| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.38551108T>A | CA352141731 | SCN5A | c.5261A>T (p.Tyr1754Phe) c.5264A>T (p.Tyr1755Phe) c.5210A>T (p.Tyr1737Phe) c.5102A>T (p.Tyr1701Phe) c.5165A>T (p.Tyr1722Phe) c.5135A>T (p.Tyr1712Phe) c.5207A>T (p.Tyr1736Phe) | |
| 3 | g.38551108T>C | CA352141730 | SCN5A | c.5261A>G (p.Tyr1754Cys) c.5264A>G (p.Tyr1755Cys) c.5210A>G (p.Tyr1737Cys) c.5102A>G (p.Tyr1701Cys) c.5165A>G (p.Tyr1722Cys) c.5135A>G (p.Tyr1712Cys) c.5207A>G (p.Tyr1736Cys) | |
| 3 | g.38551108T>G | CA352141728 | SCN5A | c.5261A>C (p.Tyr1754Ser) c.5264A>C (p.Tyr1755Ser) c.5210A>C (p.Tyr1737Ser) c.5102A>C (p.Tyr1701Ser) c.5165A>C (p.Tyr1722Ser) c.5135A>C (p.Tyr1712Ser) c.5207A>C (p.Tyr1736Ser) | |
| 3 | g.38551108dup | CA2586965806 | SCN5A | c.5261dup (p.Tyr1754Ter) c.5264dup (p.Tyr1755Ter) c.5210dup (p.Tyr1737Ter) c.5102dup (p.Tyr1701Ter) c.5165dup (p.Tyr1722Ter) c.5135dup (p.Tyr1712Ter) c.5207dup (p.Tyr1736Ter) | |
| 3 | g.38551109A>C | CA352141732 | SCN5A | c.5260T>G (p.Tyr1754Asp) c.5263T>G (p.Tyr1755Asp) c.5209T>G (p.Tyr1737Asp) c.5101T>G (p.Tyr1701Asp) c.5164T>G (p.Tyr1722Asp) c.5134T>G (p.Tyr1712Asp) c.5206T>G (p.Tyr1736Asp) | |
| 3 | g.38551109A>G | CA352141733 | SCN5A | c.5260T>C (p.Tyr1754His) c.5263T>C (p.Tyr1755His) c.5209T>C (p.Tyr1737His) c.5101T>C (p.Tyr1701His) c.5164T>C (p.Tyr1722His) c.5134T>C (p.Tyr1712His) c.5206T>C (p.Tyr1736His) | COSMIC COSMIC COSMIC |
| 3 | g.38551109A>T | CA352141735 | SCN5A | c.5260T>A (p.Tyr1754Asn) c.5263T>A (p.Tyr1755Asn) c.5209T>A (p.Tyr1737Asn) c.5101T>A (p.Tyr1701Asn) c.5164T>A (p.Tyr1722Asn) c.5134T>A (p.Tyr1712Asn) c.5206T>A (p.Tyr1736Asn) | |
| 3 | g.38551110G>A | CA433332169 | SCN5A | c.5259C>T (p.Thr1753=) c.5262C>T (p.Thr1754=) c.5208C>T (p.Thr1736=) c.5100C>T (p.Thr1700=) c.5163C>T (p.Thr1721=) c.5133C>T (p.Thr1711=) c.5205C>T (p.Thr1735=) | ClinVar dbSNP |
| 3 | g.38551110G>C | CA433332166 | SCN5A | c.5259C>G (p.Thr1753=) c.5262C>G (p.Thr1754=) c.5208C>G (p.Thr1736=) c.5100C>G (p.Thr1700=) c.5163C>G (p.Thr1721=) c.5133C>G (p.Thr1711=) c.5205C>G (p.Thr1735=) | gnomAD v4 |
| 3 | g.38551110G>T | CA433332164 | SCN5A | c.5259C>A (p.Thr1753=) c.5262C>A (p.Thr1754=) c.5208C>A (p.Thr1736=) c.5100C>A (p.Thr1700=) c.5163C>A (p.Thr1721=) c.5133C>A (p.Thr1711=) c.5205C>A (p.Thr1735=) | |
