| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.38550830_38550844del | CA019314 | SCN5A | c.5526_5540del (p.Ser1843_Ile1847del) c.5529_5543del (p.Ser1844_Ile1848del) c.5475_5489del (p.Ser1826_Ile1830del) c.5367_5381del (p.Ser1790_Ile1794del) c.5430_5444del (p.Ser1811_Ile1815del) c.5400_5414del (p.Ser1801_Ile1805del) c.5472_5486del (p.Ser1825_Ile1829del) | ClinVar dbSNP |
| 3 | g.38550842_38550845dup | CA16617941 | SCN5A | c.5527_5530dup (p.Gly1844GlufsTer?) c.5530_5533dup (p.Gly1845GlufsTer?) c.5476_5479dup (p.Gly1827GlufsTer?) c.5368_5371dup (p.Gly1791GlufsTer?) c.5431_5434dup (p.Gly1812GlufsTer?) c.5401_5404dup (p.Gly1802GlufsTer?) c.5473_5476dup (p.Gly1826GlufsTer?) | ClinVar dbSNP |
| 3 | g.38550844A>C | CA352140917 | SCN5A | c.5525T>G (p.Val1842Gly) c.5528T>G (p.Val1843Gly) c.5474T>G (p.Val1825Gly) c.5366T>G (p.Val1789Gly) c.5429T>G (p.Val1810Gly) c.5399T>G (p.Val1800Gly) c.5471T>G (p.Val1824Gly) | |
| 3 | g.38550844A>G | CA352140918 | SCN5A | c.5525T>C (p.Val1842Ala) c.5528T>C (p.Val1843Ala) c.5474T>C (p.Val1825Ala) c.5366T>C (p.Val1789Ala) c.5429T>C (p.Val1810Ala) c.5399T>C (p.Val1800Ala) c.5471T>C (p.Val1824Ala) | |
| 3 | g.38550844A>T | CA352140919 | SCN5A | c.5525T>A (p.Val1842Glu) c.5528T>A (p.Val1843Glu) c.5474T>A (p.Val1825Glu) c.5366T>A (p.Val1789Glu) c.5429T>A (p.Val1810Glu) c.5399T>A (p.Val1800Glu) c.5471T>A (p.Val1824Glu) | |
| 3 | g.38550845C>A | CA352140920 | SCN5A | c.5524G>T (p.Val1842Leu) c.5527G>T (p.Val1843Leu) c.5473G>T (p.Val1825Leu) c.5365G>T (p.Val1789Leu) c.5428G>T (p.Val1810Leu) c.5398G>T (p.Val1800Leu) c.5470G>T (p.Val1824Leu) | ClinVar gnomAD v4 |
| 3 | g.38550845C= | CA1358556726 | SCN5A | c.5524G= (p.Val1842=) c.5527G= (p.Val1843=) c.5473G= (p.Val1825=) c.5365G= (p.Val1789=) c.5428G= (p.Val1810=) c.5398G= (p.Val1800=) c.5470G= (p.Val1824=) | |
| 3 | g.38550845C>G | CA352140921 | SCN5A | c.5524G>C (p.Val1842Leu) c.5527G>C (p.Val1843Leu) c.5473G>C (p.Val1825Leu) c.5365G>C (p.Val1789Leu) c.5428G>C (p.Val1810Leu) c.5398G>C (p.Val1800Leu) c.5470G>C (p.Val1824Leu) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38550845C>T | CA352140922 | SCN5A | c.5524G>A (p.Val1842Met) c.5527G>A (p.Val1843Met) c.5473G>A (p.Val1825Met) c.5365G>A (p.Val1789Met) c.5428G>A (p.Val1810Met) c.5398G>A (p.Val1800Met) c.5470G>A (p.Val1824Met) | |
