| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.38550656T>A | CA352140219 | SCN5A | c.5713A>T (p.Met1905Leu) c.5716A>T (p.Met1906Leu) c.5662A>T (p.Met1888Leu) c.5554A>T (p.Met1852Leu) c.5617A>T (p.Met1873Leu) c.5587A>T (p.Met1863Leu) c.5659A>T (p.Met1887Leu) | |
| 3 | g.38550656T>C | CA72937834 | SCN5A | c.5713A>G (p.Met1905Val) c.5716A>G (p.Met1906Val) c.5662A>G (p.Met1888Val) c.5554A>G (p.Met1852Val) c.5617A>G (p.Met1873Val) c.5587A>G (p.Met1863Val) c.5659A>G (p.Met1887Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38550656T>G | CA352140221 | SCN5A | c.5713A>C (p.Met1905Leu) c.5716A>C (p.Met1906Leu) c.5662A>C (p.Met1888Leu) c.5554A>C (p.Met1852Leu) c.5617A>C (p.Met1873Leu) c.5587A>C (p.Met1863Leu) c.5659A>C (p.Met1887Leu) | |
| 3 | g.38550656T= | CA1358556327 | SCN5A | c.5713A= (p.Met1905=) c.5716A= (p.Met1906=) c.5662A= (p.Met1888=) c.5554A= (p.Met1852=) c.5617A= (p.Met1873=) c.5587A= (p.Met1863=) c.5659A= (p.Met1887=) | |
| 3 | g.38550657G>A | CA433332011 | SCN5A | c.5712C>T (p.Ala1904=) c.5715C>T (p.Ala1905=) c.5661C>T (p.Ala1887=) c.5553C>T (p.Ala1851=) c.5616C>T (p.Ala1872=) c.5586C>T (p.Ala1862=) c.5658C>T (p.Ala1886=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38550657G>C | CA433332012 | SCN5A | c.5712C>G (p.Ala1904=) c.5715C>G (p.Ala1905=) c.5661C>G (p.Ala1887=) c.5553C>G (p.Ala1851=) c.5616C>G (p.Ala1872=) c.5586C>G (p.Ala1862=) c.5658C>G (p.Ala1886=) | |
| 3 | g.38550657G= | CA1358556333 | SCN5A | c.5712C= (p.Ala1904=) c.5715C= (p.Ala1905=) c.5661C= (p.Ala1887=) c.5553C= (p.Ala1851=) c.5616C= (p.Ala1872=) c.5586C= (p.Ala1862=) c.5658C= (p.Ala1886=) | |
| 3 | g.38550657G>T | CA433332014 | SCN5A | c.5712C>A (p.Ala1904=) c.5715C>A (p.Ala1905=) c.5661C>A (p.Ala1887=) c.5553C>A (p.Ala1851=) c.5616C>A (p.Ala1872=) c.5586C>A (p.Ala1862=) c.5658C>A (p.Ala1886=) | |
| 3 | g.38550658del | CA2544301482 | SCN5A | c.5712del (p.Met1905TrpfsTer16) c.5715del (p.Met1906TrpfsTer16) c.5661del (p.Met1888TrpfsTer16) c.5553del (p.Met1852TrpfsTer16) c.5616del (p.Met1873TrpfsTer16) c.5586del (p.Met1863TrpfsTer16) c.5658del (p.Met1887TrpfsTer16) | |
| 3 | g.38550658G>A | CA352140223 | SCN5A | c.5711C>T (p.Ala1904Val) c.5714C>T (p.Ala1905Val) c.5660C>T (p.Ala1887Val) c.5552C>T (p.Ala1851Val) c.5615C>T (p.Ala1872Val) c.5585C>T (p.Ala1862Val) c.5657C>T (p.Ala1886Val) | |
