Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.33441614C>A | CA363623117 | SYNGAP1,SYNGAP1-AS1 | c.1891C>A (p.Leu631Ile) c.2149C>A (p.Leu717Ile) c.*546C>A (n.*546C>A) c.1972C>A (p.Leu658Ile) c.2104C>A (p.Leu702Ile) n.330-4133G>T | |
6 | g.33441614C>G | CA363623119 | SYNGAP1,SYNGAP1-AS1 | c.1891C>G (p.Leu631Val) c.2149C>G (p.Leu717Val) c.*546C>G (n.*546C>G) c.1972C>G (p.Leu658Val) c.2104C>G (p.Leu702Val) n.330-4133G>C | |
6 | g.33441614C>T | CA363623121 | SYNGAP1,SYNGAP1-AS1 | c.1891C>T (p.Leu631Phe) c.2149C>T (p.Leu717Phe) c.*546C>T (n.*546C>T) c.1972C>T (p.Leu658Phe) c.2104C>T (p.Leu702Phe) n.330-4133G>A | COSMIC COSMIC |
6 | g.33441615T>A | CA363623131 | SYNGAP1,SYNGAP1-AS1 | c.1892T>A (p.Leu631His) c.2150T>A (p.Leu717His) c.*547T>A (n.*547T>A) c.1973T>A (p.Leu658His) c.2105T>A (p.Leu702His) n.330-4134A>T | |
6 | g.33441615T>C | CA363623145 | SYNGAP1,SYNGAP1-AS1 | c.1892T>C (p.Leu631Pro) c.2150T>C (p.Leu717Pro) c.*547T>C (n.*547T>C) c.1973T>C (p.Leu658Pro) c.2105T>C (p.Leu702Pro) n.330-4134A>G | |
6 | g.33441615T>G | CA363623147 | SYNGAP1,SYNGAP1-AS1 | c.1892T>G (p.Leu631Arg) c.2150T>G (p.Leu717Arg) c.*547T>G (n.*547T>G) c.1973T>G (p.Leu658Arg) c.2105T>G (p.Leu702Arg) n.330-4134A>C | |
6 | g.33441616C>A | CA450103573 | SYNGAP1,SYNGAP1-AS1 | c.1893C>A (p.Leu631=) c.2151C>A (p.Leu717=) c.*548C>A (n.*548C>A) c.1974C>A (p.Leu658=) c.2106C>A (p.Leu702=) n.330-4135G>T | |
6 | g.33441616C= | CA1620013881 | SYNGAP1,SYNGAP1-AS1 | c.1893C= (p.Leu631=) c.2151C= (p.Leu717=) c.*548C= (n.*548C=) c.1974C= (p.Leu658=) c.2106C= (p.Leu702=) n.330-4135G= | |
6 | g.33441616C>G | CA450103574 | SYNGAP1,SYNGAP1-AS1 | c.1893C>G (p.Leu631=) c.2151C>G (p.Leu717=) c.*548C>G (n.*548C>G) c.1974C>G (p.Leu658=) c.2106C>G (p.Leu702=) n.330-4135G>C | dbSNP |
6 | g.33441616C>T | CA450103575 | SYNGAP1,SYNGAP1-AS1 | c.1893C>T (p.Leu631=) c.2151C>T (p.Leu717=) c.*548C>T (n.*548C>T) c.1974C>T (p.Leu658=) c.2106C>T (p.Leu702=) n.330-4135G>A | ClinVar |
6 | g.33441617C>A | CA363623151 | SYNGAP1,SYNGAP1-AS1 | c.1894C>A (p.Leu632Ile) c.2152C>A (p.Leu718Ile) c.*549C>A (n.*549C>A) c.1975C>A (p.Leu659Ile) c.2107C>A (p.Leu703Ile) n.330-4136G>T | |
6 | g.33441617C>G | CA363623155 | SYNGAP1,SYNGAP1-AS1 | c.1894C>G (p.Leu632Val) c.2152C>G (p.Leu718Val) c.*549C>G (n.*549C>G) c.1975C>G (p.Leu659Val) c.2107C>G (p.Leu703Val) n.330-4136G>C | |
6 | g.33441617C>T | CA363623158 | SYNGAP1,SYNGAP1-AS1 | c.1894C>T (p.Leu632Phe) c.2152C>T (p.Leu718Phe) c.*549C>T (n.*549C>T) c.1975C>T (p.Leu659Phe) c.2107C>T (p.Leu703Phe) n.330-4136G>A | |
6 | g.33441618T>A | CA363623160 | SYNGAP1,SYNGAP1-AS1 | c.1895T>A (p.Leu632His) c.2153T>A (p.Leu718His) c.*550T>A (n.*550T>A) c.1976T>A (p.Leu659His) c.2108T>A (p.Leu703His) n.330-4137A>T | |
6 | g.33441618T>C | CA363623162 | SYNGAP1,SYNGAP1-AS1 | c.1895T>C (p.Leu632Pro) c.2153T>C (p.Leu718Pro) c.*550T>C (n.*550T>C) c.1976T>C (p.Leu659Pro) c.2108T>C (p.Leu703Pro) n.330-4137A>G | |
6 | g.33441618T>G | CA363623166 | SYNGAP1,SYNGAP1-AS1 | c.1895T>G (p.Leu632Arg) c.2153T>G (p.Leu718Arg) c.*550T>G (n.*550T>G) c.1976T>G (p.Leu659Arg) c.2108T>G (p.Leu703Arg) n.330-4137A>C | |
6 | g.33441619C>A | CA450103576 | SYNGAP1,SYNGAP1-AS1 | c.1896C>A (p.Leu632=) c.2154C>A (p.Leu718=) c.*551C>A (n.*551C>A) c.1977C>A (p.Leu659=) c.2109C>A (p.Leu703=) n.330-4138G>T | |
6 | g.33441619C>G | CA450103577 | SYNGAP1,SYNGAP1-AS1 | c.1896C>G (p.Leu632=) c.2154C>G (p.Leu718=) c.*551C>G (n.*551C>G) c.1977C>G (p.Leu659=) c.2109C>G (p.Leu703=) n.330-4138G>C | |
6 | g.33441619C>T | CA450103578 | SYNGAP1,SYNGAP1-AS1 | c.1896C>T (p.Leu632=) c.2154C>T (p.Leu718=) c.*551C>T (n.*551C>T) c.1977C>T (p.Leu659=) c.2109C>T (p.Leu703=) n.330-4138G>A | gnomAD v4 |
6 | g.33441620A>C | CA363623185 | SYNGAP1,SYNGAP1-AS1 | c.1897A>C (p.Asn633His) c.2155A>C (p.Asn719His) c.*552A>C (n.*552A>C) c.1978A>C (p.Asn660His) c.2110A>C (p.Asn704His) n.330-4139T>G | |
6 | g.33441620A>G | CA363623187 | SYNGAP1,SYNGAP1-AS1 | c.1897A>G (p.Asn633Asp) c.2155A>G (p.Asn719Asp) c.*552A>G (n.*552A>G) c.1978A>G (p.Asn660Asp) c.2110A>G (p.Asn704Asp) n.330-4139T>C | |
6 | g.33441620A>T | CA363623172 | SYNGAP1,SYNGAP1-AS1 | c.1897A>T (p.Asn633Tyr) c.2155A>T (p.Asn719Tyr) c.*552A>T (n.*552A>T) c.1978A>T (p.Asn660Tyr) c.2110A>T (p.Asn704Tyr) n.330-4139T>A | |
6 | g.33441621A= | CA1620013882 | SYNGAP1,SYNGAP1-AS1 | c.1898A= (p.Asn633=) c.2156A= (p.Asn719=) c.*553A= (n.*553A=) c.1979A= (p.Asn660=) c.2111A= (p.Asn704=) n.330-4140T= | |
6 | g.33441621A>C | CA363623191 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33441621A>G | CA363623192 | SYNGAP1,SYNGAP1-AS1 | c.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 |
