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.38550908_38550911del | CA019255 | SCN5A | c.5461_5464del (p.Glu1822HisfsTer10) c.5464_5467del (p.Glu1823HisfsTer10) c.5410_5413del (p.Glu1805HisfsTer10) c.5302_5305del (p.Glu1769HisfsTer10) c.5365_5368del (p.Glu1790HisfsTer10) c.5335_5338del (p.Glu1780HisfsTer10) c.5407_5410del (p.Glu1804HisfsTer10) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38550909_38550911delinsCAG | CA1358556880 | SCN5A | c.5458_5460delinsCTG (p.Leu1820=) c.5461_5463delinsCTG (p.Leu1821=) c.5407_5409delinsCTG (p.Leu1803=) c.5299_5301delinsCTG (p.Leu1767=) c.5362_5364delinsCTG (p.Leu1788=) c.5332_5334delinsCTG (p.Leu1778=) c.5404_5406delinsCTG (p.Leu1802=) | |
| 3 | g.38550910A>C | CA352141057 | SCN5A | c.5459T>G (p.Leu1820Arg) c.5462T>G (p.Leu1821Arg) c.5408T>G (p.Leu1803Arg) c.5300T>G (p.Leu1767Arg) c.5363T>G (p.Leu1788Arg) c.5333T>G (p.Leu1778Arg) c.5405T>G (p.Leu1802Arg) | |
| 3 | g.38550910A>G | CA352141058 | SCN5A | c.5459T>C (p.Leu1820Pro) c.5462T>C (p.Leu1821Pro) c.5408T>C (p.Leu1803Pro) c.5300T>C (p.Leu1767Pro) c.5363T>C (p.Leu1788Pro) c.5333T>C (p.Leu1778Pro) c.5405T>C (p.Leu1802Pro) | |
| 3 | g.38550910A>T | CA352141059 | SCN5A | c.5459T>A (p.Leu1820Gln) c.5462T>A (p.Leu1821Gln) c.5408T>A (p.Leu1803Gln) c.5300T>A (p.Leu1767Gln) c.5363T>A (p.Leu1788Gln) c.5333T>A (p.Leu1778Gln) c.5405T>A (p.Leu1802Gln) | |
| 3 | g.38550910_38550911del | CA658655809 | SCN5A | c.5458_5459del (p.Leu1820ValfsTer2) c.5461_5462del (p.Leu1821ValfsTer2) c.5407_5408del (p.Leu1803ValfsTer2) c.5299_5300del (p.Leu1767ValfsTer2) c.5362_5363del (p.Leu1788ValfsTer2) c.5332_5333del (p.Leu1778ValfsTer2) c.5404_5405del (p.Leu1802ValfsTer2) | ClinVar dbSNP |
| 3 | g.38550911G>A | CA433332280 | SCN5A | c.5458C>T (p.Leu1820=) c.5461C>T (p.Leu1821=) c.5407C>T (p.Leu1803=) c.5299C>T (p.Leu1767=) c.5362C>T (p.Leu1788=) c.5332C>T (p.Leu1778=) c.5404C>T (p.Leu1802=) | |
| 3 | g.38550911G>C | CA352141060 | SCN5A | c.5458C>G (p.Leu1820Val) c.5461C>G (p.Leu1821Val) c.5407C>G (p.Leu1803Val) c.5299C>G (p.Leu1767Val) c.5362C>G (p.Leu1788Val) c.5332C>G (p.Leu1778Val) c.5404C>G (p.Leu1802Val) | |
| 3 | g.38550911G>T | CA352141061 | SCN5A | c.5458C>A (p.Leu1820Met) c.5461C>A (p.Leu1821Met) c.5407C>A (p.Leu1803Met) c.5299C>A (p.Leu1767Met) c.5362C>A (p.Leu1788Met) c.5332C>A (p.Leu1778Met) c.5404C>A (p.Leu1802Met) | |
