Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.33441218G>ACA450107551SYNGAP1,SYNGAP1-AS1c.1701G>A (p.Leu567=)
c.1959G>A (p.Leu653=)
c.*356G>A (n.*356G>A)
c.1782G>A (p.Leu594=)
c.1914G>A (p.Leu638=)
n.330-3737C>T
6g.33441218G>CCA450107552SYNGAP1,SYNGAP1-AS1c.1701G>C (p.Leu567=)
c.1959G>C (p.Leu653=)
c.*356G>C (n.*356G>C)
c.1782G>C (p.Leu594=)
c.1914G>C (p.Leu638=)
n.330-3737C>G
6g.33441218G>TCA450107553SYNGAP1,SYNGAP1-AS1c.1701G>T (p.Leu567=)
c.1959G>T (p.Leu653=)
c.*356G>T (n.*356G>T)
c.1782G>T (p.Leu594=)
c.1914G>T (p.Leu638=)
n.330-3737C>A
6g.33441219G>ACA363694720SYNGAP1,SYNGAP1-AS1c.1702G>A (p.Glu568Lys)
c.1960G>A (p.Glu654Lys)
c.*357G>A (n.*357G>A)
c.1783G>A (p.Glu595Lys)
c.1915G>A (p.Glu639Lys)
n.330-3738C>T
6g.33441219G>CCA363694722SYNGAP1,SYNGAP1-AS1c.1702G>C (p.Glu568Gln)
c.1960G>C (p.Glu654Gln)
c.*357G>C (n.*357G>C)
c.1783G>C (p.Glu595Gln)
c.1915G>C (p.Glu639Gln)
n.330-3738C>G
6g.33441219G=CA1620013716SYNGAP1,SYNGAP1-AS1c.1702G= (p.Glu568=)
c.1960G= (p.Glu654=)
c.*357G= (n.*357G=)
c.1783G= (p.Glu595=)
c.1915G= (p.Glu639=)
n.330-3738C=
6g.33441219G>TCA363694724SYNGAP1,SYNGAP1-AS1c.1702G>T (p.Glu568Ter)
c.1960G>T (p.Glu654Ter)
c.*357G>T (n.*357G>T)
c.1783G>T (p.Glu595Ter)
c.1915G>T (p.Glu639Ter)
n.330-3738C>A
 dbSNP
6g.33441220A>CCA363694728SYNGAP1,SYNGAP1-AS1c.1703A>C (p.Glu568Ala)
c.1961A>C (p.Glu654Ala)
c.*358A>C (n.*358A>C)
c.1784A>C (p.Glu595Ala)
c.1916A>C (p.Glu639Ala)
n.330-3739T>G
6g.33441220A>GCA363694729SYNGAP1,SYNGAP1-AS1c.1703A>G (p.Glu568Gly)
c.1961A>G (p.Glu654Gly)
c.*358A>G (n.*358A>G)
c.1784A>G (p.Glu595Gly)
c.1916A>G (p.Glu639Gly)
n.330-3739T>C
6g.33441220A>TCA363694727SYNGAP1,SYNGAP1-AS1c.1703A>T (p.Glu568Val)
c.1961A>T (p.Glu654Val)
c.*358A>T (n.*358A>T)
c.1784A>T (p.Glu595Val)
c.1916A>T (p.Glu639Val)
n.330-3739T>A
6g.33441221G>ACA137099019SYNGAP1,SYNGAP1-AS1c.1704G>A (p.Glu568=)
c.1962G>A (p.Glu654=)
c.*359G>A (n.*359G>A)
c.1785G>A (p.Glu595=)
c.1917G>A (p.Glu639=)
n.330-3740C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.33441221G>CCA363694731SYNGAP1,SYNGAP1-AS1c.1704G>C (p.Glu568Asp)
c.1962G>C (p.Glu654Asp)
c.*359G>C (n.*359G>C)
c.1785G>C (p.Glu595Asp)
c.1917G>C (p.Glu639Asp)
n.330-3740C>G
6g.33441221G=CA1620013717SYNGAP1,SYNGAP1-AS1c.1704G= (p.Glu568=)
c.1962G= (p.Glu654=)
c.*359G= (n.*359G=)
c.1785G= (p.Glu595=)
c.1917G= (p.Glu639=)
n.330-3740C=
6g.33441221G>TCA363694734SYNGAP1,SYNGAP1-AS1c.1704G>T (p.Glu568Asp)
c.1962G>T (p.Glu654Asp)
c.*359G>T (n.*359G>T)
c.1785G>T (p.Glu595Asp)
c.1917G>T (p.Glu639Asp)
n.330-3740C>A
6g.33441222C>ACA363694739SYNGAP1,SYNGAP1-AS1c.1705C>A (p.Leu569Met)
c.1963C>A (p.Leu655Met)
c.*360C>A (n.*360C>A)
c.1786C>A (p.Leu596Met)
c.1918C>A (p.Leu640Met)
n.330-3741G>T
6g.33441222C>GCA363694740SYNGAP1,SYNGAP1-AS1c.1705C>G (p.Leu569Val)
c.1963C>G (p.Leu655Val)
c.*360C>G (n.*360C>G)
c.1786C>G (p.Leu596Val)
c.1918C>G (p.Leu640Val)
n.330-3741G>C
6g.33441222C>TCA450107554SYNGAP1,SYNGAP1-AS1c.1705C>T (p.Leu569=)
c.1963C>T (p.Leu655=)
c.*360C>T (n.*360C>T)
c.1786C>T (p.Leu596=)
c.1918C>T (p.Leu640=)
n.330-3741G>A
6g.33441223T>ACA363694742SYNGAP1,SYNGAP1-AS1c.1706T>A (p.Leu569Gln)
c.1964T>A (p.Leu655Gln)
c.*361T>A (n.*361T>A)
c.1787T>A (p.Leu596Gln)
c.1919T>A (p.Leu640Gln)
n.330-3742A>T
 ClinVar dbSNP
6g.33441223T>CCA363694743SYNGAP1,SYNGAP1-AS1c.1706T>C (p.Leu569Pro)
c.1964T>C (p.Leu655Pro)
c.*361T>C (n.*361T>C)
c.1787T>C (p.Leu596Pro)
c.1919T>C (p.Leu640Pro)
n.330-3742A>G
 gnomAD v4
6g.33441223T>GCA363694745SYNGAP1,SYNGAP1-AS1c.1706T>G (p.Leu569Arg)
c.1964T>G (p.Leu655Arg)
c.*361T>G (n.*361T>G)
c.1787T>G (p.Leu596Arg)
c.1919T>G (p.Leu640Arg)
n.330-3742A>C
6g.33441224G>ACA450107556SYNGAP1,SYNGAP1-AS1c.1707G>A (p.Leu569=)
c.1965G>A (p.Leu655=)
c.*362G>A (n.*362G>A)
c.1788G>A (p.Leu596=)
c.1920G>A (p.Leu640=)
n.330-3743C>T
6g.33441224G>CCA450107557SYNGAP1,SYNGAP1-AS1c.1707G>C (p.Leu569=)
c.1965G>C (p.Leu655=)
c.*362G>C (n.*362G>C)
c.1788G>C (p.Leu596=)
c.1920G>C (p.Leu640=)
n.330-3743C>G
6g.33441224G>TCA450107555SYNGAP1,SYNGAP1-AS1c.1707G>T (p.Leu569=)
c.1965G>T (p.Leu655=)
c.*362G>T (n.*362G>T)
c.1788G>T (p.Leu596=)
c.1920G>T (p.Leu640=)
n.330-3743C>A
6g.33441225G>ACA363694751SYNGAP1,SYNGAP1-AS1c.1708G>A (p.Glu570Lys)
c.1966G>A (p.Glu656Lys)
c.*363G>A (n.*363G>A)
c.1789G>A (p.Glu597Lys)
c.1921G>A (p.Glu641Lys)
n.330-3744C>T
6g.33441225G>CCA363694748SYNGAP1,SYNGAP1-AS1c.1708G>C (p.Glu570Gln)
c.1966G>C (p.Glu656Gln)
c.*363G>C (n.*363G>C)
c.1789G>C (p.Glu597Gln)
c.1921G>C (p.Glu641Gln)
n.330-3744C>G
 ClinVar dbSNP gnomAD v4
6g.33441225G=CA1620013718SYNGAP1,SYNGAP1-AS1c.1708G= (p.Glu570=)
c.1966G= (p.Glu656=)
c.*363G= (n.*363G=)
c.1789G= (p.Glu597=)
c.1921G= (p.Glu641=)
n.330-3744C=
6g.33441225G>TCA363694749SYNGAP1,SYNGAP1-AS1c.1708G>T (p.Glu570Ter)
c.1966G>T (p.Glu656Ter)
c.*363G>T (n.*363G>T)
c.1789G>T (p.Glu597Ter)
c.1921G>T (p.Glu641Ter)
n.330-3744C>A
 dbSNP
6g.33441226A>CCA363694754SYNGAP1,SYNGAP1-AS1c.1709A>C (p.Glu570Ala)
c.1967A>C (p.Glu656Ala)
c.*364A>C (n.*364A>C)
c.1790A>C (p.Glu597Ala)
c.1922A>C (p.Glu641Ala)
n.330-3745T>G
6g.33441226A>GCA363694756SYNGAP1,SYNGAP1-AS1c.1709A>G (p.Glu570Gly)
c.1967A>G (p.Glu656Gly)
c.*364A>G (n.*364A>G)
c.1790A>G (p.Glu597Gly)
c.1922A>G (p.Glu641Gly)
n.330-3745T>C
6g.33441226A>TCA363694759SYNGAP1,SYNGAP1-AS1c.1709A>T (p.Glu570Val)
c.1967A>T (p.Glu656Val)
c.*364A>T (n.*364A>T)
c.1790A>T (p.Glu597Val)
c.1922A>T (p.Glu641Val)
n.330-3745T>A
6g.33441227A>CCA363694760SYNGAP1,SYNGAP1-AS1c.1710A>C (p.Glu570Asp)
c.1968A>C (p.Glu656Asp)
c.*365A>C (n.*365A>C)
c.1791A>C (p.Glu597Asp)
c.1923A>C (p.Glu641Asp)
n.330-3746T>G
6g.33441227A>GCA450107558SYNGAP1,SYNGAP1-AS1c.1710A>G (p.Glu570=)
c.1968A>G (p.Glu656=)
c.*365A>G (n.*365A>G)
c.1791A>G (p.Glu597=)
c.1923A>G (p.Glu641=)
n.330-3746T>C
6g.33441227A>TCA363694762SYNGAP1,SYNGAP1-AS1c.1710A>T (p.Glu570Asp)
c.1968A>T (p.Glu656Asp)
c.*365A>T (n.*365A>T)
c.1791A>T (p.Glu597Asp)
c.1923A>T (p.Glu641Asp)
n.330-3746T>A
6g.33441228T>ACA363621492SYNGAP1,SYNGAP1-AS1c.1711T>A (p.Trp571Arg)
c.1969T>A (p.Trp657Arg)
c.*366T>A (n.*366T>A)
c.1792T>A (p.Trp598Arg)
c.1924T>A (p.Trp642Arg)
n.330-3747A>T
6g.33441228T>CCA363621494SYNGAP1,SYNGAP1-AS1c.1711T>C (p.Trp571Arg)
c.1969T>C (p.Trp657Arg)
c.*366T>C (n.*366T>C)
c.1792T>C (p.Trp598Arg)
c.1924T>C (p.Trp642Arg)
n.330-3747A>G
6g.33441228T>GCA363621493SYNGAP1,SYNGAP1-AS1c.1711T>G (p.Trp571Gly)
c.1969T>G (p.Trp657Gly)
c.*366T>G (n.*366T>G)
c.1792T>G (p.Trp598Gly)
c.1924T>G (p.Trp642Gly)
n.330-3747A>C
6g.33441229G>ACA363621507SYNGAP1,SYNGAP1-AS1c.1712G>A (p.Trp571Ter)
c.1970G>A (p.Trp657Ter)
c.*367G>A (n.*367G>A)
c.1793G>A (p.Trp598Ter)
c.1925G>A (p.Trp642Ter)
n.330-3748C>T
 dbSNP
6g.33441229G>CCA363621510SYNGAP1,SYNGAP1-AS1c.1712G>C (p.Trp571Ser)
c.1970G>C (p.Trp657Ser)
c.*367G>C (n.*367G>C)
c.1793G>C (p.Trp598Ser)
c.1925G>C (p.Trp642Ser)
n.330-3748C>G
6g.33441229G=CA1620013719SYNGAP1,SYNGAP1-AS1c.1712G= (p.Trp571=)
c.1970G= (p.Trp657=)
c.*367G= (n.*367G=)
c.1793G= (p.Trp598=)
c.1925G= (p.Trp642=)
n.330-3748C=
6g.33441229G>TCA363621513SYNGAP1,SYNGAP1-AS1c.1712G>T (p.Trp571Leu)
c.1970G>T (p.Trp657Leu)
c.*367G>T (n.*367G>T)
c.1793G>T (p.Trp598Leu)
c.1925G>T (p.Trp642Leu)
n.330-3748C>A
 ClinVar
6g.33441230G>ACA363621517SYNGAP1,SYNGAP1-AS1c.1713G>A (p.Trp571Ter)
c.1971G>A (p.Trp657Ter)
c.*368G>A (n.*368G>A)
c.1794G>A (p.Trp598Ter)
c.1926G>A (p.Trp642Ter)
n.330-3749C>T
 dbSNP
6g.33441230G>CCA363621519SYNGAP1,SYNGAP1-AS1c.1713G>C (p.Trp571Cys)
c.1971G>C (p.Trp657Cys)
c.*368G>C (n.*368G>C)
c.1794G>C (p.Trp598Cys)
c.1926G>C (p.Trp642Cys)
n.330-3749C>G
6g.33441230G=CA1620013720SYNGAP1,SYNGAP1-AS1c.1713G= (p.Trp571=)
c.1971G= (p.Trp657=)
c.*368G= (n.*368G=)
c.1794G= (p.Trp598=)
c.1926G= (p.Trp642=)
n.330-3749C=