6 | g.33441621A>T | CA363623193 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33441622C>A | CA363623199 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33441622C= | CA1620013883 | SYNGAP1,SYNGAP1-AS1 | c.1899C= (p.Asn633=) c.2157C= (p.Asn719=) c.*554C= (n.*554C=) c.1980C= (p.Asn660=) c.2112C= (p.Asn704=) n.330-4141G= | |
6 | g.33441622C>G | CA363623202 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33441622C>T | CA3758806 | SYNGAP1,SYNGAP1-AS1 | c.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 |
6 | g.33441623G>A | CA363623222 | SYNGAP1,SYNGAP1-AS1 | c.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 |
6 | g.33441623G>C | CA363623226 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33441623G>T | CA363623225 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33441624A>C | CA363623231 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33441624A>G | CA363623238 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33441624A>T | CA363623240 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33441625C>A | CA363623251 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33441625C>G | CA363623257 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33441625C>T | CA450103579 | SYNGAP1,SYNGAP1-AS1 | c.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 |
6 | g.33441626A>C | CA363623264 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33441626A>G | CA363623268 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33441626A>T | CA363623262 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33441627T>A | CA363623281 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33441627T>C | CA363623278 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33441627T>G | CA363623287 | SYNGAP1,SYNGAP1-AS1 | c.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 |
6 | g.33441627T= | CA1620013884 | SYNGAP1,SYNGAP1-AS1 | c.1904T= (p.Ile635=) c.2162T= (p.Ile721=) c.*559T= (n.*559T=) c.1985T= (p.Ile662=) c.2117T= (p.Ile706=) n.330-4146A= | |
6 | g.33441628C>A | CA450103582 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33441628C>G | CA363623289 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33441628C>T | CA450103581 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33441629A= | CA1620013885 | SYNGAP1,SYNGAP1-AS1 | c.1906A= (p.Ser636=) c.2164A= (p.Ser722=) c.*561A= (n.*561A=) c.1987A= (p.Ser663=) c.2119A= (p.Ser707=) n.330-4148T= | |
6 | g.33441629A>C | CA363623303 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33441629A>G | CA363623292 | SYNGAP1,SYNGAP1-AS1 | c.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 |
6 | g.33441629A>T | CA363623294 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33441630G>A | CA363623306 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33441630G>C | CA363623307 | SYNGAP1,SYNGAP1-AS1 | c.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 |
6 | g.33441630G>T | CA363623308 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33441631C>A | CA363623309 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33441631C>G | CA363623312 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33441631C>T | CA450103584 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33441632A>C | CA363623322 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33441632A>G | CA363623327 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33441632A>T | CA363623334 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33441633C>A | CA363623355 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33441633C= | CA1620013886 | SYNGAP1,SYNGAP1-AS1 | c.1910C= (p.Thr637=) c.2168C= (p.Thr723=) c.*565C= (n.*565C=) c.1991C= (p.Thr664=) c.2123C= (p.Thr708=) n.330-4152G= | |
6 | g.33441633C>G | CA363623358 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33441633C>T | CA3758807 | SYNGAP1,SYNGAP1-AS1 | c.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 |
6 | g.33441634A= | CA1620013887 | SYNGAP1,SYNGAP1-AS1 | c.1911A= (p.Thr637=) c.2169A= (p.Thr723=) c.*566A= (n.*566A=) c.1992A= (p.Thr664=) c.2124A= (p.Thr708=) n.330-4153T= | |
6 | g.33441634A>C | CA450103587 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33441634A>G | CA450103585 | SYNGAP1,SYNGAP1-AS1 | c.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 |
