Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.38550898A= | CA1358556858 | SCN5A | c.5471T= (p.Leu1824=) c.5474T= (p.Leu1825=) c.5420T= (p.Leu1807=) c.5312T= (p.Leu1771=) c.5375T= (p.Leu1792=) c.5345T= (p.Leu1782=) c.5417T= (p.Leu1806=) | |
3 | g.38550898A>C | CA352141034 | SCN5A | c.5471T>G (p.Leu1824Arg) c.5474T>G (p.Leu1825Arg) c.5420T>G (p.Leu1807Arg) c.5312T>G (p.Leu1771Arg) c.5375T>G (p.Leu1792Arg) c.5345T>G (p.Leu1782Arg) c.5417T>G (p.Leu1806Arg) | |
3 | g.38550898A>G | CA019266 | SCN5A | c.5471T>C (p.Leu1824Pro) c.5474T>C (p.Leu1825Pro) c.5420T>C (p.Leu1807Pro) c.5312T>C (p.Leu1771Pro) c.5375T>C (p.Leu1792Pro) c.5345T>C (p.Leu1782Pro) c.5417T>C (p.Leu1806Pro) | ClinVar dbSNP |
3 | g.38550898A>T | CA352141035 | SCN5A | c.5471T>A (p.Leu1824His) c.5474T>A (p.Leu1825His) c.5420T>A (p.Leu1807His) c.5312T>A (p.Leu1771His) c.5375T>A (p.Leu1792His) c.5345T>A (p.Leu1782His) c.5417T>A (p.Leu1806His) | |
3 | g.38550899G>A | CA352141036 | SCN5A | c.5470C>T (p.Leu1824Phe) c.5473C>T (p.Leu1825Phe) c.5419C>T (p.Leu1807Phe) c.5311C>T (p.Leu1771Phe) c.5374C>T (p.Leu1792Phe) c.5344C>T (p.Leu1782Phe) c.5416C>T (p.Leu1806Phe) | |
3 | g.38550899G>C | CA352141037 | SCN5A | c.5470C>G (p.Leu1824Val) c.5473C>G (p.Leu1825Val) c.5419C>G (p.Leu1807Val) c.5311C>G (p.Leu1771Val) c.5374C>G (p.Leu1792Val) c.5344C>G (p.Leu1782Val) c.5416C>G (p.Leu1806Val) | |
3 | g.38550899G>T | CA352141038 | SCN5A | c.5470C>A (p.Leu1824Ile) c.5473C>A (p.Leu1825Ile) c.5419C>A (p.Leu1807Ile) c.5311C>A (p.Leu1771Ile) c.5374C>A (p.Leu1792Ile) c.5344C>A (p.Leu1782Ile) c.5416C>A (p.Leu1806Ile) | |
3 | g.38550900T>A | CA433332241 | SCN5A | c.5469A>T (p.Pro1823=) c.5472A>T (p.Pro1824=) c.5418A>T (p.Pro1806=) c.5310A>T (p.Pro1770=) c.5373A>T (p.Pro1791=) c.5343A>T (p.Pro1781=) c.5415A>T (p.Pro1805=) | |
3 | g.38550900T>C | CA433332254 | SCN5A | c.5469A>G (p.Pro1823=) c.5472A>G (p.Pro1824=) c.5418A>G (p.Pro1806=) c.5310A>G (p.Pro1770=) c.5373A>G (p.Pro1791=) c.5343A>G (p.Pro1781=) c.5415A>G (p.Pro1805=) | ClinVar |
3 | g.38550900T>G | CA433332255 | SCN5A | c.5469A>C (p.Pro1823=) c.5472A>C (p.Pro1824=) c.5418A>C (p.Pro1806=) c.5310A>C (p.Pro1770=) c.5373A>C (p.Pro1791=) c.5343A>C (p.Pro1781=) c.5415A>C (p.Pro1805=) | dbSNP |
