)
c.2571A>G (p.Ser857=)
n.329+3438T>C
6g.33443168A>TCA450103762SYNGAP1,SYNGAP1-AS1c.2358A>T (p.Ser786=)
c.2616A>T (p.Ser872=)
c.2574A>T (p.Ser858=)
c.2439A>T (p.Ser813=)
c.2571A>T (p.Ser857=)
n.329+3438T>A
6g.33443169A=CA1620014522SYNGAP1,SYNGAP1-AS1c.2359A= (p.Ser787=)
c.2617A= (p.Ser873=)
c.2575A= (p.Ser859=)
c.2440A= (p.Ser814=)
c.2572A= (p.Ser858=)
n.329+3437T=
6g.33443169A>CCA363626170SYNGAP1,SYNGAP1-AS1c.2359A>C (p.Ser787Arg)
c.2617A>C (p.Ser873Arg)
c.2575A>C (p.Ser859Arg)
c.2440A>C (p.Ser814Arg)
c.2572A>C (p.Ser858Arg)
n.329+3437T>G
6g.33443169A>GCA363626172SYNGAP1,SYNGAP1-AS1c.2359A>G (p.Ser787Gly)
c.2617A>G (p.Ser873Gly)
c.2575A>G (p.Ser859Gly)
c.2440A>G (p.Ser814Gly)
c.2572A>G (p.Ser858Gly)
n.329+3437T>C
 gnomAD v4
6g.33443169A>TCA363626174SYNGAP1,SYNGAP1-AS1c.2359A>T (p.Ser787Cys)
c.2617A>T (p.Ser873Cys)
c.2575A>T (p.Ser859Cys)
c.2440A>T (p.Ser814Cys)
c.2572A>T (p.Ser858Cys)
n.329+3437T>A
6g.33443170G>ACA363626181SYNGAP1,SYNGAP1-AS1c.2360G>A (p.Ser787Asn)
c.2618G>A (p.Ser873Asn)
c.2576G>A (p.Ser859Asn)
c.2441G>A (p.Ser814Asn)
c.2573G>A (p.Ser858Asn)
n.329+3436C>T
 dbSNP gnomAD v2
6g.33443170G>CCA363626177SYNGAP1,SYNGAP1-AS1c.2360G>C (p.Ser787Thr)
c.2618G>C (p.Ser873Thr)
c.2576G>C (p.Ser859Thr)
c.2441G>C (p.Ser814Thr)
c.2573G>C (p.Ser858Thr)
n.329+3436C>G
6g.33443170G=CA1620014523SYNGAP1,SYNGAP1-AS1c.2360G= (p.Ser787=)
c.2618G= (p.Ser873=)
c.2576G= (p.Ser859=)
c.2441G= (p.Ser814=)
c.2573G= (p.Ser858=)
n.329+3436C=
6g.33443170G>TCA363626178SYNGAP1,SYNGAP1-AS1c.2360G>T (p.Ser787Ile)
c.2618G>T (p.Ser873Ile)
c.2576G>T (p.Ser859Ile)
c.2441G>T (p.Ser814Ile)
c.2573G>T (p.Ser858Ile)
n.329+3436C>A
6g.33443173_33443177dupCA1139659340SYNGAP1,SYNGAP1-AS1c.2363_2367dup (p.Ser790ArgfsTer4)
c.2621_2625dup (p.Ser876ArgfsTer4)
c.2579_2583dup (p.Ser862ArgfsTer4)
c.2444_2448dup (p.Ser817ArgfsTer4)
c.2576_2580dup (p.Ser861ArgfsTer4)
n.329+3432_329+3436dup
 ClinVar dbSNP
6g.33443171C>ACA363626185SYNGAP1,SYNGAP1-AS1c.2361C>A (p.Ser787Arg)
c.2619C>A (p.Ser873Arg)
c.2577C>A (p.Ser859Arg)
c.2442C>A (p.Ser814Arg)
c.2574C>A (p.Ser858Arg)
n.329+3435G>T
6g.33443171C>GCA363626186SYNGAP1,SYNGAP1-AS1c.2361C>G (p.Ser787Arg)
c.2619C>G (p.Ser873Arg)
c.2577C>G (p.Ser859Arg)
c.2442C>G (p.Ser814Arg)
c.2574C>G (p.Ser858Arg)
n.329+3435G>C
 ClinVar dbSNP gnomAD v4 COSMIC COSMIC
6g.33443171C>TCA450103765SYNGAP1,SYNGAP1-AS1c.2361C>T (p.Ser787=)
c.2619C>T (p.Ser873=)
c.2577C>T (p.Ser859=)
c.2442C>T (p.Ser814=)
c.2574C>T (p.Ser858=)