6g.33441230G>TCA363621524SYNGAP1,SYNGAP1-AS1c.1713G>T (p.Trp571Cys)
c.1971G>T (p.Trp657Cys)
c.*368G>T (n.*368G>T)
c.1794G>T (p.Trp598Cys)
c.1926G>T (p.Trp642Cys)
n.330-3749C>A
6g.33441231G>ACA3758766SYNGAP1,SYNGAP1-AS1c.1714G>A (p.Gly572Ser)
c.1972G>A (p.Gly658Ser)
c.*369G>A (n.*369G>A)
c.1795G>A (p.Gly599Ser)
c.1927G>A (p.Gly643Ser)
n.330-3750C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.33441231G>CCA363621532SYNGAP1,SYNGAP1-AS1c.1714G>C (p.Gly572Arg)
c.1972G>C (p.Gly658Arg)
c.*369G>C (n.*369G>C)
c.1795G>C (p.Gly599Arg)
c.1927G>C (p.Gly643Arg)
n.330-3750C>G
6g.33441231G=CA1620013721SYNGAP1,SYNGAP1-AS1c.1714G= (p.Gly572=)
c.1972G= (p.Gly658=)
c.*369G= (n.*369G=)
c.1795G= (p.Gly599=)
c.1927G= (p.Gly643=)
n.330-3750C=
6g.33441231G>TCA363621538SYNGAP1,SYNGAP1-AS1c.1714G>T (p.Gly572Cys)
c.1972G>T (p.Gly658Cys)
c.*369G>T (n.*369G>T)
c.1795G>T (p.Gly599Cys)
c.1927G>T (p.Gly643Cys)
n.330-3750C>A
6g.33441232G>ACA363621542SYNGAP1,SYNGAP1-AS1c.1715G>A (p.Gly572Asp)
c.1973G>A (p.Gly658Asp)
c.*370G>A (n.*370G>A)
c.1796G>A (p.Gly599Asp)
c.1928G>A (p.Gly643Asp)
n.330-3751C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.33441232G>CCA363621544SYNGAP1,SYNGAP1-AS1c.1715G>C (p.Gly572Ala)
c.1973G>C (p.Gly658Ala)
c.*370G>C (n.*370G>C)
c.1796G>C (p.Gly599Ala)
c.1928G>C (p.Gly643Ala)
n.330-3751C>G
6g.33441232G=CA1620013722SYNGAP1,SYNGAP1-AS1c.1715G= (p.Gly572=)
c.1973G= (p.Gly658=)
c.*370G= (n.*370G=)
c.1796G= (p.Gly599=)
c.1928G= (p.Gly643=)
n.330-3751C=
6g.33441232G>TCA363621546SYNGAP1,SYNGAP1-AS1c.1715G>T (p.Gly572Val)
c.1973G>T (p.Gly658Val)
c.*370G>T (n.*370G>T)
c.1796G>T (p.Gly599Val)
c.1928G>T (p.Gly643Val)
n.330-3751C>A
6g.33441233T>ACA450103355SYNGAP1,SYNGAP1-AS1c.1716T>A (p.Gly572=)
c.1974T>A (p.Gly658=)
c.*371T>A (n.*371T>A)
c.1797T>A (p.Gly599=)
c.1929T>A (p.Gly643=)
n.330-3752A>T
6g.33441233T>CCA450103356SYNGAP1,SYNGAP1-AS1c.1716T>C (p.Gly572=)
c.1974T>C (p.Gly658=)
c.*371T>C (n.*371T>C)
c.1797T>C (p.Gly599=)
c.1929T>C (p.Gly643=)
n.330-3752A>G
6g.33441233T>GCA450103357SYNGAP1,SYNGAP1-AS1c.1716T>G (p.Gly572=)
c.1974T>G (p.Gly658=)
c.*371T>G (n.*371T>G)
c.1797T>G (p.Gly599=)
c.1929T>G (p.Gly643=)
n.330-3752A>C
6g.33441234T>ACA363621556SYNGAP1,SYNGAP1-AS1c.1717T>A (p.Ser573Thr)
c.1975T>A (p.Ser659Thr)
c.*372T>A (n.*372T>A)
c.1798T>A (p.Ser600Thr)
c.1930T>A (p.Ser644Thr)
n.330-3753A>T
6g.33441234T>CCA363621549SYNGAP1,SYNGAP1-AS1c.1717T>C (p.Ser573Pro)
c.1975T>C (p.Ser659Pro)
c.*372T>C (n.*372T>C)
c.1798T>C (p.Ser600Pro)
c.1930T>C (p.Ser644Pro)
n.330-3753A>G
6g.33441234T>GCA363621553SYNGAP1,SYNGAP1-AS1c.1717T>G (p.Ser573Ala)
c.1975T>G (p.Ser659Ala)
c.*372T>G (n.*372T>G)
c.1798T>G (p.Ser600Ala)
c.1930T>G (p.Ser644Ala)
n.330-3753A>C
6g.33441235C>ACA363621560SYNGAP1,SYNGAP1-AS1c.1718C>A (p.Ser573Tyr)
c.1976C>A (p.Ser659Tyr)
c.*373C>A (n.*373C>A)
c.1799C>A (p.Ser600Tyr)
c.1931C>A (p.Ser644Tyr)
n.330-3754G>T
6g.33441235C>GCA363621563SYNGAP1,SYNGAP1-AS1c.1718C>G (p.Ser573Cys)
c.1976C>G (p.Ser659Cys)
c.*373C>G (n.*373C>G)
c.1799C>G (p.Ser600Cys)
c.1931C>G (p.Ser644Cys)
n.330-3754G>C
6g.33441235C>TCA363621574SYNGAP1,SYNGAP1-AS1c.1718C>T (p.Ser573Phe)
c.1976C>T (p.Ser659Phe)
c.*373C>T (n.*373C>T)
c.1799C>T (p.Ser600Phe)
c.1931C>T (p.Ser644Phe)
n.330-3754G>A
 ClinVar dbSNP
6g.33441236C>ACA450103358SYNGAP1,SYNGAP1-AS1c.1719C>A (p.Ser573=)
c.1977C>A (p.Ser659=)
c.*374C>A (n.*374C>A)
c.1800C>A (p.Ser600=)
c.1932C>A (p.Ser644=)
n.330-3755G>T
6g.33441236C=CA1620013723SYNGAP1,SYNGAP1-AS1c.1719C= (p.Ser573=)
c.1977C= (p.Ser659=)
c.*374C= (n.*374C=)
c.1800C= (p.Ser600=)
c.1932C= (p.Ser644=)
n.330-3755G=
6g.33441236C>GCA450103359SYNGAP1,SYNGAP1-AS1c.1719C>G (p.Ser573=)
c.1977C>G (p.Ser659=)
c.*374C>G (n.*374C>G)
c.1800C>G (p.Ser600=)
c.1932C>G (p.Ser644=)
n.330-3755G>C
6g.33441236C>TCA450103360SYNGAP1,SYNGAP1-AS1c.1719C>T (p.Ser573=)
c.1977C>T (p.Ser659=)
c.*374C>T (n.*374C>T)
c.1800C>T (p.Ser600=)
c.1932C>T (p.Ser644=)
n.330-3755G>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
6g.33441237A>CCA363621577SYNGAP1,SYNGAP1-AS1c.1720A>C (p.Met574Leu)
c.1978A>C (p.Met660Leu)
c.*375A>C (n.*375A>C)
c.1801A>C (p.Met601Leu)
c.1933A>C (p.Met645Leu)
n.330-3756T>G
6g.33441237A>GCA363621582SYNGAP1,SYNGAP1-AS1c.1720A>G (p.Met574Val)
c.1978A>G (p.Met660Val)
c.*375A>G (n.*375A>G)
c.1801A>G (p.Met601Val)
c.1933A>G (p.Met645Val)
n.330-3756T>C
6g.33441237A>TCA363621594SYNGAP1,SYNGAP1-AS1c.1720A>T (p.Met574Leu)
c.1978A>T (p.Met660Leu)
c.*375A>T (n.*375A>T)
c.1801A>T (p.Met601Leu)
c.1933A>T (p.Met645Leu)
n.330-3756T>A
6g.33441238T>ACA363621596SYNGAP1,SYNGAP1-AS1c.1721T>A (p.Met574Lys)
c.1979T>A (p.Met660Lys)
c.*376T>A (n.*376T>A)
c.1802T>A (p.Met601Lys)
c.1934T>A (p.Met645Lys)
n.330-3757A>T
6g.33441238T>CCA363621600SYNGAP1,SYNGAP1-AS1c.1721T>C (p.Met574Thr)
c.1979T>C (p.Met660Thr)
c.*376T>C (n.*376T>C)
c.1802T>C (p.Met601Thr)
c.1934T>C (p.Met645Thr)
n.330-3757A>G
 gnomAD v4
6g.33441238T>GCA363621602SYNGAP1,SYNGAP1-AS1c.1721T>G (p.Met574Arg)
c.1979T>G (p.Met660Arg)
c.*376T>G (n.*376T>G)
c.1802T>G (p.Met601Arg)
c.1934T>G (p.Met645Arg)
n.330-3757A>C
6g.33441239G>ACA363621604SYNGAP1,SYNGAP1-AS1c.1722G>A (p.Met574Ile)
c.1980G>A (p.Met660Ile)
c.*377G>A (n.*377G>A)
c.1803G>A (p.Met601Ile)
c.1935G>A (p.Met645Ile)
n.330-3758C>T
 dbSNP gnomAD v2
6g.33441239G>CCA363621606SYNGAP1,SYNGAP1-AS1c.1722G>C (p.Met574Ile)
c.1980G>C (p.Met660Ile)
c.*377G>C (n.*377G>C)
c.1803G>C (p.Met601Ile)
c.1935G>C (p.Met645Ile)
n.330-3758C>G
6g.33441239G=CA1620013724SYNGAP1,SYNGAP1-AS1c.1722G= (p.Met574=)
c.1980G= (p.Met660=)
c.*377G= (n.*377G=)
c.1803G= (p.Met601=)
c.1935G= (p.Met645=)
n.330-3758C=
6g.33441239G>TCA363621609SYNGAP1,SYNGAP1-AS1c.1722G>T (p.Met574Ile)
c.1980G>T (p.Met660Ile)
c.*377G>T (n.*377G>T)
c.1803G>T (p.Met601Ile)
c.1935G>T (p.Met645Ile)
n.330-3758C>A
6g.33441240C>ACA363621630SYNGAP1,SYNGAP1-AS1c.1723C>A (p.Gln575Lys)
c.1981C>A (p.Gln661Lys)
c.*378C>A (n.*378C>A)
c.1804C>A (p.Gln602Lys)
c.1936C>A (p.Gln646Lys)
n.330-3759G>T
6g.33441240C=CA1620013725SYNGAP1,SYNGAP1-AS1c.1723C= (p.Gln575=)
c.1981C= (p.Gln661=)
c.*378C= (n.*378C=)
c.1804C= (p.Gln602=)
c.1936C= (p.Gln646=)
n.330-3759G=
6g.33441240C>GCA363621627SYNGAP1,SYNGAP1-AS1c.1723C>G (p.Gln575Glu)
c.1981C>G (p.Gln661Glu)
c.*378C>G (n.*378C>G)
c.1804C>G (p.Gln602Glu)
c.1936C>G (p.Gln646Glu)
n.330-3759G>C
6g.33441240C>TCA363621614SYNGAP1,SYNGAP1-AS1c.1723C>T (p.Gln575Ter)
c.1981C>T (p.Gln661Ter)
c.*378C>T (n.*378C>T)
c.1804C>T (p.Gln602Ter)
c.1936C>T (p.Gln646Ter)
n.330-3759G>A
 dbSNP COSMIC COSMIC
6g.33441241A>CCA363621632SYNGAP1,SYNGAP1-AS1c.1724A>C (p.Gln575Pro)
c.1982A>C (p.Gln661Pro)
c.*379A>C (n.*379A>C)
c.1805A>C (p.Gln602Pro)
c.1937A>C (p.Gln646Pro)
n.330-3760T>G
6g.33441241A>GCA363621634SYNGAP1,SYNGAP1-AS1c.1724A>G (p.Gln575Arg)
c.1982A>G (p.Gln661Arg)
c.*379A>G (n.*379A>G)
c.1805A>G (p.Gln602Arg)
c.1937A>G (p.Gln646Arg)
n.330-3760T>C
6g.33441241A>TCA363621639SYNGAP1,SYNGAP1-AS1c.1724A>T (p.Gln575Leu)
c.1982A>T (p.Gln661Leu)
c.*379A>T (n.*379A>T)
c.1805A>T (p.Gln602Leu)
c.1937A>T (p.Gln646Leu)
n.330-3760T>A
6g.33441242G>ACA450103363SYNGAP1,SYNGAP1-AS1c.1725G>A (p.Gln575=)
c.1983G>A (p.Gln661=)
c.*380G>A (n.*380G>A)
c.1806G>A (p.Gln602=)
c.1938G>A (p.Gln646=)
n.330-3761C>T
6g.33441242G>CCA363621654SYNGAP1,SYNGAP1-AS1c.1725G>C (p.Gln575His)
c.1983G>C (p.Gln661His)
c.*380G>C (n.*380G>C)
c.1806G>C (p.Gln602His)
c.1938G>C (p.Gln646His)
n.330-3761C>G
6g.33441242G>TCA363621666SYNGAP1,SYNGAP1-AS1c.1725G>T (p.Gln575His)
c.1983G>T (p.Gln661His)
c.*380G>T (n.*380G>T)
c.1806G>T (p.Gln602His)
c.1938G>T (p.Gln646His)
n.330-3761C>A
6g.33441243C>ACA363621671SYNGAP1,SYNGAP1-AS1c.1726C>A (p.Gln576Lys)
c.1984C>A (p.Gln662Lys)
c.*381C>A (n.*381C>A)
c.1807C>A (p.Gln603Lys)
c.1939C>A (p.Gln647Lys)
n.330-3762G>T
