Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.33441621A=CA1620013882SYNGAP1,SYNGAP1-AS1c.1898A= (p.Asn633=)
c.2156A= (p.Asn719=)
c.*553A= (n.*553A=)
c.1979A= (p.Asn660=)
c.2111A= (p.Asn704=)
n.330-4140T=
6g.33441621A>CCA363623191SYNGAP1,SYNGAP1-AS1c.1898A>C (p.Asn633Thr)
c.2156A>C (p.Asn719Thr)
c.*553A>C (n.*553A>C)
c.1979A>C (p.Asn660Thr)
c.2111A>C (p.Asn704Thr)
n.330-4140T>G
6g.33441621A>GCA363623192SYNGAP1,SYNGAP1-AS1c.1898A>G (p.Asn633Ser)
c.2156A>G (p.Asn719Ser)
c.*553A>G (n.*553A>G)
c.1979A>G (p.Asn660Ser)
c.2111A>G (p.Asn704Ser)
n.330-4140T>C
 dbSNP gnomAD v3 gnomAD v4
6g.33441621A>TCA363623193SYNGAP1,SYNGAP1-AS1c.1898A>T (p.Asn633Ile)
c.2156A>T (p.Asn719Ile)
c.*553A>T (n.*553A>T)
c.1979A>T (p.Asn660Ile)
c.2111A>T (p.Asn704Ile)
n.330-4140T>A
6g.33441622C>ACA363623199SYNGAP1,SYNGAP1-AS1c.1899C>A (p.Asn633Lys)
c.2157C>A (p.Asn719Lys)
c.*554C>A (n.*554C>A)
c.1980C>A (p.Asn660Lys)
c.2112C>A (p.Asn704Lys)
n.330-4141G>T
6g.33441622C=CA1620013883SYNGAP1,SYNGAP1-AS1c.1899C= (p.Asn633=)
c.2157C= (p.Asn719=)
c.*554C= (n.*554C=)
c.1980C= (p.Asn660=)
c.2112C= (p.Asn704=)
n.330-4141G=
6g.33441622C>GCA363623202SYNGAP1,SYNGAP1-AS1c.1899C>G (p.Asn633Lys)
c.2157C>G (p.Asn719Lys)
c.*554C>G (n.*554C>G)
c.1980C>G (p.Asn660Lys)
c.2112C>G (p.Asn704Lys)
n.330-4141G>C
6g.33441622C>TCA3758806SYNGAP1,SYNGAP1-AS1c.1899C>T (p.Asn633=)
c.2157C>T (p.Asn719=)
c.*554C>T (n.*554C>T)
c.1980C>T (p.Asn660=)
c.2112C>T (p.Asn704=)
n.330-4141G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.33441623G>ACA363623222SYNGAP1,SYNGAP1-AS1c.1900G>A (p.Asp634Asn)
c.2158G>A (p.Asp720Asn)
c.*555G>A (n.*555G>A)
c.1981G>A (p.Asp661Asn)
c.2113G>A (p.Asp705Asn)
n.330-4142C>T
 ClinVar gnomAD v4
6g.33441623G>CCA363623226SYNGAP1,SYNGAP1-AS1c.1900G>C (p.Asp634His)
c.2158G>C (p.Asp720His)
c.*555G>C (n.*555G>C)
c.1981G>C (p.Asp661His)
c.2113G>C (p.Asp705His)
n.330-4142C>G
6g.33441623G>TCA363623225SYNGAP1,SYNGAP1-AS1c.1900G>T (p.Asp634Tyr)
c.2158G>T (p.Asp720Tyr)
c.*555G>T (n.*555G>T)
c.1981G>T (p.Asp661Tyr)
c.2113G>T (p.Asp705Tyr)
n.330-4142C>A
6g.33441624A>CCA363623231SYNGAP1,SYNGAP1-AS1c.1901A>C (p.Asp634Ala)
c.2159A>C (p.Asp720Ala)
c.*556A>C (n.*556A>C)
c.1982A>C (p.Asp661Ala)
c.2114A>C (p.Asp705Ala)
n.330-4143T>G
6g.33441624A>GCA363623238SYNGAP1,SYNGAP1-AS1c.1901A>G (p.Asp634Gly)
c.2159A>G (p.Asp720Gly)
c.*556A>G (n.*556A>G)
c.1982A>G (p.Asp661Gly)
c.2114A>G (p.Asp705Gly)
n.330-4143T>C
6g.33441624A>TCA363623240SYNGAP1,SYNGAP1-AS1c.1901A>T (p.Asp634Val)
c.2159A>T (p.Asp720Val)
c.*556A>T (n.*556A>T)
c.1982A>T (p.Asp661Val)
c.2114A>T (p.Asp705Val)
n.330-4143T>A
6g.33441625C>ACA363623251SYNGAP1,SYNGAP1-AS1c.1902C>A (p.Asp634Glu)
c.2160C>A (p.Asp720Glu)
c.*557C>A (n.*557C>A)
c.1983C>A (p.Asp661Glu)
c.2115C>A (p.Asp705Glu)
n.330-4144G>T
6g.33441625C>GCA363623257SYNGAP1,SYNGAP1-AS1c.1902C>G (p.Asp634Glu)
c.2160C>G (p.Asp720Glu)
c.*557C>G (n.*557C>G)
c.1983C>G (p.Asp661Glu)
c.2115C>G (p.Asp705Glu)
n.330-4144G>C
6g.33441625C>TCA450103579SYNGAP1,SYNGAP1-AS1c.1902C>T (p.Asp634=)
c.2160C>T (p.Asp720=)
c.*557C>T (n.*557C>T)
c.1983C>T (p.Asp661=)
c.2115C>T (p.Asp705=)
n.330-4144G>A
 ClinVar
6g.33441626A>CCA363623264SYNGAP1,SYNGAP1-AS1c.1903A>C (p.Ile635Leu)
c.2161A>C (p.Ile721Leu)
c.*558A>C (n.*558A>C)
c.1984A>C (p.Ile662Leu)
c.2116A>C (p.Ile706Leu)
n.330-4145T>G
6g.33441626A>GCA363623268SYNGAP1,SYNGAP1-AS1c.1903A>G (p.Ile635Val)
c.2161A>G (p.Ile721Val)
c.*558A>G (n.*558A>G)
c.1984A>G (p.Ile662Val)
c.2116A>G (p.Ile706Val)
n.330-4145T>C
6g.33441626A>TCA363623262SYNGAP1,SYNGAP1-AS1c.1903A>T (p.Ile635Phe)
c.2161A>T (p.Ile721Phe)
c.*558A>T (n.*558A>T)
c.1984A>T (p.Ile662Phe)
c.2116A>T (p.Ile706Phe)
n.330-4145T>A
6g.33441627T>ACA363623281SYNGAP1,SYNGAP1-AS1c.1904T>A (p.Ile635Asn)
c.2162T>A (p.Ile721Asn)
c.*559T>A (n.*559T>A)
c.1985T>A (p.Ile662Asn)
c.2117T>A (p.Ile706Asn)
n.330-4146A>T
6g.33441627T>CCA363623278SYNGAP1,SYNGAP1-AS1c.1904T>C (p.Ile635Thr)
c.2162T>C (p.Ile721Thr)
c.*559T>C (n.*559T>C)
c.1985T>C (p.Ile662Thr)
c.2117T>C (p.Ile706Thr)
n.330-4146A>G
6g.33441627T>GCA363623287SYNGAP1,SYNGAP1-AS1c.1904T>G (p.Ile635Ser)
c.2162T>G (p.Ile721Ser)
c.*559T>G (n.*559T>G)
c.1985T>G (p.Ile662Ser)
c.2117T>G (p.Ile706Ser)
n.330-4146A>C
 ClinVar dbSNP
6g.33441627T=CA1620013884SYNGAP1,SYNGAP1-AS1c.1904T= (p.Ile635=)
c.2162T= (p.Ile721=)
c.*559T= (n.*559T=)
c.1985T= (p.Ile662=)
c.2117T= (p.Ile706=)
n.330-4146A=
6g.33441628C>ACA450103582SYNGAP1,SYNGAP1-AS1c.1905C>A (p.Ile635=)
c.2163C>A (p.Ile721=)
c.*560C>A (n.*560C>A)
c.1986C>A (p.Ile662=)
c.2118C>A (p.Ile706=)
n.330-4147G>T
6g.33441628C>GCA363623289SYNGAP1,SYNGAP1-AS1c.1905C>G (p.Ile635Met)
c.2163C>G (p.Ile721Met)
c.*560C>G (n.*560C>G)
c.1986C>G (p.Ile662Met)
c.2118C>G (p.Ile706Met)
n.330-4147G>C
6g.33441628C>TCA450103581SYNGAP1,SYNGAP1-AS1c.1905C>T (p.Ile635=)
c.2163C>T (p.Ile721=)
c.*560C>T (n.*560C>T)
c.1986C>T (p.Ile662=)
c.2118C>T (p.Ile706=)
n.330-4147G>A
6g.33441629A=CA1620013885SYNGAP1,SYNGAP1-AS1c.1906A= (p.Ser636=)
c.2164A= (p.Ser722=)
c.*561A= (n.*561A=)
c.1987A= (p.Ser663=)
c.2119A= (p.Ser707=)
n.330-4148T=
6g.33441629A>CCA363623303SYNGAP1,SYNGAP1-AS1c.1906A>C (p.Ser636Arg)
c.2164A>C (p.Ser722Arg)
c.*561A>C (n.*561A>C)
c.1987A>C (p.Ser663Arg)
c.2119A>C (p.Ser707Arg)
n.330-4148T>G
6g.33441629A>GCA363623292SYNGAP1,SYNGAP1-AS1c.1906A>G (p.Ser636Gly)
c.2164A>G (p.Ser722Gly)
c.*561A>G (n.*561A>G)
c.1987A>G (p.Ser663Gly)
c.2119A>G (p.Ser707Gly)
n.330-4148T>C
 dbSNP gnomAD v2 gnomAD v4
6g.33441629A>TCA363623294SYNGAP1,SYNGAP1-AS1c.1906A>T (p.Ser636Cys)
c.2164A>T (p.Ser722Cys)
c.*561A>T (n.*561A>T)
c.1987A>T (p.Ser663Cys)
c.2119A>T (p.Ser707Cys)
n.330-4148T>A
6g.33441630G>ACA363623306SYNGAP1,SYNGAP1-AS1c.1907G>A (p.Ser636Asn)
c.2165G>A (p.Ser722Asn)
c.*562G>A (n.*562G>A)
c.1988G>A (p.Ser663Asn)
c.2120G>A (p.Ser707Asn)
n.330-4149C>T
6g.33441630G>CCA363623307SYNGAP1,SYNGAP1-AS1c.1907G>C (p.Ser636Thr)
c.2165G>C (p.Ser722Thr)
c.*562G>C (n.*562G>C)
c.1988G>C (p.Ser663Thr)
c.2120G>C (p.Ser707Thr)
n.330-4149C>G
 gnomAD v4
6g.33441630G>TCA363623308SYNGAP1,SYNGAP1-AS1c.1907G>T (p.Ser636Ile)
c.2165G>T (p.Ser722Ile)
c.*562G>T (n.*562G>T)
c.1988G>T (p.Ser663Ile)
c.2120G>T (p.Ser707Ile)
n.330-4149C>A
6g.33441631C>ACA363623309SYNGAP1,SYNGAP1-AS1c.1908C>A (p.Ser636Arg)
c.2166C>A (p.Ser722Arg)
c.*563C>A (n.*563C>A)
c.1989C>A (p.Ser663Arg)
c.2121C>A (p.Ser707Arg)
n.330-4150G>T
6g.33441631C>GCA363623312SYNGAP1,SYNGAP1-AS1c.1908C>G (p.Ser636Arg)
c.2166C>G (p.Ser722Arg)
c.*563C>G (n.*563C>G)
c.1989C>G (p.Ser663Arg)
c.2121C>G (p.Ser707Arg)
n.330-4150G>C
6g.33441631C>TCA450103584SYNGAP1,SYNGAP1-AS1c.1908C>T (p.Ser636=)
c.2166C>T (p.Ser722=)
c.*563C>T (n.*563C>T)
c.1989C>T (p.Ser663=)
c.2121C>T (p.Ser707=)
n.330-4150G>A
6g.33441632A>CCA363623322SYNGAP1,SYNGAP1-AS1c.1909A>C (p.Thr637Pro)
c.2167A>C (p.Thr723Pro)
c.*564A>C (n.*564A>C)
c.1990A>C (p.Thr664Pro)
c.2122A>C (p.Thr708Pro)
n.330-4151T>G
6g.33441632A>GCA363623327SYNGAP1,SYNGAP1-AS1c.1909A>G (p.Thr637Ala)
c.2167A>G (p.Thr723Ala)
c.*564A>G (n.*564A>G)
c.1990A>G (p.Thr664Ala)
c.2122A>G (p.Thr708Ala)
n.330-4151T>C
6g.33441632A>TCA363623334SYNGAP1,SYNGAP1-AS1c.1909A>T (p.Thr637Ser)
c.2167A>T (p.Thr723Ser)
c.*564A>T (n.*564A>T)
c.1990A>T (p.Thr664Ser)
c.2122A>T (p.Thr708Ser)
n.330-4151T>A
6g.33441633C>ACA363623355SYNGAP1,SYNGAP1-AS1c.1910C>A (p.Thr637Lys)
c.2168C>A (p.Thr723Lys)
c.*565C>A (n.*565C>A)
c.1991C>A (p.Thr664Lys)
c.2123C>A (p.Thr708Lys)
n.330-4152G>T
6g.33441633C=CA1620013886SYNGAP1,SYNGAP1-AS1c.1910C= (p.Thr637=)
c.2168C= (p.Thr723=)
c.*565C= (n.*565C=)
c.1991C= (p.Thr664=)
c.2123C= (p.Thr708=)
n.330-4152G=
6g.33441633C>GCA363623358SYNGAP1,SYNGAP1-AS1c.1910C>G (p.Thr637Arg)
c.2168C>G (p.Thr723Arg)
c.*565C>G (n.*565C>G)
c.1991C>G (p.Thr664Arg)
c.2123C>G (p.Thr708Arg)
n.330-4152G>C
6g.33441633C>TCA3758807SYNGAP1,SYNGAP1-AS1c.1910C>T (p.Thr637Ile)
c.2168C>T (p.Thr723Ile)
c.*565C>T (n.*565C>T)
c.1991C>T (p.Thr664Ile)
c.2123C>T (p.Thr708Ile)