n.329+3435G>A
6g.33443172C>ACA363626189SYNGAP1,SYNGAP1-AS1c.2362C>A (p.Gln788Lys)
c.2620C>A (p.Gln874Lys)
c.2578C>A (p.Gln860Lys)
c.2443C>A (p.Gln815Lys)
c.2575C>A (p.Gln859Lys)
n.329+3434G>T
6g.33443172C=CA1620014524SYNGAP1,SYNGAP1-AS1c.2362C= (p.Gln788=)
c.2620C= (p.Gln874=)
c.2578C= (p.Gln860=)
c.2443C= (p.Gln815=)
c.2575C= (p.Gln859=)
n.329+3434G=
6g.33443172C>GCA363626192SYNGAP1,SYNGAP1-AS1c.2362C>G (p.Gln788Glu)
c.2620C>G (p.Gln874Glu)
c.2578C>G (p.Gln860Glu)
c.2443C>G (p.Gln815Glu)
c.2575C>G (p.Gln859Glu)
n.329+3434G>C
6g.33443172C>TCA363626193SYNGAP1,SYNGAP1-AS1c.2362C>T (p.Gln788Ter)
c.2620C>T (p.Gln874Ter)
c.2578C>T (p.Gln860Ter)
c.2443C>T (p.Gln815Ter)
c.2575C>T (p.Gln859Ter)
n.329+3434G>A
 dbSNP
6g.33443173A=CA1620014525SYNGAP1,SYNGAP1-AS1c.2363A= (p.Gln788=)
c.2621A= (p.Gln874=)
c.2579A= (p.Gln860=)
c.2444A= (p.Gln815=)
c.2576A= (p.Gln859=)
n.329+3433T=
6g.33443173A>CCA363626202SYNGAP1,SYNGAP1-AS1c.2363A>C (p.Gln788Pro)
c.2621A>C (p.Gln874Pro)
c.2579A>C (p.Gln860Pro)
c.2444A>C (p.Gln815Pro)
c.2576A>C (p.Gln859Pro)
n.329+3433T>G
 dbSNP gnomAD v2 gnomAD v4
6g.33443173A>GCA363626197SYNGAP1,SYNGAP1-AS1c.2363A>G (p.Gln788Arg)
c.2621A>G (p.Gln874Arg)
c.2579A>G (p.Gln860Arg)
c.2444A>G (p.Gln815Arg)
c.2576A>G (p.Gln859Arg)
n.329+3433T>C
6g.33443173A>TCA363626199SYNGAP1,SYNGAP1-AS1c.2363A>T (p.Gln788Leu)
c.2621A>T (p.Gln874Leu)
c.2579A>T (p.Gln860Leu)
c.2444A>T (p.Gln815Leu)
c.2576A>T (p.Gln859Leu)
n.329+3433T>A
6g.33443174G>ACA450103766SYNGAP1,SYNGAP1-AS1c.2364G>A (p.Gln788=)
c.2622G>A (p.Gln874=)
c.2580G>A (p.Gln860=)
c.2445G>A (p.Gln815=)
c.2577G>A (p.Gln859=)
n.329+3432C>T
6g.33443174G>CCA363626204SYNGAP1,SYNGAP1-AS1c.2364G>C (p.Gln788His)
c.2622G>C (p.Gln874His)
c.2580G>C (p.Gln860His)
c.2445G>C (p.Gln815His)
c.2577G>C (p.Gln859His)
n.329+3432C>G
6g.33443174G>TCA363626206SYNGAP1,SYNGAP1-AS1c.2364G>T (p.Gln788His)
c.2622G>T (p.Gln874His)
c.2580G>T (p.Gln860His)
c.2445G>T (p.Gln815His)
c.2577G>T (p.Gln859His)
n.329+3432C>A
6g.33443175G>ACA363626209SYNGAP1,SYNGAP1-AS1c.2365G>A (p.Ala789Thr)
c.2623G>A (p.Ala875Thr)
c.2581G>A (p.Ala861Thr)
c.2446G>A (p.Ala816Thr)
c.2578G>A (p.Ala860Thr)
n.329+3431C>T
 gnomAD v4
6g.33443175G>CCA363626212SYNGAP1,SYNGAP1-AS1c.2365G>C (p.Ala789Pro)
c.2623G>C (p.Ala875Pro)
c.2581G>C (p.Ala861Pro)
c.2446G>C (p.Ala816Pro)
c.2578G>C (p.Ala860Pro)
n.329+3431C>G
 dbSNP
6g.33443175G=CA1620014526SYNGAP1,SYNGAP1-AS1c.2365G= (p.Ala789=)
c.2623G= (p.Ala875=)
c.2581G= (p.Ala861=)
