Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.33440863C>ACA363693574SYNGAP1,SYNGAP1-AS1c.1553C>A (p.Ser518Ter)
c.1811C>A (p.Ser604Ter)
c.*208C>A (n.*208C>A)
c.1634C>A (p.Ser545Ter)
c.1766C>A (p.Ser589Ter)
n.330-3382G>T
 dbSNP
6g.33440863C=CA1620013551SYNGAP1,SYNGAP1-AS1c.1553C= (p.Ser518=)
c.1811C= (p.Ser604=)
c.*208C= (n.*208C=)
c.1634C= (p.Ser545=)
c.1766C= (p.Ser589=)
n.330-3382G=
6g.33440863C>GCA363693575SYNGAP1,SYNGAP1-AS1c.1553C>G (p.Ser518Trp)
c.1811C>G (p.Ser604Trp)
c.*208C>G (n.*208C>G)
c.1634C>G (p.Ser545Trp)
c.1766C>G (p.Ser589Trp)
n.330-3382G>C
6g.33440863C>TCA363693573SYNGAP1,SYNGAP1-AS1c.1553C>T (p.Ser518Leu)
c.1811C>T (p.Ser604Leu)
c.*208C>T (n.*208C>T)
c.1634C>T (p.Ser545Leu)
c.1766C>T (p.Ser589Leu)
n.330-3382G>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
6g.33440864G>ACA3758715SYNGAP1,SYNGAP1-AS1c.1554G>A (p.Ser518=)
c.1812G>A (p.Ser604=)
c.*209G>A (n.*209G>A)
c.1635G>A (p.Ser545=)
c.1767G>A (p.Ser589=)
n.330-3383C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.33440864G>CCA450108246SYNGAP1,SYNGAP1-AS1c.1554G>C (p.Ser518=)
c.1812G>C (p.Ser604=)
c.*209G>C (n.*209G>C)
c.1635G>C (p.Ser545=)
c.1767G>C (p.Ser589=)
n.330-3383C>G
6g.33440864G=CA1620013552SYNGAP1,SYNGAP1-AS1c.1554G= (p.Ser518=)
c.1812G= (p.Ser604=)
c.*209G= (n.*209G=)
c.1635G= (p.Ser545=)
c.1767G= (p.Ser589=)
n.330-3383C=
6g.33440864G>TCA450108247SYNGAP1,SYNGAP1-AS1c.1554G>T (p.Ser518=)
c.1812G>T (p.Ser604=)
c.*209G>T (n.*209G>T)
c.1635G>T (p.Ser545=)
c.1767G>T (p.Ser589=)
n.330-3383C>A
 COSMIC COSMIC
6g.33440865C>ACA363693582SYNGAP1,SYNGAP1-AS1c.1555C>A (p.Pro519Thr)
c.1813C>A (p.Pro605Thr)
c.*210C>A (n.*210C>A)
c.1636C>A (p.Pro546Thr)
c.1768C>A (p.Pro590Thr)
n.330-3384G>T
6g.33440865C>GCA363693585SYNGAP1,SYNGAP1-AS1c.1555C>G (p.Pro519Ala)
c.1813C>G (p.Pro605Ala)
c.*210C>G (n.*210C>G)
c.1636C>G (p.Pro546Ala)
c.1768C>G (p.Pro590Ala)
n.330-3384G>C
6g.33440865C>TCA363693588SYNGAP1,SYNGAP1-AS1c.1555C>T (p.Pro519Ser)
c.1813C>T (p.Pro605Ser)
c.*210C>T (n.*210C>T)
c.1636C>T (p.Pro546Ser)
c.1768C>T (p.Pro590Ser)
n.330-3384G>A
 ClinVar
6g.33440866C>ACA363693591SYNGAP1,SYNGAP1-AS1c.1556C>A (p.Pro519His)
c.1814C>A (p.Pro605His)
c.*211C>A (n.*211C>A)
c.1637C>A (p.Pro546His)
c.1769C>A (p.Pro590His)
n.330-3385G>T
6g.33440866C=CA1620013553SYNGAP1,SYNGAP1-AS1c.1556C= (p.Pro519=)
c.1814C= (p.Pro605=)
c.*211C= (n.*211C=)
c.1637C= (p.Pro546=)
c.1769C= (p.Pro590=)
n.330-3385G=
6g.33440866C>GCA363693594SYNGAP1,SYNGAP1-AS1c.1556C>G (p.Pro519Arg)
c.1814C>G (p.Pro605Arg)
c.*211C>G (n.*211C>G)
c.1637C>G (p.Pro546Arg)
c.1769C>G (p.Pro590Arg)
n.330-3385G>C
 ClinVar dbSNP
6g.33440866C>TCA363693595SYNGAP1,SYNGAP1-AS1c.1556C>T (p.Pro519Leu)
c.1814C>T (p.Pro605Leu)
c.*211C>T (n.*211C>T)
c.1637C>T (p.Pro546Leu)
c.1769C>T (p.Pro590Leu)
n.330-3385G>A
6g.33440867C>ACA450108249SYNGAP1,SYNGAP1-AS1c.1557C>A (p.Pro519=)
c.1815C>A (p.Pro605=)
c.*212C>A (n.*212C>A)
c.1638C>A (p.Pro546=)
c.1770C>A (p.Pro590=)
n.330-3386G>T
6g.33440867C>GCA450108250SYNGAP1,SYNGAP1-AS1c.1557C>G (p.Pro519=)
c.1815C>G (p.Pro605=)
c.*212C>G (n.*212C>G)
c.1638C>G (p.Pro546=)
c.1770C>G (p.Pro590=)
n.330-3386G>C
6g.33440867C>TCA450108251SYNGAP1,SYNGAP1-AS1c.1557C>T (p.Pro519=)
c.1815C>T (p.Pro605=)
c.*212C>T (n.*212C>T)
c.1638C>T (p.Pro546=)
c.1770C>T (p.Pro590=)
n.330-3386G>A
6g.33440868A>CCA363693600SYNGAP1,SYNGAP1-AS1c.1558A>C (p.Ser520Arg)
c.1816A>C (p.Ser606Arg)
c.*213A>C (n.*213A>C)
c.1639A>C (p.Ser547Arg)
c.1771A>C (p.Ser591Arg)
n.330-3387T>G
6g.33440868A>GCA363693602SYNGAP1,SYNGAP1-AS1c.1558A>G (p.Ser520Gly)
c.1816A>G (p.Ser606Gly)
c.*213A>G (n.*213A>G)
c.1639A>G (p.Ser547Gly)
c.1771A>G (p.Ser591Gly)
n.330-3387T>C
6g.33440868A>TCA363693604SYNGAP1,SYNGAP1-AS1c.1558A>T (p.Ser520Cys)
c.1816A>T (p.Ser606Cys)
c.*213A>T (n.*213A>T)
c.1639A>T (p.Ser547Cys)
c.1771A>T (p.Ser591Cys)
n.330-3387T>A
6g.33440869G>ACA363693608SYNGAP1,SYNGAP1-AS1c.1559G>A (p.Ser520Asn)
c.1817G>A (p.Ser606Asn)
c.*214G>A (n.*214G>A)
c.1640G>A (p.Ser547Asn)
c.1772G>A (p.Ser591Asn)
n.330-3388C>T
6g.33440869G>CCA363693610SYNGAP1,SYNGAP1-AS1c.1559G>C (p.Ser520Thr)
c.1817G>C (p.Ser606Thr)
c.*214G>C (n.*214G>C)
c.1640G>C (p.Ser547Thr)
c.1772G>C (p.Ser591Thr)
n.330-3388C>G
6g.33440869G>TCA363693615SYNGAP1,SYNGAP1-AS1c.1559G>T (p.Ser520Ile)
c.1817G>T (p.Ser606Ile)
c.*214G>T (n.*214G>T)
c.1640G>T (p.Ser547Ile)
c.1772G>T (p.Ser591Ile)
n.330-3388C>A
6g.33440870T>ACA363693618SYNGAP1,SYNGAP1-AS1c.1560T>A (p.Ser520Arg)
c.1818T>A (p.Ser606Arg)
c.*215T>A (n.*215T>A)
c.1641T>A (p.Ser547Arg)
c.1773T>A (p.Ser591Arg)
n.330-3389A>T
6g.33440870T>CCA450108252SYNGAP1,SYNGAP1-AS1c.1560T>C (p.Ser520=)
c.1818T>C (p.Ser606=)
c.*215T>C (n.*215T>C)
c.1641T>C (p.Ser547=)
c.1773T>C (p.Ser591=)
n.330-3389A>G
6g.33440870T>GCA363693620SYNGAP1,SYNGAP1-AS1c.1560T>G (p.Ser520Arg)
c.1818T>G (p.Ser606Arg)
c.*215T>G (n.*215T>G)
c.1641T>G (p.Ser547Arg)
c.1773T>G (p.Ser591Arg)
n.330-3389A>C
6g.33440871C>ACA363693623SYNGAP1,SYNGAP1-AS1c.1561C>A (p.Leu521Ile)
c.1819C>A (p.Leu607Ile)
c.*216C>A (n.*216C>A)
c.1642C>A (p.Leu548Ile)
c.1774C>A (p.Leu592Ile)
n.330-3390G>T
6g.33440871C=CA1620013554SYNGAP1,SYNGAP1-AS1c.1561C= (p.Leu521=)
c.1819C= (p.Leu607=)
c.*216C= (n.*216C=)
c.1642C= (p.Leu548=)
c.1774C= (p.Leu592=)
n.330-3390G=
6g.33440871C>GCA3758716SYNGAP1,SYNGAP1-AS1c.1561C>G (p.Leu521Val)
c.1819C>G (p.Leu607Val)
c.*216C>G (n.*216C>G)
c.1642C>G (p.Leu548Val)
c.1774C>G (p.Leu592Val)
n.330-3390G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.33440871C>TCA363693628SYNGAP1,SYNGAP1-AS1c.1561C>T (p.Leu521Phe)
c.1819C>T (p.Leu607Phe)
c.*216C>T (n.*216C>T)
c.1642C>T (p.Leu548Phe)
c.1774C>T (p.Leu592Phe)
n.330-3390G>A
 gnomAD v4 COSMIC COSMIC
6g.33440872T>ACA363693630SYNGAP1,SYNGAP1-AS1c.1562T>A (p.Leu521His)
c.1820T>A (p.Leu607His)
c.*217T>A (n.*217T>A)
c.1643T>A (p.Leu548His)
c.1775T>A (p.Leu592His)
n.330-3391A>T
6g.33440872T>CCA363693632SYNGAP1,SYNGAP1-AS1c.1562T>C (p.Leu521Pro)
c.1820T>C (p.Leu607Pro)
c.*217T>C (n.*217T>C)
c.1643T>C (p.Leu548Pro)
c.1775T>C (p.Leu592Pro)
n.330-3391A>G
6g.33440872T>GCA363693634SYNGAP1,SYNGAP1-AS1c.1562T>G (p.Leu521Arg)
c.1820T>G (p.Leu607Arg)
c.*217T>G (n.*217T>G)
c.1643T>G (p.Leu548Arg)
c.1775T>G (p.Leu592Arg)
n.330-3391A>C
6g.33440873C>ACA450108253SYNGAP1,SYNGAP1-AS1c.1563C>A (p.Leu521=)
c.1821C>A (p.Leu607=)
c.*218C>A (n.*218C>A)
c.1644C>A (p.Leu548=)
c.1776C>A (p.Leu592=)
n.330-3392G>T
6g.33440873C>GCA450108254SYNGAP1,SYNGAP1-AS1c.1563C>G (p.Leu521=)
c.1821C>G (p.Leu607=)
c.*218C>G (n.*218C>G)
c.1644C>G (p.Leu548=)
c.1776C>G (p.Leu592=)
n.330-3392G>C
 gnomAD v4
6g.33440873C>TCA450108255SYNGAP1,SYNGAP1-AS1c.1563C>T (p.Leu521=)
c.1821C>T (p.Leu607=)
c.*218C>T (n.*218C>T)
c.1644C>T (p.Leu548=)
c.1776C>T (p.Leu592=)
n.330-3392G>A
 ClinVar dbSNP
6g.33440873_33440875delinsCTTCA1620013555SYNGAP1,SYNGAP1-AS1c.1563_1565delinsCTT (p.Leu521=)
c.1821_1823delinsCTT (p.Leu607=)
c.*218_*220delinsCTT (n.*218_*220delinsCTT)
c.1644_1646delinsCTT (p.Leu548=)
c.1776_1778delinsCTT (p.Leu592=)
n.330-3394_330-3392delinsAAG
6g.33440874T>ACA363693636SYNGAP1,SYNGAP1-AS1c.1564T>A (p.Phe522Ile)
c.1822T>A (p.Phe608Ile)
c.*219T>A (n.*219T>A)
c.1645T>A (p.Phe549Ile)
c.1777T>A (p.Phe593Ile)
n.330-3393A>T
6g.33440874T>CCA363693638SYNGAP1,SYNGAP1-AS1c.1564T>C (p.Phe522Leu)
c.1822T>C (p.Phe608Leu)
c.*219T>C (n.*219T>C)
c.1645T>C (p.Phe549Leu)
c.1777T>C (p.Phe593Leu)
n.330-3393A>G
6g.33440874T>GCA363693640SYNGAP1,SYNGAP1-AS1c.1564T>G (p.Phe522Val)
c.1822T>G (p.Phe608Val)
c.*219T>G (n.*219T>G)
c.1645T>G (p.Phe549Val)
c.1777T>G (p.Phe593Val)
n.330-3393A>C
6g.33440875_33440876delCA915944217SYNGAP1,SYNGAP1-AS1c.1565_1566del (p.Phe522TrpfsTer9)
c.1823_1824del (p.Phe608TrpfsTer9)
