Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.33443112_33443129delCA913110434SYNGAP1,SYNGAP1-AS1c.2302_2319del (p.Arg768_Ser773del)
c.2560_2577del (p.Arg854_Ser859del)
c.2518_2535del (p.Arg840_Ser845del)
c.2383_2400del (p.Arg795_Ser800del)
c.2515_2532del (p.Arg839_Ser844del)
n.329+3477_329+3494del
6g.33443112_33443129delinsCGCCTCAACAGCAGCAGTCA1620014497SYNGAP1,SYNGAP1-AS1c.2302_2319delinsCGCCTCAACAGCAGCAGT (p.Arg768=)
c.2560_2577delinsCGCCTCAACAGCAGCAGT (p.Arg854=)
c.2518_2535delinsCGCCTCAACAGCAGCAGT (p.Arg840=)
c.2383_2400delinsCGCCTCAACAGCAGCAGT (p.Arg795=)
c.2515_2532delinsCGCCTCAACAGCAGCAGT (p.Arg839=)
n.329+3477_329+3494delinsACTGCTGCTGTTGAGGCG
6g.33443113G>ACA363625869SYNGAP1,SYNGAP1-AS1c.2303G>A (p.Arg768His)
c.2561G>A (p.Arg854His)
c.2519G>A (p.Arg840His)
c.2384G>A (p.Arg795His)
c.2516G>A (p.Arg839His)
n.329+3493C>T
 ClinVar dbSNP gnomAD v4 COSMIC COSMIC
6g.33443113G>CCA363625872SYNGAP1,SYNGAP1-AS1c.2303G>C (p.Arg768Pro)
c.2561G>C (p.Arg854Pro)
c.2519G>C (p.Arg840Pro)
c.2384G>C (p.Arg795Pro)
c.2516G>C (p.Arg839Pro)
n.329+3493C>G
6g.33443113G=CA1620014499SYNGAP1,SYNGAP1-AS1c.2303G= (p.Arg768=)
c.2561G= (p.Arg854=)
c.2519G= (p.Arg840=)
c.2384G= (p.Arg795=)
c.2516G= (p.Arg839=)
n.329+3493C=
6g.33443113G>TCA363625875SYNGAP1,SYNGAP1-AS1c.2303G>T (p.Arg768Leu)
c.2561G>T (p.Arg854Leu)
c.2519G>T (p.Arg840Leu)
c.2384G>T (p.Arg795Leu)
c.2516G>T (p.Arg839Leu)
n.329+3493C>A
6g.33443114_33443130delCA658822623SYNGAP1,SYNGAP1-AS1c.2304_2320del (p.Leu769PhefsTer?)
c.2562_2578del (p.Leu855PhefsTer?)
c.2520_2536del (p.Leu841PhefsTer?)
c.2385_2401del (p.Leu796PhefsTer?)
c.2517_2533del (p.Leu840PhefsTer?)
n.329+3477_329+3493del
 ClinVar dbSNP
6g.33443114C>ACA450103725SYNGAP1,SYNGAP1-AS1c.2304C>A (p.Arg768=)
c.2562C>A (p.Arg854=)
c.2520C>A (p.Arg840=)
c.2385C>A (p.Arg795=)
c.2517C>A (p.Arg839=)
n.329+3492G>T
6g.33443114C=CA1620014500SYNGAP1,SYNGAP1-AS1c.2304C= (p.Arg768=)
c.2562C= (p.Arg854=)
c.2520C= (p.Arg840=)
c.2385C= (p.Arg795=)
c.2517C= (p.Arg839=)
n.329+3492G=
6g.33443114C>GCA450103726SYNGAP1,SYNGAP1-AS1c.2304C>G (p.Arg768=)
c.2562C>G (p.Arg854=)
c.2520C>G (p.Arg840=)
c.2385C>G (p.Arg795=)
c.2517C>G (p.Arg839=)
n.329+3492G>C
6g.33443114C>TCA137072810SYNGAP1,SYNGAP1-AS1c.2304C>T (p.Arg768=)
c.2562C>T (p.Arg854=)
c.2520C>T (p.Arg840=)
c.2385C>T (p.Arg795=)
c.2517C>T (p.Arg839=)
n.329+3492G>A
 ClinVar dbSNP gnomAD v4
6g.33443115C>ACA363625877SYNGAP1,SYNGAP1-AS1c.2305C>A (p.Leu769Ile)
c.2563C>A (p.Leu855Ile)
c.2521C>A (p.Leu841Ile)
c.2386C>A (p.Leu796Ile)
c.2518C>A (p.Leu840Ile)
n.329+3491G>T
6g.33443115C=CA1620014501SYNGAP1,SYNGAP1-AS1c.2305C= (p.Leu769=)
c.2563C= (p.Leu855=)
c.2521C= (p.Leu841=)
c.2386C= (p.Leu796=)
c.2518C= (p.Leu840=)
n.329+3491G=
6g.33443115C>GCA363625879SYNGAP1,SYNGAP1-AS1c.2305C>G (p.Leu769Val)
c.2563C>G (p.Leu855Val)
c.2521C>G (p.Leu841Val)
c.2386C>G (p.Leu796Val)
c.2518C>G (p.Leu840Val)
n.329+3491G>C
 dbSNP
6g.33443115C>TCA363625880SYNGAP1,SYNGAP1-AS1c.2305C>T (p.Leu769Phe)
c.2563C>T (p.Leu855Phe)
c.2521C>T (p.Leu841Phe)
c.2386C>T (p.Leu796Phe)
c.2518C>T (p.Leu840Phe)
n.329+3491G>A
6g.33443116T>ACA363625883SYNGAP1,SYNGAP1-AS1c.2306T>A (p.Leu769His)
c.2564T>A (p.Leu855His)
c.2522T>A (p.Leu841His)
c.2387T>A (p.Leu796His)
c.2519T>A (p.Leu840His)
n.329+3490A>T
6g.33443116T>CCA363625887SYNGAP1,SYNGAP1-AS1c.2306T>C (p.Leu769Pro)
c.2564T>C (p.Leu855Pro)
c.2522T>C (p.Leu841Pro)
c.2387T>C (p.Leu796Pro)
c.2519T>C (p.Leu840Pro)
n.329+3490A>G
6g.33443116T>GCA363625885SYNGAP1,SYNGAP1-AS1c.2306T>G (p.Leu769Arg)