c.2446G= (p.Ala816=)
c.2578G= (p.Ala860=)
n.329+3431C=
6g.33443175G>TCA363626214SYNGAP1,SYNGAP1-AS1c.2365G>T (p.Ala789Ser)
c.2623G>T (p.Ala875Ser)
c.2581G>T (p.Ala861Ser)
c.2446G>T (p.Ala816Ser)
c.2578G>T (p.Ala860Ser)
n.329+3431C>A
6g.33443176C>ACA363626216SYNGAP1,SYNGAP1-AS1c.2366C>A (p.Ala789Asp)
c.2624C>A (p.Ala875Asp)
c.2582C>A (p.Ala861Asp)
c.2447C>A (p.Ala816Asp)
c.2579C>A (p.Ala860Asp)
n.329+3430G>T
6g.33443176C>GCA363626219SYNGAP1,SYNGAP1-AS1c.2366C>G (p.Ala789Gly)
c.2624C>G (p.Ala875Gly)
c.2582C>G (p.Ala861Gly)
c.2447C>G (p.Ala816Gly)
c.2579C>G (p.Ala860Gly)
n.329+3430G>C
6g.33443176C>TCA363626221SYNGAP1,SYNGAP1-AS1c.2366C>T (p.Ala789Val)
c.2624C>T (p.Ala875Val)
c.2582C>T (p.Ala861Val)
c.2447C>T (p.Ala816Val)
c.2579C>T (p.Ala860Val)
n.329+3430G>A
6g.33443177C>ACA450103767SYNGAP1,SYNGAP1-AS1c.2367C>A (p.Ala789=)
c.2625C>A (p.Ala875=)
c.2583C>A (p.Ala861=)
c.2448C>A (p.Ala816=)
c.2580C>A (p.Ala860=)
n.329+3429G>T
6g.33443177C=CA1620014527SYNGAP1,SYNGAP1-AS1c.2367C= (p.Ala789=)
c.2625C= (p.Ala875=)
c.2583C= (p.Ala861=)
c.2448C= (p.Ala816=)
c.2580C= (p.Ala860=)
n.329+3429G=
6g.33443177C>GCA450103768SYNGAP1,SYNGAP1-AS1c.2367C>G (p.Ala789=)
c.2625C>G (p.Ala875=)
c.2583C>G (p.Ala861=)
c.2448C>G (p.Ala816=)
c.2580C>G (p.Ala860=)
n.329+3429G>C
6g.33443177C>TCA3758927SYNGAP1,SYNGAP1-AS1c.2367C>T (p.Ala789=)
c.2625C>T (p.Ala875=)
c.2583C>T (p.Ala861=)
c.2448C>T (p.Ala816=)
c.2580C>T (p.Ala860=)
n.329+3429G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.33443178T>ACA363626228SYNGAP1,SYNGAP1-AS1c.2368T>A (p.Ser790Thr)
c.2626T>A (p.Ser876Thr)
c.2584T>A (p.Ser862Thr)
c.2449T>A (p.Ser817Thr)
c.2581T>A (p.Ser861Thr)
n.329+3428A>T
6g.33443178T>CCA363626230SYNGAP1,SYNGAP1-AS1c.2368T>C (p.Ser790Pro)
c.2626T>C (p.Ser876Pro)
c.2584T>C (p.Ser862Pro)
c.2449T>C (p.Ser817Pro)
c.2581T>C (p.Ser861Pro)
n.329+3428A>G
6g.33443178T>GCA363626231SYNGAP1,SYNGAP1-AS1c.2368T>G (p.Ser790Ala)
c.2626T>G (p.Ser876Ala)
c.2584T>G (p.Ser862Ala)
c.2449T>G (p.Ser817Ala)
c.2581T>G (p.Ser861Ala)
n.329+3428A>C
6g.33443179C>ACA363626233SYNGAP1,SYNGAP1-AS1c.2369C>A (p.Ser790Ter)
c.2627C>A (p.Ser876Ter)
c.2585C>A (p.Ser862Ter)
c.2450C>A (p.Ser817Ter)
c.2582C>A (p.Ser861Ter)
n.329+3427G>T
6g.33443179C>GCA363626237SYNGAP1,SYNGAP1-AS1c.2369C>G (p.Ser790Trp)
c.2627C>G (p.Ser876Trp)
c.2585C>G (p.Ser862Trp)
c.2450C>G (p.Ser817Trp)
c.2582C>G (p.Ser861Trp)
n.329+3427G>C
 gnomAD v4
6g.33443179C>TCA363626234SYNGAP1,SYNGAP1-AS1c.2369C>T (p.Ser790Leu)