c.*220_*221del (n.*220_*221del)
c.1646_1647del (p.Phe549TrpfsTer9)
c.1778_1779del (p.Phe593TrpfsTer9)
n.330-3394_330-3393del
 ClinVar dbSNP
6g.33440875T>ACA363693642SYNGAP1,SYNGAP1-AS1c.1565T>A (p.Phe522Tyr)
c.1823T>A (p.Phe608Tyr)
c.*220T>A (n.*220T>A)
c.1646T>A (p.Phe549Tyr)
c.1778T>A (p.Phe593Tyr)
n.330-3394A>T
6g.33440875T>CCA363693645SYNGAP1,SYNGAP1-AS1c.1565T>C (p.Phe522Ser)
c.1823T>C (p.Phe608Ser)
c.*220T>C (n.*220T>C)
c.1646T>C (p.Phe549Ser)
c.1778T>C (p.Phe593Ser)
n.330-3394A>G
6g.33440875T>GCA363693647SYNGAP1,SYNGAP1-AS1c.1565T>G (p.Phe522Cys)
c.1823T>G (p.Phe608Cys)
c.*220T>G (n.*220T>G)
c.1646T>G (p.Phe549Cys)
c.1778T>G (p.Phe593Cys)
n.330-3394A>C
6g.33440876T>ACA363693649SYNGAP1,SYNGAP1-AS1c.1566T>A (p.Phe522Leu)
c.1824T>A (p.Phe608Leu)
c.*221T>A (n.*221T>A)
c.1647T>A (p.Phe549Leu)
c.1779T>A (p.Phe593Leu)
n.330-3395A>T
6g.33440876T>CCA450108256SYNGAP1,SYNGAP1-AS1c.1566T>C (p.Phe522=)
c.1824T>C (p.Phe608=)
c.*221T>C (n.*221T>C)
c.1647T>C (p.Phe549=)
c.1779T>C (p.Phe593=)
n.330-3395A>G
6g.33440876T>GCA363693651SYNGAP1,SYNGAP1-AS1c.1566T>G (p.Phe522Leu)
c.1824T>G (p.Phe608Leu)
c.*221T>G (n.*221T>G)
c.1647T>G (p.Phe549Leu)
c.1779T>G (p.Phe593Leu)
n.330-3395A>C
6g.33440877G>ACA363693657SYNGAP1,SYNGAP1-AS1c.1567G>A (p.Gly523Arg)
c.1825G>A (p.Gly609Arg)
c.*222G>A (n.*222G>A)
c.1648G>A (p.Gly550Arg)
c.1780G>A (p.Gly594Arg)
n.330-3396C>T
6g.33440877G>CCA363693662SYNGAP1,SYNGAP1-AS1c.1567G>C (p.Gly523Arg)
c.1825G>C (p.Gly609Arg)
c.*222G>C (n.*222G>C)
c.1648G>C (p.Gly550Arg)
c.1780G>C (p.Gly594Arg)
n.330-3396C>G
6g.33440877G>TCA363693659SYNGAP1,SYNGAP1-AS1c.1567G>T (p.Gly523Trp)
c.1825G>T (p.Gly609Trp)
c.*222G>T (n.*222G>T)
c.1648G>T (p.Gly550Trp)
c.1780G>T (p.Gly594Trp)
n.330-3396C>A
6g.33440878G>ACA363693668SYNGAP1,SYNGAP1-AS1c.1568G>A (p.Gly523Glu)
c.1826G>A (p.Gly609Glu)
c.*223G>A (n.*223G>A)
c.1649G>A (p.Gly550Glu)
c.1781G>A (p.Gly594Glu)
n.330-3397C>T
6g.33440878G>CCA363693669SYNGAP1,SYNGAP1-AS1c.1568G>C (p.Gly523Ala)
c.1826G>C (p.Gly609Ala)
c.*223G>C (n.*223G>C)
c.1649G>C (p.Gly550Ala)
c.1781G>C (p.Gly594Ala)
n.330-3397C>G
6g.33440878G>TCA363693673SYNGAP1,SYNGAP1-AS1c.1568G>T (p.Gly523Val)
c.1826G>T (p.Gly609Val)
c.*223G>T (n.*223G>T)
c.1649G>T (p.Gly550Val)
c.1781G>T (p.Gly594Val)
n.330-3397C>A
6g.33440879G>ACA450108259SYNGAP1,SYNGAP1-AS1c.1569G>A (p.Gly523=)
c.1827G>A (p.Gly609=)
c.*224G>A (n.*224G>A)
c.1650G>A (p.Gly550=)
c.1782G>A (p.Gly594=)
n.330-3398C>T
6g.33440879G>CCA450108258SYNGAP1,SYNGAP1-AS1c.1569G>C (p.Gly523=)
c.1827G>C (p.Gly609=)
c.*224G>C (n.*224G>C)
c.1650G>C (p.Gly550=)
c.1782G>C (p.Gly594=)
n.330-3398C>G
6g.33440879G>TCA450108257SYNGAP1,SYNGAP1-AS1c.1569G>T (p.Gly523=)
c.1827G>T (p.Gly609=)
c.*224G>T (n.*224G>T)
c.1650G>T (p.Gly550=)
c.1782G>T (p.Gly594=)
n.330-3398C>A
6g.33440880C>ACA3758717SYNGAP1,SYNGAP1-AS1c.1570C>A (p.Leu524Ile)
c.1828C>A (p.Leu610Ile)
c.*225C>A (n.*225C>A)
c.1651C>A (p.Leu551Ile)
c.1783C>A (p.Leu595Ile)
n.330-3399G>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.33440880C=CA1620013556SYNGAP1,SYNGAP1-AS1c.1570C= (p.Leu524=)
c.1828C= (p.Leu610=)
c.*225C= (n.*225C=)
c.1651C= (p.Leu551=)
c.1783C= (p.Leu595=)
n.330-3399G=
6g.33440880C>GCA3758718SYNGAP1,SYNGAP1-AS1c.1570C>G (p.Leu524Val)
c.1828C>G (p.Leu610Val)
c.*225C>G (n.*225C>G)
c.1651C>G (p.Leu551Val)
c.1783C>G (p.Leu595Val)
n.330-3399G>C
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.33440880C>TCA363693691SYNGAP1,SYNGAP1-AS1c.1570C>T (p.Leu524Phe)
c.1828C>T (p.Leu610Phe)
c.*225C>T (n.*225C>T)
c.1651C>T (p.Leu551Phe)
c.1783C>T (p.Leu595Phe)
n.330-3399G>A
6g.33440881T>ACA363693703SYNGAP1,SYNGAP1-AS1c.1571T>A (p.Leu524His)
c.1829T>A (p.Leu610His)
c.*226T>A (n.*226T>A)
c.1652T>A (p.Leu551His)
c.1784T>A (p.Leu595His)
n.330-3400A>T
6g.33440881T>CCA363693710SYNGAP1,SYNGAP1-AS1c.1571T>C (p.Leu524Pro)
c.1829T>C (p.Leu610Pro)
c.*226T>C (n.*226T>C)
c.1652T>C (p.Leu551Pro)
c.1784T>C (p.Leu595Pro)
n.330-3400A>G
6g.33440881T>GCA363693713SYNGAP1,SYNGAP1-AS1c.1571T>G (p.Leu524Arg)
c.1829T>G (p.Leu610Arg)
c.*226T>G (n.*226T>G)
c.1652T>G (p.Leu551Arg)
c.1784T>G (p.Leu595Arg)
n.330-3400A>C
6g.33440881_33440882dupCA2695202902SYNGAP1,SYNGAP1-AS1c.1571_1572dup (p.Met525LeufsTer?)
c.1829_1830dup (p.Met611LeufsTer?)
c.*226_*227dup (n.*226_*227dup)
c.1652_1653dup (p.Met552LeufsTer?)
c.1784_1785dup (p.Met596LeufsTer?)
n.330-3401_330-3400dup
6g.33440882T>ACA450108260SYNGAP1,SYNGAP1-AS1c.1572T>A (p.Leu524=)
c.1830T>A (p.Leu610=)
c.*227T>A (n.*227T>A)
c.1653T>A (p.Leu551=)
c.1785T>A (p.Leu595=)
n.330-3401A>T
6g.33440882T>CCA450108261SYNGAP1,SYNGAP1-AS1c.1572T>C (p.Leu524=)
c.1830T>C (p.Leu610=)
c.*227T>C (n.*227T>C)
c.1653T>C (p.Leu551=)
c.1785T>C (p.Leu595=)
n.330-3401A>G
6g.33440882T>GCA450108262SYNGAP1,SYNGAP1-AS1c.1572T>G (p.Leu524=)
c.1830T>G (p.Leu610=)
c.*227T>G (n.*227T>G)
c.1653T>G (p.Leu551=)
c.1785T>G (p.Leu595=)
n.330-3401A>C
6g.33440883A>CCA363693721SYNGAP1,SYNGAP1-AS1c.1573A>C (p.Met525Leu)
c.1831A>C (p.Met611Leu)
c.*228A>C (n.*228A>C)
c.1654A>C (p.Met552Leu)
c.1786A>C (p.Met596Leu)
n.330-3402T>G
6g.33440883A>GCA363693723SYNGAP1,SYNGAP1-AS1c.1573A>G (p.Met525Val)
c.1831A>G (p.Met611Val)
c.*228A>G (n.*228A>G)
c.1654A>G (p.Met552Val)
c.1786A>G (p.Met596Val)
n.330-3402T>C
6g.33440883A>TCA363693725SYNGAP1,SYNGAP1-AS1c.1573A>T (p.Met525Leu)
c.1831A>T (p.Met611Leu)
c.*228A>T (n.*228A>T)
c.1654A>T (p.Met552Leu)
c.1786A>T (p.Met596Leu)
n.330-3402T>A
6g.33440884T>ACA363693731SYNGAP1,SYNGAP1-AS1c.1574T>A (p.Met525Lys)
c.1832T>A (p.Met611Lys)
c.*229T>A (n.*229T>A)
c.1655T>A (p.Met552Lys)
c.1787T>A (p.Met596Lys)
n.330-3403A>T
6g.33440884T>CCA363693726SYNGAP1,SYNGAP1-AS1c.1574T>C (p.Met525Thr)
c.1832T>C (p.Met611Thr)
c.*229T>C (n.*229T>C)
c.1655T>C (p.Met552Thr)
c.1787T>C (p.Met596Thr)
n.330-3403A>G
 dbSNP gnomAD v4
6g.33440884T>GCA363693727SYNGAP1,SYNGAP1-AS1c.1574T>G (p.Met525Arg)
c.1832T>G (p.Met611Arg)
c.*229T>G (n.*229T>G)
c.1655T>G (p.Met552Arg)
c.1787T>G (p.Met596Arg)
n.330-3403A>C
6g.33440884T=CA1620013557SYNGAP1,SYNGAP1-AS1c.1574T= (p.Met525=)
c.1832T= (p.Met611=)
c.*229T= (n.*229T=)
c.1655T= (p.Met552=)
c.1787T= (p.Met596=)
n.330-3403A=
6g.33440885G>ACA363693734SYNGAP1,SYNGAP1-AS1c.1575G>A (p.Met525Ile)
c.1833G>A (p.Met611Ile)
c.*230G>A (n.*230G>A)
c.1656G>A (p.Met552Ile)
c.1788G>A (p.Met596Ile)
n.330-3404C>T
 gnomAD v4
6g.33440885G>CCA363693741SYNGAP1,SYNGAP1-AS1c.1575G>C (p.Met525Ile)
c.1833G>C (p.Met611Ile)
c.*230G>C (n.*230G>C)
c.1656G>C (p.Met552Ile)
c.1788G>C (p.Met596Ile)
n.330-3404C>G
6g.33440885G>TCA363693748SYNGAP1,SYNGAP1-AS1c.1575G>T (p.Met525Ile)
c.1833G>T (p.Met611Ile)
c.*230G>T (n.*230G>T)
c.1656G>T (p.Met552Ile)
c.1788G>T (p.Met596Ile)
n.330-3404C>A
6g.33440886C>ACA363693751SYNGAP1,SYNGAP1-AS1c.1576C>A (p.Gln526Lys)
c.1834C>A (p.Gln612Lys)
c.*231C>A (n.*231C>A)
c.1657C>A (p.Gln553Lys)
c.1789C>A (p.Gln597Lys)
n.330-3405G>T
6g.33440886C=CA1620013558SYNGAP1,SYNGAP1-AS1c.1576C= (p.Gln526=)
c.1834C= (p.Gln612=)
c.*231C= (n.*231C=)
c.1657C= (p.Gln553=)
c.1789C= (p.Gln597=)
n.330-3405G=
6g.33440886C>GCA363693753SYNGAP1,SYNGAP1-AS1c.1576C>G (p.Gln526Glu)
c.1834C>G (p.Gln612Glu)
c.*231C>G (n.*231C>G)
c.1657C>G (p.Gln553Glu)
c.1789C>G (p.Gln597Glu)
n.330-3405G>C
6g.33440886C>TCA363693754SYNGAP1,SYNGAP1-AS1c.1576C>T (p.Gln526Ter)
c.1834C>T (p.Gln612Ter)
c.*231C>T (n.*231C>T)
c.1657C>T (p.Gln553Ter)
c.1789C>T (p.Gln597Ter)
n.330-3405G>A
 dbSNP
6g.33440887A>CCA363693759SYNGAP1,SYNGAP1-AS1c.1577A>C (p.Gln526Pro)
c.1835A>C (p.Gln612Pro)
c.*232A>C (n.*232A>C)
c.1658A>C (p.Gln553Pro)
c.1790A>C (p.Gln597Pro)
n.330-3406T>G
6g.33440887A>GCA363693760SYNGAP1,SYNGAP1-AS1c.1577A>G (p.Gln526Arg)
c.1835A>G (p.Gln612Arg)
c.*232A>G (n.*232A>G)
c.1658A>G (p.Gln553Arg)
