Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.33443046C>ACA363625481SYNGAP1,SYNGAP1-AS1c.2236C>A (p.Gln746Lys)
c.2494C>A (p.Gln832Lys)
c.2452C>A (p.Gln818Lys)
c.2317C>A (p.Gln773Lys)
c.2449C>A (p.Gln817Lys)
n.329+3560G>T
6g.33443046C=CA1620014484SYNGAP1,SYNGAP1-AS1c.2236C= (p.Gln746=)
c.2494C= (p.Gln832=)
c.2452C= (p.Gln818=)
c.2317C= (p.Gln773=)
c.2449C= (p.Gln817=)
n.329+3560G=
6g.33443046C>GCA363625484SYNGAP1,SYNGAP1-AS1c.2236C>G (p.Gln746Glu)
c.2494C>G (p.Gln832Glu)
c.2452C>G (p.Gln818Glu)
c.2317C>G (p.Gln773Glu)
c.2449C>G (p.Gln817Glu)
n.329+3560G>C
6g.33443046C>TCA363625486SYNGAP1,SYNGAP1-AS1c.2236C>T (p.Gln746Ter)
c.2494C>T (p.Gln832Ter)
c.2452C>T (p.Gln818Ter)
c.2317C>T (p.Gln773Ter)
c.2449C>T (p.Gln817Ter)
n.329+3560G>A
 ClinVar dbSNP
6g.33443047A>CCA363625488SYNGAP1,SYNGAP1-AS1c.2237A>C (p.Gln746Pro)
c.2495A>C (p.Gln832Pro)
c.2453A>C (p.Gln818Pro)
c.2318A>C (p.Gln773Pro)
c.2450A>C (p.Gln817Pro)
n.329+3559T>G
6g.33443047A>GCA363625491SYNGAP1,SYNGAP1-AS1c.2237A>G (p.Gln746Arg)
c.2495A>G (p.Gln832Arg)
c.2453A>G (p.Gln818Arg)
c.2318A>G (p.Gln773Arg)
c.2450A>G (p.Gln817Arg)
n.329+3559T>C
6g.33443047A>TCA363625492SYNGAP1,SYNGAP1-AS1c.2237A>T (p.Gln746Leu)
c.2495A>T (p.Gln832Leu)
c.2453A>T (p.Gln818Leu)
c.2318A>T (p.Gln773Leu)
c.2450A>T (p.Gln817Leu)
n.329+3559T>A
6g.33443048G>ACA450103683SYNGAP1,SYNGAP1-AS1c.2238G>A (p.Gln746=)
c.2496G>A (p.Gln832=)
c.2454G>A (p.Gln818=)
c.2319G>A (p.Gln773=)
c.2451G>A (p.Gln817=)
n.329+3558C>T
6g.33443048G>CCA363625495SYNGAP1,SYNGAP1-AS1c.2238G>C (p.Gln746His)
c.2496G>C (p.Gln832His)
c.2454G>C (p.Gln818His)
c.2319G>C (p.Gln773His)
c.2451G>C (p.Gln817His)
n.329+3558C>G
6g.33443048G>TCA363625498SYNGAP1,SYNGAP1-AS1c.2238G>T (p.Gln746His)
c.2496G>T (p.Gln832His)
c.2454G>T (p.Gln818His)
c.2319G>T (p.Gln773His)
c.2451G>T (p.Gln817His)
n.329+3558C>A
6g.33443049A=CA1620014485SYNGAP1,SYNGAP1-AS1c.2239A= (p.Lys747=)
c.2497A= (p.Lys833=)
c.2455A= (p.Lys819=)
c.2320A= (p.Lys774=)
c.2452A= (p.Lys818=)
n.329+3557T=
6g.33443049A>CCA363625500SYNGAP1,SYNGAP1-AS1c.2239A>C (p.Lys747Gln)
c.2497A>C (p.Lys833Gln)
c.2455A>C (p.Lys819Gln)
c.2320A>C (p.Lys774Gln)
c.2452A>C (p.Lys818Gln)
n.329+3557T>G
6g.33443049A>GCA363625501SYNGAP1,SYNGAP1-AS1c.2239A>G (p.Lys747Glu)
c.2497A>G (p.Lys833Glu)
c.2455A>G (p.Lys819Glu)
c.2320A>G (p.Lys774Glu)
c.2452A>G (p.Lys818Glu)
n.329+3557T>C
6g.33443049A>TCA363625504SYNGAP1,SYNGAP1-AS1c.2239A>T (p.Lys747Ter)
c.2497A>T (p.Lys833Ter)
c.2455A>T (p.Lys819Ter)
c.2320A>T (p.Lys774Ter)
c.2452A>T (p.Lys818Ter)
n.329+3557T>A
 dbSNP
6g.33443050A>CCA363625510SYNGAP1,SYNGAP1-AS1c.2240A>C (p.Lys747Thr)
c.2498A>C (p.Lys833Thr)
c.2456A>C (p.Lys819Thr)
c.2321A>C (p.Lys774Thr)
c.2453A>C (p.Lys818Thr)
n.329+3556T>G
6g.33443050A>GCA363625509SYNGAP1,SYNGAP1-AS1c.2240A>G (p.Lys747Arg)
c.2498A>G (p.Lys833Arg)
c.2456A>G (p.Lys819Arg)
c.2321A>G (p.Lys774Arg)
c.2453A>G (p.Lys818Arg)
n.329+3556T>C
6g.33443050A>TCA363625507SYNGAP1,SYNGAP1-AS1c.2240A>T (p.Lys747Met)
c.2498A>T (p.Lys833Met)
c.2456A>T (p.Lys819Met)
c.2321A>T (p.Lys774Met)
c.2453A>T (p.Lys818Met)
n.329+3556T>A
6g.33443051G>ACA450103684SYNGAP1,SYNGAP1-AS1c.2241G>A (p.Lys747=)
c.2499G>A (p.Lys833=)
c.2457G>A (p.Lys819=)
c.2322G>A (p.Lys774=)
c.2454G>A (p.Lys818=)
n.329+3555C>T
6g.33443051G>CCA363625513SYNGAP1,SYNGAP1-AS1c.2241G>C (p.Lys747Asn)
c.2499G>C (p.Lys833Asn)
c.2457G>C (p.Lys819Asn)
c.2322G>C (p.Lys774Asn)
c.2454G>C (p.Lys818Asn)
n.329+3555C>G
6g.33443051G>TCA363625515SYNGAP1,SYNGAP1-AS1c.2241G>T (p.Lys747Asn)
c.2499G>T (p.Lys833Asn)
c.2457G>T (p.Lys819Asn)
c.2322G>T (p.Lys774Asn)
c.2454G>T (p.Lys818Asn)
n.329+3555C>A
6g.33443052A>CCA363625517SYNGAP1,SYNGAP1-AS1c.2242A>C (p.Met748Leu)
c.2500A>C (p.Met834Leu)
c.2458A>C (p.Met820Leu)
c.2323A>C (p.Met775Leu)
c.2455A>C (p.Met819Leu)
n.329+3554T>G
6g.33443052A>GCA363625520SYNGAP1,SYNGAP1-AS1c.2242A>G (p.Met748Val)
c.2500A>G (p.Met834Val)
c.2458A>G (p.Met820Val)
c.2323A>G (p.Met775Val)
c.2455A>G (p.Met819Val)
n.329+3554T>C
6g.33443052A>TCA363625521SYNGAP1,SYNGAP1-AS1c.2242A>T (p.Met748Leu)
c.2500A>T (p.Met834Leu)
c.2458A>T (p.Met820Leu)
c.2323A>T (p.Met775Leu)
c.2455A>T (p.Met819Leu)
n.329+3554T>A
6g.33443053T>ACA363625524SYNGAP1,SYNGAP1-AS1c.2243T>A (p.Met748Lys)
c.2501T>A (p.Met834Lys)
c.2459T>A (p.Met820Lys)
c.2324T>A (p.Met775Lys)
c.2456T>A (p.Met819Lys)
n.329+3553A>T
6g.33443053T>CCA363625527SYNGAP1,SYNGAP1-AS1c.2243T>C (p.Met748Thr)
c.2501T>C (p.Met834Thr)
c.2459T>C (p.Met820Thr)
c.2324T>C (p.Met775Thr)
c.2456T>C (p.Met819Thr)
n.329+3553A>G
6g.33443053T>GCA363625528SYNGAP1,SYNGAP1-AS1c.2243T>G (p.Met748Arg)
c.2501T>G (p.Met834Arg)
c.2459T>G (p.Met820Arg)
c.2324T>G (p.Met775Arg)
c.2456T>G (p.Met819Arg)
n.329+3553A>C
6g.33443054G>ACA363625531SYNGAP1,SYNGAP1-AS1c.2244G>A (p.Met748Ile)
c.2502G>A (p.Met834Ile)
c.2460G>A (p.Met820Ile)
c.2325G>A (p.Met775Ile)
c.2457G>A (p.Met819Ile)
n.329+3552C>T
6g.33443054G>CCA363625532SYNGAP1,SYNGAP1-AS1c.2244G>C (p.Met748Ile)
