Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.33440770G>A | CA363692758 | SYNGAP1,SYNGAP1-AS1 | c.1460G>A (p.Arg487Gln) c.1718G>A (p.Arg573Gln) c.*115G>A (n.*115G>A) c.1541G>A (p.Arg514Gln) c.1673G>A (p.Arg558Gln) n.330-3289C>T | ClinVar dbSNP |
6 | g.33440770G>C | CA363692762 | SYNGAP1,SYNGAP1-AS1 | c.1460G>C (p.Arg487Pro) c.1718G>C (p.Arg573Pro) c.*115G>C (n.*115G>C) c.1541G>C (p.Arg514Pro) c.1673G>C (p.Arg558Pro) n.330-3289C>G | |
6 | g.33440770G= | CA1620013509 | SYNGAP1,SYNGAP1-AS1 | c.1460G= (p.Arg487=) c.1718G= (p.Arg573=) c.*115G= (n.*115G=) c.1541G= (p.Arg514=) c.1673G= (p.Arg558=) n.330-3289C= | |
6 | g.33440770G>T | CA363692764 | SYNGAP1,SYNGAP1-AS1 | c.1460G>T (p.Arg487Leu) c.1718G>T (p.Arg573Leu) c.*115G>T (n.*115G>T) c.1541G>T (p.Arg514Leu) c.1673G>T (p.Arg558Leu) n.330-3289C>A | ClinVar dbSNP |
6 | g.33440771G>A | CA450107863 | SYNGAP1,SYNGAP1-AS1 | c.1461G>A (p.Arg487=) c.1719G>A (p.Arg573=) c.*116G>A (n.*116G>A) c.1542G>A (p.Arg514=) c.1674G>A (p.Arg558=) n.330-3290C>T | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
6 | g.33440771G>C | CA137098892 | SYNGAP1,SYNGAP1-AS1 | c.1461G>C (p.Arg487=) c.1719G>C (p.Arg573=) c.*116G>C (n.*116G>C) c.1542G>C (p.Arg514=) c.1674G>C (p.Arg558=) n.330-3290C>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.33440771G= | CA1620013510 | SYNGAP1,SYNGAP1-AS1 | c.1461G= (p.Arg487=) c.1719G= (p.Arg573=) c.*116G= (n.*116G=) c.1542G= (p.Arg514=) c.1674G= (p.Arg558=) n.330-3290C= | |
6 | g.33440771G>T | CA450107864 | SYNGAP1,SYNGAP1-AS1 | c.1461G>T (p.Arg487=) c.1719G>T (p.Arg573=) c.*116G>T (n.*116G>T) c.1542G>T (p.Arg514=) c.1674G>T (p.Arg558=) n.330-3290C>A | |
6 | g.33440778_33440782dup | CA2695202895 | SYNGAP1,SYNGAP1-AS1 | c.1468_1472dup (p.Glu492AlafsTer?) c.1726_1730dup (p.Glu578AlafsTer?) c.*123_*127dup (n.*123_*127dup) c.1549_1553dup (p.Glu519AlafsTer?) c.1681_1685dup (p.Glu563AlafsTer?) n.330-3294_330-3290dup | |
6 | g.33440772C>A | CA363692767 | SYNGAP1,SYNGAP1-AS1 | c.1462C>A (p.Leu488Met) c.1720C>A (p.Leu574Met) c.*117C>A (n.*117C>A) c.1543C>A (p.Leu515Met) c.1675C>A (p.Leu559Met) n.330-3291G>T | |
6 | g.33440772C>G | CA363692769 | SYNGAP1,SYNGAP1-AS1 | c.1462C>G (p.Leu488Val) c.1720C>G (p.Leu574Val) c.*117C>G (n.*117C>G) c.1543C>G (p.Leu515Val) c.1675C>G (p.Leu559Val) n.330-3291G>C | dbSNP |
6 | g.33440772C>T | CA450107868 | SYNGAP1,SYNGAP1-AS1 | c.1462C>T (p.Leu488=) c.1720C>T (p.Leu574=) c.*117C>T (n.*117C>T) c.1543C>T (p.Leu515=) c.1675C>T (p.Leu559=) n.330-3291G>A | |
6 | g.33440772_33440773delinsCT | CA1620013511 | SYNGAP1,SYNGAP1-AS1 | c.1462_1463delinsCT (p.Leu488=) c.1720_1721delinsCT (p.Leu574=) c.*117_*118delinsCT (n.*117_*118delinsCT) c.1543_1544delinsCT (p.Leu515=) c.1675_1676delinsCT (p.Leu559=) n.330-3292_330-3291delinsAG | |
6 | g.33440773del | CA915944216 | SYNGAP1,SYNGAP1-AS1 | c.1463del (p.Leu488ArgfsTer?) c.1721del (p.Leu574ArgfsTer?) c.*118del (n.*118del) c.1544del (p.Leu515ArgfsTer?) c.1676del (p.Leu559ArgfsTer?) n.330-3292del | ClinVar dbSNP |
6 | g.33440773T>A | CA363692775 | SYNGAP1,SYNGAP1-AS1 | c.1463T>A (p.Leu488Gln) c.1721T>A (p.Leu574Gln) c.*118T>A (n.*118T>A) c.1544T>A (p.Leu515Gln) c.1676T>A (p.Leu559Gln) n.330-3292A>T | |
6 | g.33440773T>C | CA363692777 | SYNGAP1,SYNGAP1-AS1 | c.1463T>C (p.Leu488Pro) c.1721T>C (p.Leu574Pro) c.*118T>C (n.*118T>C) c.1544T>C (p.Leu515Pro) c.1676T>C (p.Leu559Pro) n.330-3292A>G | gnomAD v4 |
6 | g.33440773T>G | CA363692782 | SYNGAP1,SYNGAP1-AS1 | c.1463T>G (p.Leu488Arg) c.1721T>G (p.Leu574Arg) c.*118T>G (n.*118T>G) c.1544T>G (p.Leu515Arg) c.1676T>G (p.Leu559Arg) n.330-3292A>C | |
6 | g.33440774G>A | CA450107869 | SYNGAP1,SYNGAP1-AS1 | c.1464G>A (p.Leu488=) c.1722G>A (p.Leu574=) c.*119G>A (n.*119G>A) c.1545G>A (p.Leu515=) c.1677G>A (p.Leu559=) n.330-3293C>T | |
6 | g.33440774G>C | CA450107870 | SYNGAP1,SYNGAP1-AS1 | c.1464G>C (p.Leu488=) c.1722G>C (p.Leu574=) c.*119G>C (n.*119G>C) c.1545G>C (p.Leu515=) c.1677G>C (p.Leu559=) n.330-3293C>G | |
6 | g.33440774G>T | CA450107871 | SYNGAP1,SYNGAP1-AS1 | c.1464G>T (p.Leu488=) c.1722G>T (p.Leu574=) c.*119G>T (n.*119G>T) c.1545G>T (p.Leu515=) c.1677G>T (p.Leu559=) n.330-3293C>A | gnomAD v4 |
6 | g.33440775C>A | CA363692787 | SYNGAP1,SYNGAP1-AS1 | c.1465C>A (p.Arg489Ser) c.1723C>A (p.Arg575Ser) c.*120C>A (n.*120C>A) c.1546C>A (p.Arg516Ser) c.1678C>A (p.Arg560Ser) n.330-3294G>T | |
6 | g.33440775C= | CA1620013512 | SYNGAP1,SYNGAP1-AS1 | c.1465C= (p.Arg489=) c.1723C= (p.Arg575=) c.*120C= (n.*120C=) c.1546C= (p.Arg516=) c.1678C= (p.Arg560=) n.330-3294G= | |
6 | g.33440775C>G | CA363692789 | SYNGAP1,SYNGAP1-AS1 | c.1465C>G (p.Arg489Gly) c.1723C>G (p.Arg575Gly) c.*120C>G (n.*120C>G) c.1546C>G (p.Arg516Gly) c.1678C>G (p.Arg560Gly) n.330-3294G>C | |
6 | g.33440775C>T | CA3758701 | SYNGAP1,SYNGAP1-AS1 | c.1465C>T (p.Arg489Cys) c.1723C>T (p.Arg575Cys) c.*120C>T (n.*120C>T) c.1546C>T (p.Arg516Cys) c.1678C>T (p.Arg560Cys) n.330-3294G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.33440776G>A | CA137098895 | SYNGAP1,SYNGAP1-AS1 | c.1466G>A (p.Arg489His) c.1724G>A (p.Arg575His) c.*121G>A (n.*121G>A) c.1547G>A (p.Arg516His) c.1679G>A (p.Arg560His) n.330-3295C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.33440776G>C | CA363692798 | SYNGAP1,SYNGAP1-AS1 | c.1466G>C (p.Arg489Pro) c.1724G>C (p.Arg575Pro) c.*121G>C (n.*121G>C) c.1547G>C (p.Arg516Pro) c.1679G>C (p.Arg560Pro) n.330-3295C>G | |
6 | g.33440776G= | CA1620013513 | SYNGAP1,SYNGAP1-AS1 | c.1466G= (p.Arg489=) c.1724G= (p.Arg575=) c.*121G= (n.*121G=) c.1547G= (p.Arg516=) c.1679G= (p.Arg560=) n.330-3295C= | |
6 | g.33440776G>T | CA363692796 | SYNGAP1,SYNGAP1-AS1 | c.1466G>T (p.Arg489Leu) c.1724G>T (p.Arg575Leu) c.*121G>T (n.*121G>T) c.1547G>T (p.Arg516Leu) c.1679G>T (p.Arg560Leu) n.330-3295C>A | |
6 | g.33440777C>A | CA450107884 | SYNGAP1,SYNGAP1-AS1 | c.1467C>A (p.Arg489=) c.1725C>A (p.Arg575=) c.*122C>A (n.*122C>A) c.1548C>A (p.Arg516=) c.1680C>A (p.Arg560=) n.330-3296G>T | dbSNP gnomAD v2 |
6 | g.33440777C= | CA1620013514 | SYNGAP1,SYNGAP1-AS1 | c.1467C= (p.Arg489=) c.1725C= (p.Arg575=) c.*122C= (n.*122C=) c.1548C= (p.Arg516=) c.1680C= (p.Arg560=) n.330-3296G= | |
6 | g.33440777C>G | CA450107887 | SYNGAP1,SYNGAP1-AS1 | c.1467C>G (p.Arg489=) c.1725C>G (p.Arg575=) c.*122C>G (n.*122C>G) c.1548C>G (p.Arg516=) c.1680C>G (p.Arg560=) n.330-3296G>C | gnomAD v4 |
6 | g.33440777C>T | CA450107890 | SYNGAP1,SYNGAP1-AS1 | c.1467C>T (p.Arg489=) c.1725C>T (p.Arg575=) c.*122C>T (n.*122C>T) c.1548C>T (p.Arg516=) c.1680C>T (p.Arg560=) n.330-3296G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
6 | g.33440778T>A | CA363692803 | SYNGAP1,SYNGAP1-AS1 | c.1468T>A (p.Cys490Ser) c.1726T>A (p.Cys576Ser) c.*123T>A (n.*123T>A) c.1549T>A (p.Cys517Ser) c.1681T>A (p.Cys561Ser) n.330-3297A>T | |
6 | g.33440778T>C | CA363692805 | SYNGAP1,SYNGAP1-AS1 | c.1468T>C (p.Cys490Arg) c.1726T>C (p.Cys576Arg) c.*123T>C (n.*123T>C) c.1549T>C (p.Cys517Arg) c.1681T>C (p.Cys561Arg) n.330-3297A>G | ClinVar |
6 | g.33440778T>G | CA363692807 | SYNGAP1,SYNGAP1-AS1 | c.1468T>G (p.Cys490Gly) c.1726T>G (p.Cys576Gly) c.*123T>G (n.*123T>G) c.1549T>G (p.Cys517Gly) c.1681T>G (p.Cys561Gly) n.330-3297A>C | |
6 | g.33440779G>A | CA363692811 | SYNGAP1,SYNGAP1-AS1 | c.1469G>A (p.Cys490Tyr) c.1727G>A (p.Cys576Tyr) c.*124G>A (n.*124G>A) c.1550G>A (p.Cys517Tyr) c.1682G>A (p.Cys561Tyr) n.330-3298C>T | |
6 | g.33440779G>C | CA363692815 | SYNGAP1,SYNGAP1-AS1 | c.1469G>C (p.Cys490Ser) c.1727G>C (p.Cys576Ser) c.*124G>C (n.*124G>C) c.1550G>C (p.Cys517Ser) c.1682G>C (p.Cys561Ser) n.330-3298C>G | |
6 | g.33440779G>T | CA363692818 | SYNGAP1,SYNGAP1-AS1 | c.1469G>T (p.Cys490Phe) c.1727G>T (p.Cys576Phe) c.*124G>T (n.*124G>T) c.1550G>T (p.Cys517Phe) c.1682G>T (p.Cys561Phe) n.330-3298C>A | |
6 | g.33440780C>A | CA363692822 | SYNGAP1,SYNGAP1-AS1 | c.1470C>A (p.Cys490Ter) c.1728C>A (p.Cys576Ter) c.*125C>A (n.*125C>A) c.1551C>A (p.Cys517Ter) c.1683C>A (p.Cys561Ter) n.330-3299G>T | ClinVar dbSNP |
6 | g.33440780C= | CA1620013515 | SYNGAP1,SYNGAP1-AS1 | c.1470C= (p.Cys490=) c.1728C= (p.Cys576=) c.*125C= (n.*125C=) c.1551C= (p.Cys517=) c.1683C= (p.Cys561=) n.330-3299G= | |
6 | g.33440780C>G | CA363692824 | SYNGAP1,SYNGAP1-AS1 | c.1470C>G (p.Cys490Trp) c.1728C>G (p.Cys576Trp) c.*125C>G (n.*125C>G) c.1551C>G (p.Cys517Trp) c.1683C>G (p.Cys561Trp) n.330-3299G>C | |
