Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.33440868A>C | CA363693600 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440868A>G | CA363693602 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440868A>T | CA363693604 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440869G>A | CA363693608 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440869G>C | CA363693610 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440869G>T | CA363693615 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440870T>A | CA363693618 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440870T>C | CA450108252 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440870T>G | CA363693620 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440871C>A | CA363693623 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440871C= | CA1620013554 | SYNGAP1,SYNGAP1-AS1 | c.1561C= (p.Leu521=) c.1819C= (p.Leu607=) c.*216C= (n.*216C=) c.1642C= (p.Leu548=) c.1774C= (p.Leu592=) n.330-3390G= | |
6 | g.33440871C>G | CA3758716 | SYNGAP1,SYNGAP1-AS1 | c.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 |
6 | g.33440871C>T | CA363693628 | SYNGAP1,SYNGAP1-AS1 | c.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 |
6 | g.33440872T>A | CA363693630 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440872T>C | CA363693632 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440872T>G | CA363693634 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440873C>A | CA450108253 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440873C>G | CA450108254 | SYNGAP1,SYNGAP1-AS1 | c.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 |
6 | g.33440873C>T | CA450108255 | SYNGAP1,SYNGAP1-AS1 | c.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 |
6 | g.33440873_33440875delinsCTT | CA1620013555 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440874T>A | CA363693636 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440874T>C | CA363693638 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440874T>G | CA363693640 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440875_33440876del | CA915944217 | SYNGAP1,SYNGAP1-AS1 | c.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 |
6 | g.33440875T>A | CA363693642 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440875T>C | CA363693645 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440875T>G | CA363693647 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440876T>A | CA363693649 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440876T>C | CA450108256 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440876T>G | CA363693651 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440877G>A | CA363693657 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440877G>C | CA363693662 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440877G>T | CA363693659 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440878G>A | CA363693668 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440878G>C | CA363693669 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440878G>T | CA363693673 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440879G>A | CA450108259 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440879G>C | CA450108258 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440879G>T | CA450108257 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440880C>A | CA3758717 | SYNGAP1,SYNGAP1-AS1 | c.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 |
6 | g.33440880C= | CA1620013556 | SYNGAP1,SYNGAP1-AS1 | c.1570C= (p.Leu524=) c.1828C= (p.Leu610=) c.*225C= (n.*225C=) c.1651C= (p.Leu551=) c.1783C= (p.Leu595=) n.330-3399G= | |
6 | g.33440880C>G | CA3758718 | SYNGAP1,SYNGAP1-AS1 | c.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 |
6 | g.33440880C>T | CA363693691 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440881T>A | CA363693703 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440881T>C | CA363693710 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440881T>G | CA363693713 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440881_33440882dup | CA2695202902 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440882T>A | CA450108260 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440882T>C | CA450108261 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440882T>G | CA450108262 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440883A>C | CA363693721 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440883A>G | CA363693723 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440883A>T | CA363693725 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440884T>A | CA363693731 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440884T>C | CA363693726 | SYNGAP1,SYNGAP1-AS1 | c.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 |