c.1790A>G (p.Gln597Arg)
n.330-3406T>C
6g.33440887A>TCA363693764SYNGAP1,SYNGAP1-AS1c.1577A>T (p.Gln526Leu)
c.1835A>T (p.Gln612Leu)
c.*232A>T (n.*232A>T)
c.1658A>T (p.Gln553Leu)
c.1790A>T (p.Gln597Leu)
n.330-3406T>A
6g.33440888G>ACA450108263SYNGAP1,SYNGAP1-AS1c.1578G>A (p.Gln526=)
c.1836G>A (p.Gln612=)
c.*233G>A (n.*233G>A)
c.1659G>A (p.Gln553=)
c.1791G>A (p.Gln597=)
n.330-3407C>T
6g.33440888G>CCA363693766SYNGAP1,SYNGAP1-AS1c.1578G>C (p.Gln526His)
c.1836G>C (p.Gln612His)
c.*233G>C (n.*233G>C)
c.1659G>C (p.Gln553His)
c.1791G>C (p.Gln597His)
n.330-3407C>G
6g.33440888G>TCA363693768SYNGAP1,SYNGAP1-AS1c.1578G>T (p.Gln526His)
c.1836G>T (p.Gln612His)
c.*233G>T (n.*233G>T)
c.1659G>T (p.Gln553His)
c.1791G>T (p.Gln597His)
n.330-3407C>A
6g.33440889G>ACA363693776SYNGAP1,SYNGAP1-AS1c.1579G>A (p.Glu527Lys)
c.1837G>A (p.Glu613Lys)
c.*234G>A (n.*234G>A)
c.1660G>A (p.Glu554Lys)
c.1792G>A (p.Glu598Lys)
n.330-3408C>T
6g.33440889G>CCA363693773SYNGAP1,SYNGAP1-AS1c.1579G>C (p.Glu527Gln)
c.1837G>C (p.Glu613Gln)
c.*234G>C (n.*234G>C)
c.1660G>C (p.Glu554Gln)
c.1792G>C (p.Glu598Gln)
n.330-3408C>G
6g.33440889G=CA1620013559SYNGAP1,SYNGAP1-AS1c.1579G= (p.Glu527=)
c.1837G= (p.Glu613=)
c.*234G= (n.*234G=)
c.1660G= (p.Glu554=)
c.1792G= (p.Glu598=)
n.330-3408C=
6g.33440889G>TCA363693770SYNGAP1,SYNGAP1-AS1c.1579G>T (p.Glu527Ter)
c.1837G>T (p.Glu613Ter)
c.*234G>T (n.*234G>T)
c.1660G>T (p.Glu554Ter)
c.1792G>T (p.Glu598Ter)
n.330-3408C>A
 dbSNP
6g.33440890A>CCA363693779SYNGAP1,SYNGAP1-AS1c.1580A>C (p.Glu527Ala)
c.1838A>C (p.Glu613Ala)
c.*235A>C (n.*235A>C)
c.1661A>C (p.Glu554Ala)
c.1793A>C (p.Glu598Ala)
n.330-3409T>G
6g.33440890A>GCA363693777SYNGAP1,SYNGAP1-AS1c.1580A>G (p.Glu527Gly)
c.1838A>G (p.Glu613Gly)
c.*235A>G (n.*235A>G)
c.1661A>G (p.Glu554Gly)
c.1793A>G (p.Glu598Gly)
n.330-3409T>C
6g.33440890A>TCA363693778SYNGAP1,SYNGAP1-AS1c.1580A>T (p.Glu527Val)
c.1838A>T (p.Glu613Val)
c.*235A>T (n.*235A>T)
c.1661A>T (p.Glu554Val)
c.1793A>T (p.Glu598Val)
n.330-3409T>A
6g.33440891G>ACA450108264SYNGAP1,SYNGAP1-AS1c.1581G>A (p.Glu527=)
c.1839G>A (p.Glu613=)
c.*236G>A (n.*236G>A)
c.1662G>A (p.Glu554=)
c.1794G>A (p.Glu598=)
n.330-3410C>T
 gnomAD v4
6g.33440891G>CCA363693782SYNGAP1,SYNGAP1-AS1c.1581G>C (p.Glu527Asp)
c.1839G>C (p.Glu613Asp)
c.*236G>C (n.*236G>C)
c.1662G>C (p.Glu554Asp)
c.1794G>C (p.Glu598Asp)
n.330-3410C>G
6g.33440891G>TCA363693784SYNGAP1,SYNGAP1-AS1c.1581G>T (p.Glu527Asp)
c.1839G>T (p.Glu613Asp)
c.*236G>T (n.*236G>T)
c.1662G>T (p.Glu554Asp)
c.1794G>T (p.Glu598Asp)
n.330-3410C>A
6g.33440892T>ACA363693788SYNGAP1,SYNGAP1-AS1c.1582T>A (p.Tyr528Asn)
c.1840T>A (p.Tyr614Asn)
c.*237T>A (n.*237T>A)
c.1663T>A (p.Tyr555Asn)
c.1795T>A (p.Tyr599Asn)
n.330-3411A>T
6g.33440892T>CCA363693791SYNGAP1,SYNGAP1-AS1c.1582T>C (p.Tyr528His)
c.1840T>C (p.Tyr614His)
c.*237T>C (n.*237T>C)
c.1663T>C (p.Tyr555His)
c.1795T>C (p.Tyr599His)
n.330-3411A>G
6g.33440892T>GCA363693794SYNGAP1,SYNGAP1-AS1c.1582T>G (p.Tyr528Asp)
c.1840T>G (p.Tyr614Asp)
c.*237T>G (n.*237T>G)
c.1663T>G (p.Tyr555Asp)
c.1795T>G (p.Tyr599Asp)
n.330-3411A>C
6g.33440893A>CCA363693800SYNGAP1,SYNGAP1-AS1c.1583A>C (p.Tyr528Ser)
c.1841A>C (p.Tyr614Ser)
c.*238A>C (n.*238A>C)
c.1664A>C (p.Tyr555Ser)
c.1796A>C (p.Tyr599Ser)
n.330-3412T>G
 gnomAD v4
6g.33440893A>GCA363693803SYNGAP1,SYNGAP1-AS1c.1583A>G (p.Tyr528Cys)
c.1841A>G (p.Tyr614Cys)
c.*238A>G (n.*238A>G)
c.1664A>G (p.Tyr555Cys)
c.1796A>G (p.Tyr599Cys)
n.330-3412T>C
6g.33440893A>TCA363693808SYNGAP1,SYNGAP1-AS1c.1583A>T (p.Tyr528Phe)
c.1841A>T (p.Tyr614Phe)
c.*238A>T (n.*238A>T)
c.1664A>T (p.Tyr555Phe)
c.1796A>T (p.Tyr599Phe)
n.330-3412T>A
6g.33440894C>ACA363693812SYNGAP1,SYNGAP1-AS1c.1584C>A (p.Tyr528Ter)
c.1842C>A (p.Tyr614Ter)
c.*239C>A (n.*239C>A)
c.1665C>A (p.Tyr555Ter)
c.1797C>A (p.Tyr599Ter)
n.330-3413G>T
6g.33440894C=CA1620013560SYNGAP1,SYNGAP1-AS1c.1584C= (p.Tyr528=)
c.1842C= (p.Tyr614=)
c.*239C= (n.*239C=)
c.1665C= (p.Tyr555=)
c.1797C= (p.Tyr599=)
n.330-3413G=
6g.33440894C>GCA363693814SYNGAP1,SYNGAP1-AS1c.1584C>G (p.Tyr528Ter)
c.1842C>G (p.Tyr614Ter)
c.*239C>G (n.*239C>G)
c.1665C>G (p.Tyr555Ter)
c.1797C>G (p.Tyr599Ter)
n.330-3413G>C
6g.33440894C>TCA450108265SYNGAP1,SYNGAP1-AS1c.1584C>T (p.Tyr528=)
c.1842C>T (p.Tyr614=)
c.*239C>T (n.*239C>T)
c.1665C>T (p.Tyr555=)
c.1797C>T (p.Tyr599=)
n.330-3413G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.33440895C>ACA363693821SYNGAP1,SYNGAP1-AS1c.1585C>A (p.Pro529Thr)
c.1843C>A (p.Pro615Thr)
c.*240C>A (n.*240C>A)
c.1666C>A (p.Pro556Thr)
c.1798C>A (p.Pro600Thr)
n.330-3414G>T
6g.33440895C>GCA363693829SYNGAP1,SYNGAP1-AS1c.1585C>G (p.Pro529Ala)
c.1843C>G (p.Pro615Ala)
c.*240C>G (n.*240C>G)
c.1666C>G (p.Pro556Ala)
c.1798C>G (p.Pro600Ala)
n.330-3414G>C
6g.33440895C>TCA363693817SYNGAP1,SYNGAP1-AS1c.1585C>T (p.Pro529Ser)
c.1843C>T (p.Pro615Ser)
c.*240C>T (n.*240C>T)
c.1666C>T (p.Pro556Ser)
c.1798C>T (p.Pro600Ser)
n.330-3414G>A
6g.33440896C>ACA363693836SYNGAP1,SYNGAP1-AS1c.1586C>A (p.Pro529Gln)
c.1844C>A (p.Pro615Gln)
c.*241C>A (n.*241C>A)
c.1667C>A (p.Pro556Gln)
c.1799C>A (p.Pro600Gln)
n.330-3415G>T
6g.33440896C>GCA363693837SYNGAP1,SYNGAP1-AS1c.1586C>G (p.Pro529Arg)
c.1844C>G (p.Pro615Arg)
c.*241C>G (n.*241C>G)
c.1667C>G (p.Pro556Arg)
c.1799C>G (p.Pro600Arg)
n.330-3415G>C
6g.33440896C>TCA363693840SYNGAP1,SYNGAP1-AS1c.1586C>T (p.Pro529Leu)
c.1844C>T (p.Pro615Leu)
c.*241C>T (n.*241C>T)
c.1667C>T (p.Pro556Leu)
c.1799C>T (p.Pro600Leu)
n.330-3415G>A
6g.33440897A>CCA450108266SYNGAP1,SYNGAP1-AS1c.1587A>C (p.Pro529=)
c.1845A>C (p.Pro615=)
c.*242A>C (n.*242A>C)
c.1668A>C (p.Pro556=)
c.1800A>C (p.Pro600=)
n.330-3416T>G
6g.33440897A>GCA450108267SYNGAP1,SYNGAP1-AS1c.1587A>G (p.Pro529=)
c.1845A>G (p.Pro615=)
c.*242A>G (n.*242A>G)
c.1668A>G (p.Pro556=)
c.1800A>G (p.Pro600=)
n.330-3416T>C
6g.33440897A>TCA450108268SYNGAP1,SYNGAP1-AS1c.1587A>T (p.Pro529=)
c.1845A>T (p.Pro615=)
c.*242A>T (n.*242A>T)
c.1668A>T (p.Pro556=)
c.1800A>T (p.Pro600=)
n.330-3416T>A
6g.33440898G>ACA363693844SYNGAP1,SYNGAP1-AS1c.1588G>A (p.Asp530Asn)
c.1846G>A (p.Asp616Asn)
c.*243G>A (n.*243G>A)
c.1669G>A (p.Asp557Asn)
c.1801G>A (p.Asp601Asn)
n.330-3417C>T
6g.33440898G>CCA363693847SYNGAP1,SYNGAP1-AS1c.1588G>C (p.Asp530His)
c.1846G>C (p.Asp616His)
c.*243G>C (n.*243G>C)
c.1669G>C (p.Asp557His)
c.1801G>C (p.Asp601His)
n.330-3417C>G
6g.33440898G>TCA363693851SYNGAP1,SYNGAP1-AS1c.1588G>T (p.Asp530Tyr)
c.1846G>T (p.Asp616Tyr)
c.*243G>T (n.*243G>T)
c.1669G>T (p.Asp557Tyr)
c.1801G>T (p.Asp601Tyr)
n.330-3417C>A
6g.33440899A>CCA363693854SYNGAP1,SYNGAP1-AS1c.1589A>C (p.Asp530Ala)
c.1847A>C (p.Asp616Ala)
c.*244A>C (n.*244A>C)
c.1670A>C (p.Asp557Ala)
c.1802A>C (p.Asp601Ala)
n.330-3418T>G
6g.33440899A>GCA363693868SYNGAP1,SYNGAP1-AS1c.1589A>G (p.Asp530Gly)
c.1847A>G (p.Asp616Gly)
c.*244A>G (n.*244A>G)
c.1670A>G (p.Asp557Gly)
c.1802A>G (p.Asp601Gly)
n.330-3418T>C
6g.33440899A>TCA363693857SYNGAP1,SYNGAP1-AS1c.1589A>T (p.Asp530Val)
c.1847A>T (p.Asp616Val)
c.*244A>T (n.*244A>T)
c.1670A>T (p.Asp557Val)
c.1802A>T (p.Asp601Val)
n.330-3418T>A
6g.33440900T>ACA363693871SYNGAP1,SYNGAP1-AS1c.1590T>A (p.Asp530Glu)
c.1848T>A (p.Asp616Glu)
c.*245T>A (n.*245T>A)
c.1671T>A (p.Asp557Glu)
c.1803T>A (p.Asp601Glu)
n.330-3419A>T
 gnomAD v4
6g.33440900T>CCA450108269SYNGAP1,SYNGAP1-AS1c.1590T>C (p.Asp530=)
c.1848T>C (p.Asp616=)
c.*245T>C (n.*245T>C)
c.1671T>C (p.Asp557=)
c.1803T>C (p.Asp601=)
n.330-3419A>G
6g.33440900T>GCA363693874SYNGAP1,SYNGAP1-AS1c.1590T>G (p.Asp530Glu)
c.1848T>G (p.Asp616Glu)
c.*245T>G (n.*245T>G)
c.1671T>G (p.Asp557Glu)
c.1803T>G (p.Asp601Glu)
n.330-3419A>C
 gnomAD v4
6g.33440901G>ACA363693878SYNGAP1,SYNGAP1-AS1c.1591G>A (p.Glu531Lys)
c.1849G>A (p.Glu617Lys)
c.*246G>A (n.*246G>A)
c.1672G>A (p.Glu558Lys)