| 3 | g.38550913del | CA2586965760 | SCN5A | c.5458del (p.Leu1820CysfsTer13) c.5461del (p.Leu1821CysfsTer13) c.5407del (p.Leu1803CysfsTer13) c.5299del (p.Leu1767CysfsTer13) c.5362del (p.Leu1788CysfsTer13) c.5332del (p.Leu1778CysfsTer13) c.5404del (p.Leu1802CysfsTer13) | |
| 3 | g.38550912G>A | CA433332281 | SCN5A | c.5457C>T (p.Ala1819=) c.5460C>T (p.Ala1820=) c.5406C>T (p.Ala1802=) c.5298C>T (p.Ala1766=) c.5361C>T (p.Ala1787=) c.5331C>T (p.Ala1777=) c.5403C>T (p.Ala1801=) | ClinVar dbSNP |
| 3 | g.38550912G>C | CA433332283 | SCN5A | c.5457C>G (p.Ala1819=) c.5460C>G (p.Ala1820=) c.5406C>G (p.Ala1802=) c.5298C>G (p.Ala1766=) c.5361C>G (p.Ala1787=) c.5331C>G (p.Ala1777=) c.5403C>G (p.Ala1801=) | ClinVar |
| 3 | g.38550912G= | CA1358556888 | SCN5A | c.5457C= (p.Ala1819=) c.5460C= (p.Ala1820=) c.5406C= (p.Ala1802=) c.5298C= (p.Ala1766=) c.5361C= (p.Ala1787=) c.5331C= (p.Ala1777=) c.5403C= (p.Ala1801=) | |
| 3 | g.38550912G>T | CA433332284 | SCN5A | c.5457C>A (p.Ala1819=) c.5460C>A (p.Ala1820=) c.5406C>A (p.Ala1802=) c.5298C>A (p.Ala1766=) c.5361C>A (p.Ala1787=) c.5331C>A (p.Ala1777=) c.5403C>A (p.Ala1801=) | dbSNP |
| 3 | g.38550913G>A | CA352141062 | SCN5A | c.5456C>T (p.Ala1819Val) c.5459C>T (p.Ala1820Val) c.5405C>T (p.Ala1802Val) c.5297C>T (p.Ala1766Val) c.5360C>T (p.Ala1787Val) c.5330C>T (p.Ala1777Val) c.5402C>T (p.Ala1801Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38550913G>C | CA352141064 | SCN5A | c.5456C>G (p.Ala1819Gly) c.5459C>G (p.Ala1820Gly) c.5405C>G (p.Ala1802Gly) c.5297C>G (p.Ala1766Gly) c.5360C>G (p.Ala1787Gly) c.5330C>G (p.Ala1777Gly) c.5402C>G (p.Ala1801Gly) | |
| 3 | g.38550913G= | CA1358556892 | SCN5A | c.5456C= (p.Ala1819=) c.5459C= (p.Ala1820=) c.5405C= (p.Ala1802=) c.5297C= (p.Ala1766=) c.5360C= (p.Ala1787=) c.5330C= (p.Ala1777=) c.5402C= (p.Ala1801=) | |
| 3 | g.38550913G>T | CA352141063 | SCN5A | c.5456C>A (p.Ala1819Asp) c.5459C>A (p.Ala1820Asp) c.5405C>A (p.Ala1802Asp) c.5297C>A (p.Ala1766Asp) c.5360C>A (p.Ala1787Asp) c.5330C>A (p.Ala1777Asp) c.5402C>A (p.Ala1801Asp) | |
| 3 | g.38550914C>A | CA352141065 | SCN5A | c.5455G>T (p.Ala1819Ser) c.5458G>T (p.Ala1820Ser) c.5404G>T (p.Ala1802Ser) c.5296G>T (p.Ala1766Ser) c.5359G>T (p.Ala1787Ser) c.5329G>T (p.Ala1777Ser) c.5401G>T (p.Ala1801Ser) | |
| 3 | g.38550914C= | CA1358556895 | SCN5A | c.5455G= (p.Ala1819=) c.5458G= (p.Ala1820=) c.5404G= (p.Ala1802=) c.5296G= (p.Ala1766=) c.5359G= (p.Ala1787=) c.5329G= (p.Ala1777=) c.5401G= (p.Ala1801=) | |