| 3 | g.38550658G>C | CA352140224 | SCN5A | c.5711C>G (p.Ala1904Gly) c.5714C>G (p.Ala1905Gly) c.5660C>G (p.Ala1887Gly) c.5552C>G (p.Ala1851Gly) c.5615C>G (p.Ala1872Gly) c.5585C>G (p.Ala1862Gly) c.5657C>G (p.Ala1886Gly) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38550658G>T | CA352140225 | SCN5A | c.5711C>A (p.Ala1904Asp) c.5714C>A (p.Ala1905Asp) c.5660C>A (p.Ala1887Asp) c.5552C>A (p.Ala1851Asp) c.5615C>A (p.Ala1872Asp) c.5585C>A (p.Ala1862Asp) c.5657C>A (p.Ala1886Asp) | |
| 3 | g.38550659C>A | CA352140227 | SCN5A | c.5710G>T (p.Ala1904Ser) c.5713G>T (p.Ala1905Ser) c.5659G>T (p.Ala1887Ser) c.5551G>T (p.Ala1851Ser) c.5614G>T (p.Ala1872Ser) c.5584G>T (p.Ala1862Ser) c.5656G>T (p.Ala1886Ser) | |
| 3 | g.38550659C>G | CA352140229 | SCN5A | c.5710G>C (p.Ala1904Pro) c.5713G>C (p.Ala1905Pro) c.5659G>C (p.Ala1887Pro) c.5551G>C (p.Ala1851Pro) c.5614G>C (p.Ala1872Pro) c.5584G>C (p.Ala1862Pro) c.5656G>C (p.Ala1886Pro) | |
| 3 | g.38550659C>T | CA352140231 | SCN5A | c.5710G>A (p.Ala1904Thr) c.5713G>A (p.Ala1905Thr) c.5659G>A (p.Ala1887Thr) c.5551G>A (p.Ala1851Thr) c.5614G>A (p.Ala1872Thr) c.5584G>A (p.Ala1862Thr) c.5656G>A (p.Ala1886Thr) | COSMIC COSMIC COSMIC |
| 3 | g.38550660C>A | CA433331563 | SCN5A | c.5709G>T (p.Ser1903=) c.5712G>T (p.Ser1904=) c.5658G>T (p.Ser1886=) c.5550G>T (p.Ser1850=) c.5613G>T (p.Ser1871=) c.5583G>T (p.Ser1861=) c.5655G>T (p.Ser1885=) | gnomAD v4 |
| 3 | g.38550660C= | CA1358556338 | SCN5A | c.5709G= (p.Ser1903=) c.5712G= (p.Ser1904=) c.5658G= (p.Ser1886=) c.5550G= (p.Ser1850=) c.5613G= (p.Ser1871=) c.5583G= (p.Ser1861=) c.5655G= (p.Ser1885=) | |
| 3 | g.38550660C>G | CA433331561 | SCN5A | c.5709G>C (p.Ser1903=) c.5712G>C (p.Ser1904=) c.5658G>C (p.Ser1886=) c.5550G>C (p.Ser1850=) c.5613G>C (p.Ser1871=) c.5583G>C (p.Ser1861=) c.5655G>C (p.Ser1885=) | |
| 3 | g.38550660C>T | CA064690 | SCN5A | c.5709G>A (p.Ser1903=) c.5712G>A (p.Ser1904=) c.5658G>A (p.Ser1886=) c.5550G>A (p.Ser1850=) c.5613G>A (p.Ser1871=) c.5583G>A (p.Ser1861=) c.5655G>A (p.Ser1885=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38550661G>A | CA019439 | SCN5A | c.5708C>T (p.Ser1903Leu) c.5711C>T (p.Ser1904Leu) c.5657C>T (p.Ser1886Leu) c.5549C>T (p.Ser1850Leu) c.5612C>T (p.Ser1871Leu) c.5582C>T (p.Ser1861Leu) c.5654C>T (p.Ser1885Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38550661G>C | CA352140235 | SCN5A | c.5708C>G (p.Ser1903Trp) c.5711C>G (p.Ser1904Trp) c.5657C>G (p.Ser1886Trp) c.5549C>G (p.Ser1850Trp) c.5612C>G (p.Ser1871Trp) c.5582C>G (p.Ser1861Trp) c.5654C>G (p.Ser1885Trp) | ClinVar dbSNP |