c.1804G>A (p.Glu602Lys)
n.330-3420C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.33440901G>CCA363693888SYNGAP1,SYNGAP1-AS1c.1591G>C (p.Glu531Gln)
c.1849G>C (p.Glu617Gln)
c.*246G>C (n.*246G>C)
c.1672G>C (p.Glu558Gln)
c.1804G>C (p.Glu602Gln)
n.330-3420C>G
6g.33440901G=CA1620013561SYNGAP1,SYNGAP1-AS1c.1591G= (p.Glu531=)
c.1849G= (p.Glu617=)
c.*246G= (n.*246G=)
c.1672G= (p.Glu558=)
c.1804G= (p.Glu602=)
n.330-3420C=
6g.33440901G>TCA363693891SYNGAP1,SYNGAP1-AS1c.1591G>T (p.Glu531Ter)
c.1849G>T (p.Glu617Ter)
c.*246G>T (n.*246G>T)
c.1672G>T (p.Glu558Ter)
c.1804G>T (p.Glu602Ter)
n.330-3420C>A
 dbSNP
6g.33440902A>CCA363693898SYNGAP1,SYNGAP1-AS1c.1592A>C (p.Glu531Ala)
c.1850A>C (p.Glu617Ala)
c.*247A>C (n.*247A>C)
c.1673A>C (p.Glu558Ala)
c.1805A>C (p.Glu602Ala)
n.330-3421T>G
6g.33440902A>GCA363693901SYNGAP1,SYNGAP1-AS1c.1592A>G (p.Glu531Gly)
c.1850A>G (p.Glu617Gly)
c.*247A>G (n.*247A>G)
c.1673A>G (p.Glu558Gly)
c.1805A>G (p.Glu602Gly)
n.330-3421T>C
6g.33440902A>TCA363693896SYNGAP1,SYNGAP1-AS1c.1592A>T (p.Glu531Val)
c.1850A>T (p.Glu617Val)
c.*247A>T (n.*247A>T)
c.1673A>T (p.Glu558Val)
c.1805A>T (p.Glu602Val)
n.330-3421T>A
6g.33440903G>ACA155633SYNGAP1,SYNGAP1-AS1c.1593G>A (p.Glu531=)
c.1851G>A (p.Glu617=)
c.*248G>A (n.*248G>A)
c.1674G>A (p.Glu558=)
c.1806G>A (p.Glu602=)
n.330-3422C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.33440903G>CCA363693909SYNGAP1,SYNGAP1-AS1c.1593G>C (p.Glu531Asp)
c.1851G>C (p.Glu617Asp)
c.*248G>C (n.*248G>C)
c.1674G>C (p.Glu558Asp)
c.1806G>C (p.Glu602Asp)
n.330-3422C>G
6g.33440903G=CA1620013562SYNGAP1,SYNGAP1-AS1c.1593G= (p.Glu531=)
c.1851G= (p.Glu617=)
c.*248G= (n.*248G=)
c.1674G= (p.Glu558=)
c.1806G= (p.Glu602=)
n.330-3422C=
6g.33440903G>TCA363693906SYNGAP1,SYNGAP1-AS1c.1593G>T (p.Glu531Asp)
c.1851G>T (p.Glu617Asp)
c.*248G>T (n.*248G>T)
c.1674G>T (p.Glu558Asp)
c.1806G>T (p.Glu602Asp)
n.330-3422C>A
 ClinVar
6g.33440904C>ACA3758719SYNGAP1,SYNGAP1-AS1c.1594C>A (p.Gln532Lys)
c.1852C>A (p.Gln618Lys)
c.*249C>A (n.*249C>A)
c.1675C>A (p.Gln559Lys)
c.1807C>A (p.Gln603Lys)
n.330-3423G>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.33440904C=CA1620013563SYNGAP1,SYNGAP1-AS1c.1594C= (p.Gln532=)
c.1852C= (p.Gln618=)
c.*249C= (n.*249C=)
c.1675C= (p.Gln559=)
c.1807C= (p.Gln603=)
n.330-3423G=
6g.33440904C>GCA363693918SYNGAP1,SYNGAP1-AS1c.1594C>G (p.Gln532Glu)
c.1852C>G (p.Gln618Glu)
c.*249C>G (n.*249C>G)
c.1675C>G (p.Gln559Glu)
c.1807C>G (p.Gln603Glu)
n.330-3423G>C
6g.33440904C>TCA363693919SYNGAP1,SYNGAP1-AS1c.1594C>T (p.Gln532Ter)
c.1852C>T (p.Gln618Ter)
c.*249C>T (n.*249C>T)
c.1675C>T (p.Gln559Ter)
c.1807C>T (p.Gln603Ter)
n.330-3423G>A
6g.33440905A>CCA363693920SYNGAP1,SYNGAP1-AS1c.1595A>C (p.Gln532Pro)
c.1853A>C (p.Gln618Pro)
c.*250A>C (n.*250A>C)
c.1676A>C (p.Gln559Pro)
c.1808A>C (p.Gln603Pro)
n.330-3424T>G
6g.33440905A>GCA363693921SYNGAP1,SYNGAP1-AS1c.1595A>G (p.Gln532Arg)
c.1853A>G (p.Gln618Arg)
c.*250A>G (n.*250A>G)
c.1676A>G (p.Gln559Arg)
c.1808A>G (p.Gln603Arg)
n.330-3424T>C
6g.33440905A>TCA363693922SYNGAP1,SYNGAP1-AS1c.1595A>T (p.Gln532Leu)
c.1853A>T (p.Gln618Leu)
c.*250A>T (n.*250A>T)
c.1676A>T (p.Gln559Leu)
c.1808A>T (p.Gln603Leu)
n.330-3424T>A
6g.33440906G>ACA450108270SYNGAP1,SYNGAP1-AS1c.1596G>A (p.Gln532=)
c.1854G>A (p.Gln618=)
c.*251G>A (n.*251G>A)
c.1677G>A (p.Gln559=)
c.1809G>A (p.Gln603=)
n.330-3425C>T
6g.33440906G>CCA363693924SYNGAP1,SYNGAP1-AS1c.1596G>C (p.Gln532His)
c.1854G>C (p.Gln618His)
c.*251G>C (n.*251G>C)
c.1677G>C (p.Gln559His)
c.1809G>C (p.Gln603His)
n.330-3425C>G
6g.33440906G>TCA363693926SYNGAP1,SYNGAP1-AS1c.1596G>T (p.Gln532His)
c.1854G>T (p.Gln618His)
c.*251G>T (n.*251G>T)
c.1677G>T (p.Gln559His)
c.1809G>T (p.Gln603His)
n.330-3425C>A
6g.33440907A>CCA363693928SYNGAP1,SYNGAP1-AS1c.1597A>C (p.Thr533Pro)
c.1855A>C (p.Thr619Pro)
c.*252A>C (n.*252A>C)
c.1678A>C (p.Thr560Pro)
c.1810A>C (p.Thr604Pro)
n.330-3426T>G
6g.33440907A>GCA363693930SYNGAP1,SYNGAP1-AS1c.1597A>G (p.Thr533Ala)
c.1855A>G (p.Thr619Ala)
c.*252A>G (n.*252A>G)
c.1678A>G (p.Thr560Ala)
c.1810A>G (p.Thr604Ala)
n.330-3426T>C
6g.33440907A>TCA363693933SYNGAP1,SYNGAP1-AS1c.1597A>T (p.Thr533Ser)
c.1855A>T (p.Thr619Ser)
c.*252A>T (n.*252A>T)
c.1678A>T (p.Thr560Ser)
c.1810A>T (p.Thr604Ser)
n.330-3426T>A
 ClinVar
6g.33440908C>ACA363693940SYNGAP1,SYNGAP1-AS1c.1598C>A (p.Thr533Asn)
c.1856C>A (p.Thr619Asn)
c.*253C>A (n.*253C>A)
c.1679C>A (p.Thr560Asn)
c.1811C>A (p.Thr604Asn)
n.330-3427G>T
6g.33440908C>GCA363693935SYNGAP1,SYNGAP1-AS1c.1598C>G (p.Thr533Ser)
c.1856C>G (p.Thr619Ser)
c.*253C>G (n.*253C>G)
c.1679C>G (p.Thr560Ser)
c.1811C>G (p.Thr604Ser)
n.330-3427G>C
6g.33440908C>TCA363693937SYNGAP1,SYNGAP1-AS1c.1598C>T (p.Thr533Ile)
c.1856C>T (p.Thr619Ile)
c.*253C>T (n.*253C>T)
c.1679C>T (p.Thr560Ile)
c.1811C>T (p.Thr604Ile)
n.330-3427G>A
6g.33440909C>ACA450108271SYNGAP1,SYNGAP1-AS1c.1599C>A (p.Thr533=)
c.1857C>A (p.Thr619=)
c.*254C>A (n.*254C>A)
c.1680C>A (p.Thr560=)
c.1812C>A (p.Thr604=)
n.330-3428G>T
6g.33440909C>GCA450108272SYNGAP1,SYNGAP1-AS1c.1599C>G (p.Thr533=)
c.1857C>G (p.Thr619=)
c.*254C>G (n.*254C>G)
c.1680C>G (p.Thr560=)
c.1812C>G (p.Thr604=)
n.330-3428G>C
6g.33440909C>TCA450108273SYNGAP1,SYNGAP1-AS1c.1599C>T (p.Thr533=)
c.1857C>T (p.Thr619=)
c.*254C>T (n.*254C>T)
c.1680C>T (p.Thr560=)
c.1812C>T (p.Thr604=)
n.330-3428G>A
6g.33440910T>ACA363693942SYNGAP1,SYNGAP1-AS1c.1600T>A (p.Ser534Thr)
c.1858T>A (p.Ser620Thr)
c.*255T>A (n.*255T>A)
c.1681T>A (p.Ser561Thr)
c.1813T>A (p.Ser605Thr)
n.330-3429A>T
6g.33440910T>CCA363693944SYNGAP1,SYNGAP1-AS1c.1600T>C (p.Ser534Pro)
c.1858T>C (p.Ser620Pro)
c.*255T>C (n.*255T>C)
c.1681T>C (p.Ser561Pro)
c.1813T>C (p.Ser605Pro)
n.330-3429A>G
6g.33440910T>GCA363693947SYNGAP1,SYNGAP1-AS1c.1600T>G (p.Ser534Ala)
c.1858T>G (p.Ser620Ala)
c.*255T>G (n.*255T>G)
c.1681T>G (p.Ser561Ala)
c.1813T>G (p.Ser605Ala)
n.330-3429A>C
6g.33440911C>ACA363693949SYNGAP1,SYNGAP1-AS1c.1601C>A (p.Ser534Ter)
c.1859C>A (p.Ser620Ter)
c.*256C>A (n.*256C>A)
c.1682C>A (p.Ser561Ter)
c.1814C>A (p.Ser605Ter)
n.330-3430G>T
6g.33440911C>GCA363693951SYNGAP1,SYNGAP1-AS1c.1601C>G (p.Ser534Ter)
c.1859C>G (p.Ser620Ter)
c.*256C>G (n.*256C>G)
c.1682C>G (p.Ser561Ter)
c.1814C>G (p.Ser605Ter)
n.330-3430G>C
6g.33440911C>TCA363693953SYNGAP1,SYNGAP1-AS1c.1601C>T (p.Ser534Leu)
c.1859C>T (p.Ser620Leu)
c.*256C>T (n.*256C>T)
c.1682C>T (p.Ser561Leu)
c.1814C>T (p.Ser605Leu)
n.330-3430G>A
6g.33440912A>CCA450108274SYNGAP1,SYNGAP1-AS1c.1602A>C (p.Ser534=)
c.1860A>C (p.Ser620=)
c.*257A>C (n.*257A>C)
c.1683A>C (p.Ser561=)
c.1815A>C (p.Ser605=)
n.330-3431T>G
6g.33440912A>GCA450108275SYNGAP1,SYNGAP1-AS1c.1602A>G (p.Ser534=)
c.1860A>G (p.Ser620=)
c.*257A>G (n.*257A>G)
c.1683A>G (p.Ser561=)
c.1815A>G (p.Ser605=)
n.330-3431T>C
6g.33440912A>TCA450108276SYNGAP1,SYNGAP1-AS1c.1602A>T (p.Ser534=)
c.1860A>T (p.Ser620=)
c.*257A>T (n.*257A>T)
c.1683A>T (p.Ser561=)
c.1815A>T (p.Ser605=)
n.330-3431T>A
6g.33440913C>ACA450108277SYNGAP1,SYNGAP1-AS1c.1603C>A (p.Arg535=)
c.1861C>A (p.Arg621=)
c.*258C>A (n.*258C>A)
c.1684C>A (p.Arg562=)
c.1816C>A (p.Arg606=)
n.330-3432G>T
6g.33440913C=CA1620013564SYNGAP1,SYNGAP1-AS1c.1603C= (p.Arg535=)
c.1861C= (p.Arg621=)
c.*258C= (n.*258C=)
c.1684C= (p.Arg562=)
c.1816C= (p.Arg606=)
n.330-3432G=
6g.33440913C>GCA363693956SYNGAP1,SYNGAP1-AS1c.1603C>G (p.Arg535Gly)
c.1861C>G (p.Arg621Gly)
c.*258C>G (n.*258C>G)
c.1684C>G (p.Arg562Gly)
c.1816C>G (p.Arg606Gly)
n.330-3432G>C
 gnomAD v4
6g.33440913C>TCA16612033SYNGAP1,SYNGAP1-AS1c.1603C>T (p.Arg535Ter)
c.1861C>T (p.Arg621Ter)
c.*258C>T (n.*258C>T)
c.1684C>T (p.Arg562Ter)
c.1816C>T (p.Arg606Ter)
n.330-3432G>A
 ClinVar dbSNP
6g.33440914G>ACA3758720SYNGAP1,SYNGAP1-AS1c.1604G>A (p.Arg535Gln)
c.1862G>A (p.Arg621Gln)