| 3 | g.38551111G>A | CA352141738 | SCN5A | c.5258C>T (p.Thr1753Ile) c.5261C>T (p.Thr1754Ile) c.5207C>T (p.Thr1736Ile) c.5099C>T (p.Thr1700Ile) c.5162C>T (p.Thr1721Ile) c.5132C>T (p.Thr1711Ile) c.5204C>T (p.Thr1735Ile) | ClinVar dbSNP |
| 3 | g.38551111G>C | CA352141739 | SCN5A | c.5258C>G (p.Thr1753Ser) c.5261C>G (p.Thr1754Ser) c.5207C>G (p.Thr1736Ser) c.5099C>G (p.Thr1700Ser) c.5162C>G (p.Thr1721Ser) c.5132C>G (p.Thr1711Ser) c.5204C>G (p.Thr1735Ser) | |
| 3 | g.38551111G>T | CA352141741 | SCN5A | c.5258C>A (p.Thr1753Asn) c.5261C>A (p.Thr1754Asn) c.5207C>A (p.Thr1736Asn) c.5099C>A (p.Thr1700Asn) c.5162C>A (p.Thr1721Asn) c.5132C>A (p.Thr1711Asn) c.5204C>A (p.Thr1735Asn) | |
| 3 | g.38551112T>A | CA10582187 | SCN5A | c.5257A>T (p.Thr1753Ser) c.5260A>T (p.Thr1754Ser) c.5206A>T (p.Thr1736Ser) c.5098A>T (p.Thr1700Ser) c.5161A>T (p.Thr1721Ser) c.5131A>T (p.Thr1711Ser) c.5203A>T (p.Thr1735Ser) | ClinVar dbSNP |
| 3 | g.38551112T>C | CA352141745 | SCN5A | c.5257A>G (p.Thr1753Ala) c.5260A>G (p.Thr1754Ala) c.5206A>G (p.Thr1736Ala) c.5098A>G (p.Thr1700Ala) c.5161A>G (p.Thr1721Ala) c.5131A>G (p.Thr1711Ala) c.5203A>G (p.Thr1735Ala) | |
| 3 | g.38551112T>G | CA352141744 | SCN5A | c.5257A>C (p.Thr1753Pro) c.5260A>C (p.Thr1754Pro) c.5206A>C (p.Thr1736Pro) c.5098A>C (p.Thr1700Pro) c.5161A>C (p.Thr1721Pro) c.5131A>C (p.Thr1711Pro) c.5203A>C (p.Thr1735Pro) | |
| 3 | g.38551112T= | CA1358557356 | SCN5A | c.5257A= (p.Thr1753=) c.5260A= (p.Thr1754=) c.5206A= (p.Thr1736=) c.5098A= (p.Thr1700=) c.5161A= (p.Thr1721=) c.5131A= (p.Thr1711=) c.5203A= (p.Thr1735=) | |
| 3 | g.38551113G>A | CA433332177 | SCN5A | c.5256C>T (p.Thr1752=) c.5259C>T (p.Thr1753=) c.5205C>T (p.Thr1735=) c.5097C>T (p.Thr1699=) c.5160C>T (p.Thr1720=) c.5130C>T (p.Thr1710=) c.5202C>T (p.Thr1734=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38551113G>C | CA433332176 | SCN5A | c.5256C>G (p.Thr1752=) c.5259C>G (p.Thr1753=) c.5205C>G (p.Thr1735=) c.5097C>G (p.Thr1699=) c.5160C>G (p.Thr1720=) c.5130C>G (p.Thr1710=) c.5202C>G (p.Thr1734=) | gnomAD v4 |
| 3 | g.38551113G= | CA1358557360 | SCN5A | c.5256C= (p.Thr1752=) c.5259C= (p.Thr1753=) c.5205C= (p.Thr1735=) c.5097C= (p.Thr1699=) c.5160C= (p.Thr1720=) c.5130C= (p.Thr1710=) c.5202C= (p.Thr1734=) | |