6 | g.33440884T>G | CA363693727 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440884T= | CA1620013557 | SYNGAP1,SYNGAP1-AS1 | c.1574T= (p.Met525=) c.1832T= (p.Met611=) c.*229T= (n.*229T=) c.1655T= (p.Met552=) c.1787T= (p.Met596=) n.330-3403A= | |
6 | g.33440885G>A | CA363693734 | SYNGAP1,SYNGAP1-AS1 | c.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 |
6 | g.33440885G>C | CA363693741 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440885G>T | CA363693748 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440886C>A | CA363693751 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440886C= | CA1620013558 | SYNGAP1,SYNGAP1-AS1 | c.1576C= (p.Gln526=) c.1834C= (p.Gln612=) c.*231C= (n.*231C=) c.1657C= (p.Gln553=) c.1789C= (p.Gln597=) n.330-3405G= | |
6 | g.33440886C>G | CA363693753 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440886C>T | CA363693754 | SYNGAP1,SYNGAP1-AS1 | c.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 |
6 | g.33440887A>C | CA363693759 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440887A>G | CA363693760 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440887A>T | CA363693764 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440888G>A | CA450108263 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440888G>C | CA363693766 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440888G>T | CA363693768 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440889G>A | CA363693776 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440889G>C | CA363693773 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440889G= | CA1620013559 | SYNGAP1,SYNGAP1-AS1 | c.1579G= (p.Glu527=) c.1837G= (p.Glu613=) c.*234G= (n.*234G=) c.1660G= (p.Glu554=) c.1792G= (p.Glu598=) n.330-3408C= | |
6 | g.33440889G>T | CA363693770 | SYNGAP1,SYNGAP1-AS1 | c.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 |
6 | g.33440890A>C | CA363693779 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440890A>G | CA363693777 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440890A>T | CA363693778 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440891G>A | CA450108264 | SYNGAP1,SYNGAP1-AS1 | c.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 |
6 | g.33440891G>C | CA363693782 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440891G>T | CA363693784 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440892T>A | CA363693788 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440892T>C | CA363693791 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440892T>G | CA363693794 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440893A>C | CA363693800 | SYNGAP1,SYNGAP1-AS1 | c.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 |
6 | g.33440893A>G | CA363693803 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440893A>T | CA363693808 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440894C>A | CA363693812 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440894C= | CA1620013560 | SYNGAP1,SYNGAP1-AS1 | c.1584C= (p.Tyr528=) c.1842C= (p.Tyr614=) c.*239C= (n.*239C=) c.1665C= (p.Tyr555=) c.1797C= (p.Tyr599=) n.330-3413G= | |
6 | g.33440894C>G | CA363693814 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440894C>T | CA450108265 | SYNGAP1,SYNGAP1-AS1 | c.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 |
6 | g.33440895C>A | CA363693821 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440895C>G | CA363693829 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440895C>T | CA363693817 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440896C>A | CA363693836 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440896C>G | CA363693837 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440896C>T | CA363693840 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440897A>C | CA450108266 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440897A>G | CA450108267 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440897A>T | CA450108268 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440898G>A | CA363693844 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440898G>C | CA363693847 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440898G>T | CA363693851 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440899A>C | CA363693854 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440899A>G | CA363693868 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440899A>T | CA363693857 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440900T>A | CA363693871 | SYNGAP1,SYNGAP1-AS1 | c.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 |