6 | g.33441634A>T | CA450103586 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33441635G>A | CA363623364 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33441635G>C | CA363623369 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33441635G>T | CA363623367 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33441636C>A | CA363623374 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33441636C>G | CA363623385 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33441636C>T | CA363623387 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33441637T>A | CA450103588 | SYNGAP1,SYNGAP1-AS1 | c.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 |
6 | g.33441637T>C | CA450103590 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33441637T>G | CA450103591 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33441638C>A | CA363623391 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33441638C>G | CA363623394 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33441638C>T | CA450103592 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33441639T>A | CA363623403 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33441639T>C | CA363623408 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33441639T>G | CA363623410 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33441640G>A | CA450103593 | SYNGAP1,SYNGAP1-AS1 | c.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 |
6 | g.33441640G>C | CA450103594 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33441640G>T | CA450103595 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33441641A>C | CA450103596 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33441641A>G | CA363623414 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33441641A>T | CA363623417 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33441642_33441645del | CA2695202909 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33441642G>A | CA363623424 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33441642G>C | CA363623429 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33441642G>T | CA363623421 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33441643G>A | CA450103597 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33441643G>C | CA363623432 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33441643G>T | CA363623438 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33441643_33441644delinsTT | CA2580074412 | SYNGAP1,SYNGAP1-AS1 | c.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 |
6 | g.33441644A>C | CA363623442 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33441644A>G | CA363623446 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33441644A>T | CA363623448 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33441645A>C | CA363623451 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33441645A>G | CA363623452 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33441645A>T | CA363623453 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33441646C>A | CA363623455 | SYNGAP1,SYNGAP1-AS1 | c.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 |
6 | g.33441646C>G | CA363623456 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33441646C>T | CA450103598 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33441649del | CA2695202910 | SYNGAP1,SYNGAP1-AS1 | c.1926del (p.Asn643ThrfsTer?) c.2184del (p.Asn729ThrfsTer?) c.*581del (n.*581del) c.2007del (p.Asn670ThrfsTer?) c.2139del (p.Asn714ThrfsTer?) n.330-4165del | |
6 | g.33441647C>A | CA363623459 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33441647C>G | CA363623461 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33441647C>T | CA363623463 | SYNGAP1,SYNGAP1-AS1 | c.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 |
6 | g.33441648C>A | CA363623477 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33441648C>G | CA363623474 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33441648C>T | CA363623469 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33441649C>A | CA450103599 | SYNGAP1,SYNGAP1-AS1 | c.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 |
6 | g.33441649C= | CA1620013888 | SYNGAP1,SYNGAP1-AS1 | c.1926C= (p.Pro642=) c.2184C= (p.Pro728=) c.*581C= (n.*581C=) c.2007C= (p.Pro669=) c.2139C= (p.Pro713=) n.330-4168G= | |
6 | g.33441649C>G | CA450103600 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33441649C>T | CA3758808 | SYNGAP1,SYNGAP1-AS1 | c.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 |
6 | g.33441650A>C | CA363623490 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33441650A>G | CA363623491 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33441650A>T | CA363623492 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33441651A= | CA1620013889 | SYNGAP1,SYNGAP1-AS1 | c.1928A= (p.Asn643=) c.2186A= (p.Asn729=) c.*583A= (n.*583A=) c.2009A= (p.Asn670=) c.2141A= (p.Asn714=) n.330-4170T= | |
