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 |
|---|---|---|---|---|---|
| 12 | g.2679566C>A | CA232435 | CACNA1C,CACNA1C-AS1 | c.5289C>A (p.Gly1763=) c.5214C>A (p.Gly1738=) c.5181C>A (p.Gly1727=) c.5256C>A (p.Gly1752=) c.5304C>A (p.Gly1768=) c.5448C>A (p.Gly1816=) c.5205C>A (p.Gly1735=) c.5379C>A (p.Gly1793=) n.1717C>A n.344C>A c.5358C>A (p.Gly1786=) c.5337C>A (p.Gly1779=) c.5238C>A (p.Gly1746=) c.5274C>A (p.Gly1758=) c.5271C>A (p.Gly1757=) c.5265C>A (p.Gly1755=) c.5298C>A (p.Gly1766=) c.5232C>A (p.Gly1744=) c.4737C>A (p.Gly1579=) c.4881C>A (p.Gly1627=) c.1287C>A (p.Gly429=) c.4704C>A (p.Gly1568=) n.334-1669G>T c.4515C>A (p.Gly1505=) c.3960C>A (p.Gly1320=) c.2070C>A (p.Gly690=) c.5718C>A (p.Gly1906=) c.5661C>A (p.Gly1887=) c.5577C>A (p.Gly1859=) c.5349C>A (p.Gly1783=) c.5466C>A (p.Gly1822=) c.5457C>A (p.Gly1819=) c.5439C>A (p.Gly1813=) c.5433C>A (p.Gly1811=) c.5406C>A (p.Gly1802=) c.5400C>A (p.Gly1800=) c.5382C>A (p.Gly1794=) c.5376C>A (p.Gly1792=) c.5373C>A (p.Gly1791=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.2679566C= | CA2012347625 | CACNA1C,CACNA1C-AS1 | c.5289C= (p.Gly1763=) c.5214C= (p.Gly1738=) c.5181C= (p.Gly1727=) c.5256C= (p.Gly1752=) c.5304C= (p.Gly1768=) c.5448C= (p.Gly1816=) c.5205C= (p.Gly1735=) c.5379C= (p.Gly1793=) n.1717C= n.344C= c.5358C= (p.Gly1786=) c.5337C= (p.Gly1779=) c.5238C= (p.Gly1746=) c.5274C= (p.Gly1758=) c.5271C= (p.Gly1757=) c.5265C= (p.Gly1755=) c.5298C= (p.Gly1766=) c.5232C= (p.Gly1744=) c.4737C= (p.Gly1579=) c.4881C= (p.Gly1627=) c.1287C= (p.Gly429=) c.4704C= (p.Gly1568=) n.334-1669G= c.4515C= (p.Gly1505=) c.3960C= (p.Gly1320=) c.2070C= (p.Gly690=) c.5718C= (p.Gly1906=) c.5661C= (p.Gly1887=) c.5577C= (p.Gly1859=) c.5349C= (p.Gly1783=) c.5466C= (p.Gly1822=) c.5457C= (p.Gly1819=) c.5439C= (p.Gly1813=) c.5433C= (p.Gly1811=) c.5406C= (p.Gly1802=) c.5400C= (p.Gly1800=) c.5382C= (p.Gly1794=) c.5376C= (p.Gly1792=) c.5373C= (p.Gly1791=) | |
| 12 | g.2679566C>G | CA478087777 | CACNA1C,CACNA1C-AS1 | c.5289C>G (p.Gly1763=) c.5214C>G (p.Gly1738=) c.5181C>G (p.Gly1727=) c.5256C>G (p.Gly1752=) c.5304C>G (p.Gly1768=) c.5448C>G (p.Gly1816=) c.5205C>G (p.Gly1735=) c.5379C>G (p.Gly1793=) n.1717C>G n.344C>G c.5358C>G (p.Gly1786=) c.5337C>G (p.Gly1779=) c.5238C>G (p.Gly1746=) c.5274C>G (p.Gly1758=) c.5271C>G (p.Gly1757=) c.5265C>G (p.Gly1755=) c.5298C>G (p.Gly1766=) c.5232C>G (p.Gly1744=) c.4737C>G (p.Gly1579=) c.4881C>G (p.Gly1627=) c.1287C>G (p.Gly429=) c.4704C>G (p.Gly1568=) n.334-1669G>C c.4515C>G (p.Gly1505=) c.3960C>G (p.Gly1320=) c.2070C>G (p.Gly690=) c.5718C>G (p.Gly1906=) c.5661C>G (p.Gly1887=) c.5577C>G (p.Gly1859=) c.5349C>G (p.Gly1783=) c.5466C>G (p.Gly1822=) c.5457C>G (p.Gly1819=) c.5439C>G (p.Gly1813=) c.5433C>G (p.Gly1811=) c.5406C>G (p.Gly1802=) c.5400C>G (p.Gly1800=) c.5382C>G (p.Gly1794=) c.5376C>G (p.Gly1792=) c.5373C>G (p.Gly1791=) | |
| 12 | g.2679566C>T | CA6389732 | CACNA1C,CACNA1C-AS1 | c.5289C>T (p.Gly1763=) c.5214C>T (p.Gly1738=) c.5181C>T (p.Gly1727=) c.5256C>T (p.Gly1752=) c.5304C>T (p.Gly1768=) c.5448C>T (p.Gly1816=) c.5205C>T (p.Gly1735=) c.5379C>T (p.Gly1793=) n.1717C>T n.344C>T c.5358C>T (p.Gly1786=) c.5337C>T (p.Gly1779=) c.5238C>T (p.Gly1746=) c.5274C>T (p.Gly1758=) c.5271C>T (p.Gly1757=) c.5265C>T (p.Gly1755=) c.5298C>T (p.Gly1766=) c.5232C>T (p.Gly1744=) c.4737C>T (p.Gly1579=) c.4881C>T (p.Gly1627=) c.1287C>T (p.Gly429=) c.4704C>T (p.Gly1568=) n.334-1669G>A c.4515C>T (p.Gly1505=) c.3960C>T (p.Gly1320=) c.2070C>T (p.Gly690=) c.5718C>T (p.Gly1906=) c.5661C>T (p.Gly1887=) c.5577C>T (p.Gly1859=) c.5349C>T (p.Gly1783=) c.5466C>T (p.Gly1822=) c.5457C>T (p.Gly1819=) c.5439C>T (p.Gly1813=) c.5433C>T (p.Gly1811=) c.5406C>T (p.Gly1802=) c.5400C>T (p.Gly1800=) c.5382C>T (p.Gly1794=) c.5376C>T (p.Gly1792=) c.5373C>T (p.Gly1791=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 12 | g.2679567G>A | CA6389733 | CACNA1C,CACNA1C-AS1 | c.5290G>A (p.Asp1764Asn) c.5215G>A (p.Asp1739Asn) c.5182G>A (p.Asp1728Asn) c.5257G>A (p.Asp1753Asn) c.5305G>A (p.Asp1769Asn) c.5449G>A (p.Asp1817Asn) c.5206G>A (p.Asp1736Asn) c.5380G>A (p.Asp1794Asn) n.1718G>A n.345G>A c.5359G>A (p.Asp1787Asn) c.5338G>A (p.Asp1780Asn) c.5239G>A (p.Asp1747Asn) c.5275G>A (p.Asp1759Asn) c.5272G>A (p.Asp1758Asn) c.5266G>A (p.Asp1756Asn) c.5299G>A (p.Asp1767Asn) c.5233G>A (p.Asp1745Asn) c.4738G>A (p.Asp1580Asn) c.4882G>A (p.Asp1628Asn) c.1288G>A (p.Asp430Asn) c.4705G>A (p.Asp1569Asn) n.334-1670C>T c.4516G>A (p.Asp1506Asn) c.3961G>A (p.Asp1321Asn) c.2071G>A (p.Asp691Asn) c.5719G>A (p.Asp1907Asn) c.5662G>A (p.Asp1888Asn) c.5578G>A (p.Asp1860Asn) c.5350G>A (p.Asp1784Asn) c.5467G>A (p.Asp1823Asn) c.5458G>A (p.Asp1820Asn) c.5440G>A (p.Asp1814Asn) c.5434G>A (p.Asp1812Asn) c.5407G>A (p.Asp1803Asn) c.5401G>A (p.Asp1801Asn) c.5383G>A (p.Asp1795Asn) c.5377G>A (p.Asp1793Asn) c.5374G>A (p.Asp1792Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.2679567G>C | CA383378739 | CACNA1C,CACNA1C-AS1 | c.5290G>C (p.Asp1764His) c.5215G>C (p.Asp1739His) c.5182G>C (p.Asp1728His) c.5257G>C (p.Asp1753His) c.5305G>C (p.Asp1769His) c.5449G>C (p.Asp1817His) c.5206G>C (p.Asp1736His) c.5380G>C (p.Asp1794His) n.1718G>C n.345G>C c.5359G>C (p.Asp1787His) c.5338G>C (p.Asp1780His) c.5239G>C (p.Asp1747His) c.5275G>C (p.Asp1759His) c.5272G>C (p.Asp1758His) c.5266G>C (p.Asp1756His) c.5299G>C (p.Asp1767His) c.5233G>C (p.Asp1745His) c.4738G>C (p.Asp1580His) c.4882G>C (p.Asp1628His) c.1288G>C (p.Asp430His) c.4705G>C (p.Asp1569His) n.334-1670C>G c.4516G>C (p.Asp1506His) c.3961G>C (p.Asp1321His) c.2071G>C (p.Asp691His) c.5719G>C (p.Asp1907His) c.5662G>C (p.Asp1888His) c.5578G>C (p.Asp1860His) c.5350G>C (p.Asp1784His) c.5467G>C (p.Asp1823His) c.5458G>C (p.Asp1820His) c.5440G>C (p.Asp1814His) c.5434G>C (p.Asp1812His) c.5407G>C (p.Asp1803His) c.5401G>C (p.Asp1801His) c.5383G>C (p.Asp1795His) c.5377G>C (p.Asp1793His) c.5374G>C (p.Asp1792His) | |
