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 |
|---|---|---|---|---|---|
| 3 | g.38551131C>A | CA433332225 | SCN5A | c.5238G>T (p.Val1746=) c.5241G>T (p.Val1747=) c.5187G>T (p.Val1729=) c.5079G>T (p.Val1693=) c.5142G>T (p.Val1714=) c.5112G>T (p.Val1704=) c.5184G>T (p.Val1728=) | gnomAD v4 |
| 3 | g.38551131C>G | CA433332228 | SCN5A | c.5238G>C (p.Val1746=) c.5241G>C (p.Val1747=) c.5187G>C (p.Val1729=) c.5079G>C (p.Val1693=) c.5142G>C (p.Val1714=) c.5112G>C (p.Val1704=) c.5184G>C (p.Val1728=) | |
| 3 | g.38551131C>T | CA433332227 | SCN5A | c.5238G>A (p.Val1746=) c.5241G>A (p.Val1747=) c.5187G>A (p.Val1729=) c.5079G>A (p.Val1693=) c.5142G>A (p.Val1714=) c.5112G>A (p.Val1704=) c.5184G>A (p.Val1728=) | ClinVar gnomAD v4 |
| 3 | g.38551132A= | CA1358557390 | SCN5A | c.5237T= (p.Val1746=) c.5240T= (p.Val1747=) c.5186T= (p.Val1729=) c.5078T= (p.Val1693=) c.5141T= (p.Val1714=) c.5111T= (p.Val1704=) c.5183T= (p.Val1728=) | |
| 3 | g.38551132A>C | CA352141820 | SCN5A | c.5237T>G (p.Val1746Gly) c.5240T>G (p.Val1747Gly) c.5186T>G (p.Val1729Gly) c.5078T>G (p.Val1693Gly) c.5141T>G (p.Val1714Gly) c.5111T>G (p.Val1704Gly) c.5183T>G (p.Val1728Gly) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38551132A>G | CA352141822 | SCN5A | c.5237T>C (p.Val1746Ala) c.5240T>C (p.Val1747Ala) c.5186T>C (p.Val1729Ala) c.5078T>C (p.Val1693Ala) c.5141T>C (p.Val1714Ala) c.5111T>C (p.Val1704Ala) c.5183T>C (p.Val1728Ala) | |
| 3 | g.38551132A>T | CA352141823 | SCN5A | c.5237T>A (p.Val1746Glu) c.5240T>A (p.Val1747Glu) c.5186T>A (p.Val1729Glu) c.5078T>A (p.Val1693Glu) c.5141T>A (p.Val1714Glu) c.5111T>A (p.Val1704Glu) c.5183T>A (p.Val1728Glu) | |
| 3 | g.38551133C>A | CA352141826 | SCN5A | c.5236G>T (p.Val1746Leu) c.5239G>T (p.Val1747Leu) c.5185G>T (p.Val1729Leu) c.5077G>T (p.Val1693Leu) c.5140G>T (p.Val1714Leu) c.5110G>T (p.Val1704Leu) c.5182G>T (p.Val1728Leu) | ClinVar dbSNP |
| 3 | g.38551133C= | CA1358557394 | SCN5A | c.5236G= (p.Val1746=) c.5239G= (p.Val1747=) c.5185G= (p.Val1729=) c.5077G= (p.Val1693=) c.5140G= (p.Val1714=) c.5110G= (p.Val1704=) c.5182G= (p.Val1728=) | |
| 3 | g.38551133C>G | CA352141828 | SCN5A | c.5236G>C (p.Val1746Leu) c.5239G>C (p.Val1747Leu) c.5185G>C (p.Val1729Leu) c.5077G>C (p.Val1693Leu) c.5140G>C (p.Val1714Leu) c.5110G>C (p.Val1704Leu) c.5182G>C (p.Val1728Leu) | gnomAD v4 |