c.2564T>G (p.Leu855Arg)
c.2522T>G (p.Leu841Arg)
c.2387T>G (p.Leu796Arg)
c.2519T>G (p.Leu840Arg)
n.329+3490A>C
6g.33443117C>ACA450103727SYNGAP1,SYNGAP1-AS1c.2307C>A (p.Leu769=)
c.2565C>A (p.Leu855=)
c.2523C>A (p.Leu841=)
c.2388C>A (p.Leu796=)
c.2520C>A (p.Leu840=)
n.329+3489G>T
6g.33443117C=CA1620014502SYNGAP1,SYNGAP1-AS1c.2307C= (p.Leu769=)
c.2565C= (p.Leu855=)
c.2523C= (p.Leu841=)
c.2388C= (p.Leu796=)
c.2520C= (p.Leu840=)
n.329+3489G=
6g.33443117C>GCA450103728SYNGAP1,SYNGAP1-AS1c.2307C>G (p.Leu769=)
c.2565C>G (p.Leu855=)
c.2523C>G (p.Leu841=)
c.2388C>G (p.Leu796=)
c.2520C>G (p.Leu840=)
n.329+3489G>C
6g.33443117C>TCA3758917SYNGAP1,SYNGAP1-AS1c.2307C>T (p.Leu769=)
c.2565C>T (p.Leu855=)
c.2523C>T (p.Leu841=)
c.2388C>T (p.Leu796=)
c.2520C>T (p.Leu840=)
n.329+3489G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.33443118A>CCA363625893SYNGAP1,SYNGAP1-AS1c.2308A>C (p.Asn770His)
c.2566A>C (p.Asn856His)
c.2524A>C (p.Asn842His)
c.2389A>C (p.Asn797His)
c.2521A>C (p.Asn841His)
n.329+3488T>G
6g.33443118A>GCA363625895SYNGAP1,SYNGAP1-AS1c.2308A>G (p.Asn770Asp)
c.2566A>G (p.Asn856Asp)
c.2524A>G (p.Asn842Asp)
c.2389A>G (p.Asn797Asp)
c.2521A>G (p.Asn841Asp)
n.329+3488T>C
6g.33443118A>TCA363625897SYNGAP1,SYNGAP1-AS1c.2308A>T (p.Asn770Tyr)
c.2566A>T (p.Asn856Tyr)
c.2524A>T (p.Asn842Tyr)
c.2389A>T (p.Asn797Tyr)
c.2521A>T (p.Asn841Tyr)
n.329+3488T>A
6g.33443119A=CA1620014503SYNGAP1,SYNGAP1-AS1c.2309A= (p.Asn770=)
c.2567A= (p.Asn856=)
c.2525A= (p.Asn842=)
c.2390A= (p.Asn797=)
c.2522A= (p.Asn841=)
n.329+3487T=
6g.33443119A>CCA363625900SYNGAP1,SYNGAP1-AS1c.2309A>C (p.Asn770Thr)
c.2567A>C (p.Asn856Thr)
c.2525A>C (p.Asn842Thr)
c.2390A>C (p.Asn797Thr)
c.2522A>C (p.Asn841Thr)
n.329+3487T>G
6g.33443119A>GCA3758918SYNGAP1,SYNGAP1-AS1c.2309A>G (p.Asn770Ser)
c.2567A>G (p.Asn856Ser)
c.2525A>G (p.Asn842Ser)
c.2390A>G (p.Asn797Ser)
c.2522A>G (p.Asn841Ser)
n.329+3487T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.33443119A>TCA363625902SYNGAP1,SYNGAP1-AS1c.2309A>T (p.Asn770Ile)
c.2567A>T (p.Asn856Ile)
c.2525A>T (p.Asn842Ile)
c.2390A>T (p.Asn797Ile)
c.2522A>T (p.Asn841Ile)
n.329+3487T>A
6g.33443120C>ACA363625907SYNGAP1,SYNGAP1-AS1c.2310C>A (p.Asn770Lys)
c.2568C>A (p.Asn856Lys)
c.2526C>A (p.Asn842Lys)
c.2391C>A (p.Asn797Lys)
c.2523C>A (p.Asn841Lys)
n.329+3486G>T
6g.33443120C=CA1620014504SYNGAP1,SYNGAP1-AS1c.2310C= (p.Asn770=)
c.2568C= (p.Asn856=)
c.2526C= (p.Asn842=)
c.2391C= (p.Asn797=)
c.2523C= (p.Asn841=)
n.329+3486G=
6g.33443120C>GCA363625909SYNGAP1,SYNGAP1-AS1c.2310C>G (p.Asn770Lys)
c.2568C>G (p.Asn856Lys)
c.2526C>G (p.Asn842Lys)
c.2391C>G (p.Asn797Lys)
c.2523C>G (p.Asn841Lys)
n.329+3486G>C
6g.33443120C>TCA3758919SYNGAP1,SYNGAP1-AS1c.2310C>T (p.Asn770=)
c.2568C>T (p.Asn856=)
c.2526C>T (p.Asn842=)
c.2391C>T (p.Asn797=)
c.2523C>T (p.Asn841=)
n.329+3486G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.33443121A>CCA363625915SYNGAP1,SYNGAP1-AS1c.2311A>C (p.Ser771Arg)
c.2569A>C (p.Ser857Arg)
c.2527A>C (p.Ser843Arg)
c.2392A>C (p.Ser798Arg)
c.2524A>C (p.Ser842Arg)
n.329+3485T>G
6g.33443121A>GCA363625917SYNGAP1,SYNGAP1-AS1c.2311A>G (p.Ser771Gly)
c.2569A>G (p.Ser857Gly)
c.2527A>G (p.Ser843Gly)
c.2392A>G (p.Ser798Gly)
c.2524A>G (p.Ser842Gly)
n.329+3485T>C
6g.33443121A>TCA363625920SYNGAP1,SYNGAP1-AS1c.2311A>T (p.Ser771Cys)
c.2569A>T (p.Ser857Cys)
c.2527A>T (p.Ser843Cys)
c.2392A>T (p.Ser798Cys)
c.2524A>T (p.Ser842Cys)
n.329+3485T>A
6g.33443122G>ACA363625923SYNGAP1,SYNGAP1-AS1c.2312G>A (p.Ser771Asn)
c.2570G>A (p.Ser857Asn)