| 12 | g.2679567G= | CA2012347626 | CACNA1C,CACNA1C-AS1 | c.5290G= (p.Asp1764=) c.5215G= (p.Asp1739=) c.5182G= (p.Asp1728=) c.5257G= (p.Asp1753=) c.5305G= (p.Asp1769=) c.5449G= (p.Asp1817=) c.5206G= (p.Asp1736=) c.5380G= (p.Asp1794=) n.1718G= n.345G= c.5359G= (p.Asp1787=) c.5338G= (p.Asp1780=) c.5239G= (p.Asp1747=) c.5275G= (p.Asp1759=) c.5272G= (p.Asp1758=) c.5266G= (p.Asp1756=) c.5299G= (p.Asp1767=) c.5233G= (p.Asp1745=) c.4738G= (p.Asp1580=) c.4882G= (p.Asp1628=) c.1288G= (p.Asp430=) c.4705G= (p.Asp1569=) n.334-1670C= c.4516G= (p.Asp1506=) c.3961G= (p.Asp1321=) c.2071G= (p.Asp691=) c.5719G= (p.Asp1907=) c.5662G= (p.Asp1888=) c.5578G= (p.Asp1860=) c.5350G= (p.Asp1784=) c.5467G= (p.Asp1823=) c.5458G= (p.Asp1820=) c.5440G= (p.Asp1814=) c.5434G= (p.Asp1812=) c.5407G= (p.Asp1803=) c.5401G= (p.Asp1801=) c.5383G= (p.Asp1795=) c.5377G= (p.Asp1793=) c.5374G= (p.Asp1792=) | |
| 12 | g.2679567G>T | CA383378740 | CACNA1C,CACNA1C-AS1 | c.5290G>T (p.Asp1764Tyr) c.5215G>T (p.Asp1739Tyr) c.5182G>T (p.Asp1728Tyr) c.5257G>T (p.Asp1753Tyr) c.5305G>T (p.Asp1769Tyr) c.5449G>T (p.Asp1817Tyr) c.5206G>T (p.Asp1736Tyr) c.5380G>T (p.Asp1794Tyr) n.1718G>T n.345G>T c.5359G>T (p.Asp1787Tyr) c.5338G>T (p.Asp1780Tyr) c.5239G>T (p.Asp1747Tyr) c.5275G>T (p.Asp1759Tyr) c.5272G>T (p.Asp1758Tyr) c.5266G>T (p.Asp1756Tyr) c.5299G>T (p.Asp1767Tyr) c.5233G>T (p.Asp1745Tyr) c.4738G>T (p.Asp1580Tyr) c.4882G>T (p.Asp1628Tyr) c.1288G>T (p.Asp430Tyr) c.4705G>T (p.Asp1569Tyr) n.334-1670C>A c.4516G>T (p.Asp1506Tyr) c.3961G>T (p.Asp1321Tyr) c.2071G>T (p.Asp691Tyr) c.5719G>T (p.Asp1907Tyr) c.5662G>T (p.Asp1888Tyr) c.5578G>T (p.Asp1860Tyr) c.5350G>T (p.Asp1784Tyr) c.5467G>T (p.Asp1823Tyr) c.5458G>T (p.Asp1820Tyr) c.5440G>T (p.Asp1814Tyr) c.5434G>T (p.Asp1812Tyr) c.5407G>T (p.Asp1803Tyr) c.5401G>T (p.Asp1801Tyr) c.5383G>T (p.Asp1795Tyr) c.5377G>T (p.Asp1793Tyr) c.5374G>T (p.Asp1792Tyr) | |
| 12 | g.2679568A>C | CA383378741 | CACNA1C,CACNA1C-AS1 | c.5291A>C (p.Asp1764Ala) c.5216A>C (p.Asp1739Ala) c.5183A>C (p.Asp1728Ala) c.5258A>C (p.Asp1753Ala) c.5306A>C (p.Asp1769Ala) c.5450A>C (p.Asp1817Ala) c.5207A>C (p.Asp1736Ala) c.5381A>C (p.Asp1794Ala) n.1719A>C n.346A>C c.5360A>C (p.Asp1787Ala) c.5339A>C (p.Asp1780Ala) c.5240A>C (p.Asp1747Ala) c.5276A>C (p.Asp1759Ala) c.5273A>C (p.Asp1758Ala) c.5267A>C (p.Asp1756Ala) c.5300A>C (p.Asp1767Ala) c.5234A>C (p.Asp1745Ala) c.4739A>C (p.Asp1580Ala) c.4883A>C (p.Asp1628Ala) c.1289A>C (p.Asp430Ala) c.4706A>C (p.Asp1569Ala) n.334-1671T>G c.4517A>C (p.Asp1506Ala) c.3962A>C (p.Asp1321Ala) c.2072A>C (p.Asp691Ala) c.5720A>C (p.Asp1907Ala) c.5663A>C (p.Asp1888Ala) c.5579A>C (p.Asp1860Ala) c.5351A>C (p.Asp1784Ala) c.5468A>C (p.Asp1823Ala) c.5459A>C (p.Asp1820Ala) c.5441A>C (p.Asp1814Ala) c.5435A>C (p.Asp1812Ala) c.5408A>C (p.Asp1803Ala) c.5402A>C (p.Asp1801Ala) c.5384A>C (p.Asp1795Ala) c.5378A>C (p.Asp1793Ala) c.5375A>C (p.Asp1792Ala) | |
| 12 | g.2679568A>G | CA383378742 | CACNA1C,CACNA1C-AS1 | c.5291A>G (p.Asp1764Gly) c.5216A>G (p.Asp1739Gly) c.5183A>G (p.Asp1728Gly) c.5258A>G (p.Asp1753Gly) c.5306A>G (p.Asp1769Gly) c.5450A>G (p.Asp1817Gly) c.5207A>G (p.Asp1736Gly) c.5381A>G (p.Asp1794Gly) n.1719A>G n.346A>G c.5360A>G (p.Asp1787Gly) c.5339A>G (p.Asp1780Gly) c.5240A>G (p.Asp1747Gly) c.5276A>G (p.Asp1759Gly) c.5273A>G (p.Asp1758Gly) c.5267A>G (p.Asp1756Gly) c.5300A>G (p.Asp1767Gly) c.5234A>G (p.Asp1745Gly) c.4739A>G (p.Asp1580Gly) c.4883A>G (p.Asp1628Gly) c.1289A>G (p.Asp430Gly) c.4706A>G (p.Asp1569Gly) n.334-1671T>C c.4517A>G (p.Asp1506Gly) c.3962A>G (p.Asp1321Gly) c.2072A>G (p.Asp691Gly) c.5720A>G (p.Asp1907Gly) c.5663A>G (p.Asp1888Gly) c.5579A>G (p.Asp1860Gly) c.5351A>G (p.Asp1784Gly) c.5468A>G (p.Asp1823Gly) c.5459A>G (p.Asp1820Gly) c.5441A>G (p.Asp1814Gly) c.5435A>G (p.Asp1812Gly) c.5408A>G (p.Asp1803Gly) c.5402A>G (p.Asp1801Gly) c.5384A>G (p.Asp1795Gly) c.5378A>G (p.Asp1793Gly) c.5375A>G (p.Asp1792Gly) | |
| 12 | g.2679568A>T | CA383378743 | CACNA1C,CACNA1C-AS1 | c.5291A>T (p.Asp1764Val) c.5216A>T (p.Asp1739Val) c.5183A>T (p.Asp1728Val) c.5258A>T (p.Asp1753Val) c.5306A>T (p.Asp1769Val) c.5450A>T (p.Asp1817Val) c.5207A>T (p.Asp1736Val) c.5381A>T (p.Asp1794Val) n.1719A>T n.346A>T c.5360A>T (p.Asp1787Val) c.5339A>T (p.Asp1780Val) c.5240A>T (p.Asp1747Val) c.5276A>T (p.Asp1759Val) c.5273A>T (p.Asp1758Val) c.5267A>T (p.Asp1756Val) c.5300A>T (p.Asp1767Val) c.5234A>T (p.Asp1745Val) c.4739A>T (p.Asp1580Val) c.4883A>T (p.Asp1628Val) c.1289A>T (p.Asp430Val) c.4706A>T (p.Asp1569Val) n.334-1671T>A c.4517A>T (p.Asp1506Val) c.3962A>T (p.Asp1321Val) c.2072A>T (p.Asp691Val) c.5720A>T (p.Asp1907Val) c.5663A>T (p.Asp1888Val) c.5579A>T (p.Asp1860Val) c.5351A>T (p.Asp1784Val) c.5468A>T (p.Asp1823Val) c.5459A>T (p.Asp1820Val) c.5441A>T (p.Asp1814Val) c.5435A>T (p.Asp1812Val) c.5408A>T (p.Asp1803Val) c.5402A>T (p.Asp1801Val) c.5384A>T (p.Asp1795Val) c.5378A>T (p.Asp1793Val) c.5375A>T (p.Asp1792Val) | |
| 12 | g.2679569C>A | CA383378744 | CACNA1C,CACNA1C-AS1 | c.5292C>A (p.Asp1764Glu) c.5217C>A (p.Asp1739Glu) c.5184C>A (p.Asp1728Glu) c.5259C>A (p.Asp1753Glu) c.5307C>A (p.Asp1769Glu) c.5451C>A (p.Asp1817Glu) c.5208C>A (p.Asp1736Glu) c.5382C>A (p.Asp1794Glu) n.1720C>A n.347C>A c.5361C>A (p.Asp1787Glu) c.5340C>A (p.Asp1780Glu) c.5241C>A (p.Asp1747Glu) c.5277C>A (p.Asp1759Glu) c.5274C>A (p.Asp1758Glu) c.5268C>A (p.Asp1756Glu) c.5301C>A (p.Asp1767Glu) c.5235C>A (p.Asp1745Glu) c.4740C>A (p.Asp1580Glu) c.4884C>A (p.Asp1628Glu) c.1290C>A (p.Asp430Glu) c.4707C>A (p.Asp1569Glu) n.334-1672G>T c.4518C>A (p.Asp1506Glu) c.3963C>A (p.Asp1321Glu) c.2073C>A (p.Asp691Glu) c.5721C>A (p.Asp1907Glu) c.5664C>A (p.Asp1888Glu) c.5580C>A (p.Asp1860Glu) c.5352C>A (p.Asp1784Glu) c.5469C>A (p.Asp1823Glu) c.5460C>A (p.Asp1820Glu) c.5442C>A (p.Asp1814Glu) c.5436C>A (p.Asp1812Glu) c.5409C>A (p.Asp1803Glu) c.5403C>A (p.Asp1801Glu) c.5385C>A (p.Asp1795Glu) c.5379C>A (p.Asp1793Glu) c.5376C>A (p.Asp1792Glu) | |
