| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.38550797dup | CA2586965748 | SCN5A | c.5575dup (p.Arg1859LysfsTer?) c.5578dup (p.Arg1860LysfsTer?) c.5524dup (p.Arg1842LysfsTer?) c.5416dup (p.Arg1806LysfsTer?) c.5479dup (p.Arg1827LysfsTer?) c.5449dup (p.Arg1817LysfsTer?) c.5521dup (p.Arg1841LysfsTer?) | |
| 3 | g.38550797del | CA2569804792 | SCN5A | c.5575del (p.Arg1859GlyfsTer12) c.5578del (p.Arg1860GlyfsTer12) c.5524del (p.Arg1842GlyfsTer12) c.5416del (p.Arg1806GlyfsTer12) c.5479del (p.Arg1827GlyfsTer12) c.5449del (p.Arg1817GlyfsTer12) c.5521del (p.Arg1841GlyfsTer12) | |
| 3 | g.38550795T>A | CA352140775 | SCN5A | c.5574A>T (p.Lys1858Asn) c.5577A>T (p.Lys1859Asn) c.5523A>T (p.Lys1841Asn) c.5415A>T (p.Lys1805Asn) c.5478A>T (p.Lys1826Asn) c.5448A>T (p.Lys1816Asn) c.5520A>T (p.Lys1840Asn) | |
| 3 | g.38550795T>C | CA433332042 | SCN5A | c.5574A>G (p.Lys1858=) c.5577A>G (p.Lys1859=) c.5523A>G (p.Lys1841=) c.5415A>G (p.Lys1805=) c.5478A>G (p.Lys1826=) c.5448A>G (p.Lys1816=) c.5520A>G (p.Lys1840=) | |
| 3 | g.38550795T>G | CA352140777 | SCN5A | c.5574A>C (p.Lys1858Asn) c.5577A>C (p.Lys1859Asn) c.5523A>C (p.Lys1841Asn) c.5415A>C (p.Lys1805Asn) c.5478A>C (p.Lys1826Asn) c.5448A>C (p.Lys1816Asn) c.5520A>C (p.Lys1840Asn) | |
| 3 | g.38550796T>A | CA352140780 | SCN5A | c.5573A>T (p.Lys1858Ile) c.5576A>T (p.Lys1859Ile) c.5522A>T (p.Lys1841Ile) c.5414A>T (p.Lys1805Ile) c.5477A>T (p.Lys1826Ile) c.5447A>T (p.Lys1816Ile) c.5519A>T (p.Lys1840Ile) | |
| 3 | g.38550796T>C | CA352140781 | SCN5A | c.5573A>G (p.Lys1858Arg) c.5576A>G (p.Lys1859Arg) c.5522A>G (p.Lys1841Arg) c.5414A>G (p.Lys1805Arg) c.5477A>G (p.Lys1826Arg) c.5447A>G (p.Lys1816Arg) c.5519A>G (p.Lys1840Arg) | ClinVar dbSNP |
| 3 | g.38550796T>G | CA352140783 | SCN5A | c.5573A>C (p.Lys1858Thr) c.5576A>C (p.Lys1859Thr) c.5522A>C (p.Lys1841Thr) c.5414A>C (p.Lys1805Thr) c.5477A>C (p.Lys1826Thr) c.5447A>C (p.Lys1816Thr) c.5519A>C (p.Lys1840Thr) | |
| 3 | g.38550796T= | CA1358556635 | SCN5A | c.5573A= (p.Lys1858=) c.5576A= (p.Lys1859=) c.5522A= (p.Lys1841=) c.5414A= (p.Lys1805=) c.5477A= (p.Lys1826=) c.5447A= (p.Lys1816=) c.5519A= (p.Lys1840=) | |
| 3 | g.38550797T>A | CA352140787 | SCN5A | c.5572A>T (p.Lys1858Ter) c.5575A>T (p.Lys1859Ter) c.5521A>T (p.Lys1841Ter) c.5413A>T (p.Lys1805Ter) c.5476A>T (p.Lys1826Ter) c.5446A>T (p.Lys1816Ter) c.5518A>T (p.Lys1840Ter) | |