6g.33441243C=CA1620013726SYNGAP1,SYNGAP1-AS1c.1726C= (p.Gln576=)
c.1984C= (p.Gln662=)
c.*381C= (n.*381C=)
c.1807C= (p.Gln603=)
c.1939C= (p.Gln647=)
n.330-3762G=
6g.33441243C>GCA363621673SYNGAP1,SYNGAP1-AS1c.1726C>G (p.Gln576Glu)
c.1984C>G (p.Gln662Glu)
c.*381C>G (n.*381C>G)
c.1807C>G (p.Gln603Glu)
c.1939C>G (p.Gln647Glu)
n.330-3762G>C
6g.33441243C>TCA363621677SYNGAP1,SYNGAP1-AS1c.1726C>T (p.Gln576Ter)
c.1984C>T (p.Gln662Ter)
c.*381C>T (n.*381C>T)
c.1807C>T (p.Gln603Ter)
c.1939C>T (p.Gln647Ter)
n.330-3762G>A
 dbSNP
6g.33441244A>CCA363621680SYNGAP1,SYNGAP1-AS1c.1727A>C (p.Gln576Pro)
c.1985A>C (p.Gln662Pro)
c.*382A>C (n.*382A>C)
c.1808A>C (p.Gln603Pro)
c.1940A>C (p.Gln647Pro)
n.330-3763T>G
6g.33441244A>GCA363621682SYNGAP1,SYNGAP1-AS1c.1727A>G (p.Gln576Arg)
c.1985A>G (p.Gln662Arg)
c.*382A>G (n.*382A>G)
c.1808A>G (p.Gln603Arg)
c.1940A>G (p.Gln647Arg)
n.330-3763T>C
6g.33441244A>TCA363621683SYNGAP1,SYNGAP1-AS1c.1727A>T (p.Gln576Leu)
c.1985A>T (p.Gln662Leu)
c.*382A>T (n.*382A>T)
c.1808A>T (p.Gln603Leu)
c.1940A>T (p.Gln647Leu)
n.330-3763T>A
6g.33441245G>ACA450103364SYNGAP1,SYNGAP1-AS1c.1728G>A (p.Gln576=)
c.1986G>A (p.Gln662=)
c.*383G>A (n.*383G>A)
c.1809G>A (p.Gln603=)
c.1941G>A (p.Gln647=)
n.330-3764C>T
 dbSNP gnomAD v3 gnomAD v4
6g.33441245G>CCA363621684SYNGAP1,SYNGAP1-AS1c.1728G>C (p.Gln576His)
c.1986G>C (p.Gln662His)
c.*383G>C (n.*383G>C)
c.1809G>C (p.Gln603His)
c.1941G>C (p.Gln647His)
n.330-3764C>G
6g.33441245G=CA1620013727SYNGAP1,SYNGAP1-AS1c.1728G= (p.Gln576=)
c.1986G= (p.Gln662=)
c.*383G= (n.*383G=)
c.1809G= (p.Gln603=)
c.1941G= (p.Gln647=)
n.330-3764C=
6g.33441245G>TCA363621686SYNGAP1,SYNGAP1-AS1c.1728G>T (p.Gln576His)
c.1986G>T (p.Gln662His)
c.*383G>T (n.*383G>T)
c.1809G>T (p.Gln603His)
c.1941G>T (p.Gln647His)
n.330-3764C>A
6g.33441246T>ACA363621692SYNGAP1,SYNGAP1-AS1c.1729T>A (p.Phe577Ile)
c.1987T>A (p.Phe663Ile)
c.*384T>A (n.*384T>A)
c.1810T>A (p.Phe604Ile)
c.1942T>A (p.Phe648Ile)
n.330-3765A>T
6g.33441246T>CCA363621702SYNGAP1,SYNGAP1-AS1c.1729T>C (p.Phe577Leu)
c.1987T>C (p.Phe663Leu)
c.*384T>C (n.*384T>C)
c.1810T>C (p.Phe604Leu)
c.1942T>C (p.Phe648Leu)
n.330-3765A>G
6g.33441246T>GCA363621688SYNGAP1,SYNGAP1-AS1c.1729T>G (p.Phe577Val)
c.1987T>G (p.Phe663Val)
c.*384T>G (n.*384T>G)
c.1810T>G (p.Phe604Val)
c.1942T>G (p.Phe648Val)
n.330-3765A>C
6g.33441250delCA2695202904SYNGAP1,SYNGAP1-AS1c.1733del (p.Leu578CysfsTer10)
c.1991del (p.Leu664CysfsTer10)
c.*388del (n.*388del)
c.1814del (p.Leu605CysfsTer10)
c.1946del (p.Leu649CysfsTer10)
n.330-3765del
6g.33441247T>ACA363621707SYNGAP1,SYNGAP1-AS1c.1730T>A (p.Phe577Tyr)
c.1988T>A (p.Phe663Tyr)
c.*385T>A (n.*385T>A)
c.1811T>A (p.Phe604Tyr)
c.1943T>A (p.Phe648Tyr)
n.330-3766A>T
6g.33441247T>CCA363621709SYNGAP1,SYNGAP1-AS1c.1730T>C (p.Phe577Ser)
c.1988T>C (p.Phe663Ser)
c.*385T>C (n.*385T>C)
c.1811T>C (p.Phe604Ser)
c.1943T>C (p.Phe648Ser)
n.330-3766A>G
6g.33441247T>GCA363621708SYNGAP1,SYNGAP1-AS1c.1730T>G (p.Phe577Cys)
c.1988T>G (p.Phe663Cys)
c.*385T>G (n.*385T>G)
c.1811T>G (p.Phe604Cys)
c.1943T>G (p.Phe648Cys)
n.330-3766A>C
6g.33441248T>ACA363621710SYNGAP1,SYNGAP1-AS1c.1731T>A (p.Phe577Leu)
c.1989T>A (p.Phe663Leu)
c.*386T>A (n.*386T>A)
c.1812T>A (p.Phe604Leu)
c.1944T>A (p.Phe648Leu)
n.330-3767A>T
6g.33441248T>CCA450103365SYNGAP1,SYNGAP1-AS1c.1731T>C (p.Phe577=)
c.1989T>C (p.Phe663=)
c.*386T>C (n.*386T>C)
c.1812T>C (p.Phe604=)
c.1944T>C (p.Phe648=)
n.330-3767A>G
6g.33441248T>GCA363621712SYNGAP1,SYNGAP1-AS1c.1731T>G (p.Phe577Leu)
c.1989T>G (p.Phe663Leu)
c.*386T>G (n.*386T>G)
c.1812T>G (p.Phe604Leu)
c.1944T>G (p.Phe648Leu)
n.330-3767A>C
6g.33441249T>ACA363621713SYNGAP1,SYNGAP1-AS1c.1732T>A (p.Leu578Met)
c.1990T>A (p.Leu664Met)
c.*387T>A (n.*387T>A)
c.1813T>A (p.Leu605Met)
c.1945T>A (p.Leu649Met)
n.330-3768A>T
6g.33441249T>CCA450103366SYNGAP1,SYNGAP1-AS1c.1732T>C (p.Leu578=)
c.1990T>C (p.Leu664=)
c.*387T>C (n.*387T>C)
c.1813T>C (p.Leu605=)
c.1945T>C (p.Leu649=)
n.330-3768A>G
6g.33441249T>GCA363621715SYNGAP1,SYNGAP1-AS1c.1732T>G (p.Leu578Val)
c.1990T>G (p.Leu664Val)
c.*387T>G (n.*387T>G)
c.1813T>G (p.Leu605Val)
c.1945T>G (p.Leu649Val)
n.330-3768A>C
6g.33441250T>ACA363621718SYNGAP1,SYNGAP1-AS1c.1733T>A (p.Leu578Ter)
c.1991T>A (p.Leu664Ter)
c.*388T>A (n.*388T>A)
c.1814T>A (p.Leu605Ter)
c.1946T>A (p.Leu649Ter)
n.330-3769A>T
 dbSNP
6g.33441250T>CCA363621720SYNGAP1,SYNGAP1-AS1c.1733T>C (p.Leu578Ser)
c.1991T>C (p.Leu664Ser)
c.*388T>C (n.*388T>C)
c.1814T>C (p.Leu605Ser)
c.1946T>C (p.Leu649Ser)
n.330-3769A>G
 ClinVar gnomAD v4
6g.33441250T>GCA363621722SYNGAP1,SYNGAP1-AS1c.1733T>G (p.Leu578Trp)
c.1991T>G (p.Leu664Trp)
c.*388T>G (n.*388T>G)
c.1814T>G (p.Leu605Trp)
c.1946T>G (p.Leu649Trp)
n.330-3769A>C
6g.33441250T=CA1620013728SYNGAP1,SYNGAP1-AS1c.1733T= (p.Leu578=)
c.1991T= (p.Leu664=)
c.*388T= (n.*388T=)
c.1814T= (p.Leu605=)
c.1946T= (p.Leu649=)
n.330-3769A=
6g.33441251G>ACA450103367SYNGAP1,SYNGAP1-AS1c.1734G>A (p.Leu578=)
c.1992G>A (p.Leu664=)
c.*389G>A (n.*389G>A)
c.1815G>A (p.Leu605=)
c.1947G>A (p.Leu649=)
n.330-3770C>T
 gnomAD v4
6g.33441251G>CCA363621725SYNGAP1,SYNGAP1-AS1c.1734G>C (p.Leu578Phe)
c.1992G>C (p.Leu664Phe)
c.*389G>C (n.*389G>C)
c.1815G>C (p.Leu605Phe)
c.1947G>C (p.Leu649Phe)
n.330-3770C>G
6g.33441251G>TCA363621728SYNGAP1,SYNGAP1-AS1c.1734G>T (p.Leu578Phe)
c.1992G>T (p.Leu664Phe)
c.*389G>T (n.*389G>T)
c.1815G>T (p.Leu605Phe)
c.1947G>T (p.Leu649Phe)
n.330-3770C>A
6g.33441252T>ACA363621735SYNGAP1,SYNGAP1-AS1c.1735T>A (p.Tyr579Asn)
c.1993T>A (p.Tyr665Asn)
c.*390T>A (n.*390T>A)
c.1816T>A (p.Tyr606Asn)
c.1948T>A (p.Tyr650Asn)
n.330-3771A>T
6g.33441252T>CCA137071264SYNGAP1,SYNGAP1-AS1c.1735T>C (p.Tyr579His)
c.1993T>C (p.Tyr665His)
c.*390T>C (n.*390T>C)
c.1816T>C (p.Tyr606His)
c.1948T>C (p.Tyr650His)
n.330-3771A>G
 dbSNP gnomAD v4
6g.33441252T>GCA363621738SYNGAP1,SYNGAP1-AS1c.1735T>G (p.Tyr579Asp)
c.1993T>G (p.Tyr665Asp)
c.*390T>G (n.*390T>G)
c.1816T>G (p.Tyr606Asp)
c.1948T>G (p.Tyr650Asp)
n.330-3771A>C
6g.33441252T=CA1620013729SYNGAP1,SYNGAP1-AS1c.1735T= (p.Tyr579=)
c.1993T= (p.Tyr665=)
c.*390T= (n.*390T=)
c.1816T= (p.Tyr606=)
c.1948T= (p.Tyr650=)
n.330-3771A=
6g.33441253A>CCA363621745SYNGAP1,SYNGAP1-AS1c.1736A>C (p.Tyr579Ser)
c.1994A>C (p.Tyr665Ser)
c.*391A>C (n.*391A>C)
c.1817A>C (p.Tyr606Ser)
c.1949A>C (p.Tyr650Ser)
n.330-3772T>G
6g.33441253A>GCA363621739SYNGAP1,SYNGAP1-AS1c.1736A>G (p.Tyr579Cys)
c.1994A>G (p.Tyr665Cys)
c.*391A>G (n.*391A>G)
c.1817A>G (p.Tyr606Cys)
c.1949A>G (p.Tyr650Cys)
n.330-3772T>C
 gnomAD v4
6g.33441253A>TCA363621741SYNGAP1,SYNGAP1-AS1c.1736A>T (p.Tyr579Phe)
c.1994A>T (p.Tyr665Phe)
c.*391A>T (n.*391A>T)
c.1817A>T (p.Tyr606Phe)
c.1949A>T (p.Tyr650Phe)
n.330-3772T>A
6g.33441254T>ACA363621747SYNGAP1,SYNGAP1-AS1c.1737T>A (p.Tyr579Ter)
c.1995T>A (p.Tyr665Ter)
c.*392T>A (n.*392T>A)
c.1818T>A (p.Tyr606Ter)
c.1950T>A (p.Tyr650Ter)
n.330-3773A>T
6g.33441254T>CCA450103369SYNGAP1,SYNGAP1-AS1c.1737T>C (p.Tyr579=)
c.1995T>C (p.Tyr665=)
c.*392T>C (n.*392T>C)
c.1818T>C (p.Tyr606=)
c.1950T>C (p.Tyr650=)
n.330-3773A>G
 gnomAD v4
6g.33441254T>GCA363621749SYNGAP1,SYNGAP1-AS1c.1737T>G (p.Tyr579Ter)
c.1995T>G (p.Tyr665Ter)
c.*392T>G (n.*392T>G)
c.1818T>G (p.Tyr606Ter)
c.1950T>G (p.Tyr650Ter)
n.330-3773A>C
 gnomAD v4
6g.33441255G>ACA363621755SYNGAP1,SYNGAP1-AS1c.1738G>A (p.Glu580Lys)
c.1996G>A (p.Glu666Lys)
c.*393G>A (n.*393G>A)
c.1819G>A (p.Glu607Lys)
c.1951G>A (p.Glu651Lys)
n.330-3774C>T
6g.33441255G>CCA363621756SYNGAP1,SYNGAP1-AS1c.1738G>C (p.Glu580Gln)
c.1996G>C (p.Glu666Gln)
c.*393G>C (n.*393G>C)
c.1819G>C (p.Glu607Gln)
c.1951G>C (p.Glu651Gln)
n.330-3774C>G
6g.33441255G=CA1620013730SYNGAP1,SYNGAP1-AS1c.1738G= (p.Glu580=)
c.1996G= (p.Glu666=)
c.*393G= (n.*393G=)
c.1819G= (p.Glu607=)
c.1951G= (p.Glu651=)
n.330-3774C=
6g.33441255G>TCA363621757SYNGAP1,SYNGAP1-AS1c.1738G>T (p.Glu580Ter)