6 | g.33440900T>C | CA450108269 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440900T>G | CA363693874 | SYNGAP1,SYNGAP1-AS1 | c.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 |
6 | g.33440901G>A | CA363693878 | SYNGAP1,SYNGAP1-AS1 | c.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 |
6 | g.33440901G>C | CA363693888 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440901G= | CA1620013561 | SYNGAP1,SYNGAP1-AS1 | c.1591G= (p.Glu531=) c.1849G= (p.Glu617=) c.*246G= (n.*246G=) c.1672G= (p.Glu558=) c.1804G= (p.Glu602=) n.330-3420C= | |
6 | g.33440901G>T | CA363693891 | SYNGAP1,SYNGAP1-AS1 | c.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 |
6 | g.33440902A>C | CA363693898 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440902A>G | CA363693901 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440902A>T | CA363693896 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440903G>A | CA155633 | SYNGAP1,SYNGAP1-AS1 | c.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 |
6 | g.33440903G>C | CA363693909 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440903G= | CA1620013562 | SYNGAP1,SYNGAP1-AS1 | c.1593G= (p.Glu531=) c.1851G= (p.Glu617=) c.*248G= (n.*248G=) c.1674G= (p.Glu558=) c.1806G= (p.Glu602=) n.330-3422C= | |
6 | g.33440903G>T | CA363693906 | SYNGAP1,SYNGAP1-AS1 | c.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 |
6 | g.33440904C>A | CA3758719 | SYNGAP1,SYNGAP1-AS1 | c.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 |
6 | g.33440904C= | CA1620013563 | SYNGAP1,SYNGAP1-AS1 | c.1594C= (p.Gln532=) c.1852C= (p.Gln618=) c.*249C= (n.*249C=) c.1675C= (p.Gln559=) c.1807C= (p.Gln603=) n.330-3423G= | |
6 | g.33440904C>G | CA363693918 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440904C>T | CA363693919 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440905A>C | CA363693920 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440905A>G | CA363693921 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440905A>T | CA363693922 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440906G>A | CA450108270 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440906G>C | CA363693924 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440906G>T | CA363693926 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440907A>C | CA363693928 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440907A>G | CA363693930 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440907A>T | CA363693933 | SYNGAP1,SYNGAP1-AS1 | c.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 |
6 | g.33440908C>A | CA363693940 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440908C>G | CA363693935 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440908C>T | CA363693937 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440909C>A | CA450108271 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440909C>G | CA450108272 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440909C>T | CA450108273 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440910T>A | CA363693942 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440910T>C | CA363693944 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440910T>G | CA363693947 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440911C>A | CA363693949 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440911C>G | CA363693951 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440911C>T | CA363693953 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440912A>C | CA450108274 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440912A>G | CA450108275 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440912A>T | CA450108276 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440913C>A | CA450108277 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440913C= | CA1620013564 | SYNGAP1,SYNGAP1-AS1 | c.1603C= (p.Arg535=) c.1861C= (p.Arg621=) c.*258C= (n.*258C=) c.1684C= (p.Arg562=) c.1816C= (p.Arg606=) n.330-3432G= | |
6 | g.33440913C>G | CA363693956 | SYNGAP1,SYNGAP1-AS1 | c.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 |
6 | g.33440913C>T | CA16612033 | SYNGAP1,SYNGAP1-AS1 | c.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 |
6 | g.33440914G>A | CA3758720 | SYNGAP1,SYNGAP1-AS1 | c.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 |