c.2502G>C (p.Met834Ile)
c.2460G>C (p.Met820Ile)
c.2325G>C (p.Met775Ile)
c.2457G>C (p.Met819Ile)
n.329+3552C>G
 ClinVar
6g.33443054G>TCA363625535SYNGAP1,SYNGAP1-AS1c.2244G>T (p.Met748Ile)
c.2502G>T (p.Met834Ile)
c.2460G>T (p.Met820Ile)
c.2325G>T (p.Met775Ile)
c.2457G>T (p.Met819Ile)
n.329+3552C>A
6g.33443055C>ACA363625539SYNGAP1,SYNGAP1-AS1c.2245C>A (p.Leu749Met)
c.2503C>A (p.Leu835Met)
c.2461C>A (p.Leu821Met)
c.2326C>A (p.Leu776Met)
c.2458C>A (p.Leu820Met)
n.329+3551G>T
 ClinVar
6g.33443055C>GCA363625541SYNGAP1,SYNGAP1-AS1c.2245C>G (p.Leu749Val)
c.2503C>G (p.Leu835Val)
c.2461C>G (p.Leu821Val)
c.2326C>G (p.Leu776Val)
c.2458C>G (p.Leu820Val)
n.329+3551G>C
 gnomAD v4
6g.33443055C>TCA450103685SYNGAP1,SYNGAP1-AS1c.2245C>T (p.Leu749=)
c.2503C>T (p.Leu835=)
c.2461C>T (p.Leu821=)
c.2326C>T (p.Leu776=)
c.2458C>T (p.Leu820=)
n.329+3551G>A
6g.33443056T>ACA363625548SYNGAP1,SYNGAP1-AS1c.2246T>A (p.Leu749Gln)
c.2504T>A (p.Leu835Gln)
c.2462T>A (p.Leu821Gln)
c.2327T>A (p.Leu776Gln)
c.2459T>A (p.Leu820Gln)
n.329+3550A>T
6g.33443056T>CCA363625545SYNGAP1,SYNGAP1-AS1c.2246T>C (p.Leu749Pro)
c.2504T>C (p.Leu835Pro)
c.2462T>C (p.Leu821Pro)
c.2327T>C (p.Leu776Pro)
c.2459T>C (p.Leu820Pro)
n.329+3550A>G
6g.33443056T>GCA363625543SYNGAP1,SYNGAP1-AS1c.2246T>G (p.Leu749Arg)
c.2504T>G (p.Leu835Arg)
c.2462T>G (p.Leu821Arg)
c.2327T>G (p.Leu776Arg)
c.2459T>G (p.Leu820Arg)
n.329+3550A>C
6g.33443057G>ACA450103686SYNGAP1,SYNGAP1-AS1c.2247G>A (p.Leu749=)
c.2505G>A (p.Leu835=)
c.2463G>A (p.Leu821=)
c.2328G>A (p.Leu776=)
c.2460G>A (p.Leu820=)
n.329+3549C>T
6g.33443057G>CCA450103687SYNGAP1,SYNGAP1-AS1c.2247G>C (p.Leu749=)
c.2505G>C (p.Leu835=)
c.2463G>C (p.Leu821=)
c.2328G>C (p.Leu776=)
c.2460G>C (p.Leu820=)
n.329+3549C>G
6g.33443057G>TCA450103688SYNGAP1,SYNGAP1-AS1c.2247G>T (p.Leu749=)
c.2505G>T (p.Leu835=)
c.2463G>T (p.Leu821=)
c.2328G>T (p.Leu776=)
c.2460G>T (p.Leu820=)
n.329+3549C>A
6g.33443058A=CA1620014486SYNGAP1,SYNGAP1-AS1c.2248A= (p.Ser750=)
c.2506A= (p.Ser836=)
c.2464A= (p.Ser822=)
c.2329A= (p.Ser777=)
c.2461A= (p.Ser821=)
n.329+3548T=
6g.33443058A>CCA363625552SYNGAP1,SYNGAP1-AS1c.2248A>C (p.Ser750Arg)
c.2506A>C (p.Ser836Arg)
c.2464A>C (p.Ser822Arg)
c.2329A>C (p.Ser777Arg)
c.2461A>C (p.Ser821Arg)
n.329+3548T>G
6g.33443058A>GCA363625550SYNGAP1,SYNGAP1-AS1c.2248A>G (p.Ser750Gly)
c.2506A>G (p.Ser836Gly)
c.2464A>G (p.Ser822Gly)
c.2329A>G (p.Ser777Gly)
c.2461A>G (p.Ser821Gly)
n.329+3548T>C
 ClinVar dbSNP gnomAD v3 gnomAD v4
6g.33443058A>TCA363625551SYNGAP1,SYNGAP1-AS1c.2248A>T (p.Ser750Cys)
c.2506A>T (p.Ser836Cys)
c.2464A>T (p.Ser822Cys)
c.2329A>T (p.Ser777Cys)
c.2461A>T (p.Ser821Cys)
n.329+3548T>A
6g.33443059G>ACA363625556SYNGAP1,SYNGAP1-AS1c.2249G>A (p.Ser750Asn)
c.2507G>A (p.Ser836Asn)
c.2465G>A (p.Ser822Asn)
c.2330G>A (p.Ser777Asn)
c.2462G>A (p.Ser821Asn)
n.329+3547C>T
6g.33443059G>CCA363625558SYNGAP1,SYNGAP1-AS1c.2249G>C (p.Ser750Thr)
c.2507G>C (p.Ser836Thr)
c.2465G>C (p.Ser822Thr)
c.2330G>C (p.Ser777Thr)
c.2462G>C (p.Ser821Thr)
n.329+3547C>G
6g.33443059G>TCA363625560SYNGAP1,SYNGAP1-AS1c.2249G>T (p.Ser750Ile)
c.2507G>T (p.Ser836Ile)
c.2465G>T (p.Ser822Ile)
c.2330G>T (p.Ser777Ile)
c.2462G>T (p.Ser821Ile)
n.329+3547C>A
6g.33443060T>ACA363625561SYNGAP1,SYNGAP1-AS1c.2250T>A (p.Ser750Arg)
c.2508T>A (p.Ser836Arg)
c.2466T>A (p.Ser822Arg)
c.2331T>A (p.Ser777Arg)
c.2463T>A (p.Ser821Arg)
n.329+3546A>T
6g.33443060T>CCA450103689SYNGAP1,SYNGAP1-AS1c.2250T>C (p.Ser750=)
c.2508T>C (p.Ser836=)
c.2466T>C (p.Ser822=)
c.2331T>C (p.Ser777=)
c.2463T>C (p.Ser821=)
n.329+3546A>G
6g.33443060T>GCA363625562SYNGAP1,SYNGAP1-AS1c.2250T>G (p.Ser750Arg)
c.2508T>G (p.Ser836Arg)
c.2466T>G (p.Ser822Arg)
c.2331T>G (p.Ser777Arg)
c.2463T>G (p.Ser821Arg)
n.329+3546A>C
6g.33443061G>ACA363625564SYNGAP1,SYNGAP1-AS1c.2251G>A (p.Val751Ile)
c.2509G>A (p.Val837Ile)
c.2467G>A (p.Val823Ile)
c.2332G>A (p.Val778Ile)
c.2464G>A (p.Val822Ile)
n.329+3545C>T
 gnomAD v4
6g.33443061G>CCA363625566SYNGAP1,SYNGAP1-AS1c.2251G>C (p.Val751Leu)
c.2509G>C (p.Val837Leu)
c.2467G>C (p.Val823Leu)
c.2332G>C (p.Val778Leu)
c.2464G>C (p.Val822Leu)
n.329+3545C>G
6g.33443061G>TCA363625568SYNGAP1,SYNGAP1-AS1c.2251G>T (p.Val751Phe)
c.2509G>T (p.Val837Phe)
c.2467G>T (p.Val823Phe)
c.2332G>T (p.Val778Phe)
c.2464G>T (p.Val822Phe)
n.329+3545C>A
6g.33443062T>ACA363625571SYNGAP1,SYNGAP1-AS1c.2252T>A (p.Val751Asp)
c.2510T>A (p.Val837Asp)
c.2468T>A (p.Val823Asp)
c.2333T>A (p.Val778Asp)
c.2465T>A (p.Val822Asp)
n.329+3544A>T
6g.33443062T>CCA363625574SYNGAP1,SYNGAP1-AS1c.2252T>C (p.Val751Ala)
c.2510T>C (p.Val837Ala)
c.2468T>C (p.Val823Ala)
c.2333T>C (p.Val778Ala)
c.2465T>C (p.Val822Ala)
n.329+3544A>G
6g.33443062T>GCA363625576SYNGAP1,SYNGAP1-AS1c.2252T>G (p.Val751Gly)
c.2510T>G (p.Val837Gly)
c.2468T>G (p.Val823Gly)
c.2333T>G (p.Val778Gly)
c.2465T>G (p.Val822Gly)
n.329+3544A>C
 COSMIC COSMIC
6g.33443063C>ACA450103692SYNGAP1,SYNGAP1-AS1c.2253C>A (p.Val751=)
c.2511C>A (p.Val837=)
c.2469C>A (p.Val823=)
c.2334C>A (p.Val778=)
c.2466C>A (p.Val822=)