| 3 | g.38551113G>T | CA433332175 | SCN5A | c.5256C>A (p.Thr1752=) c.5259C>A (p.Thr1753=) c.5205C>A (p.Thr1735=) c.5097C>A (p.Thr1699=) c.5160C>A (p.Thr1720=) c.5130C>A (p.Thr1710=) c.5202C>A (p.Thr1734=) | |
| 3 | g.38551114G>A | CA352141746 | SCN5A | c.5255C>T (p.Thr1752Ile) c.5258C>T (p.Thr1753Ile) c.5204C>T (p.Thr1735Ile) c.5096C>T (p.Thr1699Ile) c.5159C>T (p.Thr1720Ile) c.5129C>T (p.Thr1710Ile) c.5201C>T (p.Thr1734Ile) | |
| 3 | g.38551114G>C | CA352141748 | SCN5A | c.5255C>G (p.Thr1752Ser) c.5258C>G (p.Thr1753Ser) c.5204C>G (p.Thr1735Ser) c.5096C>G (p.Thr1699Ser) c.5159C>G (p.Thr1720Ser) c.5129C>G (p.Thr1710Ser) c.5201C>G (p.Thr1734Ser) | |
| 3 | g.38551114G>T | CA352141749 | SCN5A | c.5255C>A (p.Thr1752Asn) c.5258C>A (p.Thr1753Asn) c.5204C>A (p.Thr1735Asn) c.5096C>A (p.Thr1699Asn) c.5159C>A (p.Thr1720Asn) c.5129C>A (p.Thr1710Asn) c.5201C>A (p.Thr1734Asn) | |
| 3 | g.38551115T>A | CA352141751 | SCN5A | c.5254A>T (p.Thr1752Ser) c.5257A>T (p.Thr1753Ser) c.5203A>T (p.Thr1735Ser) c.5095A>T (p.Thr1699Ser) c.5158A>T (p.Thr1720Ser) c.5128A>T (p.Thr1710Ser) c.5200A>T (p.Thr1734Ser) | |
| 3 | g.38551115T>C | CA352141753 | SCN5A | c.5254A>G (p.Thr1752Ala) c.5257A>G (p.Thr1753Ala) c.5203A>G (p.Thr1735Ala) c.5095A>G (p.Thr1699Ala) c.5158A>G (p.Thr1720Ala) c.5128A>G (p.Thr1710Ala) c.5200A>G (p.Thr1734Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38551115T>G | CA352141755 | SCN5A | c.5254A>C (p.Thr1752Pro) c.5257A>C (p.Thr1753Pro) c.5203A>C (p.Thr1735Pro) c.5095A>C (p.Thr1699Pro) c.5158A>C (p.Thr1720Pro) c.5128A>C (p.Thr1710Pro) c.5200A>C (p.Thr1734Pro) | |
| 3 | g.38551115T= | CA1358557362 | SCN5A | c.5254A= (p.Thr1752=) c.5257A= (p.Thr1753=) c.5203A= (p.Thr1735=) c.5095A= (p.Thr1699=) c.5158A= (p.Thr1720=) c.5128A= (p.Thr1710=) c.5200A= (p.Thr1734=) | |
| 3 | g.38551116G>A | CA72938013 | SCN5A | c.5253C>T (p.Phe1751=) c.5256C>T (p.Phe1752=) c.5202C>T (p.Phe1734=) c.5094C>T (p.Phe1698=) c.5157C>T (p.Phe1719=) c.5127C>T (p.Phe1709=) c.5199C>T (p.Phe1733=) | dbSNP gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.38551116G>C | CA352141757 | SCN5A | c.5253C>G (p.Phe1751Leu) c.5256C>G (p.Phe1752Leu) c.5202C>G (p.Phe1734Leu) c.5094C>G (p.Phe1698Leu) c.5157C>G (p.Phe1719Leu) c.5127C>G (p.Phe1709Leu) c.5199C>G (p.Phe1733Leu) | |
