WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.33440768G>A | CA16042674 | SYNGAP1,SYNGAP1-AS1 | c.1458G>A (p.Trp486Ter) c.1716G>A (p.Trp572Ter) c.*113G>A (n.*113G>A) c.1539G>A (p.Trp513Ter) c.1671G>A (p.Trp557Ter) n.330-3287C>T | ClinVar dbSNP |
| 6 | g.33440768G>C | CA363692750 | SYNGAP1,SYNGAP1-AS1 | c.1458G>C (p.Trp486Cys) c.1716G>C (p.Trp572Cys) c.*113G>C (n.*113G>C) c.1539G>C (p.Trp513Cys) c.1671G>C (p.Trp557Cys) n.330-3287C>G | |
| 6 | g.33440768G= | CA1620013507 | SYNGAP1,SYNGAP1-AS1 | c.1458G= (p.Trp486=) c.1716G= (p.Trp572=) c.*113G= (n.*113G=) c.1539G= (p.Trp513=) c.1671G= (p.Trp557=) n.330-3287C= | |
| 6 | g.33440768G>T | CA363692747 | SYNGAP1,SYNGAP1-AS1 | c.1458G>T (p.Trp486Cys) c.1716G>T (p.Trp572Cys) c.*113G>T (n.*113G>T) c.1539G>T (p.Trp513Cys) c.1671G>T (p.Trp557Cys) n.330-3287C>A | |
| 6 | g.33440769C>A | CA450107860 | SYNGAP1,SYNGAP1-AS1 | c.1459C>A (p.Arg487=) c.1717C>A (p.Arg573=) c.*114C>A (n.*114C>A) c.1540C>A (p.Arg514=) c.1672C>A (p.Arg558=) n.330-3288G>T | ClinVar gnomAD v4 |
| 6 | g.33440769C= | CA1620013508 | SYNGAP1,SYNGAP1-AS1 | c.1459C= (p.Arg487=) c.1717C= (p.Arg573=) c.*114C= (n.*114C=) c.1540C= (p.Arg514=) c.1672C= (p.Arg558=) n.330-3288G= | |
| 6 | g.33440769C>G | CA363692753 | SYNGAP1,SYNGAP1-AS1 | c.1459C>G (p.Arg487Gly) c.1717C>G (p.Arg573Gly) c.*114C>G (n.*114C>G) c.1540C>G (p.Arg514Gly) c.1672C>G (p.Arg558Gly) n.330-3288G>C | |
| 6 | g.33440769C>T | CA16618280 | SYNGAP1,SYNGAP1-AS1 | c.1459C>T (p.Arg487Trp) c.1717C>T (p.Arg573Trp) c.*114C>T (n.*114C>T) c.1540C>T (p.Arg514Trp) c.1672C>T (p.Arg558Trp) n.330-3288G>A | ClinVar dbSNP COSMIC COSMIC |
| 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 |