6 | g.33440914G>C | CA363693969 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440914G= | CA1620013565 | SYNGAP1,SYNGAP1-AS1 | c.1604G= (p.Arg535=) c.1862G= (p.Arg621=) c.*259G= (n.*259G=) c.1685G= (p.Arg562=) c.1817G= (p.Arg606=) n.330-3433C= | |
6 | g.33440914G>T | CA363693972 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440915A= | CA1620013566 | SYNGAP1,SYNGAP1-AS1 | c.1605A= (p.Arg535=) c.1863A= (p.Arg621=) c.*260A= (n.*260A=) c.1686A= (p.Arg562=) c.1818A= (p.Arg606=) n.330-3434T= | |
6 | g.33440915A>C | CA450108280 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440915A>G | CA450108279 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440915A>T | CA450108278 | SYNGAP1,SYNGAP1-AS1 | c.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 |
6 | g.33440915_33440921delinsAACCCTC | CA1620013567 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440916A>C | CA363693977 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440916A>G | CA363693982 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440916A>T | CA363693975 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440923_33440928del | CA645372819 | SYNGAP1,SYNGAP1-AS1 | c.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 |
6 | g.33440917C>A | CA363693988 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440917C>G | CA363693994 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440917C>T | CA363693999 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440918C>A | CA450108281 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440918C= | CA1620013568 | SYNGAP1,SYNGAP1-AS1 | c.1608C= (p.Thr536=) c.1866C= (p.Thr622=) c.*263C= (n.*263C=) c.1689C= (p.Thr563=) c.1821C= (p.Thr607=) n.330-3437G= | |
6 | g.33440918C>G | CA450108282 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440918C>T | CA450108283 | SYNGAP1,SYNGAP1-AS1 | c.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 |
6 | g.33440919C>A | CA363694012 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440919C>G | CA363694013 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440919C>T | CA363694015 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440920T>A | CA363694017 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440920T>C | CA363694019 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440920T>G | CA363694020 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440921C>A | CA450108284 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440921C>G | CA450108285 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440921C>T | CA450108286 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440922A>C | CA363694021 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440922A>G | CA363694025 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440922A>T | CA363694027 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440923C>A | CA363694034 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440923C>G | CA363694036 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440923C>T | CA363694032 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440924C>A | CA450108287 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440924C= | CA1620013569 | SYNGAP1,SYNGAP1-AS1 | c.1614C= (p.Thr538=) c.1872C= (p.Thr624=) c.*269C= (n.*269C=) c.1695C= (p.Thr565=) c.1827C= (p.Thr609=) n.330-3443G= | |
6 | g.33440924C>G | CA450108288 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440924C>T | CA450108289 | SYNGAP1,SYNGAP1-AS1 | c.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 |
6 | g.33440925C>A | CA363694037 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440925C>G | CA363694038 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440925C>T | CA363694041 | SYNGAP1,SYNGAP1-AS1 | c.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 |
6 | g.33440926T>A | CA363694042 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440926T>C | CA363694043 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440926T>G | CA363694045 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440927C>A | CA450108290 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440927C>G | CA450108291 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440927C>T | CA450108292 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440928A>C | CA363694046 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440928A>G | CA363694049 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440928A>T | CA363694047 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440929T>A | CA363694051 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440929T>C | CA363694054 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440929T>G | CA363694060 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440930T>A | CA450108293 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440930T>C | CA450108294 | SYNGAP1,SYNGAP1-AS1 | c.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 |