c.2627C>T (p.Ser876Leu)
c.2585C>T (p.Ser862Leu)
c.2450C>T (p.Ser817Leu)
c.2582C>T (p.Ser861Leu)
n.329+3427G>A
 ClinVar
6g.33443180G>ACA3758928SYNGAP1,SYNGAP1-AS1c.2370G>A (p.Ser790=)
c.2628G>A (p.Ser876=)
c.2586G>A (p.Ser862=)
c.2451G>A (p.Ser817=)
c.2583G>A (p.Ser861=)
n.329+3426C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.33443180G>CCA450103769SYNGAP1,SYNGAP1-AS1c.2370G>C (p.Ser790=)
c.2628G>C (p.Ser876=)
c.2586G>C (p.Ser862=)
c.2451G>C (p.Ser817=)
c.2583G>C (p.Ser861=)
n.329+3426C>G
 dbSNP gnomAD v2 gnomAD v4
6g.33443180G=CA1620014528SYNGAP1,SYNGAP1-AS1c.2370G= (p.Ser790=)
c.2628G= (p.Ser876=)
c.2586G= (p.Ser862=)
c.2451G= (p.Ser817=)
c.2583G= (p.Ser861=)
n.329+3426C=
6g.33443180G>TCA450103770SYNGAP1,SYNGAP1-AS1c.2370G>T (p.Ser790=)
c.2628G>T (p.Ser876=)
c.2586G>T (p.Ser862=)
c.2451G>T (p.Ser817=)
c.2583G>T (p.Ser861=)
n.329+3426C>A
6g.33443181C>ACA363626246SYNGAP1,SYNGAP1-AS1c.2371C>A (p.Leu791Met)
c.2629C>A (p.Leu877Met)
c.2587C>A (p.Leu863Met)
c.2452C>A (p.Leu818Met)
c.2584C>A (p.Leu862Met)
n.329+3425G>T
6g.33443181C=CA1620014529SYNGAP1,SYNGAP1-AS1c.2371C= (p.Leu791=)
c.2629C= (p.Leu877=)
c.2587C= (p.Leu863=)
c.2452C= (p.Leu818=)
c.2584C= (p.Leu862=)
n.329+3425G=
6g.33443181C>GCA363626243SYNGAP1,SYNGAP1-AS1c.2371C>G (p.Leu791Val)
c.2629C>G (p.Leu877Val)
c.2587C>G (p.Leu863Val)
c.2452C>G (p.Leu818Val)
c.2584C>G (p.Leu862Val)
n.329+3425G>C
6g.33443181C>TCA450103771SYNGAP1,SYNGAP1-AS1c.2371C>T (p.Leu791=)
c.2629C>T (p.Leu877=)
c.2587C>T (p.Leu863=)
c.2452C>T (p.Leu818=)
c.2584C>T (p.Leu862=)
n.329+3425G>A
 dbSNP gnomAD v3 gnomAD v4
6g.33443181_33443182delCA2695202918SYNGAP1,SYNGAP1-AS1c.2371_2372del (p.Leu791AspfsTer?)
c.2629_2630del (p.Leu877AspfsTer?)
c.2587_2588del (p.Leu863AspfsTer?)
c.2452_2453del (p.Leu818AspfsTer?)
c.2584_2585del (p.Leu862AspfsTer?)
n.329+3424_329+3425del
6g.33443182T>ACA363626248SYNGAP1,SYNGAP1-AS1c.2372T>A (p.Leu791Gln)
c.2630T>A (p.Leu877Gln)
c.2588T>A (p.Leu863Gln)
c.2453T>A (p.Leu818Gln)
c.2585T>A (p.Leu862Gln)
n.329+3424A>T
6g.33443182T>CCA363626251SYNGAP1,SYNGAP1-AS1c.2372T>C (p.Leu791Pro)
c.2630T>C (p.Leu877Pro)
c.2588T>C (p.Leu863Pro)
c.2453T>C (p.Leu818Pro)
c.2585T>C (p.Leu862Pro)
n.329+3424A>G
6g.33443182T>GCA363626253SYNGAP1,SYNGAP1-AS1c.2372T>G (p.Leu791Arg)
c.2630T>G (p.Leu877Arg)
c.2588T>G (p.Leu863Arg)
c.2453T>G (p.Leu818Arg)
c.2585T>G (p.Leu862Arg)
n.329+3424A>C
6g.33443182dupCA658761547SYNGAP1,SYNGAP1-AS1c.2372dup (p.Thr792AspfsTer?)