| 3 | g.38550661G= | CA1358556346 | SCN5A | c.5708C= (p.Ser1903=) c.5711C= (p.Ser1904=) c.5657C= (p.Ser1886=) c.5549C= (p.Ser1850=) c.5612C= (p.Ser1871=) c.5582C= (p.Ser1861=) c.5654C= (p.Ser1885=) | |
| 3 | g.38550661G>T | CA352140236 | SCN5A | c.5708C>A (p.Ser1903Ter) c.5711C>A (p.Ser1904Ter) c.5657C>A (p.Ser1886Ter) c.5549C>A (p.Ser1850Ter) c.5612C>A (p.Ser1871Ter) c.5582C>A (p.Ser1861Ter) c.5654C>A (p.Ser1885Ter) | dbSNP gnomAD v4 |
| 3 | g.38550662A>C | CA352140238 | SCN5A | c.5707T>G (p.Ser1903Ala) c.5710T>G (p.Ser1904Ala) c.5656T>G (p.Ser1886Ala) c.5548T>G (p.Ser1850Ala) c.5611T>G (p.Ser1871Ala) c.5581T>G (p.Ser1861Ala) c.5653T>G (p.Ser1885Ala) | |
| 3 | g.38550662A>G | CA352140240 | SCN5A | c.5707T>C (p.Ser1903Pro) c.5710T>C (p.Ser1904Pro) c.5656T>C (p.Ser1886Pro) c.5548T>C (p.Ser1850Pro) c.5611T>C (p.Ser1871Pro) c.5581T>C (p.Ser1861Pro) c.5653T>C (p.Ser1885Pro) | |
| 3 | g.38550662A>T | CA352140242 | SCN5A | c.5707T>A (p.Ser1903Thr) c.5710T>A (p.Ser1904Thr) c.5656T>A (p.Ser1886Thr) c.5548T>A (p.Ser1850Thr) c.5611T>A (p.Ser1871Thr) c.5581T>A (p.Ser1861Thr) c.5653T>A (p.Ser1885Thr) | |
| 3 | g.38550663C>A | CA433331565 | SCN5A | c.5706G>T (p.Val1902=) c.5709G>T (p.Val1903=) c.5655G>T (p.Val1885=) c.5547G>T (p.Val1849=) c.5610G>T (p.Val1870=) c.5580G>T (p.Val1860=) c.5652G>T (p.Val1884=) | |
| 3 | g.38550663C>G | CA433331566 | SCN5A | c.5706G>C (p.Val1902=) c.5709G>C (p.Val1903=) c.5655G>C (p.Val1885=) c.5547G>C (p.Val1849=) c.5610G>C (p.Val1870=) c.5580G>C (p.Val1860=) c.5652G>C (p.Val1884=) | |
| 3 | g.38550663C>T | CA433331567 | SCN5A | c.5706G>A (p.Val1902=) c.5709G>A (p.Val1903=) c.5655G>A (p.Val1885=) c.5547G>A (p.Val1849=) c.5610G>A (p.Val1870=) c.5580G>A (p.Val1860=) c.5652G>A (p.Val1884=) | |
| 3 | g.38550664A>C | CA352140243 | SCN5A | c.5705T>G (p.Val1902Gly) c.5708T>G (p.Val1903Gly) c.5654T>G (p.Val1885Gly) c.5546T>G (p.Val1849Gly) c.5609T>G (p.Val1870Gly) c.5579T>G (p.Val1860Gly) c.5651T>G (p.Val1884Gly) | |
