| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.38551022C>A | CA352141349 | SCN5A | c.5347G>T (p.Glu1783Ter) c.5350G>T (p.Glu1784Ter) c.5296G>T (p.Glu1766Ter) c.5188G>T (p.Glu1730Ter) c.5251G>T (p.Glu1751Ter) c.5221G>T (p.Glu1741Ter) c.5293G>T (p.Glu1765Ter) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38551022C= | CA1358557197 | SCN5A | c.5347G= (p.Glu1783=) c.5350G= (p.Glu1784=) c.5296G= (p.Glu1766=) c.5188G= (p.Glu1730=) c.5251G= (p.Glu1751=) c.5221G= (p.Glu1741=) c.5293G= (p.Glu1765=) | |
| 3 | g.38551022C>G | CA352141351 | SCN5A | c.5347G>C (p.Glu1783Gln) c.5350G>C (p.Glu1784Gln) c.5296G>C (p.Glu1766Gln) c.5188G>C (p.Glu1730Gln) c.5251G>C (p.Glu1751Gln) c.5221G>C (p.Glu1741Gln) c.5293G>C (p.Glu1765Gln) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38551022C>T | CA019148 | SCN5A | c.5347G>A (p.Glu1783Lys) c.5350G>A (p.Glu1784Lys) c.5296G>A (p.Glu1766Lys) c.5188G>A (p.Glu1730Lys) c.5251G>A (p.Glu1751Lys) c.5221G>A (p.Glu1741Lys) c.5293G>A (p.Glu1765Lys) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.38551023G>A | CA72937955 | SCN5A | c.5346C>T (p.Thr1782=) c.5349C>T (p.Thr1783=) c.5295C>T (p.Thr1765=) c.5187C>T (p.Thr1729=) c.5250C>T (p.Thr1750=) c.5220C>T (p.Thr1740=) c.5292C>T (p.Thr1764=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38551023G>C | CA433331909 | SCN5A | c.5346C>G (p.Thr1782=) c.5349C>G (p.Thr1783=) c.5295C>G (p.Thr1765=) c.5187C>G (p.Thr1729=) c.5250C>G (p.Thr1750=) c.5220C>G (p.Thr1740=) c.5292C>G (p.Thr1764=) | |
| 3 | g.38551023G= | CA1358557202 | SCN5A | c.5346C= (p.Thr1782=) c.5349C= (p.Thr1783=) c.5295C= (p.Thr1765=) c.5187C= (p.Thr1729=) c.5250C= (p.Thr1750=) c.5220C= (p.Thr1740=) c.5292C= (p.Thr1764=) | |
| 3 | g.38551023G>T | CA433331911 | SCN5A | c.5346C>A (p.Thr1782=) c.5349C>A (p.Thr1783=) c.5295C>A (p.Thr1765=) c.5187C>A (p.Thr1729=) c.5250C>A (p.Thr1750=) c.5220C>A (p.Thr1740=) c.5292C>A (p.Thr1764=) | |
| 3 | g.38551024G>A | CA352141360 | SCN5A | c.5345C>T (p.Thr1782Ile) c.5348C>T (p.Thr1783Ile) c.5294C>T (p.Thr1765Ile) c.5186C>T (p.Thr1729Ile) c.5249C>T (p.Thr1750Ile) c.5219C>T (p.Thr1740Ile) c.5291C>T (p.Thr1764Ile) | ClinVar dbSNP COSMIC COSMIC COSMIC |
| 3 | g.38551024G>C | CA019145 | SCN5A | c.5345C>G (p.Thr1782Ser) c.5348C>G (p.Thr1783Ser) c.5294C>G (p.Thr1765Ser) c.5186C>G (p.Thr1729Ser) c.5249C>G (p.Thr1750Ser) c.5219C>G (p.Thr1740Ser) c.5291C>G (p.Thr1764Ser) | ClinVar dbSNP |