c.2630dup (p.Thr878AspfsTer?)
c.2588dup (p.Thr864AspfsTer?)
c.2453dup (p.Thr819AspfsTer?)
c.2585dup (p.Thr863AspfsTer?)
n.329+3424dup
6g.33443183G>ACA450103772SYNGAP1,SYNGAP1-AS1c.2373G>A (p.Leu791=)
c.2631G>A (p.Leu877=)
c.2589G>A (p.Leu863=)
c.2454G>A (p.Leu818=)
c.2586G>A (p.Leu862=)
n.329+3423C>T
6g.33443183G>CCA450103773SYNGAP1,SYNGAP1-AS1c.2373G>C (p.Leu791=)
c.2631G>C (p.Leu877=)
c.2589G>C (p.Leu863=)
c.2454G>C (p.Leu818=)
c.2586G>C (p.Leu862=)
n.329+3423C>G
6g.33443183G>TCA450103774SYNGAP1,SYNGAP1-AS1c.2373G>T (p.Leu791=)
c.2631G>T (p.Leu877=)
c.2589G>T (p.Leu863=)
c.2454G>T (p.Leu818=)
c.2586G>T (p.Leu862=)
n.329+3423C>A
6g.33443184A>CCA363626256SYNGAP1,SYNGAP1-AS1c.2374A>C (p.Thr792Pro)
c.2632A>C (p.Thr878Pro)
c.2590A>C (p.Thr864Pro)
c.2455A>C (p.Thr819Pro)
c.2587A>C (p.Thr863Pro)
n.329+3422T>G
6g.33443184A>GCA363626259SYNGAP1,SYNGAP1-AS1c.2374A>G (p.Thr792Ala)
c.2632A>G (p.Thr878Ala)
c.2590A>G (p.Thr864Ala)
c.2455A>G (p.Thr819Ala)
c.2587A>G (p.Thr863Ala)
n.329+3422T>C
 ClinVar
6g.33443184A>TCA363626261SYNGAP1,SYNGAP1-AS1c.2374A>T (p.Thr792Ser)
c.2632A>T (p.Thr878Ser)
c.2590A>T (p.Thr864Ser)
c.2455A>T (p.Thr819Ser)
c.2587A>T (p.Thr863Ser)
n.329+3422T>A
6g.33443185C>ACA363626265SYNGAP1,SYNGAP1-AS1c.2375C>A (p.Thr792Lys)
c.2633C>A (p.Thr878Lys)
c.2591C>A (p.Thr864Lys)
c.2456C>A (p.Thr819Lys)
c.2588C>A (p.Thr863Lys)
n.329+3421G>T
6g.33443185C>GCA363626276SYNGAP1,SYNGAP1-AS1c.2375C>G (p.Thr792Arg)
c.2633C>G (p.Thr878Arg)
c.2591C>G (p.Thr864Arg)
c.2456C>G (p.Thr819Arg)
c.2588C>G (p.Thr863Arg)
n.329+3421G>C
6g.33443185C>TCA363626278SYNGAP1,SYNGAP1-AS1c.2375C>T (p.Thr792Ile)
c.2633C>T (p.Thr878Ile)
c.2591C>T (p.Thr864Ile)
c.2456C>T (p.Thr819Ile)
c.2588C>T (p.Thr863Ile)
n.329+3421G>A
6g.33443186A>CCA450103775SYNGAP1,SYNGAP1-AS1c.2376A>C (p.Thr792=)
c.2634A>C (p.Thr878=)
c.2592A>C (p.Thr864=)
c.2457A>C (p.Thr819=)
c.2589A>C (p.Thr863=)
n.329+3420T>G
6g.33443186A>GCA450103776SYNGAP1,SYNGAP1-AS1c.2376A>G (p.Thr792=)
c.2634A>G (p.Thr878=)
c.2592A>G (p.Thr864=)
c.2457A>G (p.Thr819=)
c.2589A>G (p.Thr863=)
n.329+3420T>C
6g.33443186A>TCA450103777SYNGAP1,SYNGAP1-AS1c.2376A>T (p.Thr792=)
c.2634A>T (p.Thr878=)
c.2592A>T (p.Thr864=)
c.2457A>T (p.Thr819=)
c.2589A>T (p.Thr863=)
n.329+3420T>A
6g.33443187G>ACA363626282SYNGAP1,SYNGAP1-AS1c.2377G>A (p.Ala793Thr)
c.2635G>A (p.Ala879Thr)