n.329+3543G>T
6g.33443063C=CA1620014487SYNGAP1,SYNGAP1-AS1c.2253C= (p.Val751=)
c.2511C= (p.Val837=)
c.2469C= (p.Val823=)
c.2334C= (p.Val778=)
c.2466C= (p.Val822=)
n.329+3543G=
6g.33443063C>GCA450103691SYNGAP1,SYNGAP1-AS1c.2253C>G (p.Val751=)
c.2511C>G (p.Val837=)
c.2469C>G (p.Val823=)
c.2334C>G (p.Val778=)
c.2466C>G (p.Val822=)
n.329+3543G>C
6g.33443063C>TCA450103690SYNGAP1,SYNGAP1-AS1c.2253C>T (p.Val751=)
c.2511C>T (p.Val837=)
c.2469C>T (p.Val823=)
c.2334C>T (p.Val778=)
c.2466C>T (p.Val822=)
n.329+3543G>A
 dbSNP
6g.33443064A>CCA363625582SYNGAP1,SYNGAP1-AS1c.2254A>C (p.Asn752His)
c.2512A>C (p.Asn838His)
c.2470A>C (p.Asn824His)
c.2335A>C (p.Asn779His)
c.2467A>C (p.Asn823His)
n.329+3542T>G
6g.33443064A>GCA363625578SYNGAP1,SYNGAP1-AS1c.2254A>G (p.Asn752Asp)
c.2512A>G (p.Asn838Asp)
c.2470A>G (p.Asn824Asp)
c.2335A>G (p.Asn779Asp)
c.2467A>G (p.Asn823Asp)
n.329+3542T>C
6g.33443064A>TCA363625579SYNGAP1,SYNGAP1-AS1c.2254A>T (p.Asn752Tyr)
c.2512A>T (p.Asn838Tyr)
c.2470A>T (p.Asn824Tyr)
c.2335A>T (p.Asn779Tyr)
c.2467A>T (p.Asn823Tyr)
n.329+3542T>A
6g.33443065A>CCA363625592SYNGAP1,SYNGAP1-AS1c.2255A>C (p.Asn752Thr)
c.2513A>C (p.Asn838Thr)
c.2471A>C (p.Asn824Thr)
c.2336A>C (p.Asn779Thr)
c.2468A>C (p.Asn823Thr)
n.329+3541T>G
6g.33443065A>GCA363625594SYNGAP1,SYNGAP1-AS1c.2255A>G (p.Asn752Ser)
c.2513A>G (p.Asn838Ser)
c.2471A>G (p.Asn824Ser)
c.2336A>G (p.Asn779Ser)
c.2468A>G (p.Asn823Ser)
n.329+3541T>C
6g.33443065A>TCA363625596SYNGAP1,SYNGAP1-AS1c.2255A>T (p.Asn752Ile)
c.2513A>T (p.Asn838Ile)
c.2471A>T (p.Asn824Ile)
c.2336A>T (p.Asn779Ile)
c.2468A>T (p.Asn823Ile)
n.329+3541T>A
6g.33443066C>ACA363625599SYNGAP1,SYNGAP1-AS1c.2256C>A (p.Asn752Lys)
c.2514C>A (p.Asn838Lys)
c.2472C>A (p.Asn824Lys)
c.2337C>A (p.Asn779Lys)
c.2469C>A (p.Asn823Lys)
n.329+3540G>T
 ClinVar dbSNP gnomAD v2
6g.33443066C=CA1620014488SYNGAP1,SYNGAP1-AS1c.2256C= (p.Asn752=)
c.2514C= (p.Asn838=)
c.2472C= (p.Asn824=)
c.2337C= (p.Asn779=)
c.2469C= (p.Asn823=)
n.329+3540G=
6g.33443066C>GCA363625601SYNGAP1,SYNGAP1-AS1c.2256C>G (p.Asn752Lys)
c.2514C>G (p.Asn838Lys)
c.2472C>G (p.Asn824Lys)
c.2337C>G (p.Asn779Lys)
c.2469C>G (p.Asn823Lys)
n.329+3540G>C
6g.33443066C>TCA450103693SYNGAP1,SYNGAP1-AS1c.2256C>T (p.Asn752=)
c.2514C>T (p.Asn838=)
c.2472C>T (p.Asn824=)
c.2337C>T (p.Asn779=)
c.2469C>T (p.Asn823=)
n.329+3540G>A
 gnomAD v4
6g.33443067A>CCA363625604SYNGAP1,SYNGAP1-AS1c.2257A>C (p.Lys753Gln)
c.2515A>C (p.Lys839Gln)
c.2473A>C (p.Lys825Gln)
c.2338A>C (p.Lys780Gln)
c.2470A>C (p.Lys824Gln)
n.329+3539T>G
6g.33443067A>GCA363625605SYNGAP1,SYNGAP1-AS1c.2257A>G (p.Lys753Glu)
c.2515A>G (p.Lys839Glu)
c.2473A>G (p.Lys825Glu)
c.2338A>G (p.Lys780Glu)
c.2470A>G (p.Lys824Glu)
n.329+3539T>C
6g.33443067A>TCA363625608SYNGAP1,SYNGAP1-AS1c.2257A>T (p.Lys753Ter)
c.2515A>T (p.Lys839Ter)
c.2473A>T (p.Lys825Ter)
c.2338A>T (p.Lys780Ter)
c.2470A>T (p.Lys824Ter)
n.329+3539T>A
6g.33443068dupCA2573140290SYNGAP1,SYNGAP1-AS1c.2258dup (p.Ser754GlufsTer10)
c.2516dup (p.Ser840GlufsTer10)
c.2474dup (p.Ser826GlufsTer10)
c.2339dup (p.Ser781GlufsTer10)
c.2471dup (p.Ser825GlufsTer10)
n.329+3539dup
 ClinVar dbSNP
6g.33443068A>CCA363625611SYNGAP1,SYNGAP1-AS1c.2258A>C (p.Lys753Thr)
c.2516A>C (p.Lys839Thr)
c.2474A>C (p.Lys825Thr)
c.2339A>C (p.Lys780Thr)
c.2471A>C (p.Lys824Thr)
n.329+3538T>G
6g.33443068A>GCA363625614SYNGAP1,SYNGAP1-AS1c.2258A>G (p.Lys753Arg)
c.2516A>G (p.Lys839Arg)
c.2474A>G (p.Lys825Arg)
c.2339A>G (p.Lys780Arg)
c.2471A>G (p.Lys824Arg)
n.329+3538T>C
 gnomAD v4
6g.33443068A>TCA363625618SYNGAP1,SYNGAP1-AS1c.2258A>T (p.Lys753Met)
c.2516A>T (p.Lys839Met)
c.2474A>T (p.Lys825Met)
c.2339A>T (p.Lys780Met)
c.2471A>T (p.Lys824Met)
n.329+3538T>A
6g.33443069G>ACA450103694SYNGAP1,SYNGAP1-AS1c.2259G>A (p.Lys753=)
c.2517G>A (p.Lys839=)
c.2475G>A (p.Lys825=)
c.2340G>A (p.Lys780=)
c.2472G>A (p.Lys824=)
n.329+3537C>T
 gnomAD v4
6g.33443069G>CCA363625622SYNGAP1,SYNGAP1-AS1c.2259G>C (p.Lys753Asn)
c.2517G>C (p.Lys839Asn)
c.2475G>C (p.Lys825Asn)
c.2340G>C (p.Lys780Asn)
c.2472G>C (p.Lys824Asn)
n.329+3537C>G
6g.33443069G>TCA363625624SYNGAP1,SYNGAP1-AS1c.2259G>T (p.Lys753Asn)
c.2517G>T (p.Lys839Asn)
c.2475G>T (p.Lys825Asn)
c.2340G>T (p.Lys780Asn)
c.2472G>T (p.Lys824Asn)
n.329+3537C>A
6g.33443070A>CCA363625629SYNGAP1,SYNGAP1-AS1c.2260A>C (p.Ser754Arg)
c.2518A>C (p.Ser840Arg)
c.2476A>C (p.Ser826Arg)
c.2341A>C (p.Ser781Arg)
c.2473A>C (p.Ser825Arg)
n.329+3536T>G
6g.33443070A>GCA363625632SYNGAP1,SYNGAP1-AS1c.2260A>G (p.Ser754Gly)
c.2518A>G (p.Ser840Gly)
c.2476A>G (p.Ser826Gly)
c.2341A>G (p.Ser781Gly)
c.2473A>G (p.Ser825Gly)
n.329+3536T>C
6g.33443070A>TCA363625627SYNGAP1,SYNGAP1-AS1c.2260A>T (p.Ser754Cys)
c.2518A>T (p.Ser840Cys)
c.2476A>T (p.Ser826Cys)
c.2341A>T (p.Ser781Cys)
c.2473A>T (p.Ser825Cys)
n.329+3536T>A
 ClinVar
6g.33443071G>ACA363625635SYNGAP1,SYNGAP1-AS1c.2261G>A (p.Ser754Asn)
c.2519G>A (p.Ser840Asn)
c.2477G>A (p.Ser826Asn)
c.2342G>A (p.Ser781Asn)
c.2474G>A (p.Ser825Asn)
n.329+3535C>T