6 | g.33440780C>T | CA3758702 | SYNGAP1,SYNGAP1-AS1 | c.1470C>T (p.Cys490=) c.1728C>T (p.Cys576=) c.*125C>T (n.*125C>T) c.1551C>T (p.Cys517=) c.1683C>T (p.Cys561=) n.330-3299G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.33440781G>A | CA3758703 | SYNGAP1,SYNGAP1-AS1 | c.1471G>A (p.Ala491Thr) c.1729G>A (p.Ala577Thr) c.*126G>A (n.*126G>A) c.1552G>A (p.Ala518Thr) c.1684G>A (p.Ala562Thr) n.330-3300C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.33440781G>C | CA363692845 | SYNGAP1,SYNGAP1-AS1 | c.1471G>C (p.Ala491Pro) c.1729G>C (p.Ala577Pro) c.*126G>C (n.*126G>C) c.1552G>C (p.Ala518Pro) c.1684G>C (p.Ala562Pro) n.330-3300C>G | |
6 | g.33440781G= | CA1620013516 | SYNGAP1,SYNGAP1-AS1 | c.1471G= (p.Ala491=) c.1729G= (p.Ala577=) c.*126G= (n.*126G=) c.1552G= (p.Ala518=) c.1684G= (p.Ala562=) n.330-3300C= | |
6 | g.33440781G>T | CA363692842 | SYNGAP1,SYNGAP1-AS1 | c.1471G>T (p.Ala491Ser) c.1729G>T (p.Ala577Ser) c.*126G>T (n.*126G>T) c.1552G>T (p.Ala518Ser) c.1684G>T (p.Ala562Ser) n.330-3300C>A | dbSNP gnomAD v2 |
6 | g.33440782C>A | CA363692852 | SYNGAP1,SYNGAP1-AS1 | c.1472C>A (p.Ala491Glu) c.1730C>A (p.Ala577Glu) c.*127C>A (n.*127C>A) c.1553C>A (p.Ala518Glu) c.1685C>A (p.Ala562Glu) n.330-3301G>T | |
6 | g.33440782C= | CA1620013517 | SYNGAP1,SYNGAP1-AS1 | c.1472C= (p.Ala491=) c.1730C= (p.Ala577=) c.*127C= (n.*127C=) c.1553C= (p.Ala518=) c.1685C= (p.Ala562=) n.330-3301G= | |
6 | g.33440782C>G | CA363692855 | SYNGAP1,SYNGAP1-AS1 | c.1472C>G (p.Ala491Gly) c.1730C>G (p.Ala577Gly) c.*127C>G (n.*127C>G) c.1553C>G (p.Ala518Gly) c.1685C>G (p.Ala562Gly) n.330-3301G>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
6 | g.33440782C>T | CA363692859 | SYNGAP1,SYNGAP1-AS1 | c.1472C>T (p.Ala491Val) c.1730C>T (p.Ala577Val) c.*127C>T (n.*127C>T) c.1553C>T (p.Ala518Val) c.1685C>T (p.Ala562Val) n.330-3301G>A | gnomAD v4 |
6 | g.33440783A>C | CA450107923 | SYNGAP1,SYNGAP1-AS1 | c.1473A>C (p.Ala491=) c.1731A>C (p.Ala577=) c.*128A>C (n.*128A>C) c.1554A>C (p.Ala518=) c.1686A>C (p.Ala562=) n.330-3302T>G | |
6 | g.33440783A>G | CA450107926 | SYNGAP1,SYNGAP1-AS1 | c.1473A>G (p.Ala491=) c.1731A>G (p.Ala577=) c.*128A>G (n.*128A>G) c.1554A>G (p.Ala518=) c.1686A>G (p.Ala562=) n.330-3302T>C | gnomAD v4 |
6 | g.33440783A>T | CA450107930 | SYNGAP1,SYNGAP1-AS1 | c.1473A>T (p.Ala491=) c.1731A>T (p.Ala577=) c.*128A>T (n.*128A>T) c.1554A>T (p.Ala518=) c.1686A>T (p.Ala562=) n.330-3302T>A | |
6 | g.33440784G>A | CA363692862 | SYNGAP1,SYNGAP1-AS1 | c.1474G>A (p.Glu492Lys) c.1732G>A (p.Glu578Lys) c.*129G>A (n.*129G>A) c.1555G>A (p.Glu519Lys) c.1687G>A (p.Glu563Lys) n.330-3303C>T | |
6 | g.33440784G>C | CA363692864 | SYNGAP1,SYNGAP1-AS1 | c.1474G>C (p.Glu492Gln) c.1732G>C (p.Glu578Gln) c.*129G>C (n.*129G>C) c.1555G>C (p.Glu519Gln) c.1687G>C (p.Glu563Gln) n.330-3303C>G | |
6 | g.33440784G= | CA1620013518 | SYNGAP1,SYNGAP1-AS1 | c.1474G= (p.Glu492=) c.1732G= (p.Glu578=) c.*129G= (n.*129G=) c.1555G= (p.Glu519=) c.1687G= (p.Glu563=) n.330-3303C= | |
6 | g.33440784G>T | CA363692868 | SYNGAP1,SYNGAP1-AS1 | c.1474G>T (p.Glu492Ter) c.1732G>T (p.Glu578Ter) c.*129G>T (n.*129G>T) c.1555G>T (p.Glu519Ter) c.1687G>T (p.Glu563Ter) n.330-3303C>A | dbSNP |
6 | g.33440787_33440790del | CA2695202896 | SYNGAP1,SYNGAP1-AS1 | c.1477_1480del (p.Arg493AlafsTer?) c.1735_1738del (p.Arg579AlafsTer?) c.*132_*135del (n.*132_*135del) c.1558_1561del (p.Arg520AlafsTer?) c.1690_1693del (p.Arg564AlafsTer?) n.330-3306_330-3303del | |
6 | g.33440785A>C | CA363692870 | SYNGAP1,SYNGAP1-AS1 | c.1475A>C (p.Glu492Ala) c.1733A>C (p.Glu578Ala) c.*130A>C (n.*130A>C) c.1556A>C (p.Glu519Ala) c.1688A>C (p.Glu563Ala) n.330-3304T>G | |
6 | g.33440785A>G | CA363692875 | SYNGAP1,SYNGAP1-AS1 | c.1475A>G (p.Glu492Gly) c.1733A>G (p.Glu578Gly) c.*130A>G (n.*130A>G) c.1556A>G (p.Glu519Gly) c.1688A>G (p.Glu563Gly) n.330-3304T>C | dbSNP |
6 | g.33440785A>T | CA363692878 | SYNGAP1,SYNGAP1-AS1 | c.1475A>T (p.Glu492Val) c.1733A>T (p.Glu578Val) c.*130A>T (n.*130A>T) c.1556A>T (p.Glu519Val) c.1688A>T (p.Glu563Val) n.330-3304T>A | |
6 | g.33440786G>A | CA450107949 | SYNGAP1,SYNGAP1-AS1 | c.1476G>A (p.Glu492=) c.1734G>A (p.Glu578=) c.*131G>A (n.*131G>A) c.1557G>A (p.Glu519=) c.1689G>A (p.Glu563=) n.330-3305C>T | gnomAD v4 |
6 | g.33440786G>C | CA363692880 | SYNGAP1,SYNGAP1-AS1 | c.1476G>C (p.Glu492Asp) c.1734G>C (p.Glu578Asp) c.*131G>C (n.*131G>C) c.1557G>C (p.Glu519Asp) c.1689G>C (p.Glu563Asp) n.330-3305C>G | |
6 | g.33440786G>T | CA363692884 | SYNGAP1,SYNGAP1-AS1 | c.1476G>T (p.Glu492Asp) c.1734G>T (p.Glu578Asp) c.*131G>T (n.*131G>T) c.1557G>T (p.Glu519Asp) c.1689G>T (p.Glu563Asp) n.330-3305C>A | |
6 | g.33440788_33440792del | CA913189979 | SYNGAP1,SYNGAP1-AS1 | c.1478_1482del (p.Arg493ProfsTer?) c.1736_1740del (p.Arg579ProfsTer?) c.*133_*137del (n.*133_*137del) c.1559_1563del (p.Arg520ProfsTer?) c.1691_1695del (p.Arg564ProfsTer?) n.330-3309_330-3305del | ClinVar |
6 | g.33440787C>A | CA450107951 | SYNGAP1,SYNGAP1-AS1 | c.1477C>A (p.Arg493=) c.1735C>A (p.Arg579=) c.*132C>A (n.*132C>A) c.1558C>A (p.Arg520=) c.1690C>A (p.Arg564=) n.330-3306G>T | |
6 | g.33440787C= | CA1620013519 | SYNGAP1,SYNGAP1-AS1 | c.1477C= (p.Arg493=) c.1735C= (p.Arg579=) c.*132C= (n.*132C=) c.1558C= (p.Arg520=) c.1690C= (p.Arg564=) n.330-3306G= | |
6 | g.33440787C>G | CA363692889 | SYNGAP1,SYNGAP1-AS1 | c.1477C>G (p.Arg493Gly) c.1735C>G (p.Arg579Gly) c.*132C>G (n.*132C>G) c.1558C>G (p.Arg520Gly) c.1690C>G (p.Arg564Gly) n.330-3306G>C | dbSNP gnomAD v3 gnomAD v4 |
6 | g.33440787C>T | CA118188 | SYNGAP1,SYNGAP1-AS1 | c.1477C>T (p.Arg493Ter) c.1735C>T (p.Arg579Ter) c.*132C>T (n.*132C>T) c.1558C>T (p.Arg520Ter) c.1690C>T (p.Arg564Ter) n.330-3306G>A | ClinVar dbSNP |
6 | g.33440788G>A | CA363692904 | SYNGAP1,SYNGAP1-AS1 | c.1478G>A (p.Arg493Gln) c.1736G>A (p.Arg579Gln) c.*133G>A (n.*133G>A) c.1559G>A (p.Arg520Gln) c.1691G>A (p.Arg564Gln) n.330-3307C>T | gnomAD v4 |
6 | g.33440788G>C | CA363692896 | SYNGAP1,SYNGAP1-AS1 | c.1478G>C (p.Arg493Pro) c.1736G>C (p.Arg579Pro) c.*133G>C (n.*133G>C) c.1559G>C (p.Arg520Pro) c.1691G>C (p.Arg564Pro) n.330-3307C>G | |
6 | g.33440788G>T | CA363692900 | SYNGAP1,SYNGAP1-AS1 | c.1478G>T (p.Arg493Leu) c.1736G>T (p.Arg579Leu) c.*133G>T (n.*133G>T) c.1559G>T (p.Arg520Leu) c.1691G>T (p.Arg564Leu) n.330-3307C>A | |
6 | g.33440789A>C | CA450107967 | SYNGAP1,SYNGAP1-AS1 | c.1479A>C (p.Arg493=) c.1737A>C (p.Arg579=) c.*134A>C (n.*134A>C) c.1560A>C (p.Arg520=) c.1692A>C (p.Arg564=) n.330-3308T>G | |
6 | g.33440789A>G | CA450107965 | SYNGAP1,SYNGAP1-AS1 | c.1479A>G (p.Arg493=) c.1737A>G (p.Arg579=) c.*134A>G (n.*134A>G) c.1560A>G (p.Arg520=) c.1692A>G (p.Arg564=) n.330-3308T>C | |
6 | g.33440789A>T | CA450107963 | SYNGAP1,SYNGAP1-AS1 | c.1479A>T (p.Arg493=) c.1737A>T (p.Arg579=) c.*134A>T (n.*134A>T) c.1560A>T (p.Arg520=) c.1692A>T (p.Arg564=) n.330-3308T>A | |
6 | g.33440790G>A | CA363692909 | SYNGAP1,SYNGAP1-AS1 | c.1480G>A (p.Gly494Ser) c.1738G>A (p.Gly580Ser) c.*135G>A (n.*135G>A) c.1561G>A (p.Gly521Ser) c.1693G>A (p.Gly565Ser) n.330-3309C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
6 | g.33440790G>C | CA363692912 | SYNGAP1,SYNGAP1-AS1 | c.1480G>C (p.Gly494Arg) c.1738G>C (p.Gly580Arg) c.*135G>C (n.*135G>C) c.1561G>C (p.Gly521Arg) c.1693G>C (p.Gly565Arg) n.330-3309C>G | |
6 | g.33440790G= | CA1620013520 | SYNGAP1,SYNGAP1-AS1 | c.1480G= (p.Gly494=) c.1738G= (p.Gly580=) c.*135G= (n.*135G=) c.1561G= (p.Gly521=) c.1693G= (p.Gly565=) n.330-3309C= | |
6 | g.33440790G>T | CA363692915 | SYNGAP1,SYNGAP1-AS1 | c.1480G>T (p.Gly494Cys) c.1738G>T (p.Gly580Cys) c.*135G>T (n.*135G>T) c.1561G>T (p.Gly521Cys) c.1693G>T (p.Gly565Cys) n.330-3309C>A | |
6 | g.33440791G>A | CA363692923 | SYNGAP1,SYNGAP1-AS1 | c.1481G>A (p.Gly494Asp) c.1739G>A (p.Gly580Asp) c.*136G>A (n.*136G>A) c.1562G>A (p.Gly521Asp) c.1694G>A (p.Gly565Asp) n.330-3310C>T | |
6 | g.33440791G>C | CA363692925 | SYNGAP1,SYNGAP1-AS1 | c.1481G>C (p.Gly494Ala) c.1739G>C (p.Gly580Ala) c.*136G>C (n.*136G>C) c.1562G>C (p.Gly521Ala) c.1694G>C (p.Gly565Ala) n.330-3310C>G | |
6 | g.33440791G>T | CA363692929 | SYNGAP1,SYNGAP1-AS1 | c.1481G>T (p.Gly494Val) c.1739G>T (p.Gly580Val) c.*136G>T (n.*136G>T) c.1562G>T (p.Gly521Val) c.1694G>T (p.Gly565Val) n.330-3310C>A | |
6 | g.33440792C>A | CA450107978 | SYNGAP1,SYNGAP1-AS1 | c.1482C>A (p.Gly494=) c.1740C>A (p.Gly580=) c.*137C>A (n.*137C>A) c.1563C>A (p.Gly521=) c.1695C>A (p.Gly565=) n.330-3311G>T | |
6 | g.33440792C>G | CA450107983 | SYNGAP1,SYNGAP1-AS1 | c.1482C>G (p.Gly494=) c.1740C>G (p.Gly580=) c.*137C>G (n.*137C>G) c.1563C>G (p.Gly521=) c.1695C>G (p.Gly565=) n.330-3311G>C | gnomAD v4 |