c.2593G>A (p.Ala865Thr)
c.2458G>A (p.Ala820Thr)
c.2590G>A (p.Ala864Thr)
n.329+3419C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.33443187G>CCA363626284SYNGAP1,SYNGAP1-AS1c.2377G>C (p.Ala793Pro)
c.2635G>C (p.Ala879Pro)
c.2593G>C (p.Ala865Pro)
c.2458G>C (p.Ala820Pro)
c.2590G>C (p.Ala864Pro)
n.329+3419C>G
6g.33443187G=CA1620014530SYNGAP1,SYNGAP1-AS1c.2377G= (p.Ala793=)
c.2635G= (p.Ala879=)
c.2593G= (p.Ala865=)
c.2458G= (p.Ala820=)
c.2590G= (p.Ala864=)
n.329+3419C=
6g.33443187G>TCA363626287SYNGAP1,SYNGAP1-AS1c.2377G>T (p.Ala793Ser)
c.2635G>T (p.Ala879Ser)
c.2593G>T (p.Ala865Ser)
c.2458G>T (p.Ala820Ser)
c.2590G>T (p.Ala864Ser)
n.329+3419C>A
6g.33443187_33443188delinsAACA891843216SYNGAP1,SYNGAP1-AS1c.2377_2378delinsAA (p.Ala793Lys)
c.2635_2636delinsAA (p.Ala879Lys)
c.2593_2594delinsAA (p.Ala865Lys)
c.2458_2459delinsAA (p.Ala820Lys)
c.2590_2591delinsAA (p.Ala864Lys)
n.329+3418_329+3419delinsTT
 ClinVar dbSNP
6g.33443187_33443188delinsGCCA1620014531SYNGAP1,SYNGAP1-AS1c.2377_2378delinsGC (p.Ala793=)
c.2635_2636delinsGC (p.Ala879=)
c.2593_2594delinsGC (p.Ala865=)
c.2458_2459delinsGC (p.Ala820=)
c.2590_2591delinsGC (p.Ala864=)
n.329+3418_329+3419delinsGC
6g.33443188C>ACA363626299SYNGAP1,SYNGAP1-AS1c.2378C>A (p.Ala793Glu)
c.2636C>A (p.Ala879Glu)
c.2594C>A (p.Ala865Glu)
c.2459C>A (p.Ala820Glu)
c.2591C>A (p.Ala864Glu)
n.329+3418G>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.33443188C=CA1620014532SYNGAP1,SYNGAP1-AS1c.2378C= (p.Ala793=)
c.2636C= (p.Ala879=)
c.2594C= (p.Ala865=)
c.2459C= (p.Ala820=)
c.2591C= (p.Ala864=)
n.329+3418G=
6g.33443188C>GCA363626305SYNGAP1,SYNGAP1-AS1c.2378C>G (p.Ala793Gly)
c.2636C>G (p.Ala879Gly)
c.2594C>G (p.Ala865Gly)
c.2459C>G (p.Ala820Gly)
c.2591C>G (p.Ala864Gly)
n.329+3418G>C
 gnomAD v4
6g.33443188C>TCA363626301SYNGAP1,SYNGAP1-AS1c.2378C>T (p.Ala793Val)
c.2636C>T (p.Ala879Val)
c.2594C>T (p.Ala865Val)
c.2459C>T (p.Ala820Val)
c.2591C>T (p.Ala864Val)
n.329+3418G>A
6g.33443189A>CCA450103780SYNGAP1,SYNGAP1-AS1c.2379A>C (p.Ala793=)
c.2637A>C (p.Ala879=)
c.2595A>C (p.Ala865=)
c.2460A>C (p.Ala820=)
c.2592A>C (p.Ala864=)
n.329+3417T>G
6g.33443189A>GCA450103779SYNGAP1,SYNGAP1-AS1c.2379A>G (p.Ala793=)
c.2637A>G (p.Ala879=)
c.2595A>G (p.Ala865=)
c.2460A>G (p.Ala820=)
c.2592A>G (p.Ala864=)
n.329+3417T>C
6g.33443189A>TCA450103778SYNGAP1,SYNGAP1-AS1c.2379A>T (p.Ala793=)