c.1996G>T (p.Glu666Ter)
c.*393G>T (n.*393G>T)
c.1819G>T (p.Glu607Ter)
c.1951G>T (p.Glu651Ter)
n.330-3774C>A
 dbSNP
6g.33441256A=CA1620013731SYNGAP1,SYNGAP1-AS1c.1739A= (p.Glu580=)
c.1997A= (p.Glu666=)
c.*394A= (n.*394A=)
c.1820A= (p.Glu607=)
c.1952A= (p.Glu651=)
n.330-3775T=
6g.33441256A>CCA363621759SYNGAP1,SYNGAP1-AS1c.1739A>C (p.Glu580Ala)
c.1997A>C (p.Glu666Ala)
c.*394A>C (n.*394A>C)
c.1820A>C (p.Glu607Ala)
c.1952A>C (p.Glu651Ala)
n.330-3775T>G
6g.33441256A>GCA363621761SYNGAP1,SYNGAP1-AS1c.1739A>G (p.Glu580Gly)
c.1997A>G (p.Glu666Gly)
c.*394A>G (n.*394A>G)
c.1820A>G (p.Glu607Gly)
c.1952A>G (p.Glu651Gly)
n.330-3775T>C
 ClinVar dbSNP gnomAD v4
6g.33441256A>TCA363621766SYNGAP1,SYNGAP1-AS1c.1739A>T (p.Glu580Val)
c.1997A>T (p.Glu666Val)
c.*394A>T (n.*394A>T)
c.1820A>T (p.Glu607Val)
c.1952A>T (p.Glu651Val)
n.330-3775T>A
6g.33441257G>ACA450103370SYNGAP1,SYNGAP1-AS1c.1740G>A (p.Glu580=)
c.1998G>A (p.Glu666=)
c.*395G>A (n.*395G>A)
c.1821G>A (p.Glu607=)
c.1953G>A (p.Glu651=)
n.330-3776C>T
6g.33441257G>CCA363621769SYNGAP1,SYNGAP1-AS1c.1740G>C (p.Glu580Asp)
c.1998G>C (p.Glu666Asp)
c.*395G>C (n.*395G>C)
c.1821G>C (p.Glu607Asp)
c.1953G>C (p.Glu651Asp)
n.330-3776C>G
 ClinVar dbSNP COSMIC COSMIC
6g.33441257G=CA1620013732SYNGAP1,SYNGAP1-AS1c.1740G= (p.Glu580=)
c.1998G= (p.Glu666=)
c.*395G= (n.*395G=)
c.1821G= (p.Glu607=)
c.1953G= (p.Glu651=)
n.330-3776C=
6g.33441257G>TCA363621771SYNGAP1,SYNGAP1-AS1c.1740G>T (p.Glu580Asp)
c.1998G>T (p.Glu666Asp)
c.*395G>T (n.*395G>T)
c.1821G>T (p.Glu607Asp)
c.1953G>T (p.Glu651Asp)
n.330-3776C>A
6g.33441258A>CCA363621781SYNGAP1,SYNGAP1-AS1c.1741A>C (p.Ile581Leu)
c.1999A>C (p.Ile667Leu)
c.*396A>C (n.*396A>C)
c.1822A>C (p.Ile608Leu)
c.1954A>C (p.Ile652Leu)
n.330-3777T>G
6g.33441258A>GCA363621776SYNGAP1,SYNGAP1-AS1c.1741A>G (p.Ile581Val)
c.1999A>G (p.Ile667Val)
c.*396A>G (n.*396A>G)
c.1822A>G (p.Ile608Val)
c.1954A>G (p.Ile652Val)
n.330-3777T>C
6g.33441258A>TCA363621773SYNGAP1,SYNGAP1-AS1c.1741A>T (p.Ile581Phe)
c.1999A>T (p.Ile667Phe)
c.*396A>T (n.*396A>T)
c.1822A>T (p.Ile608Phe)
c.1954A>T (p.Ile652Phe)
n.330-3777T>A
6g.33441259T>ACA363621784SYNGAP1,SYNGAP1-AS1c.1742T>A (p.Ile581Asn)
c.2000T>A (p.Ile667Asn)
c.*397T>A (n.*397T>A)
c.1823T>A (p.Ile608Asn)
c.1955T>A (p.Ile652Asn)
n.330-3778A>T
6g.33441259T>CCA363621790SYNGAP1,SYNGAP1-AS1c.1742T>C (p.Ile581Thr)
c.2000T>C (p.Ile667Thr)
c.*397T>C (n.*397T>C)
c.1823T>C (p.Ile608Thr)
c.1955T>C (p.Ile652Thr)
n.330-3778A>G
6g.33441259T>GCA363621792SYNGAP1,SYNGAP1-AS1c.1742T>G (p.Ile581Ser)
c.2000T>G (p.Ile667Ser)
c.*397T>G (n.*397T>G)
c.1823T>G (p.Ile608Ser)
c.1955T>G (p.Ile652Ser)
n.330-3778A>C
6g.33441260_33441277delCA2770572118SYNGAP1,SYNGAP1-AS1c.1743_1760del (p.Ser582_Leu587del)
c.2001_2018del (p.Ser668_Leu673del)
c.*398_*415del (n.*398_*415del)
c.1824_1841del (p.Ser609_Leu614del)
c.1956_1973del (p.Ser653_Leu658del)
n.330-3795_330-3778del
6g.33441260C>ACA450103371SYNGAP1,SYNGAP1-AS1c.1743C>A (p.Ile581=)
c.2001C>A (p.Ile667=)
c.*398C>A (n.*398C>A)
c.1824C>A (p.Ile608=)
c.1956C>A (p.Ile652=)
n.330-3779G>T
6g.33441260C>GCA363621793SYNGAP1,SYNGAP1-AS1c.1743C>G (p.Ile581Met)
c.2001C>G (p.Ile667Met)
c.*398C>G (n.*398C>G)
c.1824C>G (p.Ile608Met)
c.1956C>G (p.Ile652Met)
n.330-3779G>C
6g.33441260C>TCA450103372SYNGAP1,SYNGAP1-AS1c.1743C>T (p.Ile581=)
c.2001C>T (p.Ile667=)
c.*398C>T (n.*398C>T)
c.1824C>T (p.Ile608=)
c.1956C>T (p.Ile652=)
n.330-3779G>A
6g.33441261T>ACA363621796SYNGAP1,SYNGAP1-AS1c.1744T>A (p.Ser582Thr)
c.2002T>A (p.Ser668Thr)
c.*399T>A (n.*399T>A)
c.1825T>A (p.Ser609Thr)
c.1957T>A (p.Ser653Thr)
n.330-3780A>T
6g.33441261T>CCA363621800SYNGAP1,SYNGAP1-AS1c.1744T>C (p.Ser582Pro)
c.2002T>C (p.Ser668Pro)
c.*399T>C (n.*399T>C)
c.1825T>C (p.Ser609Pro)
c.1957T>C (p.Ser653Pro)
n.330-3780A>G
6g.33441261T>GCA363621807SYNGAP1,SYNGAP1-AS1c.1744T>G (p.Ser582Ala)
c.2002T>G (p.Ser668Ala)
c.*399T>G (n.*399T>G)
c.1825T>G (p.Ser609Ala)
c.1957T>G (p.Ser653Ala)
n.330-3780A>C
6g.33441262C>ACA363621811SYNGAP1,SYNGAP1-AS1c.1745C>A (p.Ser582Tyr)
c.2003C>A (p.Ser668Tyr)
c.*400C>A (n.*400C>A)
c.1826C>A (p.Ser609Tyr)
c.1958C>A (p.Ser653Tyr)
n.330-3781G>T
6g.33441262C>GCA363621812SYNGAP1,SYNGAP1-AS1c.1745C>G (p.Ser582Cys)
c.2003C>G (p.Ser668Cys)
c.*400C>G (n.*400C>G)
c.1826C>G (p.Ser609Cys)
c.1958C>G (p.Ser653Cys)
n.330-3781G>C
6g.33441262C>TCA363621817SYNGAP1,SYNGAP1-AS1c.1745C>T (p.Ser582Phe)
c.2003C>T (p.Ser668Phe)
c.*400C>T (n.*400C>T)
c.1826C>T (p.Ser609Phe)
c.1958C>T (p.Ser653Phe)
n.330-3781G>A
 ClinVar dbSNP
6g.33441263C>ACA450103374SYNGAP1,SYNGAP1-AS1c.1746C>A (p.Ser582=)
c.2004C>A (p.Ser668=)
c.*401C>A (n.*401C>A)
c.1827C>A (p.Ser609=)
c.1959C>A (p.Ser653=)
n.330-3782G>T
6g.33441263C>GCA450103375SYNGAP1,SYNGAP1-AS1c.1746C>G (p.Ser582=)
c.2004C>G (p.Ser668=)
c.*401C>G (n.*401C>G)
c.1827C>G (p.Ser609=)
c.1959C>G (p.Ser653=)
n.330-3782G>C
6g.33441263C>TCA450103376SYNGAP1,SYNGAP1-AS1c.1746C>T (p.Ser582=)
c.2004C>T (p.Ser668=)
c.*401C>T (n.*401C>T)
c.1827C>T (p.Ser609=)
c.1959C>T (p.Ser653=)
n.330-3782G>A
6g.33441264A>CCA363621819SYNGAP1,SYNGAP1-AS1c.1747A>C (p.Asn583His)
c.2005A>C (p.Asn669His)
c.*402A>C (n.*402A>C)
c.1828A>C (p.Asn610His)
c.1960A>C (p.Asn654His)
n.330-3783T>G
6g.33441264A>GCA363621822SYNGAP1,SYNGAP1-AS1c.1747A>G (p.Asn583Asp)
c.2005A>G (p.Asn669Asp)
c.*402A>G (n.*402A>G)
c.1828A>G (p.Asn610Asp)
c.1960A>G (p.Asn654Asp)
n.330-3783T>C
6g.33441264A>TCA363621823SYNGAP1,SYNGAP1-AS1c.1747A>T (p.Asn583Tyr)
c.2005A>T (p.Asn669Tyr)
c.*402A>T (n.*402A>T)
c.1828A>T (p.Asn610Tyr)
c.1960A>T (p.Asn654Tyr)
n.330-3783T>A
6g.33441265A=CA1620013733SYNGAP1,SYNGAP1-AS1c.1748A= (p.Asn583=)
c.2006A= (p.Asn669=)
c.*403A= (n.*403A=)
c.1829A= (p.Asn610=)
c.1961A= (p.Asn654=)
n.330-3784T=
6g.33441265A>CCA363621826SYNGAP1,SYNGAP1-AS1c.1748A>C (p.Asn583Thr)
c.2006A>C (p.Asn669Thr)
c.*403A>C (n.*403A>C)
c.1829A>C (p.Asn610Thr)
c.1961A>C (p.Asn654Thr)
n.330-3784T>G
6g.33441265A>GCA3758767SYNGAP1,SYNGAP1-AS1c.1748A>G (p.Asn583Ser)
c.2006A>G (p.Asn669Ser)
c.*403A>G (n.*403A>G)
c.1829A>G (p.Asn610Ser)
c.1961A>G (p.Asn654Ser)
n.330-3784T>C
 dbSNP ExAC gnomAD v4
6g.33441265A>TCA363621828SYNGAP1,SYNGAP1-AS1c.1748A>T (p.Asn583Ile)
c.2006A>T (p.Asn669Ile)
c.*403A>T (n.*403A>T)
c.1829A>T (p.Asn610Ile)
c.1961A>T (p.Asn654Ile)
n.330-3784T>A
6g.33441266T>ACA363621829SYNGAP1,SYNGAP1-AS1c.1749T>A (p.Asn583Lys)
c.2007T>A (p.Asn669Lys)
c.*404T>A (n.*404T>A)
c.1830T>A (p.Asn610Lys)
c.1962T>A (p.Asn654Lys)
n.330-3785A>T
6g.33441266T>CCA3758768SYNGAP1,SYNGAP1-AS1c.1749T>C (p.Asn583=)
c.2007T>C (p.Asn669=)
c.*404T>C (n.*404T>C)
c.1830T>C (p.Asn610=)
c.1962T>C (p.Asn654=)
n.330-3785A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6g.33441266T>GCA363621830SYNGAP1,SYNGAP1-AS1c.1749T>G (p.Asn583Lys)
c.2007T>G (p.Asn669Lys)
c.*404T>G (n.*404T>G)
c.1830T>G (p.Asn610Lys)
c.1962T>G (p.Asn654Lys)
n.330-3785A>C
6g.33441266T=CA1620013734SYNGAP1,SYNGAP1-AS1c.1749T= (p.Asn583=)
c.2007T= (p.Asn669=)
c.*404T= (n.*404T=)
c.1830T= (p.Asn610=)
c.1962T= (p.Asn654=)
n.330-3785A=
6g.33441267C>ACA363621832SYNGAP1,SYNGAP1-AS1c.1750C>A (p.Leu584Met)
c.2008C>A (p.Leu670Met)
c.*405C>A (n.*405C>A)
c.1831C>A (p.Leu611Met)
c.1963C>A (p.Leu655Met)
n.330-3786G>T
 gnomAD v4
6g.33441267C=CA1620013735SYNGAP1,SYNGAP1-AS1c.1750C= (p.Leu584=)
c.2008C= (p.Leu670=)
c.*405C= (n.*405C=)
c.1831C= (p.Leu611=)
c.1963C= (p.Leu655=)
n.330-3786G=
6g.33441267C>GCA363621833SYNGAP1,SYNGAP1-AS1c.1750C>G (p.Leu584Val)
c.2008C>G (p.Leu670Val)
c.*405C>G (n.*405C>G)
c.1831C>G (p.Leu611Val)
c.1963C>G (p.Leu655Val)
n.330-3786G>C
6g.33441267C>TCA450103377SYNGAP1,SYNGAP1-AS1c.1750C>T (p.Leu584=)
c.2008C>T (p.Leu670=)
c.*405C>T (n.*405C>T)
c.1831C>T (p.Leu611=)
c.1963C>T (p.Leu655=)
n.330-3786G>A
 dbSNP gnomAD v2 gnomAD v4