| 3 | g.38550914C>G | CA352141066 | SCN5A | c.5455G>C (p.Ala1819Pro) c.5458G>C (p.Ala1820Pro) c.5404G>C (p.Ala1802Pro) c.5296G>C (p.Ala1766Pro) c.5359G>C (p.Ala1787Pro) c.5329G>C (p.Ala1777Pro) c.5401G>C (p.Ala1801Pro) | |
| 3 | g.38550914C>T | CA019251 | SCN5A | c.5455G>A (p.Ala1819Thr) c.5458G>A (p.Ala1820Thr) c.5404G>A (p.Ala1802Thr) c.5296G>A (p.Ala1766Thr) c.5359G>A (p.Ala1787Thr) c.5329G>A (p.Ala1777Thr) c.5401G>A (p.Ala1801Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38550914_38550915delinsTG | CA658796274 | SCN5A | c.5454_5455delinsCA (p.Ala1819Thr) c.5457_5458delinsCA (p.Ala1820Thr) c.5403_5404delinsCA (p.Ala1802Thr) c.5295_5296delinsCA (p.Ala1766Thr) c.5358_5359delinsCA (p.Ala1787Thr) c.5328_5329delinsCA (p.Ala1777Thr) c.5400_5401delinsCA (p.Ala1801Thr) | ClinVar |
| 3 | g.38550915A= | CA1358556908 | SCN5A | c.5454T= (p.Asp1818=) c.5457T= (p.Asp1819=) c.5403T= (p.Asp1801=) c.5295T= (p.Asp1765=) c.5358T= (p.Asp1786=) c.5328T= (p.Asp1776=) c.5400T= (p.Asp1800=) | |
| 3 | g.38550915A>C | CA352141067 | SCN5A | c.5454T>G (p.Asp1818Glu) c.5457T>G (p.Asp1819Glu) c.5403T>G (p.Asp1801Glu) c.5295T>G (p.Asp1765Glu) c.5358T>G (p.Asp1786Glu) c.5328T>G (p.Asp1776Glu) c.5400T>G (p.Asp1800Glu) | |
| 3 | g.38550915A>G | CA019243 | SCN5A | c.5454T>C (p.Asp1818=) c.5457T>C (p.Asp1819=) c.5403T>C (p.Asp1801=) c.5295T>C (p.Asp1765=) c.5358T>C (p.Asp1786=) c.5328T>C (p.Asp1776=) c.5400T>C (p.Asp1800=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38550915A>T | CA352141068 | SCN5A | c.5454T>A (p.Asp1818Glu) c.5457T>A (p.Asp1819Glu) c.5403T>A (p.Asp1801Glu) c.5295T>A (p.Asp1765Glu) c.5358T>A (p.Asp1786Glu) c.5328T>A (p.Asp1776Glu) c.5400T>A (p.Asp1800Glu) | |
| 3 | g.38550915_38550917delinsATC | CA1358556905 | SCN5A | c.5452_5454delinsGAT (p.Asp1818=) c.5455_5457delinsGAT (p.Asp1819=) c.5401_5403delinsGAT (p.Asp1801=) c.5293_5295delinsGAT (p.Asp1765=) c.5356_5358delinsGAT (p.Asp1786=) c.5326_5328delinsGAT (p.Asp1776=) c.5398_5400delinsGAT (p.Asp1800=) | |
| 3 | g.38550915_38550917delinsGTT | CA913188086 | SCN5A | c.5452_5454delinsAAC (p.Asp1818Asn) c.5455_5457delinsAAC (p.Asp1819Asn) c.5401_5403delinsAAC (p.Asp1801Asn) c.5293_5295delinsAAC (p.Asp1765Asn) c.5356_5358delinsAAC (p.Asp1786Asn) c.5326_5328delinsAAC (p.Asp1776Asn) c.5398_5400delinsAAC (p.Asp1800Asn) | ClinVar dbSNP |