| 3 | g.38551133C>T | CA019040 | SCN5A | c.5236G>A (p.Val1746Met) c.5239G>A (p.Val1747Met) c.5185G>A (p.Val1729Met) c.5077G>A (p.Val1693Met) c.5140G>A (p.Val1714Met) c.5110G>A (p.Val1704Met) c.5182G>A (p.Val1728Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.38551134G>A | CA433332238 | SCN5A | c.5235C>T (p.Ala1745=) c.5238C>T (p.Ala1746=) c.5184C>T (p.Ala1728=) c.5076C>T (p.Ala1692=) c.5139C>T (p.Ala1713=) c.5109C>T (p.Ala1703=) c.5181C>T (p.Ala1727=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38551134G>C | CA433332239 | SCN5A | c.5235C>G (p.Ala1745=) c.5238C>G (p.Ala1746=) c.5184C>G (p.Ala1728=) c.5076C>G (p.Ala1692=) c.5139C>G (p.Ala1713=) c.5109C>G (p.Ala1703=) c.5181C>G (p.Ala1727=) | |
| 3 | g.38551134G= | CA1358557400 | SCN5A | c.5235C= (p.Ala1745=) c.5238C= (p.Ala1746=) c.5184C= (p.Ala1728=) c.5076C= (p.Ala1692=) c.5139C= (p.Ala1713=) c.5109C= (p.Ala1703=) c.5181C= (p.Ala1727=) | |
| 3 | g.38551134G>T | CA433332240 | SCN5A | c.5235C>A (p.Ala1745=) c.5238C>A (p.Ala1746=) c.5184C>A (p.Ala1728=) c.5076C>A (p.Ala1692=) c.5139C>A (p.Ala1713=) c.5109C>A (p.Ala1703=) c.5181C>A (p.Ala1727=) | |
| 3 | g.38551135G>A | CA064275 | SCN5A | c.5234C>T (p.Ala1745Val) c.5237C>T (p.Ala1746Val) c.5183C>T (p.Ala1728Val) c.5075C>T (p.Ala1692Val) c.5138C>T (p.Ala1713Val) c.5108C>T (p.Ala1703Val) c.5180C>T (p.Ala1727Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38551135G>C | CA352141832 | SCN5A | c.5234C>G (p.Ala1745Gly) c.5237C>G (p.Ala1746Gly) c.5183C>G (p.Ala1728Gly) c.5075C>G (p.Ala1692Gly) c.5138C>G (p.Ala1713Gly) c.5108C>G (p.Ala1703Gly) c.5180C>G (p.Ala1727Gly) | |
| 3 | g.38551135G= | CA1358557404 | SCN5A | c.5234C= (p.Ala1745=) c.5237C= (p.Ala1746=) c.5183C= (p.Ala1728=) c.5075C= (p.Ala1692=) c.5138C= (p.Ala1713=) c.5108C= (p.Ala1703=) c.5180C= (p.Ala1727=) | |
| 3 | g.38551135G>T | CA352141833 | SCN5A | c.5234C>A (p.Ala1745Asp) c.5237C>A (p.Ala1746Asp) c.5183C>A (p.Ala1728Asp) c.5075C>A (p.Ala1692Asp) c.5138C>A (p.Ala1713Asp) c.5108C>A (p.Ala1703Asp) c.5180C>A (p.Ala1727Asp) | |
| 3 | g.38551136C>A | CA352141836 | SCN5A | c.5233G>T (p.Ala1745Ser) c.5236G>T (p.Ala1746Ser) c.5182G>T (p.Ala1728Ser) c.5074G>T (p.Ala1692Ser) c.5137G>T (p.Ala1713Ser) c.5107G>T (p.Ala1703Ser) c.5179G>T (p.Ala1727Ser) | |