6 | g.33440792C>T | CA450107980 | SYNGAP1,SYNGAP1-AS1 | c.1482C>T (p.Gly494=) c.1740C>T (p.Gly580=) c.*137C>T (n.*137C>T) c.1563C>T (p.Gly521=) c.1695C>T (p.Gly565=) n.330-3311G>A | |
6 | g.33440793C>A | CA450107986 | SYNGAP1,SYNGAP1-AS1 | c.1483C>A (p.Arg495=) c.1741C>A (p.Arg581=) c.*138C>A (n.*138C>A) c.1564C>A (p.Arg522=) c.1696C>A (p.Arg566=) n.330-3312G>T | |
6 | g.33440793C>G | CA363692933 | SYNGAP1,SYNGAP1-AS1 | c.1483C>G (p.Arg495Gly) c.1741C>G (p.Arg581Gly) c.*138C>G (n.*138C>G) c.1564C>G (p.Arg522Gly) c.1696C>G (p.Arg566Gly) n.330-3312G>C | |
6 | g.33440793C>T | CA363692936 | SYNGAP1,SYNGAP1-AS1 | c.1483C>T (p.Arg495Trp) c.1741C>T (p.Arg581Trp) c.*138C>T (n.*138C>T) c.1564C>T (p.Arg522Trp) c.1696C>T (p.Arg566Trp) n.330-3312G>A | ClinVar dbSNP COSMIC COSMIC |
6 | g.33440793_33440794delinsCG | CA1620013521 | SYNGAP1,SYNGAP1-AS1 | c.1483_1484delinsCG (p.Arg495=) c.1741_1742delinsCG (p.Arg581=) c.*138_*139delinsCG (n.*138_*139delinsCG) c.1564_1565delinsCG (p.Arg522=) c.1696_1697delinsCG (p.Arg566=) n.330-3313_330-3312delinsCG | |
6 | g.33440794G>A | CA363692941 | SYNGAP1,SYNGAP1-AS1 | c.1484G>A (p.Arg495Gln) c.1742G>A (p.Arg581Gln) c.*139G>A (n.*139G>A) c.1565G>A (p.Arg522Gln) c.1697G>A (p.Arg566Gln) n.330-3313C>T | ClinVar dbSNP gnomAD v4 |
6 | g.33440794G>C | CA363692945 | SYNGAP1,SYNGAP1-AS1 | c.1484G>C (p.Arg495Pro) c.1742G>C (p.Arg581Pro) c.*139G>C (n.*139G>C) c.1565G>C (p.Arg522Pro) c.1697G>C (p.Arg566Pro) n.330-3313C>G | gnomAD v4 |
6 | g.33440794G= | CA1620013522 | SYNGAP1,SYNGAP1-AS1 | c.1484G= (p.Arg495=) c.1742G= (p.Arg581=) c.*139G= (n.*139G=) c.1565G= (p.Arg522=) c.1697G= (p.Arg566=) n.330-3313C= | |
6 | g.33440794G>T | CA363692949 | SYNGAP1,SYNGAP1-AS1 | c.1484G>T (p.Arg495Leu) c.1742G>T (p.Arg581Leu) c.*139G>T (n.*139G>T) c.1565G>T (p.Arg522Leu) c.1697G>T (p.Arg566Leu) n.330-3313C>A | gnomAD v4 |
6 | g.33440796del | CA1139659319 | SYNGAP1,SYNGAP1-AS1 | c.1486del (p.Glu496ArgfsTer?) c.1744del (p.Glu582ArgfsTer?) c.*141del (n.*141del) c.1567del (p.Glu523ArgfsTer?) c.1699del (p.Glu567ArgfsTer?) n.330-3313del | ClinVar dbSNP |
6 | g.33440795G>A | CA450107999 | SYNGAP1,SYNGAP1-AS1 | c.1485G>A (p.Arg495=) c.1743G>A (p.Arg581=) c.*140G>A (n.*140G>A) c.1566G>A (p.Arg522=) c.1698G>A (p.Arg566=) n.330-3314C>T | ClinVar gnomAD v4 |
6 | g.33440795G>C | CA450108002 | SYNGAP1,SYNGAP1-AS1 | c.1485G>C (p.Arg495=) c.1743G>C (p.Arg581=) c.*140G>C (n.*140G>C) c.1566G>C (p.Arg522=) c.1698G>C (p.Arg566=) n.330-3314C>G | |
6 | g.33440795G>T | CA450108005 | SYNGAP1,SYNGAP1-AS1 | c.1485G>T (p.Arg495=) c.1743G>T (p.Arg581=) c.*140G>T (n.*140G>T) c.1566G>T (p.Arg522=) c.1698G>T (p.Arg566=) n.330-3314C>A | |
6 | g.33440796G>A | CA363692962 | SYNGAP1,SYNGAP1-AS1 | c.1486G>A (p.Glu496Lys) c.1744G>A (p.Glu582Lys) c.*141G>A (n.*141G>A) c.1567G>A (p.Glu523Lys) c.1699G>A (p.Glu567Lys) n.330-3315C>T | |
6 | g.33440796G>C | CA363692959 | SYNGAP1,SYNGAP1-AS1 | c.1486G>C (p.Glu496Gln) c.1744G>C (p.Glu582Gln) c.*141G>C (n.*141G>C) c.1567G>C (p.Glu523Gln) c.1699G>C (p.Glu567Gln) n.330-3315C>G | |
6 | g.33440796G= | CA1620013523 | SYNGAP1,SYNGAP1-AS1 | c.1486G= (p.Glu496=) c.1744G= (p.Glu582=) c.*141G= (n.*141G=) c.1567G= (p.Glu523=) c.1699G= (p.Glu567=) n.330-3315C= | |
6 | g.33440796G>T | CA363692955 | SYNGAP1,SYNGAP1-AS1 | c.1486G>T (p.Glu496Ter) c.1744G>T (p.Glu582Ter) c.*141G>T (n.*141G>T) c.1567G>T (p.Glu523Ter) c.1699G>T (p.Glu567Ter) n.330-3315C>A | dbSNP |
6 | g.33440797A>C | CA363692967 | SYNGAP1,SYNGAP1-AS1 | c.1487A>C (p.Glu496Ala) c.1745A>C (p.Glu582Ala) c.*142A>C (n.*142A>C) c.1568A>C (p.Glu523Ala) c.1700A>C (p.Glu567Ala) n.330-3316T>G | |
6 | g.33440797A>G | CA363692973 | SYNGAP1,SYNGAP1-AS1 | c.1487A>G (p.Glu496Gly) c.1745A>G (p.Glu582Gly) c.*142A>G (n.*142A>G) c.1568A>G (p.Glu523Gly) c.1700A>G (p.Glu567Gly) n.330-3316T>C | |
6 | g.33440797A>T | CA363692971 | SYNGAP1,SYNGAP1-AS1 | c.1487A>T (p.Glu496Val) c.1745A>T (p.Glu582Val) c.*142A>T (n.*142A>T) c.1568A>T (p.Glu523Val) c.1700A>T (p.Glu567Val) n.330-3316T>A | |
6 | g.33440798G>A | CA450108020 | SYNGAP1,SYNGAP1-AS1 | c.1488G>A (p.Glu496=) c.1746G>A (p.Glu582=) c.*143G>A (n.*143G>A) c.1569G>A (p.Glu523=) c.1701G>A (p.Glu567=) n.330-3317C>T | |
6 | g.33440798G>C | CA363692977 | SYNGAP1,SYNGAP1-AS1 | c.1488G>C (p.Glu496Asp) c.1746G>C (p.Glu582Asp) c.*143G>C (n.*143G>C) c.1569G>C (p.Glu523Asp) c.1701G>C (p.Glu567Asp) n.330-3317C>G | |
6 | g.33440798G>T | CA363692981 | SYNGAP1,SYNGAP1-AS1 | c.1488G>T (p.Glu496Asp) c.1746G>T (p.Glu582Asp) c.*143G>T (n.*143G>T) c.1569G>T (p.Glu523Asp) c.1701G>T (p.Glu567Asp) n.330-3317C>A | |
6 | g.33440799G>A | CA363692997 | SYNGAP1,SYNGAP1-AS1 | c.1489G>A (p.Asp497Asn) c.1747G>A (p.Asp583Asn) c.*144G>A (n.*144G>A) c.1570G>A (p.Asp524Asn) c.1702G>A (p.Asp568Asn) n.330-3318C>T | dbSNP gnomAD v2 gnomAD v4 |
6 | g.33440799G>C | CA363692998 | SYNGAP1,SYNGAP1-AS1 | c.1489G>C (p.Asp497His) c.1747G>C (p.Asp583His) c.*144G>C (n.*144G>C) c.1570G>C (p.Asp524His) c.1702G>C (p.Asp568His) n.330-3318C>G | |
6 | g.33440799G= | CA1620013524 | SYNGAP1,SYNGAP1-AS1 | c.1489G= (p.Asp497=) c.1747G= (p.Asp583=) c.*144G= (n.*144G=) c.1570G= (p.Asp524=) c.1702G= (p.Asp568=) n.330-3318C= | |
6 | g.33440799G>T | CA363692999 | SYNGAP1,SYNGAP1-AS1 | c.1489G>T (p.Asp497Tyr) c.1747G>T (p.Asp583Tyr) c.*144G>T (n.*144G>T) c.1570G>T (p.Asp524Tyr) c.1702G>T (p.Asp568Tyr) n.330-3318C>A | |
6 | g.33440803_33440811dup | CA2695202897 | SYNGAP1,SYNGAP1-AS1 | c.1493_1501dup (p.Asp500_Arg501insIleAlaAsp) c.1751_1759dup (p.Asp586_Arg587insIleAlaAsp) c.*148_*156dup (n.*148_*156dup) c.1574_1582dup (p.Asp527_Arg528insIleAlaAsp) c.1706_1714dup (p.Asp571_Arg572insIleAlaAsp) n.330-3326_330-3318dup | |
6 | g.33440800A>C | CA363693000 | SYNGAP1,SYNGAP1-AS1 | c.1490A>C (p.Asp497Ala) c.1748A>C (p.Asp583Ala) c.*145A>C (n.*145A>C) c.1571A>C (p.Asp524Ala) c.1703A>C (p.Asp568Ala) n.330-3319T>G | |
6 | g.33440800A>G | CA363693001 | SYNGAP1,SYNGAP1-AS1 | c.1490A>G (p.Asp497Gly) c.1748A>G (p.Asp583Gly) c.*145A>G (n.*145A>G) c.1571A>G (p.Asp524Gly) c.1703A>G (p.Asp568Gly) n.330-3319T>C | |
6 | g.33440800A>T | CA363693002 | SYNGAP1,SYNGAP1-AS1 | c.1490A>T (p.Asp497Val) c.1748A>T (p.Asp583Val) c.*145A>T (n.*145A>T) c.1571A>T (p.Asp524Val) c.1703A>T (p.Asp568Val) n.330-3319T>A | |
6 | g.33440801C>A | CA363693004 | SYNGAP1,SYNGAP1-AS1 | c.1491C>A (p.Asp497Glu) c.1749C>A (p.Asp583Glu) c.*146C>A (n.*146C>A) c.1572C>A (p.Asp524Glu) c.1704C>A (p.Asp568Glu) n.330-3320G>T | |
6 | g.33440801C>G | CA363693006 | SYNGAP1,SYNGAP1-AS1 | c.1491C>G (p.Asp497Glu) c.1749C>G (p.Asp583Glu) c.*146C>G (n.*146C>G) c.1572C>G (p.Asp524Glu) c.1704C>G (p.Asp568Glu) n.330-3320G>C | |
6 | g.33440801C>T | CA450108038 | SYNGAP1,SYNGAP1-AS1 | c.1491C>T (p.Asp497=) c.1749C>T (p.Asp583=) c.*146C>T (n.*146C>T) c.1572C>T (p.Asp524=) c.1704C>T (p.Asp568=) n.330-3320G>A | |
6 | g.33440802_33440804del | CA2695202898 | SYNGAP1,SYNGAP1-AS1 | c.1492_1494del (p.Ile498del) c.1750_1752del (p.Ile584del) c.*147_*149del (n.*147_*149del) c.1573_1575del (p.Ile525del) c.1705_1707del (p.Ile569del) n.330-3322_330-3320del | |
6 | g.33440802A= | CA1620013525 | SYNGAP1,SYNGAP1-AS1 | c.1492A= (p.Ile498=) c.1750A= (p.Ile584=) c.*147A= (n.*147A=) c.1573A= (p.Ile525=) c.1705A= (p.Ile569=) n.330-3321T= | |
6 | g.33440802A>C | CA363693008 | SYNGAP1,SYNGAP1-AS1 | c.1492A>C (p.Ile498Leu) c.1750A>C (p.Ile584Leu) c.*147A>C (n.*147A>C) c.1573A>C (p.Ile525Leu) c.1705A>C (p.Ile569Leu) n.330-3321T>G | |
6 | g.33440802A>G | CA363693010 | SYNGAP1,SYNGAP1-AS1 | c.1492A>G (p.Ile498Val) c.1750A>G (p.Ile584Val) c.*147A>G (n.*147A>G) c.1573A>G (p.Ile525Val) c.1705A>G (p.Ile569Val) n.330-3321T>C | dbSNP gnomAD v2 gnomAD v4 |
6 | g.33440802A>T | CA363693013 | SYNGAP1,SYNGAP1-AS1 | c.1492A>T (p.Ile498Phe) c.1750A>T (p.Ile584Phe) c.*147A>T (n.*147A>T) c.1573A>T (p.Ile525Phe) c.1705A>T (p.Ile569Phe) n.330-3321T>A | |
6 | g.33440803T>A | CA363693018 | SYNGAP1,SYNGAP1-AS1 | c.1493T>A (p.Ile498Asn) c.1751T>A (p.Ile584Asn) c.*148T>A (n.*148T>A) c.1574T>A (p.Ile525Asn) c.1706T>A (p.Ile569Asn) n.330-3322A>T | |
6 | g.33440803T>C | CA363693024 | SYNGAP1,SYNGAP1-AS1 | c.1493T>C (p.Ile498Thr) c.1751T>C (p.Ile584Thr) c.*148T>C (n.*148T>C) c.1574T>C (p.Ile525Thr) c.1706T>C (p.Ile569Thr) n.330-3322A>G | |
6 | g.33440803T>G | CA363693021 | SYNGAP1,SYNGAP1-AS1 | c.1493T>G (p.Ile498Ser) c.1751T>G (p.Ile584Ser) c.*148T>G (n.*148T>G) c.1574T>G (p.Ile525Ser) c.1706T>G (p.Ile569Ser) n.330-3322A>C | |
6 | g.33440804C>A | CA450108049 | SYNGAP1,SYNGAP1-AS1 | c.1494C>A (p.Ile498=) c.1752C>A (p.Ile584=) c.*149C>A (n.*149C>A) c.1575C>A (p.Ile525=) c.1707C>A (p.Ile569=) n.330-3323G>T | gnomAD v4 |