| 3 | g.38550664A>G | CA352140244 | SCN5A | c.5705T>C (p.Val1902Ala) c.5708T>C (p.Val1903Ala) c.5654T>C (p.Val1885Ala) c.5546T>C (p.Val1849Ala) c.5609T>C (p.Val1870Ala) c.5579T>C (p.Val1860Ala) c.5651T>C (p.Val1884Ala) | ClinVar dbSNP |
| 3 | g.38550664A>T | CA352140246 | SCN5A | c.5705T>A (p.Val1902Glu) c.5708T>A (p.Val1903Glu) c.5654T>A (p.Val1885Glu) c.5546T>A (p.Val1849Glu) c.5609T>A (p.Val1870Glu) c.5579T>A (p.Val1860Glu) c.5651T>A (p.Val1884Glu) | |
| 3 | g.38550665C>A | CA348136 | SCN5A | c.5704G>T (p.Val1902Leu) c.5707G>T (p.Val1903Leu) c.5653G>T (p.Val1885Leu) c.5545G>T (p.Val1849Leu) c.5608G>T (p.Val1870Leu) c.5578G>T (p.Val1860Leu) c.5650G>T (p.Val1884Leu) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38550665C= | CA1358556351 | SCN5A | c.5704G= (p.Val1902=) c.5707G= (p.Val1903=) c.5653G= (p.Val1885=) c.5545G= (p.Val1849=) c.5608G= (p.Val1870=) c.5578G= (p.Val1860=) c.5650G= (p.Val1884=) | |
| 3 | g.38550665C>G | CA352140249 | SCN5A | c.5704G>C (p.Val1902Leu) c.5707G>C (p.Val1903Leu) c.5653G>C (p.Val1885Leu) c.5545G>C (p.Val1849Leu) c.5608G>C (p.Val1870Leu) c.5578G>C (p.Val1860Leu) c.5650G>C (p.Val1884Leu) | |
| 3 | g.38550665C>T | CA352140251 | SCN5A | c.5704G>A (p.Val1902Met) c.5707G>A (p.Val1903Met) c.5653G>A (p.Val1885Met) c.5545G>A (p.Val1849Met) c.5608G>A (p.Val1870Met) c.5578G>A (p.Val1860Met) c.5650G>A (p.Val1884Met) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38550666C>A | CA352140255 | SCN5A | c.5703G>T (p.Glu1901Asp) c.5706G>T (p.Glu1902Asp) c.5652G>T (p.Glu1884Asp) c.5544G>T (p.Glu1848Asp) c.5607G>T (p.Glu1869Asp) c.5577G>T (p.Glu1859Asp) c.5649G>T (p.Glu1883Asp) | |
| 3 | g.38550666C>G | CA352140253 | SCN5A | c.5703G>C (p.Glu1901Asp) c.5706G>C (p.Glu1902Asp) c.5652G>C (p.Glu1884Asp) c.5544G>C (p.Glu1848Asp) c.5607G>C (p.Glu1869Asp) c.5577G>C (p.Glu1859Asp) c.5649G>C (p.Glu1883Asp) | gnomAD v4 |
| 3 | g.38550666C>T | CA433331575 | SCN5A | c.5703G>A (p.Glu1901=) c.5706G>A (p.Glu1902=) c.5652G>A (p.Glu1884=) c.5544G>A (p.Glu1848=) c.5607G>A (p.Glu1869=) c.5577G>A (p.Glu1859=) c.5649G>A (p.Glu1883=) | |
| 3 | g.38550667T>A | CA352140257 | SCN5A | c.5702A>T (p.Glu1901Val) c.5705A>T (p.Glu1902Val) c.5651A>T (p.Glu1884Val) c.5543A>T (p.Glu1848Val) c.5606A>T (p.Glu1869Val) c.5576A>T (p.Glu1859Val) c.5648A>T (p.Glu1883Val) | dbSNP |