| 3 | g.38550797T>C | CA352140788 | SCN5A | c.5572A>G (p.Lys1858Glu) c.5575A>G (p.Lys1859Glu) c.5521A>G (p.Lys1841Glu) c.5413A>G (p.Lys1805Glu) c.5476A>G (p.Lys1826Glu) c.5446A>G (p.Lys1816Glu) c.5518A>G (p.Lys1840Glu) | ClinVar dbSNP |
| 3 | g.38550797T>G | CA352140785 | SCN5A | c.5572A>C (p.Lys1858Gln) c.5575A>C (p.Lys1859Gln) c.5521A>C (p.Lys1841Gln) c.5413A>C (p.Lys1805Gln) c.5476A>C (p.Lys1826Gln) c.5446A>C (p.Lys1816Gln) c.5518A>C (p.Lys1840Gln) | |
| 3 | g.38550798G>A | CA433332043 | SCN5A | c.5571C>T (p.Thr1857=) c.5574C>T (p.Thr1858=) c.5520C>T (p.Thr1840=) c.5412C>T (p.Thr1804=) c.5475C>T (p.Thr1825=) c.5445C>T (p.Thr1815=) c.5517C>T (p.Thr1839=) | |
| 3 | g.38550798G>C | CA433332044 | SCN5A | c.5571C>G (p.Thr1857=) c.5574C>G (p.Thr1858=) c.5520C>G (p.Thr1840=) c.5412C>G (p.Thr1804=) c.5475C>G (p.Thr1825=) c.5445C>G (p.Thr1815=) c.5517C>G (p.Thr1839=) | |
| 3 | g.38550798G>T | CA433332045 | SCN5A | c.5571C>A (p.Thr1857=) c.5574C>A (p.Thr1858=) c.5520C>A (p.Thr1840=) c.5412C>A (p.Thr1804=) c.5475C>A (p.Thr1825=) c.5445C>A (p.Thr1815=) c.5517C>A (p.Thr1839=) | |
| 3 | g.38550799G>A | CA352140791 | SCN5A | c.5570C>T (p.Thr1857Ile) c.5573C>T (p.Thr1858Ile) c.5519C>T (p.Thr1840Ile) c.5411C>T (p.Thr1804Ile) c.5474C>T (p.Thr1825Ile) c.5444C>T (p.Thr1815Ile) c.5516C>T (p.Thr1839Ile) | |
| 3 | g.38550799G>C | CA352140795 | SCN5A | c.5570C>G (p.Thr1857Ser) c.5573C>G (p.Thr1858Ser) c.5519C>G (p.Thr1840Ser) c.5411C>G (p.Thr1804Ser) c.5474C>G (p.Thr1825Ser) c.5444C>G (p.Thr1815Ser) c.5516C>G (p.Thr1839Ser) | |
| 3 | g.38550799G>T | CA352140792 | SCN5A | c.5570C>A (p.Thr1857Asn) c.5573C>A (p.Thr1858Asn) c.5519C>A (p.Thr1840Asn) c.5411C>A (p.Thr1804Asn) c.5474C>A (p.Thr1825Asn) c.5444C>A (p.Thr1815Asn) c.5516C>A (p.Thr1839Asn) | COSMIC COSMIC COSMIC |
| 3 | g.38550800T>A | CA352140797 | SCN5A | c.5569A>T (p.Thr1857Ser) c.5572A>T (p.Thr1858Ser) c.5518A>T (p.Thr1840Ser) c.5410A>T (p.Thr1804Ser) c.5473A>T (p.Thr1825Ser) c.5443A>T (p.Thr1815Ser) c.5515A>T (p.Thr1839Ser) | |
| 3 | g.38550800T>C | CA352140799 | SCN5A | c.5569A>G (p.Thr1857Ala) c.5572A>G (p.Thr1858Ala) c.5518A>G (p.Thr1840Ala) c.5410A>G (p.Thr1804Ala) c.5473A>G (p.Thr1825Ala) c.5443A>G (p.Thr1815Ala) c.5515A>G (p.Thr1839Ala) | COSMIC COSMIC COSMIC |