| 12 | g.2679569C= | CA2012347627 | CACNA1C,CACNA1C-AS1 | c.5292C= (p.Asp1764=) c.5217C= (p.Asp1739=) c.5184C= (p.Asp1728=) c.5259C= (p.Asp1753=) c.5307C= (p.Asp1769=) c.5451C= (p.Asp1817=) c.5208C= (p.Asp1736=) c.5382C= (p.Asp1794=) n.1720C= n.347C= c.5361C= (p.Asp1787=) c.5340C= (p.Asp1780=) c.5241C= (p.Asp1747=) c.5277C= (p.Asp1759=) c.5274C= (p.Asp1758=) c.5268C= (p.Asp1756=) c.5301C= (p.Asp1767=) c.5235C= (p.Asp1745=) c.4740C= (p.Asp1580=) c.4884C= (p.Asp1628=) c.1290C= (p.Asp430=) c.4707C= (p.Asp1569=) n.334-1672G= c.4518C= (p.Asp1506=) c.3963C= (p.Asp1321=) c.2073C= (p.Asp691=) c.5721C= (p.Asp1907=) c.5664C= (p.Asp1888=) c.5580C= (p.Asp1860=) c.5352C= (p.Asp1784=) c.5469C= (p.Asp1823=) c.5460C= (p.Asp1820=) c.5442C= (p.Asp1814=) c.5436C= (p.Asp1812=) c.5409C= (p.Asp1803=) c.5403C= (p.Asp1801=) c.5385C= (p.Asp1795=) c.5379C= (p.Asp1793=) c.5376C= (p.Asp1792=) | |
| 12 | g.2679569C>G | CA383378745 | CACNA1C,CACNA1C-AS1 | c.5292C>G (p.Asp1764Glu) c.5217C>G (p.Asp1739Glu) c.5184C>G (p.Asp1728Glu) c.5259C>G (p.Asp1753Glu) c.5307C>G (p.Asp1769Glu) c.5451C>G (p.Asp1817Glu) c.5208C>G (p.Asp1736Glu) c.5382C>G (p.Asp1794Glu) n.1720C>G n.347C>G c.5361C>G (p.Asp1787Glu) c.5340C>G (p.Asp1780Glu) c.5241C>G (p.Asp1747Glu) c.5277C>G (p.Asp1759Glu) c.5274C>G (p.Asp1758Glu) c.5268C>G (p.Asp1756Glu) c.5301C>G (p.Asp1767Glu) c.5235C>G (p.Asp1745Glu) c.4740C>G (p.Asp1580Glu) c.4884C>G (p.Asp1628Glu) c.1290C>G (p.Asp430Glu) c.4707C>G (p.Asp1569Glu) n.334-1672G>C c.4518C>G (p.Asp1506Glu) c.3963C>G (p.Asp1321Glu) c.2073C>G (p.Asp691Glu) c.5721C>G (p.Asp1907Glu) c.5664C>G (p.Asp1888Glu) c.5580C>G (p.Asp1860Glu) c.5352C>G (p.Asp1784Glu) c.5469C>G (p.Asp1823Glu) c.5460C>G (p.Asp1820Glu) c.5442C>G (p.Asp1814Glu) c.5436C>G (p.Asp1812Glu) c.5409C>G (p.Asp1803Glu) c.5403C>G (p.Asp1801Glu) c.5385C>G (p.Asp1795Glu) c.5379C>G (p.Asp1793Glu) c.5376C>G (p.Asp1792Glu) | |
| 12 | g.2679569C>T | CA348391 | CACNA1C,CACNA1C-AS1 | c.5292C>T (p.Asp1764=) c.5217C>T (p.Asp1739=) c.5184C>T (p.Asp1728=) c.5259C>T (p.Asp1753=) c.5307C>T (p.Asp1769=) c.5451C>T (p.Asp1817=) c.5208C>T (p.Asp1736=) c.5382C>T (p.Asp1794=) n.1720C>T n.347C>T c.5361C>T (p.Asp1787=) c.5340C>T (p.Asp1780=) c.5241C>T (p.Asp1747=) c.5277C>T (p.Asp1759=) c.5274C>T (p.Asp1758=) c.5268C>T (p.Asp1756=) c.5301C>T (p.Asp1767=) c.5235C>T (p.Asp1745=) c.4740C>T (p.Asp1580=) c.4884C>T (p.Asp1628=) c.1290C>T (p.Asp430=) c.4707C>T (p.Asp1569=) n.334-1672G>A c.4518C>T (p.Asp1506=) c.3963C>T (p.Asp1321=) c.2073C>T (p.Asp691=) c.5721C>T (p.Asp1907=) c.5664C>T (p.Asp1888=) c.5580C>T (p.Asp1860=) c.5352C>T (p.Asp1784=) c.5469C>T (p.Asp1823=) c.5460C>T (p.Asp1820=) c.5442C>T (p.Asp1814=) c.5436C>T (p.Asp1812=) c.5409C>T (p.Asp1803=) c.5403C>T (p.Asp1801=) c.5385C>T (p.Asp1795=) c.5379C>T (p.Asp1793=) c.5376C>T (p.Asp1792=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.2679570A= | CA2012347628 | CACNA1C,CACNA1C-AS1 | c.5293A= (p.Thr1765=) c.5218A= (p.Thr1740=) c.5185A= (p.Thr1729=) c.5260A= (p.Thr1754=) c.5308A= (p.Thr1770=) c.5452A= (p.Thr1818=) c.5209A= (p.Thr1737=) c.5383A= (p.Thr1795=) n.1721A= n.348A= c.5362A= (p.Thr1788=) c.5341A= (p.Thr1781=) c.5242A= (p.Thr1748=) c.5278A= (p.Thr1760=) c.5275A= (p.Thr1759=) c.5269A= (p.Thr1757=) c.5302A= (p.Thr1768=) c.5236A= (p.Thr1746=) c.4741A= (p.Thr1581=) c.4885A= (p.Thr1629=) c.1291A= (p.Thr431=) c.4708A= (p.Thr1570=) n.334-1673T= c.4519A= (p.Thr1507=) c.3964A= (p.Thr1322=) c.2074A= (p.Thr692=) c.5722A= (p.Thr1908=) c.5665A= (p.Thr1889=) c.5581A= (p.Thr1861=) c.5353A= (p.Thr1785=) c.5470A= (p.Thr1824=) c.5461A= (p.Thr1821=) c.5443A= (p.Thr1815=) c.5437A= (p.Thr1813=) c.5410A= (p.Thr1804=) c.5404A= (p.Thr1802=) c.5386A= (p.Thr1796=) c.5380A= (p.Thr1794=) c.5377A= (p.Thr1793=) | |
| 12 | g.2679570A>C | CA383378746 | CACNA1C,CACNA1C-AS1 | c.5293A>C (p.Thr1765Pro) c.5218A>C (p.Thr1740Pro) c.5185A>C (p.Thr1729Pro) c.5260A>C (p.Thr1754Pro) c.5308A>C (p.Thr1770Pro) c.5452A>C (p.Thr1818Pro) c.5209A>C (p.Thr1737Pro) c.5383A>C (p.Thr1795Pro) n.1721A>C n.348A>C c.5362A>C (p.Thr1788Pro) c.5341A>C (p.Thr1781Pro) c.5242A>C (p.Thr1748Pro) c.5278A>C (p.Thr1760Pro) c.5275A>C (p.Thr1759Pro) c.5269A>C (p.Thr1757Pro) c.5302A>C (p.Thr1768Pro) c.5236A>C (p.Thr1746Pro) c.4741A>C (p.Thr1581Pro) c.4885A>C (p.Thr1629Pro) c.1291A>C (p.Thr431Pro) c.4708A>C (p.Thr1570Pro) n.334-1673T>G c.4519A>C (p.Thr1507Pro) c.3964A>C (p.Thr1322Pro) c.2074A>C (p.Thr692Pro) c.5722A>C (p.Thr1908Pro) c.5665A>C (p.Thr1889Pro) c.5581A>C (p.Thr1861Pro) c.5353A>C (p.Thr1785Pro) c.5470A>C (p.Thr1824Pro) c.5461A>C (p.Thr1821Pro) c.5443A>C (p.Thr1815Pro) c.5437A>C (p.Thr1813Pro) c.5410A>C (p.Thr1804Pro) c.5404A>C (p.Thr1802Pro) c.5386A>C (p.Thr1796Pro) c.5380A>C (p.Thr1794Pro) c.5377A>C (p.Thr1793Pro) | dbSNP |
| 12 | g.2679570A>G | CA383378747 | CACNA1C,CACNA1C-AS1 | c.5293A>G (p.Thr1765Ala) c.5218A>G (p.Thr1740Ala) c.5185A>G (p.Thr1729Ala) c.5260A>G (p.Thr1754Ala) c.5308A>G (p.Thr1770Ala) c.5452A>G (p.Thr1818Ala) c.5209A>G (p.Thr1737Ala) c.5383A>G (p.Thr1795Ala) n.1721A>G n.348A>G c.5362A>G (p.Thr1788Ala) c.5341A>G (p.Thr1781Ala) c.5242A>G (p.Thr1748Ala) c.5278A>G (p.Thr1760Ala) c.5275A>G (p.Thr1759Ala) c.5269A>G (p.Thr1757Ala) c.5302A>G (p.Thr1768Ala) c.5236A>G (p.Thr1746Ala) c.4741A>G (p.Thr1581Ala) c.4885A>G (p.Thr1629Ala) c.1291A>G (p.Thr431Ala) c.4708A>G (p.Thr1570Ala) n.334-1673T>C c.4519A>G (p.Thr1507Ala) c.3964A>G (p.Thr1322Ala) c.2074A>G (p.Thr692Ala) c.5722A>G (p.Thr1908Ala) c.5665A>G (p.Thr1889Ala) c.5581A>G (p.Thr1861Ala) c.5353A>G (p.Thr1785Ala) c.5470A>G (p.Thr1824Ala) c.5461A>G (p.Thr1821Ala) c.5443A>G (p.Thr1815Ala) c.5437A>G (p.Thr1813Ala) c.5410A>G (p.Thr1804Ala) c.5404A>G (p.Thr1802Ala) c.5386A>G (p.Thr1796Ala) c.5380A>G (p.Thr1794Ala) c.5377A>G (p.Thr1793Ala) | |
| 12 | g.2679570A>T | CA383378748 | CACNA1C,CACNA1C-AS1 | c.5293A>T (p.Thr1765Ser) c.5218A>T (p.Thr1740Ser) c.5185A>T (p.Thr1729Ser) c.5260A>T (p.Thr1754Ser) c.5308A>T (p.Thr1770Ser) c.5452A>T (p.Thr1818Ser) c.5209A>T (p.Thr1737Ser) c.5383A>T (p.Thr1795Ser) n.1721A>T n.348A>T c.5362A>T (p.Thr1788Ser) c.5341A>T (p.Thr1781Ser) c.5242A>T (p.Thr1748Ser) c.5278A>T (p.Thr1760Ser) c.5275A>T (p.Thr1759Ser) c.5269A>T (p.Thr1757Ser) c.5302A>T (p.Thr1768Ser) c.5236A>T (p.Thr1746Ser) c.4741A>T (p.Thr1581Ser) c.4885A>T (p.Thr1629Ser) c.1291A>T (p.Thr431Ser) c.4708A>T (p.Thr1570Ser) n.334-1673T>A c.4519A>T (p.Thr1507Ser) c.3964A>T (p.Thr1322Ser) c.2074A>T (p.Thr692Ser) c.5722A>T (p.Thr1908Ser) c.5665A>T (p.Thr1889Ser) c.5581A>T (p.Thr1861Ser) c.5353A>T (p.Thr1785Ser) c.5470A>T (p.Thr1824Ser) c.5461A>T (p.Thr1821Ser) c.5443A>T (p.Thr1815Ser) c.5437A>T (p.Thr1813Ser) c.5410A>T (p.Thr1804Ser) c.5404A>T (p.Thr1802Ser) c.5386A>T (p.Thr1796Ser) c.5380A>T (p.Thr1794Ser) c.5377A>T (p.Thr1793Ser) | |