c.2528G>A (p.Ser843Asn)
c.2393G>A (p.Ser798Asn)
c.2525G>A (p.Ser842Asn)
n.329+3484C>T
6g.33443122G>CCA363625930SYNGAP1,SYNGAP1-AS1c.2312G>C (p.Ser771Thr)
c.2570G>C (p.Ser857Thr)
c.2528G>C (p.Ser843Thr)
c.2393G>C (p.Ser798Thr)
c.2525G>C (p.Ser842Thr)
n.329+3484C>G
6g.33443122G>TCA363625933SYNGAP1,SYNGAP1-AS1c.2312G>T (p.Ser771Ile)
c.2570G>T (p.Ser857Ile)
c.2528G>T (p.Ser843Ile)
c.2393G>T (p.Ser798Ile)
c.2525G>T (p.Ser842Ile)
n.329+3484C>A
6g.33443123C>ACA363625935SYNGAP1,SYNGAP1-AS1c.2313C>A (p.Ser771Arg)
c.2571C>A (p.Ser857Arg)
c.2529C>A (p.Ser843Arg)
c.2394C>A (p.Ser798Arg)
c.2526C>A (p.Ser842Arg)
n.329+3483G>T
6g.33443123C>GCA363625937SYNGAP1,SYNGAP1-AS1c.2313C>G (p.Ser771Arg)
c.2571C>G (p.Ser857Arg)
c.2529C>G (p.Ser843Arg)
c.2394C>G (p.Ser798Arg)
c.2526C>G (p.Ser842Arg)
n.329+3483G>C
6g.33443123C>TCA450103729SYNGAP1,SYNGAP1-AS1c.2313C>T (p.Ser771=)
c.2571C>T (p.Ser857=)
c.2529C>T (p.Ser843=)
c.2394C>T (p.Ser798=)
c.2526C>T (p.Ser842=)
n.329+3483G>A
 ClinVar
6g.33443124A>CCA363625944SYNGAP1,SYNGAP1-AS1c.2314A>C (p.Ser772Arg)
c.2572A>C (p.Ser858Arg)
c.2530A>C (p.Ser844Arg)
c.2395A>C (p.Ser799Arg)
c.2527A>C (p.Ser843Arg)
n.329+3482T>G
6g.33443124A>GCA363625946SYNGAP1,SYNGAP1-AS1c.2314A>G (p.Ser772Gly)
c.2572A>G (p.Ser858Gly)
c.2530A>G (p.Ser844Gly)
c.2395A>G (p.Ser799Gly)
c.2527A>G (p.Ser843Gly)
n.329+3482T>C
6g.33443124A>TCA363625942SYNGAP1,SYNGAP1-AS1c.2314A>T (p.Ser772Cys)
c.2572A>T (p.Ser858Cys)
c.2530A>T (p.Ser844Cys)
c.2395A>T (p.Ser799Cys)
c.2527A>T (p.Ser843Cys)
n.329+3482T>A
6g.33443125G>ACA3758920SYNGAP1,SYNGAP1-AS1c.2315G>A (p.Ser772Asn)
c.2573G>A (p.Ser858Asn)
c.2531G>A (p.Ser844Asn)
c.2396G>A (p.Ser799Asn)
c.2528G>A (p.Ser843Asn)
n.329+3481C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6g.33443125G>CCA363625950SYNGAP1,SYNGAP1-AS1c.2315G>C (p.Ser772Thr)
c.2573G>C (p.Ser858Thr)
c.2531G>C (p.Ser844Thr)
c.2396G>C (p.Ser799Thr)
c.2528G>C (p.Ser843Thr)
n.329+3481C>G
6g.33443125G=CA1620014505SYNGAP1,SYNGAP1-AS1c.2315G= (p.Ser772=)
c.2573G= (p.Ser858=)
c.2531G= (p.Ser844=)
c.2396G= (p.Ser799=)
c.2528G= (p.Ser843=)
n.329+3481C=
6g.33443125G>TCA363625953SYNGAP1,SYNGAP1-AS1c.2315G>T (p.Ser772Ile)
c.2573G>T (p.Ser858Ile)
c.2531G>T (p.Ser844Ile)
c.2396G>T (p.Ser799Ile)
c.2528G>T (p.Ser843Ile)
n.329+3481C>A
6g.33443126C>ACA363625955SYNGAP1,SYNGAP1-AS1c.2316C>A (p.Ser772Arg)
c.2574C>A (p.Ser858Arg)
c.2532C>A (p.Ser844Arg)
c.2397C>A (p.Ser799Arg)
c.2529C>A (p.Ser843Arg)
n.329+3480G>T
6g.33443126C=CA1620014506SYNGAP1,SYNGAP1-AS1c.2316C= (p.Ser772=)
c.2574C= (p.Ser858=)
c.2532C= (p.Ser844=)
c.2397C= (p.Ser799=)
c.2529C= (p.Ser843=)
n.329+3480G=
6g.33443126C>GCA363625956SYNGAP1,SYNGAP1-AS1c.2316C>G (p.Ser772Arg)
c.2574C>G (p.Ser858Arg)
c.2532C>G (p.Ser844Arg)
c.2397C>G (p.Ser799Arg)
c.2529C>G (p.Ser843Arg)
n.329+3480G>C
6g.33443126C>TCA450103730SYNGAP1,SYNGAP1-AS1c.2316C>T (p.Ser772=)
c.2574C>T (p.Ser858=)
c.2532C>T (p.Ser844=)
c.2397C>T (p.Ser799=)
c.2529C>T (p.Ser843=)
n.329+3480G>A
 dbSNP
6g.33443127A>CCA363625964SYNGAP1,SYNGAP1-AS1c.2317A>C (p.Ser773Arg)
c.2575A>C (p.Ser859Arg)
c.2533A>C (p.Ser845Arg)
c.2398A>C (p.Ser800Arg)
c.2530A>C (p.Ser844Arg)
n.329+3479T>G
6g.33443127A>GCA363625961SYNGAP1,SYNGAP1-AS1c.2317A>G (p.Ser773Gly)
c.2575A>G (p.Ser859Gly)
c.2533A>G (p.Ser845Gly)
c.2398A>G (p.Ser800Gly)
c.2530A>G (p.Ser844Gly)
n.329+3479T>C
6g.33443127A>TCA363625962SYNGAP1,SYNGAP1-AS1c.2317A>T (p.Ser773Cys)
c.2575A>T (p.Ser859Cys)
c.2533A>T (p.Ser845Cys)
c.2398A>T (p.Ser800Cys)
c.2530A>T (p.Ser844Cys)