| 3 | g.38550800T>G | CA352140801 | SCN5A | c.5569A>C (p.Thr1857Pro) c.5572A>C (p.Thr1858Pro) c.5518A>C (p.Thr1840Pro) c.5410A>C (p.Thr1804Pro) c.5473A>C (p.Thr1825Pro) c.5443A>C (p.Thr1815Pro) c.5515A>C (p.Thr1839Pro) | |
| 3 | g.38550801G>A | CA433332047 | SCN5A | c.5568C>T (p.Phe1856=) c.5571C>T (p.Phe1857=) c.5517C>T (p.Phe1839=) c.5409C>T (p.Phe1803=) c.5472C>T (p.Phe1824=) c.5442C>T (p.Phe1814=) c.5514C>T (p.Phe1838=) | |
| 3 | g.38550801G>C | CA352140803 | SCN5A | c.5568C>G (p.Phe1856Leu) c.5571C>G (p.Phe1857Leu) c.5517C>G (p.Phe1839Leu) c.5409C>G (p.Phe1803Leu) c.5472C>G (p.Phe1824Leu) c.5442C>G (p.Phe1814Leu) c.5514C>G (p.Phe1838Leu) | |
| 3 | g.38550801G>T | CA352140804 | SCN5A | c.5568C>A (p.Phe1856Leu) c.5571C>A (p.Phe1857Leu) c.5517C>A (p.Phe1839Leu) c.5409C>A (p.Phe1803Leu) c.5472C>A (p.Phe1824Leu) c.5442C>A (p.Phe1814Leu) c.5514C>A (p.Phe1838Leu) | |
| 3 | g.38550802A>C | CA352140807 | SCN5A | c.5567T>G (p.Phe1856Cys) c.5570T>G (p.Phe1857Cys) c.5516T>G (p.Phe1839Cys) c.5408T>G (p.Phe1803Cys) c.5471T>G (p.Phe1824Cys) c.5441T>G (p.Phe1814Cys) c.5513T>G (p.Phe1838Cys) | gnomAD v4 |
| 3 | g.38550802A>G | CA352140808 | SCN5A | c.5567T>C (p.Phe1856Ser) c.5570T>C (p.Phe1857Ser) c.5516T>C (p.Phe1839Ser) c.5408T>C (p.Phe1803Ser) c.5471T>C (p.Phe1824Ser) c.5441T>C (p.Phe1814Ser) c.5513T>C (p.Phe1838Ser) | |
| 3 | g.38550802A>T | CA352140810 | SCN5A | c.5567T>A (p.Phe1856Tyr) c.5570T>A (p.Phe1857Tyr) c.5516T>A (p.Phe1839Tyr) c.5408T>A (p.Phe1803Tyr) c.5471T>A (p.Phe1824Tyr) c.5441T>A (p.Phe1814Tyr) c.5513T>A (p.Phe1838Tyr) | |
| 3 | g.38550803A>C | CA352140812 | SCN5A | c.5566T>G (p.Phe1856Val) c.5569T>G (p.Phe1857Val) c.5515T>G (p.Phe1839Val) c.5407T>G (p.Phe1803Val) c.5470T>G (p.Phe1824Val) c.5440T>G (p.Phe1814Val) c.5512T>G (p.Phe1838Val) | |
| 3 | g.38550803A>G | CA352140814 | SCN5A | c.5566T>C (p.Phe1856Leu) c.5569T>C (p.Phe1857Leu) c.5515T>C (p.Phe1839Leu) c.5407T>C (p.Phe1803Leu) c.5470T>C (p.Phe1824Leu) c.5440T>C (p.Phe1814Leu) c.5512T>C (p.Phe1838Leu) | |
| 3 | g.38550803A>T | CA352140815 | SCN5A | c.5566T>A (p.Phe1856Ile) c.5569T>A (p.Phe1857Ile) c.5515T>A (p.Phe1839Ile) c.5407T>A (p.Phe1803Ile) c.5470T>A (p.Phe1824Ile) c.5440T>A (p.Phe1814Ile) c.5512T>A (p.Phe1838Ile) | |