6 | g.33440930T>G | CA363694070 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440930T= | CA1620013570 | SYNGAP1,SYNGAP1-AS1 | c.1620T= (p.Ile540=) c.1878T= (p.Ile626=) c.*275T= (n.*275T=) c.1701T= (p.Ile567=) c.1833T= (p.Ile611=) n.330-3449A= | |
6 | g.33440931G>A | CA363694073 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440931G>C | CA363694072 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440931G>T | CA363694071 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440932C>A | CA363694076 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440932C>G | CA363694082 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440932C>T | CA363694080 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440933C>A | CA450108295 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440933C>G | CA450108296 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440933C>T | CA450108297 | SYNGAP1,SYNGAP1-AS1 | c.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 |
6 | g.33440934A= | CA1620013571 | SYNGAP1,SYNGAP1-AS1 | c.1624A= (p.Lys542=) c.1882A= (p.Lys628=) c.*279A= (n.*279A=) c.1705A= (p.Lys569=) c.1837A= (p.Lys613=) n.330-3453T= | |
6 | g.33440934A>C | CA363694085 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440934A>G | CA363694090 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440934A>T | CA363694087 | SYNGAP1,SYNGAP1-AS1 | c.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 |
6 | g.33440935A>C | CA363694096 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440935A>G | CA363694103 | SYNGAP1,SYNGAP1-AS1 | c.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 |
6 | g.33440935A>T | CA363694100 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440936G>A | CA3758721 | SYNGAP1,SYNGAP1-AS1 | c.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 |
6 | g.33440936G>C | CA363694113 | SYNGAP1,SYNGAP1-AS1 | c.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 |
6 | g.33440936G= | CA1620013572 | SYNGAP1,SYNGAP1-AS1 | c.1626G= (p.Lys542=) c.1884G= (p.Lys628=) c.*281G= (n.*281G=) c.1707G= (p.Lys569=) c.1839G= (p.Lys613=) n.330-3455C= | |
6 | g.33440936G>T | CA363694109 | SYNGAP1,SYNGAP1-AS1 | c.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 |
6 | g.33440937G>A | CA137098920 | SYNGAP1,SYNGAP1-AS1 | c.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 |
6 | g.33440937G>C | CA363694128 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440937G= | CA1620013573 | SYNGAP1,SYNGAP1-AS1 | c.1627G= (p.Val543=) c.1885G= (p.Val629=) c.*282G= (n.*282G=) c.1708G= (p.Val570=) c.1840G= (p.Val614=) n.330-3456C= | |
6 | g.33440937G>T | CA363694127 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440938T>A | CA363694131 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440938T>C | CA363694135 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440938T>G | CA363694133 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440939C>A | CA450108298 | SYNGAP1,SYNGAP1-AS1 | c.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 |
6 | g.33440939C>G | CA450108299 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440939C>T | CA450108300 | SYNGAP1,SYNGAP1-AS1 | c.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 |
6 | g.33440940A= | CA1620013574 | SYNGAP1,SYNGAP1-AS1 | c.1630A= (p.Ile544=) c.1888A= (p.Ile630=) c.*285A= (n.*285A=) c.1711A= (p.Ile571=) c.1843A= (p.Ile615=) n.330-3459T= | |
6 | g.33440940A>C | CA363694138 | SYNGAP1,SYNGAP1-AS1 | c.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 |
6 | g.33440940A>G | CA3758722 | SYNGAP1,SYNGAP1-AS1 | c.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 |
6 | g.33440940A>T | CA363694139 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440941T>A | CA363694141 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440941T>C | CA363694146 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440941T>G | CA363694143 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440942C>A | CA450108301 | SYNGAP1,SYNGAP1-AS1 | c.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 |
6 | g.33440942C>G | CA363694147 | SYNGAP1,SYNGAP1-AS1 | c.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 |
6 | g.33440942C>T | CA450108302 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440943C>A | CA363694151 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440943C= | CA1620013575 | SYNGAP1,SYNGAP1-AS1 | c.1633C= (p.Gln545=) c.1891C= (p.Gln631=) c.*288C= (n.*288C=) c.1714C= (p.Gln572=) c.1846C= (p.Gln616=) n.330-3462G= | |
