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.38550810G>A | CA064545 | SCN5A | c.5559C>T (p.Leu1853=) c.5562C>T (p.Leu1854=) c.5508C>T (p.Leu1836=) c.5400C>T (p.Leu1800=) c.5463C>T (p.Leu1821=) c.5433C>T (p.Leu1811=) c.5505C>T (p.Leu1835=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38550810G>C | CA433332060 | SCN5A | c.5559C>G (p.Leu1853=) c.5562C>G (p.Leu1854=) c.5508C>G (p.Leu1836=) c.5400C>G (p.Leu1800=) c.5463C>G (p.Leu1821=) c.5433C>G (p.Leu1811=) c.5505C>G (p.Leu1835=) | |
| 3 | g.38550810G= | CA1358556638 | SCN5A | c.5559C= (p.Leu1853=) c.5562C= (p.Leu1854=) c.5508C= (p.Leu1836=) c.5400C= (p.Leu1800=) c.5463C= (p.Leu1821=) c.5433C= (p.Leu1811=) c.5505C= (p.Leu1835=) | |
| 3 | g.38550810G>T | CA433332061 | SCN5A | c.5559C>A (p.Leu1853=) c.5562C>A (p.Leu1854=) c.5508C>A (p.Leu1836=) c.5400C>A (p.Leu1800=) c.5463C>A (p.Leu1821=) c.5433C>A (p.Leu1811=) c.5505C>A (p.Leu1835=) | |
| 3 | g.38550811A>C | CA352140843 | SCN5A | c.5558T>G (p.Leu1853Arg) c.5561T>G (p.Leu1854Arg) c.5507T>G (p.Leu1836Arg) c.5399T>G (p.Leu1800Arg) c.5462T>G (p.Leu1821Arg) c.5432T>G (p.Leu1811Arg) c.5504T>G (p.Leu1835Arg) | |
| 3 | g.38550811A>G | CA352140842 | SCN5A | c.5558T>C (p.Leu1853Pro) c.5561T>C (p.Leu1854Pro) c.5507T>C (p.Leu1836Pro) c.5399T>C (p.Leu1800Pro) c.5462T>C (p.Leu1821Pro) c.5432T>C (p.Leu1811Pro) c.5504T>C (p.Leu1835Pro) | |
| 3 | g.38550811A>T | CA352140841 | SCN5A | c.5558T>A (p.Leu1853His) c.5561T>A (p.Leu1854His) c.5507T>A (p.Leu1836His) c.5399T>A (p.Leu1800His) c.5462T>A (p.Leu1821His) c.5432T>A (p.Leu1811His) c.5504T>A (p.Leu1835His) | |
| 3 | g.38550812G>A | CA352140846 | SCN5A | c.5557C>T (p.Leu1853Phe) c.5560C>T (p.Leu1854Phe) c.5506C>T (p.Leu1836Phe) c.5398C>T (p.Leu1800Phe) c.5461C>T (p.Leu1821Phe) c.5431C>T (p.Leu1811Phe) c.5503C>T (p.Leu1835Phe) | |
| 3 | g.38550812G>C | CA352140844 | SCN5A | c.5557C>G (p.Leu1853Val) c.5560C>G (p.Leu1854Val) c.5506C>G (p.Leu1836Val) c.5398C>G (p.Leu1800Val) c.5461C>G (p.Leu1821Val) c.5431C>G (p.Leu1811Val) c.5503C>G (p.Leu1835Val) | |
| 3 | g.38550812G>T | CA352140845 | SCN5A | c.5557C>A (p.Leu1853Ile) c.5560C>A (p.Leu1854Ile) c.5506C>A (p.Leu1836Ile) c.5398C>A (p.Leu1800Ile) c.5461C>A (p.Leu1821Ile) c.5431C>A (p.Leu1811Ile) c.5503C>A (p.Leu1835Ile) | |