n.329+3479T>A
6g.33443127_33443129delCA2678275663SYNGAP1,SYNGAP1-AS1c.2317_2319del (p.Ser773del)
c.2575_2577del (p.Ser859del)
c.2533_2535del (p.Ser845del)
c.2398_2400del (p.Ser800del)
c.2530_2532del (p.Ser844del)
n.329+3477_329+3479del
 gnomAD v4
6g.33443127_33443129delinsAGTCA1620014507SYNGAP1,SYNGAP1-AS1c.2317_2319delinsAGT (p.Ser773=)
c.2575_2577delinsAGT (p.Ser859=)
c.2533_2535delinsAGT (p.Ser845=)
c.2398_2400delinsAGT (p.Ser800=)
c.2530_2532delinsAGT (p.Ser844=)
n.329+3477_329+3479delinsACT
6g.33443128G>ACA363625966SYNGAP1,SYNGAP1-AS1c.2318G>A (p.Ser773Asn)
c.2576G>A (p.Ser859Asn)
c.2534G>A (p.Ser845Asn)
c.2399G>A (p.Ser800Asn)
c.2531G>A (p.Ser844Asn)
n.329+3478C>T
6g.33443128G>CCA363625968SYNGAP1,SYNGAP1-AS1c.2318G>C (p.Ser773Thr)
c.2576G>C (p.Ser859Thr)
c.2534G>C (p.Ser845Thr)
c.2399G>C (p.Ser800Thr)
c.2531G>C (p.Ser844Thr)
n.329+3478C>G
6g.33443128G>TCA363625970SYNGAP1,SYNGAP1-AS1c.2318G>T (p.Ser773Ile)
c.2576G>T (p.Ser859Ile)
c.2534G>T (p.Ser845Ile)
c.2399G>T (p.Ser800Ile)
c.2531G>T (p.Ser844Ile)
n.329+3478C>A
6g.33443130_33443131delCA10584020SYNGAP1,SYNGAP1-AS1c.2320_2321del (p.Val774PhefsTer?)
c.2578_2579del (p.Val860PhefsTer?)
c.2536_2537del (p.Val846PhefsTer?)
c.2401_2402del (p.Val801PhefsTer?)
c.2533_2534del (p.Val845PhefsTer?)
n.329+3477_329+3478del
 ClinVar dbSNP
6g.33443129T>ACA363625974SYNGAP1,SYNGAP1-AS1c.2319T>A (p.Ser773Arg)
c.2577T>A (p.Ser859Arg)
c.2535T>A (p.Ser845Arg)
c.2400T>A (p.Ser800Arg)
c.2532T>A (p.Ser844Arg)
n.329+3477A>T
6g.33443129T>CCA137072837SYNGAP1,SYNGAP1-AS1c.2319T>C (p.Ser773=)
c.2577T>C (p.Ser859=)
c.2535T>C (p.Ser845=)
c.2400T>C (p.Ser800=)
c.2532T>C (p.Ser844=)
n.329+3477A>G
 dbSNP
6g.33443129T>GCA363625975SYNGAP1,SYNGAP1-AS1c.2319T>G (p.Ser773Arg)
c.2577T>G (p.Ser859Arg)
c.2535T>G (p.Ser845Arg)
c.2400T>G (p.Ser800Arg)
c.2532T>G (p.Ser844Arg)
n.329+3477A>C
6g.33443129T=CA1620014508SYNGAP1,SYNGAP1-AS1c.2319T= (p.Ser773=)
c.2577T= (p.Ser859=)
c.2535T= (p.Ser845=)
c.2400T= (p.Ser800=)
c.2532T= (p.Ser844=)
n.329+3477A=
6g.33443130G>ACA16611962SYNGAP1,SYNGAP1-AS1c.2320G>A (p.Val774Ile)
c.2578G>A (p.Val860Ile)
c.2536G>A (p.Val846Ile)
c.2401G>A (p.Val801Ile)
c.2533G>A (p.Val845Ile)
n.329+3476C>T
 ClinVar dbSNP gnomAD v4
6g.33443130G>CCA363625981SYNGAP1,SYNGAP1-AS1c.2320G>C (p.Val774Leu)
c.2578G>C (p.Val860Leu)
c.2536G>C (p.Val846Leu)
c.2401G>C (p.Val801Leu)
c.2533G>C (p.Val845Leu)
n.329+3476C>G
 COSMIC COSMIC
6g.33443130G=CA1620014509SYNGAP1,SYNGAP1-AS1c.2320G= (p.Val774=)
c.2578G= (p.Val860=)
c.2536G= (p.Val846=)
c.2401G= (p.Val801=)
c.2533G= (p.Val845=)
n.329+3476C=
6g.33443130G>TCA363625979SYNGAP1,SYNGAP1-AS1c.2320G>T (p.Val774Phe)
c.2578G>T (p.Val860Phe)
c.2536G>T (p.Val846Phe)
c.2401G>T (p.Val801Phe)
c.2533G>T (p.Val845Phe)
n.329+3476C>A
6g.33443131T>ACA363625984SYNGAP1,SYNGAP1-AS1c.2321T>A (p.Val774Asp)
c.2579T>A (p.Val860Asp)
c.2537T>A (p.Val846Asp)
c.2402T>A (p.Val801Asp)
c.2534T>A (p.Val845Asp)
n.329+3475A>T
6g.33443131T>CCA363625986SYNGAP1,SYNGAP1-AS1c.2321T>C (p.Val774Ala)
c.2579T>C (p.Val860Ala)
c.2537T>C (p.Val846Ala)
c.2402T>C (p.Val801Ala)
c.2534T>C (p.Val845Ala)
n.329+3475A>G
6g.33443131T>GCA363625989SYNGAP1,SYNGAP1-AS1c.2321T>G (p.Val774Gly)
c.2579T>G (p.Val860Gly)
c.2537T>G (p.Val846Gly)
c.2402T>G (p.Val801Gly)
c.2534T>G (p.Val845Gly)
n.329+3475A>C
6g.33443132T>ACA450103732SYNGAP1,SYNGAP1-AS1c.2322T>A (p.Val774=)
c.2580T>A (p.Val860=)
c.2538T>A (p.Val846=)
c.2403T>A (p.Val801=)
c.2535T>A (p.Val845=)
n.329+3474A>T
6g.33443132T>CCA450103733SYNGAP1,SYNGAP1-AS1c.2322T>C (p.Val774=)