6 | g.33441651A>C | CA137071630 | SYNGAP1,SYNGAP1-AS1 | c.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 |
6 | g.33441651A>G | CA363623493 | SYNGAP1,SYNGAP1-AS1 | c.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 |
6 | g.33441651A>T | CA3758809 | SYNGAP1,SYNGAP1-AS1 | c.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 |
6 | g.33441652C>A | CA363623498 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33441652C>G | CA363623502 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33441652C>T | CA450103601 | SYNGAP1,SYNGAP1-AS1 | c.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 |
6 | g.33441653A>C | CA363623506 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33441653A>G | CA363623509 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33441653A>T | CA363623515 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33441654T>A | CA363623525 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33441654T>C | CA363623524 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33441654T>G | CA363623518 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33441655C>A | CA450103602 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33441655C>G | CA363623528 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33441655C>T | CA450103603 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33441656C>A | CA363623533 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33441656C= | CA1620013890 | SYNGAP1,SYNGAP1-AS1 | c.1933C= (p.Gln645=) c.2191C= (p.Gln731=) c.*588C= (n.*588C=) c.2014C= (p.Gln672=) c.2146C= (p.Gln716=) n.330-4175G= | |
6 | g.33441656C>G | CA363623535 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33441656C>T | CA363623546 | SYNGAP1,SYNGAP1-AS1 | c.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 |
6 | g.33441657A>C | CA363623551 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33441657A>G | CA363623553 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33441657A>T | CA363623557 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33441658A>C | CA363623564 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33441658A>G | CA450103604 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33441658A>T | CA363623566 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33441659A>C | CA450103605 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33441659A>G | CA363623571 | SYNGAP1,SYNGAP1-AS1 | c.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 |
6 | g.33441659A>T | CA363623574 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33441660G>A | CA137071631 | SYNGAP1,SYNGAP1-AS1 | c.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 |
6 | g.33441660G>C | CA363623577 | SYNGAP1,SYNGAP1-AS1 | c.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 |
6 | g.33441660G= | CA1620013891 | SYNGAP1,SYNGAP1-AS1 | c.1937G= (p.Arg646=) c.2195G= (p.Arg732=) c.*592G= (n.*592G=) c.2018G= (p.Arg673=) c.2150G= (p.Arg717=) n.330-4179C= | |
6 | g.33441660G>T | CA363623579 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33441661G>A | CA450103606 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33441661G>C | CA363623581 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33441661G>T | CA363623580 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33441662C>A | CA363623583 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33441662C= | CA1620013892 | SYNGAP1,SYNGAP1-AS1 | c.1939C= (p.Gln647=) c.2197C= (p.Gln733=) c.*594C= (n.*594C=) c.2020C= (p.Gln674=) c.2152C= (p.Gln718=) n.330-4181G= | |
6 | g.33441662C>G | CA363623586 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33441662C>T | CA363623588 | SYNGAP1,SYNGAP1-AS1 | c.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 |
6 | g.33441663A>C | CA363623592 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33441663A>G | CA363623594 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33441663A>T | CA363623596 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33441664G>A | CA450103607 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33441664G>C | CA363623604 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33441664G>T | CA363623603 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33441665C>A | CA363623608 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33441665C= | CA1620013893 | SYNGAP1,SYNGAP1-AS1 | c.1942C= (p.Pro648=) c.2200C= (p.Pro734=) c.*597C= (n.*597C=) c.2023C= (p.Pro675=) c.2155C= (p.Pro719=) n.330-4184G= | |