| 3 | g.38551136C= | CA1358557415 | SCN5A | c.5233G= (p.Ala1745=) c.5236G= (p.Ala1746=) c.5182G= (p.Ala1728=) c.5074G= (p.Ala1692=) c.5137G= (p.Ala1713=) c.5107G= (p.Ala1703=) c.5179G= (p.Ala1727=) | |
| 3 | g.38551136C>G | CA352141837 | SCN5A | c.5233G>C (p.Ala1745Pro) c.5236G>C (p.Ala1746Pro) c.5182G>C (p.Ala1728Pro) c.5074G>C (p.Ala1692Pro) c.5137G>C (p.Ala1713Pro) c.5107G>C (p.Ala1703Pro) c.5179G>C (p.Ala1727Pro) | ClinVar dbSNP |
| 3 | g.38551136C>T | CA019035 | SCN5A | c.5233G>A (p.Ala1745Thr) c.5236G>A (p.Ala1746Thr) c.5182G>A (p.Ala1728Thr) c.5074G>A (p.Ala1692Thr) c.5137G>A (p.Ala1713Thr) c.5107G>A (p.Ala1703Thr) c.5179G>A (p.Ala1727Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38551137T>A | CA433332243 | SCN5A | c.5232A>T (p.Pro1744=) c.5235A>T (p.Pro1745=) c.5181A>T (p.Pro1727=) c.5073A>T (p.Pro1691=) c.5136A>T (p.Pro1712=) c.5106A>T (p.Pro1702=) c.5178A>T (p.Pro1726=) | ClinVar |
| 3 | g.38551137T>C | CA433332246 | SCN5A | c.5232A>G (p.Pro1744=) c.5235A>G (p.Pro1745=) c.5181A>G (p.Pro1727=) c.5073A>G (p.Pro1691=) c.5136A>G (p.Pro1712=) c.5106A>G (p.Pro1702=) c.5178A>G (p.Pro1726=) | |
| 3 | g.38551137T>G | CA433332249 | SCN5A | c.5232A>C (p.Pro1744=) c.5235A>C (p.Pro1745=) c.5181A>C (p.Pro1727=) c.5073A>C (p.Pro1691=) c.5136A>C (p.Pro1712=) c.5106A>C (p.Pro1702=) c.5178A>C (p.Pro1726=) | |
| 3 | g.38551138G>A | CA352141840 | SCN5A | c.5231C>T (p.Pro1744Leu) c.5234C>T (p.Pro1745Leu) c.5180C>T (p.Pro1727Leu) c.5072C>T (p.Pro1691Leu) c.5135C>T (p.Pro1712Leu) c.5105C>T (p.Pro1702Leu) c.5177C>T (p.Pro1726Leu) | |
| 3 | g.38551138G>C | CA352141843 | SCN5A | c.5231C>G (p.Pro1744Arg) c.5234C>G (p.Pro1745Arg) c.5180C>G (p.Pro1727Arg) c.5072C>G (p.Pro1691Arg) c.5135C>G (p.Pro1712Arg) c.5105C>G (p.Pro1702Arg) c.5177C>G (p.Pro1726Arg) | |
| 3 | g.38551138G>T | CA352141841 | SCN5A | c.5231C>A (p.Pro1744Gln) c.5234C>A (p.Pro1745Gln) c.5180C>A (p.Pro1727Gln) c.5072C>A (p.Pro1691Gln) c.5135C>A (p.Pro1712Gln) c.5105C>A (p.Pro1702Gln) c.5177C>A (p.Pro1726Gln) | |
| 3 | g.38551139G>A | CA352141846 | SCN5A | c.5230C>T (p.Pro1744Ser) c.5233C>T (p.Pro1745Ser) c.5179C>T (p.Pro1727Ser) c.5071C>T (p.Pro1691Ser) c.5134C>T (p.Pro1712Ser) c.5104C>T (p.Pro1702Ser) c.5176C>T (p.Pro1726Ser) | |