6g.33443071G>CCA363625637SYNGAP1,SYNGAP1-AS1c.2261G>C (p.Ser754Thr)
c.2519G>C (p.Ser840Thr)
c.2477G>C (p.Ser826Thr)
c.2342G>C (p.Ser781Thr)
c.2474G>C (p.Ser825Thr)
n.329+3535C>G
6g.33443071G>TCA363625639SYNGAP1,SYNGAP1-AS1c.2261G>T (p.Ser754Ile)
c.2519G>T (p.Ser840Ile)
c.2477G>T (p.Ser826Ile)
c.2342G>T (p.Ser781Ile)
c.2474G>T (p.Ser825Ile)
n.329+3535C>A
6g.33443072T>ACA363625642SYNGAP1,SYNGAP1-AS1c.2262T>A (p.Ser754Arg)
c.2520T>A (p.Ser840Arg)
c.2478T>A (p.Ser826Arg)
c.2343T>A (p.Ser781Arg)
c.2475T>A (p.Ser825Arg)
n.329+3534A>T
6g.33443072T>CCA3758916SYNGAP1,SYNGAP1-AS1c.2262T>C (p.Ser754=)
c.2520T>C (p.Ser840=)
c.2478T>C (p.Ser826=)
c.2343T>C (p.Ser781=)
c.2475T>C (p.Ser825=)
n.329+3534A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.33443072T>GCA363625644SYNGAP1,SYNGAP1-AS1c.2262T>G (p.Ser754Arg)
c.2520T>G (p.Ser840Arg)
c.2478T>G (p.Ser826Arg)
c.2343T>G (p.Ser781Arg)
c.2475T>G (p.Ser825Arg)
n.329+3534A>C
6g.33443072T=CA1620014489SYNGAP1,SYNGAP1-AS1c.2262T= (p.Ser754=)
c.2520T= (p.Ser840=)
c.2478T= (p.Ser826=)
c.2343T= (p.Ser781=)
c.2475T= (p.Ser825=)
n.329+3534A=
6g.33443073G>ACA363625652SYNGAP1,SYNGAP1-AS1c.2263G>A (p.Val755Met)
c.2521G>A (p.Val841Met)
c.2479G>A (p.Val827Met)
c.2344G>A (p.Val782Met)
c.2476G>A (p.Val826Met)
n.329+3533C>T
 ClinVar gnomAD v4
6g.33443073G>CCA363625650SYNGAP1,SYNGAP1-AS1c.2263G>C (p.Val755Leu)
c.2521G>C (p.Val841Leu)
c.2479G>C (p.Val827Leu)
c.2344G>C (p.Val782Leu)
c.2476G>C (p.Val826Leu)
n.329+3533C>G
6g.33443073G>TCA363625647SYNGAP1,SYNGAP1-AS1c.2263G>T (p.Val755Leu)
c.2521G>T (p.Val841Leu)
c.2479G>T (p.Val827Leu)
c.2344G>T (p.Val782Leu)
c.2476G>T (p.Val826Leu)
n.329+3533C>A
6g.33443074T>ACA363625655SYNGAP1,SYNGAP1-AS1c.2264T>A (p.Val755Glu)
c.2522T>A (p.Val841Glu)
c.2480T>A (p.Val827Glu)
c.2345T>A (p.Val782Glu)
c.2477T>A (p.Val826Glu)
n.329+3532A>T
6g.33443074T>CCA363625656SYNGAP1,SYNGAP1-AS1c.2264T>C (p.Val755Ala)
c.2522T>C (p.Val841Ala)
c.2480T>C (p.Val827Ala)
c.2345T>C (p.Val782Ala)
c.2477T>C (p.Val826Ala)
n.329+3532A>G
 ClinVar dbSNP gnomAD v3 gnomAD v4
6g.33443074T>GCA363625659SYNGAP1,SYNGAP1-AS1c.2264T>G (p.Val755Gly)
c.2522T>G (p.Val841Gly)
c.2480T>G (p.Val827Gly)
c.2345T>G (p.Val782Gly)
c.2477T>G (p.Val826Gly)
n.329+3532A>C
6g.33443074T=CA1620014490SYNGAP1,SYNGAP1-AS1c.2264T= (p.Val755=)
c.2522T= (p.Val841=)
c.2480T= (p.Val827=)
c.2345T= (p.Val782=)
c.2477T= (p.Val826=)
n.329+3532A=
6g.33443075G>ACA450103695SYNGAP1,SYNGAP1-AS1c.2265G>A (p.Val755=)
c.2523G>A (p.Val841=)
c.2481G>A (p.Val827=)
c.2346G>A (p.Val782=)
c.2478G>A (p.Val826=)
n.329+3531C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.33443075G>CCA450103696SYNGAP1,SYNGAP1-AS1c.2265G>C (p.Val755=)
c.2523G>C (p.Val841=)
c.2481G>C (p.Val827=)
c.2346G>C (p.Val782=)
c.2478G>C (p.Val826=)
n.329+3531C>G
6g.33443075G=CA1620014491SYNGAP1,SYNGAP1-AS1c.2265G= (p.Val755=)
c.2523G= (p.Val841=)
c.2481G= (p.Val827=)
c.2346G= (p.Val782=)
c.2478G= (p.Val826=)
n.329+3531C=
6g.33443075G>TCA450103697SYNGAP1,SYNGAP1-AS1c.2265G>T (p.Val755=)
c.2523G>T (p.Val841=)
c.2481G>T (p.Val827=)
c.2346G>T (p.Val782=)
c.2478G>T (p.Val826=)
n.329+3531C>A
6g.33443076T>ACA363625660SYNGAP1,SYNGAP1-AS1c.2266T>A (p.Ser756Thr)
c.2524T>A (p.Ser842Thr)
c.2482T>A (p.Ser828Thr)
c.2347T>A (p.Ser783Thr)
c.2479T>A (p.Ser827Thr)
n.329+3530A>T
6g.33443076T>CCA363625663SYNGAP1,SYNGAP1-AS1c.2266T>C (p.Ser756Pro)
c.2524T>C (p.Ser842Pro)
c.2482T>C (p.Ser828Pro)
c.2347T>C (p.Ser783Pro)
c.2479T>C (p.Ser827Pro)
n.329+3530A>G
6g.33443076T>GCA363625665SYNGAP1,SYNGAP1-AS1c.2266T>G (p.Ser756Ala)
c.2524T>G (p.Ser842Ala)
c.2482T>G (p.Ser828Ala)
c.2347T>G (p.Ser783Ala)
c.2479T>G (p.Ser827Ala)
n.329+3530A>C
6g.33443077_33443080dupCA1139659338SYNGAP1,SYNGAP1-AS1c.2267_2270dup (p.Met757IlefsTer8)
c.2525_2528dup (p.Met843IlefsTer8)
c.2483_2486dup (p.Met829IlefsTer8)
c.2348_2351dup (p.Met784IlefsTer8)
c.2480_2483dup (p.Met828IlefsTer8)
n.329+3527_329+3530dup
 ClinVar dbSNP
6g.33443077C>ACA363625668SYNGAP1,SYNGAP1-AS1c.2267C>A (p.Ser756Tyr)
c.2525C>A (p.Ser842Tyr)
c.2483C>A (p.Ser828Tyr)
c.2348C>A (p.Ser783Tyr)
c.2480C>A (p.Ser827Tyr)
n.329+3529G>T
 ClinVar dbSNP
6g.33443077C=CA1620014492SYNGAP1,SYNGAP1-AS1c.2267C= (p.Ser756=)
c.2525C= (p.Ser842=)
c.2483C= (p.Ser828=)
c.2348C= (p.Ser783=)
c.2480C= (p.Ser827=)
n.329+3529G=
6g.33443077C>GCA363625672SYNGAP1,SYNGAP1-AS1c.2267C>G (p.Ser756Cys)
c.2525C>G (p.Ser842Cys)
c.2483C>G (p.Ser828Cys)
c.2348C>G (p.Ser783Cys)
c.2480C>G (p.Ser827Cys)
n.329+3529G>C
6g.33443077C>TCA363625670SYNGAP1,SYNGAP1-AS1c.2267C>T (p.Ser756Phe)
c.2525C>T (p.Ser842Phe)
c.2483C>T (p.Ser828Phe)
c.2348C>T (p.Ser783Phe)
c.2480C>T (p.Ser827Phe)
n.329+3529G>A
6g.33443078C>ACA450103698SYNGAP1,SYNGAP1-AS1c.2268C>A (p.Ser756=)
c.2526C>A (p.Ser842=)
c.2484C>A (p.Ser828=)
c.2349C>A (p.Ser783=)
c.2481C>A (p.Ser827=)
n.329+3528G>T
6g.33443078C>GCA450103699SYNGAP1,SYNGAP1-AS1c.2268C>G (p.Ser756=)
c.2526C>G (p.Ser842=)
c.2484C>G (p.Ser828=)
c.2349C>G (p.Ser783=)
c.2481C>G (p.Ser827=)
n.329+3528G>C