| 3 | g.38550804G>A | CA433332051 | SCN5A | c.5565C>T (p.Ala1855=) c.5568C>T (p.Ala1856=) c.5514C>T (p.Ala1838=) c.5406C>T (p.Ala1802=) c.5469C>T (p.Ala1823=) c.5439C>T (p.Ala1813=) c.5511C>T (p.Ala1837=) | |
| 3 | g.38550804G>C | CA433332052 | SCN5A | c.5565C>G (p.Ala1855=) c.5568C>G (p.Ala1856=) c.5514C>G (p.Ala1838=) c.5406C>G (p.Ala1802=) c.5469C>G (p.Ala1823=) c.5439C>G (p.Ala1813=) c.5511C>G (p.Ala1837=) | |
| 3 | g.38550804G>T | CA433332053 | SCN5A | c.5565C>A (p.Ala1855=) c.5568C>A (p.Ala1856=) c.5514C>A (p.Ala1838=) c.5406C>A (p.Ala1802=) c.5469C>A (p.Ala1823=) c.5439C>A (p.Ala1813=) c.5511C>A (p.Ala1837=) | |
| 3 | g.38550805G>A | CA352140821 | SCN5A | c.5564C>T (p.Ala1855Val) c.5567C>T (p.Ala1856Val) c.5513C>T (p.Ala1838Val) c.5405C>T (p.Ala1802Val) c.5468C>T (p.Ala1823Val) c.5438C>T (p.Ala1813Val) c.5510C>T (p.Ala1837Val) | COSMIC COSMIC COSMIC |
| 3 | g.38550805G>C | CA352140819 | SCN5A | c.5564C>G (p.Ala1855Gly) c.5567C>G (p.Ala1856Gly) c.5513C>G (p.Ala1838Gly) c.5405C>G (p.Ala1802Gly) c.5468C>G (p.Ala1823Gly) c.5438C>G (p.Ala1813Gly) c.5510C>G (p.Ala1837Gly) | |
| 3 | g.38550805G>T | CA352140818 | SCN5A | c.5564C>A (p.Ala1855Asp) c.5567C>A (p.Ala1856Asp) c.5513C>A (p.Ala1838Asp) c.5405C>A (p.Ala1802Asp) c.5468C>A (p.Ala1823Asp) c.5438C>A (p.Ala1813Asp) c.5510C>A (p.Ala1837Asp) | |
| 3 | g.38550806C>A | CA352140822 | SCN5A | c.5563G>T (p.Ala1855Ser) c.5566G>T (p.Ala1856Ser) c.5512G>T (p.Ala1838Ser) c.5404G>T (p.Ala1802Ser) c.5467G>T (p.Ala1823Ser) c.5437G>T (p.Ala1813Ser) c.5509G>T (p.Ala1837Ser) | |
| 3 | g.38550806C>G | CA352140824 | SCN5A | c.5563G>C (p.Ala1855Pro) c.5566G>C (p.Ala1856Pro) c.5512G>C (p.Ala1838Pro) c.5404G>C (p.Ala1802Pro) c.5467G>C (p.Ala1823Pro) c.5437G>C (p.Ala1813Pro) c.5509G>C (p.Ala1837Pro) | |
| 3 | g.38550806C>T | CA352140826 | SCN5A | c.5563G>A (p.Ala1855Thr) c.5566G>A (p.Ala1856Thr) c.5512G>A (p.Ala1838Thr) c.5404G>A (p.Ala1802Thr) c.5467G>A (p.Ala1823Thr) c.5437G>A (p.Ala1813Thr) c.5509G>A (p.Ala1837Thr) | COSMIC COSMIC COSMIC |
| 3 | g.38550807A>C | CA352140828 | SCN5A | c.5562T>G (p.Phe1854Leu) c.5565T>G (p.Phe1855Leu) c.5511T>G (p.Phe1837Leu) c.5403T>G (p.Phe1801Leu) c.5466T>G (p.Phe1822Leu) c.5436T>G (p.Phe1812Leu) c.5508T>G (p.Phe1836Leu) | |