| 3 | g.38551139G>C | CA352141849 | SCN5A | c.5230C>G (p.Pro1744Ala) c.5233C>G (p.Pro1745Ala) c.5179C>G (p.Pro1727Ala) c.5071C>G (p.Pro1691Ala) c.5134C>G (p.Pro1712Ala) c.5104C>G (p.Pro1702Ala) c.5176C>G (p.Pro1726Ala) | ClinVar gnomAD v4 |
| 3 | g.38551139G>T | CA352141847 | SCN5A | c.5230C>A (p.Pro1744Thr) c.5233C>A (p.Pro1745Thr) c.5179C>A (p.Pro1727Thr) c.5071C>A (p.Pro1691Thr) c.5134C>A (p.Pro1712Thr) c.5104C>A (p.Pro1702Thr) c.5176C>A (p.Pro1726Thr) | |
| 3 | g.38551140G>A | CA433332253 | SCN5A | c.5229C>T (p.Ser1743=) c.5232C>T (p.Ser1744=) c.5178C>T (p.Ser1726=) c.5070C>T (p.Ser1690=) c.5133C>T (p.Ser1711=) c.5103C>T (p.Ser1701=) c.5175C>T (p.Ser1725=) | |
| 3 | g.38551140G>C | CA352141851 | SCN5A | c.5229C>G (p.Ser1743Arg) c.5232C>G (p.Ser1744Arg) c.5178C>G (p.Ser1726Arg) c.5070C>G (p.Ser1690Arg) c.5133C>G (p.Ser1711Arg) c.5103C>G (p.Ser1701Arg) c.5175C>G (p.Ser1725Arg) | |
| 3 | g.38551140G>T | CA352141852 | SCN5A | c.5229C>A (p.Ser1743Arg) c.5232C>A (p.Ser1744Arg) c.5178C>A (p.Ser1726Arg) c.5070C>A (p.Ser1690Arg) c.5133C>A (p.Ser1711Arg) c.5103C>A (p.Ser1701Arg) c.5175C>A (p.Ser1725Arg) | |
| 3 | g.38551141C>A | CA019029 | SCN5A | c.5228G>T (p.Ser1743Ile) c.5231G>T (p.Ser1744Ile) c.5177G>T (p.Ser1726Ile) c.5069G>T (p.Ser1690Ile) c.5132G>T (p.Ser1711Ile) c.5102G>T (p.Ser1701Ile) c.5174G>T (p.Ser1725Ile) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38551141C= | CA1358557422 | SCN5A | c.5228G= (p.Ser1743=) c.5231G= (p.Ser1744=) c.5177G= (p.Ser1726=) c.5069G= (p.Ser1690=) c.5132G= (p.Ser1711=) c.5102G= (p.Ser1701=) c.5174G= (p.Ser1725=) | |
| 3 | g.38551141C>G | CA352141856 | SCN5A | c.5228G>C (p.Ser1743Thr) c.5231G>C (p.Ser1744Thr) c.5177G>C (p.Ser1726Thr) c.5069G>C (p.Ser1690Thr) c.5132G>C (p.Ser1711Thr) c.5102G>C (p.Ser1701Thr) c.5174G>C (p.Ser1725Thr) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38551141C>T | CA352141857 | SCN5A | c.5228G>A (p.Ser1743Asn) c.5231G>A (p.Ser1744Asn) c.5177G>A (p.Ser1726Asn) c.5069G>A (p.Ser1690Asn) c.5132G>A (p.Ser1711Asn) c.5102G>A (p.Ser1701Asn) c.5174G>A (p.Ser1725Asn) | COSMIC COSMIC COSMIC |
| 3 | g.38551142T>A | CA352141860 | SCN5A | c.5227A>T (p.Ser1743Cys) c.5230A>T (p.Ser1744Cys) c.5176A>T (p.Ser1726Cys) c.5068A>T (p.Ser1690Cys) c.5131A>T (p.Ser1711Cys) c.5101A>T (p.Ser1701Cys) c.5173A>T (p.Ser1725Cys) | |