c.*259G>A (n.*259G>A)
c.1685G>A (p.Arg562Gln)
c.1817G>A (p.Arg606Gln)
n.330-3433C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6g.33440914G>CCA363693969SYNGAP1,SYNGAP1-AS1c.1604G>C (p.Arg535Pro)
c.1862G>C (p.Arg621Pro)
c.*259G>C (n.*259G>C)
c.1685G>C (p.Arg562Pro)
c.1817G>C (p.Arg606Pro)
n.330-3433C>G
6g.33440914G=CA1620013565SYNGAP1,SYNGAP1-AS1c.1604G= (p.Arg535=)
c.1862G= (p.Arg621=)
c.*259G= (n.*259G=)
c.1685G= (p.Arg562=)
c.1817G= (p.Arg606=)
n.330-3433C=
6g.33440914G>TCA363693972SYNGAP1,SYNGAP1-AS1c.1604G>T (p.Arg535Leu)
c.1862G>T (p.Arg621Leu)
c.*259G>T (n.*259G>T)
c.1685G>T (p.Arg562Leu)
c.1817G>T (p.Arg606Leu)
n.330-3433C>A
6g.33440915A=CA1620013566SYNGAP1,SYNGAP1-AS1c.1605A= (p.Arg535=)
c.1863A= (p.Arg621=)
c.*260A= (n.*260A=)
c.1686A= (p.Arg562=)
c.1818A= (p.Arg606=)
n.330-3434T=
6g.33440915A>CCA450108280SYNGAP1,SYNGAP1-AS1c.1605A>C (p.Arg535=)
c.1863A>C (p.Arg621=)
c.*260A>C (n.*260A>C)
c.1686A>C (p.Arg562=)
c.1818A>C (p.Arg606=)
n.330-3434T>G
6g.33440915A>GCA450108279SYNGAP1,SYNGAP1-AS1c.1605A>G (p.Arg535=)
c.1863A>G (p.Arg621=)
c.*260A>G (n.*260A>G)
c.1686A>G (p.Arg562=)
c.1818A>G (p.Arg606=)
n.330-3434T>C
6g.33440915A>TCA450108278SYNGAP1,SYNGAP1-AS1c.1605A>T (p.Arg535=)
c.1863A>T (p.Arg621=)
c.*260A>T (n.*260A>T)
c.1686A>T (p.Arg562=)
c.1818A>T (p.Arg606=)
n.330-3434T>A
 dbSNP
6g.33440915_33440921delinsAACCCTCCA1620013567SYNGAP1,SYNGAP1-AS1c.1605_1611delinsAACCCTC (p.Arg535=)
c.1863_1869delinsAACCCTC (p.Arg621=)
c.*260_*266delinsAACCCTC (n.*260_*266delinsAACCCTC)
c.1686_1692delinsAACCCTC (p.Arg562=)
c.1818_1824delinsAACCCTC (p.Arg606=)
n.330-3440_330-3434delinsGAGGGTT
6g.33440916A>CCA363693977SYNGAP1,SYNGAP1-AS1c.1606A>C (p.Thr536Pro)
c.1864A>C (p.Thr622Pro)
c.*261A>C (n.*261A>C)
c.1687A>C (p.Thr563Pro)
c.1819A>C (p.Thr607Pro)
n.330-3435T>G
6g.33440916A>GCA363693982SYNGAP1,SYNGAP1-AS1c.1606A>G (p.Thr536Ala)
c.1864A>G (p.Thr622Ala)
c.*261A>G (n.*261A>G)
c.1687A>G (p.Thr563Ala)
c.1819A>G (p.Thr607Ala)
n.330-3435T>C
6g.33440916A>TCA363693975SYNGAP1,SYNGAP1-AS1c.1606A>T (p.Thr536Ser)
c.1864A>T (p.Thr622Ser)
c.*261A>T (n.*261A>T)
c.1687A>T (p.Thr563Ser)
c.1819A>T (p.Thr607Ser)
n.330-3435T>A
6g.33440923_33440928delCA645372819SYNGAP1,SYNGAP1-AS1c.1613_1618del (p.Thr538_Leu539del)
c.1871_1876del (p.Thr624_Leu625del)
c.*268_*273del (n.*268_*273del)
c.1694_1699del (p.Thr565_Leu566del)
c.1826_1831del (p.Thr609_Leu610del)
n.330-3440_330-3435del
 ClinVar dbSNP
6g.33440917C>ACA363693988SYNGAP1,SYNGAP1-AS1c.1607C>A (p.Thr536Asn)
c.1865C>A (p.Thr622Asn)
c.*262C>A (n.*262C>A)
c.1688C>A (p.Thr563Asn)
c.1820C>A (p.Thr607Asn)
n.330-3436G>T
6g.33440917C>GCA363693994SYNGAP1,SYNGAP1-AS1c.1607C>G (p.Thr536Ser)
c.1865C>G (p.Thr622Ser)
c.*262C>G (n.*262C>G)
c.1688C>G (p.Thr563Ser)
c.1820C>G (p.Thr607Ser)
n.330-3436G>C
6g.33440917C>TCA363693999SYNGAP1,SYNGAP1-AS1c.1607C>T (p.Thr536Ile)
c.1865C>T (p.Thr622Ile)
c.*262C>T (n.*262C>T)
c.1688C>T (p.Thr563Ile)
c.1820C>T (p.Thr607Ile)
n.330-3436G>A
6g.33440918C>ACA450108281SYNGAP1,SYNGAP1-AS1c.1608C>A (p.Thr536=)
c.1866C>A (p.Thr622=)
c.*263C>A (n.*263C>A)
c.1689C>A (p.Thr563=)
c.1821C>A (p.Thr607=)
n.330-3437G>T
6g.33440918C=CA1620013568SYNGAP1,SYNGAP1-AS1c.1608C= (p.Thr536=)
c.1866C= (p.Thr622=)
c.*263C= (n.*263C=)
c.1689C= (p.Thr563=)
c.1821C= (p.Thr607=)
n.330-3437G=
6g.33440918C>GCA450108282SYNGAP1,SYNGAP1-AS1c.1608C>G (p.Thr536=)
c.1866C>G (p.Thr622=)
c.*263C>G (n.*263C>G)
c.1689C>G (p.Thr563=)
c.1821C>G (p.Thr607=)
n.330-3437G>C
6g.33440918C>TCA450108283SYNGAP1,SYNGAP1-AS1c.1608C>T (p.Thr536=)
c.1866C>T (p.Thr622=)
c.*263C>T (n.*263C>T)
c.1689C>T (p.Thr563=)
c.1821C>T (p.Thr607=)
n.330-3437G>A
 dbSNP gnomAD v3 gnomAD v4
6g.33440919C>ACA363694012SYNGAP1,SYNGAP1-AS1c.1609C>A (p.Leu537Ile)
c.1867C>A (p.Leu623Ile)
c.*264C>A (n.*264C>A)
c.1690C>A (p.Leu564Ile)
c.1822C>A (p.Leu608Ile)
n.330-3438G>T
6g.33440919C>GCA363694013SYNGAP1,SYNGAP1-AS1c.1609C>G (p.Leu537Val)
c.1867C>G (p.Leu623Val)
c.*264C>G (n.*264C>G)
c.1690C>G (p.Leu564Val)
c.1822C>G (p.Leu608Val)
n.330-3438G>C
6g.33440919C>TCA363694015SYNGAP1,SYNGAP1-AS1c.1609C>T (p.Leu537Phe)
c.1867C>T (p.Leu623Phe)
c.*264C>T (n.*264C>T)
c.1690C>T (p.Leu564Phe)
c.1822C>T (p.Leu608Phe)
n.330-3438G>A
6g.33440920T>ACA363694017SYNGAP1,SYNGAP1-AS1c.1610T>A (p.Leu537His)
c.1868T>A (p.Leu623His)
c.*265T>A (n.*265T>A)
c.1691T>A (p.Leu564His)
c.1823T>A (p.Leu608His)
n.330-3439A>T
6g.33440920T>CCA363694019SYNGAP1,SYNGAP1-AS1c.1610T>C (p.Leu537Pro)
c.1868T>C (p.Leu623Pro)
c.*265T>C (n.*265T>C)
c.1691T>C (p.Leu564Pro)
c.1823T>C (p.Leu608Pro)
n.330-3439A>G
6g.33440920T>GCA363694020SYNGAP1,SYNGAP1-AS1c.1610T>G (p.Leu537Arg)
c.1868T>G (p.Leu623Arg)
c.*265T>G (n.*265T>G)
c.1691T>G (p.Leu564Arg)
c.1823T>G (p.Leu608Arg)
n.330-3439A>C
6g.33440921C>ACA450108284SYNGAP1,SYNGAP1-AS1c.1611C>A (p.Leu537=)
c.1869C>A (p.Leu623=)
c.*266C>A (n.*266C>A)
c.1692C>A (p.Leu564=)
c.1824C>A (p.Leu608=)
n.330-3440G>T
6g.33440921C>GCA450108285SYNGAP1,SYNGAP1-AS1c.1611C>G (p.Leu537=)
c.1869C>G (p.Leu623=)
c.*266C>G (n.*266C>G)
c.1692C>G (p.Leu564=)
c.1824C>G (p.Leu608=)
n.330-3440G>C
6g.33440921C>TCA450108286SYNGAP1,SYNGAP1-AS1c.1611C>T (p.Leu537=)
c.1869C>T (p.Leu623=)
c.*266C>T (n.*266C>T)
c.1692C>T (p.Leu564=)
c.1824C>T (p.Leu608=)
n.330-3440G>A
6g.33440922A>CCA363694021SYNGAP1,SYNGAP1-AS1c.1612A>C (p.Thr538Pro)
c.1870A>C (p.Thr624Pro)
c.*267A>C (n.*267A>C)
c.1693A>C (p.Thr565Pro)
c.1825A>C (p.Thr609Pro)
n.330-3441T>G
6g.33440922A>GCA363694025SYNGAP1,SYNGAP1-AS1c.1612A>G (p.Thr538Ala)
c.1870A>G (p.Thr624Ala)
c.*267A>G (n.*267A>G)
c.1693A>G (p.Thr565Ala)
c.1825A>G (p.Thr609Ala)
n.330-3441T>C
6g.33440922A>TCA363694027SYNGAP1,SYNGAP1-AS1c.1612A>T (p.Thr538Ser)
c.1870A>T (p.Thr624Ser)
c.*267A>T (n.*267A>T)
c.1693A>T (p.Thr565Ser)
c.1825A>T (p.Thr609Ser)
n.330-3441T>A
6g.33440923C>ACA363694034SYNGAP1,SYNGAP1-AS1c.1613C>A (p.Thr538Asn)
c.1871C>A (p.Thr624Asn)
c.*268C>A (n.*268C>A)
c.1694C>A (p.Thr565Asn)
c.1826C>A (p.Thr609Asn)
n.330-3442G>T
6g.33440923C>GCA363694036SYNGAP1,SYNGAP1-AS1c.1613C>G (p.Thr538Ser)
c.1871C>G (p.Thr624Ser)
c.*268C>G (n.*268C>G)
c.1694C>G (p.Thr565Ser)
c.1826C>G (p.Thr609Ser)
n.330-3442G>C
6g.33440923C>TCA363694032SYNGAP1,SYNGAP1-AS1c.1613C>T (p.Thr538Ile)
c.1871C>T (p.Thr624Ile)
c.*268C>T (n.*268C>T)
c.1694C>T (p.Thr565Ile)
c.1826C>T (p.Thr609Ile)
n.330-3442G>A
6g.33440924C>ACA450108287SYNGAP1,SYNGAP1-AS1c.1614C>A (p.Thr538=)
c.1872C>A (p.Thr624=)
c.*269C>A (n.*269C>A)
c.1695C>A (p.Thr565=)
c.1827C>A (p.Thr609=)
n.330-3443G>T
6g.33440924C=CA1620013569SYNGAP1,SYNGAP1-AS1c.1614C= (p.Thr538=)
c.1872C= (p.Thr624=)
c.*269C= (n.*269C=)
c.1695C= (p.Thr565=)
c.1827C= (p.Thr609=)
n.330-3443G=
6g.33440924C>GCA450108288SYNGAP1,SYNGAP1-AS1c.1614C>G (p.Thr538=)
c.1872C>G (p.Thr624=)
c.*269C>G (n.*269C>G)
c.1695C>G (p.Thr565=)
c.1827C>G (p.Thr609=)
n.330-3443G>C
6g.33440924C>TCA450108289SYNGAP1,SYNGAP1-AS1c.1614C>T (p.Thr538=)
c.1872C>T (p.Thr624=)
c.*269C>T (n.*269C>T)
c.1695C>T (p.Thr565=)
c.1827C>T (p.Thr609=)
n.330-3443G>A
 dbSNP gnomAD v3 gnomAD v4
6g.33440925C>ACA363694037SYNGAP1,SYNGAP1-AS1c.1615C>A (p.Leu539Ile)
c.1873C>A (p.Leu625Ile)
c.*270C>A (n.*270C>A)
c.1696C>A (p.Leu566Ile)
c.1828C>A (p.Leu610Ile)
n.330-3444G>T
6g.33440925C>GCA363694038SYNGAP1,SYNGAP1-AS1c.1615C>G (p.Leu539Val)
c.1873C>G (p.Leu625Val)
c.*270C>G (n.*270C>G)
c.1696C>G (p.Leu566Val)
c.1828C>G (p.Leu610Val)
n.330-3444G>C
6g.33440925C>TCA363694041SYNGAP1,SYNGAP1-AS1c.1615C>T (p.Leu539Phe)
c.1873C>T (p.Leu625Phe)
c.*270C>T (n.*270C>T)
c.1696C>T (p.Leu566Phe)
c.1828C>T (p.Leu610Phe)
n.330-3444G>A
 COSMIC COSMIC
6g.33440926T>ACA363694042SYNGAP1,SYNGAP1-AS1c.1616T>A (p.Leu539His)
c.1874T>A (p.Leu625His)
c.*271T>A (n.*271T>A)