| 12 | g.2679571C>A | CA383378750 | CACNA1C,CACNA1C-AS1 | c.5294C>A (p.Thr1765Asn) c.5219C>A (p.Thr1740Asn) c.5186C>A (p.Thr1729Asn) c.5261C>A (p.Thr1754Asn) c.5309C>A (p.Thr1770Asn) c.5453C>A (p.Thr1818Asn) c.5210C>A (p.Thr1737Asn) c.5384C>A (p.Thr1795Asn) n.1722C>A n.349C>A c.5363C>A (p.Thr1788Asn) c.5342C>A (p.Thr1781Asn) c.5243C>A (p.Thr1748Asn) c.5279C>A (p.Thr1760Asn) c.5276C>A (p.Thr1759Asn) c.5270C>A (p.Thr1757Asn) c.5303C>A (p.Thr1768Asn) c.5237C>A (p.Thr1746Asn) c.4742C>A (p.Thr1581Asn) c.4886C>A (p.Thr1629Asn) c.1292C>A (p.Thr431Asn) c.4709C>A (p.Thr1570Asn) n.334-1674G>T c.4520C>A (p.Thr1507Asn) c.3965C>A (p.Thr1322Asn) c.2075C>A (p.Thr692Asn) c.5723C>A (p.Thr1908Asn) c.5666C>A (p.Thr1889Asn) c.5582C>A (p.Thr1861Asn) c.5354C>A (p.Thr1785Asn) c.5471C>A (p.Thr1824Asn) c.5462C>A (p.Thr1821Asn) c.5444C>A (p.Thr1815Asn) c.5438C>A (p.Thr1813Asn) c.5411C>A (p.Thr1804Asn) c.5405C>A (p.Thr1802Asn) c.5387C>A (p.Thr1796Asn) c.5381C>A (p.Thr1794Asn) c.5378C>A (p.Thr1793Asn) | |
| 12 | g.2679571C>G | CA383378751 | CACNA1C,CACNA1C-AS1 | c.5294C>G (p.Thr1765Ser) c.5219C>G (p.Thr1740Ser) c.5186C>G (p.Thr1729Ser) c.5261C>G (p.Thr1754Ser) c.5309C>G (p.Thr1770Ser) c.5453C>G (p.Thr1818Ser) c.5210C>G (p.Thr1737Ser) c.5384C>G (p.Thr1795Ser) n.1722C>G n.349C>G c.5363C>G (p.Thr1788Ser) c.5342C>G (p.Thr1781Ser) c.5243C>G (p.Thr1748Ser) c.5279C>G (p.Thr1760Ser) c.5276C>G (p.Thr1759Ser) c.5270C>G (p.Thr1757Ser) c.5303C>G (p.Thr1768Ser) c.5237C>G (p.Thr1746Ser) c.4742C>G (p.Thr1581Ser) c.4886C>G (p.Thr1629Ser) c.1292C>G (p.Thr431Ser) c.4709C>G (p.Thr1570Ser) n.334-1674G>C c.4520C>G (p.Thr1507Ser) c.3965C>G (p.Thr1322Ser) c.2075C>G (p.Thr692Ser) c.5723C>G (p.Thr1908Ser) c.5666C>G (p.Thr1889Ser) c.5582C>G (p.Thr1861Ser) c.5354C>G (p.Thr1785Ser) c.5471C>G (p.Thr1824Ser) c.5462C>G (p.Thr1821Ser) c.5444C>G (p.Thr1815Ser) c.5438C>G (p.Thr1813Ser) c.5411C>G (p.Thr1804Ser) c.5405C>G (p.Thr1802Ser) c.5387C>G (p.Thr1796Ser) c.5381C>G (p.Thr1794Ser) c.5378C>G (p.Thr1793Ser) | |
| 12 | g.2679571C>T | CA383378749 | CACNA1C,CACNA1C-AS1 | c.5294C>T (p.Thr1765Ile) c.5219C>T (p.Thr1740Ile) c.5186C>T (p.Thr1729Ile) c.5261C>T (p.Thr1754Ile) c.5309C>T (p.Thr1770Ile) c.5453C>T (p.Thr1818Ile) c.5210C>T (p.Thr1737Ile) c.5384C>T (p.Thr1795Ile) n.1722C>T n.349C>T c.5363C>T (p.Thr1788Ile) c.5342C>T (p.Thr1781Ile) c.5243C>T (p.Thr1748Ile) c.5279C>T (p.Thr1760Ile) c.5276C>T (p.Thr1759Ile) c.5270C>T (p.Thr1757Ile) c.5303C>T (p.Thr1768Ile) c.5237C>T (p.Thr1746Ile) c.4742C>T (p.Thr1581Ile) c.4886C>T (p.Thr1629Ile) c.1292C>T (p.Thr431Ile) c.4709C>T (p.Thr1570Ile) n.334-1674G>A c.4520C>T (p.Thr1507Ile) c.3965C>T (p.Thr1322Ile) c.2075C>T (p.Thr692Ile) c.5723C>T (p.Thr1908Ile) c.5666C>T (p.Thr1889Ile) c.5582C>T (p.Thr1861Ile) c.5354C>T (p.Thr1785Ile) c.5471C>T (p.Thr1824Ile) c.5462C>T (p.Thr1821Ile) c.5444C>T (p.Thr1815Ile) c.5438C>T (p.Thr1813Ile) c.5411C>T (p.Thr1804Ile) c.5405C>T (p.Thr1802Ile) c.5387C>T (p.Thr1796Ile) c.5381C>T (p.Thr1794Ile) c.5378C>T (p.Thr1793Ile) | gnomAD v4 |
| 12 | g.2679572T>A | CA478087784 | CACNA1C,CACNA1C-AS1 | c.5295T>A (p.Thr1765=) c.5220T>A (p.Thr1740=) c.5187T>A (p.Thr1729=) c.5262T>A (p.Thr1754=) c.5310T>A (p.Thr1770=) c.5454T>A (p.Thr1818=) c.5211T>A (p.Thr1737=) c.5385T>A (p.Thr1795=) n.1723T>A n.350T>A c.5364T>A (p.Thr1788=) c.5343T>A (p.Thr1781=) c.5244T>A (p.Thr1748=) c.5280T>A (p.Thr1760=) c.5277T>A (p.Thr1759=) c.5271T>A (p.Thr1757=) c.5304T>A (p.Thr1768=) c.5238T>A (p.Thr1746=) c.4743T>A (p.Thr1581=) c.4887T>A (p.Thr1629=) c.1293T>A (p.Thr431=) c.4710T>A (p.Thr1570=) n.334-1675A>T c.4521T>A (p.Thr1507=) c.3966T>A (p.Thr1322=) c.2076T>A (p.Thr692=) c.5724T>A (p.Thr1908=) c.5667T>A (p.Thr1889=) c.5583T>A (p.Thr1861=) c.5355T>A (p.Thr1785=) c.5472T>A (p.Thr1824=) c.5463T>A (p.Thr1821=) c.5445T>A (p.Thr1815=) c.5439T>A (p.Thr1813=) c.5412T>A (p.Thr1804=) c.5406T>A (p.Thr1802=) c.5388T>A (p.Thr1796=) c.5382T>A (p.Thr1794=) c.5379T>A (p.Thr1793=) | |
| 12 | g.2679572T>C | CA478087786 | CACNA1C,CACNA1C-AS1 | c.5295T>C (p.Thr1765=) c.5220T>C (p.Thr1740=) c.5187T>C (p.Thr1729=) c.5262T>C (p.Thr1754=) c.5310T>C (p.Thr1770=) c.5454T>C (p.Thr1818=) c.5211T>C (p.Thr1737=) c.5385T>C (p.Thr1795=) n.1723T>C n.350T>C c.5364T>C (p.Thr1788=) c.5343T>C (p.Thr1781=) c.5244T>C (p.Thr1748=) c.5280T>C (p.Thr1760=) c.5277T>C (p.Thr1759=) c.5271T>C (p.Thr1757=) c.5304T>C (p.Thr1768=) c.5238T>C (p.Thr1746=) c.4743T>C (p.Thr1581=) c.4887T>C (p.Thr1629=) c.1293T>C (p.Thr431=) c.4710T>C (p.Thr1570=) n.334-1675A>G c.4521T>C (p.Thr1507=) c.3966T>C (p.Thr1322=) c.2076T>C (p.Thr692=) c.5724T>C (p.Thr1908=) c.5667T>C (p.Thr1889=) c.5583T>C (p.Thr1861=) c.5355T>C (p.Thr1785=) c.5472T>C (p.Thr1824=) c.5463T>C (p.Thr1821=) c.5445T>C (p.Thr1815=) c.5439T>C (p.Thr1813=) c.5412T>C (p.Thr1804=) c.5406T>C (p.Thr1802=) c.5388T>C (p.Thr1796=) c.5382T>C (p.Thr1794=) c.5379T>C (p.Thr1793=) | dbSNP |
| 12 | g.2679572T>G | CA478087788 | CACNA1C,CACNA1C-AS1 | c.5295T>G (p.Thr1765=) c.5220T>G (p.Thr1740=) c.5187T>G (p.Thr1729=) c.5262T>G (p.Thr1754=) c.5310T>G (p.Thr1770=) c.5454T>G (p.Thr1818=) c.5211T>G (p.Thr1737=) c.5385T>G (p.Thr1795=) n.1723T>G n.350T>G c.5364T>G (p.Thr1788=) c.5343T>G (p.Thr1781=) c.5244T>G (p.Thr1748=) c.5280T>G (p.Thr1760=) c.5277T>G (p.Thr1759=) c.5271T>G (p.Thr1757=) c.5304T>G (p.Thr1768=) c.5238T>G (p.Thr1746=) c.4743T>G (p.Thr1581=) c.4887T>G (p.Thr1629=) c.1293T>G (p.Thr431=) c.4710T>G (p.Thr1570=) n.334-1675A>C c.4521T>G (p.Thr1507=) c.3966T>G (p.Thr1322=) c.2076T>G (p.Thr692=) c.5724T>G (p.Thr1908=) c.5667T>G (p.Thr1889=) c.5583T>G (p.Thr1861=) c.5355T>G (p.Thr1785=) c.5472T>G (p.Thr1824=) c.5463T>G (p.Thr1821=) c.5445T>G (p.Thr1815=) c.5439T>G (p.Thr1813=) c.5412T>G (p.Thr1804=) c.5406T>G (p.Thr1802=) c.5388T>G (p.Thr1796=) c.5382T>G (p.Thr1794=) c.5379T>G (p.Thr1793=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.2679572T= | CA2012347629 | CACNA1C,CACNA1C-AS1 | c.5295T= (p.Thr1765=) c.5220T= (p.Thr1740=) c.5187T= (p.Thr1729=) c.5262T= (p.Thr1754=) c.5310T= (p.Thr1770=) c.5454T= (p.Thr1818=) c.5211T= (p.Thr1737=) c.5385T= (p.Thr1795=) n.1723T= n.350T= c.5364T= (p.Thr1788=) c.5343T= (p.Thr1781=) c.5244T= (p.Thr1748=) c.5280T= (p.Thr1760=) c.5277T= (p.Thr1759=) c.5271T= (p.Thr1757=) c.5304T= (p.Thr1768=) c.5238T= (p.Thr1746=) c.4743T= (p.Thr1581=) c.4887T= (p.Thr1629=) c.1293T= (p.Thr431=) c.4710T= (p.Thr1570=) n.334-1675A= c.4521T= (p.Thr1507=) c.3966T= (p.Thr1322=) c.2076T= (p.Thr692=) c.5724T= (p.Thr1908=) c.5667T= (p.Thr1889=) c.5583T= (p.Thr1861=) c.5355T= (p.Thr1785=) c.5472T= (p.Thr1824=) c.5463T= (p.Thr1821=) c.5445T= (p.Thr1815=) c.5439T= (p.Thr1813=) c.5412T= (p.Thr1804=) c.5406T= (p.Thr1802=) c.5388T= (p.Thr1796=) c.5382T= (p.Thr1794=) c.5379T= (p.Thr1793=) | |
| 12 | g.2679573G>A | CA383378752 | CACNA1C,CACNA1C-AS1 | c.5296G>A (p.Glu1766Lys) c.5221G>A (p.Glu1741Lys) c.5188G>A (p.Glu1730Lys) c.5263G>A (p.Glu1755Lys) c.5311G>A (p.Glu1771Lys) c.5455G>A (p.Glu1819Lys) c.5212G>A (p.Glu1738Lys) c.5386G>A (p.Glu1796Lys) n.1724G>A n.351G>A c.5365G>A (p.Glu1789Lys) c.5344G>A (p.Glu1782Lys) c.5245G>A (p.Glu1749Lys) c.5281G>A (p.Glu1761Lys) c.5278G>A (p.Glu1760Lys) c.5272G>A (p.Glu1758Lys) c.5305G>A (p.Glu1769Lys) c.5239G>A (p.Glu1747Lys) c.4744G>A (p.Glu1582Lys) c.4888G>A (p.Glu1630Lys) c.1294G>A (p.Glu432Lys) c.4711G>A (p.Glu1571Lys) n.334-1676C>T c.4522G>A (p.Glu1508Lys) c.3967G>A (p.Glu1323Lys) c.2077G>A (p.Glu693Lys) c.5725G>A (p.Glu1909Lys) c.5668G>A (p.Glu1890Lys) c.5584G>A (p.Glu1862Lys) c.5356G>A (p.Glu1786Lys) c.5473G>A (p.Glu1825Lys) c.5464G>A (p.Glu1822Lys) c.5446G>A (p.Glu1816Lys) c.5440G>A (p.Glu1814Lys) c.5413G>A (p.Glu1805Lys) c.5407G>A (p.Glu1803Lys) c.5389G>A (p.Glu1797Lys) c.5383G>A (p.Glu1795Lys) c.5380G>A (p.Glu1794Lys) | dbSNP gnomAD v4 |
| 12 | g.2679573G>C | CA383378753 | CACNA1C,CACNA1C-AS1 | c.5296G>C (p.Glu1766Gln) c.5221G>C (p.Glu1741Gln) c.5188G>C (p.Glu1730Gln) c.5263G>C (p.Glu1755Gln) c.5311G>C (p.Glu1771Gln) c.5455G>C (p.Glu1819Gln) c.5212G>C (p.Glu1738Gln) c.5386G>C (p.Glu1796Gln) n.1724G>C n.351G>C c.5365G>C (p.Glu1789Gln) c.5344G>C (p.Glu1782Gln) c.5245G>C (p.Glu1749Gln) c.5281G>C (p.Glu1761Gln) c.5278G>C (p.Glu1760Gln) c.5272G>C (p.Glu1758Gln) c.5305G>C (p.Glu1769Gln) c.5239G>C (p.Glu1747Gln) c.4744G>C (p.Glu1582Gln) c.4888G>C (p.Glu1630Gln) c.1294G>C (p.Glu432Gln) c.4711G>C (p.Glu1571Gln) n.334-1676C>G c.4522G>C (p.Glu1508Gln) c.3967G>C (p.Glu1323Gln) c.2077G>C (p.Glu693Gln) c.5725G>C (p.Glu1909Gln) c.5668G>C (p.Glu1890Gln) c.5584G>C (p.Glu1862Gln) c.5356G>C (p.Glu1786Gln) c.5473G>C (p.Glu1825Gln) c.5464G>C (p.Glu1822Gln) c.5446G>C (p.Glu1816Gln) c.5440G>C (p.Glu1814Gln) c.5413G>C (p.Glu1805Gln) c.5407G>C (p.Glu1803Gln) c.5389G>C (p.Glu1797Gln) c.5383G>C (p.Glu1795Gln) c.5380G>C (p.Glu1794Gln) | |
| 12 | g.2679573G= | CA2012347630 | CACNA1C,CACNA1C-AS1 | c.5296G= (p.Glu1766=) c.5221G= (p.Glu1741=) c.5188G= (p.Glu1730=) c.5263G= (p.Glu1755=) c.5311G= (p.Glu1771=) c.5455G= (p.Glu1819=) c.5212G= (p.Glu1738=) c.5386G= (p.Glu1796=) n.1724G= n.351G= c.5365G= (p.Glu1789=) c.5344G= (p.Glu1782=) c.5245G= (p.Glu1749=) c.5281G= (p.Glu1761=) c.5278G= (p.Glu1760=) c.5272G= (p.Glu1758=) c.5305G= (p.Glu1769=) c.5239G= (p.Glu1747=) c.4744G= (p.Glu1582=) c.4888G= (p.Glu1630=) c.1294G= (p.Glu432=) c.4711G= (p.Glu1571=) n.334-1676C= c.4522G= (p.Glu1508=) c.3967G= (p.Glu1323=) c.2077G= (p.Glu693=) c.5725G= (p.Glu1909=) c.5668G= (p.Glu1890=) c.5584G= (p.Glu1862=) c.5356G= (p.Glu1786=) c.5473G= (p.Glu1825=) c.5464G= (p.Glu1822=) c.5446G= (p.Glu1816=) c.5440G= (p.Glu1814=) c.5413G= (p.Glu1805=) c.5407G= (p.Glu1803=) c.5389G= (p.Glu1797=) c.5383G= (p.Glu1795=) c.5380G= (p.Glu1794=) | |
| 12 | g.2679573G>T | CA383378754 | CACNA1C,CACNA1C-AS1 | c.5296G>T (p.Glu1766Ter) c.5221G>T (p.Glu1741Ter) c.5188G>T (p.Glu1730Ter) c.5263G>T (p.Glu1755Ter) c.5311G>T (p.Glu1771Ter) c.5455G>T (p.Glu1819Ter) c.5212G>T (p.Glu1738Ter) c.5386G>T (p.Glu1796Ter) n.1724G>T n.351G>T c.5365G>T (p.Glu1789Ter) c.5344G>T (p.Glu1782Ter) c.5245G>T (p.Glu1749Ter) c.5281G>T (p.Glu1761Ter) c.5278G>T (p.Glu1760Ter) c.5272G>T (p.Glu1758Ter) c.5305G>T (p.Glu1769Ter) c.5239G>T (p.Glu1747Ter) c.4744G>T (p.Glu1582Ter) c.4888G>T (p.Glu1630Ter) c.1294G>T (p.Glu432Ter) c.4711G>T (p.Glu1571Ter) n.334-1676C>A c.4522G>T (p.Glu1508Ter) c.3967G>T (p.Glu1323Ter) c.2077G>T (p.Glu693Ter) c.5725G>T (p.Glu1909Ter) c.5668G>T (p.Glu1890Ter) c.5584G>T (p.Glu1862Ter) c.5356G>T (p.Glu1786Ter) c.5473G>T (p.Glu1825Ter) c.5464G>T (p.Glu1822Ter) c.5446G>T (p.Glu1816Ter) c.5440G>T (p.Glu1814Ter) c.5413G>T (p.Glu1805Ter) c.5407G>T (p.Glu1803Ter) c.5389G>T (p.Glu1797Ter) c.5383G>T (p.Glu1795Ter) c.5380G>T (p.Glu1794Ter) | dbSNP |
| 12 | g.2679574A>C | CA383378755 | CACNA1C,CACNA1C-AS1 | c.5297A>C (p.Glu1766Ala) c.5222A>C (p.Glu1741Ala) c.5189A>C (p.Glu1730Ala) c.5264A>C (p.Glu1755Ala) c.5312A>C (p.Glu1771Ala) c.5456A>C (p.Glu1819Ala) c.5213A>C (p.Glu1738Ala) c.5387A>C (p.Glu1796Ala) n.1725A>C n.352A>C c.5366A>C (p.Glu1789Ala) c.5345A>C (p.Glu1782Ala) c.5246A>C (p.Glu1749Ala) c.5282A>C (p.Glu1761Ala) c.5279A>C (p.Glu1760Ala) c.5273A>C (p.Glu1758Ala) c.5306A>C (p.Glu1769Ala) c.5240A>C (p.Glu1747Ala) c.4745A>C (p.Glu1582Ala) c.4889A>C (p.Glu1630Ala) c.1295A>C (p.Glu432Ala) c.4712A>C (p.Glu1571Ala) n.334-1677T>G c.4523A>C (p.Glu1508Ala) c.3968A>C (p.Glu1323Ala) c.2078A>C (p.Glu693Ala) c.5726A>C (p.Glu1909Ala) c.5669A>C (p.Glu1890Ala) c.5585A>C (p.Glu1862Ala) c.5357A>C (p.Glu1786Ala) c.5474A>C (p.Glu1825Ala) c.5465A>C (p.Glu1822Ala) c.5447A>C (p.Glu1816Ala) c.5441A>C (p.Glu1814Ala) c.5414A>C (p.Glu1805Ala) c.5408A>C (p.Glu1803Ala) c.5390A>C (p.Glu1797Ala) c.5384A>C (p.Glu1795Ala) c.5381A>C (p.Glu1794Ala) | |