6g.33443078C>TCA450103700SYNGAP1,SYNGAP1-AS1c.2268C>T (p.Ser756=)
c.2526C>T (p.Ser842=)
c.2484C>T (p.Ser828=)
c.2349C>T (p.Ser783=)
c.2481C>T (p.Ser827=)
n.329+3528G>A
6g.33443079A>CCA363625674SYNGAP1,SYNGAP1-AS1c.2269A>C (p.Met757Leu)
c.2527A>C (p.Met843Leu)
c.2485A>C (p.Met829Leu)
c.2350A>C (p.Met784Leu)
c.2482A>C (p.Met828Leu)
n.329+3527T>G
6g.33443079A>GCA363625675SYNGAP1,SYNGAP1-AS1c.2269A>G (p.Met757Val)
c.2527A>G (p.Met843Val)
c.2485A>G (p.Met829Val)
c.2350A>G (p.Met784Val)
c.2482A>G (p.Met828Val)
n.329+3527T>C
6g.33443079A>TCA363625678SYNGAP1,SYNGAP1-AS1c.2269A>T (p.Met757Leu)
c.2527A>T (p.Met843Leu)
c.2485A>T (p.Met829Leu)
c.2350A>T (p.Met784Leu)
c.2482A>T (p.Met828Leu)
n.329+3527T>A
6g.33443080T>ACA363625681SYNGAP1,SYNGAP1-AS1c.2270T>A (p.Met757Lys)
c.2528T>A (p.Met843Lys)
c.2486T>A (p.Met829Lys)
c.2351T>A (p.Met784Lys)
c.2483T>A (p.Met828Lys)
n.329+3526A>T
6g.33443080T>CCA363625683SYNGAP1,SYNGAP1-AS1c.2270T>C (p.Met757Thr)
c.2528T>C (p.Met843Thr)
c.2486T>C (p.Met829Thr)
c.2351T>C (p.Met784Thr)
c.2483T>C (p.Met828Thr)
n.329+3526A>G
6g.33443080T>GCA363625685SYNGAP1,SYNGAP1-AS1c.2270T>G (p.Met757Arg)
c.2528T>G (p.Met843Arg)
c.2486T>G (p.Met829Arg)
c.2351T>G (p.Met784Arg)
c.2483T>G (p.Met828Arg)
n.329+3526A>C
6g.33443081G>ACA363625687SYNGAP1,SYNGAP1-AS1c.2271G>A (p.Met757Ile)
c.2529G>A (p.Met843Ile)
c.2487G>A (p.Met829Ile)
c.2352G>A (p.Met784Ile)
c.2484G>A (p.Met828Ile)
n.329+3525C>T
 gnomAD v4
6g.33443081G>CCA363625689SYNGAP1,SYNGAP1-AS1c.2271G>C (p.Met757Ile)
c.2529G>C (p.Met843Ile)
c.2487G>C (p.Met829Ile)
c.2352G>C (p.Met784Ile)
c.2484G>C (p.Met828Ile)
n.329+3525C>G
6g.33443081G>TCA363625692SYNGAP1,SYNGAP1-AS1c.2271G>T (p.Met757Ile)
c.2529G>T (p.Met843Ile)
c.2487G>T (p.Met829Ile)
c.2352G>T (p.Met784Ile)
c.2484G>T (p.Met828Ile)
n.329+3525C>A
6g.33443082C>ACA363625694SYNGAP1,SYNGAP1-AS1c.2272C>A (p.Leu758Met)
c.2530C>A (p.Leu844Met)
c.2488C>A (p.Leu830Met)
c.2353C>A (p.Leu785Met)
c.2485C>A (p.Leu829Met)
n.329+3524G>T
6g.33443082C>GCA363625697SYNGAP1,SYNGAP1-AS1c.2272C>G (p.Leu758Val)
c.2530C>G (p.Leu844Val)
c.2488C>G (p.Leu830Val)
c.2353C>G (p.Leu785Val)
c.2485C>G (p.Leu829Val)
n.329+3524G>C
6g.33443082C>TCA450103701SYNGAP1,SYNGAP1-AS1c.2272C>T (p.Leu758=)
c.2530C>T (p.Leu844=)
c.2488C>T (p.Leu830=)
c.2353C>T (p.Leu785=)
c.2485C>T (p.Leu829=)
n.329+3524G>A
6g.33443083T>ACA363625699SYNGAP1,SYNGAP1-AS1c.2273T>A (p.Leu758Gln)
c.2531T>A (p.Leu844Gln)
c.2489T>A (p.Leu830Gln)
c.2354T>A (p.Leu785Gln)
c.2486T>A (p.Leu829Gln)
n.329+3523A>T
6g.33443083T>CCA363625704SYNGAP1,SYNGAP1-AS1c.2273T>C (p.Leu758Pro)
c.2531T>C (p.Leu844Pro)
c.2489T>C (p.Leu830Pro)
c.2354T>C (p.Leu785Pro)
c.2486T>C (p.Leu829Pro)
n.329+3523A>G
6g.33443083T>GCA363625701SYNGAP1,SYNGAP1-AS1c.2273T>G (p.Leu758Arg)
c.2531T>G (p.Leu844Arg)
c.2489T>G (p.Leu830Arg)
c.2354T>G (p.Leu785Arg)
c.2486T>G (p.Leu829Arg)
n.329+3523A>C
6g.33443084G>ACA450103702SYNGAP1,SYNGAP1-AS1c.2274G>A (p.Leu758=)
c.2532G>A (p.Leu844=)
c.2490G>A (p.Leu830=)
c.2355G>A (p.Leu785=)
c.2487G>A (p.Leu829=)
n.329+3522C>T
6g.33443084G>CCA450103704SYNGAP1,SYNGAP1-AS1c.2274G>C (p.Leu758=)
c.2532G>C (p.Leu844=)
c.2490G>C (p.Leu830=)
c.2355G>C (p.Leu785=)
c.2487G>C (p.Leu829=)
n.329+3522C>G
6g.33443084G>TCA450103703SYNGAP1,SYNGAP1-AS1c.2274G>T (p.Leu758=)
c.2532G>T (p.Leu844=)
c.2490G>T (p.Leu830=)
c.2355G>T (p.Leu785=)
c.2487G>T (p.Leu829=)
n.329+3522C>A
6g.33443085G>ACA363625706SYNGAP1,SYNGAP1-AS1c.2275G>A (p.Asp759Asn)
c.2533G>A (p.Asp845Asn)
c.2491G>A (p.Asp831Asn)
c.2356G>A (p.Asp786Asn)
c.2488G>A (p.Asp830Asn)
n.329+3521C>T
6g.33443085G>CCA363625707SYNGAP1,SYNGAP1-AS1c.2275G>C (p.Asp759His)
c.2533G>C (p.Asp845His)
c.2491G>C (p.Asp831His)
c.2356G>C (p.Asp786His)
c.2488G>C (p.Asp830His)
n.329+3521C>G
6g.33443085G>TCA363625710SYNGAP1,SYNGAP1-AS1c.2275G>T (p.Asp759Tyr)
c.2533G>T (p.Asp845Tyr)
c.2491G>T (p.Asp831Tyr)
c.2356G>T (p.Asp786Tyr)
c.2488G>T (p.Asp830Tyr)
n.329+3521C>A
6g.33443086A>CCA363625713SYNGAP1,SYNGAP1-AS1c.2276A>C (p.Asp759Ala)
c.2534A>C (p.Asp845Ala)
c.2492A>C (p.Asp831Ala)
c.2357A>C (p.Asp786Ala)
c.2489A>C (p.Asp830Ala)
n.329+3520T>G
6g.33443086A>GCA363625716SYNGAP1,SYNGAP1-AS1c.2276A>G (p.Asp759Gly)
c.2534A>G (p.Asp845Gly)
c.2492A>G (p.Asp831Gly)
c.2357A>G (p.Asp786Gly)
c.2489A>G (p.Asp830Gly)
n.329+3520T>C
6g.33443086A>TCA363625718SYNGAP1,SYNGAP1-AS1c.2276A>T (p.Asp759Val)
c.2534A>T (p.Asp845Val)
c.2492A>T (p.Asp831Val)
c.2357A>T (p.Asp786Val)
c.2489A>T (p.Asp830Val)
n.329+3520T>A
6g.33443087C>ACA363625721SYNGAP1,SYNGAP1-AS1c.2277C>A (p.Asp759Glu)
c.2535C>A (p.Asp845Glu)
c.2493C>A (p.Asp831Glu)
c.2358C>A (p.Asp786Glu)
c.2490C>A (p.Asp830Glu)
n.329+3519G>T
6g.33443087C>GCA363625723SYNGAP1,SYNGAP1-AS1c.2277C>G (p.Asp759Glu)
c.2535C>G (p.Asp845Glu)
c.2493C>G (p.Asp831Glu)
c.2358C>G (p.Asp786Glu)
c.2490C>G (p.Asp830Glu)
n.329+3519G>C
6g.33443087C>TCA450103705SYNGAP1,SYNGAP1-AS1c.2277C>T (p.Asp759=)
c.2535C>T (p.Asp845=)
c.2493C>T (p.Asp831=)
c.2358C>T (p.Asp786=)
c.2490C>T (p.Asp830=)