| 3 | g.38551024G= | CA1358557210 | SCN5A | c.5345C= (p.Thr1782=) c.5348C= (p.Thr1783=) c.5294C= (p.Thr1765=) c.5186C= (p.Thr1729=) c.5249C= (p.Thr1750=) c.5219C= (p.Thr1740=) c.5291C= (p.Thr1764=) | |
| 3 | g.38551024G>T | CA352141359 | SCN5A | c.5345C>A (p.Thr1782Asn) c.5348C>A (p.Thr1783Asn) c.5294C>A (p.Thr1765Asn) c.5186C>A (p.Thr1729Asn) c.5249C>A (p.Thr1750Asn) c.5219C>A (p.Thr1740Asn) c.5291C>A (p.Thr1764Asn) | |
| 3 | g.38551025T>A | CA352141363 | SCN5A | c.5344A>T (p.Thr1782Ser) c.5347A>T (p.Thr1783Ser) c.5293A>T (p.Thr1765Ser) c.5185A>T (p.Thr1729Ser) c.5248A>T (p.Thr1750Ser) c.5218A>T (p.Thr1740Ser) c.5290A>T (p.Thr1764Ser) | |
| 3 | g.38551025T>C | CA352141365 | SCN5A | c.5344A>G (p.Thr1782Ala) c.5347A>G (p.Thr1783Ala) c.5293A>G (p.Thr1765Ala) c.5185A>G (p.Thr1729Ala) c.5248A>G (p.Thr1750Ala) c.5218A>G (p.Thr1740Ala) c.5290A>G (p.Thr1764Ala) | |
| 3 | g.38551025T>G | CA352141367 | SCN5A | c.5344A>C (p.Thr1782Pro) c.5347A>C (p.Thr1783Pro) c.5293A>C (p.Thr1765Pro) c.5185A>C (p.Thr1729Pro) c.5248A>C (p.Thr1750Pro) c.5218A>C (p.Thr1740Pro) c.5290A>C (p.Thr1764Pro) | |
| 3 | g.38551026G>A | CA433331927 | SCN5A | c.5343C>T (p.Ser1781=) c.5346C>T (p.Ser1782=) c.5292C>T (p.Ser1764=) c.5184C>T (p.Ser1728=) c.5247C>T (p.Ser1749=) c.5217C>T (p.Ser1739=) c.5289C>T (p.Ser1763=) | |
| 3 | g.38551026G>C | CA352141370 | SCN5A | c.5343C>G (p.Ser1781Arg) c.5346C>G (p.Ser1782Arg) c.5292C>G (p.Ser1764Arg) c.5184C>G (p.Ser1728Arg) c.5247C>G (p.Ser1749Arg) c.5217C>G (p.Ser1739Arg) c.5289C>G (p.Ser1763Arg) | |
| 3 | g.38551026G>T | CA352141372 | SCN5A | c.5343C>A (p.Ser1781Arg) c.5346C>A (p.Ser1782Arg) c.5292C>A (p.Ser1764Arg) c.5184C>A (p.Ser1728Arg) c.5247C>A (p.Ser1749Arg) c.5217C>A (p.Ser1739Arg) c.5289C>A (p.Ser1763Arg) | |
| 3 | g.38551027C>A | CA352141373 | SCN5A | c.5342G>T (p.Ser1781Ile) c.5345G>T (p.Ser1782Ile) c.5291G>T (p.Ser1764Ile) c.5183G>T (p.Ser1728Ile) c.5246G>T (p.Ser1749Ile) c.5216G>T (p.Ser1739Ile) c.5288G>T (p.Ser1763Ile) | |
| 3 | g.38551027C>G | CA352141374 | SCN5A | c.5342G>C (p.Ser1781Thr) c.5345G>C (p.Ser1782Thr) c.5291G>C (p.Ser1764Thr) c.5183G>C (p.Ser1728Thr) c.5246G>C (p.Ser1749Thr) c.5216G>C (p.Ser1739Thr) c.5288G>C (p.Ser1763Thr) | gnomAD v4 |