n.330-4152G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6g.33441634A=CA1620013887SYNGAP1,SYNGAP1-AS1c.1911A= (p.Thr637=)
c.2169A= (p.Thr723=)
c.*566A= (n.*566A=)
c.1992A= (p.Thr664=)
c.2124A= (p.Thr708=)
n.330-4153T=
6g.33441634A>CCA450103587SYNGAP1,SYNGAP1-AS1c.1911A>C (p.Thr637=)
c.2169A>C (p.Thr723=)
c.*566A>C (n.*566A>C)
c.1992A>C (p.Thr664=)
c.2124A>C (p.Thr708=)
n.330-4153T>G
6g.33441634A>GCA450103585SYNGAP1,SYNGAP1-AS1c.1911A>G (p.Thr637=)
c.2169A>G (p.Thr723=)
c.*566A>G (n.*566A>G)
c.1992A>G (p.Thr664=)
c.2124A>G (p.Thr708=)
n.330-4153T>C
 dbSNP gnomAD v3 gnomAD v4
6g.33441634A>TCA450103586SYNGAP1,SYNGAP1-AS1c.1911A>T (p.Thr637=)
c.2169A>T (p.Thr723=)
c.*566A>T (n.*566A>T)
c.1992A>T (p.Thr664=)
c.2124A>T (p.Thr708=)
n.330-4153T>A
6g.33441635G>ACA363623364SYNGAP1,SYNGAP1-AS1c.1912G>A (p.Ala638Thr)
c.2170G>A (p.Ala724Thr)
c.*567G>A (n.*567G>A)
c.1993G>A (p.Ala665Thr)
c.2125G>A (p.Ala709Thr)
n.330-4154C>T
6g.33441635G>CCA363623369SYNGAP1,SYNGAP1-AS1c.1912G>C (p.Ala638Pro)
c.2170G>C (p.Ala724Pro)
c.*567G>C (n.*567G>C)
c.1993G>C (p.Ala665Pro)
c.2125G>C (p.Ala709Pro)
n.330-4154C>G
6g.33441635G>TCA363623367SYNGAP1,SYNGAP1-AS1c.1912G>T (p.Ala638Ser)
c.2170G>T (p.Ala724Ser)
c.*567G>T (n.*567G>T)
c.1993G>T (p.Ala665Ser)
c.2125G>T (p.Ala709Ser)
n.330-4154C>A
6g.33441636C>ACA363623374SYNGAP1,SYNGAP1-AS1c.1913C>A (p.Ala638Asp)
c.2171C>A (p.Ala724Asp)
c.*568C>A (n.*568C>A)
c.1994C>A (p.Ala665Asp)
c.2126C>A (p.Ala709Asp)
n.330-4155G>T
6g.33441636C>GCA363623385SYNGAP1,SYNGAP1-AS1c.1913C>G (p.Ala638Gly)
c.2171C>G (p.Ala724Gly)
c.*568C>G (n.*568C>G)
c.1994C>G (p.Ala665Gly)
c.2126C>G (p.Ala709Gly)
n.330-4155G>C
6g.33441636C>TCA363623387SYNGAP1,SYNGAP1-AS1c.1913C>T (p.Ala638Val)
c.2171C>T (p.Ala724Val)
c.*568C>T (n.*568C>T)
c.1994C>T (p.Ala665Val)
c.2126C>T (p.Ala709Val)
n.330-4155G>A
6g.33441637T>ACA450103588SYNGAP1,SYNGAP1-AS1c.1914T>A (p.Ala638=)
c.2172T>A (p.Ala724=)
c.*569T>A (n.*569T>A)
c.1995T>A (p.Ala665=)
c.2127T>A (p.Ala709=)
n.330-4156A>T
 gnomAD v4
6g.33441637T>CCA450103590SYNGAP1,SYNGAP1-AS1c.1914T>C (p.Ala638=)
c.2172T>C (p.Ala724=)
c.*569T>C (n.*569T>C)
c.1995T>C (p.Ala665=)
c.2127T>C (p.Ala709=)
n.330-4156A>G
6g.33441637T>GCA450103591SYNGAP1,SYNGAP1-AS1c.1914T>G (p.Ala638=)
c.2172T>G (p.Ala724=)
c.*569T>G (n.*569T>G)
c.1995T>G (p.Ala665=)
c.2127T>G (p.Ala709=)
n.330-4156A>C
6g.33441638C>ACA363623391SYNGAP1,SYNGAP1-AS1c.1915C>A (p.Leu639Met)
c.2173C>A (p.Leu725Met)
c.*570C>A (n.*570C>A)
c.1996C>A (p.Leu666Met)
c.2128C>A (p.Leu710Met)
n.330-4157G>T
6g.33441638C>GCA363623394SYNGAP1,SYNGAP1-AS1c.1915C>G (p.Leu639Val)
c.2173C>G (p.Leu725Val)
c.*570C>G (n.*570C>G)
c.1996C>G (p.Leu666Val)
c.2128C>G (p.Leu710Val)
n.330-4157G>C
6g.33441638C>TCA450103592SYNGAP1,SYNGAP1-AS1c.1915C>T (p.Leu639=)
c.2173C>T (p.Leu725=)
c.*570C>T (n.*570C>T)
c.1996C>T (p.Leu666=)
c.2128C>T (p.Leu710=)
n.330-4157G>A
6g.33441639T>ACA363623403SYNGAP1,SYNGAP1-AS1c.1916T>A (p.Leu639Gln)
c.2174T>A (p.Leu725Gln)
c.*571T>A (n.*571T>A)
c.1997T>A (p.Leu666Gln)
c.2129T>A (p.Leu710Gln)
n.330-4158A>T
6g.33441639T>CCA363623408SYNGAP1,SYNGAP1-AS1c.1916T>C (p.Leu639Pro)
c.2174T>C (p.Leu725Pro)
c.*571T>C (n.*571T>C)
c.1997T>C (p.Leu666Pro)
c.2129T>C (p.Leu710Pro)
n.330-4158A>G
6g.33441639T>GCA363623410SYNGAP1,SYNGAP1-AS1c.1916T>G (p.Leu639Arg)
c.2174T>G (p.Leu725Arg)
c.*571T>G (n.*571T>G)
c.1997T>G (p.Leu666Arg)
c.2129T>G (p.Leu710Arg)
n.330-4158A>C
6g.33441640G>ACA450103593SYNGAP1,SYNGAP1-AS1c.1917G>A (p.Leu639=)
c.2175G>A (p.Leu725=)
c.*572G>A (n.*572G>A)
c.1998G>A (p.Leu666=)
c.2130G>A (p.Leu710=)
n.330-4159C>T
 gnomAD v4
6g.33441640G>CCA450103594SYNGAP1,SYNGAP1-AS1c.1917G>C (p.Leu639=)
c.2175G>C (p.Leu725=)
c.*572G>C (n.*572G>C)
c.1998G>C (p.Leu666=)
c.2130G>C (p.Leu710=)
n.330-4159C>G
6g.33441640G>TCA450103595SYNGAP1,SYNGAP1-AS1c.1917G>T (p.Leu639=)
c.2175G>T (p.Leu725=)
c.*572G>T (n.*572G>T)
c.1998G>T (p.Leu666=)
c.2130G>T (p.Leu710=)
n.330-4159C>A
6g.33441641A>CCA450103596SYNGAP1,SYNGAP1-AS1c.1918A>C (p.Arg640=)
c.2176A>C (p.Arg726=)
c.*573A>C (n.*573A>C)
c.1999A>C (p.Arg667=)
c.2131A>C (p.Arg711=)
n.330-4160T>G
6g.33441641A>GCA363623414SYNGAP1,SYNGAP1-AS1c.1918A>G (p.Arg640Gly)
c.2176A>G (p.Arg726Gly)
c.*573A>G (n.*573A>G)
c.1999A>G (p.Arg667Gly)
c.2131A>G (p.Arg711Gly)
n.330-4160T>C
6g.33441641A>TCA363623417SYNGAP1,SYNGAP1-AS1c.1918A>T (p.Arg640Trp)
c.2176A>T (p.Arg726Trp)
c.*573A>T (n.*573A>T)
c.1999A>T (p.Arg667Trp)
c.2131A>T (p.Arg711Trp)
n.330-4160T>A
6g.33441642_33441645delCA2695202909SYNGAP1,SYNGAP1-AS1c.1919_1922del (p.Arg640ThrfsTer?)
c.2177_2180del (p.Arg726ThrfsTer?)
c.*574_*577del (n.*574_*577del)
c.2000_2003del (p.Arg667ThrfsTer?)
c.2132_2135del (p.Arg711ThrfsTer?)
n.330-4163_330-4160del
6g.33441642G>ACA363623424SYNGAP1,SYNGAP1-AS1c.1919G>A (p.Arg640Lys)
c.2177G>A (p.Arg726Lys)
c.*574G>A (n.*574G>A)
c.2000G>A (p.Arg667Lys)
c.2132G>A (p.Arg711Lys)
n.330-4161C>T
6g.33441642G>CCA363623429SYNGAP1,SYNGAP1-AS1c.1919G>C (p.Arg640Thr)
c.2177G>C (p.Arg726Thr)
c.*574G>C (n.*574G>C)
c.2000G>C (p.Arg667Thr)
c.2132G>C (p.Arg711Thr)
n.330-4161C>G
6g.33441642G>TCA363623421SYNGAP1,SYNGAP1-AS1c.1919G>T (p.Arg640Met)
c.2177G>T (p.Arg726Met)
c.*574G>T (n.*574G>T)
c.2000G>T (p.Arg667Met)
c.2132G>T (p.Arg711Met)
n.330-4161C>A
6g.33441643G>ACA450103597SYNGAP1,SYNGAP1-AS1c.1920G>A (p.Arg640=)
c.2178G>A (p.Arg726=)
c.*575G>A (n.*575G>A)
c.2001G>A (p.Arg667=)
c.2133G>A (p.Arg711=)
n.330-4162C>T
6g.33441643G>CCA363623432SYNGAP1,SYNGAP1-AS1c.1920G>C (p.Arg640Ser)
c.2178G>C (p.Arg726Ser)
c.*575G>C (n.*575G>C)
c.2001G>C (p.Arg667Ser)
c.2133G>C (p.Arg711Ser)
n.330-4162C>G
6g.33441643G>TCA363623438SYNGAP1,SYNGAP1-AS1c.1920G>T (p.Arg640Ser)
c.2178G>T (p.Arg726Ser)
c.*575G>T (n.*575G>T)
c.2001G>T (p.Arg667Ser)
c.2133G>T (p.Arg711Ser)
n.330-4162C>A
6g.33441643_33441644delinsTTCA2580074412SYNGAP1,SYNGAP1-AS1c.1920_1921delinsTT (p.Arg640_Asn641delinsSerTyr)
c.2178_2179delinsTT (p.Arg726_Asn727delinsSerTyr)
c.*575_*576delinsTT (n.*575_*576delinsTT)
c.2001_2002delinsTT (p.Arg667_Asn668delinsSerTyr)
c.2133_2134delinsTT (p.Arg711_Asn712delinsSerTyr)
n.330-4163_330-4162delinsAA
 ClinVar
6g.33441644A>CCA363623442SYNGAP1,SYNGAP1-AS1c.1921A>C (p.Asn641His)
c.2179A>C (p.Asn727His)
c.*576A>C (n.*576A>C)
c.2002A>C (p.Asn668His)
c.2134A>C (p.Asn712His)
n.330-4163T>G
6g.33441644A>GCA363623446SYNGAP1,SYNGAP1-AS1c.1921A>G (p.Asn641Asp)
c.2179A>G (p.Asn727Asp)
c.*576A>G (n.*576A>G)
c.2002A>G (p.Asn668Asp)
c.2134A>G (p.Asn712Asp)
n.330-4163T>C
6g.33441644A>TCA363623448SYNGAP1,SYNGAP1-AS1c.1921A>T (p.Asn641Tyr)
c.2179A>T (p.Asn727Tyr)
c.*576A>T (n.*576A>T)
c.2002A>T (p.Asn668Tyr)
c.2134A>T (p.Asn712Tyr)
n.330-4163T>A
6g.33441645A>CCA363623451SYNGAP1,SYNGAP1-AS1c.1922A>C (p.Asn641Thr)
c.2180A>C (p.Asn727Thr)
c.*577A>C (n.*577A>C)
c.2003A>C (p.Asn668Thr)
c.2135A>C (p.Asn712Thr)
n.330-4164T>G
6g.33441645A>GCA363623452SYNGAP1,SYNGAP1-AS1c.1922A>G (p.Asn641Ser)
c.2180A>G (p.Asn727Ser)
c.*577A>G (n.*577A>G)
c.2003A>G (p.Asn668Ser)
c.2135A>G (p.Asn712Ser)
n.330-4164T>C
6g.33441645A>TCA363623453SYNGAP1,SYNGAP1-AS1c.1922A>T (p.Asn641Ile)
c.2180A>T (p.Asn727Ile)
c.*577A>T (n.*577A>T)
c.2003A>T (p.Asn668Ile)
c.2135A>T (p.Asn712Ile)
n.330-4164T>A
6g.33441646C>ACA363623455SYNGAP1,SYNGAP1-AS1c.1923C>A (p.Asn641Lys)
c.2181C>A (p.Asn727Lys)
c.*578C>A (n.*578C>A)
c.2004C>A (p.Asn668Lys)
c.2136C>A (p.Asn712Lys)
n.330-4165G>T
 gnomAD v4
6g.33441646C>GCA363623456SYNGAP1,SYNGAP1-AS1c.1923C>G (p.Asn641Lys)
c.2181C>G (p.Asn727Lys)
c.*578C>G (n.*578C>G)
c.2004C>G (p.Asn668Lys)
c.2136C>G (p.Asn712Lys)
n.330-4165G>C
6g.33441646C>TCA450103598SYNGAP1,SYNGAP1-AS1c.1923C>T (p.Asn641=)
c.2181C>T (p.Asn727=)
c.*578C>T (n.*578C>T)
c.2004C>T (p.Asn668=)
c.2136C>T (p.Asn712=)
n.330-4165G>A
6g.33441649delCA2695202910SYNGAP1,SYNGAP1-AS1c.1926del (p.Asn643ThrfsTer?)
c.2184del (p.Asn729ThrfsTer?)
c.*581del (n.*581del)
c.2007del (p.Asn670ThrfsTer?)
c.2139del (p.Asn714ThrfsTer?)