6g.33441268T>ACA363621835SYNGAP1,SYNGAP1-AS1c.1751T>A (p.Leu584Gln)
c.2009T>A (p.Leu670Gln)
c.*406T>A (n.*406T>A)
c.1832T>A (p.Leu611Gln)
c.1964T>A (p.Leu655Gln)
n.330-3787A>T
6g.33441268T>CCA363621836SYNGAP1,SYNGAP1-AS1c.1751T>C (p.Leu584Pro)
c.2009T>C (p.Leu670Pro)
c.*406T>C (n.*406T>C)
c.1832T>C (p.Leu611Pro)
c.1964T>C (p.Leu655Pro)
n.330-3787A>G
6g.33441268T>GCA363621837SYNGAP1,SYNGAP1-AS1c.1751T>G (p.Leu584Arg)
c.2009T>G (p.Leu670Arg)
c.*406T>G (n.*406T>G)
c.1832T>G (p.Leu611Arg)
c.1964T>G (p.Leu655Arg)
n.330-3787A>C
6g.33441269G>ACA450103381SYNGAP1,SYNGAP1-AS1c.1752G>A (p.Leu584=)
c.2010G>A (p.Leu670=)
c.*407G>A (n.*407G>A)
c.1833G>A (p.Leu611=)
c.1965G>A (p.Leu655=)
n.330-3788C>T
6g.33441269G>CCA450103380SYNGAP1,SYNGAP1-AS1c.1752G>C (p.Leu584=)
c.2010G>C (p.Leu670=)
c.*407G>C (n.*407G>C)
c.1833G>C (p.Leu611=)
c.1965G>C (p.Leu655=)
n.330-3788C>G
6g.33441269G>TCA450103379SYNGAP1,SYNGAP1-AS1c.1752G>T (p.Leu584=)
c.2010G>T (p.Leu670=)
c.*407G>T (n.*407G>T)
c.1833G>T (p.Leu611=)
c.1965G>T (p.Leu655=)
n.330-3788C>A
6g.33441270G>ACA363621840SYNGAP1,SYNGAP1-AS1c.1753G>A (p.Asp585Asn)
c.2011G>A (p.Asp671Asn)
c.*408G>A (n.*408G>A)
c.1834G>A (p.Asp612Asn)
c.1966G>A (p.Asp656Asn)
n.330-3789C>T
 gnomAD v4
6g.33441270G>CCA363621841SYNGAP1,SYNGAP1-AS1c.1753G>C (p.Asp585His)
c.2011G>C (p.Asp671His)
c.*408G>C (n.*408G>C)
c.1834G>C (p.Asp612His)
c.1966G>C (p.Asp656His)
n.330-3789C>G
6g.33441270G=CA1620013736SYNGAP1,SYNGAP1-AS1c.1753G= (p.Asp585=)
c.2011G= (p.Asp671=)
c.*408G= (n.*408G=)
c.1834G= (p.Asp612=)
c.1966G= (p.Asp656=)
n.330-3789C=
6g.33441270G>TCA363621842SYNGAP1,SYNGAP1-AS1c.1753G>T (p.Asp585Tyr)
c.2011G>T (p.Asp671Tyr)
c.*408G>T (n.*408G>T)
c.1834G>T (p.Asp612Tyr)
c.1966G>T (p.Asp656Tyr)
n.330-3789C>A
 dbSNP
6g.33441271A>CCA363621847SYNGAP1,SYNGAP1-AS1c.1754A>C (p.Asp585Ala)
c.2012A>C (p.Asp671Ala)
c.*409A>C (n.*409A>C)
c.1835A>C (p.Asp612Ala)
c.1967A>C (p.Asp656Ala)
n.330-3790T>G
6g.33441271A>GCA363621848SYNGAP1,SYNGAP1-AS1c.1754A>G (p.Asp585Gly)
c.2012A>G (p.Asp671Gly)
c.*409A>G (n.*409A>G)
c.1835A>G (p.Asp612Gly)
c.1967A>G (p.Asp656Gly)
n.330-3790T>C
 COSMIC COSMIC
6g.33441271A>TCA363621845SYNGAP1,SYNGAP1-AS1c.1754A>T (p.Asp585Val)
c.2012A>T (p.Asp671Val)
c.*409A>T (n.*409A>T)
c.1835A>T (p.Asp612Val)
c.1967A>T (p.Asp656Val)
n.330-3790T>A
6g.33441272C>ACA363621851SYNGAP1,SYNGAP1-AS1c.1755C>A (p.Asp585Glu)
c.2013C>A (p.Asp671Glu)
c.*410C>A (n.*410C>A)
c.1836C>A (p.Asp612Glu)
c.1968C>A (p.Asp656Glu)
n.330-3791G>T
6g.33441272C>GCA363621856SYNGAP1,SYNGAP1-AS1c.1755C>G (p.Asp585Glu)
c.2013C>G (p.Asp671Glu)
c.*410C>G (n.*410C>G)
c.1836C>G (p.Asp612Glu)
c.1968C>G (p.Asp656Glu)
n.330-3791G>C
6g.33441272C>TCA450103382SYNGAP1,SYNGAP1-AS1c.1755C>T (p.Asp585=)
c.2013C>T (p.Asp671=)
c.*410C>T (n.*410C>T)
c.1836C>T (p.Asp612=)
c.1968C>T (p.Asp656=)
n.330-3791G>A
 gnomAD v4
6g.33441273delCA2695202905SYNGAP1,SYNGAP1-AS1c.1756del (p.Thr586ArgfsTer2)
c.2014del (p.Thr672ArgfsTer2)
c.*411del (n.*411del)
c.1837del (p.Thr613ArgfsTer2)
c.1969del (p.Thr657ArgfsTer2)
n.330-3792del
 ClinVar
6g.33441273A=CA1620013737SYNGAP1,SYNGAP1-AS1c.1756A= (p.Thr586=)
c.2014A= (p.Thr672=)
c.*411A= (n.*411A=)
c.1837A= (p.Thr613=)
c.1969A= (p.Thr657=)
n.330-3792T=
6g.33441273A>CCA363621859SYNGAP1,SYNGAP1-AS1c.1756A>C (p.Thr586Pro)
c.2014A>C (p.Thr672Pro)
c.*411A>C (n.*411A>C)
c.1837A>C (p.Thr613Pro)
c.1969A>C (p.Thr657Pro)
n.330-3792T>G
6g.33441273A>GCA363621860SYNGAP1,SYNGAP1-AS1c.1756A>G (p.Thr586Ala)
c.2014A>G (p.Thr672Ala)
c.*411A>G (n.*411A>G)
c.1837A>G (p.Thr613Ala)
c.1969A>G (p.Thr657Ala)
n.330-3792T>C
 ClinVar dbSNP gnomAD v4
6g.33441273A>TCA363621861SYNGAP1,SYNGAP1-AS1c.1756A>T (p.Thr586Ser)
c.2014A>T (p.Thr672Ser)
c.*411A>T (n.*411A>T)
c.1837A>T (p.Thr613Ser)
c.1969A>T (p.Thr657Ser)
n.330-3792T>A
6g.33441274C>ACA363621873SYNGAP1,SYNGAP1-AS1c.1757C>A (p.Thr586Lys)
c.2015C>A (p.Thr672Lys)
c.*412C>A (n.*412C>A)
c.1838C>A (p.Thr613Lys)
c.1970C>A (p.Thr657Lys)
n.330-3793G>T
 ClinVar
6g.33441274C=CA1620013738SYNGAP1,SYNGAP1-AS1c.1757C= (p.Thr586=)
c.2015C= (p.Thr672=)
c.*412C= (n.*412C=)
c.1838C= (p.Thr613=)
c.1970C= (p.Thr657=)
n.330-3793G=
6g.33441274C>GCA363621866SYNGAP1,SYNGAP1-AS1c.1757C>G (p.Thr586Arg)
c.2015C>G (p.Thr672Arg)
c.*412C>G (n.*412C>G)
c.1838C>G (p.Thr613Arg)
c.1970C>G (p.Thr657Arg)
n.330-3793G>C
6g.33441274C>TCA363621864SYNGAP1,SYNGAP1-AS1c.1757C>T (p.Thr586Met)
c.2015C>T (p.Thr672Met)
c.*412C>T (n.*412C>T)
c.1838C>T (p.Thr613Met)
c.1970C>T (p.Thr657Met)
n.330-3793G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.33441275G>ACA3758769SYNGAP1,SYNGAP1-AS1c.1758G>A (p.Thr586=)
c.2016G>A (p.Thr672=)
c.*413G>A (n.*413G>A)
c.1839G>A (p.Thr613=)
c.1971G>A (p.Thr657=)
n.330-3794C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.33441275G>CCA450103384SYNGAP1,SYNGAP1-AS1c.1758G>C (p.Thr586=)
c.2016G>C (p.Thr672=)
c.*413G>C (n.*413G>C)
c.1839G>C (p.Thr613=)
c.1971G>C (p.Thr657=)
n.330-3794C>G
6g.33441275G=CA1620013739SYNGAP1,SYNGAP1-AS1c.1758G= (p.Thr586=)
c.2016G= (p.Thr672=)
c.*413G= (n.*413G=)
c.1839G= (p.Thr613=)
c.1971G= (p.Thr657=)
n.330-3794C=
6g.33441275G>TCA450103385SYNGAP1,SYNGAP1-AS1c.1758G>T (p.Thr586=)
c.2016G>T (p.Thr672=)
c.*413G>T (n.*413G>T)
c.1839G>T (p.Thr613=)
c.1971G>T (p.Thr657=)
n.330-3794C>A
6g.33441276C>ACA363621877SYNGAP1,SYNGAP1-AS1c.1759C>A (p.Leu587Ile)
c.2017C>A (p.Leu673Ile)
c.*414C>A (n.*414C>A)
c.1840C>A (p.Leu614Ile)
c.1972C>A (p.Leu658Ile)
n.330-3795G>T
6g.33441276C=CA1620013740SYNGAP1,SYNGAP1-AS1c.1759C= (p.Leu587=)
c.2017C= (p.Leu673=)
c.*414C= (n.*414C=)
c.1840C= (p.Leu614=)
c.1972C= (p.Leu658=)
n.330-3795G=
6g.33441276C>GCA363621880SYNGAP1,SYNGAP1-AS1c.1759C>G (p.Leu587Val)
c.2017C>G (p.Leu673Val)
c.*414C>G (n.*414C>G)
c.1840C>G (p.Leu614Val)
c.1972C>G (p.Leu658Val)
n.330-3795G>C
6g.33441276C>TCA450103386SYNGAP1,SYNGAP1-AS1c.1759C>T (p.Leu587=)
c.2017C>T (p.Leu673=)
c.*414C>T (n.*414C>T)
c.1840C>T (p.Leu614=)
c.1972C>T (p.Leu658=)
n.330-3795G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.33441277T>ACA363621889SYNGAP1,SYNGAP1-AS1c.1760T>A (p.Leu587Gln)
c.2018T>A (p.Leu673Gln)
c.*415T>A (n.*415T>A)
c.1841T>A (p.Leu614Gln)
c.1973T>A (p.Leu658Gln)
n.330-3796A>T
6g.33441277T>CCA363621892SYNGAP1,SYNGAP1-AS1c.1760T>C (p.Leu587Pro)
c.2018T>C (p.Leu673Pro)
c.*415T>C (n.*415T>C)
c.1841T>C (p.Leu614Pro)
c.1973T>C (p.Leu658Pro)
n.330-3796A>G
6g.33441277T>GCA363621898SYNGAP1,SYNGAP1-AS1c.1760T>G (p.Leu587Arg)
c.2018T>G (p.Leu673Arg)
c.*415T>G (n.*415T>G)
c.1841T>G (p.Leu614Arg)
c.1973T>G (p.Leu658Arg)
n.330-3796A>C
6g.33441278A>CCA450103387SYNGAP1,SYNGAP1-AS1c.1761A>C (p.Leu587=)
c.2019A>C (p.Leu673=)
c.*416A>C (n.*416A>C)
c.1842A>C (p.Leu614=)
c.1974A>C (p.Leu658=)
n.330-3797T>G
6g.33441278A>GCA450103388SYNGAP1,SYNGAP1-AS1c.1761A>G (p.Leu587=)
c.2019A>G (p.Leu673=)
c.*416A>G (n.*416A>G)
c.1842A>G (p.Leu614=)
c.1974A>G (p.Leu658=)
n.330-3797T>C
6g.33441278A>TCA450103389SYNGAP1,SYNGAP1-AS1c.1761A>T (p.Leu587=)
c.2019A>T (p.Leu673=)
c.*416A>T (n.*416A>T)
c.1842A>T (p.Leu614=)
c.1974A>T (p.Leu658=)
n.330-3797T>A
 gnomAD v4
6g.33441279A>CCA363621912SYNGAP1,SYNGAP1-AS1c.1762A>C (p.Thr588Pro)
c.2020A>C (p.Thr674Pro)
c.*417A>C (n.*417A>C)
c.1843A>C (p.Thr615Pro)
c.1975A>C (p.Thr659Pro)
n.330-3798T>G
6g.33441279A>GCA363621902SYNGAP1,SYNGAP1-AS1c.1762A>G (p.Thr588Ala)
c.2020A>G (p.Thr674Ala)
c.*417A>G (n.*417A>G)
c.1843A>G (p.Thr615Ala)
c.1975A>G (p.Thr659Ala)
n.330-3798T>C
6g.33441279A>TCA363621911SYNGAP1,SYNGAP1-AS1c.1762A>T (p.Thr588Ser)
c.2020A>T (p.Thr674Ser)
c.*417A>T (n.*417A>T)
c.1843A>T (p.Thr615Ser)
c.1975A>T (p.Thr659Ser)
n.330-3798T>A
6g.33441280C>ACA363621915SYNGAP1,SYNGAP1-AS1c.1763C>A (p.Thr588Asn)
c.2021C>A (p.Thr674Asn)
c.*418C>A (n.*418C>A)
c.1844C>A (p.Thr615Asn)
c.1976C>A (p.Thr659Asn)