6 | g.33441665C>G | CA363623611 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33441665C>T | CA3758810 | SYNGAP1,SYNGAP1-AS1 | c.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 |
6 | g.33441666C>A | CA363623616 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33441666C>G | CA363623619 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33441666C>T | CA363623620 | SYNGAP1,SYNGAP1-AS1 | c.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 |
6 | g.33441667A= | CA1620013894 | SYNGAP1,SYNGAP1-AS1 | c.1944A= (p.Pro648=) c.2202A= (p.Pro734=) c.*599A= (n.*599A=) c.2025A= (p.Pro675=) c.2157A= (p.Pro719=) n.330-4186T= | |
6 | g.33441667A>C | CA137071634 | SYNGAP1,SYNGAP1-AS1 | c.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 |
6 | g.33441667A>G | CA450103608 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33441667A>T | CA450103609 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33441668A>C | CA363623621 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33441668A>G | CA363623625 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33441668A>T | CA363623623 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33441669G>A | CA363623628 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33441669G>C | CA363623629 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33441669G>T | CA363623631 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33441669_33441673del | CA2770572153 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33441670C>A | CA363623633 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33441670C>G | CA363623634 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33441670C>T | CA450103610 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33441671C>A | CA363623652 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33441671C= | CA1620013895 | SYNGAP1,SYNGAP1-AS1 | c.1948C= (p.Arg650=) c.2206C= (p.Arg736=) c.*603C= (n.*603C=) c.2029C= (p.Arg677=) c.2161C= (p.Arg721=) n.330-4190G= | |
6 | g.33441671C>G | CA363623639 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33441671C>T | CA363623638 | SYNGAP1,SYNGAP1-AS1 | c.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 |
6 | g.33441672G>A | CA137071636 | SYNGAP1,SYNGAP1-AS1 | c.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 |
6 | g.33441672G>C | CA363623654 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33441672G= | CA1620013896 | SYNGAP1,SYNGAP1-AS1 | c.1949G= (p.Arg650=) c.2207G= (p.Arg736=) c.*604G= (n.*604G=) c.2030G= (p.Arg677=) c.2162G= (p.Arg721=) n.330-4191C= | |
6 | g.33441672G>T | CA363623656 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33441673C>A | CA450103611 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33441673C>G | CA450103612 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33441673C>T | CA450103613 | SYNGAP1,SYNGAP1-AS1 | c.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 |
6 | g.33441674C>A | CA363623659 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33441674C= | CA1620013897 | SYNGAP1,SYNGAP1-AS1 | c.1951C= (p.Gln651=) c.2209C= (p.Gln737=) c.*606C= (n.*606C=) c.2032C= (p.Gln678=) c.2164C= (p.Gln722=) n.330-4193G= | |
6 | g.33441674C>G | CA363623661 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33441674C>T | CA363623663 | SYNGAP1,SYNGAP1-AS1 | c.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 |
6 | g.33441675A= | CA1620013898 | SYNGAP1,SYNGAP1-AS1 | c.1952A= (p.Gln651=) c.2210A= (p.Gln737=) c.*607A= (n.*607A=) c.2033A= (p.Gln678=) c.2165A= (p.Gln722=) n.330-4194T= | |
6 | g.33441675A>C | CA363623666 | SYNGAP1,SYNGAP1-AS1 | c.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 |
6 | g.33441675A>G | CA363623673 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33441675A>T | CA363623672 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33441677_33441678del | CA2695202912 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33441676G>A | CA450103614 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33441676G>C | CA363623674 | SYNGAP1,SYNGAP1-AS1 | c.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 |
6 | g.33441676G= | CA1620013899 | SYNGAP1,SYNGAP1-AS1 | c.1953G= (p.Gln651=) c.2211G= (p.Gln737=) c.*608G= (n.*608G=) c.2034G= (p.Gln678=) c.2166G= (p.Gln722=) n.330-4195C= | |
6 | g.33441676G>T | CA363623676 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33441679_33441682del | CA2695202913 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33441677A>C | CA363623679 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33441677A>G | CA363623683 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33441677A>T | CA363623684 | SYNGAP1,SYNGAP1-AS1 | c.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 |