c.2580T>C (p.Val860=)
c.2538T>C (p.Val846=)
c.2403T>C (p.Val801=)
c.2535T>C (p.Val845=)
n.329+3474A>G
6g.33443132T>GCA450103734SYNGAP1,SYNGAP1-AS1c.2322T>G (p.Val774=)
c.2580T>G (p.Val860=)
c.2538T>G (p.Val846=)
c.2403T>G (p.Val801=)
c.2535T>G (p.Val845=)
n.329+3474A>C
6g.33443133T>ACA363625991SYNGAP1,SYNGAP1-AS1c.2323T>A (p.Ser775Thr)
c.2581T>A (p.Ser861Thr)
c.2539T>A (p.Ser847Thr)
c.2404T>A (p.Ser802Thr)
c.2536T>A (p.Ser846Thr)
n.329+3473A>T
6g.33443133T>CCA363625993SYNGAP1,SYNGAP1-AS1c.2323T>C (p.Ser775Pro)
c.2581T>C (p.Ser861Pro)
c.2539T>C (p.Ser847Pro)
c.2404T>C (p.Ser802Pro)
c.2536T>C (p.Ser846Pro)
n.329+3473A>G
6g.33443133T>GCA363625994SYNGAP1,SYNGAP1-AS1c.2323T>G (p.Ser775Ala)
c.2581T>G (p.Ser861Ala)
c.2539T>G (p.Ser847Ala)
c.2404T>G (p.Ser802Ala)
c.2536T>G (p.Ser846Ala)
n.329+3473A>C
6g.33443134C>ACA363625997SYNGAP1,SYNGAP1-AS1c.2324C>A (p.Ser775Ter)
c.2582C>A (p.Ser861Ter)
c.2540C>A (p.Ser847Ter)
c.2405C>A (p.Ser802Ter)
c.2537C>A (p.Ser846Ter)
n.329+3472G>T
 dbSNP
6g.33443134C=CA1620014510SYNGAP1,SYNGAP1-AS1c.2324C= (p.Ser775=)
c.2582C= (p.Ser861=)
c.2540C= (p.Ser847=)
c.2405C= (p.Ser802=)
c.2537C= (p.Ser846=)
n.329+3472G=
6g.33443134C>GCA363626001SYNGAP1,SYNGAP1-AS1c.2324C>G (p.Ser775Trp)
c.2582C>G (p.Ser861Trp)
c.2540C>G (p.Ser847Trp)
c.2405C>G (p.Ser802Trp)
c.2537C>G (p.Ser846Trp)
n.329+3472G>C
6g.33443134C>TCA3758921SYNGAP1,SYNGAP1-AS1c.2324C>T (p.Ser775Leu)
c.2582C>T (p.Ser861Leu)
c.2540C>T (p.Ser847Leu)
c.2405C>T (p.Ser802Leu)
c.2537C>T (p.Ser846Leu)
n.329+3472G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6g.33443135G>ACA207273SYNGAP1,SYNGAP1-AS1c.2325G>A (p.Ser775=)
c.2583G>A (p.Ser861=)
c.2541G>A (p.Ser847=)
c.2406G>A (p.Ser802=)
c.2538G>A (p.Ser846=)
n.329+3471C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
6g.33443135G>CCA450103735SYNGAP1,SYNGAP1-AS1c.2325G>C (p.Ser775=)
c.2583G>C (p.Ser861=)
c.2541G>C (p.Ser847=)
c.2406G>C (p.Ser802=)
c.2538G>C (p.Ser846=)
n.329+3471C>G
 ClinVar gnomAD v4
6g.33443135G=CA1620014511SYNGAP1,SYNGAP1-AS1c.2325G= (p.Ser775=)
c.2583G= (p.Ser861=)
c.2541G= (p.Ser847=)
c.2406G= (p.Ser802=)
c.2538G= (p.Ser846=)
n.329+3471C=
6g.33443135G>TCA450103736SYNGAP1,SYNGAP1-AS1c.2325G>T (p.Ser775=)
c.2583G>T (p.Ser861=)
c.2541G>T (p.Ser847=)
c.2406G>T (p.Ser802=)
c.2538G>T (p.Ser846=)
n.329+3471C>A
6g.33443136A>CCA363626006SYNGAP1,SYNGAP1-AS1c.2326A>C (p.Asn776His)
c.2584A>C (p.Asn862His)
c.2542A>C (p.Asn848His)
c.2407A>C (p.Asn803His)
c.2539A>C (p.Asn847His)
n.329+3470T>G
6g.33443136A>GCA363626008SYNGAP1,SYNGAP1-AS1c.2326A>G (p.Asn776Asp)
c.2584A>G (p.Asn862Asp)
c.2542A>G (p.Asn848Asp)
c.2407A>G (p.Asn803Asp)
c.2539A>G (p.Asn847Asp)
n.329+3470T>C
6g.33443136A>TCA363626010SYNGAP1,SYNGAP1-AS1c.2326A>T (p.Asn776Tyr)
c.2584A>T (p.Asn862Tyr)
c.2542A>T (p.Asn848Tyr)
c.2407A>T (p.Asn803Tyr)
c.2539A>T (p.Asn847Tyr)
n.329+3470T>A
6g.33443137A>CCA363626012SYNGAP1,SYNGAP1-AS1c.2327A>C (p.Asn776Thr)
c.2585A>C (p.Asn862Thr)
c.2543A>C (p.Asn848Thr)
c.2408A>C (p.Asn803Thr)
c.2540A>C (p.Asn847Thr)
n.329+3469T>G
6g.33443137A>GCA363626017SYNGAP1,SYNGAP1-AS1c.2327A>G (p.Asn776Ser)
c.2585A>G (p.Asn862Ser)
c.2543A>G (p.Asn848Ser)
c.2408A>G (p.Asn803Ser)
c.2540A>G (p.Asn847Ser)
n.329+3469T>C
6g.33443137A>TCA363626015SYNGAP1,SYNGAP1-AS1c.2327A>T (p.Asn776Ile)
c.2585A>T (p.Asn862Ile)
c.2543A>T (p.Asn848Ile)
c.2408A>T (p.Asn803Ile)
c.2540A>T (p.Asn847Ile)
n.329+3469T>A
6g.33443138C>ACA363626019SYNGAP1,SYNGAP1-AS1c.2328C>A (p.Asn776Lys)
c.2586C>A (p.Asn862Lys)