| 3 | g.38551027C>T | CA352141375 | SCN5A | c.5342G>A (p.Ser1781Asn) c.5345G>A (p.Ser1782Asn) c.5291G>A (p.Ser1764Asn) c.5183G>A (p.Ser1728Asn) c.5246G>A (p.Ser1749Asn) c.5216G>A (p.Ser1739Asn) c.5288G>A (p.Ser1763Asn) | |
| 3 | g.38551030_38551031del | CA2580614200 | SCN5A | c.5341_5342del (p.Ser1781HisfsTer6) c.5344_5345del (p.Ser1782HisfsTer6) c.5290_5291del (p.Ser1764HisfsTer6) c.5182_5183del (p.Ser1728HisfsTer6) c.5245_5246del (p.Ser1749HisfsTer6) c.5215_5216del (p.Ser1739HisfsTer6) c.5287_5288del (p.Ser1763HisfsTer6) | ClinVar gnomAD v4 |
| 3 | g.38551028T>A | CA352141377 | SCN5A | c.5341A>T (p.Ser1781Cys) c.5344A>T (p.Ser1782Cys) c.5290A>T (p.Ser1764Cys) c.5182A>T (p.Ser1728Cys) c.5245A>T (p.Ser1749Cys) c.5215A>T (p.Ser1739Cys) c.5287A>T (p.Ser1763Cys) | |
| 3 | g.38551028T>C | CA352141379 | SCN5A | c.5341A>G (p.Ser1781Gly) c.5344A>G (p.Ser1782Gly) c.5290A>G (p.Ser1764Gly) c.5182A>G (p.Ser1728Gly) c.5245A>G (p.Ser1749Gly) c.5215A>G (p.Ser1739Gly) c.5287A>G (p.Ser1763Gly) | |
| 3 | g.38551028T>G | CA352141381 | SCN5A | c.5341A>C (p.Ser1781Arg) c.5344A>C (p.Ser1782Arg) c.5290A>C (p.Ser1764Arg) c.5182A>C (p.Ser1728Arg) c.5245A>C (p.Ser1749Arg) c.5215A>C (p.Ser1739Arg) c.5287A>C (p.Ser1763Arg) | |
| 3 | g.38551029C>A | CA352141385 | SCN5A | c.5340G>T (p.Glu1780Asp) c.5343G>T (p.Glu1781Asp) c.5289G>T (p.Glu1763Asp) c.5181G>T (p.Glu1727Asp) c.5244G>T (p.Glu1748Asp) c.5214G>T (p.Glu1738Asp) c.5286G>T (p.Glu1762Asp) | |
| 3 | g.38551029C= | CA1358557219 | SCN5A | c.5340G= (p.Glu1780=) c.5343G= (p.Glu1781=) c.5289G= (p.Glu1763=) c.5181G= (p.Glu1727=) c.5244G= (p.Glu1748=) c.5214G= (p.Glu1738=) c.5286G= (p.Glu1762=) | |
| 3 | g.38551029C>G | CA352141387 | SCN5A | c.5340G>C (p.Glu1780Asp) c.5343G>C (p.Glu1781Asp) c.5289G>C (p.Glu1763Asp) c.5181G>C (p.Glu1727Asp) c.5244G>C (p.Glu1748Asp) c.5214G>C (p.Glu1738Asp) c.5286G>C (p.Glu1762Asp) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.38551029C>T | CA064339 | SCN5A | c.5340G>A (p.Glu1780=) c.5343G>A (p.Glu1781=) c.5289G>A (p.Glu1763=) c.5181G>A (p.Glu1727=) c.5244G>A (p.Glu1748=) c.5214G>A (p.Glu1738=) c.5286G>A (p.Glu1762=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38551030T>A | CA352141390 | SCN5A | c.5339A>T (p.Glu1780Val) c.5342A>T (p.Glu1781Val) c.5288A>T (p.Glu1763Val) c.5180A>T (p.Glu1727Val) c.5243A>T (p.Glu1748Val) c.5213A>T (p.Glu1738Val) c.5285A>T (p.Glu1762Val) | |