| 3 | g.38550807A>G | CA433332057 | SCN5A | c.5562T>C (p.Phe1854=) c.5565T>C (p.Phe1855=) c.5511T>C (p.Phe1837=) c.5403T>C (p.Phe1801=) c.5466T>C (p.Phe1822=) c.5436T>C (p.Phe1812=) c.5508T>C (p.Phe1836=) | |
| 3 | g.38550807A>T | CA352140830 | SCN5A | c.5562T>A (p.Phe1854Leu) c.5565T>A (p.Phe1855Leu) c.5511T>A (p.Phe1837Leu) c.5403T>A (p.Phe1801Leu) c.5466T>A (p.Phe1822Leu) c.5436T>A (p.Phe1812Leu) c.5508T>A (p.Phe1836Leu) | |
| 3 | g.38550808A>C | CA352140832 | SCN5A | c.5561T>G (p.Phe1854Cys) c.5564T>G (p.Phe1855Cys) c.5510T>G (p.Phe1837Cys) c.5402T>G (p.Phe1801Cys) c.5465T>G (p.Phe1822Cys) c.5435T>G (p.Phe1812Cys) c.5507T>G (p.Phe1836Cys) | |
| 3 | g.38550808A>G | CA352140834 | SCN5A | c.5561T>C (p.Phe1854Ser) c.5564T>C (p.Phe1855Ser) c.5510T>C (p.Phe1837Ser) c.5402T>C (p.Phe1801Ser) c.5465T>C (p.Phe1822Ser) c.5435T>C (p.Phe1812Ser) c.5507T>C (p.Phe1836Ser) | ClinVar dbSNP |
| 3 | g.38550808A>T | CA352140836 | SCN5A | c.5561T>A (p.Phe1854Tyr) c.5564T>A (p.Phe1855Tyr) c.5510T>A (p.Phe1837Tyr) c.5402T>A (p.Phe1801Tyr) c.5465T>A (p.Phe1822Tyr) c.5435T>A (p.Phe1812Tyr) c.5507T>A (p.Phe1836Tyr) | |
| 3 | g.38550809A>C | CA352140837 | SCN5A | c.5560T>G (p.Phe1854Val) c.5563T>G (p.Phe1855Val) c.5509T>G (p.Phe1837Val) c.5401T>G (p.Phe1801Val) c.5464T>G (p.Phe1822Val) c.5434T>G (p.Phe1812Val) c.5506T>G (p.Phe1836Val) | |
| 3 | g.38550809A>G | CA352140839 | SCN5A | c.5560T>C (p.Phe1854Leu) c.5563T>C (p.Phe1855Leu) c.5509T>C (p.Phe1837Leu) c.5401T>C (p.Phe1801Leu) c.5464T>C (p.Phe1822Leu) c.5434T>C (p.Phe1812Leu) c.5506T>C (p.Phe1836Leu) | |
| 3 | g.38550809A>T | CA352140840 | SCN5A | c.5560T>A (p.Phe1854Ile) c.5563T>A (p.Phe1855Ile) c.5509T>A (p.Phe1837Ile) c.5401T>A (p.Phe1801Ile) c.5464T>A (p.Phe1822Ile) c.5434T>A (p.Phe1812Ile) c.5506T>A (p.Phe1836Ile) | |
| 3 | g.38550810G>A | CA064545 | SCN5A | c.5559C>T (p.Leu1853=) c.5562C>T (p.Leu1854=) c.5508C>T (p.Leu1836=) c.5400C>T (p.Leu1800=) c.5463C>T (p.Leu1821=) c.5433C>T (p.Leu1811=) c.5505C>T (p.Leu1835=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38550810G>C | CA433332060 | SCN5A | c.5559C>G (p.Leu1853=) c.5562C>G (p.Leu1854=) c.5508C>G (p.Leu1836=) c.5400C>G (p.Leu1800=) c.5463C>G (p.Leu1821=) c.5433C>G (p.Leu1811=) c.5505C>G (p.Leu1835=) |