6 | g.33440804C= | CA1620013526 | SYNGAP1,SYNGAP1-AS1 | c.1494C= (p.Ile498=) c.1752C= (p.Ile584=) c.*149C= (n.*149C=) c.1575C= (p.Ile525=) c.1707C= (p.Ile569=) n.330-3323G= | |
6 | g.33440804C>G | CA363693028 | SYNGAP1,SYNGAP1-AS1 | c.1494C>G (p.Ile498Met) c.1752C>G (p.Ile584Met) c.*149C>G (n.*149C>G) c.1575C>G (p.Ile525Met) c.1707C>G (p.Ile569Met) n.330-3323G>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
6 | g.33440804C>T | CA450108052 | SYNGAP1,SYNGAP1-AS1 | c.1494C>T (p.Ile498=) c.1752C>T (p.Ile584=) c.*149C>T (n.*149C>T) c.1575C>T (p.Ile525=) c.1707C>T (p.Ile569=) n.330-3323G>A | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
6 | g.33440805G>A | CA363693034 | SYNGAP1,SYNGAP1-AS1 | c.1495G>A (p.Ala499Thr) c.1753G>A (p.Ala585Thr) c.*150G>A (n.*150G>A) c.1576G>A (p.Ala526Thr) c.1708G>A (p.Ala570Thr) n.330-3324C>T | dbSNP gnomAD v2 gnomAD v4 |
6 | g.33440805G>C | CA363693036 | SYNGAP1,SYNGAP1-AS1 | c.1495G>C (p.Ala499Pro) c.1753G>C (p.Ala585Pro) c.*150G>C (n.*150G>C) c.1576G>C (p.Ala526Pro) c.1708G>C (p.Ala570Pro) n.330-3324C>G | |
6 | g.33440805G= | CA1620013527 | SYNGAP1,SYNGAP1-AS1 | c.1495G= (p.Ala499=) c.1753G= (p.Ala585=) c.*150G= (n.*150G=) c.1576G= (p.Ala526=) c.1708G= (p.Ala570=) n.330-3324C= | |
6 | g.33440805G>T | CA363693039 | SYNGAP1,SYNGAP1-AS1 | c.1495G>T (p.Ala499Ser) c.1753G>T (p.Ala585Ser) c.*150G>T (n.*150G>T) c.1576G>T (p.Ala526Ser) c.1708G>T (p.Ala570Ser) n.330-3324C>A | |
6 | g.33440806C>A | CA363693044 | SYNGAP1,SYNGAP1-AS1 | c.1496C>A (p.Ala499Glu) c.1754C>A (p.Ala585Glu) c.*151C>A (n.*151C>A) c.1577C>A (p.Ala526Glu) c.1709C>A (p.Ala570Glu) n.330-3325G>T | |
6 | g.33440806C>G | CA363693048 | SYNGAP1,SYNGAP1-AS1 | c.1496C>G (p.Ala499Gly) c.1754C>G (p.Ala585Gly) c.*151C>G (n.*151C>G) c.1577C>G (p.Ala526Gly) c.1709C>G (p.Ala570Gly) n.330-3325G>C | |
6 | g.33440806C>T | CA363693051 | SYNGAP1,SYNGAP1-AS1 | c.1496C>T (p.Ala499Val) c.1754C>T (p.Ala585Val) c.*151C>T (n.*151C>T) c.1577C>T (p.Ala526Val) c.1709C>T (p.Ala570Val) n.330-3325G>A | COSMIC COSMIC |
6 | g.33440807A>C | CA450108063 | SYNGAP1,SYNGAP1-AS1 | c.1497A>C (p.Ala499=) c.1755A>C (p.Ala585=) c.*152A>C (n.*152A>C) c.1578A>C (p.Ala526=) c.1710A>C (p.Ala570=) n.330-3326T>G | |
6 | g.33440807A>G | CA450108067 | SYNGAP1,SYNGAP1-AS1 | c.1497A>G (p.Ala499=) c.1755A>G (p.Ala585=) c.*152A>G (n.*152A>G) c.1578A>G (p.Ala526=) c.1710A>G (p.Ala570=) n.330-3326T>C | |
6 | g.33440807A>T | CA450108070 | SYNGAP1,SYNGAP1-AS1 | c.1497A>T (p.Ala499=) c.1755A>T (p.Ala585=) c.*152A>T (n.*152A>T) c.1578A>T (p.Ala526=) c.1710A>T (p.Ala570=) n.330-3326T>A | |
6 | g.33440808G>A | CA363693057 | SYNGAP1,SYNGAP1-AS1 | c.1498G>A (p.Asp500Asn) c.1756G>A (p.Asp586Asn) c.*153G>A (n.*153G>A) c.1579G>A (p.Asp527Asn) c.1711G>A (p.Asp571Asn) n.330-3327C>T | |
6 | g.33440808G>C | CA363693061 | SYNGAP1,SYNGAP1-AS1 | c.1498G>C (p.Asp500His) c.1756G>C (p.Asp586His) c.*153G>C (n.*153G>C) c.1579G>C (p.Asp527His) c.1711G>C (p.Asp571His) n.330-3327C>G | |
6 | g.33440808G>T | CA363693070 | SYNGAP1,SYNGAP1-AS1 | c.1498G>T (p.Asp500Tyr) c.1756G>T (p.Asp586Tyr) c.*153G>T (n.*153G>T) c.1579G>T (p.Asp527Tyr) c.1711G>T (p.Asp571Tyr) n.330-3327C>A | |
6 | g.33440809A>C | CA363693081 | SYNGAP1,SYNGAP1-AS1 | c.1499A>C (p.Asp500Ala) c.1757A>C (p.Asp586Ala) c.*154A>C (n.*154A>C) c.1580A>C (p.Asp527Ala) c.1712A>C (p.Asp571Ala) n.330-3328T>G | |
6 | g.33440809A>G | CA363693078 | SYNGAP1,SYNGAP1-AS1 | c.1499A>G (p.Asp500Gly) c.1757A>G (p.Asp586Gly) c.*154A>G (n.*154A>G) c.1580A>G (p.Asp527Gly) c.1712A>G (p.Asp571Gly) n.330-3328T>C | |
6 | g.33440809A>T | CA363693075 | SYNGAP1,SYNGAP1-AS1 | c.1499A>T (p.Asp500Val) c.1757A>T (p.Asp586Val) c.*154A>T (n.*154A>T) c.1580A>T (p.Asp527Val) c.1712A>T (p.Asp571Val) n.330-3328T>A | |
6 | g.33440810C>A | CA363693086 | SYNGAP1,SYNGAP1-AS1 | c.1500C>A (p.Asp500Glu) c.1758C>A (p.Asp586Glu) c.*155C>A (n.*155C>A) c.1581C>A (p.Asp527Glu) c.1713C>A (p.Asp571Glu) n.330-3329G>T | |
6 | g.33440810C= | CA1620013528 | SYNGAP1,SYNGAP1-AS1 | c.1500C= (p.Asp500=) c.1758C= (p.Asp586=) c.*155C= (n.*155C=) c.1581C= (p.Asp527=) c.1713C= (p.Asp571=) n.330-3329G= | |
6 | g.33440810C>G | CA363693097 | SYNGAP1,SYNGAP1-AS1 | c.1500C>G (p.Asp500Glu) c.1758C>G (p.Asp586Glu) c.*155C>G (n.*155C>G) c.1581C>G (p.Asp527Glu) c.1713C>G (p.Asp571Glu) n.330-3329G>C | |
6 | g.33440810C>T | CA450108091 | SYNGAP1,SYNGAP1-AS1 | c.1500C>T (p.Asp500=) c.1758C>T (p.Asp586=) c.*155C>T (n.*155C>T) c.1581C>T (p.Asp527=) c.1713C>T (p.Asp571=) n.330-3329G>A | dbSNP gnomAD v3 gnomAD v4 |
6 | g.33440811A= | CA1620013529 | SYNGAP1,SYNGAP1-AS1 | c.1501A= (p.Arg501=) c.1759A= (p.Arg587=) c.*156A= (n.*156A=) c.1582A= (p.Arg528=) c.1714A= (p.Arg572=) n.330-3330T= | |
6 | g.33440811A>C | CA450108094 | SYNGAP1,SYNGAP1-AS1 | c.1501A>C (p.Arg501=) c.1759A>C (p.Arg587=) c.*156A>C (n.*156A>C) c.1582A>C (p.Arg528=) c.1714A>C (p.Arg572=) n.330-3330T>G | |
6 | g.33440811A>G | CA3758704 | SYNGAP1,SYNGAP1-AS1 | c.1501A>G (p.Arg501Gly) c.1759A>G (p.Arg587Gly) c.*156A>G (n.*156A>G) c.1582A>G (p.Arg528Gly) c.1714A>G (p.Arg572Gly) n.330-3330T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.33440811A>T | CA363693102 | SYNGAP1,SYNGAP1-AS1 | c.1501A>T (p.Arg501Trp) c.1759A>T (p.Arg587Trp) c.*156A>T (n.*156A>T) c.1582A>T (p.Arg528Trp) c.1714A>T (p.Arg572Trp) n.330-3330T>A | gnomAD v4 |
6 | g.33440812G>A | CA363693106 | SYNGAP1,SYNGAP1-AS1 | c.1502G>A (p.Arg501Lys) c.1760G>A (p.Arg587Lys) c.*157G>A (n.*157G>A) c.1583G>A (p.Arg528Lys) c.1715G>A (p.Arg572Lys) n.330-3331C>T | |
6 | g.33440812G>C | CA363693116 | SYNGAP1,SYNGAP1-AS1 | c.1502G>C (p.Arg501Thr) c.1760G>C (p.Arg587Thr) c.*157G>C (n.*157G>C) c.1583G>C (p.Arg528Thr) c.1715G>C (p.Arg572Thr) n.330-3331C>G | ClinVar dbSNP |
6 | g.33440812G= | CA1620013530 | SYNGAP1,SYNGAP1-AS1 | c.1502G= (p.Arg501=) c.1760G= (p.Arg587=) c.*157G= (n.*157G=) c.1583G= (p.Arg528=) c.1715G= (p.Arg572=) n.330-3331C= | |
6 | g.33440812G>T | CA363693129 | SYNGAP1,SYNGAP1-AS1 | c.1502G>T (p.Arg501Met) c.1760G>T (p.Arg587Met) c.*157G>T (n.*157G>T) c.1583G>T (p.Arg528Met) c.1715G>T (p.Arg572Met) n.330-3331C>A | |
6 | g.33440813del | CA2580074407 | SYNGAP1,SYNGAP1-AS1 | c.1503del (p.Arg501SerfsTer?) c.1761del (p.Arg587SerfsTer?) c.*158del (n.*158del) c.1584del (p.Arg528SerfsTer?) c.1716del (p.Arg572SerfsTer?) n.330-3331del | ClinVar |
6 | g.33440813G>A | CA450108127 | SYNGAP1,SYNGAP1-AS1 | c.1503G>A (p.Arg501=) c.1761G>A (p.Arg587=) c.*158G>A (n.*158G>A) c.1584G>A (p.Arg528=) c.1716G>A (p.Arg572=) n.330-3332C>T | |
6 | g.33440813G>C | CA363693130 | SYNGAP1,SYNGAP1-AS1 | c.1503G>C (p.Arg501Ser) c.1761G>C (p.Arg587Ser) c.*158G>C (n.*158G>C) c.1584G>C (p.Arg528Ser) c.1716G>C (p.Arg572Ser) n.330-3332C>G | |
6 | g.33440813G= | CA1620013531 | SYNGAP1,SYNGAP1-AS1 | c.1503G= (p.Arg501=) c.1761G= (p.Arg587=) c.*158G= (n.*158G=) c.1584G= (p.Arg528=) c.1716G= (p.Arg572=) n.330-3332C= | |
6 | g.33440813G>T | CA3758705 | SYNGAP1,SYNGAP1-AS1 | c.1503G>T (p.Arg501Ser) c.1761G>T (p.Arg587Ser) c.*158G>T (n.*158G>T) c.1584G>T (p.Arg528Ser) c.1716G>T (p.Arg572Ser) n.330-3332C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.33440814C>A | CA363693134 | SYNGAP1,SYNGAP1-AS1 | c.1504C>A (p.Leu502Ile) c.1762C>A (p.Leu588Ile) c.*159C>A (n.*159C>A) c.1585C>A (p.Leu529Ile) c.1717C>A (p.Leu573Ile) n.330-3333G>T | |
6 | g.33440814C= | CA1620013532 | SYNGAP1,SYNGAP1-AS1 | c.1504C= (p.Leu502=) c.1762C= (p.Leu588=) c.*159C= (n.*159C=) c.1585C= (p.Leu529=) c.1717C= (p.Leu573=) n.330-3333G= | |
6 | g.33440814C>G | CA363693135 | SYNGAP1,SYNGAP1-AS1 | c.1504C>G (p.Leu502Val) c.1762C>G (p.Leu588Val) c.*159C>G (n.*159C>G) c.1585C>G (p.Leu529Val) c.1717C>G (p.Leu573Val) n.330-3333G>C | |
6 | g.33440814C>T | CA363693136 | SYNGAP1,SYNGAP1-AS1 | c.1504C>T (p.Leu502Phe) c.1762C>T (p.Leu588Phe) c.*159C>T (n.*159C>T) c.1585C>T (p.Leu529Phe) c.1717C>T (p.Leu573Phe) n.330-3333G>A | dbSNP gnomAD v4 |
6 | g.33440815T>A | CA16618281 | SYNGAP1,SYNGAP1-AS1 | c.1505T>A (p.Leu502His) c.1763T>A (p.Leu588His) c.*160T>A (n.*160T>A) c.1586T>A (p.Leu529His) c.1718T>A (p.Leu573His) n.330-3334A>T | ClinVar dbSNP |
6 | g.33440815T>C | CA363693142 | SYNGAP1,SYNGAP1-AS1 | c.1505T>C (p.Leu502Pro) c.1763T>C (p.Leu588Pro) c.*160T>C (n.*160T>C) c.1586T>C (p.Leu529Pro) c.1718T>C (p.Leu573Pro) n.330-3334A>G | ClinVar |
6 | g.33440815T>G | CA363693139 | SYNGAP1,SYNGAP1-AS1 | c.1505T>G (p.Leu502Arg) c.1763T>G (p.Leu588Arg) c.*160T>G (n.*160T>G) c.1586T>G (p.Leu529Arg) c.1718T>G (p.Leu573Arg) n.330-3334A>C | |