n.330-3799G>T
6g.33441280C=CA1620013741SYNGAP1,SYNGAP1-AS1c.1763C= (p.Thr588=)
c.2021C= (p.Thr674=)
c.*418C= (n.*418C=)
c.1844C= (p.Thr615=)
c.1976C= (p.Thr659=)
n.330-3799G=
6g.33441280C>GCA363621916SYNGAP1,SYNGAP1-AS1c.1763C>G (p.Thr588Ser)
c.2021C>G (p.Thr674Ser)
c.*418C>G (n.*418C>G)
c.1844C>G (p.Thr615Ser)
c.1976C>G (p.Thr659Ser)
n.330-3799G>C
6g.33441280C>TCA3758770SYNGAP1,SYNGAP1-AS1c.1763C>T (p.Thr588Ile)
c.2021C>T (p.Thr674Ile)
c.*418C>T (n.*418C>T)
c.1844C>T (p.Thr615Ile)
c.1976C>T (p.Thr659Ile)
n.330-3799G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.33441281C>ACA3758771SYNGAP1,SYNGAP1-AS1c.1764C>A (p.Thr588=)
c.2022C>A (p.Thr674=)
c.*419C>A (n.*419C>A)
c.1845C>A (p.Thr615=)
c.1977C>A (p.Thr659=)
n.330-3800G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.33441281C=CA1620013742SYNGAP1,SYNGAP1-AS1c.1764C= (p.Thr588=)
c.2022C= (p.Thr674=)
c.*419C= (n.*419C=)
c.1845C= (p.Thr615=)
c.1977C= (p.Thr659=)
n.330-3800G=
6g.33441281C>GCA450103390SYNGAP1,SYNGAP1-AS1c.1764C>G (p.Thr588=)
c.2022C>G (p.Thr674=)
c.*419C>G (n.*419C>G)
c.1845C>G (p.Thr615=)
c.1977C>G (p.Thr659=)
n.330-3800G>C
6g.33441281C>TCA450103391SYNGAP1,SYNGAP1-AS1c.1764C>T (p.Thr588=)
c.2022C>T (p.Thr674=)
c.*419C>T (n.*419C>T)
c.1845C>T (p.Thr615=)
c.1977C>T (p.Thr659=)
n.330-3800G>A
6g.33441282A>CCA363621921SYNGAP1,SYNGAP1-AS1c.1765A>C (p.Asn589His)
c.2023A>C (p.Asn675His)
c.*420A>C (n.*420A>C)
c.1846A>C (p.Asn616His)
c.1978A>C (p.Asn660His)
n.330-3801T>G
6g.33441282A>GCA363621922SYNGAP1,SYNGAP1-AS1c.1765A>G (p.Asn589Asp)
c.2023A>G (p.Asn675Asp)
c.*420A>G (n.*420A>G)
c.1846A>G (p.Asn616Asp)
c.1978A>G (p.Asn660Asp)
n.330-3801T>C
6g.33441282A>TCA363621925SYNGAP1,SYNGAP1-AS1c.1765A>T (p.Asn589Tyr)
c.2023A>T (p.Asn675Tyr)
c.*420A>T (n.*420A>T)
c.1846A>T (p.Asn616Tyr)
c.1978A>T (p.Asn660Tyr)
n.330-3801T>A
6g.33441283A>CCA363621928SYNGAP1,SYNGAP1-AS1c.1766A>C (p.Asn589Thr)
c.2024A>C (p.Asn675Thr)
c.*421A>C (n.*421A>C)
c.1847A>C (p.Asn616Thr)
c.1979A>C (p.Asn660Thr)
n.330-3802T>G
6g.33441283A>GCA363621930SYNGAP1,SYNGAP1-AS1c.1766A>G (p.Asn589Ser)
c.2024A>G (p.Asn675Ser)
c.*421A>G (n.*421A>G)
c.1847A>G (p.Asn616Ser)
c.1979A>G (p.Asn660Ser)
n.330-3802T>C
6g.33441283A>TCA363621936SYNGAP1,SYNGAP1-AS1c.1766A>T (p.Asn589Ile)
c.2024A>T (p.Asn675Ile)
c.*421A>T (n.*421A>T)
c.1847A>T (p.Asn616Ile)
c.1979A>T (p.Asn660Ile)
n.330-3802T>A
6g.33441284C>ACA363621941SYNGAP1,SYNGAP1-AS1c.1767C>A (p.Asn589Lys)
c.2025C>A (p.Asn675Lys)
c.*422C>A (n.*422C>A)
c.1848C>A (p.Asn616Lys)
c.1980C>A (p.Asn660Lys)
n.330-3803G>T
6g.33441284C=CA1620013743SYNGAP1,SYNGAP1-AS1c.1767C= (p.Asn589=)
c.2025C= (p.Asn675=)
c.*422C= (n.*422C=)
c.1848C= (p.Asn616=)
c.1980C= (p.Asn660=)
n.330-3803G=
6g.33441284C>GCA363621948SYNGAP1,SYNGAP1-AS1c.1767C>G (p.Asn589Lys)
c.2025C>G (p.Asn675Lys)
c.*422C>G (n.*422C>G)
c.1848C>G (p.Asn616Lys)
c.1980C>G (p.Asn660Lys)
n.330-3803G>C
6g.33441284C>TCA3758772SYNGAP1,SYNGAP1-AS1c.1767C>T (p.Asn589=)
c.2025C>T (p.Asn675=)
c.*422C>T (n.*422C>T)
c.1848C>T (p.Asn616=)
c.1980C>T (p.Asn660=)
n.330-3803G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.33441285A>CCA363621964SYNGAP1,SYNGAP1-AS1c.1768A>C (p.Ser590Arg)
c.2026A>C (p.Ser676Arg)
c.*423A>C (n.*423A>C)
c.1849A>C (p.Ser617Arg)
c.1981A>C (p.Ser661Arg)
n.330-3804T>G
6g.33441285A>GCA363621955SYNGAP1,SYNGAP1-AS1c.1768A>G (p.Ser590Gly)
c.2026A>G (p.Ser676Gly)
c.*423A>G (n.*423A>G)
c.1849A>G (p.Ser617Gly)
c.1981A>G (p.Ser661Gly)
n.330-3804T>C
6g.33441285A>TCA363621963SYNGAP1,SYNGAP1-AS1c.1768A>T (p.Ser590Cys)
c.2026A>T (p.Ser676Cys)
c.*423A>T (n.*423A>T)
c.1849A>T (p.Ser617Cys)
c.1981A>T (p.Ser661Cys)
n.330-3804T>A
6g.33441286G>ACA363621966SYNGAP1,SYNGAP1-AS1c.1769G>A (p.Ser590Asn)
c.2027G>A (p.Ser676Asn)
c.*424G>A (n.*424G>A)
c.1850G>A (p.Ser617Asn)
c.1982G>A (p.Ser661Asn)
n.330-3805C>T
6g.33441286G>CCA363621968SYNGAP1,SYNGAP1-AS1c.1769G>C (p.Ser590Thr)
c.2027G>C (p.Ser676Thr)
c.*424G>C (n.*424G>C)
c.1850G>C (p.Ser617Thr)
c.1982G>C (p.Ser661Thr)
n.330-3805C>G
6g.33441286G>TCA363621970SYNGAP1,SYNGAP1-AS1c.1769G>T (p.Ser590Ile)
c.2027G>T (p.Ser676Ile)
c.*424G>T (n.*424G>T)
c.1850G>T (p.Ser617Ile)
c.1982G>T (p.Ser661Ile)
n.330-3805C>A
6g.33441287C>ACA363621973SYNGAP1,SYNGAP1-AS1c.1770C>A (p.Ser590Arg)
c.2028C>A (p.Ser676Arg)
c.*425C>A (n.*425C>A)
c.1851C>A (p.Ser617Arg)
c.1983C>A (p.Ser661Arg)
n.330-3806G>T
6g.33441287C>GCA363621977SYNGAP1,SYNGAP1-AS1c.1770C>G (p.Ser590Arg)
c.2028C>G (p.Ser676Arg)
c.*425C>G (n.*425C>G)
c.1851C>G (p.Ser617Arg)
c.1983C>G (p.Ser661Arg)
n.330-3806G>C
6g.33441287C>TCA450103392SYNGAP1,SYNGAP1-AS1c.1770C>T (p.Ser590=)
c.2028C>T (p.Ser676=)
c.*425C>T (n.*425C>T)
c.1851C>T (p.Ser617=)
c.1983C>T (p.Ser661=)
n.330-3806G>A
6g.33441288A>CCA363621994SYNGAP1,SYNGAP1-AS1c.1771A>C (p.Ser591Arg)
c.2029A>C (p.Ser677Arg)
c.*426A>C (n.*426A>C)
c.1852A>C (p.Ser618Arg)
c.1984A>C (p.Ser662Arg)
n.330-3807T>G
6g.33441288A>GCA363621996SYNGAP1,SYNGAP1-AS1c.1771A>G (p.Ser591Gly)
c.2029A>G (p.Ser677Gly)
c.*426A>G (n.*426A>G)
c.1852A>G (p.Ser618Gly)
c.1984A>G (p.Ser662Gly)
n.330-3807T>C
6g.33441288A>TCA363622001SYNGAP1,SYNGAP1-AS1c.1771A>T (p.Ser591Cys)
c.2029A>T (p.Ser677Cys)
c.*426A>T (n.*426A>T)
c.1852A>T (p.Ser618Cys)
c.1984A>T (p.Ser662Cys)
n.330-3807T>A
 ClinVar
6g.33441289G>ACA363622002SYNGAP1,SYNGAP1-AS1c.1772G>A (p.Ser591Asn)
c.2030G>A (p.Ser677Asn)
c.*427G>A (n.*427G>A)
c.1853G>A (p.Ser618Asn)
c.1985G>A (p.Ser662Asn)
n.330-3808C>T
 gnomAD v4
6g.33441289G>CCA363622004SYNGAP1,SYNGAP1-AS1c.1772G>C (p.Ser591Thr)
c.2030G>C (p.Ser677Thr)
c.*427G>C (n.*427G>C)
c.1853G>C (p.Ser618Thr)
c.1985G>C (p.Ser662Thr)
n.330-3808C>G
6g.33441289G>TCA363622007SYNGAP1,SYNGAP1-AS1c.1772G>T (p.Ser591Ile)
c.2030G>T (p.Ser677Ile)
c.*427G>T (n.*427G>T)
c.1853G>T (p.Ser618Ile)
c.1985G>T (p.Ser662Ile)
n.330-3808C>A
6g.33441290T>ACA363622009SYNGAP1,SYNGAP1-AS1c.1773T>A (p.Ser591Arg)
c.2031T>A (p.Ser677Arg)
c.*428T>A (n.*428T>A)
c.1854T>A (p.Ser618Arg)
c.1986T>A (p.Ser662Arg)
n.330-3809A>T
6g.33441290T>CCA450103393SYNGAP1,SYNGAP1-AS1c.1773T>C (p.Ser591=)
c.2031T>C (p.Ser677=)
c.*428T>C (n.*428T>C)
c.1854T>C (p.Ser618=)
c.1986T>C (p.Ser662=)
n.330-3809A>G
6g.33441290T>GCA363622014SYNGAP1,SYNGAP1-AS1c.1773T>G (p.Ser591Arg)
c.2031T>G (p.Ser677Arg)
c.*428T>G (n.*428T>G)
c.1854T>G (p.Ser618Arg)
c.1986T>G (p.Ser662Arg)
n.330-3809A>C
6g.33441291A>CCA363622046SYNGAP1,SYNGAP1-AS1c.1774A>C (p.Ser592Arg)
c.2032A>C (p.Ser678Arg)
c.*429A>C (n.*429A>C)
c.1855A>C (p.Ser619Arg)
c.1987A>C (p.Ser663Arg)
n.330-3810T>G
6g.33441291A>GCA363622044SYNGAP1,SYNGAP1-AS1c.1774A>G (p.Ser592Gly)
c.2032A>G (p.Ser678Gly)
c.*429A>G (n.*429A>G)
c.1855A>G (p.Ser619Gly)
c.1987A>G (p.Ser663Gly)
n.330-3810T>C
6g.33441291A>TCA363622038SYNGAP1,SYNGAP1-AS1c.1774A>T (p.Ser592Cys)
c.2032A>T (p.Ser678Cys)
c.*429A>T (n.*429A>T)
c.1855A>T (p.Ser619Cys)
c.1987A>T (p.Ser663Cys)
n.330-3810T>A
6g.33441292G>ACA363622050SYNGAP1,SYNGAP1-AS1c.1775G>A (p.Ser592Asn)
c.2033G>A (p.Ser678Asn)
c.*430G>A (n.*430G>A)
c.1856G>A (p.Ser619Asn)
c.1988G>A (p.Ser663Asn)
n.330-3811C>T
 dbSNP gnomAD v4
6g.33441292G>CCA363622054SYNGAP1,SYNGAP1-AS1c.1775G>C (p.Ser592Thr)
c.2033G>C (p.Ser678Thr)
c.*430G>C (n.*430G>C)
c.1856G>C (p.Ser619Thr)
c.1988G>C (p.Ser663Thr)
n.330-3811C>G
6g.33441292G=CA1620013744SYNGAP1,SYNGAP1-AS1c.1775G= (p.Ser592=)
c.2033G= (p.Ser678=)
c.*430G= (n.*430G=)
c.1856G= (p.Ser619=)
c.1988G= (p.Ser663=)
n.330-3811C=
6g.33441292G>TCA363622061SYNGAP1,SYNGAP1-AS1c.1775G>T (p.Ser592Ile)
c.2033G>T (p.Ser678Ile)
c.*430G>T (n.*430G>T)
c.1856G>T (p.Ser619Ile)
c.1988G>T (p.Ser663Ile)
n.330-3811C>A
6g.33441293C>ACA363622065SYNGAP1,SYNGAP1-AS1c.1776C>A (p.Ser592Arg)
c.2034C>A (p.Ser678Arg)
c.*431C>A (n.*431C>A)
c.1857C>A (p.Ser619Arg)
c.1989C>A (p.Ser663Arg)