| 3 | g.38550846C>A | CA352140923 | SCN5A | c.5523G>T (p.Met1841Ile) c.5526G>T (p.Met1842Ile) c.5472G>T (p.Met1824Ile) c.5364G>T (p.Met1788Ile) c.5427G>T (p.Met1809Ile) c.5397G>T (p.Met1799Ile) c.5469G>T (p.Met1823Ile) | gnomAD v4 |
| 3 | g.38550846C>G | CA352140924 | SCN5A | c.5523G>C (p.Met1841Ile) c.5526G>C (p.Met1842Ile) c.5472G>C (p.Met1824Ile) c.5364G>C (p.Met1788Ile) c.5427G>C (p.Met1809Ile) c.5397G>C (p.Met1799Ile) c.5469G>C (p.Met1823Ile) | |
| 3 | g.38550846C>T | CA352140925 | SCN5A | c.5523G>A (p.Met1841Ile) c.5526G>A (p.Met1842Ile) c.5472G>A (p.Met1824Ile) c.5364G>A (p.Met1788Ile) c.5427G>A (p.Met1809Ile) c.5397G>A (p.Met1799Ile) c.5469G>A (p.Met1823Ile) | ClinVar dbSNP COSMIC COSMIC COSMIC |
| 3 | g.38550847A= | CA1358556729 | SCN5A | c.5522T= (p.Met1841=) c.5525T= (p.Met1842=) c.5471T= (p.Met1824=) c.5363T= (p.Met1788=) c.5426T= (p.Met1809=) c.5396T= (p.Met1799=) c.5468T= (p.Met1823=) | |
| 3 | g.38550847A>C | CA352140926 | SCN5A | c.5522T>G (p.Met1841Arg) c.5525T>G (p.Met1842Arg) c.5471T>G (p.Met1824Arg) c.5363T>G (p.Met1788Arg) c.5426T>G (p.Met1809Arg) c.5396T>G (p.Met1799Arg) c.5468T>G (p.Met1823Arg) | |
| 3 | g.38550847A>G | CA064505 | SCN5A | c.5522T>C (p.Met1841Thr) c.5525T>C (p.Met1842Thr) c.5471T>C (p.Met1824Thr) c.5363T>C (p.Met1788Thr) c.5426T>C (p.Met1809Thr) c.5396T>C (p.Met1799Thr) c.5468T>C (p.Met1823Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38550847A>T | CA352140927 | SCN5A | c.5522T>A (p.Met1841Lys) c.5525T>A (p.Met1842Lys) c.5471T>A (p.Met1824Lys) c.5363T>A (p.Met1788Lys) c.5426T>A (p.Met1809Lys) c.5396T>A (p.Met1799Lys) c.5468T>A (p.Met1823Lys) | |
| 3 | g.38550848T>A | CA064500 | SCN5A | c.5521A>T (p.Met1841Leu) c.5524A>T (p.Met1842Leu) c.5470A>T (p.Met1824Leu) c.5362A>T (p.Met1788Leu) c.5425A>T (p.Met1809Leu) c.5395A>T (p.Met1799Leu) c.5467A>T (p.Met1823Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38550848T>C | CA064494 | SCN5A | c.5521A>G (p.Met1841Val) c.5524A>G (p.Met1842Val) c.5470A>G (p.Met1824Val) c.5362A>G (p.Met1788Val) c.5425A>G (p.Met1809Val) c.5395A>G (p.Met1799Val) c.5467A>G (p.Met1823Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38550848T>G | CA352140928 | SCN5A | c.5521A>C (p.Met1841Leu) c.5524A>C (p.Met1842Leu) c.5470A>C (p.Met1824Leu) c.5362A>C (p.Met1788Leu) c.5425A>C (p.Met1809Leu) c.5395A>C (p.Met1799Leu) c.5467A>C (p.Met1823Leu) | |