| 3 | g.38551030T>C | CA352141392 | SCN5A | c.5339A>G (p.Glu1780Gly) c.5342A>G (p.Glu1781Gly) c.5288A>G (p.Glu1763Gly) c.5180A>G (p.Glu1727Gly) c.5243A>G (p.Glu1748Gly) c.5213A>G (p.Glu1738Gly) c.5285A>G (p.Glu1762Gly) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38551030T>G | CA352141394 | SCN5A | c.5339A>C (p.Glu1780Ala) c.5342A>C (p.Glu1781Ala) c.5288A>C (p.Glu1763Ala) c.5180A>C (p.Glu1727Ala) c.5243A>C (p.Glu1748Ala) c.5213A>C (p.Glu1738Ala) c.5285A>C (p.Glu1762Ala) | |
| 3 | g.38551030T= | CA1358557227 | SCN5A | c.5339A= (p.Glu1780=) c.5342A= (p.Glu1781=) c.5288A= (p.Glu1763=) c.5180A= (p.Glu1727=) c.5243A= (p.Glu1748=) c.5213A= (p.Glu1738=) c.5285A= (p.Glu1762=) | |
| 3 | g.38551031C>A | CA352141398 | SCN5A | c.5338G>T (p.Glu1780Ter) c.5341G>T (p.Glu1781Ter) c.5287G>T (p.Glu1763Ter) c.5179G>T (p.Glu1727Ter) c.5242G>T (p.Glu1748Ter) c.5212G>T (p.Glu1738Ter) c.5284G>T (p.Glu1762Ter) | dbSNP |
| 3 | g.38551031C= | CA1358557229 | SCN5A | c.5338G= (p.Glu1780=) c.5341G= (p.Glu1781=) c.5287G= (p.Glu1763=) c.5179G= (p.Glu1727=) c.5242G= (p.Glu1748=) c.5212G= (p.Glu1738=) c.5284G= (p.Glu1762=) | |
| 3 | g.38551031C>G | CA352141400 | SCN5A | c.5338G>C (p.Glu1780Gln) c.5341G>C (p.Glu1781Gln) c.5287G>C (p.Glu1763Gln) c.5179G>C (p.Glu1727Gln) c.5242G>C (p.Glu1748Gln) c.5212G>C (p.Glu1738Gln) c.5284G>C (p.Glu1762Gln) | |
| 3 | g.38551031C>T | CA352141401 | SCN5A | c.5338G>A (p.Glu1780Lys) c.5341G>A (p.Glu1781Lys) c.5287G>A (p.Glu1763Lys) c.5179G>A (p.Glu1727Lys) c.5242G>A (p.Glu1748Lys) c.5212G>A (p.Glu1738Lys) c.5284G>A (p.Glu1762Lys) | COSMIC COSMIC COSMIC |
| 3 | g.38551032C>A | CA352141404 | SCN5A | c.5337G>T (p.Glu1779Asp) c.5340G>T (p.Glu1780Asp) c.5286G>T (p.Glu1762Asp) c.5178G>T (p.Glu1726Asp) c.5241G>T (p.Glu1747Asp) c.5211G>T (p.Glu1737Asp) c.5283G>T (p.Glu1761Asp) | |
| 3 | g.38551032C>G | CA352141403 | SCN5A | c.5337G>C (p.Glu1779Asp) c.5340G>C (p.Glu1780Asp) c.5286G>C (p.Glu1762Asp) c.5178G>C (p.Glu1726Asp) c.5241G>C (p.Glu1747Asp) c.5211G>C (p.Glu1737Asp) c.5283G>C (p.Glu1761Asp) | |
| 3 | g.38551032C>T | CA433331944 | SCN5A | c.5337G>A (p.Glu1779=) c.5340G>A (p.Glu1780=) c.5286G>A (p.Glu1762=) c.5178G>A (p.Glu1726=) c.5241G>A (p.Glu1747=) c.5211G>A (p.Glu1737=) c.5283G>A (p.Glu1761=) | COSMIC COSMIC COSMIC |