c.2544C>A (p.Asn848Lys)
c.2409C>A (p.Asn803Lys)
c.2541C>A (p.Asn847Lys)
n.329+3468G>T
6g.33443138C>GCA363626021SYNGAP1,SYNGAP1-AS1c.2328C>G (p.Asn776Lys)
c.2586C>G (p.Asn862Lys)
c.2544C>G (p.Asn848Lys)
c.2409C>G (p.Asn803Lys)
c.2541C>G (p.Asn847Lys)
n.329+3468G>C
6g.33443138C>TCA450103737SYNGAP1,SYNGAP1-AS1c.2328C>T (p.Asn776=)
c.2586C>T (p.Asn862=)
c.2544C>T (p.Asn848=)
c.2409C>T (p.Asn803=)
c.2541C>T (p.Asn847=)
n.329+3468G>A
6g.33443139C>ACA363626024SYNGAP1,SYNGAP1-AS1c.2329C>A (p.Leu777Met)
c.2587C>A (p.Leu863Met)
c.2545C>A (p.Leu849Met)
c.2410C>A (p.Leu804Met)
c.2542C>A (p.Leu848Met)
n.329+3467G>T
6g.33443139C>GCA363626026SYNGAP1,SYNGAP1-AS1c.2329C>G (p.Leu777Val)
c.2587C>G (p.Leu863Val)
c.2545C>G (p.Leu849Val)
c.2410C>G (p.Leu804Val)
c.2542C>G (p.Leu848Val)
n.329+3467G>C
6g.33443139C>TCA450103738SYNGAP1,SYNGAP1-AS1c.2329C>T (p.Leu777=)
c.2587C>T (p.Leu863=)
c.2545C>T (p.Leu849=)
c.2410C>T (p.Leu804=)
c.2542C>T (p.Leu848=)
n.329+3467G>A
6g.33443140T>ACA363626031SYNGAP1,SYNGAP1-AS1c.2330T>A (p.Leu777Gln)
c.2588T>A (p.Leu863Gln)
c.2546T>A (p.Leu849Gln)
c.2411T>A (p.Leu804Gln)
c.2543T>A (p.Leu848Gln)
n.329+3466A>T
6g.33443140T>CCA363626032SYNGAP1,SYNGAP1-AS1c.2330T>C (p.Leu777Pro)
c.2588T>C (p.Leu863Pro)
c.2546T>C (p.Leu849Pro)
c.2411T>C (p.Leu804Pro)
c.2543T>C (p.Leu848Pro)
n.329+3466A>G
6g.33443140T>GCA363626033SYNGAP1,SYNGAP1-AS1c.2330T>G (p.Leu777Arg)
c.2588T>G (p.Leu863Arg)
c.2546T>G (p.Leu849Arg)
c.2411T>G (p.Leu804Arg)
c.2543T>G (p.Leu848Arg)
n.329+3466A>C
6g.33443140_33443143delinsTGGCCA1620014512SYNGAP1,SYNGAP1-AS1c.2330_2333delinsTGGC (p.Leu777=)
c.2588_2591delinsTGGC (p.Leu863=)
c.2546_2549delinsTGGC (p.Leu849=)
c.2411_2414delinsTGGC (p.Leu804=)
c.2543_2546delinsTGGC (p.Leu848=)
n.329+3463_329+3466delinsGCCA
6g.33443141G>ACA450103739SYNGAP1,SYNGAP1-AS1c.2331G>A (p.Leu777=)
c.2589G>A (p.Leu863=)
c.2547G>A (p.Leu849=)
c.2412G>A (p.Leu804=)
c.2544G>A (p.Leu848=)
n.329+3465C>T
6g.33443141G>CCA450103740SYNGAP1,SYNGAP1-AS1c.2331G>C (p.Leu777=)
c.2589G>C (p.Leu863=)
c.2547G>C (p.Leu849=)
c.2412G>C (p.Leu804=)
c.2544G>C (p.Leu848=)
n.329+3465C>G
6g.33443141G>TCA450103741SYNGAP1,SYNGAP1-AS1c.2331G>T (p.Leu777=)
c.2589G>T (p.Leu863=)
c.2547G>T (p.Leu849=)
c.2412G>T (p.Leu804=)
c.2544G>T (p.Leu848=)
n.329+3465C>A
6g.33443144_33443146delCA3758922SYNGAP1,SYNGAP1-AS1c.2334_2336del (p.Ala779del)
c.2592_2594del (p.Ala865del)
c.2550_2552del (p.Ala851del)
c.2415_2417del (p.Ala806del)
c.2547_2549del (p.Ala850del)
n.329+3463_329+3465del
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.33443142G>ACA363626037SYNGAP1,SYNGAP1-AS1c.2332G>A (p.Ala778Thr)
c.2590G>A (p.Ala864Thr)
c.2548G>A (p.Ala850Thr)
c.2413G>A (p.Ala805Thr)
c.2545G>A (p.Ala849Thr)
n.329+3464C>T
 dbSNP
6g.33443142G>CCA363626039SYNGAP1,SYNGAP1-AS1c.2332G>C (p.Ala778Pro)
c.2590G>C (p.Ala864Pro)
c.2548G>C (p.Ala850Pro)
c.2413G>C (p.Ala805Pro)
c.2545G>C (p.Ala849Pro)
n.329+3464C>G
6g.33443142G=CA1620014513SYNGAP1,SYNGAP1-AS1c.2332G= (p.Ala778=)
c.2590G= (p.Ala864=)
c.2548G= (p.Ala850=)
c.2413G= (p.Ala805=)
c.2545G= (p.Ala849=)
n.329+3464C=
6g.33443142G>TCA363626042SYNGAP1,SYNGAP1-AS1c.2332G>T (p.Ala778Ser)
c.2590G>T (p.Ala864Ser)
c.2548G>T (p.Ala850Ser)
c.2413G>T (p.Ala805Ser)
c.2545G>T (p.Ala849Ser)
n.329+3464C>A
6g.33443143_33443144delCA2580074376SYNGAP1,SYNGAP1-AS1c.2333_2334del (p.Ala778GlyfsTer?)
c.2591_2592del (p.Ala864GlyfsTer?)
c.2549_2550del (p.Ala850GlyfsTer?)
c.2414_2415del (p.Ala805GlyfsTer?)
c.2546_2547del (p.Ala849GlyfsTer?)