| 3 | g.38550848T= | CA1358556735 | SCN5A | c.5521A= (p.Met1841=) c.5524A= (p.Met1842=) c.5470A= (p.Met1824=) c.5362A= (p.Met1788=) c.5425A= (p.Met1809=) c.5395A= (p.Met1799=) c.5467A= (p.Met1823=) | |
| 3 | g.38550849G>A | CA433332115 | SCN5A | c.5520C>T (p.Pro1840=) c.5523C>T (p.Pro1841=) c.5469C>T (p.Pro1823=) c.5361C>T (p.Pro1787=) c.5424C>T (p.Pro1808=) c.5394C>T (p.Pro1798=) c.5466C>T (p.Pro1822=) | dbSNP gnomAD v2 |
| 3 | g.38550849G>C | CA433332116 | SCN5A | c.5520C>G (p.Pro1840=) c.5523C>G (p.Pro1841=) c.5469C>G (p.Pro1823=) c.5361C>G (p.Pro1787=) c.5424C>G (p.Pro1808=) c.5394C>G (p.Pro1798=) c.5466C>G (p.Pro1822=) | |
| 3 | g.38550849G= | CA1358556741 | SCN5A | c.5520C= (p.Pro1840=) c.5523C= (p.Pro1841=) c.5469C= (p.Pro1823=) c.5361C= (p.Pro1787=) c.5424C= (p.Pro1808=) c.5394C= (p.Pro1798=) c.5466C= (p.Pro1822=) | |
| 3 | g.38550849G>T | CA433332117 | SCN5A | c.5520C>A (p.Pro1840=) c.5523C>A (p.Pro1841=) c.5469C>A (p.Pro1823=) c.5361C>A (p.Pro1787=) c.5424C>A (p.Pro1808=) c.5394C>A (p.Pro1798=) c.5466C>A (p.Pro1822=) | |
| 3 | g.38550850G>A | CA352140930 | SCN5A | c.5519C>T (p.Pro1840Leu) c.5522C>T (p.Pro1841Leu) c.5468C>T (p.Pro1823Leu) c.5360C>T (p.Pro1787Leu) c.5423C>T (p.Pro1808Leu) c.5393C>T (p.Pro1798Leu) c.5465C>T (p.Pro1822Leu) | |
| 3 | g.38550850G>C | CA352140929 | SCN5A | c.5519C>G (p.Pro1840Arg) c.5522C>G (p.Pro1841Arg) c.5468C>G (p.Pro1823Arg) c.5360C>G (p.Pro1787Arg) c.5423C>G (p.Pro1808Arg) c.5393C>G (p.Pro1798Arg) c.5465C>G (p.Pro1822Arg) | |
| 3 | g.38550850G>T | CA352140931 | SCN5A | c.5519C>A (p.Pro1840His) c.5522C>A (p.Pro1841His) c.5468C>A (p.Pro1823His) c.5360C>A (p.Pro1787His) c.5423C>A (p.Pro1808His) c.5393C>A (p.Pro1798His) c.5465C>A (p.Pro1822His) | |
| 3 | g.38550851G>A | CA352140932 | SCN5A | c.5518C>T (p.Pro1840Ser) c.5521C>T (p.Pro1841Ser) c.5467C>T (p.Pro1823Ser) c.5359C>T (p.Pro1787Ser) c.5422C>T (p.Pro1808Ser) c.5392C>T (p.Pro1798Ser) c.5464C>T (p.Pro1822Ser) | |
| 3 | g.38550851G>C | CA352140934 | SCN5A | c.5518C>G (p.Pro1840Ala) c.5521C>G (p.Pro1841Ala) c.5467C>G (p.Pro1823Ala) c.5359C>G (p.Pro1787Ala) c.5422C>G (p.Pro1808Ala) c.5392C>G (p.Pro1798Ala) c.5464C>G (p.Pro1822Ala) | |