| 12 | g.2679574A>G | CA383378756 | CACNA1C,CACNA1C-AS1 | c.5297A>G (p.Glu1766Gly) c.5222A>G (p.Glu1741Gly) c.5189A>G (p.Glu1730Gly) c.5264A>G (p.Glu1755Gly) c.5312A>G (p.Glu1771Gly) c.5456A>G (p.Glu1819Gly) c.5213A>G (p.Glu1738Gly) c.5387A>G (p.Glu1796Gly) n.1725A>G n.352A>G c.5366A>G (p.Glu1789Gly) c.5345A>G (p.Glu1782Gly) c.5246A>G (p.Glu1749Gly) c.5282A>G (p.Glu1761Gly) c.5279A>G (p.Glu1760Gly) c.5273A>G (p.Glu1758Gly) c.5306A>G (p.Glu1769Gly) c.5240A>G (p.Glu1747Gly) c.4745A>G (p.Glu1582Gly) c.4889A>G (p.Glu1630Gly) c.1295A>G (p.Glu432Gly) c.4712A>G (p.Glu1571Gly) n.334-1677T>C c.4523A>G (p.Glu1508Gly) c.3968A>G (p.Glu1323Gly) c.2078A>G (p.Glu693Gly) c.5726A>G (p.Glu1909Gly) c.5669A>G (p.Glu1890Gly) c.5585A>G (p.Glu1862Gly) c.5357A>G (p.Glu1786Gly) c.5474A>G (p.Glu1825Gly) c.5465A>G (p.Glu1822Gly) c.5447A>G (p.Glu1816Gly) c.5441A>G (p.Glu1814Gly) c.5414A>G (p.Glu1805Gly) c.5408A>G (p.Glu1803Gly) c.5390A>G (p.Glu1797Gly) c.5384A>G (p.Glu1795Gly) c.5381A>G (p.Glu1794Gly) | |
| 12 | g.2679574A>T | CA383378757 | CACNA1C,CACNA1C-AS1 | c.5297A>T (p.Glu1766Val) c.5222A>T (p.Glu1741Val) c.5189A>T (p.Glu1730Val) c.5264A>T (p.Glu1755Val) c.5312A>T (p.Glu1771Val) c.5456A>T (p.Glu1819Val) c.5213A>T (p.Glu1738Val) c.5387A>T (p.Glu1796Val) n.1725A>T n.352A>T c.5366A>T (p.Glu1789Val) c.5345A>T (p.Glu1782Val) c.5246A>T (p.Glu1749Val) c.5282A>T (p.Glu1761Val) c.5279A>T (p.Glu1760Val) c.5273A>T (p.Glu1758Val) c.5306A>T (p.Glu1769Val) c.5240A>T (p.Glu1747Val) c.4745A>T (p.Glu1582Val) c.4889A>T (p.Glu1630Val) c.1295A>T (p.Glu432Val) c.4712A>T (p.Glu1571Val) n.334-1677T>A c.4523A>T (p.Glu1508Val) c.3968A>T (p.Glu1323Val) c.2078A>T (p.Glu693Val) c.5726A>T (p.Glu1909Val) c.5669A>T (p.Glu1890Val) c.5585A>T (p.Glu1862Val) c.5357A>T (p.Glu1786Val) c.5474A>T (p.Glu1825Val) c.5465A>T (p.Glu1822Val) c.5447A>T (p.Glu1816Val) c.5441A>T (p.Glu1814Val) c.5414A>T (p.Glu1805Val) c.5408A>T (p.Glu1803Val) c.5390A>T (p.Glu1797Val) c.5384A>T (p.Glu1795Val) c.5381A>T (p.Glu1794Val) | |
| 12 | g.2679575G>A | CA478087789 | CACNA1C,CACNA1C-AS1 | c.5298G>A (p.Glu1766=) c.5223G>A (p.Glu1741=) c.5190G>A (p.Glu1730=) c.5265G>A (p.Glu1755=) c.5313G>A (p.Glu1771=) c.5457G>A (p.Glu1819=) c.5214G>A (p.Glu1738=) c.5388G>A (p.Glu1796=) n.1726G>A n.353G>A c.5367G>A (p.Glu1789=) c.5346G>A (p.Glu1782=) c.5247G>A (p.Glu1749=) c.5283G>A (p.Glu1761=) c.5280G>A (p.Glu1760=) c.5274G>A (p.Glu1758=) c.5307G>A (p.Glu1769=) c.5241G>A (p.Glu1747=) c.4746G>A (p.Glu1582=) c.4890G>A (p.Glu1630=) c.1296G>A (p.Glu432=) c.4713G>A (p.Glu1571=) n.334-1678C>T c.4524G>A (p.Glu1508=) c.3969G>A (p.Glu1323=) c.2079G>A (p.Glu693=) c.5727G>A (p.Glu1909=) c.5670G>A (p.Glu1890=) c.5586G>A (p.Glu1862=) c.5358G>A (p.Glu1786=) c.5475G>A (p.Glu1825=) c.5466G>A (p.Glu1822=) c.5448G>A (p.Glu1816=) c.5442G>A (p.Glu1814=) c.5415G>A (p.Glu1805=) c.5409G>A (p.Glu1803=) c.5391G>A (p.Glu1797=) c.5385G>A (p.Glu1795=) c.5382G>A (p.Glu1794=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.2679575G>C | CA383378758 | CACNA1C,CACNA1C-AS1 | c.5298G>C (p.Glu1766Asp) c.5223G>C (p.Glu1741Asp) c.5190G>C (p.Glu1730Asp) c.5265G>C (p.Glu1755Asp) c.5313G>C (p.Glu1771Asp) c.5457G>C (p.Glu1819Asp) c.5214G>C (p.Glu1738Asp) c.5388G>C (p.Glu1796Asp) n.1726G>C n.353G>C c.5367G>C (p.Glu1789Asp) c.5346G>C (p.Glu1782Asp) c.5247G>C (p.Glu1749Asp) c.5283G>C (p.Glu1761Asp) c.5280G>C (p.Glu1760Asp) c.5274G>C (p.Glu1758Asp) c.5307G>C (p.Glu1769Asp) c.5241G>C (p.Glu1747Asp) c.4746G>C (p.Glu1582Asp) c.4890G>C (p.Glu1630Asp) c.1296G>C (p.Glu432Asp) c.4713G>C (p.Glu1571Asp) n.334-1678C>G c.4524G>C (p.Glu1508Asp) c.3969G>C (p.Glu1323Asp) c.2079G>C (p.Glu693Asp) c.5727G>C (p.Glu1909Asp) c.5670G>C (p.Glu1890Asp) c.5586G>C (p.Glu1862Asp) c.5358G>C (p.Glu1786Asp) c.5475G>C (p.Glu1825Asp) c.5466G>C (p.Glu1822Asp) c.5448G>C (p.Glu1816Asp) c.5442G>C (p.Glu1814Asp) c.5415G>C (p.Glu1805Asp) c.5409G>C (p.Glu1803Asp) c.5391G>C (p.Glu1797Asp) c.5385G>C (p.Glu1795Asp) c.5382G>C (p.Glu1794Asp) | |
| 12 | g.2679575G= | CA2012347631 | CACNA1C,CACNA1C-AS1 | c.5298G= (p.Glu1766=) c.5223G= (p.Glu1741=) c.5190G= (p.Glu1730=) c.5265G= (p.Glu1755=) c.5313G= (p.Glu1771=) c.5457G= (p.Glu1819=) c.5214G= (p.Glu1738=) c.5388G= (p.Glu1796=) n.1726G= n.353G= c.5367G= (p.Glu1789=) c.5346G= (p.Glu1782=) c.5247G= (p.Glu1749=) c.5283G= (p.Glu1761=) c.5280G= (p.Glu1760=) c.5274G= (p.Glu1758=) c.5307G= (p.Glu1769=) c.5241G= (p.Glu1747=) c.4746G= (p.Glu1582=) c.4890G= (p.Glu1630=) c.1296G= (p.Glu432=) c.4713G= (p.Glu1571=) n.334-1678C= c.4524G= (p.Glu1508=) c.3969G= (p.Glu1323=) c.2079G= (p.Glu693=) c.5727G= (p.Glu1909=) c.5670G= (p.Glu1890=) c.5586G= (p.Glu1862=) c.5358G= (p.Glu1786=) c.5475G= (p.Glu1825=) c.5466G= (p.Glu1822=) c.5448G= (p.Glu1816=) c.5442G= (p.Glu1814=) c.5415G= (p.Glu1805=) c.5409G= (p.Glu1803=) c.5391G= (p.Glu1797=) c.5385G= (p.Glu1795=) c.5382G= (p.Glu1794=) | |
| 12 | g.2679575G>T | CA383378759 | CACNA1C,CACNA1C-AS1 | c.5298G>T (p.Glu1766Asp) c.5223G>T (p.Glu1741Asp) c.5190G>T (p.Glu1730Asp) c.5265G>T (p.Glu1755Asp) c.5313G>T (p.Glu1771Asp) c.5457G>T (p.Glu1819Asp) c.5214G>T (p.Glu1738Asp) c.5388G>T (p.Glu1796Asp) n.1726G>T n.353G>T c.5367G>T (p.Glu1789Asp) c.5346G>T (p.Glu1782Asp) c.5247G>T (p.Glu1749Asp) c.5283G>T (p.Glu1761Asp) c.5280G>T (p.Glu1760Asp) c.5274G>T (p.Glu1758Asp) c.5307G>T (p.Glu1769Asp) c.5241G>T (p.Glu1747Asp) c.4746G>T (p.Glu1582Asp) c.4890G>T (p.Glu1630Asp) c.1296G>T (p.Glu432Asp) c.4713G>T (p.Glu1571Asp) n.334-1678C>A c.4524G>T (p.Glu1508Asp) c.3969G>T (p.Glu1323Asp) c.2079G>T (p.Glu693Asp) c.5727G>T (p.Glu1909Asp) c.5670G>T (p.Glu1890Asp) c.5586G>T (p.Glu1862Asp) c.5358G>T (p.Glu1786Asp) c.5475G>T (p.Glu1825Asp) c.5466G>T (p.Glu1822Asp) c.5448G>T (p.Glu1816Asp) c.5442G>T (p.Glu1814Asp) c.5415G>T (p.Glu1805Asp) c.5409G>T (p.Glu1803Asp) c.5391G>T (p.Glu1797Asp) c.5385G>T (p.Glu1795Asp) c.5382G>T (p.Glu1794Asp) | |