c.2637A>T (p.Ala879=)
c.2595A>T (p.Ala865=)
c.2460A>T (p.Ala820=)
c.2592A>T (p.Ala864=)
n.329+3417T>A
6g.33443190G>ACA363626310SYNGAP1,SYNGAP1-AS1c.2380G>A (p.Ala794Thr)
c.2638G>A (p.Ala880Thr)
c.2596G>A (p.Ala866Thr)
c.2461G>A (p.Ala821Thr)
c.2593G>A (p.Ala865Thr)
n.329+3416C>T
6g.33443190G>CCA363626313SYNGAP1,SYNGAP1-AS1c.2380G>C (p.Ala794Pro)
c.2638G>C (p.Ala880Pro)
c.2596G>C (p.Ala866Pro)
c.2461G>C (p.Ala821Pro)
c.2593G>C (p.Ala865Pro)
n.329+3416C>G
6g.33443190G>TCA363626315SYNGAP1,SYNGAP1-AS1c.2380G>T (p.Ala794Ser)
c.2638G>T (p.Ala880Ser)
c.2596G>T (p.Ala866Ser)
c.2461G>T (p.Ala821Ser)
c.2593G>T (p.Ala865Ser)
n.329+3416C>A
6g.33443191C>ACA363626319SYNGAP1,SYNGAP1-AS1c.2381C>A (p.Ala794Asp)
c.2639C>A (p.Ala880Asp)
c.2597C>A (p.Ala866Asp)
c.2462C>A (p.Ala821Asp)
c.2594C>A (p.Ala865Asp)
n.329+3415G>T
6g.33443191C>GCA363626325SYNGAP1,SYNGAP1-AS1c.2381C>G (p.Ala794Gly)
c.2639C>G (p.Ala880Gly)
c.2597C>G (p.Ala866Gly)
c.2462C>G (p.Ala821Gly)
c.2594C>G (p.Ala865Gly)
n.329+3415G>C
 gnomAD v4
6g.33443191C>TCA363626327SYNGAP1,SYNGAP1-AS1c.2381C>T (p.Ala794Val)
c.2639C>T (p.Ala880Val)
c.2597C>T (p.Ala866Val)
c.2462C>T (p.Ala821Val)
c.2594C>T (p.Ala865Val)
n.329+3415G>A
 gnomAD v4
6g.33443192C>ACA450103781SYNGAP1,SYNGAP1-AS1c.2382C>A (p.Ala794=)
c.2640C>A (p.Ala880=)
c.2598C>A (p.Ala866=)
c.2463C>A (p.Ala821=)
c.2595C>A (p.Ala865=)
n.329+3414G>T
6g.33443192C>GCA450103782SYNGAP1,SYNGAP1-AS1c.2382C>G (p.Ala794=)
c.2640C>G (p.Ala880=)
c.2598C>G (p.Ala866=)
c.2463C>G (p.Ala821=)
c.2595C>G (p.Ala865=)
n.329+3414G>C
6g.33443192C>TCA450103783SYNGAP1,SYNGAP1-AS1c.2382C>T (p.Ala794=)
c.2640C>T (p.Ala880=)
c.2598C>T (p.Ala866=)
c.2463C>T (p.Ala821=)
c.2595C>T (p.Ala865=)
n.329+3414G>A
6g.33443193T>ACA363626329SYNGAP1,SYNGAP1-AS1c.2383T>A (p.Leu795Met)
c.2641T>A (p.Leu881Met)
c.2599T>A (p.Leu867Met)
c.2464T>A (p.Leu822Met)
c.2596T>A (p.Leu866Met)
n.329+3413A>T
6g.33443193T>CCA450103784SYNGAP1,SYNGAP1-AS1c.2383T>C (p.Leu795=)
c.2641T>C (p.Leu881=)
c.2599T>C (p.Leu867=)
c.2464T>C (p.Leu822=)
c.2596T>C (p.Leu866=)
n.329+3413A>G
6g.33443193T>GCA363626331SYNGAP1,SYNGAP1-AS1c.2383T>G (p.Leu795Val)
c.2641T>G (p.Leu881Val)
c.2599T>G (p.Leu867Val)
c.2464T>G (p.Leu822Val)
c.2596T>G (p.Leu866Val)
n.329+3413A>C
6g.33443194T>ACA363626335SYNGAP1,SYNGAP1-AS1c.2384T>A (p.Leu795Ter)