| 3 | g.38551033T>A | CA352141407 | SCN5A | c.5336A>T (p.Glu1779Val) c.5339A>T (p.Glu1780Val) c.5285A>T (p.Glu1762Val) c.5177A>T (p.Glu1726Val) c.5240A>T (p.Glu1747Val) c.5210A>T (p.Glu1737Val) c.5282A>T (p.Glu1761Val) | |
| 3 | g.38551033T>C | CA352141409 | SCN5A | c.5336A>G (p.Glu1779Gly) c.5339A>G (p.Glu1780Gly) c.5285A>G (p.Glu1762Gly) c.5177A>G (p.Glu1726Gly) c.5240A>G (p.Glu1747Gly) c.5210A>G (p.Glu1737Gly) c.5282A>G (p.Glu1761Gly) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38551033T>G | CA352141410 | SCN5A | c.5336A>C (p.Glu1779Ala) c.5339A>C (p.Glu1780Ala) c.5285A>C (p.Glu1762Ala) c.5177A>C (p.Glu1726Ala) c.5240A>C (p.Glu1747Ala) c.5210A>C (p.Glu1737Ala) c.5282A>C (p.Glu1761Ala) | |
| 3 | g.38551033T= | CA1358557232 | SCN5A | c.5336A= (p.Glu1779=) c.5339A= (p.Glu1780=) c.5285A= (p.Glu1762=) c.5177A= (p.Glu1726=) c.5240A= (p.Glu1747=) c.5210A= (p.Glu1737=) c.5282A= (p.Glu1761=) | |
| 3 | g.38551034C>A | CA352141412 | SCN5A | c.5335G>T (p.Glu1779Ter) c.5338G>T (p.Glu1780Ter) c.5284G>T (p.Glu1762Ter) c.5176G>T (p.Glu1726Ter) c.5239G>T (p.Glu1747Ter) c.5209G>T (p.Glu1737Ter) c.5281G>T (p.Glu1761Ter) | dbSNP |
| 3 | g.38551034C= | CA1358557234 | SCN5A | c.5335G= (p.Glu1779=) c.5338G= (p.Glu1780=) c.5284G= (p.Glu1762=) c.5176G= (p.Glu1726=) c.5239G= (p.Glu1747=) c.5209G= (p.Glu1737=) c.5281G= (p.Glu1761=) | |
| 3 | g.38551034C>G | CA352141414 | SCN5A | c.5335G>C (p.Glu1779Gln) c.5338G>C (p.Glu1780Gln) c.5284G>C (p.Glu1762Gln) c.5176G>C (p.Glu1726Gln) c.5239G>C (p.Glu1747Gln) c.5209G>C (p.Glu1737Gln) c.5281G>C (p.Glu1761Gln) | |
| 3 | g.38551034C>T | CA352141416 | SCN5A | c.5335G>A (p.Glu1779Lys) c.5338G>A (p.Glu1780Lys) c.5284G>A (p.Glu1762Lys) c.5176G>A (p.Glu1726Lys) c.5239G>A (p.Glu1747Lys) c.5209G>A (p.Glu1737Lys) c.5281G>A (p.Glu1761Lys) | COSMIC COSMIC COSMIC |
| 3 | g.38551035C>A | CA433331947 | SCN5A | c.5334G>T (p.Thr1778=) c.5337G>T (p.Thr1779=) c.5283G>T (p.Thr1761=) c.5175G>T (p.Thr1725=) c.5238G>T (p.Thr1746=) c.5208G>T (p.Thr1736=) c.5280G>T (p.Thr1760=) | |
| 3 | g.38551035C= | CA1358557236 | SCN5A | c.5334G= (p.Thr1778=) c.5337G= (p.Thr1779=) c.5283G= (p.Thr1761=) c.5175G= (p.Thr1725=) c.5238G= (p.Thr1746=) c.5208G= (p.Thr1736=) c.5280G= (p.Thr1760=) |