n.329+3463_329+3464del
 ClinVar
6g.33443143C>ACA363626045SYNGAP1,SYNGAP1-AS1c.2333C>A (p.Ala778Glu)
c.2591C>A (p.Ala864Glu)
c.2549C>A (p.Ala850Glu)
c.2414C>A (p.Ala805Glu)
c.2546C>A (p.Ala849Glu)
n.329+3463G>T
6g.33443143C=CA1620014514SYNGAP1,SYNGAP1-AS1c.2333C= (p.Ala778=)
c.2591C= (p.Ala864=)
c.2549C= (p.Ala850=)
c.2414C= (p.Ala805=)
c.2546C= (p.Ala849=)
n.329+3463G=
6g.33443143C>GCA363626047SYNGAP1,SYNGAP1-AS1c.2333C>G (p.Ala778Gly)
c.2591C>G (p.Ala864Gly)
c.2549C>G (p.Ala850Gly)
c.2414C>G (p.Ala805Gly)
c.2546C>G (p.Ala849Gly)
n.329+3463G>C
6g.33443143C>TCA363626050SYNGAP1,SYNGAP1-AS1c.2333C>T (p.Ala778Val)
c.2591C>T (p.Ala864Val)
c.2549C>T (p.Ala850Val)
c.2414C>T (p.Ala805Val)
c.2546C>T (p.Ala849Val)
n.329+3463G>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
6g.33443144G>ACA137072870SYNGAP1,SYNGAP1-AS1c.2334G>A (p.Ala778=)
c.2592G>A (p.Ala864=)
c.2550G>A (p.Ala850=)
c.2415G>A (p.Ala805=)
c.2547G>A (p.Ala849=)
n.329+3462C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
6g.33443144G>CCA450103742SYNGAP1,SYNGAP1-AS1c.2334G>C (p.Ala778=)
c.2592G>C (p.Ala864=)
c.2550G>C (p.Ala850=)
c.2415G>C (p.Ala805=)
c.2547G>C (p.Ala849=)
n.329+3462C>G
6g.33443144G=CA1620014515SYNGAP1,SYNGAP1-AS1c.2334G= (p.Ala778=)
c.2592G= (p.Ala864=)
c.2550G= (p.Ala850=)
c.2415G= (p.Ala805=)
c.2547G= (p.Ala849=)
n.329+3462C=
6g.33443144G>TCA450103743SYNGAP1,SYNGAP1-AS1c.2334G>T (p.Ala778=)
c.2592G>T (p.Ala864=)
c.2550G>T (p.Ala850=)
c.2415G>T (p.Ala805=)
c.2547G>T (p.Ala849=)
n.329+3462C>A
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.33443145G>ACA363626052SYNGAP1,SYNGAP1-AS1c.2335G>A (p.Ala779Thr)
c.2593G>A (p.Ala865Thr)
c.2551G>A (p.Ala851Thr)
c.2416G>A (p.Ala806Thr)
c.2548G>A (p.Ala850Thr)
n.329+3461C>T
6g.33443145G>CCA363626056SYNGAP1,SYNGAP1-AS1c.2335G>C (p.Ala779Pro)
c.2593G>C (p.Ala865Pro)
c.2551G>C (p.Ala851Pro)
c.2416G>C (p.Ala806Pro)
c.2548G>C (p.Ala850Pro)
n.329+3461C>G
6g.33443145G>TCA363626054SYNGAP1,SYNGAP1-AS1c.2335G>T (p.Ala779Ser)
c.2593G>T (p.Ala865Ser)
c.2551G>T (p.Ala851Ser)
c.2416G>T (p.Ala806Ser)
c.2548G>T (p.Ala850Ser)
n.329+3461C>A
6g.33443146C>ACA363626059SYNGAP1,SYNGAP1-AS1c.2336C>A (p.Ala779Asp)
c.2594C>A (p.Ala865Asp)
c.2552C>A (p.Ala851Asp)
c.2417C>A (p.Ala806Asp)
c.2549C>A (p.Ala850Asp)
n.329+3460G>T
6g.33443146C>GCA363626061SYNGAP1,SYNGAP1-AS1c.2336C>G (p.Ala779Gly)
c.2594C>G (p.Ala865Gly)
c.2552C>G (p.Ala851Gly)
c.2417C>G (p.Ala806Gly)
c.2549C>G (p.Ala850Gly)
n.329+3460G>C
 dbSNP
6g.33443146C>TCA363626062SYNGAP1,SYNGAP1-AS1c.2336C>T (p.Ala779Val)
c.2594C>T (p.Ala865Val)
c.2552C>T (p.Ala851Val)
c.2417C>T (p.Ala806Val)
c.2549C>T (p.Ala850Val)
n.329+3460G>A
6g.33443147C>ACA450103744SYNGAP1,SYNGAP1-AS1c.2337C>A (p.Ala779=)
c.2595C>A (p.Ala865=)
c.2553C>A (p.Ala851=)
c.2418C>A (p.Ala806=)
c.2550C>A (p.Ala850=)
n.329+3459G>T
6g.33443147C=CA1620014516SYNGAP1,SYNGAP1-AS1c.2337C= (p.Ala779=)
c.2595C= (p.Ala865=)
c.2553C= (p.Ala851=)
c.2418C= (p.Ala806=)
c.2550C= (p.Ala850=)
n.329+3459G=
6g.33443147C>GCA450103745SYNGAP1,SYNGAP1-AS1c.2337C>G (p.Ala779=)
c.2595C>G (p.Ala865=)
c.2553C>G (p.Ala851=)
c.2418C>G (p.Ala806=)
c.2550C>G (p.Ala850=)
n.329+3459G>C
6g.33443147C>TCA3758923SYNGAP1,SYNGAP1-AS1c.2337C>T (p.Ala779=)
c.2595C>T (p.Ala865=)
c.2553C>T (p.Ala851=)
c.2418C>T (p.Ala806=)
c.2550C>T (p.Ala850=)
n.329+3459G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.33443148G>ACA3758925SYNGAP1,SYNGAP1-AS1c.2338G>A (p.Val780Ile)
c.2596G>A (p.Val866Ile)
c.2554G>A (p.Val852Ile)
c.2419G>A (p.Val807Ile)
c.2551G>A (p.Val851Ile)
n.329+3458C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6g.33443148G>CCA363626068SYNGAP1,SYNGAP1-AS1c.2338G>C (p.Val780Leu)
c.2596G>C (p.Val866Leu)
c.2554G>C (p.Val852Leu)