n.330-4165del
6g.33441647C>ACA363623459SYNGAP1,SYNGAP1-AS1c.1924C>A (p.Pro642Thr)
c.2182C>A (p.Pro728Thr)
c.*579C>A (n.*579C>A)
c.2005C>A (p.Pro669Thr)
c.2137C>A (p.Pro713Thr)
n.330-4166G>T
6g.33441647C>GCA363623461SYNGAP1,SYNGAP1-AS1c.1924C>G (p.Pro642Ala)
c.2182C>G (p.Pro728Ala)
c.*579C>G (n.*579C>G)
c.2005C>G (p.Pro669Ala)
c.2137C>G (p.Pro713Ala)
n.330-4166G>C
6g.33441647C>TCA363623463SYNGAP1,SYNGAP1-AS1c.1924C>T (p.Pro642Ser)
c.2182C>T (p.Pro728Ser)
c.*579C>T (n.*579C>T)
c.2005C>T (p.Pro669Ser)
c.2137C>T (p.Pro713Ser)
n.330-4166G>A
 gnomAD v4
6g.33441648C>ACA363623477SYNGAP1,SYNGAP1-AS1c.1925C>A (p.Pro642His)
c.2183C>A (p.Pro728His)
c.*580C>A (n.*580C>A)
c.2006C>A (p.Pro669His)
c.2138C>A (p.Pro713His)
n.330-4167G>T
6g.33441648C>GCA363623474SYNGAP1,SYNGAP1-AS1c.1925C>G (p.Pro642Arg)
c.2183C>G (p.Pro728Arg)
c.*580C>G (n.*580C>G)
c.2006C>G (p.Pro669Arg)
c.2138C>G (p.Pro713Arg)
n.330-4167G>C
6g.33441648C>TCA363623469SYNGAP1,SYNGAP1-AS1c.1925C>T (p.Pro642Leu)
c.2183C>T (p.Pro728Leu)
c.*580C>T (n.*580C>T)
c.2006C>T (p.Pro669Leu)
c.2138C>T (p.Pro713Leu)
n.330-4167G>A
6g.33441649C>ACA450103599SYNGAP1,SYNGAP1-AS1c.1926C>A (p.Pro642=)
c.2184C>A (p.Pro728=)
c.*581C>A (n.*581C>A)
c.2007C>A (p.Pro669=)
c.2139C>A (p.Pro713=)
n.330-4168G>T
 ClinVar
6g.33441649C=CA1620013888SYNGAP1,SYNGAP1-AS1c.1926C= (p.Pro642=)
c.2184C= (p.Pro728=)
c.*581C= (n.*581C=)
c.2007C= (p.Pro669=)
c.2139C= (p.Pro713=)
n.330-4168G=
6g.33441649C>GCA450103600SYNGAP1,SYNGAP1-AS1c.1926C>G (p.Pro642=)
c.2184C>G (p.Pro728=)
c.*581C>G (n.*581C>G)
c.2007C>G (p.Pro669=)
c.2139C>G (p.Pro713=)
n.330-4168G>C
6g.33441649C>TCA3758808SYNGAP1,SYNGAP1-AS1c.1926C>T (p.Pro642=)
c.2184C>T (p.Pro728=)
c.*581C>T (n.*581C>T)
c.2007C>T (p.Pro669=)
c.2139C>T (p.Pro713=)
n.330-4168G>A
 dbSNP ExAC gnomAD v2
6g.33441650A>CCA363623490SYNGAP1,SYNGAP1-AS1c.1927A>C (p.Asn643His)
c.2185A>C (p.Asn729His)
c.*582A>C (n.*582A>C)
c.2008A>C (p.Asn670His)
c.2140A>C (p.Asn714His)
n.330-4169T>G
6g.33441650A>GCA363623491SYNGAP1,SYNGAP1-AS1c.1927A>G (p.Asn643Asp)
c.2185A>G (p.Asn729Asp)
c.*582A>G (n.*582A>G)
c.2008A>G (p.Asn670Asp)
c.2140A>G (p.Asn714Asp)
n.330-4169T>C
6g.33441650A>TCA363623492SYNGAP1,SYNGAP1-AS1c.1927A>T (p.Asn643Tyr)
c.2185A>T (p.Asn729Tyr)
c.*582A>T (n.*582A>T)
c.2008A>T (p.Asn670Tyr)
c.2140A>T (p.Asn714Tyr)
n.330-4169T>A
6g.33441651A=CA1620013889SYNGAP1,SYNGAP1-AS1c.1928A= (p.Asn643=)
c.2186A= (p.Asn729=)
c.*583A= (n.*583A=)
c.2009A= (p.Asn670=)
c.2141A= (p.Asn714=)
n.330-4170T=
6g.33441651A>CCA137071630SYNGAP1,SYNGAP1-AS1c.1928A>C (p.Asn643Thr)
c.2186A>C (p.Asn729Thr)
c.*583A>C (n.*583A>C)
c.2009A>C (p.Asn670Thr)
c.2141A>C (p.Asn714Thr)
n.330-4170T>G
 dbSNP gnomAD v4
6g.33441651A>GCA363623493SYNGAP1,SYNGAP1-AS1c.1928A>G (p.Asn643Ser)
c.2186A>G (p.Asn729Ser)
c.*583A>G (n.*583A>G)
c.2009A>G (p.Asn670Ser)
c.2141A>G (p.Asn714Ser)
n.330-4170T>C
 ClinVar
6g.33441651A>TCA3758809SYNGAP1,SYNGAP1-AS1c.1928A>T (p.Asn643Ile)
c.2186A>T (p.Asn729Ile)
c.*583A>T (n.*583A>T)
c.2009A>T (p.Asn670Ile)
c.2141A>T (p.Asn714Ile)
n.330-4170T>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.33441652C>ACA363623498SYNGAP1,SYNGAP1-AS1c.1929C>A (p.Asn643Lys)
c.2187C>A (p.Asn729Lys)
c.*584C>A (n.*584C>A)
c.2010C>A (p.Asn670Lys)
c.2142C>A (p.Asn714Lys)
n.330-4171G>T
6g.33441652C>GCA363623502SYNGAP1,SYNGAP1-AS1c.1929C>G (p.Asn643Lys)
c.2187C>G (p.Asn729Lys)
c.*584C>G (n.*584C>G)
c.2010C>G (p.Asn670Lys)
c.2142C>G (p.Asn714Lys)
n.330-4171G>C
6g.33441652C>TCA450103601SYNGAP1,SYNGAP1-AS1c.1929C>T (p.Asn643=)
c.2187C>T (p.Asn729=)
c.*584C>T (n.*584C>T)
c.2010C>T (p.Asn670=)
c.2142C>T (p.Asn714=)
n.330-4171G>A
 gnomAD v4
6g.33441653A>CCA363623506SYNGAP1,SYNGAP1-AS1c.1930A>C (p.Ile644Leu)
c.2188A>C (p.Ile730Leu)
c.*585A>C (n.*585A>C)
c.2011A>C (p.Ile671Leu)
c.2143A>C (p.Ile715Leu)
n.330-4172T>G
6g.33441653A>GCA363623509SYNGAP1,SYNGAP1-AS1c.1930A>G (p.Ile644Val)
c.2188A>G (p.Ile730Val)
c.*585A>G (n.*585A>G)
c.2011A>G (p.Ile671Val)
c.2143A>G (p.Ile715Val)
n.330-4172T>C
6g.33441653A>TCA363623515SYNGAP1,SYNGAP1-AS1c.1930A>T (p.Ile644Phe)
c.2188A>T (p.Ile730Phe)
c.*585A>T (n.*585A>T)
c.2011A>T (p.Ile671Phe)
c.2143A>T (p.Ile715Phe)
n.330-4172T>A
6g.33441654T>ACA363623525SYNGAP1,SYNGAP1-AS1c.1931T>A (p.Ile644Asn)
c.2189T>A (p.Ile730Asn)
c.*586T>A (n.*586T>A)
c.2012T>A (p.Ile671Asn)
c.2144T>A (p.Ile715Asn)
n.330-4173A>T
6g.33441654T>CCA363623524SYNGAP1,SYNGAP1-AS1c.1931T>C (p.Ile644Thr)
c.2189T>C (p.Ile730Thr)
c.*586T>C (n.*586T>C)
c.2012T>C (p.Ile671Thr)
c.2144T>C (p.Ile715Thr)
n.330-4173A>G
6g.33441654T>GCA363623518SYNGAP1,SYNGAP1-AS1c.1931T>G (p.Ile644Ser)
c.2189T>G (p.Ile730Ser)
c.*586T>G (n.*586T>G)
c.2012T>G (p.Ile671Ser)
c.2144T>G (p.Ile715Ser)
n.330-4173A>C
6g.33441655C>ACA450103602SYNGAP1,SYNGAP1-AS1c.1932C>A (p.Ile644=)
c.2190C>A (p.Ile730=)
c.*587C>A (n.*587C>A)
c.2013C>A (p.Ile671=)
c.2145C>A (p.Ile715=)
n.330-4174G>T
6g.33441655C>GCA363623528SYNGAP1,SYNGAP1-AS1c.1932C>G (p.Ile644Met)
c.2190C>G (p.Ile730Met)
c.*587C>G (n.*587C>G)
c.2013C>G (p.Ile671Met)
c.2145C>G (p.Ile715Met)
n.330-4174G>C
6g.33441655C>TCA450103603SYNGAP1,SYNGAP1-AS1c.1932C>T (p.Ile644=)
c.2190C>T (p.Ile730=)
c.*587C>T (n.*587C>T)
c.2013C>T (p.Ile671=)
c.2145C>T (p.Ile715=)
n.330-4174G>A
6g.33441656C>ACA363623533SYNGAP1,SYNGAP1-AS1c.1933C>A (p.Gln645Lys)
c.2191C>A (p.Gln731Lys)
c.*588C>A (n.*588C>A)
c.2014C>A (p.Gln672Lys)
c.2146C>A (p.Gln716Lys)
n.330-4175G>T
6g.33441656C=CA1620013890SYNGAP1,SYNGAP1-AS1c.1933C= (p.Gln645=)
c.2191C= (p.Gln731=)
c.*588C= (n.*588C=)
c.2014C= (p.Gln672=)
c.2146C= (p.Gln716=)
n.330-4175G=
6g.33441656C>GCA363623535SYNGAP1,SYNGAP1-AS1c.1933C>G (p.Gln645Glu)
c.2191C>G (p.Gln731Glu)
c.*588C>G (n.*588C>G)
c.2014C>G (p.Gln672Glu)
c.2146C>G (p.Gln716Glu)
n.330-4175G>C
6g.33441656C>TCA363623546SYNGAP1,SYNGAP1-AS1c.1933C>T (p.Gln645Ter)
c.2191C>T (p.Gln731Ter)
c.*588C>T (n.*588C>T)
c.2014C>T (p.Gln672Ter)
c.2146C>T (p.Gln716Ter)
n.330-4175G>A
 dbSNP
6g.33441657A>CCA363623551SYNGAP1,SYNGAP1-AS1c.1934A>C (p.Gln645Pro)
c.2192A>C (p.Gln731Pro)
c.*589A>C (n.*589A>C)
c.2015A>C (p.Gln672Pro)
c.2147A>C (p.Gln716Pro)
n.330-4176T>G
6g.33441657A>GCA363623553SYNGAP1,SYNGAP1-AS1c.1934A>G (p.Gln645Arg)
c.2192A>G (p.Gln731Arg)
c.*589A>G (n.*589A>G)
c.2015A>G (p.Gln672Arg)
c.2147A>G (p.Gln716Arg)
n.330-4176T>C
6g.33441657A>TCA363623557SYNGAP1,SYNGAP1-AS1c.1934A>T (p.Gln645Leu)
c.2192A>T (p.Gln731Leu)
c.*589A>T (n.*589A>T)
c.2015A>T (p.Gln672Leu)
c.2147A>T (p.Gln716Leu)
n.330-4176T>A
6g.33441658A>CCA363623564SYNGAP1,SYNGAP1-AS1c.1935A>C (p.Gln645His)
c.2193A>C (p.Gln731His)
c.*590A>C (n.*590A>C)
c.2016A>C (p.Gln672His)
c.2148A>C (p.Gln716His)
n.330-4177T>G
6g.33441658A>GCA450103604SYNGAP1,SYNGAP1-AS1c.1935A>G (p.Gln645=)
c.2193A>G (p.Gln731=)
c.*590A>G (n.*590A>G)
c.2016A>G (p.Gln672=)
c.2148A>G (p.Gln716=)
n.330-4177T>C
6g.33441658A>TCA363623566SYNGAP1,SYNGAP1-AS1c.1935A>T (p.Gln645His)
c.2193A>T (p.Gln731His)
c.*590A>T (n.*590A>T)
c.2016A>T (p.Gln672His)
c.2148A>T (p.Gln716His)
n.330-4177T>A
6g.33441659A>CCA450103605SYNGAP1,SYNGAP1-AS1c.1936A>C (p.Arg646=)
c.2194A>C (p.Arg732=)
c.*591A>C (n.*591A>C)
c.2017A>C (p.Arg673=)
c.2149A>C (p.Arg717=)
n.330-4178T>G
6g.33441659A>GCA363623571SYNGAP1,SYNGAP1-AS1c.1936A>G (p.Arg646Gly)
c.2194A>G (p.Arg732Gly)
c.*591A>G (n.*591A>G)
c.2017A>G (p.Arg673Gly)
c.2149A>G (p.Arg717Gly)
n.330-4178T>C
 gnomAD v4
6g.33441659A>TCA363623574SYNGAP1,SYNGAP1-AS1c.1936A>T (p.Arg646Trp)
c.2194A>T (p.Arg732Trp)
c.*591A>T (n.*591A>T)
c.2017A>T (p.Arg673Trp)
c.2149A>T (p.Arg717Trp)
n.330-4178T>A
6g.33441660G>ACA137071631SYNGAP1,SYNGAP1-AS1c.1937G>A (p.Arg646Lys)
c.2195G>A (p.Arg732Lys)
c.*592G>A (n.*592G>A)
c.2018G>A (p.Arg673Lys)
c.2150G>A (p.Arg717Lys)
n.330-4179C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
6g.33441660G>CCA363623577SYNGAP1,SYNGAP1-AS1c.1937G>C (p.Arg646Thr)
c.2195G>C (p.Arg732Thr)
c.*592G>C (n.*592G>C)
c.2018G>C (p.Arg673Thr)
c.2150G>C (p.Arg717Thr)
n.330-4179C>G
 ClinVar dbSNP
6g.33441660G=CA1620013891SYNGAP1,SYNGAP1-AS1c.1937G= (p.Arg646=)
c.2195G= (p.Arg732=)
c.*592G= (n.*592G=)