3 | g.38550900T= | CA1358556861 | SCN5A | c.5469A= (p.Pro1823=) c.5472A= (p.Pro1824=) c.5418A= (p.Pro1806=) c.5310A= (p.Pro1770=) c.5373A= (p.Pro1791=) c.5343A= (p.Pro1781=) c.5415A= (p.Pro1805=) | |
3 | g.38550901G>A | CA352141039 | SCN5A | c.5468C>T (p.Pro1823Leu) c.5471C>T (p.Pro1824Leu) c.5417C>T (p.Pro1806Leu) c.5309C>T (p.Pro1770Leu) c.5372C>T (p.Pro1791Leu) c.5342C>T (p.Pro1781Leu) c.5414C>T (p.Pro1805Leu) | ClinVar dbSNP |
3 | g.38550901G>C | CA352141040 | SCN5A | c.5468C>G (p.Pro1823Arg) c.5471C>G (p.Pro1824Arg) c.5417C>G (p.Pro1806Arg) c.5309C>G (p.Pro1770Arg) c.5372C>G (p.Pro1791Arg) c.5342C>G (p.Pro1781Arg) c.5414C>G (p.Pro1805Arg) | |
3 | g.38550901G= | CA1358556864 | SCN5A | c.5468C= (p.Pro1823=) c.5471C= (p.Pro1824=) c.5417C= (p.Pro1806=) c.5309C= (p.Pro1770=) c.5372C= (p.Pro1791=) c.5342C= (p.Pro1781=) c.5414C= (p.Pro1805=) | |
3 | g.38550901G>T | CA352141041 | SCN5A | c.5468C>A (p.Pro1823Gln) c.5471C>A (p.Pro1824Gln) c.5417C>A (p.Pro1806Gln) c.5309C>A (p.Pro1770Gln) c.5372C>A (p.Pro1791Gln) c.5342C>A (p.Pro1781Gln) c.5414C>A (p.Pro1805Gln) | |
3 | g.38550902G>A | CA352141042 | SCN5A | c.5467C>T (p.Pro1823Ser) c.5470C>T (p.Pro1824Ser) c.5416C>T (p.Pro1806Ser) c.5308C>T (p.Pro1770Ser) c.5371C>T (p.Pro1791Ser) c.5341C>T (p.Pro1781Ser) c.5413C>T (p.Pro1805Ser) | |
3 | g.38550902G>C | CA019262 | SCN5A | c.5467C>G (p.Pro1823Ala) c.5470C>G (p.Pro1824Ala) c.5416C>G (p.Pro1806Ala) c.5308C>G (p.Pro1770Ala) c.5371C>G (p.Pro1791Ala) c.5341C>G (p.Pro1781Ala) c.5413C>G (p.Pro1805Ala) | ClinVar dbSNP gnomAD v4 |
3 | g.38550902G= | CA1358556867 | SCN5A | c.5467C= (p.Pro1823=) c.5470C= (p.Pro1824=) c.5416C= (p.Pro1806=) c.5308C= (p.Pro1770=) c.5371C= (p.Pro1791=) c.5341C= (p.Pro1781=) c.5413C= (p.Pro1805=) | |
3 | g.38550902G>T | CA352141043 | SCN5A | c.5467C>A (p.Pro1823Thr) c.5470C>A (p.Pro1824Thr) c.5416C>A (p.Pro1806Thr) c.5308C>A (p.Pro1770Thr) c.5371C>A (p.Pro1791Thr) c.5341C>A (p.Pro1781Thr) c.5413C>A (p.Pro1805Thr) | gnomAD v4 |
3 | g.38550903C>A | CA352141045 | SCN5A | c.5466G>T (p.Glu1822Asp) c.5469G>T (p.Glu1823Asp) c.5415G>T (p.Glu1805Asp) c.5307G>T (p.Glu1769Asp) c.5370G>T (p.Glu1790Asp) c.5340G>T (p.Glu1780Asp) c.5412G>T (p.Glu1804Asp) | |
3 | g.38550903C>G | CA352141044 | SCN5A | c.5466G>C (p.Glu1822Asp) c.5469G>C (p.Glu1823Asp) c.5415G>C (p.Glu1805Asp) c.5307G>C (p.Glu1769Asp) c.5370G>C (p.Glu1790Asp) c.5340G>C (p.Glu1780Asp) c.5412G>C (p.Glu1804Asp) | |