n.330-3812G>T
6g.33441293C>GCA363622071SYNGAP1,SYNGAP1-AS1c.1776C>G (p.Ser592Arg)
c.2034C>G (p.Ser678Arg)
c.*431C>G (n.*431C>G)
c.1857C>G (p.Ser619Arg)
c.1989C>G (p.Ser663Arg)
n.330-3812G>C
6g.33441293C>TCA450103394SYNGAP1,SYNGAP1-AS1c.1776C>T (p.Ser592=)
c.2034C>T (p.Ser678=)
c.*431C>T (n.*431C>T)
c.1857C>T (p.Ser619=)
c.1989C>T (p.Ser663=)
n.330-3812G>A
 gnomAD v4
6g.33441294T>ACA363622074SYNGAP1,SYNGAP1-AS1c.1777T>A (p.Phe593Ile)
c.2035T>A (p.Phe679Ile)
c.*432T>A (n.*432T>A)
c.1858T>A (p.Phe620Ile)
c.1990T>A (p.Phe664Ile)
n.330-3813A>T
6g.33441294T>CCA363622084SYNGAP1,SYNGAP1-AS1c.1777T>C (p.Phe593Leu)
c.2035T>C (p.Phe679Leu)
c.*432T>C (n.*432T>C)
c.1858T>C (p.Phe620Leu)
c.1990T>C (p.Phe664Leu)
n.330-3813A>G
6g.33441294T>GCA363622088SYNGAP1,SYNGAP1-AS1c.1777T>G (p.Phe593Val)
c.2035T>G (p.Phe679Val)
c.*432T>G (n.*432T>G)
c.1858T>G (p.Phe620Val)
c.1990T>G (p.Phe664Val)
n.330-3813A>C
6g.33441295T>ACA363622091SYNGAP1,SYNGAP1-AS1c.1778T>A (p.Phe593Tyr)
c.2036T>A (p.Phe679Tyr)
c.*433T>A (n.*433T>A)
c.1859T>A (p.Phe620Tyr)
c.1991T>A (p.Phe664Tyr)
n.330-3814A>T
6g.33441295T>CCA363622092SYNGAP1,SYNGAP1-AS1c.1778T>C (p.Phe593Ser)
c.2036T>C (p.Phe679Ser)
c.*433T>C (n.*433T>C)
c.1859T>C (p.Phe620Ser)
c.1991T>C (p.Phe664Ser)
n.330-3814A>G
6g.33441295T>GCA363622093SYNGAP1,SYNGAP1-AS1c.1778T>G (p.Phe593Cys)
c.2036T>G (p.Phe679Cys)
c.*433T>G (n.*433T>G)
c.1859T>G (p.Phe620Cys)
c.1991T>G (p.Phe664Cys)
n.330-3814A>C
6g.33441296T>ACA363622094SYNGAP1,SYNGAP1-AS1c.1779T>A (p.Phe593Leu)
c.2037T>A (p.Phe679Leu)
c.*434T>A (n.*434T>A)
c.1860T>A (p.Phe620Leu)
c.1992T>A (p.Phe664Leu)
n.330-3815A>T
6g.33441296T>CCA450103395SYNGAP1,SYNGAP1-AS1c.1779T>C (p.Phe593=)
c.2037T>C (p.Phe679=)
c.*434T>C (n.*434T>C)
c.1860T>C (p.Phe620=)
c.1992T>C (p.Phe664=)
n.330-3815A>G
 ClinVar
6g.33441296T>GCA363622095SYNGAP1,SYNGAP1-AS1c.1779T>G (p.Phe593Leu)
c.2037T>G (p.Phe679Leu)
c.*434T>G (n.*434T>G)
c.1860T>G (p.Phe620Leu)
c.1992T>G (p.Phe664Leu)
n.330-3815A>C
6g.33441297G>ACA363622103SYNGAP1,SYNGAP1-AS1c.1780G>A (p.Glu594Lys)
c.2038G>A (p.Glu680Lys)
c.*435G>A (n.*435G>A)
c.1861G>A (p.Glu621Lys)
c.1993G>A (p.Glu665Lys)
n.330-3816C>T
6g.33441297G>CCA363622107SYNGAP1,SYNGAP1-AS1c.1780G>C (p.Glu594Gln)
c.2038G>C (p.Glu680Gln)
c.*435G>C (n.*435G>C)
c.1861G>C (p.Glu621Gln)
c.1993G>C (p.Glu665Gln)
n.330-3816C>G
6g.33441297G=CA1620013745SYNGAP1,SYNGAP1-AS1c.1780G= (p.Glu594=)
c.2038G= (p.Glu680=)
c.*435G= (n.*435G=)
c.1861G= (p.Glu621=)
c.1993G= (p.Glu665=)
n.330-3816C=
6g.33441297G>TCA363622099SYNGAP1,SYNGAP1-AS1c.1780G>T (p.Glu594Ter)
c.2038G>T (p.Glu680Ter)
c.*435G>T (n.*435G>T)
c.1861G>T (p.Glu621Ter)
c.1993G>T (p.Glu665Ter)
n.330-3816C>A
 dbSNP
6g.33441298A>CCA363622110SYNGAP1,SYNGAP1-AS1c.1781A>C (p.Glu594Ala)
c.2039A>C (p.Glu680Ala)
c.*436A>C (n.*436A>C)
c.1862A>C (p.Glu621Ala)
c.1994A>C (p.Glu665Ala)
n.330-3817T>G
6g.33441298A>GCA363622111SYNGAP1,SYNGAP1-AS1c.1781A>G (p.Glu594Gly)
c.2039A>G (p.Glu680Gly)
c.*436A>G (n.*436A>G)
c.1862A>G (p.Glu621Gly)
c.1994A>G (p.Glu665Gly)
n.330-3817T>C
6g.33441298A>TCA363622112SYNGAP1,SYNGAP1-AS1c.1781A>T (p.Glu594Val)
c.2039A>T (p.Glu680Val)
c.*436A>T (n.*436A>T)
c.1862A>T (p.Glu621Val)
c.1994A>T (p.Glu665Val)
n.330-3817T>A
6g.33441299G>ACA450103396SYNGAP1,SYNGAP1-AS1c.1782G>A (p.Glu594=)
c.2040G>A (p.Glu680=)
c.*437G>A (n.*437G>A)
c.1863G>A (p.Glu621=)
c.1995G>A (p.Glu665=)
n.330-3818C>T
 ClinVar
6g.33441299G>CCA363622115SYNGAP1,SYNGAP1-AS1c.1782G>C (p.Glu594Asp)
c.2040G>C (p.Glu680Asp)
c.*437G>C (n.*437G>C)
c.1863G>C (p.Glu621Asp)
c.1995G>C (p.Glu665Asp)
n.330-3818C>G
6g.33441299G>TCA363622118SYNGAP1,SYNGAP1-AS1c.1782G>T (p.Glu594Asp)
c.2040G>T (p.Glu680Asp)
c.*437G>T (n.*437G>T)
c.1863G>T (p.Glu621Asp)
c.1995G>T (p.Glu665Asp)
n.330-3818C>A
6g.33441300G>ACA363622136SYNGAP1,SYNGAP1-AS1c.1783G>A (p.Gly595Ser)
c.2041G>A (p.Gly681Ser)
c.*438G>A (n.*438G>A)
c.1864G>A (p.Gly622Ser)
c.1996G>A (p.Gly666Ser)
n.330-3819C>T
 dbSNP
6g.33441300G>CCA363622134SYNGAP1,SYNGAP1-AS1c.1783G>C (p.Gly595Arg)
c.2041G>C (p.Gly681Arg)
c.*438G>C (n.*438G>C)
c.1864G>C (p.Gly622Arg)
c.1996G>C (p.Gly666Arg)
n.330-3819C>G
 gnomAD v4
6g.33441300G=CA1620013746SYNGAP1,SYNGAP1-AS1c.1783G= (p.Gly595=)
c.2041G= (p.Gly681=)
c.*438G= (n.*438G=)
c.1864G= (p.Gly622=)
c.1996G= (p.Gly666=)
n.330-3819C=
6g.33441300G>TCA363622122SYNGAP1,SYNGAP1-AS1c.1783G>T (p.Gly595Cys)
c.2041G>T (p.Gly681Cys)
c.*438G>T (n.*438G>T)
c.1864G>T (p.Gly622Cys)
c.1996G>T (p.Gly666Cys)
n.330-3819C>A
6g.33441301G>ACA363622145SYNGAP1,SYNGAP1-AS1c.1784G>A (p.Gly595Asp)
c.2042G>A (p.Gly681Asp)
c.*439G>A (n.*439G>A)
c.1865G>A (p.Gly622Asp)
c.1997G>A (p.Gly666Asp)
n.330-3820C>T
6g.33441301G>CCA363622152SYNGAP1,SYNGAP1-AS1c.1784G>C (p.Gly595Ala)
c.2042G>C (p.Gly681Ala)
c.*439G>C (n.*439G>C)
c.1865G>C (p.Gly622Ala)
c.1997G>C (p.Gly666Ala)
n.330-3820C>G
6g.33441301G>TCA363622154SYNGAP1,SYNGAP1-AS1c.1784G>T (p.Gly595Val)
c.2042G>T (p.Gly681Val)
c.*439G>T (n.*439G>T)
c.1865G>T (p.Gly622Val)
c.1997G>T (p.Gly666Val)
n.330-3820C>A
6g.33441302T>ACA450103399SYNGAP1,SYNGAP1-AS1c.1785T>A (p.Gly595=)
c.2043T>A (p.Gly681=)
c.*440T>A (n.*440T>A)
c.1866T>A (p.Gly622=)
c.1998T>A (p.Gly666=)
n.330-3821A>T
6g.33441302T>CCA450103398SYNGAP1,SYNGAP1-AS1c.1785T>C (p.Gly595=)
c.2043T>C (p.Gly681=)
c.*440T>C (n.*440T>C)
c.1866T>C (p.Gly622=)
c.1998T>C (p.Gly666=)
n.330-3821A>G
 dbSNP
6g.33441302T>GCA450103397SYNGAP1,SYNGAP1-AS1c.1785T>G (p.Gly595=)
c.2043T>G (p.Gly681=)
c.*440T>G (n.*440T>G)
c.1866T>G (p.Gly622=)
c.1998T>G (p.Gly666=)
n.330-3821A>C
 dbSNP gnomAD v3 gnomAD v4
6g.33441302T=CA1620013747SYNGAP1,SYNGAP1-AS1c.1785T= (p.Gly595=)
c.2043T= (p.Gly681=)
c.*440T= (n.*440T=)
c.1866T= (p.Gly622=)
c.1998T= (p.Gly666=)
n.330-3821A=
6g.33441303T>ACA363622168SYNGAP1,SYNGAP1-AS1c.1786T>A (p.Tyr596Asn)
c.2044T>A (p.Tyr682Asn)
c.*441T>A (n.*441T>A)
c.1867T>A (p.Tyr623Asn)
c.1999T>A (p.Tyr667Asn)
n.330-3822A>T
6g.33441303T>CCA363622171SYNGAP1,SYNGAP1-AS1c.1786T>C (p.Tyr596His)
c.2044T>C (p.Tyr682His)
c.*441T>C (n.*441T>C)
c.1867T>C (p.Tyr623His)
c.1999T>C (p.Tyr667His)
n.330-3822A>G
6g.33441303T>GCA363622172SYNGAP1,SYNGAP1-AS1c.1786T>G (p.Tyr596Asp)
c.2044T>G (p.Tyr682Asp)
c.*441T>G (n.*441T>G)
c.1867T>G (p.Tyr623Asp)
c.1999T>G (p.Tyr667Asp)
n.330-3822A>C
6g.33441304A>CCA363622221SYNGAP1,SYNGAP1-AS1c.1787A>C (p.Tyr596Ser)
c.2045A>C (p.Tyr682Ser)
c.*442A>C (n.*442A>C)
c.1868A>C (p.Tyr623Ser)
c.2000A>C (p.Tyr667Ser)
n.330-3823T>G
6g.33441304A>GCA363622214SYNGAP1,SYNGAP1-AS1c.1787A>G (p.Tyr596Cys)
c.2045A>G (p.Tyr682Cys)
c.*442A>G (n.*442A>G)
c.1868A>G (p.Tyr623Cys)
c.2000A>G (p.Tyr667Cys)
n.330-3823T>C
6g.33441304A>TCA363622217SYNGAP1,SYNGAP1-AS1c.1787A>T (p.Tyr596Phe)
c.2045A>T (p.Tyr682Phe)
c.*442A>T (n.*442A>T)
c.1868A>T (p.Tyr623Phe)
c.2000A>T (p.Tyr667Phe)
n.330-3823T>A
6g.33441305C>ACA363622223SYNGAP1,SYNGAP1-AS1c.1788C>A (p.Tyr596Ter)
c.2046C>A (p.Tyr682Ter)
c.*443C>A (n.*443C>A)
c.1869C>A (p.Tyr623Ter)
c.2001C>A (p.Tyr667Ter)
n.330-3824G>T
6g.33441305C>GCA363622224SYNGAP1,SYNGAP1-AS1c.1788C>G (p.Tyr596Ter)
c.2046C>G (p.Tyr682Ter)
c.*443C>G (n.*443C>G)
c.1869C>G (p.Tyr623Ter)
c.2001C>G (p.Tyr667Ter)
n.330-3824G>C
6g.33441305C>TCA450103400SYNGAP1,SYNGAP1-AS1c.1788C>T (p.Tyr596=)
c.2046C>T (p.Tyr682=)
c.*443C>T (n.*443C>T)
c.1869C>T (p.Tyr623=)
c.2001C>T (p.Tyr667=)
n.330-3824G>A
6g.33441306A=CA1620013748SYNGAP1,SYNGAP1-AS1c.1789A= (p.Ile597=)
c.2047A= (p.Ile683=)
c.*444A= (n.*444A=)
c.1870A= (p.Ile624=)
c.2002A= (p.Ile668=)
n.330-3825T=
6g.33441306A>CCA363622226SYNGAP1,SYNGAP1-AS1c.1789A>C (p.Ile597Leu)
c.2047A>C (p.Ile683Leu)
c.*444A>C (n.*444A>C)
c.1870A>C (p.Ile624Leu)
c.2002A>C (p.Ile668Leu)
n.330-3825T>G
6g.33441306A>GCA137071280SYNGAP1,SYNGAP1-AS1c.1789A>G (p.Ile597Val)
c.2047A>G (p.Ile683Val)