n.329+3519G>A
6g.33443088T>ACA363625726SYNGAP1,SYNGAP1-AS1c.2278T>A (p.Leu760Ile)
c.2536T>A (p.Leu846Ile)
c.2494T>A (p.Leu832Ile)
c.2359T>A (p.Leu787Ile)
c.2491T>A (p.Leu831Ile)
n.329+3518A>T
6g.33443088T>CCA450103706SYNGAP1,SYNGAP1-AS1c.2278T>C (p.Leu760=)
c.2536T>C (p.Leu846=)
c.2494T>C (p.Leu832=)
c.2359T>C (p.Leu787=)
c.2491T>C (p.Leu831=)
n.329+3518A>G
6g.33443088T>GCA363625728SYNGAP1,SYNGAP1-AS1c.2278T>G (p.Leu760Val)
c.2536T>G (p.Leu846Val)
c.2494T>G (p.Leu832Val)
c.2359T>G (p.Leu787Val)
c.2491T>G (p.Leu831Val)
n.329+3518A>C
6g.33443089T>ACA363625730SYNGAP1,SYNGAP1-AS1c.2279T>A (p.Leu760Ter)
c.2537T>A (p.Leu846Ter)
c.2495T>A (p.Leu832Ter)
c.2360T>A (p.Leu787Ter)
c.2492T>A (p.Leu831Ter)
n.329+3517A>T
6g.33443089T>CCA363625732SYNGAP1,SYNGAP1-AS1c.2279T>C (p.Leu760Ser)
c.2537T>C (p.Leu846Ser)
c.2495T>C (p.Leu832Ser)
c.2360T>C (p.Leu787Ser)
c.2492T>C (p.Leu831Ser)
n.329+3517A>G
6g.33443089T>GCA363625734SYNGAP1,SYNGAP1-AS1c.2279T>G (p.Leu760Ter)
c.2537T>G (p.Leu846Ter)
c.2495T>G (p.Leu832Ter)
c.2360T>G (p.Leu787Ter)
c.2492T>G (p.Leu831Ter)
n.329+3517A>C
6g.33443090A>CCA363625738SYNGAP1,SYNGAP1-AS1c.2280A>C (p.Leu760Phe)
c.2538A>C (p.Leu846Phe)
c.2496A>C (p.Leu832Phe)
c.2361A>C (p.Leu787Phe)
c.2493A>C (p.Leu831Phe)
n.329+3516T>G
6g.33443090A>GCA450103707SYNGAP1,SYNGAP1-AS1c.2280A>G (p.Leu760=)
c.2538A>G (p.Leu846=)
c.2496A>G (p.Leu832=)
c.2361A>G (p.Leu787=)
c.2493A>G (p.Leu831=)
n.329+3516T>C
6g.33443090A>TCA363625740SYNGAP1,SYNGAP1-AS1c.2280A>T (p.Leu760Phe)
c.2538A>T (p.Leu846Phe)
c.2496A>T (p.Leu832Phe)
c.2361A>T (p.Leu787Phe)
c.2493A>T (p.Leu831Phe)
n.329+3516T>A
6g.33443090dupCA2573052681SYNGAP1,SYNGAP1-AS1c.2280dup (p.Gln761ThrfsTer3)
c.2538dup (p.Gln847ThrfsTer3)
c.2496dup (p.Gln833ThrfsTer3)
c.2361dup (p.Gln788ThrfsTer3)
c.2493dup (p.Gln832ThrfsTer3)
n.329+3516dup
 ClinVar dbSNP
6g.33443091C>ACA363625742SYNGAP1,SYNGAP1-AS1c.2281C>A (p.Gln761Lys)
c.2539C>A (p.Gln847Lys)
c.2497C>A (p.Gln833Lys)
c.2362C>A (p.Gln788Lys)
c.2494C>A (p.Gln832Lys)
n.329+3515G>T
6g.33443091C=CA1620014493SYNGAP1,SYNGAP1-AS1c.2281C= (p.Gln761=)
c.2539C= (p.Gln847=)
c.2497C= (p.Gln833=)
c.2362C= (p.Gln788=)
c.2494C= (p.Gln832=)
n.329+3515G=
6g.33443091C>GCA363625744SYNGAP1,SYNGAP1-AS1c.2281C>G (p.Gln761Glu)
c.2539C>G (p.Gln847Glu)
c.2497C>G (p.Gln833Glu)
c.2362C>G (p.Gln788Glu)
c.2494C>G (p.Gln832Glu)
n.329+3515G>C
6g.33443091C>TCA363625747SYNGAP1,SYNGAP1-AS1c.2281C>T (p.Gln761Ter)
c.2539C>T (p.Gln847Ter)
c.2497C>T (p.Gln833Ter)
c.2362C>T (p.Gln788Ter)
c.2494C>T (p.Gln832Ter)
n.329+3515G>A
 ClinVar dbSNP
6g.33443092A>CCA363625751SYNGAP1,SYNGAP1-AS1c.2282A>C (p.Gln761Pro)
c.2540A>C (p.Gln847Pro)
c.2498A>C (p.Gln833Pro)
c.2363A>C (p.Gln788Pro)
c.2495A>C (p.Gln832Pro)
n.329+3514T>G
6g.33443092A>GCA363625754SYNGAP1,SYNGAP1-AS1c.2282A>G (p.Gln761Arg)
c.2540A>G (p.Gln847Arg)
c.2498A>G (p.Gln833Arg)
c.2363A>G (p.Gln788Arg)
c.2495A>G (p.Gln832Arg)
n.329+3514T>C
6g.33443092A>TCA363625755SYNGAP1,SYNGAP1-AS1c.2282A>T (p.Gln761Leu)
c.2540A>T (p.Gln847Leu)
c.2498A>T (p.Gln833Leu)
c.2363A>T (p.Gln788Leu)
c.2495A>T (p.Gln832Leu)
n.329+3514T>A
6g.33443093G>ACA450103708SYNGAP1,SYNGAP1-AS1c.2283G>A (p.Gln761=)
c.2541G>A (p.Gln847=)
c.2499G>A (p.Gln833=)
c.2364G>A (p.Gln788=)
c.2496G>A (p.Gln832=)
n.329+3513C>T
6g.33443093G>CCA363625756SYNGAP1,SYNGAP1-AS1c.2283G>C (p.Gln761His)
c.2541G>C (p.Gln847His)
c.2499G>C (p.Gln833His)
c.2364G>C (p.Gln788His)
c.2496G>C (p.Gln832His)
n.329+3513C>G
6g.33443093G>TCA363625764SYNGAP1,SYNGAP1-AS1c.2283G>T (p.Gln761His)
c.2541G>T (p.Gln847His)
c.2499G>T (p.Gln833His)
c.2364G>T (p.Gln788His)
c.2496G>T (p.Gln832His)
n.329+3513C>A
6g.33443094G>ACA363625769SYNGAP1,SYNGAP1-AS1c.2284G>A (p.Gly762Ser)
c.2542G>A (p.Gly848Ser)
c.2500G>A (p.Gly834Ser)
c.2365G>A (p.Gly789Ser)
c.2497G>A (p.Gly833Ser)
n.329+3512C>T
6g.33443094G>CCA363625771SYNGAP1,SYNGAP1-AS1c.2284G>C (p.Gly762Arg)
c.2542G>C (p.Gly848Arg)
c.2500G>C (p.Gly834Arg)
c.2365G>C (p.Gly789Arg)
c.2497G>C (p.Gly833Arg)
n.329+3512C>G
6g.33443094G>TCA363625773SYNGAP1,SYNGAP1-AS1c.2284G>T (p.Gly762Cys)
c.2542G>T (p.Gly848Cys)
c.2500G>T (p.Gly834Cys)
c.2365G>T (p.Gly789Cys)
c.2497G>T (p.Gly833Cys)
n.329+3512C>A
6g.33443095G>ACA363625780SYNGAP1,SYNGAP1-AS1c.2285G>A (p.Gly762Asp)
c.2543G>A (p.Gly848Asp)
c.2501G>A (p.Gly834Asp)
c.2366G>A (p.Gly789Asp)
c.2498G>A (p.Gly833Asp)
n.329+3511C>T
6g.33443095G>CCA363625779SYNGAP1,SYNGAP1-AS1c.2285G>C (p.Gly762Ala)
c.2543G>C (p.Gly848Ala)
c.2501G>C (p.Gly834Ala)
c.2366G>C (p.Gly789Ala)
c.2498G>C (p.Gly833Ala)
n.329+3511C>G
6g.33443095G>TCA363625776SYNGAP1,SYNGAP1-AS1c.2285G>T (p.Gly762Val)
c.2543G>T (p.Gly848Val)
c.2501G>T (p.Gly834Val)
c.2366G>T (p.Gly789Val)
c.2498G>T (p.Gly833Val)
n.329+3511C>A
 gnomAD v4
6g.33443096T>ACA450103709SYNGAP1,SYNGAP1-AS1c.2286T>A (p.Gly762=)
c.2544T>A (p.Gly848=)
c.2502T>A (p.Gly834=)
c.2367T>A (p.Gly789=)
c.2499T>A (p.Gly833=)
n.329+3510A>T
6g.33443096T>CCA450103711SYNGAP1,SYNGAP1-AS1c.2286T>C (p.Gly762=)