6 | g.33440815T= | CA1620013533 | SYNGAP1,SYNGAP1-AS1 | c.1505T= (p.Leu502=) c.1763T= (p.Leu588=) c.*160T= (n.*160T=) c.1586T= (p.Leu529=) c.1718T= (p.Leu573=) n.330-3334A= | |
6 | g.33440816T>A | CA450108136 | SYNGAP1,SYNGAP1-AS1 | c.1506T>A (p.Leu502=) c.1764T>A (p.Leu588=) c.*161T>A (n.*161T>A) c.1587T>A (p.Leu529=) c.1719T>A (p.Leu573=) n.330-3335A>T | |
6 | g.33440816T>C | CA450108139 | SYNGAP1,SYNGAP1-AS1 | c.1506T>C (p.Leu502=) c.1764T>C (p.Leu588=) c.*161T>C (n.*161T>C) c.1587T>C (p.Leu529=) c.1719T>C (p.Leu573=) n.330-3335A>G | gnomAD v4 |
6 | g.33440816T>G | CA450108142 | SYNGAP1,SYNGAP1-AS1 | c.1506T>G (p.Leu502=) c.1764T>G (p.Leu588=) c.*161T>G (n.*161T>G) c.1587T>G (p.Leu529=) c.1719T>G (p.Leu573=) n.330-3335A>C | |
6 | g.33440817A>C | CA363693145 | SYNGAP1,SYNGAP1-AS1 | c.1507A>C (p.Ile503Leu) c.1765A>C (p.Ile589Leu) c.*162A>C (n.*162A>C) c.1588A>C (p.Ile530Leu) c.1720A>C (p.Ile574Leu) n.330-3336T>G | |
6 | g.33440817A>G | CA363693148 | SYNGAP1,SYNGAP1-AS1 | c.1507A>G (p.Ile503Val) c.1765A>G (p.Ile589Val) c.*162A>G (n.*162A>G) c.1588A>G (p.Ile530Val) c.1720A>G (p.Ile574Val) n.330-3336T>C | |
6 | g.33440817A>T | CA363693150 | SYNGAP1,SYNGAP1-AS1 | c.1507A>T (p.Ile503Phe) c.1765A>T (p.Ile589Phe) c.*162A>T (n.*162A>T) c.1588A>T (p.Ile530Phe) c.1720A>T (p.Ile574Phe) n.330-3336T>A | |
6 | g.33440818T>A | CA363693155 | SYNGAP1,SYNGAP1-AS1 | c.1508T>A (p.Ile503Asn) c.1766T>A (p.Ile589Asn) c.*163T>A (n.*163T>A) c.1589T>A (p.Ile530Asn) c.1721T>A (p.Ile574Asn) n.330-3337A>T | |
6 | g.33440818T>C | CA363693159 | SYNGAP1,SYNGAP1-AS1 | c.1508T>C (p.Ile503Thr) c.1766T>C (p.Ile589Thr) c.*163T>C (n.*163T>C) c.1589T>C (p.Ile530Thr) c.1721T>C (p.Ile574Thr) n.330-3337A>G | |
6 | g.33440818T>G | CA363693185 | SYNGAP1,SYNGAP1-AS1 | c.1508T>G (p.Ile503Ser) c.1766T>G (p.Ile589Ser) c.*163T>G (n.*163T>G) c.1589T>G (p.Ile530Ser) c.1721T>G (p.Ile574Ser) n.330-3337A>C | |
6 | g.33440819C>A | CA450108159 | SYNGAP1,SYNGAP1-AS1 | c.1509C>A (p.Ile503=) c.1767C>A (p.Ile589=) c.*164C>A (n.*164C>A) c.1590C>A (p.Ile530=) c.1722C>A (p.Ile574=) n.330-3338G>T | |
6 | g.33440819C= | CA1620013534 | SYNGAP1,SYNGAP1-AS1 | c.1509C= (p.Ile503=) c.1767C= (p.Ile589=) c.*164C= (n.*164C=) c.1590C= (p.Ile530=) c.1722C= (p.Ile574=) n.330-3338G= | |
6 | g.33440819C>G | CA363693188 | SYNGAP1,SYNGAP1-AS1 | c.1509C>G (p.Ile503Met) c.1767C>G (p.Ile589Met) c.*164C>G (n.*164C>G) c.1590C>G (p.Ile530Met) c.1722C>G (p.Ile574Met) n.330-3338G>C | ClinVar dbSNP |
6 | g.33440819C>T | CA450108164 | SYNGAP1,SYNGAP1-AS1 | c.1509C>T (p.Ile503=) c.1767C>T (p.Ile589=) c.*164C>T (n.*164C>T) c.1590C>T (p.Ile530=) c.1722C>T (p.Ile574=) n.330-3338G>A | |
6 | g.33440820A= | CA1620013535 | SYNGAP1,SYNGAP1-AS1 | c.1510A= (p.Ser504=) c.1768A= (p.Ser590=) c.*165A= (n.*165A=) c.1591A= (p.Ser531=) c.1723A= (p.Ser575=) n.330-3339T= | |
6 | g.33440820A>C | CA363693191 | SYNGAP1,SYNGAP1-AS1 | c.1510A>C (p.Ser504Arg) c.1768A>C (p.Ser590Arg) c.*165A>C (n.*165A>C) c.1591A>C (p.Ser531Arg) c.1723A>C (p.Ser575Arg) n.330-3339T>G | |
6 | g.33440820A>G | CA363693193 | SYNGAP1,SYNGAP1-AS1 | c.1510A>G (p.Ser504Gly) c.1768A>G (p.Ser590Gly) c.*165A>G (n.*165A>G) c.1591A>G (p.Ser531Gly) c.1723A>G (p.Ser575Gly) n.330-3339T>C | ClinVar dbSNP gnomAD v4 |
6 | g.33440820A>T | CA363693195 | SYNGAP1,SYNGAP1-AS1 | c.1510A>T (p.Ser504Cys) c.1768A>T (p.Ser590Cys) c.*165A>T (n.*165A>T) c.1591A>T (p.Ser531Cys) c.1723A>T (p.Ser575Cys) n.330-3339T>A | |
6 | g.33440821G>A | CA363693200 | SYNGAP1,SYNGAP1-AS1 | c.1511G>A (p.Ser504Asn) c.1769G>A (p.Ser590Asn) c.*166G>A (n.*166G>A) c.1592G>A (p.Ser531Asn) c.1724G>A (p.Ser575Asn) n.330-3340C>T | |
6 | g.33440821G>C | CA363693206 | SYNGAP1,SYNGAP1-AS1 | c.1511G>C (p.Ser504Thr) c.1769G>C (p.Ser590Thr) c.*166G>C (n.*166G>C) c.1592G>C (p.Ser531Thr) c.1724G>C (p.Ser575Thr) n.330-3340C>G | |
6 | g.33440821G>T | CA363693208 | SYNGAP1,SYNGAP1-AS1 | c.1511G>T (p.Ser504Ile) c.1769G>T (p.Ser590Ile) c.*166G>T (n.*166G>T) c.1592G>T (p.Ser531Ile) c.1724G>T (p.Ser575Ile) n.330-3340C>A | |
6 | g.33440822C>A | CA363693214 | SYNGAP1,SYNGAP1-AS1 | c.1512C>A (p.Ser504Arg) c.1770C>A (p.Ser590Arg) c.*167C>A (n.*167C>A) c.1593C>A (p.Ser531Arg) c.1725C>A (p.Ser575Arg) n.330-3341G>T | |
6 | g.33440822C= | CA1620013536 | SYNGAP1,SYNGAP1-AS1 | c.1512C= (p.Ser504=) c.1770C= (p.Ser590=) c.*167C= (n.*167C=) c.1593C= (p.Ser531=) c.1725C= (p.Ser575=) n.330-3341G= | |
6 | g.33440822C>G | CA363693212 | SYNGAP1,SYNGAP1-AS1 | c.1512C>G (p.Ser504Arg) c.1770C>G (p.Ser590Arg) c.*167C>G (n.*167C>G) c.1593C>G (p.Ser531Arg) c.1725C>G (p.Ser575Arg) n.330-3341G>C | |
6 | g.33440822C>T | CA3758706 | SYNGAP1,SYNGAP1-AS1 | c.1512C>T (p.Ser504=) c.1770C>T (p.Ser590=) c.*167C>T (n.*167C>T) c.1593C>T (p.Ser531=) c.1725C>T (p.Ser575=) n.330-3341G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.33440823G>A | CA137098902 | SYNGAP1,SYNGAP1-AS1 | c.1513G>A (p.Ala505Thr) c.1771G>A (p.Ala591Thr) c.*168G>A (n.*168G>A) c.1594G>A (p.Ala532Thr) c.1726G>A (p.Ala576Thr) n.330-3342C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.33440823G>C | CA363693223 | SYNGAP1,SYNGAP1-AS1 | c.1513G>C (p.Ala505Pro) c.1771G>C (p.Ala591Pro) c.*168G>C (n.*168G>C) c.1594G>C (p.Ala532Pro) c.1726G>C (p.Ala576Pro) n.330-3342C>G | ClinVar |
6 | g.33440823G= | CA1620013537 | SYNGAP1,SYNGAP1-AS1 | c.1513G= (p.Ala505=) c.1771G= (p.Ala591=) c.*168G= (n.*168G=) c.1594G= (p.Ala532=) c.1726G= (p.Ala576=) n.330-3342C= | |
6 | g.33440823G>T | CA363693219 | SYNGAP1,SYNGAP1-AS1 | c.1513G>T (p.Ala505Ser) c.1771G>T (p.Ala591Ser) c.*168G>T (n.*168G>T) c.1594G>T (p.Ala532Ser) c.1726G>T (p.Ala576Ser) n.330-3342C>A | |
6 | g.33440824C>A | CA363693226 | SYNGAP1,SYNGAP1-AS1 | c.1514C>A (p.Ala505Asp) c.1772C>A (p.Ala591Asp) c.*169C>A (n.*169C>A) c.1595C>A (p.Ala532Asp) c.1727C>A (p.Ala576Asp) n.330-3343G>T | |
6 | g.33440824C= | CA1620013538 | SYNGAP1,SYNGAP1-AS1 | c.1514C= (p.Ala505=) c.1772C= (p.Ala591=) c.*169C= (n.*169C=) c.1595C= (p.Ala532=) c.1727C= (p.Ala576=) n.330-3343G= | |
6 | g.33440824C>G | CA363693230 | SYNGAP1,SYNGAP1-AS1 | c.1514C>G (p.Ala505Gly) c.1772C>G (p.Ala591Gly) c.*169C>G (n.*169C>G) c.1595C>G (p.Ala532Gly) c.1727C>G (p.Ala576Gly) n.330-3343G>C | |
6 | g.33440824C>T | CA3758707 | SYNGAP1,SYNGAP1-AS1 | c.1514C>T (p.Ala505Val) c.1772C>T (p.Ala591Val) c.*169C>T (n.*169C>T) c.1595C>T (p.Ala532Val) c.1727C>T (p.Ala576Val) n.330-3343G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.33440825C>A | CA450108188 | SYNGAP1,SYNGAP1-AS1 | c.1515C>A (p.Ala505=) c.1773C>A (p.Ala591=) c.*170C>A (n.*170C>A) c.1596C>A (p.Ala532=) c.1728C>A (p.Ala576=) n.330-3344G>T | |
6 | g.33440825C= | CA1620013539 | SYNGAP1,SYNGAP1-AS1 | c.1515C= (p.Ala505=) c.1773C= (p.Ala591=) c.*170C= (n.*170C=) c.1596C= (p.Ala532=) c.1728C= (p.Ala576=) n.330-3344G= | |
6 | g.33440825C>G | CA450108189 | SYNGAP1,SYNGAP1-AS1 | c.1515C>G (p.Ala505=) c.1773C>G (p.Ala591=) c.*170C>G (n.*170C>G) c.1596C>G (p.Ala532=) c.1728C>G (p.Ala576=) n.330-3344G>C | |
6 | g.33440825C>T | CA450108192 | SYNGAP1,SYNGAP1-AS1 | c.1515C>T (p.Ala505=) c.1773C>T (p.Ala591=) c.*170C>T (n.*170C>T) c.1596C>T (p.Ala532=) c.1728C>T (p.Ala576=) n.330-3344G>A | dbSNP |
6 | g.33440826T>A | CA363693231 | SYNGAP1,SYNGAP1-AS1 | c.1516T>A (p.Ser506Thr) c.1774T>A (p.Ser592Thr) c.*171T>A (n.*171T>A) c.1597T>A (p.Ser533Thr) c.1729T>A (p.Ser577Thr) n.330-3345A>T | |
6 | g.33440826T>C | CA363693232 | SYNGAP1,SYNGAP1-AS1 | c.1516T>C (p.Ser506Pro) c.1774T>C (p.Ser592Pro) c.*171T>C (n.*171T>C) c.1597T>C (p.Ser533Pro) c.1729T>C (p.Ser577Pro) n.330-3345A>G | |
6 | g.33440826T>G | CA363693234 | SYNGAP1,SYNGAP1-AS1 | c.1516T>G (p.Ser506Ala) c.1774T>G (p.Ser592Ala) c.*171T>G (n.*171T>G) c.1597T>G (p.Ser533Ala) c.1729T>G (p.Ser577Ala) n.330-3345A>C | |
6 | g.33440827C>A | CA363693239 | SYNGAP1,SYNGAP1-AS1 | c.1517C>A (p.Ser506Ter) c.1775C>A (p.Ser592Ter) c.*172C>A (n.*172C>A) c.1598C>A (p.Ser533Ter) c.1730C>A (p.Ser577Ter) n.330-3346G>T | |
6 | g.33440827C>G | CA363693241 | SYNGAP1,SYNGAP1-AS1 | c.1517C>G (p.Ser506Ter) c.1775C>G (p.Ser592Ter) c.*172C>G (n.*172C>G) c.1598C>G (p.Ser533Ter) c.1730C>G (p.Ser577Ter) n.330-3346G>C | |
6 | g.33440827C>T | CA363693245 | SYNGAP1,SYNGAP1-AS1 | c.1517C>T (p.Ser506Leu) c.1775C>T (p.Ser592Leu) c.*172C>T (n.*172C>T) c.1598C>T (p.Ser533Leu) c.1730C>T (p.Ser577Leu) n.330-3346G>A | |