3 | g.38550903C>T | CA433332264 | SCN5A | c.5466G>A (p.Glu1822=) c.5469G>A (p.Glu1823=) c.5415G>A (p.Glu1805=) c.5307G>A (p.Glu1769=) c.5370G>A (p.Glu1790=) c.5340G>A (p.Glu1780=) c.5412G>A (p.Glu1804=) | |
3 | g.38550904T>A | CA352141046 | SCN5A | c.5465A>T (p.Glu1822Val) c.5468A>T (p.Glu1823Val) c.5414A>T (p.Glu1805Val) c.5306A>T (p.Glu1769Val) c.5369A>T (p.Glu1790Val) c.5339A>T (p.Glu1780Val) c.5411A>T (p.Glu1804Val) | |
3 | g.38550904T>C | CA352141048 | SCN5A | c.5465A>G (p.Glu1822Gly) c.5468A>G (p.Glu1823Gly) c.5414A>G (p.Glu1805Gly) c.5306A>G (p.Glu1769Gly) c.5369A>G (p.Glu1790Gly) c.5339A>G (p.Glu1780Gly) c.5411A>G (p.Glu1804Gly) | |
3 | g.38550904T>G | CA352141047 | SCN5A | c.5465A>C (p.Glu1822Ala) c.5468A>C (p.Glu1823Ala) c.5414A>C (p.Glu1805Ala) c.5306A>C (p.Glu1769Ala) c.5369A>C (p.Glu1790Ala) c.5339A>C (p.Glu1780Ala) c.5411A>C (p.Glu1804Ala) | |
3 | g.38550904_38550908delinsTCAGA | CA1358556870 | SCN5A | c.5461_5465delinsTCTGA (p.Ser1821=) c.5464_5468delinsTCTGA (p.Ser1822=) c.5410_5414delinsTCTGA (p.Ser1804=) c.5302_5306delinsTCTGA (p.Ser1768=) c.5365_5369delinsTCTGA (p.Ser1789=) c.5335_5339delinsTCTGA (p.Ser1779=) c.5407_5411delinsTCTGA (p.Ser1803=) | |
3 | g.38550905C>A | CA352141049 | SCN5A | c.5464G>T (p.Glu1822Ter) c.5467G>T (p.Glu1823Ter) c.5413G>T (p.Glu1805Ter) c.5305G>T (p.Glu1769Ter) c.5368G>T (p.Glu1790Ter) c.5338G>T (p.Glu1780Ter) c.5410G>T (p.Glu1804Ter) | |
3 | g.38550905C= | CA1358556876 | SCN5A | c.5464G= (p.Glu1822=) c.5467G= (p.Glu1823=) c.5413G= (p.Glu1805=) c.5305G= (p.Glu1769=) c.5368G= (p.Glu1790=) c.5338G= (p.Glu1780=) c.5410G= (p.Glu1804=) | |
3 | g.38550905C>G | CA352141050 | SCN5A | c.5464G>C (p.Glu1822Gln) c.5467G>C (p.Glu1823Gln) c.5413G>C (p.Glu1805Gln) c.5305G>C (p.Glu1769Gln) c.5368G>C (p.Glu1790Gln) c.5338G>C (p.Glu1780Gln) c.5410G>C (p.Glu1804Gln) | gnomAD v4 |
3 | g.38550905C>T | CA064452 | SCN5A | c.5464G>A (p.Glu1822Lys) c.5467G>A (p.Glu1823Lys) c.5413G>A (p.Glu1805Lys) c.5305G>A (p.Glu1769Lys) c.5368G>A (p.Glu1790Lys) c.5338G>A (p.Glu1780Lys) c.5410G>A (p.Glu1804Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38550908_38550911del | CA019255 | SCN5A | c.5461_5464del (p.Glu1822HisfsTer10) c.5464_5467del (p.Glu1823HisfsTer10) c.5410_5413del (p.Glu1805HisfsTer10) c.5302_5305del (p.Glu1769HisfsTer10) c.5365_5368del (p.Glu1790HisfsTer10) c.5335_5338del (p.Glu1780HisfsTer10) c.5407_5410del (p.Glu1804HisfsTer10) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.38550906A>C | CA433332269 | SCN5A | c.5463T>G (p.Ser1821=) c.5466T>G (p.Ser1822=) c.5412T>G (p.Ser1804=) c.5304T>G (p.Ser1768=) c.5367T>G (p.Ser1789=) c.5337T>G (p.Ser1779=) c.5409T>G (p.Ser1803=) | |
3 | g.38550906A>G | CA433332270 | SCN5A | c.5463T>C (p.Ser1821=) c.5466T>C (p.Ser1822=) c.5412T>C (p.Ser1804=) c.5304T>C (p.Ser1768=) c.5367T>C (p.Ser1789=) c.5337T>C (p.Ser1779=) c.5409T>C (p.Ser1803=) | |
3 | g.38550906A>T | CA433332272 | SCN5A | c.5463T>A (p.Ser1821=) c.5466T>A (p.Ser1822=) c.5412T>A (p.Ser1804=) c.5304T>A (p.Ser1768=) c.5367T>A (p.Ser1789=) c.5337T>A (p.Ser1779=) c.5409T>A (p.Ser1803=) | |
3 | g.38550907G>A | CA352141051 | SCN5A | c.5462C>T (p.Ser1821Phe) c.5465C>T (p.Ser1822Phe) c.5411C>T (p.Ser1804Phe) c.5303C>T (p.Ser1768Phe) c.5366C>T (p.Ser1789Phe) c.5336C>T (p.Ser1779Phe) c.5408C>T (p.Ser1803Phe) | |
3 | g.38550907G>C | CA352141052 | SCN5A | c.5462C>G (p.Ser1821Cys) c.5465C>G (p.Ser1822Cys) c.5411C>G (p.Ser1804Cys) c.5303C>G (p.Ser1768Cys) c.5366C>G (p.Ser1789Cys) c.5336C>G (p.Ser1779Cys) c.5408C>G (p.Ser1803Cys) | |
3 | g.38550907G>T | CA352141053 | SCN5A | c.5462C>A (p.Ser1821Tyr) c.5465C>A (p.Ser1822Tyr) c.5411C>A (p.Ser1804Tyr) c.5303C>A (p.Ser1768Tyr) c.5366C>A (p.Ser1789Tyr) c.5336C>A (p.Ser1779Tyr) c.5408C>A (p.Ser1803Tyr) | |
3 | g.38550908A>C | CA352141054 | SCN5A | c.5461T>G (p.Ser1821Ala) c.5464T>G (p.Ser1822Ala) c.5410T>G (p.Ser1804Ala) c.5302T>G (p.Ser1768Ala) c.5365T>G (p.Ser1789Ala) c.5335T>G (p.Ser1779Ala) c.5407T>G (p.Ser1803Ala) | |
3 | g.38550908A>G | CA352141055 | SCN5A | c.5461T>C (p.Ser1821Pro) c.5464T>C (p.Ser1822Pro) c.5410T>C (p.Ser1804Pro) c.5302T>C (p.Ser1768Pro) c.5365T>C (p.Ser1789Pro) c.5335T>C (p.Ser1779Pro) c.5407T>C (p.Ser1803Pro) | |
3 | g.38550908A>T | CA352141056 | SCN5A | c.5461T>A (p.Ser1821Thr) c.5464T>A (p.Ser1822Thr) c.5410T>A (p.Ser1804Thr) c.5302T>A (p.Ser1768Thr) c.5365T>A (p.Ser1789Thr) c.5335T>A (p.Ser1779Thr) c.5407T>A (p.Ser1803Thr) | ClinVar gnomAD v4 |