c.2642T>A (p.Leu881Ter)
c.2600T>A (p.Leu867Ter)
c.2465T>A (p.Leu822Ter)
c.2597T>A (p.Leu866Ter)
n.329+3412A>T
 dbSNP
6g.33443194T>CCA363626338SYNGAP1,SYNGAP1-AS1c.2384T>C (p.Leu795Ser)
c.2642T>C (p.Leu881Ser)
c.2600T>C (p.Leu867Ser)
c.2465T>C (p.Leu822Ser)
c.2597T>C (p.Leu866Ser)
n.329+3412A>G
6g.33443194T>GCA363626340SYNGAP1,SYNGAP1-AS1c.2384T>G (p.Leu795Trp)
c.2642T>G (p.Leu881Trp)
c.2600T>G (p.Leu867Trp)
c.2465T>G (p.Leu822Trp)
c.2597T>G (p.Leu866Trp)
n.329+3412A>C
6g.33443194T=CA1620014533SYNGAP1,SYNGAP1-AS1c.2384T= (p.Leu795=)
c.2642T= (p.Leu881=)
c.2600T= (p.Leu867=)
c.2465T= (p.Leu822=)
c.2597T= (p.Leu866=)
n.329+3412A=
6g.33443195G>ACA450103785SYNGAP1,SYNGAP1-AS1c.2385G>A (p.Leu795=)
c.2643G>A (p.Leu881=)
c.2601G>A (p.Leu867=)
c.2466G>A (p.Leu822=)
c.2598G>A (p.Leu866=)
n.329+3411C>T
6g.33443195G>CCA363626342SYNGAP1,SYNGAP1-AS1c.2385G>C (p.Leu795Phe)
c.2643G>C (p.Leu881Phe)
c.2601G>C (p.Leu867Phe)
c.2466G>C (p.Leu822Phe)
c.2598G>C (p.Leu866Phe)
n.329+3411C>G
6g.33443195G>TCA363626345SYNGAP1,SYNGAP1-AS1c.2385G>T (p.Leu795Phe)
c.2643G>T (p.Leu881Phe)
c.2601G>T (p.Leu867Phe)
c.2466G>T (p.Leu822Phe)
c.2598G>T (p.Leu866Phe)
n.329+3411C>A
6g.33443196G>ACA363626349SYNGAP1,SYNGAP1-AS1c.2386G>A (p.Gly796Arg)
c.2644G>A (p.Gly882Arg)
c.2602G>A (p.Gly868Arg)
c.2467G>A (p.Gly823Arg)
c.2599G>A (p.Gly867Arg)
n.329+3410C>T
6g.33443196G>CCA363626351SYNGAP1,SYNGAP1-AS1c.2386G>C (p.Gly796Arg)
c.2644G>C (p.Gly882Arg)
c.2602G>C (p.Gly868Arg)
c.2467G>C (p.Gly823Arg)
c.2599G>C (p.Gly867Arg)
n.329+3410C>G
6g.33443196G>TCA363626354SYNGAP1,SYNGAP1-AS1c.2386G>T (p.Gly796Trp)
c.2644G>T (p.Gly882Trp)
c.2602G>T (p.Gly868Trp)
c.2467G>T (p.Gly823Trp)
c.2599G>T (p.Gly867Trp)
n.329+3410C>A
6g.33443197G>ACA363626356SYNGAP1,SYNGAP1-AS1c.2387G>A (p.Gly796Glu)
c.2645G>A (p.Gly882Glu)
c.2603G>A (p.Gly868Glu)
c.2468G>A (p.Gly823Glu)
c.2600G>A (p.Gly867Glu)
n.329+3409C>T
6g.33443197G>CCA363626358SYNGAP1,SYNGAP1-AS1c.2387G>C (p.Gly796Ala)
c.2645G>C (p.Gly882Ala)
c.2603G>C (p.Gly868Ala)
c.2468G>C (p.Gly823Ala)
c.2600G>C (p.Gly867Ala)
n.329+3409C>G
6g.33443197G>TCA363626362SYNGAP1,SYNGAP1-AS1c.2387G>T (p.Gly796Val)
c.2645G>T (p.Gly882Val)
c.2603G>T (p.Gly868Val)
c.2468G>T (p.Gly823Val)
c.2600G>T (p.Gly867Val)
n.329+3409C>A
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

Number of alleles fetched