| 12 | g.2679576T>A | CA383378760 | CACNA1C,CACNA1C-AS1 | c.5299T>A (p.Ser1767Thr) c.5224T>A (p.Ser1742Thr) c.5191T>A (p.Ser1731Thr) c.5266T>A (p.Ser1756Thr) c.5314T>A (p.Ser1772Thr) c.5458T>A (p.Ser1820Thr) c.5215T>A (p.Ser1739Thr) c.5389T>A (p.Ser1797Thr) n.1727T>A n.354T>A c.5368T>A (p.Ser1790Thr) c.5347T>A (p.Ser1783Thr) c.5248T>A (p.Ser1750Thr) c.5284T>A (p.Ser1762Thr) c.5281T>A (p.Ser1761Thr) c.5275T>A (p.Ser1759Thr) c.5308T>A (p.Ser1770Thr) c.5242T>A (p.Ser1748Thr) c.4747T>A (p.Ser1583Thr) c.4891T>A (p.Ser1631Thr) c.1297T>A (p.Ser433Thr) c.4714T>A (p.Ser1572Thr) n.334-1679A>T c.4525T>A (p.Ser1509Thr) c.3970T>A (p.Ser1324Thr) c.2080T>A (p.Ser694Thr) c.5728T>A (p.Ser1910Thr) c.5671T>A (p.Ser1891Thr) c.5587T>A (p.Ser1863Thr) c.5359T>A (p.Ser1787Thr) c.5476T>A (p.Ser1826Thr) c.5467T>A (p.Ser1823Thr) c.5449T>A (p.Ser1817Thr) c.5443T>A (p.Ser1815Thr) c.5416T>A (p.Ser1806Thr) c.5410T>A (p.Ser1804Thr) c.5392T>A (p.Ser1798Thr) c.5386T>A (p.Ser1796Thr) c.5383T>A (p.Ser1795Thr) | |
| 12 | g.2679576T>C | CA383378761 | CACNA1C,CACNA1C-AS1 | c.5299T>C (p.Ser1767Pro) c.5224T>C (p.Ser1742Pro) c.5191T>C (p.Ser1731Pro) c.5266T>C (p.Ser1756Pro) c.5314T>C (p.Ser1772Pro) c.5458T>C (p.Ser1820Pro) c.5215T>C (p.Ser1739Pro) c.5389T>C (p.Ser1797Pro) n.1727T>C n.354T>C c.5368T>C (p.Ser1790Pro) c.5347T>C (p.Ser1783Pro) c.5248T>C (p.Ser1750Pro) c.5284T>C (p.Ser1762Pro) c.5281T>C (p.Ser1761Pro) c.5275T>C (p.Ser1759Pro) c.5308T>C (p.Ser1770Pro) c.5242T>C (p.Ser1748Pro) c.4747T>C (p.Ser1583Pro) c.4891T>C (p.Ser1631Pro) c.1297T>C (p.Ser433Pro) c.4714T>C (p.Ser1572Pro) n.334-1679A>G c.4525T>C (p.Ser1509Pro) c.3970T>C (p.Ser1324Pro) c.2080T>C (p.Ser694Pro) c.5728T>C (p.Ser1910Pro) c.5671T>C (p.Ser1891Pro) c.5587T>C (p.Ser1863Pro) c.5359T>C (p.Ser1787Pro) c.5476T>C (p.Ser1826Pro) c.5467T>C (p.Ser1823Pro) c.5449T>C (p.Ser1817Pro) c.5443T>C (p.Ser1815Pro) c.5416T>C (p.Ser1806Pro) c.5410T>C (p.Ser1804Pro) c.5392T>C (p.Ser1798Pro) c.5386T>C (p.Ser1796Pro) c.5383T>C (p.Ser1795Pro) | |
| 12 | g.2679576T>G | CA383378762 | CACNA1C,CACNA1C-AS1 | c.5299T>G (p.Ser1767Ala) c.5224T>G (p.Ser1742Ala) c.5191T>G (p.Ser1731Ala) c.5266T>G (p.Ser1756Ala) c.5314T>G (p.Ser1772Ala) c.5458T>G (p.Ser1820Ala) c.5215T>G (p.Ser1739Ala) c.5389T>G (p.Ser1797Ala) n.1727T>G n.354T>G c.5368T>G (p.Ser1790Ala) c.5347T>G (p.Ser1783Ala) c.5248T>G (p.Ser1750Ala) c.5284T>G (p.Ser1762Ala) c.5281T>G (p.Ser1761Ala) c.5275T>G (p.Ser1759Ala) c.5308T>G (p.Ser1770Ala) c.5242T>G (p.Ser1748Ala) c.4747T>G (p.Ser1583Ala) c.4891T>G (p.Ser1631Ala) c.1297T>G (p.Ser433Ala) c.4714T>G (p.Ser1572Ala) n.334-1679A>C c.4525T>G (p.Ser1509Ala) c.3970T>G (p.Ser1324Ala) c.2080T>G (p.Ser694Ala) c.5728T>G (p.Ser1910Ala) c.5671T>G (p.Ser1891Ala) c.5587T>G (p.Ser1863Ala) c.5359T>G (p.Ser1787Ala) c.5476T>G (p.Ser1826Ala) c.5467T>G (p.Ser1823Ala) c.5449T>G (p.Ser1817Ala) c.5443T>G (p.Ser1815Ala) c.5416T>G (p.Ser1806Ala) c.5410T>G (p.Ser1804Ala) c.5392T>G (p.Ser1798Ala) c.5386T>G (p.Ser1796Ala) c.5383T>G (p.Ser1795Ala) | |
| 12 | g.2679577C>A | CA383378763 | CACNA1C,CACNA1C-AS1 | c.5300C>A (p.Ser1767Ter) c.5225C>A (p.Ser1742Ter) c.5192C>A (p.Ser1731Ter) c.5267C>A (p.Ser1756Ter) c.5315C>A (p.Ser1772Ter) c.5459C>A (p.Ser1820Ter) c.5216C>A (p.Ser1739Ter) c.5390C>A (p.Ser1797Ter) n.1728C>A n.355C>A c.5369C>A (p.Ser1790Ter) c.5348C>A (p.Ser1783Ter) c.5249C>A (p.Ser1750Ter) c.5285C>A (p.Ser1762Ter) c.5282C>A (p.Ser1761Ter) c.5276C>A (p.Ser1759Ter) c.5309C>A (p.Ser1770Ter) c.5243C>A (p.Ser1748Ter) c.4748C>A (p.Ser1583Ter) c.4892C>A (p.Ser1631Ter) c.1298C>A (p.Ser433Ter) c.4715C>A (p.Ser1572Ter) n.334-1680G>T c.4526C>A (p.Ser1509Ter) c.3971C>A (p.Ser1324Ter) c.2081C>A (p.Ser694Ter) c.5729C>A (p.Ser1910Ter) c.5672C>A (p.Ser1891Ter) c.5588C>A (p.Ser1863Ter) c.5360C>A (p.Ser1787Ter) c.5477C>A (p.Ser1826Ter) c.5468C>A (p.Ser1823Ter) c.5450C>A (p.Ser1817Ter) c.5444C>A (p.Ser1815Ter) c.5417C>A (p.Ser1806Ter) c.5411C>A (p.Ser1804Ter) c.5393C>A (p.Ser1798Ter) c.5387C>A (p.Ser1796Ter) c.5384C>A (p.Ser1795Ter) | dbSNP |
| 12 | g.2679577C= | CA2012347632 | CACNA1C,CACNA1C-AS1 | c.5300C= (p.Ser1767=) c.5225C= (p.Ser1742=) c.5192C= (p.Ser1731=) c.5267C= (p.Ser1756=) c.5315C= (p.Ser1772=) c.5459C= (p.Ser1820=) c.5216C= (p.Ser1739=) c.5390C= (p.Ser1797=) n.1728C= n.355C= c.5369C= (p.Ser1790=) c.5348C= (p.Ser1783=) c.5249C= (p.Ser1750=) c.5285C= (p.Ser1762=) c.5282C= (p.Ser1761=) c.5276C= (p.Ser1759=) c.5309C= (p.Ser1770=) c.5243C= (p.Ser1748=) c.4748C= (p.Ser1583=) c.4892C= (p.Ser1631=) c.1298C= (p.Ser433=) c.4715C= (p.Ser1572=) n.334-1680G= c.4526C= (p.Ser1509=) c.3971C= (p.Ser1324=) c.2081C= (p.Ser694=) c.5729C= (p.Ser1910=) c.5672C= (p.Ser1891=) c.5588C= (p.Ser1863=) c.5360C= (p.Ser1787=) c.5477C= (p.Ser1826=) c.5468C= (p.Ser1823=) c.5450C= (p.Ser1817=) c.5444C= (p.Ser1815=) c.5417C= (p.Ser1806=) c.5411C= (p.Ser1804=) c.5393C= (p.Ser1798=) c.5387C= (p.Ser1796=) c.5384C= (p.Ser1795=) | |
| 12 | g.2679577C>G | CA383378764 | CACNA1C,CACNA1C-AS1 | c.5300C>G (p.Ser1767Trp) c.5225C>G (p.Ser1742Trp) c.5192C>G (p.Ser1731Trp) c.5267C>G (p.Ser1756Trp) c.5315C>G (p.Ser1772Trp) c.5459C>G (p.Ser1820Trp) c.5216C>G (p.Ser1739Trp) c.5390C>G (p.Ser1797Trp) n.1728C>G n.355C>G c.5369C>G (p.Ser1790Trp) c.5348C>G (p.Ser1783Trp) c.5249C>G (p.Ser1750Trp) c.5285C>G (p.Ser1762Trp) c.5282C>G (p.Ser1761Trp) c.5276C>G (p.Ser1759Trp) c.5309C>G (p.Ser1770Trp) c.5243C>G (p.Ser1748Trp) c.4748C>G (p.Ser1583Trp) c.4892C>G (p.Ser1631Trp) c.1298C>G (p.Ser433Trp) c.4715C>G (p.Ser1572Trp) n.334-1680G>C c.4526C>G (p.Ser1509Trp) c.3971C>G (p.Ser1324Trp) c.2081C>G (p.Ser694Trp) c.5729C>G (p.Ser1910Trp) c.5672C>G (p.Ser1891Trp) c.5588C>G (p.Ser1863Trp) c.5360C>G (p.Ser1787Trp) c.5477C>G (p.Ser1826Trp) c.5468C>G (p.Ser1823Trp) c.5450C>G (p.Ser1817Trp) c.5444C>G (p.Ser1815Trp) c.5417C>G (p.Ser1806Trp) c.5411C>G (p.Ser1804Trp) c.5393C>G (p.Ser1798Trp) c.5387C>G (p.Ser1796Trp) c.5384C>G (p.Ser1795Trp) | |