6 | g.33441678G>A | CA363623685 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33441678G>C | CA363623686 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33441678G>T | CA363623687 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33441679T>A | CA363623689 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33441679T>C | CA450103615 | SYNGAP1,SYNGAP1-AS1 | c.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 |
6 | g.33441679T>G | CA363623691 | SYNGAP1,SYNGAP1-AS1 | c.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 |
6 | g.33441679T= | CA1620013900 | SYNGAP1,SYNGAP1-AS1 | c.1956T= (p.Ser652=) c.2214T= (p.Ser738=) c.*611T= (n.*611T=) c.2037T= (p.Ser679=) c.2169T= (p.Ser723=) n.330-4198A= | |
6 | g.33441680G>A | CA363623699 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33441680G>C | CA363623697 | SYNGAP1,SYNGAP1-AS1 | c.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 |
6 | g.33441680G= | CA1620013901 | SYNGAP1,SYNGAP1-AS1 | c.1957G= (p.Glu653=) c.2215G= (p.Glu739=) c.*612G= (n.*612G=) c.2038G= (p.Glu680=) c.2170G= (p.Glu724=) n.330-4199C= | |
6 | g.33441680G>T | CA363623692 | SYNGAP1,SYNGAP1-AS1 | c.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 |
6 | g.33441681A>C | CA363623701 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33441681A>G | CA363623703 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33441681A>T | CA363623702 | SYNGAP1,SYNGAP1-AS1 | c.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 |
6 | g.33441682G>A | CA450103616 | SYNGAP1,SYNGAP1-AS1 | c.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 |
6 | g.33441682G>C | CA363623704 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33441682G>T | CA363623705 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33441683C>A | CA450103617 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33441683C= | CA1620013902 | SYNGAP1,SYNGAP1-AS1 | c.1960C= (p.Arg654=) c.2218C= (p.Arg740=) c.*615C= (n.*615C=) c.2041C= (p.Arg681=) c.2173C= (p.Arg725=) n.330-4202G= | |
6 | g.33441683C>G | CA363623706 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33441683C>T | CA363623707 | SYNGAP1,SYNGAP1-AS1 | c.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 |
6 | g.33441684G>A | CA363623708 | SYNGAP1,SYNGAP1-AS1 | c.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 |
6 | g.33441684G>C | CA363623709 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33441684G= | CA1620013903 | SYNGAP1,SYNGAP1-AS1 | c.1961G= (p.Arg654=) c.2219G= (p.Arg740=) c.*616G= (n.*616G=) c.2042G= (p.Arg681=) c.2174G= (p.Arg725=) n.330-4203C= | |
6 | g.33441684G>T | CA363623710 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33441685G>A | CA450103618 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33441685G>C | CA450103619 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33441685G>T | CA450103620 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33441686C>A | CA363623711 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33441686C= | CA1620013904 | SYNGAP1,SYNGAP1-AS1 | c.1963C= (p.Pro655=) c.2221C= (p.Pro741=) c.*618C= (n.*618C=) c.2044C= (p.Pro682=) c.2176C= (p.Pro726=) n.330-4205G= | |
6 | g.33441686C>G | CA363623712 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33441686C>T | CA3758811 | SYNGAP1,SYNGAP1-AS1 | c.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 |
6 | g.33441687C>A | CA363623715 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33441687C>G | CA363623716 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33441687C>T | CA363623718 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33441688C>A | CA450103621 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33441688C= | CA1620013905 | SYNGAP1,SYNGAP1-AS1 | c.1965C= (p.Pro655=) c.2223C= (p.Pro741=) c.*620C= (n.*620C=) c.2046C= (p.Pro682=) c.2178C= (p.Pro726=) n.330-4207G= | |
6 | g.33441688C>G | CA3758812 | SYNGAP1,SYNGAP1-AS1 | c.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 |
6 | g.33441688C>T | CA450103622 | SYNGAP1,SYNGAP1-AS1 | c.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 |
6 | g.33441689C>A | CA450103623 | SYNGAP1,SYNGAP1-AS1 | c.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 |
6 | g.33441689C= | CA1620013906 | SYNGAP1,SYNGAP1-AS1 | c.1966C= (p.Arg656=) c.2224C= (p.Arg742=) c.*621C= (n.*621C=) c.2047C= (p.Arg683=) c.2179C= (p.Arg727=) n.330-4208G= | |