c.2419G>C (p.Val807Leu)
c.2551G>C (p.Val851Leu)
n.329+3458C>G
6g.33443148G=CA1620014517SYNGAP1,SYNGAP1-AS1c.2338G= (p.Val780=)
c.2596G= (p.Val866=)
c.2554G= (p.Val852=)
c.2419G= (p.Val807=)
c.2551G= (p.Val851=)
n.329+3458C=
6g.33443148G>TCA3758924SYNGAP1,SYNGAP1-AS1c.2338G>T (p.Val780Leu)
c.2596G>T (p.Val866Leu)
c.2554G>T (p.Val852Leu)
c.2419G>T (p.Val807Leu)
c.2551G>T (p.Val851Leu)
n.329+3458C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.33443149T>ACA363626073SYNGAP1,SYNGAP1-AS1c.2339T>A (p.Val780Glu)
c.2597T>A (p.Val866Glu)
c.2555T>A (p.Val852Glu)
c.2420T>A (p.Val807Glu)
c.2552T>A (p.Val851Glu)
n.329+3457A>T
6g.33443149T>CCA363626074SYNGAP1,SYNGAP1-AS1c.2339T>C (p.Val780Ala)
c.2597T>C (p.Val866Ala)
c.2555T>C (p.Val852Ala)
c.2420T>C (p.Val807Ala)
c.2552T>C (p.Val851Ala)
n.329+3457A>G
 gnomAD v4
6g.33443149T>GCA363626075SYNGAP1,SYNGAP1-AS1c.2339T>G (p.Val780Gly)
c.2597T>G (p.Val866Gly)
c.2555T>G (p.Val852Gly)
c.2420T>G (p.Val807Gly)
c.2552T>G (p.Val851Gly)
n.329+3457A>C
6g.33443150A>CCA450103746SYNGAP1,SYNGAP1-AS1c.2340A>C (p.Val780=)
c.2598A>C (p.Val866=)
c.2556A>C (p.Val852=)
c.2421A>C (p.Val807=)
c.2553A>C (p.Val851=)
n.329+3456T>G
6g.33443150A>GCA450103747SYNGAP1,SYNGAP1-AS1c.2340A>G (p.Val780=)
c.2598A>G (p.Val866=)
c.2556A>G (p.Val852=)
c.2421A>G (p.Val807=)
c.2553A>G (p.Val851=)
n.329+3456T>C
6g.33443150A>TCA450103748SYNGAP1,SYNGAP1-AS1c.2340A>T (p.Val780=)
c.2598A>T (p.Val866=)
c.2556A>T (p.Val852=)
c.2421A>T (p.Val807=)
c.2553A>T (p.Val851=)
n.329+3456T>A
6g.33443150_33443151delinsAGCA1620014518SYNGAP1,SYNGAP1-AS1c.2340_2341delinsAG (p.Val780=)
c.2598_2599delinsAG (p.Val866=)
c.2556_2557delinsAG (p.Val852=)
c.2421_2422delinsAG (p.Val807=)
c.2553_2554delinsAG (p.Val851=)
n.329+3455_329+3456delinsCT
6g.33443151G>ACA363626083SYNGAP1,SYNGAP1-AS1c.2341G>A (p.Gly781Arg)
c.2599G>A (p.Gly867Arg)
c.2557G>A (p.Gly853Arg)
c.2422G>A (p.Gly808Arg)
c.2554G>A (p.Gly852Arg)
n.329+3455C>T
6g.33443151G>CCA363626082SYNGAP1,SYNGAP1-AS1c.2341G>C (p.Gly781Arg)
c.2599G>C (p.Gly867Arg)
c.2557G>C (p.Gly853Arg)
c.2422G>C (p.Gly808Arg)
c.2554G>C (p.Gly852Arg)
n.329+3455C>G
 gnomAD v4
6g.33443151G>TCA363626085SYNGAP1,SYNGAP1-AS1c.2341G>T (p.Gly781Trp)
c.2599G>T (p.Gly867Trp)
c.2557G>T (p.Gly853Trp)
c.2422G>T (p.Gly808Trp)
c.2554G>T (p.Gly852Trp)
n.329+3455C>A
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.33443152G>ACA3758926SYNGAP1,SYNGAP1-AS1c.2342G>A (p.Gly781Glu)
c.2600G>A (p.Gly867Glu)
c.2558G>A (p.Gly853Glu)
c.2423G>A (p.Gly808Glu)
c.2555G>A (p.Gly852Glu)
n.329+3454C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.33443152G>CCA363626090SYNGAP1,SYNGAP1-AS1c.2342G>C (p.Gly781Ala)
c.2600G>C (p.Gly867Ala)
c.2558G>C (p.Gly853Ala)
c.2423G>C (p.Gly808Ala)
c.2555G>C (p.Gly852Ala)
n.329+3454C>G
6g.33443152G=CA1620014519SYNGAP1,SYNGAP1-AS1c.2342G= (p.Gly781=)
c.2600G= (p.Gly867=)
c.2558G= (p.Gly853=)
c.2423G= (p.Gly808=)
c.2555G= (p.Gly852=)
n.329+3454C=
6g.33443152G>TCA363626091SYNGAP1,SYNGAP1-AS1c.2342G>T (p.Gly781Val)
c.2600G>T (p.Gly867Val)
c.2558G>T (p.Gly853Val)
c.2423G>T (p.Gly808Val)
c.2555G>T (p.Gly852Val)
n.329+3454C>A
6g.33443153G>ACA450103751SYNGAP1,SYNGAP1-AS1c.2343G>A (p.Gly781=)
c.2601G>A (p.Gly867=)
c.2559G>A (p.Gly853=)
c.2424G>A (p.Gly808=)
c.2556G>A (p.Gly852=)
n.329+3453C>T
 gnomAD v4
6g.33443153G>CCA450103750SYNGAP1,SYNGAP1-AS1c.2343G>C (p.Gly781=)
c.2601G>C (p.Gly867=)
c.2559G>C (p.Gly853=)
c.2424G>C (p.Gly808=)
c.2556G>C (p.Gly852=)
n.329+3453C>G
6g.33443153G>TCA450103749SYNGAP1,SYNGAP1-AS1c.2343G>T (p.Gly781=)
c.2601G>T (p.Gly867=)
c.2559G>T (p.Gly853=)
c.2424G>T (p.Gly808=)
c.2556G>T (p.Gly852=)
n.329+3453C>A
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

Number of alleles fetched