c.2018G= (p.Arg673=)
c.2150G= (p.Arg717=)
n.330-4179C=
6g.33441660G>TCA363623579SYNGAP1,SYNGAP1-AS1c.1937G>T (p.Arg646Met)
c.2195G>T (p.Arg732Met)
c.*592G>T (n.*592G>T)
c.2018G>T (p.Arg673Met)
c.2150G>T (p.Arg717Met)
n.330-4179C>A
6g.33441661G>ACA450103606SYNGAP1,SYNGAP1-AS1c.1938G>A (p.Arg646=)
c.2196G>A (p.Arg732=)
c.*593G>A (n.*593G>A)
c.2019G>A (p.Arg673=)
c.2151G>A (p.Arg717=)
n.330-4180C>T
6g.33441661G>CCA363623581SYNGAP1,SYNGAP1-AS1c.1938G>C (p.Arg646Ser)
c.2196G>C (p.Arg732Ser)
c.*593G>C (n.*593G>C)
c.2019G>C (p.Arg673Ser)
c.2151G>C (p.Arg717Ser)
n.330-4180C>G
6g.33441661G>TCA363623580SYNGAP1,SYNGAP1-AS1c.1938G>T (p.Arg646Ser)
c.2196G>T (p.Arg732Ser)
c.*593G>T (n.*593G>T)
c.2019G>T (p.Arg673Ser)
c.2151G>T (p.Arg717Ser)
n.330-4180C>A
6g.33441662C>ACA363623583SYNGAP1,SYNGAP1-AS1c.1939C>A (p.Gln647Lys)
c.2197C>A (p.Gln733Lys)
c.*594C>A (n.*594C>A)
c.2020C>A (p.Gln674Lys)
c.2152C>A (p.Gln718Lys)
n.330-4181G>T
6g.33441662C=CA1620013892SYNGAP1,SYNGAP1-AS1c.1939C= (p.Gln647=)
c.2197C= (p.Gln733=)
c.*594C= (n.*594C=)
c.2020C= (p.Gln674=)
c.2152C= (p.Gln718=)
n.330-4181G=
6g.33441662C>GCA363623586SYNGAP1,SYNGAP1-AS1c.1939C>G (p.Gln647Glu)
c.2197C>G (p.Gln733Glu)
c.*594C>G (n.*594C>G)
c.2020C>G (p.Gln674Glu)
c.2152C>G (p.Gln718Glu)
n.330-4181G>C
6g.33441662C>TCA363623588SYNGAP1,SYNGAP1-AS1c.1939C>T (p.Gln647Ter)
c.2197C>T (p.Gln733Ter)
c.*594C>T (n.*594C>T)
c.2020C>T (p.Gln674Ter)
c.2152C>T (p.Gln718Ter)
n.330-4181G>A
 ClinVar dbSNP
6g.33441663A>CCA363623592SYNGAP1,SYNGAP1-AS1c.1940A>C (p.Gln647Pro)
c.2198A>C (p.Gln733Pro)
c.*595A>C (n.*595A>C)
c.2021A>C (p.Gln674Pro)
c.2153A>C (p.Gln718Pro)
n.330-4182T>G
6g.33441663A>GCA363623594SYNGAP1,SYNGAP1-AS1c.1940A>G (p.Gln647Arg)
c.2198A>G (p.Gln733Arg)
c.*595A>G (n.*595A>G)
c.2021A>G (p.Gln674Arg)
c.2153A>G (p.Gln718Arg)
n.330-4182T>C
6g.33441663A>TCA363623596SYNGAP1,SYNGAP1-AS1c.1940A>T (p.Gln647Leu)
c.2198A>T (p.Gln733Leu)
c.*595A>T (n.*595A>T)
c.2021A>T (p.Gln674Leu)
c.2153A>T (p.Gln718Leu)
n.330-4182T>A
6g.33441664G>ACA450103607SYNGAP1,SYNGAP1-AS1c.1941G>A (p.Gln647=)
c.2199G>A (p.Gln733=)
c.*596G>A (n.*596G>A)
c.2022G>A (p.Gln674=)
c.2154G>A (p.Gln718=)
n.330-4183C>T
6g.33441664G>CCA363623604SYNGAP1,SYNGAP1-AS1c.1941G>C (p.Gln647His)
c.2199G>C (p.Gln733His)
c.*596G>C (n.*596G>C)
c.2022G>C (p.Gln674His)
c.2154G>C (p.Gln718His)
n.330-4183C>G
6g.33441664G>TCA363623603SYNGAP1,SYNGAP1-AS1c.1941G>T (p.Gln647His)
c.2199G>T (p.Gln733His)
c.*596G>T (n.*596G>T)
c.2022G>T (p.Gln674His)
c.2154G>T (p.Gln718His)
n.330-4183C>A
6g.33441665C>ACA363623608SYNGAP1,SYNGAP1-AS1c.1942C>A (p.Pro648Thr)
c.2200C>A (p.Pro734Thr)
c.*597C>A (n.*597C>A)
c.2023C>A (p.Pro675Thr)
c.2155C>A (p.Pro719Thr)
n.330-4184G>T
6g.33441665C=CA1620013893SYNGAP1,SYNGAP1-AS1c.1942C= (p.Pro648=)
c.2200C= (p.Pro734=)
c.*597C= (n.*597C=)
c.2023C= (p.Pro675=)
c.2155C= (p.Pro719=)
n.330-4184G=
6g.33441665C>GCA363623611SYNGAP1,SYNGAP1-AS1c.1942C>G (p.Pro648Ala)
c.2200C>G (p.Pro734Ala)
c.*597C>G (n.*597C>G)
c.2023C>G (p.Pro675Ala)
c.2155C>G (p.Pro719Ala)
n.330-4184G>C
6g.33441665C>TCA3758810SYNGAP1,SYNGAP1-AS1c.1942C>T (p.Pro648Ser)
c.2200C>T (p.Pro734Ser)
c.*597C>T (n.*597C>T)
c.2023C>T (p.Pro675Ser)
c.2155C>T (p.Pro719Ser)
n.330-4184G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.33441666C>ACA363623616SYNGAP1,SYNGAP1-AS1c.1943C>A (p.Pro648Gln)
c.2201C>A (p.Pro734Gln)
c.*598C>A (n.*598C>A)
c.2024C>A (p.Pro675Gln)
c.2156C>A (p.Pro719Gln)
n.330-4185G>T
6g.33441666C>GCA363623619SYNGAP1,SYNGAP1-AS1c.1943C>G (p.Pro648Arg)
c.2201C>G (p.Pro734Arg)
c.*598C>G (n.*598C>G)
c.2024C>G (p.Pro675Arg)
c.2156C>G (p.Pro719Arg)
n.330-4185G>C
6g.33441666C>TCA363623620SYNGAP1,SYNGAP1-AS1c.1943C>T (p.Pro648Leu)
c.2201C>T (p.Pro734Leu)
c.*598C>T (n.*598C>T)
c.2024C>T (p.Pro675Leu)
c.2156C>T (p.Pro719Leu)
n.330-4185G>A
 gnomAD v4
6g.33441667A=CA1620013894SYNGAP1,SYNGAP1-AS1c.1944A= (p.Pro648=)
c.2202A= (p.Pro734=)
c.*599A= (n.*599A=)
c.2025A= (p.Pro675=)
c.2157A= (p.Pro719=)
n.330-4186T=
6g.33441667A>CCA137071634SYNGAP1,SYNGAP1-AS1c.1944A>C (p.Pro648=)
c.2202A>C (p.Pro734=)
c.*599A>C (n.*599A>C)
c.2025A>C (p.Pro675=)
c.2157A>C (p.Pro719=)
n.330-4186T>G
 dbSNP
6g.33441667A>GCA450103608SYNGAP1,SYNGAP1-AS1c.1944A>G (p.Pro648=)
c.2202A>G (p.Pro734=)
c.*599A>G (n.*599A>G)
c.2025A>G (p.Pro675=)
c.2157A>G (p.Pro719=)
n.330-4186T>C
6g.33441667A>TCA450103609SYNGAP1,SYNGAP1-AS1c.1944A>T (p.Pro648=)
c.2202A>T (p.Pro734=)
c.*599A>T (n.*599A>T)
c.2025A>T (p.Pro675=)
c.2157A>T (p.Pro719=)
n.330-4186T>A
6g.33441668A>CCA363623621SYNGAP1,SYNGAP1-AS1c.1945A>C (p.Ser649Arg)
c.2203A>C (p.Ser735Arg)
c.*600A>C (n.*600A>C)
c.2026A>C (p.Ser676Arg)
c.2158A>C (p.Ser720Arg)
n.330-4187T>G
6g.33441668A>GCA363623625SYNGAP1,SYNGAP1-AS1c.1945A>G (p.Ser649Gly)
c.2203A>G (p.Ser735Gly)
c.*600A>G (n.*600A>G)
c.2026A>G (p.Ser676Gly)
c.2158A>G (p.Ser720Gly)
n.330-4187T>C
6g.33441668A>TCA363623623SYNGAP1,SYNGAP1-AS1c.1945A>T (p.Ser649Cys)
c.2203A>T (p.Ser735Cys)
c.*600A>T (n.*600A>T)
c.2026A>T (p.Ser676Cys)
c.2158A>T (p.Ser720Cys)
n.330-4187T>A
6g.33441669G>ACA363623628SYNGAP1,SYNGAP1-AS1c.1946G>A (p.Ser649Asn)
c.2204G>A (p.Ser735Asn)
c.*601G>A (n.*601G>A)
c.2027G>A (p.Ser676Asn)
c.2159G>A (p.Ser720Asn)
n.330-4188C>T
6g.33441669G>CCA363623629SYNGAP1,SYNGAP1-AS1c.1946G>C (p.Ser649Thr)
c.2204G>C (p.Ser735Thr)
c.*601G>C (n.*601G>C)
c.2027G>C (p.Ser676Thr)
c.2159G>C (p.Ser720Thr)
n.330-4188C>G
6g.33441669G>TCA363623631SYNGAP1,SYNGAP1-AS1c.1946G>T (p.Ser649Ile)
c.2204G>T (p.Ser735Ile)
c.*601G>T (n.*601G>T)
c.2027G>T (p.Ser676Ile)
c.2159G>T (p.Ser720Ile)
n.330-4188C>A
6g.33441669_33441673delCA2770572153SYNGAP1,SYNGAP1-AS1c.1946_1950del (p.Ser649ThrfsTer3)
c.2204_2208del (p.Ser735ThrfsTer3)
c.*601_*605del (n.*601_*605del)
c.2027_2031del (p.Ser676ThrfsTer3)
c.2159_2163del (p.Ser720ThrfsTer3)
n.330-4192_330-4188del
6g.33441670C>ACA363623633SYNGAP1,SYNGAP1-AS1c.1947C>A (p.Ser649Arg)
c.2205C>A (p.Ser735Arg)
c.*602C>A (n.*602C>A)
c.2028C>A (p.Ser676Arg)
c.2160C>A (p.Ser720Arg)
n.330-4189G>T
6g.33441670C>GCA363623634SYNGAP1,SYNGAP1-AS1c.1947C>G (p.Ser649Arg)
c.2205C>G (p.Ser735Arg)
c.*602C>G (n.*602C>G)
c.2028C>G (p.Ser676Arg)
c.2160C>G (p.Ser720Arg)
n.330-4189G>C
6g.33441670C>TCA450103610SYNGAP1,SYNGAP1-AS1c.1947C>T (p.Ser649=)
c.2205C>T (p.Ser735=)
c.*602C>T (n.*602C>T)
c.2028C>T (p.Ser676=)
c.2160C>T (p.Ser720=)
n.330-4189G>A
6g.33441671C>ACA363623652SYNGAP1,SYNGAP1-AS1c.1948C>A (p.Arg650Ser)
c.2206C>A (p.Arg736Ser)
c.*603C>A (n.*603C>A)
c.2029C>A (p.Arg677Ser)
c.2161C>A (p.Arg721Ser)
n.330-4190G>T
6g.33441671C=CA1620013895SYNGAP1,SYNGAP1-AS1c.1948C= (p.Arg650=)
c.2206C= (p.Arg736=)
c.*603C= (n.*603C=)
c.2029C= (p.Arg677=)
c.2161C= (p.Arg721=)
n.330-4190G=
6g.33441671C>GCA363623639SYNGAP1,SYNGAP1-AS1c.1948C>G (p.Arg650Gly)
c.2206C>G (p.Arg736Gly)
c.*603C>G (n.*603C>G)
c.2029C>G (p.Arg677Gly)
c.2161C>G (p.Arg721Gly)
n.330-4190G>C
6g.33441671C>TCA363623638SYNGAP1,SYNGAP1-AS1c.1948C>T (p.Arg650Cys)
c.2206C>T (p.Arg736Cys)
c.*603C>T (n.*603C>T)
c.2029C>T (p.Arg677Cys)
c.2161C>T (p.Arg721Cys)
n.330-4190G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
6g.33441672G>ACA137071636SYNGAP1,SYNGAP1-AS1c.1949G>A (p.Arg650His)
c.2207G>A (p.Arg736His)
c.*604G>A (n.*604G>A)
c.2030G>A (p.Arg677His)
c.2162G>A (p.Arg721His)
n.330-4191C>T
 ClinVar dbSNP gnomAD v4
6g.33441672G>CCA363623654SYNGAP1,SYNGAP1-AS1c.1949G>C (p.Arg650Pro)
c.2207G>C (p.Arg736Pro)
c.*604G>C (n.*604G>C)
c.2030G>C (p.Arg677Pro)
c.2162G>C (p.Arg721Pro)
n.330-4191C>G
6g.33441672G=CA1620013896SYNGAP1,SYNGAP1-AS1c.1949G= (p.Arg650=)
c.2207G= (p.Arg736=)
c.*604G= (n.*604G=)
c.2030G= (p.Arg677=)
c.2162G= (p.Arg721=)
n.330-4191C=
6g.33441672G>TCA363623656SYNGAP1,SYNGAP1-AS1c.1949G>T (p.Arg650Leu)
c.2207G>T (p.Arg736Leu)
c.*604G>T (n.*604G>T)
c.2030G>T (p.Arg677Leu)
c.2162G>T (p.Arg721Leu)
n.330-4191C>A
6g.33441673C>ACA450103611SYNGAP1,SYNGAP1-AS1c.1950C>A (p.Arg650=)
c.2208C>A (p.Arg736=)
c.*605C>A (n.*605C>A)
c.2031C>A (p.Arg677=)
c.2163C>A (p.Arg721=)
n.330-4192G>T
6g.33441673C>GCA450103612SYNGAP1,SYNGAP1-AS1c.1950C>G (p.Arg650=)