c.1697T>A (p.Leu566His)
c.1829T>A (p.Leu610His)
n.330-3445A>T
6g.33440926T>CCA363694043SYNGAP1,SYNGAP1-AS1c.1616T>C (p.Leu539Pro)
c.1874T>C (p.Leu625Pro)
c.*271T>C (n.*271T>C)
c.1697T>C (p.Leu566Pro)
c.1829T>C (p.Leu610Pro)
n.330-3445A>G
6g.33440926T>GCA363694045SYNGAP1,SYNGAP1-AS1c.1616T>G (p.Leu539Arg)
c.1874T>G (p.Leu625Arg)
c.*271T>G (n.*271T>G)
c.1697T>G (p.Leu566Arg)
c.1829T>G (p.Leu610Arg)
n.330-3445A>C
6g.33440927C>ACA450108290SYNGAP1,SYNGAP1-AS1c.1617C>A (p.Leu539=)
c.1875C>A (p.Leu625=)
c.*272C>A (n.*272C>A)
c.1698C>A (p.Leu566=)
c.1830C>A (p.Leu610=)
n.330-3446G>T
6g.33440927C>GCA450108291SYNGAP1,SYNGAP1-AS1c.1617C>G (p.Leu539=)
c.1875C>G (p.Leu625=)
c.*272C>G (n.*272C>G)
c.1698C>G (p.Leu566=)
c.1830C>G (p.Leu610=)
n.330-3446G>C
6g.33440927C>TCA450108292SYNGAP1,SYNGAP1-AS1c.1617C>T (p.Leu539=)
c.1875C>T (p.Leu625=)
c.*272C>T (n.*272C>T)
c.1698C>T (p.Leu566=)
c.1830C>T (p.Leu610=)
n.330-3446G>A
6g.33440928A>CCA363694046SYNGAP1,SYNGAP1-AS1c.1618A>C (p.Ile540Leu)
c.1876A>C (p.Ile626Leu)
c.*273A>C (n.*273A>C)
c.1699A>C (p.Ile567Leu)
c.1831A>C (p.Ile611Leu)
n.330-3447T>G
6g.33440928A>GCA363694049SYNGAP1,SYNGAP1-AS1c.1618A>G (p.Ile540Val)
c.1876A>G (p.Ile626Val)
c.*273A>G (n.*273A>G)
c.1699A>G (p.Ile567Val)
c.1831A>G (p.Ile611Val)
n.330-3447T>C
6g.33440928A>TCA363694047SYNGAP1,SYNGAP1-AS1c.1618A>T (p.Ile540Phe)
c.1876A>T (p.Ile626Phe)
c.*273A>T (n.*273A>T)
c.1699A>T (p.Ile567Phe)
c.1831A>T (p.Ile611Phe)
n.330-3447T>A
6g.33440929T>ACA363694051SYNGAP1,SYNGAP1-AS1c.1619T>A (p.Ile540Asn)
c.1877T>A (p.Ile626Asn)
c.*274T>A (n.*274T>A)
c.1700T>A (p.Ile567Asn)
c.1832T>A (p.Ile611Asn)
n.330-3448A>T
6g.33440929T>CCA363694054SYNGAP1,SYNGAP1-AS1c.1619T>C (p.Ile540Thr)
c.1877T>C (p.Ile626Thr)
c.*274T>C (n.*274T>C)
c.1700T>C (p.Ile567Thr)
c.1832T>C (p.Ile611Thr)
n.330-3448A>G
6g.33440929T>GCA363694060SYNGAP1,SYNGAP1-AS1c.1619T>G (p.Ile540Ser)
c.1877T>G (p.Ile626Ser)
c.*274T>G (n.*274T>G)
c.1700T>G (p.Ile567Ser)
c.1832T>G (p.Ile611Ser)
n.330-3448A>C
6g.33440930T>ACA450108293SYNGAP1,SYNGAP1-AS1c.1620T>A (p.Ile540=)
c.1878T>A (p.Ile626=)
c.*275T>A (n.*275T>A)
c.1701T>A (p.Ile567=)
c.1833T>A (p.Ile611=)
n.330-3449A>T
6g.33440930T>CCA450108294SYNGAP1,SYNGAP1-AS1c.1620T>C (p.Ile540=)
c.1878T>C (p.Ile626=)
c.*275T>C (n.*275T>C)
c.1701T>C (p.Ile567=)
c.1833T>C (p.Ile611=)
n.330-3449A>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.33440930T>GCA363694070SYNGAP1,SYNGAP1-AS1c.1620T>G (p.Ile540Met)
c.1878T>G (p.Ile626Met)
c.*275T>G (n.*275T>G)
c.1701T>G (p.Ile567Met)
c.1833T>G (p.Ile611Met)
n.330-3449A>C
6g.33440930T=CA1620013570SYNGAP1,SYNGAP1-AS1c.1620T= (p.Ile540=)
c.1878T= (p.Ile626=)
c.*275T= (n.*275T=)
c.1701T= (p.Ile567=)
c.1833T= (p.Ile611=)
n.330-3449A=
6g.33440931G>ACA363694073SYNGAP1,SYNGAP1-AS1c.1621G>A (p.Ala541Thr)
c.1879G>A (p.Ala627Thr)
c.*276G>A (n.*276G>A)
c.1702G>A (p.Ala568Thr)
c.1834G>A (p.Ala612Thr)
n.330-3450C>T
6g.33440931G>CCA363694072SYNGAP1,SYNGAP1-AS1c.1621G>C (p.Ala541Pro)
c.1879G>C (p.Ala627Pro)
c.*276G>C (n.*276G>C)
c.1702G>C (p.Ala568Pro)
c.1834G>C (p.Ala612Pro)
n.330-3450C>G
6g.33440931G>TCA363694071SYNGAP1,SYNGAP1-AS1c.1621G>T (p.Ala541Ser)
c.1879G>T (p.Ala627Ser)
c.*276G>T (n.*276G>T)
c.1702G>T (p.Ala568Ser)
c.1834G>T (p.Ala612Ser)
n.330-3450C>A
6g.33440932C>ACA363694076SYNGAP1,SYNGAP1-AS1c.1622C>A (p.Ala541Asp)
c.1880C>A (p.Ala627Asp)
c.*277C>A (n.*277C>A)
c.1703C>A (p.Ala568Asp)
c.1835C>A (p.Ala612Asp)
n.330-3451G>T
6g.33440932C>GCA363694082SYNGAP1,SYNGAP1-AS1c.1622C>G (p.Ala541Gly)
c.1880C>G (p.Ala627Gly)
c.*277C>G (n.*277C>G)
c.1703C>G (p.Ala568Gly)
c.1835C>G (p.Ala612Gly)
n.330-3451G>C
6g.33440932C>TCA363694080SYNGAP1,SYNGAP1-AS1c.1622C>T (p.Ala541Val)
c.1880C>T (p.Ala627Val)
c.*277C>T (n.*277C>T)
c.1703C>T (p.Ala568Val)
c.1835C>T (p.Ala612Val)
n.330-3451G>A
6g.33440933C>ACA450108295SYNGAP1,SYNGAP1-AS1c.1623C>A (p.Ala541=)
c.1881C>A (p.Ala627=)
c.*278C>A (n.*278C>A)
c.1704C>A (p.Ala568=)
c.1836C>A (p.Ala612=)
n.330-3452G>T
6g.33440933C>GCA450108296SYNGAP1,SYNGAP1-AS1c.1623C>G (p.Ala541=)
c.1881C>G (p.Ala627=)
c.*278C>G (n.*278C>G)
c.1704C>G (p.Ala568=)
c.1836C>G (p.Ala612=)
n.330-3452G>C
6g.33440933C>TCA450108297SYNGAP1,SYNGAP1-AS1c.1623C>T (p.Ala541=)
c.1881C>T (p.Ala627=)
c.*278C>T (n.*278C>T)
c.1704C>T (p.Ala568=)
c.1836C>T (p.Ala612=)
n.330-3452G>A
 COSMIC COSMIC
6g.33440934A=CA1620013571SYNGAP1,SYNGAP1-AS1c.1624A= (p.Lys542=)
c.1882A= (p.Lys628=)
c.*279A= (n.*279A=)
c.1705A= (p.Lys569=)
c.1837A= (p.Lys613=)
n.330-3453T=
6g.33440934A>CCA363694085SYNGAP1,SYNGAP1-AS1c.1624A>C (p.Lys542Gln)
c.1882A>C (p.Lys628Gln)
c.*279A>C (n.*279A>C)
c.1705A>C (p.Lys569Gln)
c.1837A>C (p.Lys613Gln)
n.330-3453T>G
6g.33440934A>GCA363694090SYNGAP1,SYNGAP1-AS1c.1624A>G (p.Lys542Glu)
c.1882A>G (p.Lys628Glu)
c.*279A>G (n.*279A>G)
c.1705A>G (p.Lys569Glu)
c.1837A>G (p.Lys613Glu)
n.330-3453T>C
6g.33440934A>TCA363694087SYNGAP1,SYNGAP1-AS1c.1624A>T (p.Lys542Ter)
c.1882A>T (p.Lys628Ter)
c.*279A>T (n.*279A>T)
c.1705A>T (p.Lys569Ter)
c.1837A>T (p.Lys613Ter)
n.330-3453T>A
 dbSNP
6g.33440935A>CCA363694096SYNGAP1,SYNGAP1-AS1c.1625A>C (p.Lys542Thr)
c.1883A>C (p.Lys628Thr)
c.*280A>C (n.*280A>C)
c.1706A>C (p.Lys569Thr)
c.1838A>C (p.Lys613Thr)
n.330-3454T>G
6g.33440935A>GCA363694103SYNGAP1,SYNGAP1-AS1c.1625A>G (p.Lys542Arg)
c.1883A>G (p.Lys628Arg)
c.*280A>G (n.*280A>G)
c.1706A>G (p.Lys569Arg)
c.1838A>G (p.Lys613Arg)
n.330-3454T>C
 gnomAD v4
6g.33440935A>TCA363694100SYNGAP1,SYNGAP1-AS1c.1625A>T (p.Lys542Met)
c.1883A>T (p.Lys628Met)
c.*280A>T (n.*280A>T)
c.1706A>T (p.Lys569Met)
c.1838A>T (p.Lys613Met)
n.330-3454T>A
6g.33440936G>ACA3758721SYNGAP1,SYNGAP1-AS1c.1626G>A (p.Lys542=)
c.1884G>A (p.Lys628=)
c.*281G>A (n.*281G>A)
c.1707G>A (p.Lys569=)
c.1839G>A (p.Lys613=)
n.330-3455C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.33440936G>CCA363694113SYNGAP1,SYNGAP1-AS1c.1626G>C (p.Lys542Asn)
c.1884G>C (p.Lys628Asn)
c.*281G>C (n.*281G>C)
c.1707G>C (p.Lys569Asn)
c.1839G>C (p.Lys613Asn)
n.330-3455C>G
 dbSNP gnomAD v2
6g.33440936G=CA1620013572SYNGAP1,SYNGAP1-AS1c.1626G= (p.Lys542=)
c.1884G= (p.Lys628=)
c.*281G= (n.*281G=)
c.1707G= (p.Lys569=)
c.1839G= (p.Lys613=)
n.330-3455C=
6g.33440936G>TCA363694109SYNGAP1,SYNGAP1-AS1c.1626G>T (p.Lys542Asn)
c.1884G>T (p.Lys628Asn)
c.*281G>T (n.*281G>T)
c.1707G>T (p.Lys569Asn)
c.1839G>T (p.Lys613Asn)
n.330-3455C>A
 gnomAD v4
6g.33440937G>ACA137098920SYNGAP1,SYNGAP1-AS1c.1627G>A (p.Val543Ile)
c.1885G>A (p.Val629Ile)
c.*282G>A (n.*282G>A)
c.1708G>A (p.Val570Ile)
c.1840G>A (p.Val614Ile)
n.330-3456C>T
 dbSNP
6g.33440937G>CCA363694128SYNGAP1,SYNGAP1-AS1c.1627G>C (p.Val543Leu)
c.1885G>C (p.Val629Leu)
c.*282G>C (n.*282G>C)
c.1708G>C (p.Val570Leu)
c.1840G>C (p.Val614Leu)
n.330-3456C>G
6g.33440937G=CA1620013573SYNGAP1,SYNGAP1-AS1c.1627G= (p.Val543=)
c.1885G= (p.Val629=)
c.*282G= (n.*282G=)
c.1708G= (p.Val570=)
c.1840G= (p.Val614=)
n.330-3456C=
6g.33440937G>TCA363694127SYNGAP1,SYNGAP1-AS1c.1627G>T (p.Val543Phe)
c.1885G>T (p.Val629Phe)
c.*282G>T (n.*282G>T)
c.1708G>T (p.Val570Phe)
c.1840G>T (p.Val614Phe)
n.330-3456C>A
6g.33440938T>ACA363694131SYNGAP1,SYNGAP1-AS1c.1628T>A (p.Val543Asp)
c.1886T>A (p.Val629Asp)
c.*283T>A (n.*283T>A)
c.1709T>A (p.Val570Asp)
c.1841T>A (p.Val614Asp)
n.330-3457A>T
6g.33440938T>CCA363694135SYNGAP1,SYNGAP1-AS1c.1628T>C (p.Val543Ala)
c.1886T>C (p.Val629Ala)
c.*283T>C (n.*283T>C)
c.1709T>C (p.Val570Ala)
c.1841T>C (p.Val614Ala)
n.330-3457A>G
6g.33440938T>GCA363694133SYNGAP1,SYNGAP1-AS1c.1628T>G (p.Val543Gly)
c.1886T>G (p.Val629Gly)
c.*283T>G (n.*283T>G)
c.1709T>G (p.Val570Gly)
c.1841T>G (p.Val614Gly)
n.330-3457A>C
6g.33440939C>ACA450108298SYNGAP1,SYNGAP1-AS1c.1629C>A (p.Val543=)
c.1887C>A (p.Val629=)