c.2544T>C (p.Gly848=)
c.2502T>C (p.Gly834=)
c.2367T>C (p.Gly789=)
c.2499T>C (p.Gly833=)
n.329+3510A>G
6g.33443096T>GCA450103710SYNGAP1,SYNGAP1-AS1c.2286T>G (p.Gly762=)
c.2544T>G (p.Gly848=)
c.2502T>G (p.Gly834=)
c.2367T>G (p.Gly789=)
c.2499T>G (p.Gly833=)
n.329+3510A>C
6g.33443097G>ACA363625784SYNGAP1,SYNGAP1-AS1c.2287G>A (p.Asp763Asn)
c.2545G>A (p.Asp849Asn)
c.2503G>A (p.Asp835Asn)
c.2368G>A (p.Asp790Asn)
c.2500G>A (p.Asp834Asn)
n.329+3509C>T
6g.33443097G>CCA363625788SYNGAP1,SYNGAP1-AS1c.2287G>C (p.Asp763His)
c.2545G>C (p.Asp849His)
c.2503G>C (p.Asp835His)
c.2368G>C (p.Asp790His)
c.2500G>C (p.Asp834His)
n.329+3509C>G
6g.33443097G>TCA363625786SYNGAP1,SYNGAP1-AS1c.2287G>T (p.Asp763Tyr)
c.2545G>T (p.Asp849Tyr)
c.2503G>T (p.Asp835Tyr)
c.2368G>T (p.Asp790Tyr)
c.2500G>T (p.Asp834Tyr)
n.329+3509C>A
6g.33443098A>CCA363625790SYNGAP1,SYNGAP1-AS1c.2288A>C (p.Asp763Ala)
c.2546A>C (p.Asp849Ala)
c.2504A>C (p.Asp835Ala)
c.2369A>C (p.Asp790Ala)
c.2501A>C (p.Asp834Ala)
n.329+3508T>G
6g.33443098A>GCA363625796SYNGAP1,SYNGAP1-AS1c.2288A>G (p.Asp763Gly)
c.2546A>G (p.Asp849Gly)
c.2504A>G (p.Asp835Gly)
c.2369A>G (p.Asp790Gly)
c.2501A>G (p.Asp834Gly)
n.329+3508T>C
6g.33443098A>TCA363625793SYNGAP1,SYNGAP1-AS1c.2288A>T (p.Asp763Val)
c.2546A>T (p.Asp849Val)
c.2504A>T (p.Asp835Val)
c.2369A>T (p.Asp790Val)
c.2501A>T (p.Asp834Val)
n.329+3508T>A
6g.33443099T>ACA363625799SYNGAP1,SYNGAP1-AS1c.2289T>A (p.Asp763Glu)
c.2547T>A (p.Asp849Glu)
c.2505T>A (p.Asp835Glu)
c.2370T>A (p.Asp790Glu)
c.2502T>A (p.Asp834Glu)
n.329+3507A>T
6g.33443099T>CCA450103712SYNGAP1,SYNGAP1-AS1c.2289T>C (p.Asp763=)
c.2547T>C (p.Asp849=)
c.2505T>C (p.Asp835=)
c.2370T>C (p.Asp790=)
c.2502T>C (p.Asp834=)
n.329+3507A>G
6g.33443099T>GCA363625800SYNGAP1,SYNGAP1-AS1c.2289T>G (p.Asp763Glu)
c.2547T>G (p.Asp849Glu)
c.2505T>G (p.Asp835Glu)
c.2370T>G (p.Asp790Glu)
c.2502T>G (p.Asp834Glu)
n.329+3507A>C
6g.33443100G>ACA363625803SYNGAP1,SYNGAP1-AS1c.2290G>A (p.Gly764Arg)
c.2548G>A (p.Gly850Arg)
c.2506G>A (p.Gly836Arg)
c.2371G>A (p.Gly791Arg)
c.2503G>A (p.Gly835Arg)
n.329+3506C>T
 ClinVar
6g.33443100G>CCA363625806SYNGAP1,SYNGAP1-AS1c.2290G>C (p.Gly764Arg)
c.2548G>C (p.Gly850Arg)
c.2506G>C (p.Gly836Arg)
c.2371G>C (p.Gly791Arg)
c.2503G>C (p.Gly835Arg)
n.329+3506C>G
6g.33443100G>TCA363625809SYNGAP1,SYNGAP1-AS1c.2290G>T (p.Gly764Trp)
c.2548G>T (p.Gly850Trp)
c.2506G>T (p.Gly836Trp)
c.2371G>T (p.Gly791Trp)
c.2503G>T (p.Gly835Trp)
n.329+3506C>A
6g.33443102delCA2739272901SYNGAP1,SYNGAP1-AS1c.2292del (p.Pro765LeufsTer16)
c.2550del (p.Pro851LeufsTer16)
c.2508del (p.Pro837LeufsTer16)
c.2373del (p.Pro792LeufsTer16)
c.2505del (p.Pro836LeufsTer16)
n.329+3506del
 ClinVar
6g.33443101G>ACA363625812SYNGAP1,SYNGAP1-AS1c.2291G>A (p.Gly764Glu)
c.2549G>A (p.Gly850Glu)
c.2507G>A (p.Gly836Glu)
c.2372G>A (p.Gly791Glu)
c.2504G>A (p.Gly835Glu)
n.329+3505C>T
6g.33443101G>CCA363625815SYNGAP1,SYNGAP1-AS1c.2291G>C (p.Gly764Ala)
c.2549G>C (p.Gly850Ala)
c.2507G>C (p.Gly836Ala)
c.2372G>C (p.Gly791Ala)
c.2504G>C (p.Gly835Ala)
n.329+3505C>G
6g.33443101G>TCA363625817SYNGAP1,SYNGAP1-AS1c.2291G>T (p.Gly764Val)
c.2549G>T (p.Gly850Val)
c.2507G>T (p.Gly836Val)
c.2372G>T (p.Gly791Val)
c.2504G>T (p.Gly835Val)
n.329+3505C>A
6g.33443102G>ACA450103713SYNGAP1,SYNGAP1-AS1c.2292G>A (p.Gly764=)
c.2550G>A (p.Gly850=)
c.2508G>A (p.Gly836=)
c.2373G>A (p.Gly791=)
c.2505G>A (p.Gly835=)
n.329+3504C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
6g.33443102G>CCA450103714SYNGAP1,SYNGAP1-AS1c.2292G>C (p.Gly764=)
c.2550G>C (p.Gly850=)
c.2508G>C (p.Gly836=)
c.2373G>C (p.Gly791=)
c.2505G>C (p.Gly835=)
n.329+3504C>G
6g.33443102G=CA1620014494SYNGAP1,SYNGAP1-AS1c.2292G= (p.Gly764=)
c.2550G= (p.Gly850=)
c.2508G= (p.Gly836=)
c.2373G= (p.Gly791=)
c.2505G= (p.Gly835=)
n.329+3504C=
6g.33443102G>TCA450103715SYNGAP1,SYNGAP1-AS1c.2292G>T (p.Gly764=)
c.2550G>T (p.Gly850=)
c.2508G>T (p.Gly836=)
c.2373G>T (p.Gly791=)
c.2505G>T (p.Gly835=)
n.329+3504C>A
6g.33443103C>ACA363625820SYNGAP1,SYNGAP1-AS1c.2293C>A (p.Pro765Thr)
c.2551C>A (p.Pro851Thr)
c.2509C>A (p.Pro837Thr)
c.2374C>A (p.Pro792Thr)
c.2506C>A (p.Pro836Thr)
n.329+3503G>T
6g.33443103C>GCA363625822SYNGAP1,SYNGAP1-AS1c.2293C>G (p.Pro765Ala)
c.2551C>G (p.Pro851Ala)
c.2509C>G (p.Pro837Ala)
c.2374C>G (p.Pro792Ala)
c.2506C>G (p.Pro836Ala)
n.329+3503G>C
6g.33443103C>TCA363625823SYNGAP1,SYNGAP1-AS1c.2293C>T (p.Pro765Ser)
c.2551C>T (p.Pro851Ser)
c.2509C>T (p.Pro837Ser)
c.2374C>T (p.Pro792Ser)
c.2506C>T (p.Pro836Ser)
n.329+3503G>A
6g.33443104C>ACA363625825SYNGAP1,SYNGAP1-AS1c.2294C>A (p.Pro765His)
c.2552C>A (p.Pro851His)
c.2510C>A (p.Pro837His)
c.2375C>A (p.Pro792His)
c.2507C>A (p.Pro836His)
n.329+3502G>T
6g.33443104C>GCA363625827SYNGAP1,SYNGAP1-AS1c.2294C>G (p.Pro765Arg)
c.2552C>G (p.Pro851Arg)
c.2510C>G (p.Pro837Arg)
c.2375C>G (p.Pro792Arg)
c.2507C>G (p.Pro836Arg)
n.329+3502G>C
6g.33443104C>TCA363625830SYNGAP1,SYNGAP1-AS1c.2294C>T (p.Pro765Leu)
c.2552C>T (p.Pro851Leu)
c.2510C>T (p.Pro837Leu)
c.2375C>T (p.Pro792Leu)