c.2208C>G (p.Arg736=)
c.*605C>G (n.*605C>G)
c.2031C>G (p.Arg677=)
c.2163C>G (p.Arg721=)
n.330-4192G>C
6g.33441673C>TCA450103613SYNGAP1,SYNGAP1-AS1c.1950C>T (p.Arg650=)
c.2208C>T (p.Arg736=)
c.*605C>T (n.*605C>T)
c.2031C>T (p.Arg677=)
c.2163C>T (p.Arg721=)
n.330-4192G>A
 gnomAD v4
6g.33441674C>ACA363623659SYNGAP1,SYNGAP1-AS1c.1951C>A (p.Gln651Lys)
c.2209C>A (p.Gln737Lys)
c.*606C>A (n.*606C>A)
c.2032C>A (p.Gln678Lys)
c.2164C>A (p.Gln722Lys)
n.330-4193G>T
6g.33441674C=CA1620013897SYNGAP1,SYNGAP1-AS1c.1951C= (p.Gln651=)
c.2209C= (p.Gln737=)
c.*606C= (n.*606C=)
c.2032C= (p.Gln678=)
c.2164C= (p.Gln722=)
n.330-4193G=
6g.33441674C>GCA363623661SYNGAP1,SYNGAP1-AS1c.1951C>G (p.Gln651Glu)
c.2209C>G (p.Gln737Glu)
c.*606C>G (n.*606C>G)
c.2032C>G (p.Gln678Glu)
c.2164C>G (p.Gln722Glu)
n.330-4193G>C
6g.33441674C>TCA363623663SYNGAP1,SYNGAP1-AS1c.1951C>T (p.Gln651Ter)
c.2209C>T (p.Gln737Ter)
c.*606C>T (n.*606C>T)
c.2032C>T (p.Gln678Ter)
c.2164C>T (p.Gln722Ter)
n.330-4193G>A
 ClinVar dbSNP
6g.33441675A=CA1620013898SYNGAP1,SYNGAP1-AS1c.1952A= (p.Gln651=)
c.2210A= (p.Gln737=)
c.*607A= (n.*607A=)
c.2033A= (p.Gln678=)
c.2165A= (p.Gln722=)
n.330-4194T=
6g.33441675A>CCA363623666SYNGAP1,SYNGAP1-AS1c.1952A>C (p.Gln651Pro)
c.2210A>C (p.Gln737Pro)
c.*607A>C (n.*607A>C)
c.2033A>C (p.Gln678Pro)
c.2165A>C (p.Gln722Pro)
n.330-4194T>G
 ClinVar dbSNP
6g.33441675A>GCA363623673SYNGAP1,SYNGAP1-AS1c.1952A>G (p.Gln651Arg)
c.2210A>G (p.Gln737Arg)
c.*607A>G (n.*607A>G)
c.2033A>G (p.Gln678Arg)
c.2165A>G (p.Gln722Arg)
n.330-4194T>C
6g.33441675A>TCA363623672SYNGAP1,SYNGAP1-AS1c.1952A>T (p.Gln651Leu)
c.2210A>T (p.Gln737Leu)
c.*607A>T (n.*607A>T)
c.2033A>T (p.Gln678Leu)
c.2165A>T (p.Gln722Leu)
n.330-4194T>A
6g.33441677_33441678delCA2695202912SYNGAP1,SYNGAP1-AS1c.1954_1955del (p.Ser652Ter)
c.2212_2213del (p.Ser738Ter)
c.*609_*610del (n.*609_*610del)
c.2035_2036del (p.Ser679Ter)
c.2167_2168del (p.Ser723Ter)
n.330-4195_330-4194del
6g.33441676G>ACA450103614SYNGAP1,SYNGAP1-AS1c.1953G>A (p.Gln651=)
c.2211G>A (p.Gln737=)
c.*608G>A (n.*608G>A)
c.2034G>A (p.Gln678=)
c.2166G>A (p.Gln722=)
n.330-4195C>T
6g.33441676G>CCA363623674SYNGAP1,SYNGAP1-AS1c.1953G>C (p.Gln651His)
c.2211G>C (p.Gln737His)
c.*608G>C (n.*608G>C)
c.2034G>C (p.Gln678His)
c.2166G>C (p.Gln722His)
n.330-4195C>G
 dbSNP
6g.33441676G=CA1620013899SYNGAP1,SYNGAP1-AS1c.1953G= (p.Gln651=)
c.2211G= (p.Gln737=)
c.*608G= (n.*608G=)
c.2034G= (p.Gln678=)
c.2166G= (p.Gln722=)
n.330-4195C=
6g.33441676G>TCA363623676SYNGAP1,SYNGAP1-AS1c.1953G>T (p.Gln651His)
c.2211G>T (p.Gln737His)
c.*608G>T (n.*608G>T)
c.2034G>T (p.Gln678His)
c.2166G>T (p.Gln722His)
n.330-4195C>A
6g.33441679_33441682delCA2695202913SYNGAP1,SYNGAP1-AS1c.1956_1959del (p.Glu653GlyfsTer20)
c.2214_2217del (p.Glu739GlyfsTer20)
c.*611_*614del (n.*611_*614del)
c.2037_2040del (p.Glu680GlyfsTer20)
c.2169_2172del (p.Glu724GlyfsTer20)
n.330-4198_330-4195del
6g.33441677A>CCA363623679SYNGAP1,SYNGAP1-AS1c.1954A>C (p.Ser652Arg)
c.2212A>C (p.Ser738Arg)
c.*609A>C (n.*609A>C)
c.2035A>C (p.Ser679Arg)
c.2167A>C (p.Ser723Arg)
n.330-4196T>G
6g.33441677A>GCA363623683SYNGAP1,SYNGAP1-AS1c.1954A>G (p.Ser652Gly)
c.2212A>G (p.Ser738Gly)
c.*609A>G (n.*609A>G)
c.2035A>G (p.Ser679Gly)
c.2167A>G (p.Ser723Gly)
n.330-4196T>C
6g.33441677A>TCA363623684SYNGAP1,SYNGAP1-AS1c.1954A>T (p.Ser652Cys)
c.2212A>T (p.Ser738Cys)
c.*609A>T (n.*609A>T)
c.2035A>T (p.Ser679Cys)
c.2167A>T (p.Ser723Cys)
n.330-4196T>A
 gnomAD v4
6g.33441678G>ACA363623685SYNGAP1,SYNGAP1-AS1c.1955G>A (p.Ser652Asn)
c.2213G>A (p.Ser738Asn)
c.*610G>A (n.*610G>A)
c.2036G>A (p.Ser679Asn)
c.2168G>A (p.Ser723Asn)
n.330-4197C>T
6g.33441678G>CCA363623686SYNGAP1,SYNGAP1-AS1c.1955G>C (p.Ser652Thr)
c.2213G>C (p.Ser738Thr)
c.*610G>C (n.*610G>C)
c.2036G>C (p.Ser679Thr)
c.2168G>C (p.Ser723Thr)
n.330-4197C>G
6g.33441678G>TCA363623687SYNGAP1,SYNGAP1-AS1c.1955G>T (p.Ser652Ile)
c.2213G>T (p.Ser738Ile)
c.*610G>T (n.*610G>T)
c.2036G>T (p.Ser679Ile)
c.2168G>T (p.Ser723Ile)
n.330-4197C>A
6g.33441679T>ACA363623689SYNGAP1,SYNGAP1-AS1c.1956T>A (p.Ser652Arg)
c.2214T>A (p.Ser738Arg)
c.*611T>A (n.*611T>A)
c.2037T>A (p.Ser679Arg)
c.2169T>A (p.Ser723Arg)
n.330-4198A>T
6g.33441679T>CCA450103615SYNGAP1,SYNGAP1-AS1c.1956T>C (p.Ser652=)
c.2214T>C (p.Ser738=)
c.*611T>C (n.*611T>C)
c.2037T>C (p.Ser679=)
c.2169T>C (p.Ser723=)
n.330-4198A>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.33441679T>GCA363623691SYNGAP1,SYNGAP1-AS1c.1956T>G (p.Ser652Arg)
c.2214T>G (p.Ser738Arg)
c.*611T>G (n.*611T>G)
c.2037T>G (p.Ser679Arg)
c.2169T>G (p.Ser723Arg)
n.330-4198A>C
 ClinVar dbSNP gnomAD v4
6g.33441679T=CA1620013900SYNGAP1,SYNGAP1-AS1c.1956T= (p.Ser652=)
c.2214T= (p.Ser738=)
c.*611T= (n.*611T=)
c.2037T= (p.Ser679=)
c.2169T= (p.Ser723=)
n.330-4198A=
6g.33441680G>ACA363623699SYNGAP1,SYNGAP1-AS1c.1957G>A (p.Glu653Lys)
c.2215G>A (p.Glu739Lys)
c.*612G>A (n.*612G>A)
c.2038G>A (p.Glu680Lys)
c.2170G>A (p.Glu724Lys)
n.330-4199C>T
6g.33441680G>CCA363623697SYNGAP1,SYNGAP1-AS1c.1957G>C (p.Glu653Gln)
c.2215G>C (p.Glu739Gln)
c.*612G>C (n.*612G>C)
c.2038G>C (p.Glu680Gln)
c.2170G>C (p.Glu724Gln)
n.330-4199C>G
 ClinVar
6g.33441680G=CA1620013901SYNGAP1,SYNGAP1-AS1c.1957G= (p.Glu653=)
c.2215G= (p.Glu739=)
c.*612G= (n.*612G=)
c.2038G= (p.Glu680=)
c.2170G= (p.Glu724=)
n.330-4199C=
6g.33441680G>TCA363623692SYNGAP1,SYNGAP1-AS1c.1957G>T (p.Glu653Ter)
c.2215G>T (p.Glu739Ter)
c.*612G>T (n.*612G>T)
c.2038G>T (p.Glu680Ter)
c.2170G>T (p.Glu724Ter)
n.330-4199C>A
 ClinVar dbSNP
6g.33441681A>CCA363623701SYNGAP1,SYNGAP1-AS1c.1958A>C (p.Glu653Ala)
c.2216A>C (p.Glu739Ala)
c.*613A>C (n.*613A>C)
c.2039A>C (p.Glu680Ala)
c.2171A>C (p.Glu724Ala)
n.330-4200T>G
6g.33441681A>GCA363623703SYNGAP1,SYNGAP1-AS1c.1958A>G (p.Glu653Gly)
c.2216A>G (p.Glu739Gly)
c.*613A>G (n.*613A>G)
c.2039A>G (p.Glu680Gly)
c.2171A>G (p.Glu724Gly)
n.330-4200T>C
6g.33441681A>TCA363623702SYNGAP1,SYNGAP1-AS1c.1958A>T (p.Glu653Val)
c.2216A>T (p.Glu739Val)
c.*613A>T (n.*613A>T)
c.2039A>T (p.Glu680Val)
c.2171A>T (p.Glu724Val)
n.330-4200T>A
 ClinVar
6g.33441682G>ACA450103616SYNGAP1,SYNGAP1-AS1c.1959G>A (p.Glu653=)
c.2217G>A (p.Glu739=)
c.*614G>A (n.*614G>A)
c.2040G>A (p.Glu680=)
c.2172G>A (p.Glu724=)
n.330-4201C>T
 gnomAD v4
6g.33441682G>CCA363623704SYNGAP1,SYNGAP1-AS1c.1959G>C (p.Glu653Asp)
c.2217G>C (p.Glu739Asp)
c.*614G>C (n.*614G>C)
c.2040G>C (p.Glu680Asp)
c.2172G>C (p.Glu724Asp)
n.330-4201C>G
6g.33441682G>TCA363623705SYNGAP1,SYNGAP1-AS1c.1959G>T (p.Glu653Asp)
c.2217G>T (p.Glu739Asp)
c.*614G>T (n.*614G>T)
c.2040G>T (p.Glu680Asp)
c.2172G>T (p.Glu724Asp)
n.330-4201C>A
6g.33441683C>ACA450103617SYNGAP1,SYNGAP1-AS1c.1960C>A (p.Arg654=)
c.2218C>A (p.Arg740=)
c.*615C>A (n.*615C>A)
c.2041C>A (p.Arg681=)
c.2173C>A (p.Arg725=)
n.330-4202G>T
6g.33441683C=CA1620013902SYNGAP1,SYNGAP1-AS1c.1960C= (p.Arg654=)
c.2218C= (p.Arg740=)
c.*615C= (n.*615C=)
c.2041C= (p.Arg681=)
c.2173C= (p.Arg725=)
n.330-4202G=
6g.33441683C>GCA363623706SYNGAP1,SYNGAP1-AS1c.1960C>G (p.Arg654Gly)
c.2218C>G (p.Arg740Gly)
c.*615C>G (n.*615C>G)
c.2041C>G (p.Arg681Gly)
c.2173C>G (p.Arg725Gly)
n.330-4202G>C
6g.33441683C>TCA363623707SYNGAP1,SYNGAP1-AS1c.1960C>T (p.Arg654Trp)
c.2218C>T (p.Arg740Trp)
c.*615C>T (n.*615C>T)
c.2041C>T (p.Arg681Trp)
c.2173C>T (p.Arg725Trp)
n.330-4202G>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
6g.33441684G>ACA363623708SYNGAP1,SYNGAP1-AS1c.1961G>A (p.Arg654Gln)
c.2219G>A (p.Arg740Gln)
c.*616G>A (n.*616G>A)
c.2042G>A (p.Arg681Gln)
c.2174G>A (p.Arg725Gln)
n.330-4203C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
6g.33441684G>CCA363623709SYNGAP1,SYNGAP1-AS1c.1961G>C (p.Arg654Pro)
c.2219G>C (p.Arg740Pro)
c.*616G>C (n.*616G>C)
c.2042G>C (p.Arg681Pro)
c.2174G>C (p.Arg725Pro)
n.330-4203C>G
6g.33441684G=CA1620013903SYNGAP1,SYNGAP1-AS1c.1961G= (p.Arg654=)
c.2219G= (p.Arg740=)
c.*616G= (n.*616G=)
c.2042G= (p.Arg681=)
c.2174G= (p.Arg725=)
n.330-4203C=
6g.33441684G>TCA363623710SYNGAP1,SYNGAP1-AS1c.1961G>T (p.Arg654Leu)
c.2219G>T (p.Arg740Leu)
c.*616G>T (n.*616G>T)
c.2042G>T (p.Arg681Leu)
c.2174G>T (p.Arg725Leu)
n.330-4203C>A