6 | g.33440828A= | CA1620013540 | SYNGAP1,SYNGAP1-AS1 | c.1518A= (p.Ser506=) c.1776A= (p.Ser592=) c.*173A= (n.*173A=) c.1599A= (p.Ser533=) c.1731A= (p.Ser577=) n.330-3347T= | |
6 | g.33440828A>C | CA450108196 | SYNGAP1,SYNGAP1-AS1 | c.1518A>C (p.Ser506=) c.1776A>C (p.Ser592=) c.*173A>C (n.*173A>C) c.1599A>C (p.Ser533=) c.1731A>C (p.Ser577=) n.330-3347T>G | |
6 | g.33440828A>G | CA3758708 | SYNGAP1,SYNGAP1-AS1 | c.1518A>G (p.Ser506=) c.1776A>G (p.Ser592=) c.*173A>G (n.*173A>G) c.1599A>G (p.Ser533=) c.1731A>G (p.Ser577=) n.330-3347T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.33440828A>T | CA450108197 | SYNGAP1,SYNGAP1-AS1 | c.1518A>T (p.Ser506=) c.1776A>T (p.Ser592=) c.*173A>T (n.*173A>T) c.1599A>T (p.Ser533=) c.1731A>T (p.Ser577=) n.330-3347T>A | |
6 | g.33440829C>A | CA363693258 | SYNGAP1,SYNGAP1-AS1 | c.1519C>A (p.Leu507Ile) c.1777C>A (p.Leu593Ile) c.*174C>A (n.*174C>A) c.1600C>A (p.Leu534Ile) c.1732C>A (p.Leu578Ile) n.330-3348G>T | |
6 | g.33440829C>G | CA363693260 | SYNGAP1,SYNGAP1-AS1 | c.1519C>G (p.Leu507Val) c.1777C>G (p.Leu593Val) c.*174C>G (n.*174C>G) c.1600C>G (p.Leu534Val) c.1732C>G (p.Leu578Val) n.330-3348G>C | |
6 | g.33440829C>T | CA363693262 | SYNGAP1,SYNGAP1-AS1 | c.1519C>T (p.Leu507Phe) c.1777C>T (p.Leu593Phe) c.*174C>T (n.*174C>T) c.1600C>T (p.Leu534Phe) c.1732C>T (p.Leu578Phe) n.330-3348G>A | |
6 | g.33440830T>A | CA363693279 | SYNGAP1,SYNGAP1-AS1 | c.1520T>A (p.Leu507His) c.1778T>A (p.Leu593His) c.*175T>A (n.*175T>A) c.1601T>A (p.Leu534His) c.1733T>A (p.Leu578His) n.330-3349A>T | ClinVar |
6 | g.33440830T>C | CA363693284 | SYNGAP1,SYNGAP1-AS1 | c.1520T>C (p.Leu507Pro) c.1778T>C (p.Leu593Pro) c.*175T>C (n.*175T>C) c.1601T>C (p.Leu534Pro) c.1733T>C (p.Leu578Pro) n.330-3349A>G | |
6 | g.33440830T>G | CA363693287 | SYNGAP1,SYNGAP1-AS1 | c.1520T>G (p.Leu507Arg) c.1778T>G (p.Leu593Arg) c.*175T>G (n.*175T>G) c.1601T>G (p.Leu534Arg) c.1733T>G (p.Leu578Arg) n.330-3349A>C | |
6 | g.33440831C>A | CA450108202 | SYNGAP1,SYNGAP1-AS1 | c.1521C>A (p.Leu507=) c.1779C>A (p.Leu593=) c.*176C>A (n.*176C>A) c.1602C>A (p.Leu534=) c.1734C>A (p.Leu578=) n.330-3350G>T | |
6 | g.33440831C>G | CA450108204 | SYNGAP1,SYNGAP1-AS1 | c.1521C>G (p.Leu507=) c.1779C>G (p.Leu593=) c.*176C>G (n.*176C>G) c.1602C>G (p.Leu534=) c.1734C>G (p.Leu578=) n.330-3350G>C | |
6 | g.33440831C>T | CA450108205 | SYNGAP1,SYNGAP1-AS1 | c.1521C>T (p.Leu507=) c.1779C>T (p.Leu593=) c.*176C>T (n.*176C>T) c.1602C>T (p.Leu534=) c.1734C>T (p.Leu578=) n.330-3350G>A | |
6 | g.33440832T>A | CA363693289 | SYNGAP1,SYNGAP1-AS1 | c.1522T>A (p.Phe508Ile) c.1780T>A (p.Phe594Ile) c.*177T>A (n.*177T>A) c.1603T>A (p.Phe535Ile) c.1735T>A (p.Phe579Ile) n.330-3351A>T | |
6 | g.33440832T>C | CA363693293 | SYNGAP1,SYNGAP1-AS1 | c.1522T>C (p.Phe508Leu) c.1780T>C (p.Phe594Leu) c.*177T>C (n.*177T>C) c.1603T>C (p.Phe535Leu) c.1735T>C (p.Phe579Leu) n.330-3351A>G | |
6 | g.33440832T>G | CA363693291 | SYNGAP1,SYNGAP1-AS1 | c.1522T>G (p.Phe508Val) c.1780T>G (p.Phe594Val) c.*177T>G (n.*177T>G) c.1603T>G (p.Phe535Val) c.1735T>G (p.Phe579Val) n.330-3351A>C | |
6 | g.33440833dup | CA2695202069 | SYNGAP1,SYNGAP1-AS1 | c.1523dup (p.Leu509ProfsTer23) c.1781dup (p.Leu595ProfsTer23) c.*178dup (n.*178dup) c.1604dup (p.Leu536ProfsTer23) c.1736dup (p.Leu580ProfsTer23) n.330-3351dup | |
6 | g.33440833T>A | CA363693297 | SYNGAP1,SYNGAP1-AS1 | c.1523T>A (p.Phe508Tyr) c.1781T>A (p.Phe594Tyr) c.*178T>A (n.*178T>A) c.1604T>A (p.Phe535Tyr) c.1736T>A (p.Phe579Tyr) n.330-3352A>T | |
6 | g.33440833T>C | CA363693315 | SYNGAP1,SYNGAP1-AS1 | c.1523T>C (p.Phe508Ser) c.1781T>C (p.Phe594Ser) c.*178T>C (n.*178T>C) c.1604T>C (p.Phe535Ser) c.1736T>C (p.Phe579Ser) n.330-3352A>G | |
6 | g.33440833T>G | CA363693317 | SYNGAP1,SYNGAP1-AS1 | c.1523T>G (p.Phe508Cys) c.1781T>G (p.Phe594Cys) c.*178T>G (n.*178T>G) c.1604T>G (p.Phe535Cys) c.1736T>G (p.Phe579Cys) n.330-3352A>C | |
6 | g.33440833_33440834delinsTC | CA1620013541 | SYNGAP1,SYNGAP1-AS1 | c.1523_1524delinsTC (p.Phe508=) c.1781_1782delinsTC (p.Phe594=) c.*178_*179delinsTC (n.*178_*179delinsTC) c.1604_1605delinsTC (p.Phe535=) c.1736_1737delinsTC (p.Phe579=) n.330-3353_330-3352delinsGA | |
6 | g.33440834C>A | CA363693319 | SYNGAP1,SYNGAP1-AS1 | c.1524C>A (p.Phe508Leu) c.1782C>A (p.Phe594Leu) c.*179C>A (n.*179C>A) c.1605C>A (p.Phe535Leu) c.1737C>A (p.Phe579Leu) n.330-3353G>T | |
6 | g.33440834C>G | CA363693320 | SYNGAP1,SYNGAP1-AS1 | c.1524C>G (p.Phe508Leu) c.1782C>G (p.Phe594Leu) c.*179C>G (n.*179C>G) c.1605C>G (p.Phe535Leu) c.1737C>G (p.Phe579Leu) n.330-3353G>C | |
6 | g.33440834C>T | CA450108210 | SYNGAP1,SYNGAP1-AS1 | c.1524C>T (p.Phe508=) c.1782C>T (p.Phe594=) c.*179C>T (n.*179C>T) c.1605C>T (p.Phe535=) c.1737C>T (p.Phe579=) n.330-3353G>A | |
6 | g.33440835dup | CA2695202064 | SYNGAP1,SYNGAP1-AS1 | c.1525dup (p.Leu509ProfsTer23) c.1783dup (p.Leu595ProfsTer23) c.*180dup (n.*180dup) c.1606dup (p.Leu536ProfsTer23) c.1738dup (p.Leu580ProfsTer23) n.330-3353dup | |
6 | g.33440835del | CA155628 | SYNGAP1,SYNGAP1-AS1 | c.1525del (p.Leu509CysfsTer?) c.1783del (p.Leu595CysfsTer?) c.*180del (n.*180del) c.1606del (p.Leu536CysfsTer?) c.1738del (p.Leu580CysfsTer?) n.330-3353del | ClinVar dbSNP |
6 | g.33440835C>A | CA363693326 | SYNGAP1,SYNGAP1-AS1 | c.1525C>A (p.Leu509Met) c.1783C>A (p.Leu595Met) c.*180C>A (n.*180C>A) c.1606C>A (p.Leu536Met) c.1738C>A (p.Leu580Met) n.330-3354G>T | |
6 | g.33440835C= | CA1620013542 | SYNGAP1,SYNGAP1-AS1 | c.1525C= (p.Leu509=) c.1783C= (p.Leu595=) c.*180C= (n.*180C=) c.1606C= (p.Leu536=) c.1738C= (p.Leu580=) n.330-3354G= | |
6 | g.33440835C>G | CA363693328 | SYNGAP1,SYNGAP1-AS1 | c.1525C>G (p.Leu509Val) c.1783C>G (p.Leu595Val) c.*180C>G (n.*180C>G) c.1606C>G (p.Leu536Val) c.1738C>G (p.Leu580Val) n.330-3354G>C | |
6 | g.33440835C>T | CA3758709 | SYNGAP1,SYNGAP1-AS1 | c.1525C>T (p.Leu509=) c.1783C>T (p.Leu595=) c.*180C>T (n.*180C>T) c.1606C>T (p.Leu536=) c.1738C>T (p.Leu580=) n.330-3354G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.33440836T>A | CA363693344 | SYNGAP1,SYNGAP1-AS1 | c.1526T>A (p.Leu509Gln) c.1784T>A (p.Leu595Gln) c.*181T>A (n.*181T>A) c.1607T>A (p.Leu536Gln) c.1739T>A (p.Leu580Gln) n.330-3355A>T | ClinVar |
6 | g.33440836T>C | CA363693337 | SYNGAP1,SYNGAP1-AS1 | c.1526T>C (p.Leu509Pro) c.1784T>C (p.Leu595Pro) c.*181T>C (n.*181T>C) c.1607T>C (p.Leu536Pro) c.1739T>C (p.Leu580Pro) n.330-3355A>G | |
6 | g.33440836T>G | CA363693333 | SYNGAP1,SYNGAP1-AS1 | c.1526T>G (p.Leu509Arg) c.1784T>G (p.Leu595Arg) c.*181T>G (n.*181T>G) c.1607T>G (p.Leu536Arg) c.1739T>G (p.Leu580Arg) n.330-3355A>C | |
6 | g.33440837G>A | CA450108217 | SYNGAP1,SYNGAP1-AS1 | c.1527G>A (p.Leu509=) c.1785G>A (p.Leu595=) c.*182G>A (n.*182G>A) c.1608G>A (p.Leu536=) c.1740G>A (p.Leu580=) n.330-3356C>T | |
6 | g.33440837G>C | CA450108218 | SYNGAP1,SYNGAP1-AS1 | c.1527G>C (p.Leu509=) c.1785G>C (p.Leu595=) c.*182G>C (n.*182G>C) c.1608G>C (p.Leu536=) c.1740G>C (p.Leu580=) n.330-3356C>G | |
6 | g.33440837G>T | CA450108219 | SYNGAP1,SYNGAP1-AS1 | c.1527G>T (p.Leu509=) c.1785G>T (p.Leu595=) c.*182G>T (n.*182G>T) c.1608G>T (p.Leu536=) c.1740G>T (p.Leu580=) n.330-3356C>A | |
6 | g.33440838C>A | CA363693353 | SYNGAP1,SYNGAP1-AS1 | c.1528C>A (p.Arg510Ser) c.1786C>A (p.Arg596Ser) c.*183C>A (n.*183C>A) c.1609C>A (p.Arg537Ser) c.1741C>A (p.Arg581Ser) n.330-3357G>T | |
6 | g.33440838C= | CA1620013543 | SYNGAP1,SYNGAP1-AS1 | c.1528C= (p.Arg510=) c.1786C= (p.Arg596=) c.*183C= (n.*183C=) c.1609C= (p.Arg537=) c.1741C= (p.Arg581=) n.330-3357G= | |
6 | g.33440838C>G | CA363693349 | SYNGAP1,SYNGAP1-AS1 | c.1528C>G (p.Arg510Gly) c.1786C>G (p.Arg596Gly) c.*183C>G (n.*183C>G) c.1609C>G (p.Arg537Gly) c.1741C>G (p.Arg581Gly) n.330-3357G>C | |
6 | g.33440838C>T | CA3758710 | SYNGAP1,SYNGAP1-AS1 | c.1528C>T (p.Arg510Cys) c.1786C>T (p.Arg596Cys) c.*183C>T (n.*183C>T) c.1609C>T (p.Arg537Cys) c.1741C>T (p.Arg581Cys) n.330-3357G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.33440839G>A | CA3758711 | SYNGAP1,SYNGAP1-AS1 | c.1529G>A (p.Arg510His) c.1787G>A (p.Arg596His) c.*184G>A (n.*184G>A) c.1610G>A (p.Arg537His) c.1742G>A (p.Arg581His) n.330-3358C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.33440839G>C | CA363693356 | SYNGAP1,SYNGAP1-AS1 | c.1529G>C (p.Arg510Pro) c.1787G>C (p.Arg596Pro) c.*184G>C (n.*184G>C) c.1610G>C (p.Arg537Pro) c.1742G>C (p.Arg581Pro) n.330-3358C>G | |
6 | g.33440839G= | CA1620013544 | SYNGAP1,SYNGAP1-AS1 | c.1529G= (p.Arg510=) c.1787G= (p.Arg596=) c.*184G= (n.*184G=) c.1610G= (p.Arg537=) c.1742G= (p.Arg581=) n.330-3358C= | |