| 3 | g.38550813A= | CA1358556643 | SCN5A | c.5556T= (p.Ile1852=) c.5559T= (p.Ile1853=) c.5505T= (p.Ile1835=) c.5397T= (p.Ile1799=) c.5460T= (p.Ile1820=) c.5430T= (p.Ile1810=) c.5502T= (p.Ile1834=) | |
| 3 | g.38550813A>C | CA352140847 | SCN5A | c.5556T>G (p.Ile1852Met) c.5559T>G (p.Ile1853Met) c.5505T>G (p.Ile1835Met) c.5397T>G (p.Ile1799Met) c.5460T>G (p.Ile1820Met) c.5430T>G (p.Ile1810Met) c.5502T>G (p.Ile1834Met) | |
| 3 | g.38550813A>G | CA064537 | SCN5A | c.5556T>C (p.Ile1852=) c.5559T>C (p.Ile1853=) c.5505T>C (p.Ile1835=) c.5397T>C (p.Ile1799=) c.5460T>C (p.Ile1820=) c.5430T>C (p.Ile1810=) c.5502T>C (p.Ile1834=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38550813A>T | CA433332062 | SCN5A | c.5556T>A (p.Ile1852=) c.5559T>A (p.Ile1853=) c.5505T>A (p.Ile1835=) c.5397T>A (p.Ile1799=) c.5460T>A (p.Ile1820=) c.5430T>A (p.Ile1810=) c.5502T>A (p.Ile1834=) | |
| 3 | g.38550814A>C | CA352140848 | SCN5A | c.5555T>G (p.Ile1852Ser) c.5558T>G (p.Ile1853Ser) c.5504T>G (p.Ile1835Ser) c.5396T>G (p.Ile1799Ser) c.5459T>G (p.Ile1820Ser) c.5429T>G (p.Ile1810Ser) c.5501T>G (p.Ile1834Ser) | |
| 3 | g.38550814A>G | CA352140849 | SCN5A | c.5555T>C (p.Ile1852Thr) c.5558T>C (p.Ile1853Thr) c.5504T>C (p.Ile1835Thr) c.5396T>C (p.Ile1799Thr) c.5459T>C (p.Ile1820Thr) c.5429T>C (p.Ile1810Thr) c.5501T>C (p.Ile1834Thr) | |
| 3 | g.38550814A>T | CA352140850 | SCN5A | c.5555T>A (p.Ile1852Asn) c.5558T>A (p.Ile1853Asn) c.5504T>A (p.Ile1835Asn) c.5396T>A (p.Ile1799Asn) c.5459T>A (p.Ile1820Asn) c.5429T>A (p.Ile1810Asn) c.5501T>A (p.Ile1834Asn) | |
| 3 | g.38550815T>A | CA352140851 | SCN5A | c.5554A>T (p.Ile1852Phe) c.5557A>T (p.Ile1853Phe) c.5503A>T (p.Ile1835Phe) c.5395A>T (p.Ile1799Phe) c.5458A>T (p.Ile1820Phe) c.5428A>T (p.Ile1810Phe) c.5500A>T (p.Ile1834Phe) | |
| 3 | g.38550815T>C | CA352140852 | SCN5A | c.5554A>G (p.Ile1852Val) c.5557A>G (p.Ile1853Val) c.5503A>G (p.Ile1835Val) c.5395A>G (p.Ile1799Val) c.5458A>G (p.Ile1820Val) c.5428A>G (p.Ile1810Val) c.5500A>G (p.Ile1834Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38550815T>G | CA352140853 | SCN5A | c.5554A>C (p.Ile1852Leu) c.5557A>C (p.Ile1853Leu) c.5503A>C (p.Ile1835Leu) c.5395A>C (p.Ile1799Leu) c.5458A>C (p.Ile1820Leu) c.5428A>C (p.Ile1810Leu) c.5500A>C (p.Ile1834Leu) | ClinVar dbSNP |