6g.33441685G>ACA450103618SYNGAP1,SYNGAP1-AS1c.1962G>A (p.Arg654=)
c.2220G>A (p.Arg740=)
c.*617G>A (n.*617G>A)
c.2043G>A (p.Arg681=)
c.2175G>A (p.Arg725=)
n.330-4204C>T
6g.33441685G>CCA450103619SYNGAP1,SYNGAP1-AS1c.1962G>C (p.Arg654=)
c.2220G>C (p.Arg740=)
c.*617G>C (n.*617G>C)
c.2043G>C (p.Arg681=)
c.2175G>C (p.Arg725=)
n.330-4204C>G
6g.33441685G>TCA450103620SYNGAP1,SYNGAP1-AS1c.1962G>T (p.Arg654=)
c.2220G>T (p.Arg740=)
c.*617G>T (n.*617G>T)
c.2043G>T (p.Arg681=)
c.2175G>T (p.Arg725=)
n.330-4204C>A
6g.33441686C>ACA363623711SYNGAP1,SYNGAP1-AS1c.1963C>A (p.Pro655Thr)
c.2221C>A (p.Pro741Thr)
c.*618C>A (n.*618C>A)
c.2044C>A (p.Pro682Thr)
c.2176C>A (p.Pro726Thr)
n.330-4205G>T
6g.33441686C=CA1620013904SYNGAP1,SYNGAP1-AS1c.1963C= (p.Pro655=)
c.2221C= (p.Pro741=)
c.*618C= (n.*618C=)
c.2044C= (p.Pro682=)
c.2176C= (p.Pro726=)
n.330-4205G=
6g.33441686C>GCA363623712SYNGAP1,SYNGAP1-AS1c.1963C>G (p.Pro655Ala)
c.2221C>G (p.Pro741Ala)
c.*618C>G (n.*618C>G)
c.2044C>G (p.Pro682Ala)
c.2176C>G (p.Pro726Ala)
n.330-4205G>C
6g.33441686C>TCA3758811SYNGAP1,SYNGAP1-AS1c.1963C>T (p.Pro655Ser)
c.2221C>T (p.Pro741Ser)
c.*618C>T (n.*618C>T)
c.2044C>T (p.Pro682Ser)
c.2176C>T (p.Pro726Ser)
n.330-4205G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6g.33441687C>ACA363623715SYNGAP1,SYNGAP1-AS1c.1964C>A (p.Pro655His)
c.2222C>A (p.Pro741His)
c.*619C>A (n.*619C>A)
c.2045C>A (p.Pro682His)
c.2177C>A (p.Pro726His)
n.330-4206G>T
6g.33441687C>GCA363623716SYNGAP1,SYNGAP1-AS1c.1964C>G (p.Pro655Arg)
c.2222C>G (p.Pro741Arg)
c.*619C>G (n.*619C>G)
c.2045C>G (p.Pro682Arg)
c.2177C>G (p.Pro726Arg)
n.330-4206G>C
6g.33441687C>TCA363623718SYNGAP1,SYNGAP1-AS1c.1964C>T (p.Pro655Leu)
c.2222C>T (p.Pro741Leu)
c.*619C>T (n.*619C>T)
c.2045C>T (p.Pro682Leu)
c.2177C>T (p.Pro726Leu)
n.330-4206G>A
6g.33441688C>ACA450103621SYNGAP1,SYNGAP1-AS1c.1965C>A (p.Pro655=)
c.2223C>A (p.Pro741=)
c.*620C>A (n.*620C>A)
c.2046C>A (p.Pro682=)
c.2178C>A (p.Pro726=)
n.330-4207G>T
6g.33441688C=CA1620013905SYNGAP1,SYNGAP1-AS1c.1965C= (p.Pro655=)
c.2223C= (p.Pro741=)
c.*620C= (n.*620C=)
c.2046C= (p.Pro682=)
c.2178C= (p.Pro726=)
n.330-4207G=
6g.33441688C>GCA3758812SYNGAP1,SYNGAP1-AS1c.1965C>G (p.Pro655=)
c.2223C>G (p.Pro741=)
c.*620C>G (n.*620C>G)
c.2046C>G (p.Pro682=)
c.2178C>G (p.Pro726=)
n.330-4207G>C
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.33441688C>TCA450103622SYNGAP1,SYNGAP1-AS1c.1965C>T (p.Pro655=)
c.2223C>T (p.Pro741=)
c.*620C>T (n.*620C>T)
c.2046C>T (p.Pro682=)
c.2178C>T (p.Pro726=)
n.330-4207G>A
 ClinVar dbSNP
6g.33441689C>ACA450103623SYNGAP1,SYNGAP1-AS1c.1966C>A (p.Arg656=)
c.2224C>A (p.Arg742=)
c.*621C>A (n.*621C>A)
c.2047C>A (p.Arg683=)
c.2179C>A (p.Arg727=)
n.330-4208G>T
 dbSNP gnomAD v2 gnomAD v4
6g.33441689C=CA1620013906SYNGAP1,SYNGAP1-AS1c.1966C= (p.Arg656=)
c.2224C= (p.Arg742=)
c.*621C= (n.*621C=)
c.2047C= (p.Arg683=)
c.2179C= (p.Arg727=)
n.330-4208G=
6g.33441689C>GCA363623723SYNGAP1,SYNGAP1-AS1c.1966C>G (p.Arg656Gly)
c.2224C>G (p.Arg742Gly)
c.*621C>G (n.*621C>G)
c.2047C>G (p.Arg683Gly)
c.2179C>G (p.Arg727Gly)
n.330-4208G>C
6g.33441689C>TCA363623725SYNGAP1,SYNGAP1-AS1c.1966C>T (p.Arg656Trp)
c.2224C>T (p.Arg742Trp)
c.*621C>T (n.*621C>T)
c.2047C>T (p.Arg683Trp)
c.2179C>T (p.Arg727Trp)
n.330-4208G>A
 ClinVar gnomAD v4
6g.33441690G>ACA137071661SYNGAP1,SYNGAP1-AS1c.1967G>A (p.Arg656Gln)
c.2225G>A (p.Arg742Gln)
c.*622G>A (n.*622G>A)
c.2048G>A (p.Arg683Gln)
c.2180G>A (p.Arg727Gln)
n.330-4209C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
6g.33441690G>CCA363623730SYNGAP1,SYNGAP1-AS1c.1967G>C (p.Arg656Pro)
c.2225G>C (p.Arg742Pro)
c.*622G>C (n.*622G>C)
c.2048G>C (p.Arg683Pro)
c.2180G>C (p.Arg727Pro)
n.330-4209C>G
 gnomAD v4
6g.33441690G=CA1620013907SYNGAP1,SYNGAP1-AS1c.1967G= (p.Arg656=)
c.2225G= (p.Arg742=)
c.*622G= (n.*622G=)
c.2048G= (p.Arg683=)
c.2180G= (p.Arg727=)
n.330-4209C=
6g.33441690G>TCA363623733SYNGAP1,SYNGAP1-AS1c.1967G>T (p.Arg656Leu)
c.2225G>T (p.Arg742Leu)
c.*622G>T (n.*622G>T)
c.2048G>T (p.Arg683Leu)
c.2180G>T (p.Arg727Leu)
n.330-4209C>A
6g.33441691G>ACA450103624SYNGAP1,SYNGAP1-AS1c.1968G>A (p.Arg656=)
c.2226G>A (p.Arg742=)
c.*623G>A (n.*623G>A)
c.2049G>A (p.Arg683=)
c.2181G>A (p.Arg727=)
n.330-4210C>T
6g.33441691G>CCA450103625SYNGAP1,SYNGAP1-AS1c.1968G>C (p.Arg656=)
c.2226G>C (p.Arg742=)
c.*623G>C (n.*623G>C)
c.2049G>C (p.Arg683=)
c.2181G>C (p.Arg727=)
n.330-4210C>G
 dbSNP
6g.33441691G=CA1620013908SYNGAP1,SYNGAP1-AS1c.1968G= (p.Arg656=)
c.2226G= (p.Arg742=)
c.*623G= (n.*623G=)
c.2049G= (p.Arg683=)
c.2181G= (p.Arg727=)
n.330-4210C=
6g.33441691G>TCA450103626SYNGAP1,SYNGAP1-AS1c.1968G>T (p.Arg656=)
c.2226G>T (p.Arg742=)
c.*623G>T (n.*623G>T)
c.2049G>T (p.Arg683=)
c.2181G>T (p.Arg727=)
n.330-4210C>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.33441692C>ACA363623735SYNGAP1,SYNGAP1-AS1c.1969C>A (p.Pro657Thr)
c.2227C>A (p.Pro743Thr)
c.*624C>A (n.*624C>A)
c.2050C>A (p.Pro684Thr)
c.2182C>A (p.Pro728Thr)
n.330-4211G>T
6g.33441692C=CA1620013909SYNGAP1,SYNGAP1-AS1c.1969C= (p.Pro657=)
c.2227C= (p.Pro743=)
c.*624C= (n.*624C=)
c.2050C= (p.Pro684=)
c.2182C= (p.Pro728=)
n.330-4211G=
6g.33441692C>GCA363623736SYNGAP1,SYNGAP1-AS1c.1969C>G (p.Pro657Ala)
c.2227C>G (p.Pro743Ala)
c.*624C>G (n.*624C>G)
c.2050C>G (p.Pro684Ala)
c.2182C>G (p.Pro728Ala)
n.330-4211G>C
6g.33441692C>TCA3758813SYNGAP1,SYNGAP1-AS1c.1969C>T (p.Pro657Ser)
c.2227C>T (p.Pro743Ser)
c.*624C>T (n.*624C>T)
c.2050C>T (p.Pro684Ser)
c.2182C>T (p.Pro728Ser)
n.330-4211G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.33441693C>ACA363623740SYNGAP1,SYNGAP1-AS1c.1970C>A (p.Pro657His)
c.2228C>A (p.Pro743His)
c.*625C>A (n.*625C>A)
c.2051C>A (p.Pro684His)
c.2183C>A (p.Pro728His)
n.330-4212G>T
6g.33441693C>GCA363623743SYNGAP1,SYNGAP1-AS1c.1970C>G (p.Pro657Arg)
c.2228C>G (p.Pro743Arg)
c.*625C>G (n.*625C>G)
c.2051C>G (p.Pro684Arg)
c.2183C>G (p.Pro728Arg)
n.330-4212G>C
6g.33441693C>TCA363623744SYNGAP1,SYNGAP1-AS1c.1970C>T (p.Pro657Leu)
c.2228C>T (p.Pro743Leu)
c.*625C>T (n.*625C>T)
c.2051C>T (p.Pro684Leu)
c.2183C>T (p.Pro728Leu)
n.330-4212G>A
 gnomAD v4
6g.33441694T>ACA450103627SYNGAP1,SYNGAP1-AS1c.1971T>A (p.Pro657=)
c.2229T>A (p.Pro743=)
c.*626T>A (n.*626T>A)
c.2052T>A (p.Pro684=)
c.2184T>A (p.Pro728=)
n.330-4213A>T
6g.33441694T>CCA450103628SYNGAP1,SYNGAP1-AS1c.1971T>C (p.Pro657=)
c.2229T>C (p.Pro743=)
c.*626T>C (n.*626T>C)
c.2052T>C (p.Pro684=)
c.2184T>C (p.Pro728=)
n.330-4213A>G
6g.33441694T>GCA450103629SYNGAP1,SYNGAP1-AS1c.1971T>G (p.Pro657=)
c.2229T>G (p.Pro743=)
c.*626T>G (n.*626T>G)
c.2052T>G (p.Pro684=)
c.2184T>G (p.Pro728=)
n.330-4213A>C
6g.33441695C>ACA363623747SYNGAP1,SYNGAP1-AS1c.1972C>A (p.Gln658Lys)
c.2230C>A (p.Gln744Lys)
c.*627C>A (n.*627C>A)
c.2053C>A (p.Gln685Lys)
c.2185C>A (p.Gln729Lys)
n.330-4214G>T
6g.33441695C=CA1620013910SYNGAP1,SYNGAP1-AS1c.1972C= (p.Gln658=)
c.2230C= (p.Gln744=)
c.*627C= (n.*627C=)
c.2053C= (p.Gln685=)
c.2185C= (p.Gln729=)
n.330-4214G=
6g.33441695C>GCA363623749SYNGAP1,SYNGAP1-AS1c.1972C>G (p.Gln658Glu)
c.2230C>G (p.Gln744Glu)
c.*627C>G (n.*627C>G)
c.2053C>G (p.Gln685Glu)
c.2185C>G (p.Gln729Glu)
n.330-4214G>C
6g.33441695C>TCA363623752SYNGAP1,SYNGAP1-AS1c.1972C>T (p.Gln658Ter)
c.2230C>T (p.Gln744Ter)
c.*627C>T (n.*627C>T)
c.2053C>T (p.Gln685Ter)
c.2185C>T (p.Gln729Ter)
n.330-4214G>A
 ClinVar dbSNP gnomAD v4
6g.33441696A>CCA363623765SYNGAP1,SYNGAP1-AS1c.1973A>C (p.Gln658Pro)
c.2231A>C (p.Gln744Pro)
c.*628A>C (n.*628A>C)
c.2054A>C (p.Gln685Pro)
c.2186A>C (p.Gln729Pro)
n.330-4215T>G
6g.33441696A>GCA363623755SYNGAP1,SYNGAP1-AS1c.1973A>G (p.Gln658Arg)
c.2231A>G (p.Gln744Arg)
c.*628A>G (n.*628A>G)
c.2054A>G (p.Gln685Arg)
c.2186A>G (p.Gln729Arg)
n.330-4215T>C
6g.33441696A>TCA363623758SYNGAP1,SYNGAP1-AS1c.1973A>T (p.Gln658Leu)
c.2231A>T (p.Gln744Leu)
c.*628A>T (n.*628A>T)
c.2054A>T (p.Gln685Leu)
c.2186A>T (p.Gln729Leu)
n.330-4215T>A
6g.33441697G>ACA450103630SYNGAP1,SYNGAP1-AS1c.1974G>A (p.Gln658=)
c.2232G>A (p.Gln744=)
c.*629G>A (n.*629G>A)
c.2055G>A (p.Gln685=)
c.2187G>A (p.Gln729=)
n.330-4216C>T
6g.33441697G>CCA363623769SYNGAP1,SYNGAP1-AS1c.1974G>C (p.Gln658His)
c.2232G>C (p.Gln744His)