6 | g.33440839G>T | CA363693369 | SYNGAP1,SYNGAP1-AS1 | c.1529G>T (p.Arg510Leu) c.1787G>T (p.Arg596Leu) c.*184G>T (n.*184G>T) c.1610G>T (p.Arg537Leu) c.1742G>T (p.Arg581Leu) n.330-3358C>A | ClinVar |
6 | g.33440840C>A | CA450108223 | SYNGAP1,SYNGAP1-AS1 | c.1530C>A (p.Arg510=) c.1788C>A (p.Arg596=) c.*185C>A (n.*185C>A) c.1611C>A (p.Arg537=) c.1743C>A (p.Arg581=) n.330-3359G>T | |
6 | g.33440840C= | CA1620013545 | SYNGAP1,SYNGAP1-AS1 | c.1530C= (p.Arg510=) c.1788C= (p.Arg596=) c.*185C= (n.*185C=) c.1611C= (p.Arg537=) c.1743C= (p.Arg581=) n.330-3359G= | |
6 | g.33440840C>G | CA450108225 | SYNGAP1,SYNGAP1-AS1 | c.1530C>G (p.Arg510=) c.1788C>G (p.Arg596=) c.*185C>G (n.*185C>G) c.1611C>G (p.Arg537=) c.1743C>G (p.Arg581=) n.330-3359G>C | |
6 | g.33440840C>T | CA3758712 | SYNGAP1,SYNGAP1-AS1 | c.1530C>T (p.Arg510=) c.1788C>T (p.Arg596=) c.*185C>T (n.*185C>T) c.1611C>T (p.Arg537=) c.1743C>T (p.Arg581=) n.330-3359G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.33440841T>A | CA363693382 | SYNGAP1,SYNGAP1-AS1 | c.1531T>A (p.Phe511Ile) c.1789T>A (p.Phe597Ile) c.*186T>A (n.*186T>A) c.1612T>A (p.Phe538Ile) c.1744T>A (p.Phe582Ile) n.330-3360A>T | |
6 | g.33440841T>C | CA363693376 | SYNGAP1,SYNGAP1-AS1 | c.1531T>C (p.Phe511Leu) c.1789T>C (p.Phe597Leu) c.*186T>C (n.*186T>C) c.1612T>C (p.Phe538Leu) c.1744T>C (p.Phe582Leu) n.330-3360A>G | |
6 | g.33440841T>G | CA363693379 | SYNGAP1,SYNGAP1-AS1 | c.1531T>G (p.Phe511Val) c.1789T>G (p.Phe597Val) c.*186T>G (n.*186T>G) c.1612T>G (p.Phe538Val) c.1744T>G (p.Phe582Val) n.330-3360A>C | |
6 | g.33440842T>A | CA363693391 | SYNGAP1,SYNGAP1-AS1 | c.1532T>A (p.Phe511Tyr) c.1790T>A (p.Phe597Tyr) c.*187T>A (n.*187T>A) c.1613T>A (p.Phe538Tyr) c.1745T>A (p.Phe582Tyr) n.330-3361A>T | |
6 | g.33440842T>C | CA363693395 | SYNGAP1,SYNGAP1-AS1 | c.1532T>C (p.Phe511Ser) c.1790T>C (p.Phe597Ser) c.*187T>C (n.*187T>C) c.1613T>C (p.Phe538Ser) c.1745T>C (p.Phe582Ser) n.330-3361A>G | |
6 | g.33440842T>G | CA3758713 | SYNGAP1,SYNGAP1-AS1 | c.1532T>G (p.Phe511Cys) c.1790T>G (p.Phe597Cys) c.*187T>G (n.*187T>G) c.1613T>G (p.Phe538Cys) c.1745T>G (p.Phe582Cys) n.330-3361A>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.33440842T= | CA1620013546 | SYNGAP1,SYNGAP1-AS1 | c.1532T= (p.Phe511=) c.1790T= (p.Phe597=) c.*187T= (n.*187T=) c.1613T= (p.Phe538=) c.1745T= (p.Phe582=) n.330-3361A= | |
6 | g.33440842_33440843delinsTC | CA1620013547 | SYNGAP1,SYNGAP1-AS1 | c.1532_1533delinsTC (p.Phe511=) c.1790_1791delinsTC (p.Phe597=) c.*187_*188delinsTC (n.*187_*188delinsTC) c.1613_1614delinsTC (p.Phe538=) c.1745_1746delinsTC (p.Phe582=) n.330-3362_330-3361delinsGA | |
6 | g.33440843C>A | CA363693401 | SYNGAP1,SYNGAP1-AS1 | c.1533C>A (p.Phe511Leu) c.1791C>A (p.Phe597Leu) c.*188C>A (n.*188C>A) c.1614C>A (p.Phe538Leu) c.1746C>A (p.Phe582Leu) n.330-3362G>T | |
6 | g.33440843C>G | CA363693405 | SYNGAP1,SYNGAP1-AS1 | c.1533C>G (p.Phe511Leu) c.1791C>G (p.Phe597Leu) c.*188C>G (n.*188C>G) c.1614C>G (p.Phe538Leu) c.1746C>G (p.Phe582Leu) n.330-3362G>C | |
6 | g.33440843C>T | CA450108230 | SYNGAP1,SYNGAP1-AS1 | c.1533C>T (p.Phe511=) c.1791C>T (p.Phe597=) c.*188C>T (n.*188C>T) c.1614C>T (p.Phe538=) c.1746C>T (p.Phe582=) n.330-3362G>A | |
6 | g.33440844del | CA645369392 | SYNGAP1,SYNGAP1-AS1 | c.1534del (p.Leu512SerfsTer?) c.1792del (p.Leu598SerfsTer?) c.*189del (n.*189del) c.1615del (p.Leu539SerfsTer?) c.1747del (p.Leu583SerfsTer?) n.330-3362del | ClinVar dbSNP |
6 | g.33440844C>A | CA363693409 | SYNGAP1,SYNGAP1-AS1 | c.1534C>A (p.Leu512Ile) c.1792C>A (p.Leu598Ile) c.*189C>A (n.*189C>A) c.1615C>A (p.Leu539Ile) c.1747C>A (p.Leu583Ile) n.330-3363G>T | |
6 | g.33440844C>G | CA363693415 | SYNGAP1,SYNGAP1-AS1 | c.1534C>G (p.Leu512Val) c.1792C>G (p.Leu598Val) c.*189C>G (n.*189C>G) c.1615C>G (p.Leu539Val) c.1747C>G (p.Leu583Val) n.330-3363G>C | ClinVar |
6 | g.33440844C>T | CA363693413 | SYNGAP1,SYNGAP1-AS1 | c.1534C>T (p.Leu512Phe) c.1792C>T (p.Leu598Phe) c.*189C>T (n.*189C>T) c.1615C>T (p.Leu539Phe) c.1747C>T (p.Leu583Phe) n.330-3363G>A | |
6 | g.33440845T>A | CA363693417 | SYNGAP1,SYNGAP1-AS1 | c.1535T>A (p.Leu512His) c.1793T>A (p.Leu598His) c.*190T>A (n.*190T>A) c.1616T>A (p.Leu539His) c.1748T>A (p.Leu583His) n.330-3364A>T | |
6 | g.33440845T>C | CA363693419 | SYNGAP1,SYNGAP1-AS1 | c.1535T>C (p.Leu512Pro) c.1793T>C (p.Leu598Pro) c.*190T>C (n.*190T>C) c.1616T>C (p.Leu539Pro) c.1748T>C (p.Leu583Pro) n.330-3364A>G | |
6 | g.33440845T>G | CA363693421 | SYNGAP1,SYNGAP1-AS1 | c.1535T>G (p.Leu512Arg) c.1793T>G (p.Leu598Arg) c.*190T>G (n.*190T>G) c.1616T>G (p.Leu539Arg) c.1748T>G (p.Leu583Arg) n.330-3364A>C | |
6 | g.33440846C>A | CA450108232 | SYNGAP1,SYNGAP1-AS1 | c.1536C>A (p.Leu512=) c.1794C>A (p.Leu598=) c.*191C>A (n.*191C>A) c.1617C>A (p.Leu539=) c.1749C>A (p.Leu583=) n.330-3365G>T | |
6 | g.33440846C>G | CA450108233 | SYNGAP1,SYNGAP1-AS1 | c.1536C>G (p.Leu512=) c.1794C>G (p.Leu598=) c.*191C>G (n.*191C>G) c.1617C>G (p.Leu539=) c.1749C>G (p.Leu583=) n.330-3365G>C | |
6 | g.33440846C>T | CA450108234 | SYNGAP1,SYNGAP1-AS1 | c.1536C>T (p.Leu512=) c.1794C>T (p.Leu598=) c.*191C>T (n.*191C>T) c.1617C>T (p.Leu539=) c.1749C>T (p.Leu583=) n.330-3365G>A | |
6 | g.33440847T>A | CA363693425 | SYNGAP1,SYNGAP1-AS1 | c.1537T>A (p.Cys513Ser) c.1795T>A (p.Cys599Ser) c.*192T>A (n.*192T>A) c.1618T>A (p.Cys540Ser) c.1750T>A (p.Cys584Ser) n.330-3366A>T | |
6 | g.33440847T>C | CA363693428 | SYNGAP1,SYNGAP1-AS1 | c.1537T>C (p.Cys513Arg) c.1795T>C (p.Cys599Arg) c.*192T>C (n.*192T>C) c.1618T>C (p.Cys540Arg) c.1750T>C (p.Cys584Arg) n.330-3366A>G | |
6 | g.33440847T>G | CA363693436 | SYNGAP1,SYNGAP1-AS1 | c.1537T>G (p.Cys513Gly) c.1795T>G (p.Cys599Gly) c.*192T>G (n.*192T>G) c.1618T>G (p.Cys540Gly) c.1750T>G (p.Cys584Gly) n.330-3366A>C | |
6 | g.33440848G>A | CA363693440 | SYNGAP1,SYNGAP1-AS1 | c.1538G>A (p.Cys513Tyr) c.1796G>A (p.Cys599Tyr) c.*193G>A (n.*193G>A) c.1619G>A (p.Cys540Tyr) c.1751G>A (p.Cys584Tyr) n.330-3367C>T | |
6 | g.33440848G>C | CA363693443 | SYNGAP1,SYNGAP1-AS1 | c.1538G>C (p.Cys513Ser) c.1796G>C (p.Cys599Ser) c.*193G>C (n.*193G>C) c.1619G>C (p.Cys540Ser) c.1751G>C (p.Cys584Ser) n.330-3367C>G | |
6 | g.33440848G>T | CA363693447 | SYNGAP1,SYNGAP1-AS1 | c.1538G>T (p.Cys513Phe) c.1796G>T (p.Cys599Phe) c.*193G>T (n.*193G>T) c.1619G>T (p.Cys540Phe) c.1751G>T (p.Cys584Phe) n.330-3367C>A | |
6 | g.33440849C>A | CA363693451 | SYNGAP1,SYNGAP1-AS1 | c.1539C>A (p.Cys513Ter) c.1797C>A (p.Cys599Ter) c.*194C>A (n.*194C>A) c.1620C>A (p.Cys540Ter) c.1752C>A (p.Cys584Ter) n.330-3368G>T | dbSNP |
6 | g.33440849C= | CA1620013548 | SYNGAP1,SYNGAP1-AS1 | c.1539C= (p.Cys513=) c.1797C= (p.Cys599=) c.*194C= (n.*194C=) c.1620C= (p.Cys540=) c.1752C= (p.Cys584=) n.330-3368G= | |
6 | g.33440849C>G | CA363693453 | SYNGAP1,SYNGAP1-AS1 | c.1539C>G (p.Cys513Trp) c.1797C>G (p.Cys599Trp) c.*194C>G (n.*194C>G) c.1620C>G (p.Cys540Trp) c.1752C>G (p.Cys584Trp) n.330-3368G>C | |
6 | g.33440849C>T | CA450108235 | SYNGAP1,SYNGAP1-AS1 | c.1539C>T (p.Cys513=) c.1797C>T (p.Cys599=) c.*194C>T (n.*194C>T) c.1620C>T (p.Cys540=) c.1752C>T (p.Cys584=) n.330-3368G>A | |
6 | g.33440850C>A | CA363693463 | SYNGAP1,SYNGAP1-AS1 | c.1540C>A (p.Pro514Thr) c.1798C>A (p.Pro600Thr) c.*195C>A (n.*195C>A) c.1621C>A (p.Pro541Thr) c.1753C>A (p.Pro585Thr) n.330-3369G>T | |
6 | g.33440850C>G | CA363693466 | SYNGAP1,SYNGAP1-AS1 | c.1540C>G (p.Pro514Ala) c.1798C>G (p.Pro600Ala) c.*195C>G (n.*195C>G) c.1621C>G (p.Pro541Ala) c.1753C>G (p.Pro585Ala) n.330-3369G>C | |
6 | g.33440850C>T | CA363693460 | SYNGAP1,SYNGAP1-AS1 | c.1540C>T (p.Pro514Ser) c.1798C>T (p.Pro600Ser) c.*195C>T (n.*195C>T) c.1621C>T (p.Pro541Ser) c.1753C>T (p.Pro585Ser) n.330-3369G>A | |
6 | g.33440851C>A | CA363693470 | SYNGAP1,SYNGAP1-AS1 | c.1541C>A (p.Pro514Gln) c.1799C>A (p.Pro600Gln) c.*196C>A (n.*196C>A) c.1622C>A (p.Pro541Gln) c.1754C>A (p.Pro585Gln) n.330-3370G>T | |
6 | g.33440851C>G | CA363693474 | SYNGAP1,SYNGAP1-AS1 | c.1541C>G (p.Pro514Arg) c.1799C>G (p.Pro600Arg) c.*196C>G (n.*196C>G) c.1622C>G (p.Pro541Arg) c.1754C>G (p.Pro585Arg) n.330-3370G>C | |
6 | g.33440851C>T | CA363693483 | SYNGAP1,SYNGAP1-AS1 | c.1541C>T (p.Pro514Leu) c.1799C>T (p.Pro600Leu) c.*196C>T (n.*196C>T) c.1622C>T (p.Pro541Leu) c.1754C>T (p.Pro585Leu) n.330-3370G>A | |
6 | g.33440852A>C | CA450108236 | SYNGAP1,SYNGAP1-AS1 | c.1542A>C (p.Pro514=) c.1800A>C (p.Pro600=) c.*197A>C (n.*197A>C) c.1623A>C (p.Pro541=) c.1755A>C (p.Pro585=) n.330-3371T>G | |
6 | g.33440852A>G | CA450108237 | SYNGAP1,SYNGAP1-AS1 | c.1542A>G (p.Pro514=) c.1800A>G (p.Pro600=) c.*197A>G (n.*197A>G) c.1623A>G (p.Pro541=) c.1755A>G (p.Pro585=) n.330-3371T>C | gnomAD v4 |