| 3 | g.38551116G= | CA1358557369 | SCN5A | c.5253C= (p.Phe1751=) c.5256C= (p.Phe1752=) c.5202C= (p.Phe1734=) c.5094C= (p.Phe1698=) c.5157C= (p.Phe1719=) c.5127C= (p.Phe1709=) c.5199C= (p.Phe1733=) | |
| 3 | g.38551116G>T | CA352141758 | SCN5A | c.5253C>A (p.Phe1751Leu) c.5256C>A (p.Phe1752Leu) c.5202C>A (p.Phe1734Leu) c.5094C>A (p.Phe1698Leu) c.5157C>A (p.Phe1719Leu) c.5127C>A (p.Phe1709Leu) c.5199C>A (p.Phe1733Leu) | |
| 3 | g.38551121_38551123del | CA2580614204 | SCN5A | c.5251_5253del (p.Phe1751del) c.5254_5256del (p.Phe1752del) c.5200_5202del (p.Phe1734del) c.5092_5094del (p.Phe1698del) c.5155_5157del (p.Phe1719del) c.5125_5127del (p.Phe1709del) c.5197_5199del (p.Phe1733del) | dbSNP gnomAD v4 |
| 3 | g.38551117A>C | CA352141761 | SCN5A | c.5252T>G (p.Phe1751Cys) c.5255T>G (p.Phe1752Cys) c.5201T>G (p.Phe1734Cys) c.5093T>G (p.Phe1698Cys) c.5156T>G (p.Phe1719Cys) c.5126T>G (p.Phe1709Cys) c.5198T>G (p.Phe1733Cys) | |
| 3 | g.38551117A>G | CA352141763 | SCN5A | c.5252T>C (p.Phe1751Ser) c.5255T>C (p.Phe1752Ser) c.5201T>C (p.Phe1734Ser) c.5093T>C (p.Phe1698Ser) c.5156T>C (p.Phe1719Ser) c.5126T>C (p.Phe1709Ser) c.5198T>C (p.Phe1733Ser) | |
| 3 | g.38551117A>T | CA352141765 | SCN5A | c.5252T>A (p.Phe1751Tyr) c.5255T>A (p.Phe1752Tyr) c.5201T>A (p.Phe1734Tyr) c.5093T>A (p.Phe1698Tyr) c.5156T>A (p.Phe1719Tyr) c.5126T>A (p.Phe1709Tyr) c.5198T>A (p.Phe1733Tyr) | |
| 3 | g.38551118A>C | CA352141767 | SCN5A | c.5251T>G (p.Phe1751Val) c.5254T>G (p.Phe1752Val) c.5200T>G (p.Phe1734Val) c.5092T>G (p.Phe1698Val) c.5155T>G (p.Phe1719Val) c.5125T>G (p.Phe1709Val) c.5197T>G (p.Phe1733Val) | |
| 3 | g.38551118A>G | CA352141768 | SCN5A | c.5251T>C (p.Phe1751Leu) c.5254T>C (p.Phe1752Leu) c.5200T>C (p.Phe1734Leu) c.5092T>C (p.Phe1698Leu) c.5155T>C (p.Phe1719Leu) c.5125T>C (p.Phe1709Leu) c.5197T>C (p.Phe1733Leu) | |
| 3 | g.38551118A>T | CA352141770 | SCN5A | c.5251T>A (p.Phe1751Ile) c.5254T>A (p.Phe1752Ile) c.5200T>A (p.Phe1734Ile) c.5092T>A (p.Phe1698Ile) c.5155T>A (p.Phe1719Ile) c.5125T>A (p.Phe1709Ile) c.5197T>A (p.Phe1733Ile) | |