| 3 | g.38550916T>A | CA352141069 | SCN5A | c.5453A>T (p.Asp1818Val) c.5456A>T (p.Asp1819Val) c.5402A>T (p.Asp1801Val) c.5294A>T (p.Asp1765Val) c.5357A>T (p.Asp1786Val) c.5327A>T (p.Asp1776Val) c.5399A>T (p.Asp1800Val) | |
| 3 | g.38550916T>C | CA352141070 | SCN5A | c.5453A>G (p.Asp1818Gly) c.5456A>G (p.Asp1819Gly) c.5402A>G (p.Asp1801Gly) c.5294A>G (p.Asp1765Gly) c.5357A>G (p.Asp1786Gly) c.5327A>G (p.Asp1776Gly) c.5399A>G (p.Asp1800Gly) | |
| 3 | g.38550916T>G | CA352141071 | SCN5A | c.5453A>C (p.Asp1818Ala) c.5456A>C (p.Asp1819Ala) c.5402A>C (p.Asp1801Ala) c.5294A>C (p.Asp1765Ala) c.5357A>C (p.Asp1786Ala) c.5327A>C (p.Asp1776Ala) c.5399A>C (p.Asp1800Ala) | |
| 3 | g.38550917C>A | CA352141073 | SCN5A | c.5452G>T (p.Asp1818Tyr) c.5455G>T (p.Asp1819Tyr) c.5401G>T (p.Asp1801Tyr) c.5293G>T (p.Asp1765Tyr) c.5356G>T (p.Asp1786Tyr) c.5326G>T (p.Asp1776Tyr) c.5398G>T (p.Asp1800Tyr) | gnomAD v4 |
| 3 | g.38550917C= | CA1358556916 | SCN5A | c.5452G= (p.Asp1818=) c.5455G= (p.Asp1819=) c.5401G= (p.Asp1801=) c.5293G= (p.Asp1765=) c.5356G= (p.Asp1786=) c.5326G= (p.Asp1776=) c.5398G= (p.Asp1800=) | |
| 3 | g.38550917C>G | CA352141072 | SCN5A | c.5452G>C (p.Asp1818His) c.5455G>C (p.Asp1819His) c.5401G>C (p.Asp1801His) c.5293G>C (p.Asp1765His) c.5356G>C (p.Asp1786His) c.5326G>C (p.Asp1776His) c.5398G>C (p.Asp1800His) | |
| 3 | g.38550917C>T | CA019238 | SCN5A | c.5452G>A (p.Asp1818Asn) c.5455G>A (p.Asp1819Asn) c.5401G>A (p.Asp1801Asn) c.5293G>A (p.Asp1765Asn) c.5356G>A (p.Asp1786Asn) c.5326G>A (p.Asp1776Asn) c.5398G>A (p.Asp1800Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38550918G>A | CA064428 | SCN5A | c.5451C>T (p.Ala1817=) c.5454C>T (p.Ala1818=) c.5400C>T (p.Ala1800=) c.5292C>T (p.Ala1764=) c.5355C>T (p.Ala1785=) c.5325C>T (p.Ala1775=) c.5397C>T (p.Ala1799=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.38550918G>C | CA433331572 | SCN5A | c.5451C>G (p.Ala1817=) c.5454C>G (p.Ala1818=) c.5400C>G (p.Ala1800=) c.5292C>G (p.Ala1764=) c.5355C>G (p.Ala1785=) c.5325C>G (p.Ala1775=) c.5397C>G (p.Ala1799=) | |
| 3 | g.38550918G= | CA1358556922 | SCN5A | c.5451C= (p.Ala1817=) c.5454C= (p.Ala1818=) c.5400C= (p.Ala1800=) c.5292C= (p.Ala1764=) c.5355C= (p.Ala1785=) c.5325C= (p.Ala1775=) c.5397C= (p.Ala1799=) | |