6 | g.33441689C>G | CA363623723 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33441689C>T | CA363623725 | SYNGAP1,SYNGAP1-AS1 | c.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 |
6 | g.33441690G>A | CA137071661 | SYNGAP1,SYNGAP1-AS1 | c.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 |
6 | g.33441690G>C | CA363623730 | SYNGAP1,SYNGAP1-AS1 | c.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 |
6 | g.33441690G= | CA1620013907 | SYNGAP1,SYNGAP1-AS1 | c.1967G= (p.Arg656=) c.2225G= (p.Arg742=) c.*622G= (n.*622G=) c.2048G= (p.Arg683=) c.2180G= (p.Arg727=) n.330-4209C= | |
6 | g.33441690G>T | CA363623733 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33441691G>A | CA450103624 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33441691G>C | CA450103625 | SYNGAP1,SYNGAP1-AS1 | c.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 |
6 | g.33441691G= | CA1620013908 | SYNGAP1,SYNGAP1-AS1 | c.1968G= (p.Arg656=) c.2226G= (p.Arg742=) c.*623G= (n.*623G=) c.2049G= (p.Arg683=) c.2181G= (p.Arg727=) n.330-4210C= | |
6 | g.33441691G>T | CA450103626 | SYNGAP1,SYNGAP1-AS1 | c.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 |
6 | g.33441692C>A | CA363623735 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33441692C= | CA1620013909 | SYNGAP1,SYNGAP1-AS1 | c.1969C= (p.Pro657=) c.2227C= (p.Pro743=) c.*624C= (n.*624C=) c.2050C= (p.Pro684=) c.2182C= (p.Pro728=) n.330-4211G= | |
6 | g.33441692C>G | CA363623736 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33441692C>T | CA3758813 | SYNGAP1,SYNGAP1-AS1 | c.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 |
6 | g.33441693C>A | CA363623740 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33441693C>G | CA363623743 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33441693C>T | CA363623744 | SYNGAP1,SYNGAP1-AS1 | c.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 |
6 | g.33441694T>A | CA450103627 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33441694T>C | CA450103628 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33441694T>G | CA450103629 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33441695C>A | CA363623747 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33441695C= | CA1620013910 | SYNGAP1,SYNGAP1-AS1 | c.1972C= (p.Gln658=) c.2230C= (p.Gln744=) c.*627C= (n.*627C=) c.2053C= (p.Gln685=) c.2185C= (p.Gln729=) n.330-4214G= | |
6 | g.33441695C>G | CA363623749 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33441695C>T | CA363623752 | SYNGAP1,SYNGAP1-AS1 | c.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 |
6 | g.33441696A>C | CA363623765 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33441696A>G | CA363623755 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33441696A>T | CA363623758 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33441697G>A | CA450103630 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33441697G>C | CA363623769 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33441697G>T | CA363623773 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33441698C>A | CA363623777 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33441698C>G | CA363623780 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33441698C>T | CA363623782 | SYNGAP1,SYNGAP1-AS1 | c.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 |
6 | g.33441699del | CA2499218226 | SYNGAP1,SYNGAP1-AS1 | c.1976del (p.Pro659LeufsTer15) c.2234del (p.Pro745LeufsTer15) c.*631del (n.*631del) c.2057del (p.Pro686LeufsTer15) c.2189del (p.Pro730LeufsTer15) n.330-4217del | ClinVar dbSNP |
6 | g.33441699C>A | CA363623788 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33441699C>G | CA363623789 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33441699C>T | CA363623792 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33441700T>A | CA450103631 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33441700T>C | CA450103632 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33441700T>G | CA450103633 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33441700_33441703dup | CA2739272899 | SYNGAP1,SYNGAP1-AS1 | c.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 |
6 | g.33441701G>A | CA363623797 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33441701G>C | CA363623802 | SYNGAP1,SYNGAP1-AS1 | c.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 |
6 | g.33441701G>T | CA363623800 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33441702T>A | CA363623805 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33441702T>C | CA363623808 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33441702T>G | CA363623811 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33441703G>A | CA3758814 | SYNGAP1,SYNGAP1-AS1 | c.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 |