| 3 | g.38550851G>T | CA352140933 | SCN5A | c.5518C>A (p.Pro1840Thr) c.5521C>A (p.Pro1841Thr) c.5467C>A (p.Pro1823Thr) c.5359C>A (p.Pro1787Thr) c.5422C>A (p.Pro1808Thr) c.5392C>A (p.Pro1798Thr) c.5464C>A (p.Pro1822Thr) | |
| 3 | g.38550852C>A | CA433332124 | SCN5A | c.5517G>T (p.Leu1839=) c.5520G>T (p.Leu1840=) c.5466G>T (p.Leu1822=) c.5358G>T (p.Leu1786=) c.5421G>T (p.Leu1807=) c.5391G>T (p.Leu1797=) c.5463G>T (p.Leu1821=) | |
| 3 | g.38550852C= | CA1358556744 | SCN5A | c.5517G= (p.Leu1839=) c.5520G= (p.Leu1840=) c.5466G= (p.Leu1822=) c.5358G= (p.Leu1786=) c.5421G= (p.Leu1807=) c.5391G= (p.Leu1797=) c.5463G= (p.Leu1821=) | |
| 3 | g.38550852C>G | CA433332125 | SCN5A | c.5517G>C (p.Leu1839=) c.5520G>C (p.Leu1840=) c.5466G>C (p.Leu1822=) c.5358G>C (p.Leu1786=) c.5421G>C (p.Leu1807=) c.5391G>C (p.Leu1797=) c.5463G>C (p.Leu1821=) | gnomAD v4 |
| 3 | g.38550852C>T | CA433332126 | SCN5A | c.5517G>A (p.Leu1839=) c.5520G>A (p.Leu1840=) c.5466G>A (p.Leu1822=) c.5358G>A (p.Leu1786=) c.5421G>A (p.Leu1807=) c.5391G>A (p.Leu1797=) c.5463G>A (p.Leu1821=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38550853A>C | CA352140935 | SCN5A | c.5516T>G (p.Leu1839Arg) c.5519T>G (p.Leu1840Arg) c.5465T>G (p.Leu1822Arg) c.5357T>G (p.Leu1786Arg) c.5420T>G (p.Leu1807Arg) c.5390T>G (p.Leu1797Arg) c.5462T>G (p.Leu1821Arg) | ClinVar dbSNP |
| 3 | g.38550853A>G | CA352140937 | SCN5A | c.5516T>C (p.Leu1839Pro) c.5519T>C (p.Leu1840Pro) c.5465T>C (p.Leu1822Pro) c.5357T>C (p.Leu1786Pro) c.5420T>C (p.Leu1807Pro) c.5390T>C (p.Leu1797Pro) c.5462T>C (p.Leu1821Pro) | |
| 3 | g.38550853A>T | CA352140936 | SCN5A | c.5516T>A (p.Leu1839Gln) c.5519T>A (p.Leu1840Gln) c.5465T>A (p.Leu1822Gln) c.5357T>A (p.Leu1786Gln) c.5420T>A (p.Leu1807Gln) c.5390T>A (p.Leu1797Gln) c.5462T>A (p.Leu1821Gln) | |
| 3 | g.38550854G>A | CA433332127 | SCN5A | c.5515C>T (p.Leu1839=) c.5518C>T (p.Leu1840=) c.5464C>T (p.Leu1822=) c.5356C>T (p.Leu1786=) c.5419C>T (p.Leu1807=) c.5389C>T (p.Leu1797=) c.5461C>T (p.Leu1821=) | |
| 3 | g.38550854G>C | CA352140938 | SCN5A | c.5515C>G (p.Leu1839Val) c.5518C>G (p.Leu1840Val) c.5464C>G (p.Leu1822Val) c.5356C>G (p.Leu1786Val) c.5419C>G (p.Leu1807Val) c.5389C>G (p.Leu1797Val) c.5461C>G (p.Leu1821Val) | |
| 3 | g.38550854G>T | CA352140939 | SCN5A | c.5515C>A (p.Leu1839Met) c.5518C>A (p.Leu1840Met) c.5464C>A (p.Leu1822Met) c.5356C>A (p.Leu1786Met) c.5419C>A (p.Leu1807Met) c.5389C>A (p.Leu1797Met) c.5461C>A (p.Leu1821Met) | |