| 3 | g.38550815T= | CA1358556649 | SCN5A | c.5554A= (p.Ile1852=) c.5557A= (p.Ile1853=) c.5503A= (p.Ile1835=) c.5395A= (p.Ile1799=) c.5458A= (p.Ile1820=) c.5428A= (p.Ile1810=) c.5500A= (p.Ile1834=) | |
| 3 | g.38550816G>A | CA433332064 | SCN5A | c.5553C>T (p.Asp1851=) c.5556C>T (p.Asp1852=) c.5502C>T (p.Asp1834=) c.5394C>T (p.Asp1798=) c.5457C>T (p.Asp1819=) c.5427C>T (p.Asp1809=) c.5499C>T (p.Asp1833=) | ClinVar dbSNP gnomAD v2 |
| 3 | g.38550816G>C | CA352140854 | SCN5A | c.5553C>G (p.Asp1851Glu) c.5556C>G (p.Asp1852Glu) c.5502C>G (p.Asp1834Glu) c.5394C>G (p.Asp1798Glu) c.5457C>G (p.Asp1819Glu) c.5427C>G (p.Asp1809Glu) c.5499C>G (p.Asp1833Glu) | |
| 3 | g.38550816G= | CA1358556655 | SCN5A | c.5553C= (p.Asp1851=) c.5556C= (p.Asp1852=) c.5502C= (p.Asp1834=) c.5394C= (p.Asp1798=) c.5457C= (p.Asp1819=) c.5427C= (p.Asp1809=) c.5499C= (p.Asp1833=) | |
| 3 | g.38550816G>T | CA352140855 | SCN5A | c.5553C>A (p.Asp1851Glu) c.5556C>A (p.Asp1852Glu) c.5502C>A (p.Asp1834Glu) c.5394C>A (p.Asp1798Glu) c.5457C>A (p.Asp1819Glu) c.5427C>A (p.Asp1809Glu) c.5499C>A (p.Asp1833Glu) | |
| 3 | g.38550817T>A | CA064529 | SCN5A | c.5552A>T (p.Asp1851Val) c.5555A>T (p.Asp1852Val) c.5501A>T (p.Asp1834Val) c.5393A>T (p.Asp1798Val) c.5456A>T (p.Asp1819Val) c.5426A>T (p.Asp1809Val) c.5498A>T (p.Asp1833Val) | ClinVar dbSNP ExAC gnomAD v2 |
| 3 | g.38550817T>C | CA352140857 | SCN5A | c.5552A>G (p.Asp1851Gly) c.5555A>G (p.Asp1852Gly) c.5501A>G (p.Asp1834Gly) c.5393A>G (p.Asp1798Gly) c.5456A>G (p.Asp1819Gly) c.5426A>G (p.Asp1809Gly) c.5498A>G (p.Asp1833Gly) | |
| 3 | g.38550817T>G | CA352140856 | SCN5A | c.5552A>C (p.Asp1851Ala) c.5555A>C (p.Asp1852Ala) c.5501A>C (p.Asp1834Ala) c.5393A>C (p.Asp1798Ala) c.5456A>C (p.Asp1819Ala) c.5426A>C (p.Asp1809Ala) c.5498A>C (p.Asp1833Ala) | |
| 3 | g.38550817T= | CA1358556659 | SCN5A | c.5552A= (p.Asp1851=) c.5555A= (p.Asp1852=) c.5501A= (p.Asp1834=) c.5393A= (p.Asp1798=) c.5456A= (p.Asp1819=) c.5426A= (p.Asp1809=) c.5498A= (p.Asp1833=) | |
| 3 | g.38550818C>A | CA352140858 | SCN5A | c.5551G>T (p.Asp1851Tyr) c.5554G>T (p.Asp1852Tyr) c.5500G>T (p.Asp1834Tyr) c.5392G>T (p.Asp1798Tyr) c.5455G>T (p.Asp1819Tyr) c.5425G>T (p.Asp1809Tyr) c.5497G>T (p.Asp1833Tyr) | |