c.*284C>A (n.*284C>A)
c.1710C>A (p.Val570=)
c.1842C>A (p.Val614=)
n.330-3458G>T
 ClinVar
6g.33440939C>GCA450108299SYNGAP1,SYNGAP1-AS1c.1629C>G (p.Val543=)
c.1887C>G (p.Val629=)
c.*284C>G (n.*284C>G)
c.1710C>G (p.Val570=)
c.1842C>G (p.Val614=)
n.330-3458G>C
6g.33440939C>TCA450108300SYNGAP1,SYNGAP1-AS1c.1629C>T (p.Val543=)
c.1887C>T (p.Val629=)
c.*284C>T (n.*284C>T)
c.1710C>T (p.Val570=)
c.1842C>T (p.Val614=)
n.330-3458G>A
 ClinVar dbSNP
6g.33440940A=CA1620013574SYNGAP1,SYNGAP1-AS1c.1630A= (p.Ile544=)
c.1888A= (p.Ile630=)
c.*285A= (n.*285A=)
c.1711A= (p.Ile571=)
c.1843A= (p.Ile615=)
n.330-3459T=
6g.33440940A>CCA363694138SYNGAP1,SYNGAP1-AS1c.1630A>C (p.Ile544Leu)
c.1888A>C (p.Ile630Leu)
c.*285A>C (n.*285A>C)
c.1711A>C (p.Ile571Leu)
c.1843A>C (p.Ile615Leu)
n.330-3459T>G
 gnomAD v4
6g.33440940A>GCA3758722SYNGAP1,SYNGAP1-AS1c.1630A>G (p.Ile544Val)
c.1888A>G (p.Ile630Val)
c.*285A>G (n.*285A>G)
c.1711A>G (p.Ile571Val)
c.1843A>G (p.Ile615Val)
n.330-3459T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.33440940A>TCA363694139SYNGAP1,SYNGAP1-AS1c.1630A>T (p.Ile544Phe)
c.1888A>T (p.Ile630Phe)
c.*285A>T (n.*285A>T)
c.1711A>T (p.Ile571Phe)
c.1843A>T (p.Ile615Phe)
n.330-3459T>A
6g.33440941T>ACA363694141SYNGAP1,SYNGAP1-AS1c.1631T>A (p.Ile544Asn)
c.1889T>A (p.Ile630Asn)
c.*286T>A (n.*286T>A)
c.1712T>A (p.Ile571Asn)
c.1844T>A (p.Ile615Asn)
n.330-3460A>T
6g.33440941T>CCA363694146SYNGAP1,SYNGAP1-AS1c.1631T>C (p.Ile544Thr)
c.1889T>C (p.Ile630Thr)
c.*286T>C (n.*286T>C)
c.1712T>C (p.Ile571Thr)
c.1844T>C (p.Ile615Thr)
n.330-3460A>G
6g.33440941T>GCA363694143SYNGAP1,SYNGAP1-AS1c.1631T>G (p.Ile544Ser)
c.1889T>G (p.Ile630Ser)
c.*286T>G (n.*286T>G)
c.1712T>G (p.Ile571Ser)
c.1844T>G (p.Ile615Ser)
n.330-3460A>C
6g.33440942C>ACA450108301SYNGAP1,SYNGAP1-AS1c.1632C>A (p.Ile544=)
c.1890C>A (p.Ile630=)
c.*287C>A (n.*287C>A)
c.1713C>A (p.Ile571=)
c.1845C>A (p.Ile615=)
n.330-3461G>T
 gnomAD v4
6g.33440942C>GCA363694147SYNGAP1,SYNGAP1-AS1c.1632C>G (p.Ile544Met)
c.1890C>G (p.Ile630Met)
c.*287C>G (n.*287C>G)
c.1713C>G (p.Ile571Met)
c.1845C>G (p.Ile615Met)
n.330-3461G>C
 gnomAD v4 COSMIC COSMIC
6g.33440942C>TCA450108302SYNGAP1,SYNGAP1-AS1c.1632C>T (p.Ile544=)
c.1890C>T (p.Ile630=)
c.*287C>T (n.*287C>T)
c.1713C>T (p.Ile571=)
c.1845C>T (p.Ile615=)
n.330-3461G>A
6g.33440943C>ACA363694151SYNGAP1,SYNGAP1-AS1c.1633C>A (p.Gln545Lys)
c.1891C>A (p.Gln631Lys)
c.*288C>A (n.*288C>A)
c.1714C>A (p.Gln572Lys)
c.1846C>A (p.Gln616Lys)
n.330-3462G>T
6g.33440943C=CA1620013575SYNGAP1,SYNGAP1-AS1c.1633C= (p.Gln545=)
c.1891C= (p.Gln631=)
c.*288C= (n.*288C=)
c.1714C= (p.Gln572=)
c.1846C= (p.Gln616=)
n.330-3462G=
6g.33440943C>GCA363694153SYNGAP1,SYNGAP1-AS1c.1633C>G (p.Gln545Glu)
c.1891C>G (p.Gln631Glu)
c.*288C>G (n.*288C>G)
c.1714C>G (p.Gln572Glu)
c.1846C>G (p.Gln616Glu)
n.330-3462G>C
6g.33440943C>TCA363694158SYNGAP1,SYNGAP1-AS1c.1633C>T (p.Gln545Ter)
c.1891C>T (p.Gln631Ter)
c.*288C>T (n.*288C>T)
c.1714C>T (p.Gln572Ter)
c.1846C>T (p.Gln616Ter)
n.330-3462G>A
 ClinVar dbSNP
6g.33440944A>CCA363694160SYNGAP1,SYNGAP1-AS1c.1634A>C (p.Gln545Pro)
c.1892A>C (p.Gln631Pro)
c.*289A>C (n.*289A>C)
c.1715A>C (p.Gln572Pro)
c.1847A>C (p.Gln616Pro)
n.330-3463T>G
6g.33440944A>GCA363694162SYNGAP1,SYNGAP1-AS1c.1634A>G (p.Gln545Arg)
c.1892A>G (p.Gln631Arg)
c.*289A>G (n.*289A>G)
c.1715A>G (p.Gln572Arg)
c.1847A>G (p.Gln616Arg)
n.330-3463T>C
6g.33440944A>TCA363694164SYNGAP1,SYNGAP1-AS1c.1634A>T (p.Gln545Leu)
c.1892A>T (p.Gln631Leu)
c.*289A>T (n.*289A>T)
c.1715A>T (p.Gln572Leu)
c.1847A>T (p.Gln616Leu)
n.330-3463T>A
6g.33440945G>ACA450108303SYNGAP1,SYNGAP1-AS1c.1635G>A (p.Gln545=)
c.1893G>A (p.Gln631=)
c.*290G>A (n.*290G>A)
c.1716G>A (p.Gln572=)
c.1848G>A (p.Gln616=)
n.330-3464C>T
6g.33440945G>CCA363694166SYNGAP1,SYNGAP1-AS1c.1635G>C (p.Gln545His)
c.1893G>C (p.Gln631His)
c.*290G>C (n.*290G>C)
c.1716G>C (p.Gln572His)
c.1848G>C (p.Gln616His)
n.330-3464C>G
 gnomAD v4
6g.33440945G>TCA363694168SYNGAP1,SYNGAP1-AS1c.1635G>T (p.Gln545His)
c.1893G>T (p.Gln631His)
c.*290G>T (n.*290G>T)
c.1716G>T (p.Gln572His)
c.1848G>T (p.Gln616His)
n.330-3464C>A
6g.33440946A>CCA363694170SYNGAP1,SYNGAP1-AS1c.1636A>C (p.Asn546His)
c.1894A>C (p.Asn632His)
c.*291A>C (n.*291A>C)
c.1717A>C (p.Asn573His)
c.1849A>C (p.Asn617His)
n.330-3465T>G
6g.33440946A>GCA363694172SYNGAP1,SYNGAP1-AS1c.1636A>G (p.Asn546Asp)
c.1894A>G (p.Asn632Asp)
c.*291A>G (n.*291A>G)
c.1717A>G (p.Asn573Asp)
c.1849A>G (p.Asn617Asp)
n.330-3465T>C
6g.33440946A>TCA363694174SYNGAP1,SYNGAP1-AS1c.1636A>T (p.Asn546Tyr)
c.1894A>T (p.Asn632Tyr)
c.*291A>T (n.*291A>T)
c.1717A>T (p.Asn573Tyr)
c.1849A>T (p.Asn617Tyr)
n.330-3465T>A
6g.33440947A>CCA363694177SYNGAP1,SYNGAP1-AS1c.1637A>C (p.Asn546Thr)
c.1895A>C (p.Asn632Thr)
c.*292A>C (n.*292A>C)
c.1718A>C (p.Asn573Thr)
c.1850A>C (p.Asn617Thr)
n.330-3466T>G
6g.33440947A>GCA363694181SYNGAP1,SYNGAP1-AS1c.1637A>G (p.Asn546Ser)
c.1895A>G (p.Asn632Ser)
c.*292A>G (n.*292A>G)
c.1718A>G (p.Asn573Ser)
c.1850A>G (p.Asn617Ser)
n.330-3466T>C
6g.33440947A>TCA363694180SYNGAP1,SYNGAP1-AS1c.1637A>T (p.Asn546Ile)
c.1895A>T (p.Asn632Ile)
c.*292A>T (n.*292A>T)
c.1718A>T (p.Asn573Ile)
c.1850A>T (p.Asn617Ile)
n.330-3466T>A
6g.33440948C>ACA3758723SYNGAP1,SYNGAP1-AS1c.1638C>A (p.Asn546Lys)
c.1896C>A (p.Asn632Lys)
c.*293C>A (n.*293C>A)
c.1719C>A (p.Asn573Lys)
c.1851C>A (p.Asn617Lys)
n.330-3467G>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.33440948C=CA1620013576SYNGAP1,SYNGAP1-AS1c.1638C= (p.Asn546=)
c.1896C= (p.Asn632=)
c.*293C= (n.*293C=)
c.1719C= (p.Asn573=)
c.1851C= (p.Asn617=)
n.330-3467G=
6g.33440948C>GCA363694185SYNGAP1,SYNGAP1-AS1c.1638C>G (p.Asn546Lys)
c.1896C>G (p.Asn632Lys)
c.*293C>G (n.*293C>G)
c.1719C>G (p.Asn573Lys)
c.1851C>G (p.Asn617Lys)
n.330-3467G>C
6g.33440948C>TCA450108304SYNGAP1,SYNGAP1-AS1c.1638C>T (p.Asn546=)
c.1896C>T (p.Asn632=)
c.*293C>T (n.*293C>T)
c.1719C>T (p.Asn573=)
c.1851C>T (p.Asn617=)
n.330-3467G>A
6g.33440949C>ACA363694188SYNGAP1,SYNGAP1-AS1c.1639C>A (p.Leu547Met)
c.1897C>A (p.Leu633Met)
c.*294C>A (n.*294C>A)
c.1720C>A (p.Leu574Met)
c.1852C>A (p.Leu618Met)
n.330-3468G>T
6g.33440949C=CA1620013577SYNGAP1,SYNGAP1-AS1c.1639C= (p.Leu547=)
c.1897C= (p.Leu633=)
c.*294C= (n.*294C=)
c.1720C= (p.Leu574=)
c.1852C= (p.Leu618=)
n.330-3468G=
6g.33440949C>GCA363694190SYNGAP1,SYNGAP1-AS1c.1639C>G (p.Leu547Val)
c.1897C>G (p.Leu633Val)
c.*294C>G (n.*294C>G)
c.1720C>G (p.Leu574Val)
c.1852C>G (p.Leu618Val)
n.330-3468G>C
 dbSNP gnomAD v2 gnomAD v4
6g.33440949C>TCA450108305SYNGAP1,SYNGAP1-AS1c.1639C>T (p.Leu547=)
c.1897C>T (p.Leu633=)
c.*294C>T (n.*294C>T)
c.1720C>T (p.Leu574=)
c.1852C>T (p.Leu618=)
n.330-3468G>A
6g.33440950T>ACA363694198SYNGAP1,SYNGAP1-AS1c.1640T>A (p.Leu547Gln)
c.1898T>A (p.Leu633Gln)
c.*295T>A (n.*295T>A)
c.1721T>A (p.Leu574Gln)
c.1853T>A (p.Leu618Gln)
n.330-3469A>T
6g.33440950T>CCA363694200SYNGAP1,SYNGAP1-AS1c.1640T>C (p.Leu547Pro)
c.1898T>C (p.Leu633Pro)
c.*295T>C (n.*295T>C)
c.1721T>C (p.Leu574Pro)
c.1853T>C (p.Leu618Pro)
n.330-3469A>G
 ClinVar dbSNP
6g.33440950T>GCA363694203SYNGAP1,SYNGAP1-AS1c.1640T>G (p.Leu547Arg)
c.1898T>G (p.Leu633Arg)
c.*295T>G (n.*295T>G)
c.1721T>G (p.Leu574Arg)
c.1853T>G (p.Leu618Arg)
n.330-3469A>C
6g.33440950T=CA1620013578SYNGAP1,SYNGAP1-AS1c.1640T= (p.Leu547=)
c.1898T= (p.Leu633=)
c.*295T= (n.*295T=)
c.1721T= (p.Leu574=)
c.1853T= (p.Leu618=)
n.330-3469A=
6g.33440951G>ACA450108306SYNGAP1,SYNGAP1-AS1c.1641G>A (p.Leu547=)
c.1899G>A (p.Leu633=)
c.*296G>A (n.*296G>A)
c.1722G>A (p.Leu574=)
c.1854G>A (p.Leu618=)
n.330-3470C>T
6g.33440951G>CCA450108307SYNGAP1,SYNGAP1-AS1c.1641G>C (p.Leu547=)
c.1899G>C (p.Leu633=)
c.*296G>C (n.*296G>C)
c.1722G>C (p.Leu574=)
c.1854G>C (p.Leu618=)
n.330-3470C>G
6g.33440951G>TCA450108308SYNGAP1,SYNGAP1-AS1c.1641G>T (p.Leu547=)