c.2507C>T (p.Pro836Leu)
n.329+3502G>A
6g.33443105T>ACA450103718SYNGAP1,SYNGAP1-AS1c.2295T>A (p.Pro765=)
c.2553T>A (p.Pro851=)
c.2511T>A (p.Pro837=)
c.2376T>A (p.Pro792=)
c.2508T>A (p.Pro836=)
n.329+3501A>T
6g.33443105T>CCA450103717SYNGAP1,SYNGAP1-AS1c.2295T>C (p.Pro765=)
c.2553T>C (p.Pro851=)
c.2511T>C (p.Pro837=)
c.2376T>C (p.Pro792=)
c.2508T>C (p.Pro836=)
n.329+3501A>G
6g.33443105T>GCA450103716SYNGAP1,SYNGAP1-AS1c.2295T>G (p.Pro765=)
c.2553T>G (p.Pro851=)
c.2511T>G (p.Pro837=)
c.2376T>G (p.Pro792=)
c.2508T>G (p.Pro836=)
n.329+3501A>C
6g.33443106G>ACA363625832SYNGAP1,SYNGAP1-AS1c.2296G>A (p.Gly766Ser)
c.2554G>A (p.Gly852Ser)
c.2512G>A (p.Gly838Ser)
c.2377G>A (p.Gly793Ser)
c.2509G>A (p.Gly837Ser)
n.329+3500C>T
6g.33443106G>CCA363625836SYNGAP1,SYNGAP1-AS1c.2296G>C (p.Gly766Arg)
c.2554G>C (p.Gly852Arg)
c.2512G>C (p.Gly838Arg)
c.2377G>C (p.Gly793Arg)
c.2509G>C (p.Gly837Arg)
n.329+3500C>G
6g.33443106G>TCA363625833SYNGAP1,SYNGAP1-AS1c.2296G>T (p.Gly766Cys)
c.2554G>T (p.Gly852Cys)
c.2512G>T (p.Gly838Cys)
c.2377G>T (p.Gly793Cys)
c.2509G>T (p.Gly837Cys)
n.329+3500C>A
6g.33443107G>ACA363625840SYNGAP1,SYNGAP1-AS1c.2297G>A (p.Gly766Asp)
c.2555G>A (p.Gly852Asp)
c.2513G>A (p.Gly838Asp)
c.2378G>A (p.Gly793Asp)
c.2510G>A (p.Gly837Asp)
n.329+3499C>T
 dbSNP gnomAD v2 gnomAD v4
6g.33443107G>CCA363625842SYNGAP1,SYNGAP1-AS1c.2297G>C (p.Gly766Ala)
c.2555G>C (p.Gly852Ala)
c.2513G>C (p.Gly838Ala)
c.2378G>C (p.Gly793Ala)
c.2510G>C (p.Gly837Ala)
n.329+3499C>G
6g.33443107G=CA1620014495SYNGAP1,SYNGAP1-AS1c.2297G= (p.Gly766=)
c.2555G= (p.Gly852=)
c.2513G= (p.Gly838=)
c.2378G= (p.Gly793=)
c.2510G= (p.Gly837=)
n.329+3499C=
6g.33443107G>TCA363625845SYNGAP1,SYNGAP1-AS1c.2297G>T (p.Gly766Val)
c.2555G>T (p.Gly852Val)
c.2513G>T (p.Gly838Val)
c.2378G>T (p.Gly793Val)
c.2510G>T (p.Gly837Val)
n.329+3499C>A
6g.33443108T>ACA450103719SYNGAP1,SYNGAP1-AS1c.2298T>A (p.Gly766=)
c.2556T>A (p.Gly852=)
c.2514T>A (p.Gly838=)
c.2379T>A (p.Gly793=)
c.2511T>A (p.Gly837=)
n.329+3498A>T
6g.33443108T>CCA450103720SYNGAP1,SYNGAP1-AS1c.2298T>C (p.Gly766=)
c.2556T>C (p.Gly852=)
c.2514T>C (p.Gly838=)
c.2379T>C (p.Gly793=)
c.2511T>C (p.Gly837=)
n.329+3498A>G
6g.33443108T>GCA450103721SYNGAP1,SYNGAP1-AS1c.2298T>G (p.Gly766=)
c.2556T>G (p.Gly852=)
c.2514T>G (p.Gly838=)
c.2379T>G (p.Gly793=)
c.2511T>G (p.Gly837=)
n.329+3498A>C
6g.33443109G>ACA363625848SYNGAP1,SYNGAP1-AS1c.2299G>A (p.Gly767Ser)
c.2557G>A (p.Gly853Ser)
c.2515G>A (p.Gly839Ser)
c.2380G>A (p.Gly794Ser)
c.2512G>A (p.Gly838Ser)
n.329+3497C>T
6g.33443109G>CCA363625851SYNGAP1,SYNGAP1-AS1c.2299G>C (p.Gly767Arg)
c.2557G>C (p.Gly853Arg)
c.2515G>C (p.Gly839Arg)
c.2380G>C (p.Gly794Arg)
c.2512G>C (p.Gly838Arg)
n.329+3497C>G
6g.33443109G>TCA363625853SYNGAP1,SYNGAP1-AS1c.2299G>T (p.Gly767Cys)
c.2557G>T (p.Gly853Cys)
c.2515G>T (p.Gly839Cys)
c.2380G>T (p.Gly794Cys)
c.2512G>T (p.Gly838Cys)
n.329+3497C>A
6g.33443110G>ACA363625857SYNGAP1,SYNGAP1-AS1c.2300G>A (p.Gly767Asp)
c.2558G>A (p.Gly853Asp)
c.2516G>A (p.Gly839Asp)
c.2381G>A (p.Gly794Asp)
c.2513G>A (p.Gly838Asp)
n.329+3496C>T
6g.33443110G>CCA363625858SYNGAP1,SYNGAP1-AS1c.2300G>C (p.Gly767Ala)
c.2558G>C (p.Gly853Ala)
c.2516G>C (p.Gly839Ala)
c.2381G>C (p.Gly794Ala)
c.2513G>C (p.Gly838Ala)
n.329+3496C>G
6g.33443110G>TCA363625859SYNGAP1,SYNGAP1-AS1c.2300G>T (p.Gly767Val)
c.2558G>T (p.Gly853Val)
c.2516G>T (p.Gly839Val)
c.2381G>T (p.Gly794Val)
c.2513G>T (p.Gly838Val)
n.329+3496C>A
6g.33443111C>ACA450103722SYNGAP1,SYNGAP1-AS1c.2301C>A (p.Gly767=)
c.2559C>A (p.Gly853=)
c.2517C>A (p.Gly839=)
c.2382C>A (p.Gly794=)
c.2514C>A (p.Gly838=)
n.329+3495G>T
6g.33443111C=CA1620014496SYNGAP1,SYNGAP1-AS1c.2301C= (p.Gly767=)
c.2559C= (p.Gly853=)
c.2517C= (p.Gly839=)
c.2382C= (p.Gly794=)
c.2514C= (p.Gly838=)
n.329+3495G=
6g.33443111C>GCA450103723SYNGAP1,SYNGAP1-AS1c.2301C>G (p.Gly767=)
c.2559C>G (p.Gly853=)
c.2517C>G (p.Gly839=)
c.2382C>G (p.Gly794=)
c.2514C>G (p.Gly838=)
n.329+3495G>C
6g.33443111C>TCA450103724SYNGAP1,SYNGAP1-AS1c.2301C>T (p.Gly767=)
c.2559C>T (p.Gly853=)
c.2517C>T (p.Gly839=)
c.2382C>T (p.Gly794=)
c.2514C>T (p.Gly838=)
n.329+3495G>A
 dbSNP gnomAD v3 gnomAD v4
6g.33443112C>ACA363625865SYNGAP1,SYNGAP1-AS1c.2302C>A (p.Arg768Ser)
c.2560C>A (p.Arg854Ser)
c.2518C>A (p.Arg840Ser)
c.2383C>A (p.Arg795Ser)
c.2515C>A (p.Arg839Ser)
n.329+3494G>T
6g.33443112C=CA1620014498SYNGAP1,SYNGAP1-AS1c.2302C= (p.Arg768=)
c.2560C= (p.Arg854=)
c.2518C= (p.Arg840=)
c.2383C= (p.Arg795=)
c.2515C= (p.Arg839=)
n.329+3494G=
6g.33443112C>GCA363625867SYNGAP1,SYNGAP1-AS1c.2302C>G (p.Arg768Gly)
c.2560C>G (p.Arg854Gly)
c.2518C>G (p.Arg840Gly)
c.2383C>G (p.Arg795Gly)
c.2515C>G (p.Arg839Gly)
n.329+3494G>C
6g.33443112C>TCA363625863SYNGAP1,SYNGAP1-AS1c.2302C>T (p.Arg768Cys)
c.2560C>T (p.Arg854Cys)
c.2518C>T (p.Arg840Cys)
c.2383C>T (p.Arg795Cys)
c.2515C>T (p.Arg839Cys)
n.329+3494G>A
 ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
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

Number of alleles fetched