| 3 | g.38550818C>G | CA352140859 | SCN5A | c.5551G>C (p.Asp1851His) c.5554G>C (p.Asp1852His) c.5500G>C (p.Asp1834His) c.5392G>C (p.Asp1798His) c.5455G>C (p.Asp1819His) c.5425G>C (p.Asp1809His) c.5497G>C (p.Asp1833His) | |
| 3 | g.38550818C>T | CA352140860 | SCN5A | c.5551G>A (p.Asp1851Asn) c.5554G>A (p.Asp1852Asn) c.5500G>A (p.Asp1834Asn) c.5392G>A (p.Asp1798Asn) c.5455G>A (p.Asp1819Asn) c.5425G>A (p.Asp1809Asn) c.5497G>A (p.Asp1833Asn) | gnomAD v4 |
| 3 | g.38550819C>A | CA352140861 | SCN5A | c.5550G>T (p.Met1850Ile) c.5553G>T (p.Met1851Ile) c.5499G>T (p.Met1833Ile) c.5391G>T (p.Met1797Ile) c.5454G>T (p.Met1818Ile) c.5424G>T (p.Met1808Ile) c.5496G>T (p.Met1832Ile) | |
| 3 | g.38550819C= | CA1358556662 | SCN5A | c.5550G= (p.Met1850=) c.5553G= (p.Met1851=) c.5499G= (p.Met1833=) c.5391G= (p.Met1797=) c.5454G= (p.Met1818=) c.5424G= (p.Met1808=) c.5496G= (p.Met1832=) | |
| 3 | g.38550819C>G | CA352140862 | SCN5A | c.5550G>C (p.Met1850Ile) c.5553G>C (p.Met1851Ile) c.5499G>C (p.Met1833Ile) c.5391G>C (p.Met1797Ile) c.5454G>C (p.Met1818Ile) c.5424G>C (p.Met1808Ile) c.5496G>C (p.Met1832Ile) | |
| 3 | g.38550819C>T | CA352140863 | SCN5A | c.5550G>A (p.Met1850Ile) c.5553G>A (p.Met1851Ile) c.5499G>A (p.Met1833Ile) c.5391G>A (p.Met1797Ile) c.5454G>A (p.Met1818Ile) c.5424G>A (p.Met1808Ile) c.5496G>A (p.Met1832Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.38550820A= | CA1358556669 | SCN5A | c.5549T= (p.Met1850=) c.5552T= (p.Met1851=) c.5498T= (p.Met1833=) c.5390T= (p.Met1797=) c.5453T= (p.Met1818=) c.5423T= (p.Met1808=) c.5495T= (p.Met1832=) | |
| 3 | g.38550820A>C | CA352140864 | SCN5A | c.5549T>G (p.Met1850Arg) c.5552T>G (p.Met1851Arg) c.5498T>G (p.Met1833Arg) c.5390T>G (p.Met1797Arg) c.5453T>G (p.Met1818Arg) c.5423T>G (p.Met1808Arg) c.5495T>G (p.Met1832Arg) | |
| 3 | g.38550820A>G | CA352140866 | SCN5A | c.5549T>C (p.Met1850Thr) c.5552T>C (p.Met1851Thr) c.5498T>C (p.Met1833Thr) c.5390T>C (p.Met1797Thr) c.5453T>C (p.Met1818Thr) c.5423T>C (p.Met1808Thr) c.5495T>C (p.Met1832Thr) | |
| 3 | g.38550820A>T | CA352140865 | SCN5A | c.5549T>A (p.Met1850Lys) c.5552T>A (p.Met1851Lys) c.5498T>A (p.Met1833Lys) c.5390T>A (p.Met1797Lys) c.5453T>A (p.Met1818Lys) c.5423T>A (p.Met1808Lys) c.5495T>A (p.Met1832Lys) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38550824_38550832del | CA2573052150 | SCN5A | c.5541_5549del (p.Ile1847_Cys1849del) c.5544_5552del (p.Ile1848_Cys1850del) c.5490_5498del (p.Ile1830_Cys1832del) c.5382_5390del (p.Ile1794_Cys1796del) c.5445_5453del (p.Ile1815_Cys1817del) c.5415_5423del (p.Ile1805_Cys1807del) c.5487_5495del (p.Ile1829_Cys1831del) | ClinVar dbSNP |