3 | g.38550909C>A | CA433332273 | SCN5A | c.5460G>T (p.Leu1820=) c.5463G>T (p.Leu1821=) c.5409G>T (p.Leu1803=) c.5301G>T (p.Leu1767=) c.5364G>T (p.Leu1788=) c.5334G>T (p.Leu1778=) c.5406G>T (p.Leu1802=) | |
3 | g.38550909C>G | CA433332275 | SCN5A | c.5460G>C (p.Leu1820=) c.5463G>C (p.Leu1821=) c.5409G>C (p.Leu1803=) c.5301G>C (p.Leu1767=) c.5364G>C (p.Leu1788=) c.5334G>C (p.Leu1778=) c.5406G>C (p.Leu1802=) | ClinVar |
3 | g.38550909C>T | CA433332276 | SCN5A | c.5460G>A (p.Leu1820=) c.5463G>A (p.Leu1821=) c.5409G>A (p.Leu1803=) c.5301G>A (p.Leu1767=) c.5364G>A (p.Leu1788=) c.5334G>A (p.Leu1778=) c.5406G>A (p.Leu1802=) | ClinVar dbSNP gnomAD v4 |
3 | g.38550909_38550911delinsCAG | CA1358556880 | SCN5A | c.5458_5460delinsCTG (p.Leu1820=) c.5461_5463delinsCTG (p.Leu1821=) c.5407_5409delinsCTG (p.Leu1803=) c.5299_5301delinsCTG (p.Leu1767=) c.5362_5364delinsCTG (p.Leu1788=) c.5332_5334delinsCTG (p.Leu1778=) c.5404_5406delinsCTG (p.Leu1802=) | |
3 | g.38550910A>C | CA352141057 | SCN5A | c.5459T>G (p.Leu1820Arg) c.5462T>G (p.Leu1821Arg) c.5408T>G (p.Leu1803Arg) c.5300T>G (p.Leu1767Arg) c.5363T>G (p.Leu1788Arg) c.5333T>G (p.Leu1778Arg) c.5405T>G (p.Leu1802Arg) | |
3 | g.38550910A>G | CA352141058 | SCN5A | c.5459T>C (p.Leu1820Pro) c.5462T>C (p.Leu1821Pro) c.5408T>C (p.Leu1803Pro) c.5300T>C (p.Leu1767Pro) c.5363T>C (p.Leu1788Pro) c.5333T>C (p.Leu1778Pro) c.5405T>C (p.Leu1802Pro) | |
3 | g.38550910A>T | CA352141059 | SCN5A | c.5459T>A (p.Leu1820Gln) c.5462T>A (p.Leu1821Gln) c.5408T>A (p.Leu1803Gln) c.5300T>A (p.Leu1767Gln) c.5363T>A (p.Leu1788Gln) c.5333T>A (p.Leu1778Gln) c.5405T>A (p.Leu1802Gln) | |
3 | g.38550910_38550911del | CA658655809 | SCN5A | c.5458_5459del (p.Leu1820ValfsTer2) c.5461_5462del (p.Leu1821ValfsTer2) c.5407_5408del (p.Leu1803ValfsTer2) c.5299_5300del (p.Leu1767ValfsTer2) c.5362_5363del (p.Leu1788ValfsTer2) c.5332_5333del (p.Leu1778ValfsTer2) c.5404_5405del (p.Leu1802ValfsTer2) | ClinVar dbSNP |
3 | g.38550911G>A | CA433332280 | SCN5A | c.5458C>T (p.Leu1820=) c.5461C>T (p.Leu1821=) c.5407C>T (p.Leu1803=) c.5299C>T (p.Leu1767=) c.5362C>T (p.Leu1788=) c.5332C>T (p.Leu1778=) c.5404C>T (p.Leu1802=) | |
3 | g.38550911G>C | CA352141060 | SCN5A | c.5458C>G (p.Leu1820Val) c.5461C>G (p.Leu1821Val) c.5407C>G (p.Leu1803Val) c.5299C>G (p.Leu1767Val) c.5362C>G (p.Leu1788Val) c.5332C>G (p.Leu1778Val) c.5404C>G (p.Leu1802Val) |