| 3 | g.38550855G>A | CA433332128 | SCN5A | c.5514C>T (p.Asp1838=) c.5517C>T (p.Asp1839=) c.5463C>T (p.Asp1821=) c.5355C>T (p.Asp1785=) c.5418C>T (p.Asp1806=) c.5388C>T (p.Asp1796=) c.5460C>T (p.Asp1820=) | gnomAD v4 |
| 3 | g.38550855G>C | CA352140940 | SCN5A | c.5514C>G (p.Asp1838Glu) c.5517C>G (p.Asp1839Glu) c.5463C>G (p.Asp1821Glu) c.5355C>G (p.Asp1785Glu) c.5418C>G (p.Asp1806Glu) c.5388C>G (p.Asp1796Glu) c.5460C>G (p.Asp1820Glu) | |
| 3 | g.38550855G>T | CA352140941 | SCN5A | c.5514C>A (p.Asp1838Glu) c.5517C>A (p.Asp1839Glu) c.5463C>A (p.Asp1821Glu) c.5355C>A (p.Asp1785Glu) c.5418C>A (p.Asp1806Glu) c.5388C>A (p.Asp1796Glu) c.5460C>A (p.Asp1820Glu) | |
| 3 | g.38550856T>A | CA352140942 | SCN5A | c.5513A>T (p.Asp1838Val) c.5516A>T (p.Asp1839Val) c.5462A>T (p.Asp1821Val) c.5354A>T (p.Asp1785Val) c.5417A>T (p.Asp1806Val) c.5387A>T (p.Asp1796Val) c.5459A>T (p.Asp1820Val) | |
| 3 | g.38550856T>C | CA019309 | SCN5A | c.5513A>G (p.Asp1838Gly) c.5516A>G (p.Asp1839Gly) c.5462A>G (p.Asp1821Gly) c.5354A>G (p.Asp1785Gly) c.5417A>G (p.Asp1806Gly) c.5387A>G (p.Asp1796Gly) c.5459A>G (p.Asp1820Gly) | ClinVar dbSNP |
| 3 | g.38550856T>G | CA352140943 | SCN5A | c.5513A>C (p.Asp1838Ala) c.5516A>C (p.Asp1839Ala) c.5462A>C (p.Asp1821Ala) c.5354A>C (p.Asp1785Ala) c.5417A>C (p.Asp1806Ala) c.5387A>C (p.Asp1796Ala) c.5459A>C (p.Asp1820Ala) | gnomAD v4 |
| 3 | g.38550856T= | CA1358556749 | SCN5A | c.5513A= (p.Asp1838=) c.5516A= (p.Asp1839=) c.5462A= (p.Asp1821=) c.5354A= (p.Asp1785=) c.5417A= (p.Asp1806=) c.5387A= (p.Asp1796=) c.5459A= (p.Asp1820=) | |
| 3 | g.38550857C>A | CA352140944 | SCN5A | c.5512G>T (p.Asp1838Tyr) c.5515G>T (p.Asp1839Tyr) c.5461G>T (p.Asp1821Tyr) c.5353G>T (p.Asp1785Tyr) c.5416G>T (p.Asp1806Tyr) c.5386G>T (p.Asp1796Tyr) c.5458G>T (p.Asp1820Tyr) | |
| 3 | g.38550857C= | CA1358556753 | SCN5A | c.5512G= (p.Asp1838=) c.5515G= (p.Asp1839=) c.5461G= (p.Asp1821=) c.5353G= (p.Asp1785=) c.5416G= (p.Asp1806=) c.5386G= (p.Asp1796=) c.5458G= (p.Asp1820=) | |
| 3 | g.38550857C>G | CA352140945 | SCN5A | c.5512G>C (p.Asp1838His) c.5515G>C (p.Asp1839His) c.5461G>C (p.Asp1821His) c.5353G>C (p.Asp1785His) c.5416G>C (p.Asp1806His) c.5386G>C (p.Asp1796His) c.5458G>C (p.Asp1820His) |