| 3 | g.38550821T>A | CA352140867 | SCN5A | c.5548A>T (p.Met1850Leu) c.5551A>T (p.Met1851Leu) c.5497A>T (p.Met1833Leu) c.5389A>T (p.Met1797Leu) c.5452A>T (p.Met1818Leu) c.5422A>T (p.Met1808Leu) c.5494A>T (p.Met1832Leu) | |
| 3 | g.38550821T>C | CA352140868 | SCN5A | c.5548A>G (p.Met1850Val) c.5551A>G (p.Met1851Val) c.5497A>G (p.Met1833Val) c.5389A>G (p.Met1797Val) c.5452A>G (p.Met1818Val) c.5422A>G (p.Met1808Val) c.5494A>G (p.Met1832Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38550821T>G | CA352140869 | SCN5A | c.5548A>C (p.Met1850Leu) c.5551A>C (p.Met1851Leu) c.5497A>C (p.Met1833Leu) c.5389A>C (p.Met1797Leu) c.5452A>C (p.Met1818Leu) c.5422A>C (p.Met1808Leu) c.5494A>C (p.Met1832Leu) | |
| 3 | g.38550821T= | CA1358556671 | SCN5A | c.5548A= (p.Met1850=) c.5551A= (p.Met1851=) c.5497A= (p.Met1833=) c.5389A= (p.Met1797=) c.5452A= (p.Met1818=) c.5422A= (p.Met1808=) c.5494A= (p.Met1832=) | |
| 3 | g.38550822G>A | CA433332072 | SCN5A | c.5547C>T (p.Cys1849=) c.5550C>T (p.Cys1850=) c.5496C>T (p.Cys1832=) c.5388C>T (p.Cys1796=) c.5451C>T (p.Cys1817=) c.5421C>T (p.Cys1807=) c.5493C>T (p.Cys1831=) | dbSNP |
| 3 | g.38550822G>C | CA352140870 | SCN5A | c.5547C>G (p.Cys1849Trp) c.5550C>G (p.Cys1850Trp) c.5496C>G (p.Cys1832Trp) c.5388C>G (p.Cys1796Trp) c.5451C>G (p.Cys1817Trp) c.5421C>G (p.Cys1807Trp) c.5493C>G (p.Cys1831Trp) | |
| 3 | g.38550822G= | CA1358556672 | SCN5A | c.5547C= (p.Cys1849=) c.5550C= (p.Cys1850=) c.5496C= (p.Cys1832=) c.5388C= (p.Cys1796=) c.5451C= (p.Cys1817=) c.5421C= (p.Cys1807=) c.5493C= (p.Cys1831=) | |
| 3 | g.38550822G>T | CA352140871 | SCN5A | c.5547C>A (p.Cys1849Ter) c.5550C>A (p.Cys1850Ter) c.5496C>A (p.Cys1832Ter) c.5388C>A (p.Cys1796Ter) c.5451C>A (p.Cys1817Ter) c.5421C>A (p.Cys1807Ter) c.5493C>A (p.Cys1831Ter) | dbSNP |
| 3 | g.38550823C>A | CA352140873 | SCN5A | c.5546G>T (p.Cys1849Phe) c.5549G>T (p.Cys1850Phe) c.5495G>T (p.Cys1832Phe) c.5387G>T (p.Cys1796Phe) c.5450G>T (p.Cys1817Phe) c.5420G>T (p.Cys1807Phe) c.5492G>T (p.Cys1831Phe) |