c.*444A>G (n.*444A>G)
c.1870A>G (p.Ile624Val)
c.2002A>G (p.Ile668Val)
n.330-3825T>C
 ClinVar dbSNP gnomAD v4
6g.33441306A>TCA363622230SYNGAP1,SYNGAP1-AS1c.1789A>T (p.Ile597Phe)
c.2047A>T (p.Ile683Phe)
c.*444A>T (n.*444A>T)
c.1870A>T (p.Ile624Phe)
c.2002A>T (p.Ile668Phe)
n.330-3825T>A
6g.33441307T>ACA363622233SYNGAP1,SYNGAP1-AS1c.1790T>A (p.Ile597Asn)
c.2048T>A (p.Ile683Asn)
c.*445T>A (n.*445T>A)
c.1871T>A (p.Ile624Asn)
c.2003T>A (p.Ile668Asn)
n.330-3826A>T
6g.33441307T>CCA363622237SYNGAP1,SYNGAP1-AS1c.1790T>C (p.Ile597Thr)
c.2048T>C (p.Ile683Thr)
c.*445T>C (n.*445T>C)
c.1871T>C (p.Ile624Thr)
c.2003T>C (p.Ile668Thr)
n.330-3826A>G
6g.33441307T>GCA363622241SYNGAP1,SYNGAP1-AS1c.1790T>G (p.Ile597Ser)
c.2048T>G (p.Ile683Ser)
c.*445T>G (n.*445T>G)
c.1871T>G (p.Ile624Ser)
c.2003T>G (p.Ile668Ser)
n.330-3826A>C
6g.33441308C>ACA450103401SYNGAP1,SYNGAP1-AS1c.1791C>A (p.Ile597=)
c.2049C>A (p.Ile683=)
n.1C>A
c.*446C>A (n.*446C>A)
c.1872C>A (p.Ile624=)
c.2004C>A (p.Ile668=)
n.330-3827G>T
 dbSNP
6g.33441308C=CA1620013749SYNGAP1,SYNGAP1-AS1c.1791C= (p.Ile597=)
c.2049C= (p.Ile683=)
n.1C=
c.*446C= (n.*446C=)
c.1872C= (p.Ile624=)
c.2004C= (p.Ile668=)
n.330-3827G=
6g.33441308C>GCA363622245SYNGAP1,SYNGAP1-AS1c.1791C>G (p.Ile597Met)
c.2049C>G (p.Ile683Met)
n.1C>G
c.*446C>G (n.*446C>G)
c.1872C>G (p.Ile624Met)
c.2004C>G (p.Ile668Met)
n.330-3827G>C
6g.33441308C>TCA3758773SYNGAP1,SYNGAP1-AS1c.1791C>T (p.Ile597=)
c.2049C>T (p.Ile683=)
n.1C>T
c.*446C>T (n.*446C>T)
c.1872C>T (p.Ile624=)
c.2004C>T (p.Ile668=)
n.330-3827G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.33441309G>ACA363622249SYNGAP1,SYNGAP1-AS1c.1792G>A (p.Asp598Asn)
c.2050G>A (p.Asp684Asn)
n.2G>A
c.*447G>A (n.*447G>A)
c.1873G>A (p.Asp625Asn)
c.2005G>A (p.Asp669Asn)
n.330-3828C>T
 dbSNP
6g.33441309G>CCA363622253SYNGAP1,SYNGAP1-AS1c.1792G>C (p.Asp598His)
c.2050G>C (p.Asp684His)
n.2G>C
c.*447G>C (n.*447G>C)
c.1873G>C (p.Asp625His)
c.2005G>C (p.Asp669His)
n.330-3828C>G
 ClinVar
6g.33441309G>TCA363622259SYNGAP1,SYNGAP1-AS1c.1792G>T (p.Asp598Tyr)
c.2050G>T (p.Asp684Tyr)
n.2G>T
c.*447G>T (n.*447G>T)
c.1873G>T (p.Asp625Tyr)
c.2005G>T (p.Asp669Tyr)
n.330-3828C>A
6g.33441310A>CCA363622262SYNGAP1,SYNGAP1-AS1c.1793A>C (p.Asp598Ala)
c.2051A>C (p.Asp684Ala)
n.3A>C
c.*448A>C (n.*448A>C)
c.1874A>C (p.Asp625Ala)
c.2006A>C (p.Asp669Ala)
n.330-3829T>G
6g.33441310A>GCA363622270SYNGAP1,SYNGAP1-AS1c.1793A>G (p.Asp598Gly)
c.2051A>G (p.Asp684Gly)
n.3A>G
c.*448A>G (n.*448A>G)
c.1874A>G (p.Asp625Gly)
c.2006A>G (p.Asp669Gly)
n.330-3829T>C
6g.33441310A>TCA363622267SYNGAP1,SYNGAP1-AS1c.1793A>T (p.Asp598Val)
c.2051A>T (p.Asp684Val)
n.3A>T
c.*448A>T (n.*448A>T)
c.1874A>T (p.Asp625Val)
c.2006A>T (p.Asp669Val)
n.330-3829T>A
6g.33441311C>ACA363622274SYNGAP1,SYNGAP1-AS1c.1794C>A (p.Asp598Glu)
c.2052C>A (p.Asp684Glu)
n.4C>A
c.*449C>A (n.*449C>A)
c.1875C>A (p.Asp625Glu)
c.2007C>A (p.Asp669Glu)
n.330-3830G>T
6g.33441311C=CA1620013750SYNGAP1,SYNGAP1-AS1c.1794C= (p.Asp598=)
c.2052C= (p.Asp684=)
n.4C=
c.*449C= (n.*449C=)
c.1875C= (p.Asp625=)
c.2007C= (p.Asp669=)
n.330-3830G=
6g.33441311C>GCA363622279SYNGAP1,SYNGAP1-AS1c.1794C>G (p.Asp598Glu)
c.2052C>G (p.Asp684Glu)
n.4C>G
c.*449C>G (n.*449C>G)
c.1875C>G (p.Asp625Glu)
c.2007C>G (p.Asp669Glu)
n.330-3830G>C
6g.33441311C>TCA3758774SYNGAP1,SYNGAP1-AS1c.1794C>T (p.Asp598=)
c.2052C>T (p.Asp684=)
n.4C>T
c.*449C>T (n.*449C>T)
c.1875C>T (p.Asp625=)
c.2007C>T (p.Asp669=)
n.330-3830G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6g.33441312T>ACA363622285SYNGAP1,SYNGAP1-AS1c.1795T>A (p.Leu599Met)
c.2053T>A (p.Leu685Met)
n.5T>A
c.*450T>A (n.*450T>A)
c.1876T>A (p.Leu626Met)
c.2008T>A (p.Leu670Met)
n.330-3831A>T
6g.33441312T>CCA450103402SYNGAP1,SYNGAP1-AS1c.1795T>C (p.Leu599=)
c.2053T>C (p.Leu685=)
n.5T>C
c.*450T>C (n.*450T>C)
c.1876T>C (p.Leu626=)
c.2008T>C (p.Leu670=)
n.330-3831A>G
 gnomAD v4
6g.33441312T>GCA363622288SYNGAP1,SYNGAP1-AS1c.1795T>G (p.Leu599Val)
c.2053T>G (p.Leu685Val)
n.5T>G
c.*450T>G (n.*450T>G)
c.1876T>G (p.Leu626Val)
c.2008T>G (p.Leu670Val)
n.330-3831A>C
6g.33441313T>ACA363622300SYNGAP1,SYNGAP1-AS1c.1796T>A (p.Leu599Ter)
c.2054T>A (p.Leu685Ter)
n.6T>A
c.*451T>A (n.*451T>A)
c.1877T>A (p.Leu626Ter)
c.2009T>A (p.Leu670Ter)
n.330-3832A>T
 dbSNP
6g.33441313T>CCA363622302SYNGAP1,SYNGAP1-AS1c.1796T>C (p.Leu599Ser)
c.2054T>C (p.Leu685Ser)
n.6T>C
c.*451T>C (n.*451T>C)
c.1877T>C (p.Leu626Ser)
c.2009T>C (p.Leu670Ser)
n.330-3832A>G
6g.33441313T>GCA363622304SYNGAP1,SYNGAP1-AS1c.1796T>G (p.Leu599Trp)
c.2054T>G (p.Leu685Trp)
n.6T>G
c.*451T>G (n.*451T>G)
c.1877T>G (p.Leu626Trp)
c.2009T>G (p.Leu670Trp)
n.330-3832A>C
6g.33441313T=CA1620013751SYNGAP1,SYNGAP1-AS1c.1796T= (p.Leu599=)
c.2054T= (p.Leu685=)
n.6T=
c.*451T= (n.*451T=)
c.1877T= (p.Leu626=)
c.2009T= (p.Leu670=)
n.330-3832A=
6g.33441314G>ACA450103403SYNGAP1,SYNGAP1-AS1c.1797G>A (p.Leu599=)
c.2055G>A (p.Leu685=)
n.7G>A
c.*452G>A (n.*452G>A)
c.1878G>A (p.Leu626=)
c.2010G>A (p.Leu670=)
n.330-3833C>T
 gnomAD v4
6g.33441314G>CCA363622307SYNGAP1,SYNGAP1-AS1c.1797G>C (p.Leu599Phe)
c.2055G>C (p.Leu685Phe)
n.7G>C
c.*452G>C (n.*452G>C)
c.1878G>C (p.Leu626Phe)
c.2010G>C (p.Leu670Phe)
n.330-3833C>G
6g.33441314G>TCA363622309SYNGAP1,SYNGAP1-AS1c.1797G>T (p.Leu599Phe)
c.2055G>T (p.Leu685Phe)
n.7G>T
c.*452G>T (n.*452G>T)
c.1878G>T (p.Leu626Phe)
c.2010G>T (p.Leu670Phe)
n.330-3833C>A
6g.33441315G>ACA363622313SYNGAP1,SYNGAP1-AS1c.1798G>A (p.Gly600Ser)
c.2056G>A (p.Gly686Ser)
n.8G>A
c.*453G>A (n.*453G>A)
c.1879G>A (p.Gly627Ser)
c.2011G>A (p.Gly671Ser)
n.330-3834C>T
6g.33441315G>CCA363622315SYNGAP1,SYNGAP1-AS1c.1798G>C (p.Gly600Arg)
c.2056G>C (p.Gly686Arg)
n.8G>C
c.*453G>C (n.*453G>C)
c.1879G>C (p.Gly627Arg)
c.2011G>C (p.Gly671Arg)
n.330-3834C>G
6g.33441315G>TCA363622319SYNGAP1,SYNGAP1-AS1c.1798G>T (p.Gly600Cys)
c.2056G>T (p.Gly686Cys)
n.8G>T
c.*453G>T (n.*453G>T)
c.1879G>T (p.Gly627Cys)
c.2011G>T (p.Gly671Cys)
n.330-3834C>A
6g.33441316G>ACA363622324SYNGAP1,SYNGAP1-AS1c.1799G>A (p.Gly600Asp)
c.2057G>A (p.Gly686Asp)
n.9G>A
c.*454G>A (n.*454G>A)
c.1880G>A (p.Gly627Asp)
c.2012G>A (p.Gly671Asp)
n.330-3835C>T
6g.33441316G>CCA363622327SYNGAP1,SYNGAP1-AS1c.1799G>C (p.Gly600Ala)
c.2057G>C (p.Gly686Ala)
n.9G>C
c.*454G>C (n.*454G>C)
c.1880G>C (p.Gly627Ala)
c.2012G>C (p.Gly671Ala)
n.330-3835C>G
6g.33441316G>TCA363622325SYNGAP1,SYNGAP1-AS1c.1799G>T (p.Gly600Val)
c.2057G>T (p.Gly686Val)
n.9G>T
c.*454G>T (n.*454G>T)
c.1880G>T (p.Gly627Val)
c.2012G>T (p.Gly671Val)
n.330-3835C>A
6g.33441317C>ACA450103404SYNGAP1,SYNGAP1-AS1c.1800C>A (p.Gly600=)
c.2058C>A (p.Gly686=)
n.10C>A
c.*455C>A (n.*455C>A)
c.1881C>A (p.Gly627=)
c.2013C>A (p.Gly671=)
n.330-3836G>T
6g.33441317C>GCA450103405SYNGAP1,SYNGAP1-AS1c.1800C>G (p.Gly600=)
c.2058C>G (p.Gly686=)
n.10C>G
c.*455C>G (n.*455C>G)
c.1881C>G (p.Gly627=)
c.2013C>G (p.Gly671=)
n.330-3836G>C
6g.33441317C>TCA450103406SYNGAP1,SYNGAP1-AS1c.1800C>T (p.Gly600=)
c.2058C>T (p.Gly686=)
n.10C>T
c.*455C>T (n.*455C>T)
c.1881C>T (p.Gly627=)
c.2013C>T (p.Gly671=)
n.330-3836G>A
6g.33441318C>ACA450103407SYNGAP1,SYNGAP1-AS1c.1801C>A (p.Arg601=)
c.2059C>A (p.Arg687=)
n.11C>A
c.*456C>A (n.*456C>A)
c.1882C>A (p.Arg628=)
c.2014C>A (p.Arg672=)
n.330-3837G>T
6g.33441318C=CA1620013752SYNGAP1,SYNGAP1-AS1c.1801C= (p.Arg601=)
c.2059C= (p.Arg687=)
n.11C=
c.*456C= (n.*456C=)
c.1882C= (p.Arg628=)
c.2014C= (p.Arg672=)
n.330-3837G=
6g.33441318C>GCA363622329SYNGAP1,SYNGAP1-AS1c.1801C>G (p.Arg601Gly)
c.2059C>G (p.Arg687Gly)
n.11C>G
c.*456C>G (n.*456C>G)
c.1882C>G (p.Arg628Gly)
c.2014C>G (p.Arg672Gly)
n.330-3837G>C
6g.33441318C>TCA16612116SYNGAP1,SYNGAP1-AS1c.1801C>T (p.Arg601Ter)
c.2059C>T (p.Arg687Ter)
n.11C>T
c.*456C>T (n.*456C>T)
c.1882C>T (p.Arg628Ter)
c.2014C>T (p.Arg672Ter)
n.330-3837G>A
 ClinVar dbSNP

Number of alleles fetched