c.1899G>T (p.Leu633=)
c.*296G>T (n.*296G>T)
c.1722G>T (p.Leu574=)
c.1854G>T (p.Leu618=)
n.330-3470C>A
6g.33440952G>ACA363694206SYNGAP1,SYNGAP1-AS1c.1642G>A (p.Ala548Thr)
c.1900G>A (p.Ala634Thr)
c.*297G>A (n.*297G>A)
c.1723G>A (p.Ala575Thr)
c.1855G>A (p.Ala619Thr)
n.330-3471C>T
6g.33440952G>CCA363694209SYNGAP1,SYNGAP1-AS1c.1642G>C (p.Ala548Pro)
c.1900G>C (p.Ala634Pro)
c.*297G>C (n.*297G>C)
c.1723G>C (p.Ala575Pro)
c.1855G>C (p.Ala619Pro)
n.330-3471C>G
6g.33440952G>TCA363694212SYNGAP1,SYNGAP1-AS1c.1642G>T (p.Ala548Ser)
c.1900G>T (p.Ala634Ser)
c.*297G>T (n.*297G>T)
c.1723G>T (p.Ala575Ser)
c.1855G>T (p.Ala619Ser)
n.330-3471C>A
6g.33440953C>ACA363694222SYNGAP1,SYNGAP1-AS1c.1643C>A (p.Ala548Asp)
c.1901C>A (p.Ala634Asp)
c.*298C>A (n.*298C>A)
c.1724C>A (p.Ala575Asp)
c.1856C>A (p.Ala619Asp)
n.330-3472G>T
6g.33440953C>GCA363694218SYNGAP1,SYNGAP1-AS1c.1643C>G (p.Ala548Gly)
c.1901C>G (p.Ala634Gly)
c.*298C>G (n.*298C>G)
c.1724C>G (p.Ala575Gly)
c.1856C>G (p.Ala619Gly)
n.330-3472G>C
6g.33440953C>TCA363694215SYNGAP1,SYNGAP1-AS1c.1643C>T (p.Ala548Val)
c.1901C>T (p.Ala634Val)
c.*298C>T (n.*298C>T)
c.1724C>T (p.Ala575Val)
c.1856C>T (p.Ala619Val)
n.330-3472G>A
6g.33440954delCA2573140242SYNGAP1,SYNGAP1-AS1c.1644del (p.Asn549ThrfsTer15)
c.1902del (p.Asn635ThrfsTer15)
c.*299del (n.*299del)
c.1725del (p.Asn576ThrfsTer15)
c.1857del (p.Asn620ThrfsTer15)
n.330-3472del
 ClinVar dbSNP
6g.33440954C>ACA450108309SYNGAP1,SYNGAP1-AS1c.1644C>A (p.Ala548=)
c.1902C>A (p.Ala634=)
c.*299C>A (n.*299C>A)
c.1725C>A (p.Ala575=)
c.1857C>A (p.Ala619=)
n.330-3473G>T
6g.33440954C=CA1620013579SYNGAP1,SYNGAP1-AS1c.1644C= (p.Ala548=)
c.1902C= (p.Ala634=)
c.*299C= (n.*299C=)
c.1725C= (p.Ala575=)
c.1857C= (p.Ala619=)
n.330-3473G=
6g.33440954C>GCA450108311SYNGAP1,SYNGAP1-AS1c.1644C>G (p.Ala548=)
c.1902C>G (p.Ala634=)
c.*299C>G (n.*299C>G)
c.1725C>G (p.Ala575=)
c.1857C>G (p.Ala619=)
n.330-3473G>C
6g.33440954C>TCA450108310SYNGAP1,SYNGAP1-AS1c.1644C>T (p.Ala548=)
c.1902C>T (p.Ala634=)
c.*299C>T (n.*299C>T)
c.1725C>T (p.Ala575=)
c.1857C>T (p.Ala619=)
n.330-3473G>A
 dbSNP gnomAD v2 gnomAD v4
6g.33440955A>CCA363694231SYNGAP1,SYNGAP1-AS1c.1645A>C (p.Asn549His)
c.1903A>C (p.Asn635His)
c.*300A>C (n.*300A>C)
c.1726A>C (p.Asn576His)
c.1858A>C (p.Asn620His)
n.330-3474T>G
6g.33440955A>GCA363694225SYNGAP1,SYNGAP1-AS1c.1645A>G (p.Asn549Asp)
c.1903A>G (p.Asn635Asp)
c.*300A>G (n.*300A>G)
c.1726A>G (p.Asn576Asp)
c.1858A>G (p.Asn620Asp)
n.330-3474T>C
6g.33440955A>TCA363694228SYNGAP1,SYNGAP1-AS1c.1645A>T (p.Asn549Tyr)
c.1903A>T (p.Asn635Tyr)
c.*300A>T (n.*300A>T)
c.1726A>T (p.Asn576Tyr)
c.1858A>T (p.Asn620Tyr)
n.330-3474T>A
6g.33440956A=CA1620013580SYNGAP1,SYNGAP1-AS1c.1646A= (p.Asn549=)
c.1904A= (p.Asn635=)
c.*301A= (n.*301A=)
c.1727A= (p.Asn576=)
c.1859A= (p.Asn620=)
n.330-3475T=
6g.33440956A>CCA363694234SYNGAP1,SYNGAP1-AS1c.1646A>C (p.Asn549Thr)
c.1904A>C (p.Asn635Thr)
c.*301A>C (n.*301A>C)
c.1727A>C (p.Asn576Thr)
c.1859A>C (p.Asn620Thr)
n.330-3475T>G
6g.33440956A>GCA3758724SYNGAP1,SYNGAP1-AS1c.1646A>G (p.Asn549Ser)
c.1904A>G (p.Asn635Ser)
c.*301A>G (n.*301A>G)
c.1727A>G (p.Asn576Ser)
c.1859A>G (p.Asn620Ser)
n.330-3475T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.33440956A>TCA363694239SYNGAP1,SYNGAP1-AS1c.1646A>T (p.Asn549Ile)
c.1904A>T (p.Asn635Ile)
c.*301A>T (n.*301A>T)
c.1727A>T (p.Asn576Ile)
c.1859A>T (p.Asn620Ile)
n.330-3475T>A
6g.33440957C>ACA363694241SYNGAP1,SYNGAP1-AS1c.1647C>A (p.Asn549Lys)
c.1905C>A (p.Asn635Lys)
c.*302C>A (n.*302C>A)
c.1728C>A (p.Asn576Lys)
c.1860C>A (p.Asn620Lys)
n.330-3476G>T
6g.33440957C>GCA363694244SYNGAP1,SYNGAP1-AS1c.1647C>G (p.Asn549Lys)
c.1905C>G (p.Asn635Lys)
c.*302C>G (n.*302C>G)
c.1728C>G (p.Asn576Lys)
c.1860C>G (p.Asn620Lys)
n.330-3476G>C
6g.33440957C>TCA450108312SYNGAP1,SYNGAP1-AS1c.1647C>T (p.Asn549=)
c.1905C>T (p.Asn635=)
c.*302C>T (n.*302C>T)
c.1728C>T (p.Asn576=)
c.1860C>T (p.Asn620=)
n.330-3476G>A
6g.33440957_33440959delinsCTTCA1620013581SYNGAP1,SYNGAP1-AS1c.1647_1649delinsCTT (p.Asn549=)
c.1905_1907delinsCTT (p.Asn635=)
c.*302_*304delinsCTT (n.*302_*304delinsCTT)
c.1728_1730delinsCTT (p.Asn576=)
c.1860_1862delinsCTT (p.Asn620=)
n.330-3478_330-3476delinsAAG
6g.33440958T>ACA363694249SYNGAP1,SYNGAP1-AS1c.1648T>A (p.Phe550Ile)
c.1906T>A (p.Phe636Ile)
c.*303T>A (n.*303T>A)
c.1729T>A (p.Phe577Ile)
c.1861T>A (p.Phe621Ile)
n.330-3477A>T
6g.33440958T>CCA363694253SYNGAP1,SYNGAP1-AS1c.1648T>C (p.Phe550Leu)
c.1906T>C (p.Phe636Leu)
c.*303T>C (n.*303T>C)
c.1729T>C (p.Phe577Leu)
c.1861T>C (p.Phe621Leu)
n.330-3477A>G
6g.33440958T>GCA363694255SYNGAP1,SYNGAP1-AS1c.1648T>G (p.Phe550Val)
c.1906T>G (p.Phe636Val)
c.*303T>G (n.*303T>G)
c.1729T>G (p.Phe577Val)
c.1861T>G (p.Phe621Val)
n.330-3477A>C
6g.33440960_33440961delCA16044383SYNGAP1,SYNGAP1-AS1c.1650_1651del (p.Ser551GlnfsTer14)
c.1908_1909del (p.Ser637GlnfsTer14)
c.*305_*306del (n.*305_*306del)
c.1731_1732del (p.Ser578GlnfsTer14)
c.1863_1864del (p.Ser622GlnfsTer14)
n.330-3478_330-3477del
 ClinVar dbSNP
6g.33440959T>ACA363694259SYNGAP1,SYNGAP1-AS1c.1649T>A (p.Phe550Tyr)
c.1907T>A (p.Phe636Tyr)
c.*304T>A (n.*304T>A)
c.1730T>A (p.Phe577Tyr)
c.1862T>A (p.Phe621Tyr)
n.330-3478A>T
6g.33440959T>CCA363694261SYNGAP1,SYNGAP1-AS1c.1649T>C (p.Phe550Ser)
c.1907T>C (p.Phe636Ser)
c.*304T>C (n.*304T>C)
c.1730T>C (p.Phe577Ser)
c.1862T>C (p.Phe621Ser)
n.330-3478A>G
6g.33440959T>GCA363694264SYNGAP1,SYNGAP1-AS1c.1649T>G (p.Phe550Cys)
c.1907T>G (p.Phe636Cys)
c.*304T>G (n.*304T>G)
c.1730T>G (p.Phe577Cys)
c.1862T>G (p.Phe621Cys)
n.330-3478A>C
 gnomAD v4
6g.33440960T>ACA363694274SYNGAP1,SYNGAP1-AS1c.1650T>A (p.Phe550Leu)
c.1908T>A (p.Phe636Leu)
c.*305T>A (n.*305T>A)
c.1731T>A (p.Phe577Leu)
c.1863T>A (p.Phe621Leu)
n.330-3479A>T
6g.33440960T>CCA450108313SYNGAP1,SYNGAP1-AS1c.1650T>C (p.Phe550=)
c.1908T>C (p.Phe636=)
c.*305T>C (n.*305T>C)
c.1731T>C (p.Phe577=)
c.1863T>C (p.Phe621=)
n.330-3479A>G
6g.33440960T>GCA363694271SYNGAP1,SYNGAP1-AS1c.1650T>G (p.Phe550Leu)
c.1908T>G (p.Phe636Leu)
c.*305T>G (n.*305T>G)
c.1731T>G (p.Phe577Leu)
c.1863T>G (p.Phe621Leu)
n.330-3479A>C
6g.33440961T>ACA363694275SYNGAP1,SYNGAP1-AS1c.1651T>A (p.Ser551Thr)
c.1909T>A (p.Ser637Thr)
c.*306T>A (n.*306T>A)
c.1732T>A (p.Ser578Thr)
c.1864T>A (p.Ser622Thr)
n.330-3480A>T
6g.33440961T>CCA363694278SYNGAP1,SYNGAP1-AS1c.1651T>C (p.Ser551Pro)
c.1909T>C (p.Ser637Pro)
c.*306T>C (n.*306T>C)
c.1732T>C (p.Ser578Pro)
c.1864T>C (p.Ser622Pro)
n.330-3480A>G
6g.33440961T>GCA363694280SYNGAP1,SYNGAP1-AS1c.1651T>G (p.Ser551Ala)
c.1909T>G (p.Ser637Ala)
c.*306T>G (n.*306T>G)
c.1732T>G (p.Ser578Ala)
c.1864T>G (p.Ser622Ala)
n.330-3480A>C
6g.33440962C>ACA363694282SYNGAP1,SYNGAP1-AS1c.1652C>A (p.Ser551Tyr)
c.1910C>A (p.Ser637Tyr)
c.*307C>A (n.*307C>A)
c.1733C>A (p.Ser578Tyr)
c.1865C>A (p.Ser622Tyr)
n.330-3481G>T
6g.33440962C>GCA363694286SYNGAP1,SYNGAP1-AS1c.1652C>G (p.Ser551Cys)
c.1910C>G (p.Ser637Cys)
c.*307C>G (n.*307C>G)
c.1733C>G (p.Ser578Cys)
c.1865C>G (p.Ser622Cys)
n.330-3481G>C
6g.33440962C>TCA363694288SYNGAP1,SYNGAP1-AS1c.1652C>T (p.Ser551Phe)
c.1910C>T (p.Ser637Phe)
c.*307C>T (n.*307C>T)
c.1733C>T (p.Ser578Phe)
c.1865C>T (p.Ser622Phe)
n.330-3481G>A
6g.33440963C>ACA450108316SYNGAP1,SYNGAP1-AS1c.1653C>A (p.Ser551=)
c.1911C>A (p.Ser637=)
c.*308C>A (n.*308C>A)
c.1734C>A (p.Ser578=)
c.1866C>A (p.Ser622=)
n.330-3482G>T
6g.33440963C>GCA450108314SYNGAP1,SYNGAP1-AS1c.1653C>G (p.Ser551=)
c.1911C>G (p.Ser637=)
c.*308C>G (n.*308C>G)
c.1734C>G (p.Ser578=)
c.1866C>G (p.Ser622=)
n.330-3482G>C
6g.33440963C>TCA450108315SYNGAP1,SYNGAP1-AS1c.1653C>T (p.Ser551=)
c.1911C>T (p.Ser637=)
c.*308C>T (n.*308C>T)
c.1734C>T (p.Ser578=)
c.1866C>T (p.Ser622=)
n.330-3482G>A

Number of alleles fetched