c.*629G>C (n.*629G>C)
c.2055G>C (p.Gln685His)
c.2187G>C (p.Gln729His)
n.330-4216C>G
6g.33441697G>TCA363623773SYNGAP1,SYNGAP1-AS1c.1974G>T (p.Gln658His)
c.2232G>T (p.Gln744His)
c.*629G>T (n.*629G>T)
c.2055G>T (p.Gln685His)
c.2187G>T (p.Gln729His)
n.330-4216C>A
6g.33441698C>ACA363623777SYNGAP1,SYNGAP1-AS1c.1975C>A (p.Pro659Thr)
c.2233C>A (p.Pro745Thr)
c.*630C>A (n.*630C>A)
c.2056C>A (p.Pro686Thr)
c.2188C>A (p.Pro730Thr)
n.330-4217G>T
6g.33441698C>GCA363623780SYNGAP1,SYNGAP1-AS1c.1975C>G (p.Pro659Ala)
c.2233C>G (p.Pro745Ala)
c.*630C>G (n.*630C>G)
c.2056C>G (p.Pro686Ala)
c.2188C>G (p.Pro730Ala)
n.330-4217G>C
6g.33441698C>TCA363623782SYNGAP1,SYNGAP1-AS1c.1975C>T (p.Pro659Ser)
c.2233C>T (p.Pro745Ser)
c.*630C>T (n.*630C>T)
c.2056C>T (p.Pro686Ser)
c.2188C>T (p.Pro730Ser)
n.330-4217G>A
 gnomAD v4
6g.33441699delCA2499218226SYNGAP1,SYNGAP1-AS1c.1976del (p.Pro659LeufsTer15)
c.2234del (p.Pro745LeufsTer15)
c.*631del (n.*631del)
c.2057del (p.Pro686LeufsTer15)
c.2189del (p.Pro730LeufsTer15)
n.330-4217del
 ClinVar dbSNP
6g.33441699C>ACA363623788SYNGAP1,SYNGAP1-AS1c.1976C>A (p.Pro659His)
c.2234C>A (p.Pro745His)
c.*631C>A (n.*631C>A)
c.2057C>A (p.Pro686His)
c.2189C>A (p.Pro730His)
n.330-4218G>T
6g.33441699C>GCA363623789SYNGAP1,SYNGAP1-AS1c.1976C>G (p.Pro659Arg)
c.2234C>G (p.Pro745Arg)
c.*631C>G (n.*631C>G)
c.2057C>G (p.Pro686Arg)
c.2189C>G (p.Pro730Arg)
n.330-4218G>C
6g.33441699C>TCA363623792SYNGAP1,SYNGAP1-AS1c.1976C>T (p.Pro659Leu)
c.2234C>T (p.Pro745Leu)
c.*631C>T (n.*631C>T)
c.2057C>T (p.Pro686Leu)
c.2189C>T (p.Pro730Leu)
n.330-4218G>A
6g.33441700T>ACA450103631SYNGAP1,SYNGAP1-AS1c.1977T>A (p.Pro659=)
c.2235T>A (p.Pro745=)
c.*632T>A (n.*632T>A)
c.2058T>A (p.Pro686=)
c.2190T>A (p.Pro730=)
n.330-4219A>T
6g.33441700T>CCA450103632SYNGAP1,SYNGAP1-AS1c.1977T>C (p.Pro659=)
c.2235T>C (p.Pro745=)
c.*632T>C (n.*632T>C)
c.2058T>C (p.Pro686=)
c.2190T>C (p.Pro730=)
n.330-4219A>G
6g.33441700T>GCA450103633SYNGAP1,SYNGAP1-AS1c.1977T>G (p.Pro659=)
c.2235T>G (p.Pro745=)
c.*632T>G (n.*632T>G)
c.2058T>G (p.Pro686=)
c.2190T>G (p.Pro730=)
n.330-4219A>C
6g.33441700_33441703dupCA2739272899SYNGAP1,SYNGAP1-AS1c.1977_1980dup (p.Val661CysfsTer9)
c.2235_2238dup (p.Val747CysfsTer9)
c.*632_*635dup (n.*632_*635dup)
c.2058_2061dup (p.Val688CysfsTer9)
c.2190_2193dup (p.Val732CysfsTer9)
n.330-4222_330-4219dup
 ClinVar
6g.33441701G>ACA363623797SYNGAP1,SYNGAP1-AS1c.1978G>A (p.Val660Met)
c.2236G>A (p.Val746Met)
c.*633G>A (n.*633G>A)
c.2059G>A (p.Val687Met)
c.2191G>A (p.Val731Met)
n.330-4220C>T
6g.33441701G>CCA363623802SYNGAP1,SYNGAP1-AS1c.1978G>C (p.Val660Leu)
c.2236G>C (p.Val746Leu)
c.*633G>C (n.*633G>C)
c.2059G>C (p.Val687Leu)
c.2191G>C (p.Val731Leu)
n.330-4220C>G
 gnomAD v4
6g.33441701G>TCA363623800SYNGAP1,SYNGAP1-AS1c.1978G>T (p.Val660Leu)
c.2236G>T (p.Val746Leu)
c.*633G>T (n.*633G>T)
c.2059G>T (p.Val687Leu)
c.2191G>T (p.Val731Leu)
n.330-4220C>A
6g.33441702T>ACA363623805SYNGAP1,SYNGAP1-AS1c.1979T>A (p.Val660Glu)
c.2237T>A (p.Val746Glu)
c.*634T>A (n.*634T>A)
c.2060T>A (p.Val687Glu)
c.2192T>A (p.Val731Glu)
n.330-4221A>T
6g.33441702T>CCA363623808SYNGAP1,SYNGAP1-AS1c.1979T>C (p.Val660Ala)
c.2237T>C (p.Val746Ala)
c.*634T>C (n.*634T>C)
c.2060T>C (p.Val687Ala)
c.2192T>C (p.Val731Ala)
n.330-4221A>G
6g.33441702T>GCA363623811SYNGAP1,SYNGAP1-AS1c.1979T>G (p.Val660Gly)
c.2237T>G (p.Val746Gly)
c.*634T>G (n.*634T>G)
c.2060T>G (p.Val687Gly)
c.2192T>G (p.Val731Gly)
n.330-4221A>C
6g.33441703G>ACA3758814SYNGAP1,SYNGAP1-AS1c.1980G>A (p.Val660=)
c.2238G>A (p.Val746=)
c.*635G>A (n.*635G>A)
c.2061G>A (p.Val687=)
c.2193G>A (p.Val731=)
n.330-4222C>T
 ClinVar dbSNP ExAC gnomAD v2
6g.33441703G>CCA450103635SYNGAP1,SYNGAP1-AS1c.1980G>C (p.Val660=)
c.2238G>C (p.Val746=)
c.*635G>C (n.*635G>C)
c.2061G>C (p.Val687=)
c.2193G>C (p.Val731=)
n.330-4222C>G
6g.33441703G=CA1620013911SYNGAP1,SYNGAP1-AS1c.1980G= (p.Val660=)
c.2238G= (p.Val746=)
c.*635G= (n.*635G=)
c.2061G= (p.Val687=)
c.2193G= (p.Val731=)
n.330-4222C=
6g.33441703G>TCA450103634SYNGAP1,SYNGAP1-AS1c.1980G>T (p.Val660=)
c.2238G>T (p.Val746=)
c.*635G>T (n.*635G>T)
c.2061G>T (p.Val687=)
c.2193G>T (p.Val731=)
n.330-4222C>A
6g.33441704G>ACA363623813SYNGAP1,SYNGAP1-AS1c.1981G>A (p.Val661Ile)
c.2239G>A (p.Val747Ile)
c.*636G>A (n.*636G>A)
c.2062G>A (p.Val688Ile)
c.2194G>A (p.Val732Ile)
n.330-4223C>T
 COSMIC COSMIC
6g.33441704G>CCA363623815SYNGAP1,SYNGAP1-AS1c.1981G>C (p.Val661Leu)
c.2239G>C (p.Val747Leu)
c.*636G>C (n.*636G>C)
c.2062G>C (p.Val688Leu)
c.2194G>C (p.Val732Leu)
n.330-4223C>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.33441704G=CA1620013912SYNGAP1,SYNGAP1-AS1c.1981G= (p.Val661=)
c.2239G= (p.Val747=)
c.*636G= (n.*636G=)
c.2062G= (p.Val688=)
c.2194G= (p.Val732=)
n.330-4223C=
6g.33441704G>TCA363623814SYNGAP1,SYNGAP1-AS1c.1981G>T (p.Val661Leu)
c.2239G>T (p.Val747Leu)
c.*636G>T (n.*636G>T)
c.2062G>T (p.Val688Leu)
c.2194G>T (p.Val732Leu)
n.330-4223C>A
6g.33441705T>ACA363623816SYNGAP1,SYNGAP1-AS1c.1982T>A (p.Val661Glu)
c.2240T>A (p.Val747Glu)
c.*637T>A (n.*637T>A)
c.2063T>A (p.Val688Glu)
c.2195T>A (p.Val732Glu)
n.330-4224A>T
6g.33441705T>CCA363623817SYNGAP1,SYNGAP1-AS1c.1982T>C (p.Val661Ala)
c.2240T>C (p.Val747Ala)
c.*637T>C (n.*637T>C)
c.2063T>C (p.Val688Ala)
c.2195T>C (p.Val732Ala)
n.330-4224A>G
6g.33441705T>GCA363623820SYNGAP1,SYNGAP1-AS1c.1982T>G (p.Val661Gly)
c.2240T>G (p.Val747Gly)
c.*637T>G (n.*637T>G)
c.2063T>G (p.Val688Gly)
c.2195T>G (p.Val732Gly)
n.330-4224A>C
6g.33441706A>CCA450103636SYNGAP1,SYNGAP1-AS1c.1983A>C (p.Val661=)
c.2241A>C (p.Val747=)
c.*638A>C (n.*638A>C)
c.2064A>C (p.Val688=)
c.2196A>C (p.Val732=)
n.330-4225T>G
6g.33441706A>GCA450103637SYNGAP1,SYNGAP1-AS1c.1983A>G (p.Val661=)
c.2241A>G (p.Val747=)
c.*638A>G (n.*638A>G)
c.2064A>G (p.Val688=)
c.2196A>G (p.Val732=)
n.330-4225T>C
6g.33441706A>TCA450103638SYNGAP1,SYNGAP1-AS1c.1983A>T (p.Val661=)
c.2241A>T (p.Val747=)
c.*638A>T (n.*638A>T)
c.2064A>T (p.Val688=)
c.2196A>T (p.Val732=)
n.330-4225T>A
6g.33441707C>ACA363623822SYNGAP1,SYNGAP1-AS1c.1984C>A (p.Leu662Met)
c.2242C>A (p.Leu748Met)
c.*639C>A (n.*639C>A)
c.2065C>A (p.Leu689Met)
c.2197C>A (p.Leu733Met)
n.330-4226G>T
6g.33441707C=CA1620013913SYNGAP1,SYNGAP1-AS1c.1984C= (p.Leu662=)
c.2242C= (p.Leu748=)
c.*639C= (n.*639C=)
c.2065C= (p.Leu689=)
c.2197C= (p.Leu733=)
n.330-4226G=
6g.33441707C>GCA363623831SYNGAP1,SYNGAP1-AS1c.1984C>G (p.Leu662Val)
c.2242C>G (p.Leu748Val)
c.*639C>G (n.*639C>G)
c.2065C>G (p.Leu689Val)
c.2197C>G (p.Leu733Val)
n.330-4226G>C
6g.33441707C>TCA3758815SYNGAP1,SYNGAP1-AS1c.1984C>T (p.Leu662=)
c.2242C>T (p.Leu748=)
c.*639C>T (n.*639C>T)
c.2065C>T (p.Leu689=)
c.2197C>T (p.Leu733=)
n.330-4226G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.33441708T>ACA363623838SYNGAP1,SYNGAP1-AS1c.1985T>A (p.Leu662Gln)
c.2243T>A (p.Leu748Gln)
c.*640T>A (n.*640T>A)
c.2066T>A (p.Leu689Gln)
c.2198T>A (p.Leu733Gln)
n.330-4227A>T
6g.33441708T>CCA363623840SYNGAP1,SYNGAP1-AS1c.1985T>C (p.Leu662Pro)
c.2243T>C (p.Leu748Pro)
c.*640T>C (n.*640T>C)
c.2066T>C (p.Leu689Pro)
c.2198T>C (p.Leu733Pro)
n.330-4227A>G
 dbSNP gnomAD v3 gnomAD v4
6g.33441708T>GCA137071674SYNGAP1,SYNGAP1-AS1c.1985T>G (p.Leu662Arg)
c.2243T>G (p.Leu748Arg)
c.*640T>G (n.*640T>G)
c.2066T>G (p.Leu689Arg)
c.2198T>G (p.Leu733Arg)
n.330-4227A>C
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.33441708T=CA1620013914SYNGAP1,SYNGAP1-AS1c.1985T= (p.Leu662=)
c.2243T= (p.Leu748=)
c.*640T= (n.*640T=)
c.2066T= (p.Leu689=)
c.2198T= (p.Leu733=)
n.330-4227A=
6g.33441709G>ACA450103639SYNGAP1,SYNGAP1-AS1c.1986G>A (p.Leu662=)
c.2244G>A (p.Leu748=)
c.*641G>A (n.*641G>A)
c.2067G>A (p.Leu689=)
c.2199G>A (p.Leu733=)
n.330-4228C>T
 gnomAD v4
6g.33441709G>CCA450103641SYNGAP1,SYNGAP1-AS1c.1986G>C (p.Leu662=)
c.2244G>C (p.Leu748=)
c.*641G>C (n.*641G>C)
c.2067G>C (p.Leu689=)
c.2199G>C (p.Leu733=)
n.330-4228C>G
6g.33441709G>TCA450103640SYNGAP1,SYNGAP1-AS1c.1986G>T (p.Leu662=)
c.2244G>T (p.Leu748=)
c.*641G>T (n.*641G>T)
c.2067G>T (p.Leu689=)
c.2199G>T (p.Leu733=)
n.330-4228C>A
6g.33441710C>ACA450103642SYNGAP1,SYNGAP1-AS1c.1987C>A (p.Arg663=)
c.2245C>A (p.Arg749=)