6 | g.33440943C>G | CA363694153 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440943C>T | CA363694158 | SYNGAP1,SYNGAP1-AS1 | c.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 |
6 | g.33440944A>C | CA363694160 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440944A>G | CA363694162 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440944A>T | CA363694164 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440945G>A | CA450108303 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440945G>C | CA363694166 | SYNGAP1,SYNGAP1-AS1 | c.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 |
6 | g.33440945G>T | CA363694168 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440946A>C | CA363694170 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440946A>G | CA363694172 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440946A>T | CA363694174 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440947A>C | CA363694177 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440947A>G | CA363694181 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440947A>T | CA363694180 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440948C>A | CA3758723 | SYNGAP1,SYNGAP1-AS1 | c.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 |
6 | g.33440948C= | CA1620013576 | SYNGAP1,SYNGAP1-AS1 | c.1638C= (p.Asn546=) c.1896C= (p.Asn632=) c.*293C= (n.*293C=) c.1719C= (p.Asn573=) c.1851C= (p.Asn617=) n.330-3467G= | |
6 | g.33440948C>G | CA363694185 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440948C>T | CA450108304 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440949C>A | CA363694188 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440949C= | CA1620013577 | SYNGAP1,SYNGAP1-AS1 | c.1639C= (p.Leu547=) c.1897C= (p.Leu633=) c.*294C= (n.*294C=) c.1720C= (p.Leu574=) c.1852C= (p.Leu618=) n.330-3468G= | |
6 | g.33440949C>G | CA363694190 | SYNGAP1,SYNGAP1-AS1 | c.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 |
6 | g.33440949C>T | CA450108305 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440950T>A | CA363694198 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440950T>C | CA363694200 | SYNGAP1,SYNGAP1-AS1 | c.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 |
6 | g.33440950T>G | CA363694203 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440950T= | CA1620013578 | SYNGAP1,SYNGAP1-AS1 | c.1640T= (p.Leu547=) c.1898T= (p.Leu633=) c.*295T= (n.*295T=) c.1721T= (p.Leu574=) c.1853T= (p.Leu618=) n.330-3469A= | |
6 | g.33440951G>A | CA450108306 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440951G>C | CA450108307 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440951G>T | CA450108308 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440952G>A | CA363694206 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440952G>C | CA363694209 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440952G>T | CA363694212 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440953C>A | CA363694222 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440953C>G | CA363694218 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440953C>T | CA363694215 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440954del | CA2573140242 | SYNGAP1,SYNGAP1-AS1 | c.1644del (p.Asn549ThrfsTer15) c.1902del (p.Asn635ThrfsTer15) c.*299del (n.*299del) c.1725del (p.Asn576ThrfsTer15) c.1857del (p.Asn620ThrfsTer15) n.330-3472del | ClinVar dbSNP |
6 | g.33440954C>A | CA450108309 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440954C= | CA1620013579 | SYNGAP1,SYNGAP1-AS1 | c.1644C= (p.Ala548=) c.1902C= (p.Ala634=) c.*299C= (n.*299C=) c.1725C= (p.Ala575=) c.1857C= (p.Ala619=) n.330-3473G= | |
6 | g.33440954C>G | CA450108311 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440954C>T | CA450108310 | SYNGAP1,SYNGAP1-AS1 | c.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 |
6 | g.33440955A>C | CA363694231 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440955A>G | CA363694225 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440955A>T | CA363694228 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440956A= | CA1620013580 | SYNGAP1,SYNGAP1-AS1 | c.1646A= (p.Asn549=) c.1904A= (p.Asn635=) c.*301A= (n.*301A=) c.1727A= (p.Asn576=) c.1859A= (p.Asn620=) n.330-3475T= | |
6 | g.33440956A>C | CA363694234 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440956A>G | CA3758724 | SYNGAP1,SYNGAP1-AS1 | c.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 |