| 3 | g.38550667T>C | CA352140261 | SCN5A | c.5702A>G (p.Glu1901Gly) c.5705A>G (p.Glu1902Gly) c.5651A>G (p.Glu1884Gly) c.5543A>G (p.Glu1848Gly) c.5606A>G (p.Glu1869Gly) c.5576A>G (p.Glu1859Gly) c.5648A>G (p.Glu1883Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38550667T>G | CA352140259 | SCN5A | c.5702A>C (p.Glu1901Ala) c.5705A>C (p.Glu1902Ala) c.5651A>C (p.Glu1884Ala) c.5543A>C (p.Glu1848Ala) c.5606A>C (p.Glu1869Ala) c.5576A>C (p.Glu1859Ala) c.5648A>C (p.Glu1883Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38550667T= | CA1358556357 | SCN5A | c.5702A= (p.Glu1901=) c.5705A= (p.Glu1902=) c.5651A= (p.Glu1884=) c.5543A= (p.Glu1848=) c.5606A= (p.Glu1869=) c.5576A= (p.Glu1859=) c.5648A= (p.Glu1883=) | |
| 3 | g.38550669_38550671dup | CA2665106301 | SCN5A | c.5700_5702dup (p.Glu1901_Val1902insGlu) c.5703_5705dup (p.Glu1902_Val1903insGlu) c.5649_5651dup (p.Glu1884_Val1885insGlu) c.5541_5543dup (p.Glu1848_Val1849insGlu) c.5604_5606dup (p.Glu1869_Val1870insGlu) c.5574_5576dup (p.Glu1859_Val1860insGlu) c.5646_5648dup (p.Glu1883_Val1884insGlu) | gnomAD v4 |
| 3 | g.38550668C>A | CA352140263 | SCN5A | c.5701G>T (p.Glu1901Ter) c.5704G>T (p.Glu1902Ter) c.5650G>T (p.Glu1884Ter) c.5542G>T (p.Glu1848Ter) c.5605G>T (p.Glu1869Ter) c.5575G>T (p.Glu1859Ter) c.5647G>T (p.Glu1883Ter) | dbSNP |
| 3 | g.38550668C= | CA1358556361 | SCN5A | c.5701G= (p.Glu1901=) c.5704G= (p.Glu1902=) c.5650G= (p.Glu1884=) c.5542G= (p.Glu1848=) c.5605G= (p.Glu1869=) c.5575G= (p.Glu1859=) c.5647G= (p.Glu1883=) | |
| 3 | g.38550668C>G | CA352140265 | SCN5A | c.5701G>C (p.Glu1901Gln) c.5704G>C (p.Glu1902Gln) c.5650G>C (p.Glu1884Gln) c.5542G>C (p.Glu1848Gln) c.5605G>C (p.Glu1869Gln) c.5575G>C (p.Glu1859Gln) c.5647G>C (p.Glu1883Gln) | ClinVar dbSNP |
| 3 | g.38550668C>T | CA352140266 | SCN5A | c.5701G>A (p.Glu1901Lys) c.5704G>A (p.Glu1902Lys) c.5650G>A (p.Glu1884Lys) c.5542G>A (p.Glu1848Lys) c.5605G>A (p.Glu1869Lys) c.5575G>A (p.Glu1859Lys) c.5647G>A (p.Glu1883Lys) | gnomAD v4 |
| 3 | g.38550669T>A | CA352140268 | SCN5A | c.5700A>T (p.Glu1900Asp) c.5703A>T (p.Glu1901Asp) c.5649A>T (p.Glu1883Asp) c.5541A>T (p.Glu1847Asp) c.5604A>T (p.Glu1868Asp) c.5574A>T (p.Glu1858Asp) c.5646A>T (p.Glu1882Asp) | |
| 3 | g.38550669T>C | CA433331582 | SCN5A | c.5700A>G (p.Glu1900=) c.5703A>G (p.Glu1901=) c.5649A>G (p.Glu1883=) c.5541A>G (p.Glu1847=) c.5604A>G (p.Glu1868=) c.5574A>G (p.Glu1858=) c.5646A>G (p.Glu1882=) |