c.*642C>A (n.*642C>A)
c.2068C>A (p.Arg690=)
c.2200C>A (p.Arg734=)
n.330-4229G>T
6g.33441710C=CA1620013915SYNGAP1,SYNGAP1-AS1c.1987C= (p.Arg663=)
c.2245C= (p.Arg749=)
c.*642C= (n.*642C=)
c.2068C= (p.Arg690=)
c.2200C= (p.Arg734=)
n.330-4229G=
6g.33441710C>GCA363623845SYNGAP1,SYNGAP1-AS1c.1987C>G (p.Arg663Gly)
c.2245C>G (p.Arg749Gly)
c.*642C>G (n.*642C>G)
c.2068C>G (p.Arg690Gly)
c.2200C>G (p.Arg734Gly)
n.330-4229G>C
6g.33441710C>TCA363623848SYNGAP1,SYNGAP1-AS1c.1987C>T (p.Arg663Trp)
c.2245C>T (p.Arg749Trp)
c.*642C>T (n.*642C>T)
c.2068C>T (p.Arg690Trp)
c.2200C>T (p.Arg734Trp)
n.330-4229G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
6g.33441711G>ACA363623851SYNGAP1,SYNGAP1-AS1c.1988G>A (p.Arg663Gln)
c.2246G>A (p.Arg749Gln)
n.1G>A
c.*643G>A (n.*643G>A)
c.2069G>A (p.Arg690Gln)
c.2201G>A (p.Arg734Gln)
n.330-4230C>T
 ClinVar dbSNP gnomAD v4
6g.33441711G>CCA363623856SYNGAP1,SYNGAP1-AS1c.1988G>C (p.Arg663Pro)
c.2246G>C (p.Arg749Pro)
n.1G>C
c.*643G>C (n.*643G>C)
c.2069G>C (p.Arg690Pro)
c.2201G>C (p.Arg734Pro)
n.330-4230C>G
6g.33441711G=CA1620013916SYNGAP1,SYNGAP1-AS1c.1988G= (p.Arg663=)
c.2246G= (p.Arg749=)
n.1G=
c.*643G= (n.*643G=)
c.2069G= (p.Arg690=)
c.2201G= (p.Arg734=)
n.330-4230C=
6g.33441711G>TCA363623853SYNGAP1,SYNGAP1-AS1c.1988G>T (p.Arg663Leu)
c.2246G>T (p.Arg749Leu)
n.1G>T
c.*643G>T (n.*643G>T)
c.2069G>T (p.Arg690Leu)
c.2201G>T (p.Arg734Leu)
n.330-4230C>A
6g.33441715dupCA1139659321SYNGAP1,SYNGAP1-AS1c.1992dup (p.Pro665AlafsTer4)
c.2250dup (p.Pro751AlafsTer4)
n.5dup
c.*647dup (n.*647dup)
c.2073dup (p.Pro692AlafsTer4)
c.2205dup (p.Pro736AlafsTer4)
n.330-4230dup
 ClinVar dbSNP
6g.33441712G>ACA450103643SYNGAP1,SYNGAP1-AS1c.1989G>A (p.Arg663=)
c.2247G>A (p.Arg749=)
n.2G>A
c.*644G>A (n.*644G>A)
c.2070G>A (p.Arg690=)
c.2202G>A (p.Arg734=)
n.330-4231C>T
6g.33441712G>CCA450103644SYNGAP1,SYNGAP1-AS1c.1989G>C (p.Arg663=)
c.2247G>C (p.Arg749=)
n.2G>C
c.*644G>C (n.*644G>C)
c.2070G>C (p.Arg690=)
c.2202G>C (p.Arg734=)
n.330-4231C>G
6g.33441712G>TCA450103645SYNGAP1,SYNGAP1-AS1c.1989G>T (p.Arg663=)
c.2247G>T (p.Arg749=)
n.2G>T
c.*644G>T (n.*644G>T)
c.2070G>T (p.Arg690=)
c.2202G>T (p.Arg734=)
n.330-4231C>A
6g.33441713G>ACA363623858SYNGAP1,SYNGAP1-AS1c.1990G>A (p.Gly664Arg)
c.2248G>A (p.Gly750Arg)
n.3G>A
c.*645G>A (n.*645G>A)
c.2071G>A (p.Gly691Arg)
c.2203G>A (p.Gly735Arg)
n.330-4232C>T
 gnomAD v4
6g.33441713G>CCA363623863SYNGAP1,SYNGAP1-AS1c.1990G>C (p.Gly664Arg)
c.2248G>C (p.Gly750Arg)
n.3G>C
c.*645G>C (n.*645G>C)
c.2071G>C (p.Gly691Arg)
c.2203G>C (p.Gly735Arg)
n.330-4232C>G
6g.33441713G>TCA363623860SYNGAP1,SYNGAP1-AS1c.1990G>T (p.Gly664Trp)
c.2248G>T (p.Gly750Trp)
n.3G>T
c.*645G>T (n.*645G>T)
c.2071G>T (p.Gly691Trp)
c.2203G>T (p.Gly735Trp)
n.330-4232C>A
6g.33441714G>ACA363623865SYNGAP1,SYNGAP1-AS1c.1991G>A (p.Gly664Glu)
c.2249G>A (p.Gly750Glu)
n.4G>A
c.*646G>A (n.*646G>A)
c.2072G>A (p.Gly691Glu)
c.2204G>A (p.Gly735Glu)
n.330-4233C>T
 ClinVar dbSNP
6g.33441714G>CCA363623867SYNGAP1,SYNGAP1-AS1c.1991G>C (p.Gly664Ala)
c.2249G>C (p.Gly750Ala)
n.4G>C
c.*646G>C (n.*646G>C)
c.2072G>C (p.Gly691Ala)
c.2204G>C (p.Gly735Ala)
n.330-4233C>G
6g.33441714G>TCA363623868SYNGAP1,SYNGAP1-AS1c.1991G>T (p.Gly664Val)
c.2249G>T (p.Gly750Val)
n.4G>T
c.*646G>T (n.*646G>T)
c.2072G>T (p.Gly691Val)
c.2204G>T (p.Gly735Val)
n.330-4233C>A
6g.33441715G>ACA450103646SYNGAP1,SYNGAP1-AS1c.1992G>A (p.Gly664=)
c.2250G>A (p.Gly750=)
n.5G>A
c.*647G>A (n.*647G>A)
c.2073G>A (p.Gly691=)
c.2205G>A (p.Gly735=)
n.330-4234C>T
 dbSNP gnomAD v2 gnomAD v4
6g.33441715G>CCA450103648SYNGAP1,SYNGAP1-AS1c.1992G>C (p.Gly664=)
c.2250G>C (p.Gly750=)
n.5G>C
c.*647G>C (n.*647G>C)
c.2073G>C (p.Gly691=)
c.2205G>C (p.Gly735=)
n.330-4234C>G
 dbSNP
6g.33441715G=CA1620013917SYNGAP1,SYNGAP1-AS1c.1992G= (p.Gly664=)
c.2250G= (p.Gly750=)
n.5G=
c.*647G= (n.*647G=)
c.2073G= (p.Gly691=)
c.2205G= (p.Gly735=)
n.330-4234C=
6g.33441715G>TCA450103647SYNGAP1,SYNGAP1-AS1c.1992G>T (p.Gly664=)
c.2250G>T (p.Gly750=)
n.5G>T
c.*647G>T (n.*647G>T)
c.2073G>T (p.Gly691=)
c.2205G>T (p.Gly735=)
n.330-4234C>A
 dbSNP gnomAD v2 gnomAD v4
6g.33441716C>ACA363623869SYNGAP1,SYNGAP1-AS1c.1993C>A (p.Pro665Thr)
c.2251C>A (p.Pro751Thr)
n.6C>A
c.*648C>A (n.*648C>A)
c.2074C>A (p.Pro692Thr)
c.2206C>A (p.Pro736Thr)
n.330-4235G>T
6g.33441716C>GCA363623871SYNGAP1,SYNGAP1-AS1c.1993C>G (p.Pro665Ala)
c.2251C>G (p.Pro751Ala)
n.6C>G
c.*648C>G (n.*648C>G)
c.2074C>G (p.Pro692Ala)
c.2206C>G (p.Pro736Ala)
n.330-4235G>C
6g.33441716C>TCA363623874SYNGAP1,SYNGAP1-AS1c.1993C>T (p.Pro665Ser)
c.2251C>T (p.Pro751Ser)
n.6C>T
c.*648C>T (n.*648C>T)
c.2074C>T (p.Pro692Ser)
c.2206C>T (p.Pro736Ser)
n.330-4235G>A
6g.33441717C>ACA363623877SYNGAP1,SYNGAP1-AS1c.1994C>A (p.Pro665Gln)
c.2252C>A (p.Pro751Gln)
n.7C>A
c.*649C>A (n.*649C>A)
c.2075C>A (p.Pro692Gln)
c.2207C>A (p.Pro736Gln)
n.330-4236G>T
6g.33441717C>GCA363623878SYNGAP1,SYNGAP1-AS1c.1994C>G (p.Pro665Arg)
c.2252C>G (p.Pro751Arg)
n.7C>G
c.*649C>G (n.*649C>G)
c.2075C>G (p.Pro692Arg)
c.2207C>G (p.Pro736Arg)
n.330-4236G>C
 gnomAD v4
6g.33441717C>TCA363623879SYNGAP1,SYNGAP1-AS1c.1994C>T (p.Pro665Leu)
c.2252C>T (p.Pro751Leu)
n.7C>T
c.*649C>T (n.*649C>T)
c.2075C>T (p.Pro692Leu)
c.2207C>T (p.Pro736Leu)
n.330-4236G>A
6g.33441718A=CA1620013918SYNGAP1,SYNGAP1-AS1c.1995A= (p.Pro665=)
c.2253A= (p.Pro751=)
n.8A=
c.*650A= (n.*650A=)
c.2076A= (p.Pro692=)
c.2208A= (p.Pro736=)
n.330-4237T=
6g.33441718A>CCA450103649SYNGAP1,SYNGAP1-AS1c.1995A>C (p.Pro665=)
c.2253A>C (p.Pro751=)
n.8A>C
c.*650A>C (n.*650A>C)
c.2076A>C (p.Pro692=)
c.2208A>C (p.Pro736=)
n.330-4237T>G
6g.33441718A>GCA450103650SYNGAP1,SYNGAP1-AS1c.1995A>G (p.Pro665=)
c.2253A>G (p.Pro751=)
n.8A>G
c.*650A>G (n.*650A>G)
c.2076A>G (p.Pro692=)
c.2208A>G (p.Pro736=)
n.330-4237T>C
 dbSNP gnomAD v2 gnomAD v4
6g.33441718A>TCA450103651SYNGAP1,SYNGAP1-AS1c.1995A>T (p.Pro665=)
c.2253A>T (p.Pro751=)
n.8A>T
c.*650A>T (n.*650A>T)
c.2076A>T (p.Pro692=)
c.2208A>T (p.Pro736=)
n.330-4237T>A
6g.33441719T>ACA363623881SYNGAP1,SYNGAP1-AS1c.1996T>A (p.Ser666Thr)
c.2254T>A (p.Ser752Thr)
n.9T>A
c.*651T>A (n.*651T>A)
c.2077T>A (p.Ser693Thr)
c.2209T>A (p.Ser737Thr)
n.330-4238A>T
6g.33441719T>CCA363623883SYNGAP1,SYNGAP1-AS1c.1996T>C (p.Ser666Pro)
c.2254T>C (p.Ser752Pro)
n.9T>C
c.*651T>C (n.*651T>C)
c.2077T>C (p.Ser693Pro)
c.2209T>C (p.Ser737Pro)
n.330-4238A>G
6g.33441719T>GCA363623885SYNGAP1,SYNGAP1-AS1c.1996T>G (p.Ser666Ala)
c.2254T>G (p.Ser752Ala)
n.9T>G
c.*651T>G (n.*651T>G)
c.2077T>G (p.Ser693Ala)
c.2209T>G (p.Ser737Ala)
n.330-4238A>C
6g.33441720C>ACA363623887SYNGAP1,SYNGAP1-AS1c.1997C>A (p.Ser666Ter)
c.2255C>A (p.Ser752Ter)
n.10C>A
c.*652C>A (n.*652C>A)
c.2078C>A (p.Ser693Ter)
c.2210C>A (p.Ser737Ter)
n.330-4239G>T
 dbSNP
6g.33441720C=CA1620013919SYNGAP1,SYNGAP1-AS1c.1997C= (p.Ser666=)
c.2255C= (p.Ser752=)
n.10C=
c.*652C= (n.*652C=)
c.2078C= (p.Ser693=)
c.2210C= (p.Ser737=)
n.330-4239G=
6g.33441720C>GCA363623890SYNGAP1,SYNGAP1-AS1c.1997C>G (p.Ser666Trp)
c.2255C>G (p.Ser752Trp)
n.10C>G
c.*652C>G (n.*652C>G)
c.2078C>G (p.Ser693Trp)
c.2210C>G (p.Ser737Trp)
n.330-4239G>C
 dbSNP
6g.33441720C>TCA363623888SYNGAP1,SYNGAP1-AS1c.1997C>T (p.Ser666Leu)
c.2255C>T (p.Ser752Leu)
n.10C>T
c.*652C>T (n.*652C>T)
c.2078C>T (p.Ser693Leu)
c.2210C>T (p.Ser737Leu)
n.330-4239G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
6g.33441721G>ACA3758816SYNGAP1,SYNGAP1-AS1c.1998G>A (p.Ser666=)
c.2256G>A (p.Ser752=)
n.11G>A
c.*653G>A (n.*653G>A)
c.2079G>A (p.Ser693=)
c.2211G>A (p.Ser737=)
n.330-4240C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.33441721G>CCA450103652SYNGAP1,SYNGAP1-AS1c.1998G>C (p.Ser666=)
c.2256G>C (p.Ser752=)
n.11G>C
c.*653G>C (n.*653G>C)
c.2079G>C (p.Ser693=)
c.2211G>C (p.Ser737=)
n.330-4240C>G
 gnomAD v4
6g.33441721G=CA1620013920SYNGAP1,SYNGAP1-AS1c.1998G= (p.Ser666=)
c.2256G= (p.Ser752=)
n.11G=
c.*653G= (n.*653G=)
c.2079G= (p.Ser693=)
c.2211G= (p.Ser737=)
n.330-4240C=
6g.33441721G>TCA450103653SYNGAP1,SYNGAP1-AS1c.1998G>T (p.Ser666=)
c.2256G>T (p.Ser752=)
n.11G>T
c.*653G>T (n.*653G>T)
c.2079G>T (p.Ser693=)
c.2211G>T (p.Ser737=)
n.330-4240C>A

Number of alleles fetched