| 12 | g.2679577C>T | CA6389734 | CACNA1C,CACNA1C-AS1 | c.5300C>T (p.Ser1767Leu) c.5225C>T (p.Ser1742Leu) c.5192C>T (p.Ser1731Leu) c.5267C>T (p.Ser1756Leu) c.5315C>T (p.Ser1772Leu) c.5459C>T (p.Ser1820Leu) c.5216C>T (p.Ser1739Leu) c.5390C>T (p.Ser1797Leu) n.1728C>T n.355C>T c.5369C>T (p.Ser1790Leu) c.5348C>T (p.Ser1783Leu) c.5249C>T (p.Ser1750Leu) c.5285C>T (p.Ser1762Leu) c.5282C>T (p.Ser1761Leu) c.5276C>T (p.Ser1759Leu) c.5309C>T (p.Ser1770Leu) c.5243C>T (p.Ser1748Leu) c.4748C>T (p.Ser1583Leu) c.4892C>T (p.Ser1631Leu) c.1298C>T (p.Ser433Leu) c.4715C>T (p.Ser1572Leu) n.334-1680G>A c.4526C>T (p.Ser1509Leu) c.3971C>T (p.Ser1324Leu) c.2081C>T (p.Ser694Leu) c.5729C>T (p.Ser1910Leu) c.5672C>T (p.Ser1891Leu) c.5588C>T (p.Ser1863Leu) c.5360C>T (p.Ser1787Leu) c.5477C>T (p.Ser1826Leu) c.5468C>T (p.Ser1823Leu) c.5450C>T (p.Ser1817Leu) c.5444C>T (p.Ser1815Leu) c.5417C>T (p.Ser1806Leu) c.5411C>T (p.Ser1804Leu) c.5393C>T (p.Ser1798Leu) c.5387C>T (p.Ser1796Leu) c.5384C>T (p.Ser1795Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.2679578G>A | CA6389735 | CACNA1C,CACNA1C-AS1 | c.5301G>A (p.Ser1767=) c.5226G>A (p.Ser1742=) c.5193G>A (p.Ser1731=) c.5268G>A (p.Ser1756=) c.5316G>A (p.Ser1772=) c.5460G>A (p.Ser1820=) c.5217G>A (p.Ser1739=) c.5391G>A (p.Ser1797=) n.1729G>A n.356G>A c.5370G>A (p.Ser1790=) c.5349G>A (p.Ser1783=) c.5250G>A (p.Ser1750=) c.5286G>A (p.Ser1762=) c.5283G>A (p.Ser1761=) c.5277G>A (p.Ser1759=) c.5310G>A (p.Ser1770=) c.5244G>A (p.Ser1748=) c.4749G>A (p.Ser1583=) c.4893G>A (p.Ser1631=) c.1299G>A (p.Ser433=) c.4716G>A (p.Ser1572=) n.334-1681C>T c.4527G>A (p.Ser1509=) c.3972G>A (p.Ser1324=) c.2082G>A (p.Ser694=) c.5730G>A (p.Ser1910=) c.5673G>A (p.Ser1891=) c.5589G>A (p.Ser1863=) c.5361G>A (p.Ser1787=) c.5478G>A (p.Ser1826=) c.5469G>A (p.Ser1823=) c.5451G>A (p.Ser1817=) c.5445G>A (p.Ser1815=) c.5418G>A (p.Ser1806=) c.5412G>A (p.Ser1804=) c.5394G>A (p.Ser1798=) c.5388G>A (p.Ser1796=) c.5385G>A (p.Ser1795=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.2679578G>C | CA478087796 | CACNA1C,CACNA1C-AS1 | c.5301G>C (p.Ser1767=) c.5226G>C (p.Ser1742=) c.5193G>C (p.Ser1731=) c.5268G>C (p.Ser1756=) c.5316G>C (p.Ser1772=) c.5460G>C (p.Ser1820=) c.5217G>C (p.Ser1739=) c.5391G>C (p.Ser1797=) n.1729G>C n.356G>C c.5370G>C (p.Ser1790=) c.5349G>C (p.Ser1783=) c.5250G>C (p.Ser1750=) c.5286G>C (p.Ser1762=) c.5283G>C (p.Ser1761=) c.5277G>C (p.Ser1759=) c.5310G>C (p.Ser1770=) c.5244G>C (p.Ser1748=) c.4749G>C (p.Ser1583=) c.4893G>C (p.Ser1631=) c.1299G>C (p.Ser433=) c.4716G>C (p.Ser1572=) n.334-1681C>G c.4527G>C (p.Ser1509=) c.3972G>C (p.Ser1324=) c.2082G>C (p.Ser694=) c.5730G>C (p.Ser1910=) c.5673G>C (p.Ser1891=) c.5589G>C (p.Ser1863=) c.5361G>C (p.Ser1787=) c.5478G>C (p.Ser1826=) c.5469G>C (p.Ser1823=) c.5451G>C (p.Ser1817=) c.5445G>C (p.Ser1815=) c.5418G>C (p.Ser1806=) c.5412G>C (p.Ser1804=) c.5394G>C (p.Ser1798=) c.5388G>C (p.Ser1796=) c.5385G>C (p.Ser1795=) | |
| 12 | g.2679578G= | CA2012347633 | CACNA1C,CACNA1C-AS1 | c.5301G= (p.Ser1767=) c.5226G= (p.Ser1742=) c.5193G= (p.Ser1731=) c.5268G= (p.Ser1756=) c.5316G= (p.Ser1772=) c.5460G= (p.Ser1820=) c.5217G= (p.Ser1739=) c.5391G= (p.Ser1797=) n.1729G= n.356G= c.5370G= (p.Ser1790=) c.5349G= (p.Ser1783=) c.5250G= (p.Ser1750=) c.5286G= (p.Ser1762=) c.5283G= (p.Ser1761=) c.5277G= (p.Ser1759=) c.5310G= (p.Ser1770=) c.5244G= (p.Ser1748=) c.4749G= (p.Ser1583=) c.4893G= (p.Ser1631=) c.1299G= (p.Ser433=) c.4716G= (p.Ser1572=) n.334-1681C= c.4527G= (p.Ser1509=) c.3972G= (p.Ser1324=) c.2082G= (p.Ser694=) c.5730G= (p.Ser1910=) c.5673G= (p.Ser1891=) c.5589G= (p.Ser1863=) c.5361G= (p.Ser1787=) c.5478G= (p.Ser1826=) c.5469G= (p.Ser1823=) c.5451G= (p.Ser1817=) c.5445G= (p.Ser1815=) c.5418G= (p.Ser1806=) c.5412G= (p.Ser1804=) c.5394G= (p.Ser1798=) c.5388G= (p.Ser1796=) c.5385G= (p.Ser1795=) | |
| 12 | g.2679578G>T | CA478087797 | CACNA1C,CACNA1C-AS1 | c.5301G>T (p.Ser1767=) c.5226G>T (p.Ser1742=) c.5193G>T (p.Ser1731=) c.5268G>T (p.Ser1756=) c.5316G>T (p.Ser1772=) c.5460G>T (p.Ser1820=) c.5217G>T (p.Ser1739=) c.5391G>T (p.Ser1797=) n.1729G>T n.356G>T c.5370G>T (p.Ser1790=) c.5349G>T (p.Ser1783=) c.5250G>T (p.Ser1750=) c.5286G>T (p.Ser1762=) c.5283G>T (p.Ser1761=) c.5277G>T (p.Ser1759=) c.5310G>T (p.Ser1770=) c.5244G>T (p.Ser1748=) c.4749G>T (p.Ser1583=) c.4893G>T (p.Ser1631=) c.1299G>T (p.Ser433=) c.4716G>T (p.Ser1572=) n.334-1681C>A c.4527G>T (p.Ser1509=) c.3972G>T (p.Ser1324=) c.2082G>T (p.Ser694=) c.5730G>T (p.Ser1910=) c.5673G>T (p.Ser1891=) c.5589G>T (p.Ser1863=) c.5361G>T (p.Ser1787=) c.5478G>T (p.Ser1826=) c.5469G>T (p.Ser1823=) c.5451G>T (p.Ser1817=) c.5445G>T (p.Ser1815=) c.5418G>T (p.Ser1806=) c.5412G>T (p.Ser1804=) c.5394G>T (p.Ser1798=) c.5388G>T (p.Ser1796=) c.5385G>T (p.Ser1795=) | |
| 12 | g.2679579C>A | CA383378765 | CACNA1C,CACNA1C-AS1 | c.5302C>A (p.Pro1768Thr) c.5227C>A (p.Pro1743Thr) c.5194C>A (p.Pro1732Thr) c.5269C>A (p.Pro1757Thr) c.5317C>A (p.Pro1773Thr) c.5461C>A (p.Pro1821Thr) c.5218C>A (p.Pro1740Thr) c.5392C>A (p.Pro1798Thr) n.1730C>A n.357C>A c.5371C>A (p.Pro1791Thr) c.5350C>A (p.Pro1784Thr) c.5251C>A (p.Pro1751Thr) c.5287C>A (p.Pro1763Thr) c.5284C>A (p.Pro1762Thr) c.5278C>A (p.Pro1760Thr) c.5311C>A (p.Pro1771Thr) c.5245C>A (p.Pro1749Thr) c.4750C>A (p.Pro1584Thr) c.4894C>A (p.Pro1632Thr) c.1300C>A (p.Pro434Thr) c.4717C>A (p.Pro1573Thr) n.334-1682G>T c.4528C>A (p.Pro1510Thr) c.3973C>A (p.Pro1325Thr) c.2083C>A (p.Pro695Thr) c.5731C>A (p.Pro1911Thr) c.5674C>A (p.Pro1892Thr) c.5590C>A (p.Pro1864Thr) c.5362C>A (p.Pro1788Thr) c.5479C>A (p.Pro1827Thr) c.5470C>A (p.Pro1824Thr) c.5452C>A (p.Pro1818Thr) c.5446C>A (p.Pro1816Thr) c.5419C>A (p.Pro1807Thr) c.5413C>A (p.Pro1805Thr) c.5395C>A (p.Pro1799Thr) c.5389C>A (p.Pro1797Thr) c.5386C>A (p.Pro1796Thr) | |
| 12 | g.2679579C>G | CA383378766 | CACNA1C,CACNA1C-AS1 | c.5302C>G (p.Pro1768Ala) c.5227C>G (p.Pro1743Ala) c.5194C>G (p.Pro1732Ala) c.5269C>G (p.Pro1757Ala) c.5317C>G (p.Pro1773Ala) c.5461C>G (p.Pro1821Ala) c.5218C>G (p.Pro1740Ala) c.5392C>G (p.Pro1798Ala) n.1730C>G n.357C>G c.5371C>G (p.Pro1791Ala) c.5350C>G (p.Pro1784Ala) c.5251C>G (p.Pro1751Ala) c.5287C>G (p.Pro1763Ala) c.5284C>G (p.Pro1762Ala) c.5278C>G (p.Pro1760Ala) c.5311C>G (p.Pro1771Ala) c.5245C>G (p.Pro1749Ala) c.4750C>G (p.Pro1584Ala) c.4894C>G (p.Pro1632Ala) c.1300C>G (p.Pro434Ala) c.4717C>G (p.Pro1573Ala) n.334-1682G>C c.4528C>G (p.Pro1510Ala) c.3973C>G (p.Pro1325Ala) c.2083C>G (p.Pro695Ala) c.5731C>G (p.Pro1911Ala) c.5674C>G (p.Pro1892Ala) c.5590C>G (p.Pro1864Ala) c.5362C>G (p.Pro1788Ala) c.5479C>G (p.Pro1827Ala) c.5470C>G (p.Pro1824Ala) c.5452C>G (p.Pro1818Ala) c.5446C>G (p.Pro1816Ala) c.5419C>G (p.Pro1807Ala) c.5413C>G (p.Pro1805Ala) c.5395C>G (p.Pro1799Ala) c.5389C>G (p.Pro1797Ala) c.5386C>G (p.Pro1796Ala) |