6 | g.33440956A>T | CA363694239 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440957C>A | CA363694241 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440957C>G | CA363694244 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440957C>T | CA450108312 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440957_33440959delinsCTT | CA1620013581 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440958T>A | CA363694249 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440958T>C | CA363694253 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440958T>G | CA363694255 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440960_33440961del | CA16044383 | SYNGAP1,SYNGAP1-AS1 | c.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 |
6 | g.33440959T>A | CA363694259 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440959T>C | CA363694261 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440959T>G | CA363694264 | SYNGAP1,SYNGAP1-AS1 | c.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 |
6 | g.33440960T>A | CA363694274 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440960T>C | CA450108313 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440960T>G | CA363694271 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440961T>A | CA363694275 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440961T>C | CA363694278 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440961T>G | CA363694280 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440962C>A | CA363694282 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440962C>G | CA363694286 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440962C>T | CA363694288 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440963C>A | CA450108316 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440963C>G | CA450108314 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440963C>T | CA450108315 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440964A= | CA1620013582 | SYNGAP1,SYNGAP1-AS1 | c.1654A= (p.Lys552=) c.1912A= (p.Lys638=) c.*309A= (n.*309A=) c.1735A= (p.Lys579=) c.1867A= (p.Lys623=) n.330-3483T= | |
6 | g.33440964A>C | CA363694289 | SYNGAP1,SYNGAP1-AS1 | c.1654A>C (p.Lys552Gln) c.1912A>C (p.Lys638Gln) c.*309A>C (n.*309A>C) c.1735A>C (p.Lys579Gln) c.1867A>C (p.Lys623Gln) n.330-3483T>G | |
6 | g.33440964A>G | CA363694291 | SYNGAP1,SYNGAP1-AS1 | c.1654A>G (p.Lys552Glu) c.1912A>G (p.Lys638Glu) c.*309A>G (n.*309A>G) c.1735A>G (p.Lys579Glu) c.1867A>G (p.Lys623Glu) n.330-3483T>C | |
6 | g.33440964A>T | CA363694294 | SYNGAP1,SYNGAP1-AS1 | c.1654A>T (p.Lys552Ter) c.1912A>T (p.Lys638Ter) c.*309A>T (n.*309A>T) c.1735A>T (p.Lys579Ter) c.1867A>T (p.Lys623Ter) n.330-3483T>A | dbSNP |
6 | g.33440965A>C | CA363694298 | SYNGAP1,SYNGAP1-AS1 | c.1655A>C (p.Lys552Thr) c.1913A>C (p.Lys638Thr) c.*310A>C (n.*310A>C) c.1736A>C (p.Lys579Thr) c.1868A>C (p.Lys623Thr) n.330-3484T>G | |
6 | g.33440965A>G | CA363694302 | SYNGAP1,SYNGAP1-AS1 | c.1655A>G (p.Lys552Arg) c.1913A>G (p.Lys638Arg) c.*310A>G (n.*310A>G) c.1736A>G (p.Lys579Arg) c.1868A>G (p.Lys623Arg) n.330-3484T>C | ClinVar |
6 | g.33440965A>T | CA363694306 | SYNGAP1,SYNGAP1-AS1 | c.1655A>T (p.Lys552Met) c.1913A>T (p.Lys638Met) c.*310A>T (n.*310A>T) c.1736A>T (p.Lys579Met) c.1868A>T (p.Lys623Met) n.330-3484T>A | |
6 | g.33440967_33440970del | CA2573140243 | SYNGAP1,SYNGAP1-AS1 | c.1655+2_1655+5del c.1913+2_1913+5del c.*310+2_*310+5del c.1736+2_1736+5del c.1868+2_1868+5del n.330-3487_330-3484del | ClinVar dbSNP |
6 | g.33440966G>A | CA363694316 | SYNGAP1,SYNGAP1-AS1 | c.1655+1G>A (n.1655+1G>A) c.1913+1G>A (n.1913+1G>A) c.*310+1G>A (n.*310+1G>A) c.1736+1G>A (n.1736+1G>A) c.1868+1G>A (n.1868+1G>A) n.330-3485C>T | ClinVar dbSNP |
6 | g.33440966G>C | CA363694318 | SYNGAP1,SYNGAP1-AS1 | c.1655+1G>C (n.1655+1G>C) c.1913+1G>C (n.1913+1G>C) c.*310+1G>C (n.*310+1G>C) c.1736+1G>C (n.1736+1G>C) c.1868+1G>C (n.1868+1G>C) n.330-3485C>G | |
6 | g.33440966G>T | CA363694310 | SYNGAP1,SYNGAP1-AS1 | c.1655+1G>T (n.1655+1G>T) c.1913+1G>T (n.1913+1G>T) c.*310+1G>T (n.*310+1G>T) c.1736+1G>T (n.1736+1G>T) c.1868+1G>T (n.1868+1G>T) n.330-3485C>A | |
6 | g.33440967T>A | CA363694322 | SYNGAP1,SYNGAP1-AS1 | c.1655+2T>A (n.1655+2T>A) c.1913+2T>A (n.1913+2T>A) c.*310+2T>A (n.*310+2T>A) c.1736+2T>A (n.1736+2T>A) c.1868+2T>A (n.1868+2T>A) n.330-3486A>T | |
6 | g.33440967T>C | CA363694326 | SYNGAP1,SYNGAP1-AS1 | c.1655+2T>C (n.1655+2T>C) c.1913+2T>C (n.1913+2T>C) c.*310+2T>C (n.*310+2T>C) c.1736+2T>C (n.1736+2T>C) c.1868+2T>C (n.1868+2T>C) n.330-3486A>G | |
6 | g.33440967T>G | CA363694325 | SYNGAP1,SYNGAP1-AS1 | c.1655+2T>G (n.1655+2T>G) c.1913+2T>G (n.1913+2T>G) c.*310+2T>G (n.*310+2T>G) c.1736+2T>G (n.1736+2T>G) c.1868+2T>G (n.1868+2T>G) n.330-3486A>C | ClinVar dbSNP |