| 3 | g.38550918G>T | CA433331573 | SCN5A | c.5451C>A (p.Ala1817=) c.5454C>A (p.Ala1818=) c.5400C>A (p.Ala1800=) c.5292C>A (p.Ala1764=) c.5355C>A (p.Ala1785=) c.5325C>A (p.Ala1775=) c.5397C>A (p.Ala1799=) | |
| 3 | g.38550919G>A | CA352141074 | SCN5A | c.5450C>T (p.Ala1817Val) c.5453C>T (p.Ala1818Val) c.5399C>T (p.Ala1800Val) c.5291C>T (p.Ala1764Val) c.5354C>T (p.Ala1785Val) c.5324C>T (p.Ala1775Val) c.5396C>T (p.Ala1799Val) | ClinVar |
| 3 | g.38550919G>C | CA352141075 | SCN5A | c.5450C>G (p.Ala1817Gly) c.5453C>G (p.Ala1818Gly) c.5399C>G (p.Ala1800Gly) c.5291C>G (p.Ala1764Gly) c.5354C>G (p.Ala1785Gly) c.5324C>G (p.Ala1775Gly) c.5396C>G (p.Ala1799Gly) | |
| 3 | g.38550919G>T | CA352141076 | SCN5A | c.5450C>A (p.Ala1817Asp) c.5453C>A (p.Ala1818Asp) c.5399C>A (p.Ala1800Asp) c.5291C>A (p.Ala1764Asp) c.5354C>A (p.Ala1785Asp) c.5324C>A (p.Ala1775Asp) c.5396C>A (p.Ala1799Asp) | |
| 3 | g.38550920C>A | CA352141077 | SCN5A | c.5449G>T (p.Ala1817Ser) c.5452G>T (p.Ala1818Ser) c.5398G>T (p.Ala1800Ser) c.5290G>T (p.Ala1764Ser) c.5353G>T (p.Ala1785Ser) c.5323G>T (p.Ala1775Ser) c.5395G>T (p.Ala1799Ser) | |
| 3 | g.38550920C= | CA1358556927 | SCN5A | c.5449G= (p.Ala1817=) c.5452G= (p.Ala1818=) c.5398G= (p.Ala1800=) c.5290G= (p.Ala1764=) c.5353G= (p.Ala1785=) c.5323G= (p.Ala1775=) c.5395G= (p.Ala1799=) | |
| 3 | g.38550920C>G | CA352141078 | SCN5A | c.5449G>C (p.Ala1817Pro) c.5452G>C (p.Ala1818Pro) c.5398G>C (p.Ala1800Pro) c.5290G>C (p.Ala1764Pro) c.5353G>C (p.Ala1785Pro) c.5323G>C (p.Ala1775Pro) c.5395G>C (p.Ala1799Pro) | |
| 3 | g.38550920C>T | CA352141079 | SCN5A | c.5449G>A (p.Ala1817Thr) c.5452G>A (p.Ala1818Thr) c.5398G>A (p.Ala1800Thr) c.5290G>A (p.Ala1764Thr) c.5353G>A (p.Ala1785Thr) c.5323G>A (p.Ala1775Thr) c.5395G>A (p.Ala1799Thr) | dbSNP |
| 3 | g.38550921A>C | CA352141080 | SCN5A | c.5448T>G (p.Phe1816Leu) c.5451T>G (p.Phe1817Leu) c.5397T>G (p.Phe1799Leu) c.5289T>G (p.Phe1763Leu) c.5352T>G (p.Phe1784Leu) c.5322T>G (p.Phe1774Leu) c.5394T>G (p.Phe1798Leu) | |
| 3 | g.38550921A>G | CA433331581 | SCN5A | c.5448T>C (p.Phe1816=) c.5451T>C (p.Phe1817=) c.5397T>C (p.Phe1799=) c.5289T>C (p.Phe1763=) c.5352T>C (p.Phe1784=) c.5322T>C (p.Phe1774=) c.5394T>C (p.Phe1798=) | |
| 3 | g.38550921A>T | CA352141081 | SCN5A | c.5448T>A (p.Phe1816Leu) c.5451T>A (p.Phe1817Leu) c.5397T>A (p.Phe1799Leu) c.5289T>A (p.Phe1763Leu) c.5352T>A (p.Phe1784Leu) c.5322T>A (p.Phe1774Leu) c.5394T>A (p.Phe1798Leu) |