Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.38550798G>ACA433332043SCN5Ac.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=)
3g.38550798G>CCA433332044SCN5Ac.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=)
3g.38550798G>TCA433332045SCN5Ac.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=)
3g.38550799G>ACA352140791SCN5Ac.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)
3g.38550799G>CCA352140795SCN5Ac.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)
3g.38550799G>TCA352140792SCN5Ac.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
3g.38550800T>ACA352140797SCN5Ac.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)
3g.38550800T>CCA352140799SCN5Ac.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
3g.38550800T>GCA352140801SCN5Ac.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)
3g.38550801G>ACA433332047SCN5Ac.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=)
3g.38550801G>CCA352140803SCN5Ac.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)
3g.38550801G>TCA352140804SCN5Ac.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)
3g.38550802A>CCA352140807SCN5Ac.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
3g.38550802A>GCA352140808SCN5Ac.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)
3g.38550802A>TCA352140810SCN5Ac.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)
3g.38550803A>CCA352140812SCN5Ac.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)
3g.38550803A>GCA352140814SCN5Ac.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)
3g.38550803A>TCA352140815SCN5Ac.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)
3g.38550804G>ACA433332051SCN5Ac.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=)
3g.38550804G>CCA433332052SCN5Ac.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=)
3g.38550804G>TCA433332053SCN5Ac.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=)
3g.38550805G>ACA352140821SCN5Ac.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
3g.38550805G>CCA352140819SCN5Ac.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)
3g.38550805G>TCA352140818SCN5Ac.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)
3g.38550806C>ACA352140822SCN5Ac.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)
3g.38550806C>GCA352140824SCN5Ac.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)
 ClinVar
3g.38550806C>TCA352140826SCN5Ac.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
3g.38550807A>CCA352140828SCN5Ac.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)
3g.38550807A>GCA433332057SCN5Ac.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=)
3g.38550807A>TCA352140830SCN5Ac.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)
3g.38550808A>CCA352140832SCN5Ac.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)
3g.38550808A>GCA352140834SCN5Ac.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
3g.38550808A>TCA352140836SCN5Ac.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)
3g.38550809A>CCA352140837SCN5Ac.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)
3g.38550809A>GCA352140839SCN5Ac.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)
3g.38550809A>TCA352140840SCN5Ac.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)
3g.38550810G>ACA064545SCN5Ac.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
3g.38550810G>CCA433332060SCN5Ac.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=)
3g.38550810G=CA1358556638SCN5Ac.5559C= (p.Leu1853=)
c.5562C= (p.Leu1854=)
c.5508C= (p.Leu1836=)
c.5400C= (p.Leu1800=)
c.5463C= (p.Leu1821=)
c.5433C= (p.Leu1811=)
c.5505C= (p.Leu1835=)
3g.38550810G>TCA433332061SCN5Ac.5559C>A (p.Leu1853=)
c.5562C>A (p.Leu1854=)
c.5508C>A (p.Leu1836=)
c.5400C>A (p.Leu1800=)
c.5463C>A (p.Leu1821=)
c.5433C>A (p.Leu1811=)
c.5505C>A (p.Leu1835=)
3g.38550811A>CCA352140843SCN5Ac.5558T>G (p.Leu1853Arg)
c.5561T>G (p.Leu1854Arg)
c.5507T>G (p.Leu1836Arg)
c.5399T>G (p.Leu1800Arg)
c.5462T>G (p.Leu1821Arg)
c.5432T>G (p.Leu1811Arg)
c.5504T>G (p.Leu1835Arg)
3g.38550811A>GCA352140842SCN5Ac.5558T>C (p.Leu1853Pro)
c.5561T>C (p.Leu1854Pro)
c.5507T>C (p.Leu1836Pro)
c.5399T>C (p.Leu1800Pro)
c.5462T>C (p.Leu1821Pro)
c.5432T>C (p.Leu1811Pro)
c.5504T>C (p.Leu1835Pro)
3g.38550811A>TCA352140841SCN5Ac.5558T>A (p.Leu1853His)
c.5561T>A (p.Leu1854His)
c.5507T>A (p.Leu1836His)
c.5399T>A (p.Leu1800His)
c.5462T>A (p.Leu1821His)
c.5432T>A (p.Leu1811His)
c.5504T>A (p.Leu1835His)
3g.38550812G>ACA352140846SCN5Ac.5557C>T (p.Leu1853Phe)
c.5560C>T (p.Leu1854Phe)
c.5506C>T (p.Leu1836Phe)
c.5398C>T (p.Leu1800Phe)
c.5461C>T (p.Leu1821Phe)
c.5431C>T (p.Leu1811Phe)
c.5503C>T (p.Leu1835Phe)
3g.38550812G>CCA352140844SCN5Ac.5557C>G (p.Leu1853Val)
c.5560C>G (p.Leu1854Val)
c.5506C>G (p.Leu1836Val)
c.5398C>G (p.Leu1800Val)
c.5461C>G (p.Leu1821Val)
c.5431C>G (p.Leu1811Val)
c.5503C>G (p.Leu1835Val)
3g.38550812G>TCA352140845SCN5Ac.5557C>A (p.Leu1853Ile)
c.5560C>A (p.Leu1854Ile)
c.5506C>A (p.Leu1836Ile)
c.5398C>A (p.Leu1800Ile)
c.5461C>A (p.Leu1821Ile)
c.5431C>A (p.Leu1811Ile)
c.5503C>A (p.Leu1835Ile)
3g.38550813A=CA1358556643SCN5Ac.5556T= (p.Ile1852=)
c.5559T= (p.Ile1853=)
c.5505T= (p.Ile1835=)
c.5397T= (p.Ile1799=)
c.5460T= (p.Ile1820=)
c.5430T= (p.Ile1810=)
c.5502T= (p.Ile1834=)
3g.38550813A>CCA352140847SCN5Ac.5556T>G (p.Ile1852Met)
c.5559T>G (p.Ile1853Met)
c.5505T>G (p.Ile1835Met)
c.5397T>G (p.Ile1799Met)
c.5460T>G (p.Ile1820Met)
c.5430T>G (p.Ile1810Met)
c.5502T>G (p.Ile1834Met)
3g.38550813A>GCA064537SCN5Ac.5556T>C (p.Ile1852=)
c.5559T>C (p.Ile1853=)
c.5505T>C (p.Ile1835=)
c.5397T>C (p.Ile1799=)
c.5460T>C (p.Ile1820=)
c.5430T>C (p.Ile1810=)
c.5502T>C (p.Ile1834=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38550813A>TCA433332062SCN5Ac.5556T>A (p.Ile1852=)
c.5559T>A (p.Ile1853=)
c.5505T>A (p.Ile1835=)
c.5397T>A (p.Ile1799=)
c.5460T>A (p.Ile1820=)
c.5430T>A (p.Ile1810=)
c.5502T>A (p.Ile1834=)

Number of alleles fetched