| 3 | g.38551142T>C | CA352141862 | SCN5A | c.5227A>G (p.Ser1743Gly) c.5230A>G (p.Ser1744Gly) c.5176A>G (p.Ser1726Gly) c.5068A>G (p.Ser1690Gly) c.5131A>G (p.Ser1711Gly) c.5101A>G (p.Ser1701Gly) c.5173A>G (p.Ser1725Gly) | |
| 3 | g.38551142T>G | CA352141863 | SCN5A | c.5227A>C (p.Ser1743Arg) c.5230A>C (p.Ser1744Arg) c.5176A>C (p.Ser1726Arg) c.5068A>C (p.Ser1690Arg) c.5131A>C (p.Ser1711Arg) c.5101A>C (p.Ser1701Arg) c.5173A>C (p.Ser1725Arg) | |
| 3 | g.38551143C>A | CA433332259 | SCN5A | c.5226G>T (p.Gly1742=) c.5229G>T (p.Gly1743=) c.5175G>T (p.Gly1725=) c.5067G>T (p.Gly1689=) c.5130G>T (p.Gly1710=) c.5100G>T (p.Gly1700=) c.5172G>T (p.Gly1724=) | dbSNP |
| 3 | g.38551143C= | CA1358557425 | SCN5A | c.5226G= (p.Gly1742=) c.5229G= (p.Gly1743=) c.5175G= (p.Gly1725=) c.5067G= (p.Gly1689=) c.5130G= (p.Gly1710=) c.5100G= (p.Gly1700=) c.5172G= (p.Gly1724=) | |
| 3 | g.38551143C>G | CA433332262 | SCN5A | c.5226G>C (p.Gly1742=) c.5229G>C (p.Gly1743=) c.5175G>C (p.Gly1725=) c.5067G>C (p.Gly1689=) c.5130G>C (p.Gly1710=) c.5100G>C (p.Gly1700=) c.5172G>C (p.Gly1724=) | gnomAD v4 |
| 3 | g.38551143C>T | CA72938028 | SCN5A | c.5226G>A (p.Gly1742=) c.5229G>A (p.Gly1743=) c.5175G>A (p.Gly1725=) c.5067G>A (p.Gly1689=) c.5130G>A (p.Gly1710=) c.5100G>A (p.Gly1700=) c.5172G>A (p.Gly1724=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38551144C>A | CA352141866 | SCN5A | c.5225G>T (p.Gly1742Val) c.5228G>T (p.Gly1743Val) c.5174G>T (p.Gly1725Val) c.5066G>T (p.Gly1689Val) c.5129G>T (p.Gly1710Val) c.5099G>T (p.Gly1700Val) c.5171G>T (p.Gly1724Val) | |
| 3 | g.38551144C= | CA1358557426 | SCN5A | c.5225G= (p.Gly1742=) c.5228G= (p.Gly1743=) c.5174G= (p.Gly1725=) c.5066G= (p.Gly1689=) c.5129G= (p.Gly1710=) c.5099G= (p.Gly1700=) c.5171G= (p.Gly1724=) | |
| 3 | g.38551144C>G | CA352141868 | SCN5A | c.5225G>C (p.Gly1742Ala) c.5228G>C (p.Gly1743Ala) c.5174G>C (p.Gly1725Ala) c.5066G>C (p.Gly1689Ala) c.5129G>C (p.Gly1710Ala) c.5099G>C (p.Gly1700Ala) c.5171G>C (p.Gly1724Ala) | |
| 3 | g.38551144C>T | CA019022 | SCN5A | c.5225G>A (p.Gly1742Glu) c.5228G>A (p.Gly1743Glu) c.5174G>A (p.Gly1725Glu) c.5066G>A (p.Gly1689Glu) c.5129G>A (p.Gly1710Glu) c.5099G>A (p.Gly1700Glu) c.5171G>A (p.Gly1724Glu) | ClinVar dbSNP |