| 3 | g.38551119G>A | CA433332193 | SCN5A | c.5250C>T (p.Phe1750=) c.5253C>T (p.Phe1751=) c.5199C>T (p.Phe1733=) c.5091C>T (p.Phe1697=) c.5154C>T (p.Phe1718=) c.5124C>T (p.Phe1708=) c.5196C>T (p.Phe1732=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38551119G>C | CA352141773 | SCN5A | c.5250C>G (p.Phe1750Leu) c.5253C>G (p.Phe1751Leu) c.5199C>G (p.Phe1733Leu) c.5091C>G (p.Phe1697Leu) c.5154C>G (p.Phe1718Leu) c.5124C>G (p.Phe1708Leu) c.5196C>G (p.Phe1732Leu) | |
| 3 | g.38551119G= | CA1358557374 | SCN5A | c.5250C= (p.Phe1750=) c.5253C= (p.Phe1751=) c.5199C= (p.Phe1733=) c.5091C= (p.Phe1697=) c.5154C= (p.Phe1718=) c.5124C= (p.Phe1708=) c.5196C= (p.Phe1732=) | |
| 3 | g.38551119G>T | CA352141771 | SCN5A | c.5250C>A (p.Phe1750Leu) c.5253C>A (p.Phe1751Leu) c.5199C>A (p.Phe1733Leu) c.5091C>A (p.Phe1697Leu) c.5154C>A (p.Phe1718Leu) c.5124C>A (p.Phe1708Leu) c.5196C>A (p.Phe1732Leu) | |
| 3 | g.38551120A>C | CA352141774 | SCN5A | c.5249T>G (p.Phe1750Cys) c.5252T>G (p.Phe1751Cys) c.5198T>G (p.Phe1733Cys) c.5090T>G (p.Phe1697Cys) c.5153T>G (p.Phe1718Cys) c.5123T>G (p.Phe1708Cys) c.5195T>G (p.Phe1732Cys) | |
| 3 | g.38551120A>G | CA352141775 | SCN5A | c.5249T>C (p.Phe1750Ser) c.5252T>C (p.Phe1751Ser) c.5198T>C (p.Phe1733Ser) c.5090T>C (p.Phe1697Ser) c.5153T>C (p.Phe1718Ser) c.5123T>C (p.Phe1708Ser) c.5195T>C (p.Phe1732Ser) | |
| 3 | g.38551120A>T | CA352141777 | SCN5A | c.5249T>A (p.Phe1750Tyr) c.5252T>A (p.Phe1751Tyr) c.5198T>A (p.Phe1733Tyr) c.5090T>A (p.Phe1697Tyr) c.5153T>A (p.Phe1718Tyr) c.5123T>A (p.Phe1708Tyr) c.5195T>A (p.Phe1732Tyr) | |
| 3 | g.38551121A>C | CA352141779 | SCN5A | c.5248T>G (p.Phe1750Val) c.5251T>G (p.Phe1751Val) c.5197T>G (p.Phe1733Val) c.5089T>G (p.Phe1697Val) c.5152T>G (p.Phe1718Val) c.5122T>G (p.Phe1708Val) c.5194T>G (p.Phe1732Val) | |
| 3 | g.38551121A>G | CA352141781 | SCN5A | c.5248T>C (p.Phe1750Leu) c.5251T>C (p.Phe1751Leu) c.5197T>C (p.Phe1733Leu) c.5089T>C (p.Phe1697Leu) c.5152T>C (p.Phe1718Leu) c.5122T>C (p.Phe1708Leu) c.5194T>C (p.Phe1732Leu) | |
| 3 | g.38551121A>T | CA352141783 | SCN5A | c.5248T>A (p.Phe1750Ile) c.5251T>A (p.Phe1751Ile) c.5197T>A (p.Phe1733Ile) c.5089T>A (p.Phe1697Ile) c.5152T>A (p.Phe1718Ile) c.5122T>A (p.Phe1708Ile) c.5194T>A (p.Phe1732Ile) | |
| 3 | g.38551122G>A | CA433332202 | SCN5A | c.5247C>T (p.Leu1749=) c.5250C>T (p.Leu1750=) c.5196C>T (p.Leu1732=) c.5088C>T (p.Leu1696=) c.5151C>T (p.Leu1717=) c.5121C>T (p.Leu1707=) c.5193C>T (p.Leu1731=) |