| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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 | |
| 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 |