6 | g.33440852A>T | CA450108238 | SYNGAP1,SYNGAP1-AS1 | c.1542A>T (p.Pro514=) c.1800A>T (p.Pro600=) c.*197A>T (n.*197A>T) c.1623A>T (p.Pro541=) c.1755A>T (p.Pro585=) n.330-3371T>A | |
6 | g.33440853G>A | CA363693487 | SYNGAP1,SYNGAP1-AS1 | c.1543G>A (p.Ala515Thr) c.1801G>A (p.Ala601Thr) c.*198G>A (n.*198G>A) c.1624G>A (p.Ala542Thr) c.1756G>A (p.Ala586Thr) n.330-3372C>T | |
6 | g.33440853G>C | CA363693501 | SYNGAP1,SYNGAP1-AS1 | c.1543G>C (p.Ala515Pro) c.1801G>C (p.Ala601Pro) c.*198G>C (n.*198G>C) c.1624G>C (p.Ala542Pro) c.1756G>C (p.Ala586Pro) n.330-3372C>G | |
6 | g.33440853G>T | CA363693504 | SYNGAP1,SYNGAP1-AS1 | c.1543G>T (p.Ala515Ser) c.1801G>T (p.Ala601Ser) c.*198G>T (n.*198G>T) c.1624G>T (p.Ala542Ser) c.1756G>T (p.Ala586Ser) n.330-3372C>A | |
6 | g.33440854C>A | CA363693508 | SYNGAP1,SYNGAP1-AS1 | c.1544C>A (p.Ala515Glu) c.1802C>A (p.Ala601Glu) c.*199C>A (n.*199C>A) c.1625C>A (p.Ala542Glu) c.1757C>A (p.Ala586Glu) n.330-3373G>T | ClinVar dbSNP |
6 | g.33440854C= | CA1620013549 | SYNGAP1,SYNGAP1-AS1 | c.1544C= (p.Ala515=) c.1802C= (p.Ala601=) c.*199C= (n.*199C=) c.1625C= (p.Ala542=) c.1757C= (p.Ala586=) n.330-3373G= | |
6 | g.33440854C>G | CA363693518 | SYNGAP1,SYNGAP1-AS1 | c.1544C>G (p.Ala515Gly) c.1802C>G (p.Ala601Gly) c.*199C>G (n.*199C>G) c.1625C>G (p.Ala542Gly) c.1757C>G (p.Ala586Gly) n.330-3373G>C | gnomAD v4 |
6 | g.33440854C>T | CA363693521 | SYNGAP1,SYNGAP1-AS1 | c.1544C>T (p.Ala515Val) c.1802C>T (p.Ala601Val) c.*199C>T (n.*199C>T) c.1625C>T (p.Ala542Val) c.1757C>T (p.Ala586Val) n.330-3373G>A | ClinVar dbSNP |
6 | g.33440855G>A | CA3758714 | SYNGAP1,SYNGAP1-AS1 | c.1545G>A (p.Ala515=) c.1803G>A (p.Ala601=) c.*200G>A (n.*200G>A) c.1626G>A (p.Ala542=) c.1758G>A (p.Ala586=) n.330-3374C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
6 | g.33440855G>C | CA450108239 | SYNGAP1,SYNGAP1-AS1 | c.1545G>C (p.Ala515=) c.1803G>C (p.Ala601=) c.*200G>C (n.*200G>C) c.1626G>C (p.Ala542=) c.1758G>C (p.Ala586=) n.330-3374C>G | |
6 | g.33440855G= | CA1620013550 | SYNGAP1,SYNGAP1-AS1 | c.1545G= (p.Ala515=) c.1803G= (p.Ala601=) c.*200G= (n.*200G=) c.1626G= (p.Ala542=) c.1758G= (p.Ala586=) n.330-3374C= | |
6 | g.33440855G>T | CA450108240 | SYNGAP1,SYNGAP1-AS1 | c.1545G>T (p.Ala515=) c.1803G>T (p.Ala601=) c.*200G>T (n.*200G>T) c.1626G>T (p.Ala542=) c.1758G>T (p.Ala586=) n.330-3374C>A | ClinVar |
6 | g.33440856A>C | CA363693528 | SYNGAP1,SYNGAP1-AS1 | c.1546A>C (p.Ile516Leu) c.1804A>C (p.Ile602Leu) c.*201A>C (n.*201A>C) c.1627A>C (p.Ile543Leu) c.1759A>C (p.Ile587Leu) n.330-3375T>G | |
6 | g.33440856A>G | CA363693530 | SYNGAP1,SYNGAP1-AS1 | c.1546A>G (p.Ile516Val) c.1804A>G (p.Ile602Val) c.*201A>G (n.*201A>G) c.1627A>G (p.Ile543Val) c.1759A>G (p.Ile587Val) n.330-3375T>C | |
6 | g.33440856A>T | CA363693532 | SYNGAP1,SYNGAP1-AS1 | c.1546A>T (p.Ile516Phe) c.1804A>T (p.Ile602Phe) c.*201A>T (n.*201A>T) c.1627A>T (p.Ile543Phe) c.1759A>T (p.Ile587Phe) n.330-3375T>A | |
6 | g.33440857T>A | CA363693535 | SYNGAP1,SYNGAP1-AS1 | c.1547T>A (p.Ile516Asn) c.1805T>A (p.Ile602Asn) c.*202T>A (n.*202T>A) c.1628T>A (p.Ile543Asn) c.1760T>A (p.Ile587Asn) n.330-3376A>T | |
6 | g.33440857T>C | CA363693534 | SYNGAP1,SYNGAP1-AS1 | c.1547T>C (p.Ile516Thr) c.1805T>C (p.Ile602Thr) c.*202T>C (n.*202T>C) c.1628T>C (p.Ile543Thr) c.1760T>C (p.Ile587Thr) n.330-3376A>G | |
6 | g.33440857T>G | CA363693533 | SYNGAP1,SYNGAP1-AS1 | c.1547T>G (p.Ile516Ser) c.1805T>G (p.Ile602Ser) c.*202T>G (n.*202T>G) c.1628T>G (p.Ile543Ser) c.1760T>G (p.Ile587Ser) n.330-3376A>C | |
6 | g.33440858T>A | CA450108241 | SYNGAP1,SYNGAP1-AS1 | c.1548T>A (p.Ile516=) c.1806T>A (p.Ile602=) c.*203T>A (n.*203T>A) c.1629T>A (p.Ile543=) c.1761T>A (p.Ile587=) n.330-3377A>T | |
6 | g.33440858T>C | CA450108242 | SYNGAP1,SYNGAP1-AS1 | c.1548T>C (p.Ile516=) c.1806T>C (p.Ile602=) c.*203T>C (n.*203T>C) c.1629T>C (p.Ile543=) c.1761T>C (p.Ile587=) n.330-3377A>G | |
6 | g.33440858T>G | CA363693536 | SYNGAP1,SYNGAP1-AS1 | c.1548T>G (p.Ile516Met) c.1806T>G (p.Ile602Met) c.*203T>G (n.*203T>G) c.1629T>G (p.Ile543Met) c.1761T>G (p.Ile587Met) n.330-3377A>C | |
6 | g.33440859A>C | CA363693538 | SYNGAP1,SYNGAP1-AS1 | c.1549A>C (p.Met517Leu) c.1807A>C (p.Met603Leu) c.*204A>C (n.*204A>C) c.1630A>C (p.Met544Leu) c.1762A>C (p.Met588Leu) n.330-3378T>G | |
6 | g.33440859A>G | CA363693539 | SYNGAP1,SYNGAP1-AS1 | c.1549A>G (p.Met517Val) c.1807A>G (p.Met603Val) c.*204A>G (n.*204A>G) c.1630A>G (p.Met544Val) c.1762A>G (p.Met588Val) n.330-3378T>C | |
6 | g.33440859A>T | CA363693540 | SYNGAP1,SYNGAP1-AS1 | c.1549A>T (p.Met517Leu) c.1807A>T (p.Met603Leu) c.*204A>T (n.*204A>T) c.1630A>T (p.Met544Leu) c.1762A>T (p.Met588Leu) n.330-3378T>A | |
6 | g.33440860T>A | CA363693543 | SYNGAP1,SYNGAP1-AS1 | c.1550T>A (p.Met517Lys) c.1808T>A (p.Met603Lys) c.*205T>A (n.*205T>A) c.1631T>A (p.Met544Lys) c.1763T>A (p.Met588Lys) n.330-3379A>T | |
6 | g.33440860T>C | CA363693544 | SYNGAP1,SYNGAP1-AS1 | c.1550T>C (p.Met517Thr) c.1808T>C (p.Met603Thr) c.*205T>C (n.*205T>C) c.1631T>C (p.Met544Thr) c.1763T>C (p.Met588Thr) n.330-3379A>G | |
6 | g.33440860T>G | CA363693546 | SYNGAP1,SYNGAP1-AS1 | c.1550T>G (p.Met517Arg) c.1808T>G (p.Met603Arg) c.*205T>G (n.*205T>G) c.1631T>G (p.Met544Arg) c.1763T>G (p.Met588Arg) n.330-3379A>C | |
6 | g.33440861G>A | CA363693549 | SYNGAP1,SYNGAP1-AS1 | c.1551G>A (p.Met517Ile) c.1809G>A (p.Met603Ile) c.*206G>A (n.*206G>A) c.1632G>A (p.Met544Ile) c.1764G>A (p.Met588Ile) n.330-3380C>T | |
6 | g.33440861G>C | CA363693559 | SYNGAP1,SYNGAP1-AS1 | c.1551G>C (p.Met517Ile) c.1809G>C (p.Met603Ile) c.*206G>C (n.*206G>C) c.1632G>C (p.Met544Ile) c.1764G>C (p.Met588Ile) n.330-3380C>G | |
6 | g.33440861G>T | CA363693563 | SYNGAP1,SYNGAP1-AS1 | c.1551G>T (p.Met517Ile) c.1809G>T (p.Met603Ile) c.*206G>T (n.*206G>T) c.1632G>T (p.Met544Ile) c.1764G>T (p.Met588Ile) n.330-3380C>A | |
6 | g.33440862T>A | CA363693567 | SYNGAP1,SYNGAP1-AS1 | c.1552T>A (p.Ser518Thr) c.1810T>A (p.Ser604Thr) c.*207T>A (n.*207T>A) c.1633T>A (p.Ser545Thr) c.1765T>A (p.Ser589Thr) n.330-3381A>T | |
6 | g.33440862T>C | CA363693571 | SYNGAP1,SYNGAP1-AS1 | c.1552T>C (p.Ser518Pro) c.1810T>C (p.Ser604Pro) c.*207T>C (n.*207T>C) c.1633T>C (p.Ser545Pro) c.1765T>C (p.Ser589Pro) n.330-3381A>G | |
6 | g.33440862T>G | CA363693572 | SYNGAP1,SYNGAP1-AS1 | c.1552T>G (p.Ser518Ala) c.1810T>G (p.Ser604Ala) c.*207T>G (n.*207T>G) c.1633T>G (p.Ser545Ala) c.1765T>G (p.Ser589Ala) n.330-3381A>C | |
6 | g.33440863C>A | CA363693574 | SYNGAP1,SYNGAP1-AS1 | c.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 |
6 | g.33440863C= | CA1620013551 | SYNGAP1,SYNGAP1-AS1 | c.1553C= (p.Ser518=) c.1811C= (p.Ser604=) c.*208C= (n.*208C=) c.1634C= (p.Ser545=) c.1766C= (p.Ser589=) n.330-3382G= | |
6 | g.33440863C>G | CA363693575 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440863C>T | CA363693573 | SYNGAP1,SYNGAP1-AS1 | c.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 |
6 | g.33440864G>A | CA3758715 | SYNGAP1,SYNGAP1-AS1 | c.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 |
6 | g.33440864G>C | CA450108246 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440864G= | CA1620013552 | SYNGAP1,SYNGAP1-AS1 | c.1554G= (p.Ser518=) c.1812G= (p.Ser604=) c.*209G= (n.*209G=) c.1635G= (p.Ser545=) c.1767G= (p.Ser589=) n.330-3383C= | |
6 | g.33440864G>T | CA450108247 | SYNGAP1,SYNGAP1-AS1 | c.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 |
6 | g.33440865C>A | CA363693582 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440865C>G | CA363693585 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440865C>T | CA363693588 | SYNGAP1,SYNGAP1-AS1 | c.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 |
6 | g.33440866C>A | CA363693591 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440866C= | CA1620013553 | SYNGAP1,SYNGAP1-AS1 | c.1556C= (p.Pro519=) c.1814C= (p.Pro605=) c.*211C= (n.*211C=) c.1637C= (p.Pro546=) c.1769C= (p.Pro590=) n.330-3385G= | |
6 | g.33440866C>G | CA363693594 | SYNGAP1,SYNGAP1-AS1 | c.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 |
6 | g.33440866C>T | CA363693595 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440867C>A | CA450108249 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440867C>G | CA450108250 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
6 | g.33440867C>T | CA450108251 | SYNGAP1,SYNGAP1-AS1 | c.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 | |
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 |