6 | g.33441703G>C | CA450103635 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33441703G= | CA1620013911 | SYNGAP1,SYNGAP1-AS1 | c.1980G= (p.Val660=) c.2238G= (p.Val746=) c.*635G= (n.*635G=) c.2061G= (p.Val687=) c.2193G= (p.Val731=) n.330-4222C= | |
6 | g.33441703G>T | CA450103634 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33441704G>A | CA363623813 | SYNGAP1,SYNGAP1-AS1 | c.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 |
6 | g.33441704G>C | CA363623815 | SYNGAP1,SYNGAP1-AS1 | c.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 |
6 | g.33441704G= | CA1620013912 | SYNGAP1,SYNGAP1-AS1 | c.1981G= (p.Val661=) c.2239G= (p.Val747=) c.*636G= (n.*636G=) c.2062G= (p.Val688=) c.2194G= (p.Val732=) n.330-4223C= | |
6 | g.33441704G>T | CA363623814 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33441705T>A | CA363623816 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33441705T>C | CA363623817 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33441705T>G | CA363623820 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33441706A>C | CA450103636 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33441706A>G | CA450103637 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33441706A>T | CA450103638 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33441707C>A | CA363623822 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33441707C= | CA1620013913 | SYNGAP1,SYNGAP1-AS1 | c.1984C= (p.Leu662=) c.2242C= (p.Leu748=) c.*639C= (n.*639C=) c.2065C= (p.Leu689=) c.2197C= (p.Leu733=) n.330-4226G= | |
6 | g.33441707C>G | CA363623831 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33441707C>T | CA3758815 | SYNGAP1,SYNGAP1-AS1 | c.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 |
6 | g.33441708T>A | CA363623838 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33441708T>C | CA363623840 | SYNGAP1,SYNGAP1-AS1 | c.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 |
6 | g.33441708T>G | CA137071674 | SYNGAP1,SYNGAP1-AS1 | c.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 |
6 | g.33441708T= | CA1620013914 | SYNGAP1,SYNGAP1-AS1 | c.1985T= (p.Leu662=) c.2243T= (p.Leu748=) c.*640T= (n.*640T=) c.2066T= (p.Leu689=) c.2198T= (p.Leu733=) n.330-4227A= | |
6 | g.33441709G>A | CA450103639 | SYNGAP1,SYNGAP1-AS1 | c.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 |
6 | g.33441709G>C | CA450103641 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33441709G>T | CA450103640 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33441710C>A | CA450103642 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33441710C= | CA1620013915 | SYNGAP1,SYNGAP1-AS1 | c.1987C= (p.Arg663=) c.2245C= (p.Arg749=) c.*642C= (n.*642C=) c.2068C= (p.Arg690=) c.2200C= (p.Arg734=) n.330-4229G= | |
6 | g.33441710C>G | CA363623845 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33441710C>T | CA363623848 | SYNGAP1,SYNGAP1-AS1 | c.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 |
6 | g.33441711G>A | CA363623851 | SYNGAP1,SYNGAP1-AS1 | c.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 |
6 | g.33441711G>C | CA363623856 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33441711G= | CA1620013916 | SYNGAP1,SYNGAP1-AS1 | c.1988G= (p.Arg663=) c.2246G= (p.Arg749=) n.1G= c.*643G= (n.*643G=) c.2069G= (p.Arg690=) c.2201G= (p.Arg734=) n.330-4230C= | |
6 | g.33441711G>T | CA363623853 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33441715dup | CA1139659321 | SYNGAP1,SYNGAP1-AS1 | c.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 |
6 | g.33441712G>A | CA450103643 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33441712G>C | CA450103644 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33441712G>T | CA450103645 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33441713G>A | CA363623858 | SYNGAP1,SYNGAP1-AS1 | c.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 |
6 | g.33441713G>C | CA363623863 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33441713G>T | CA363623860 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33441714G>A | CA363623865 | SYNGAP1,SYNGAP1-AS1 | c.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 |
6 | g.33441714G>C | CA363623867 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33441714G>T | CA363623868 | SYNGAP1,SYNGAP1-AS1 | c.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 |