Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.38603807del | CA2665114730 | SCN5A | c.1798del (p.Val600TrpfsTer23) c.1669del (p.Val557TrpfsTer23) | gnomAD v4 |
3 | g.38603805C>A | CA433332889 | SCN5A | c.1797G>T (p.Gly599=) c.1668G>T (p.Gly556=) | |
3 | g.38603805C>G | CA433332890 | SCN5A | c.1797G>C (p.Gly599=) c.1668G>C (p.Gly556=) | |
3 | g.38603805C>T | CA433332891 | SCN5A | c.1797G>A (p.Gly599=) c.1668G>A (p.Gly556=) | COSMIC COSMIC COSMIC |
3 | g.38603806C>A | CA352146115 | SCN5A | c.1796G>T (p.Gly599Val) c.1667G>T (p.Gly556Val) | |
3 | g.38603806C>G | CA352146118 | SCN5A | c.1796G>C (p.Gly599Ala) c.1667G>C (p.Gly556Ala) | |
3 | g.38603806C>T | CA352146120 | SCN5A | c.1796G>A (p.Gly599Glu) c.1667G>A (p.Gly556Glu) | |
3 | g.38603807C>A | CA352146122 | SCN5A | c.1795G>T (p.Gly599Trp) c.1666G>T (p.Gly556Trp) | ClinVar gnomAD v4 |
3 | g.38603807C= | CA1358584880 | SCN5A | c.1795G= (p.Gly599=) c.1666G= (p.Gly556=) | |
3 | g.38603807C>G | CA352146125 | SCN5A | c.1795G>C (p.Gly599Arg) c.1666G>C (p.Gly556Arg) | |
3 | g.38603807C>T | CA058809 | SCN5A | c.1795G>A (p.Gly599Arg) c.1666G>A (p.Gly556Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.38603808A= | CA1358584882 | SCN5A | c.1794T= (p.Asn598=) c.1665T= (p.Asn555=) | |
3 | g.38603808A>C | CA352146128 | SCN5A | c.1794T>G (p.Asn598Lys) c.1665T>G (p.Asn555Lys) | |
3 | g.38603808A>G | CA433332893 | SCN5A | c.1794T>C (p.Asn598=) c.1665T>C (p.Asn555=) | ClinVar dbSNP gnomAD v4 |
3 | g.38603808A>T | CA352146130 | SCN5A | c.1794T>A (p.Asn598Lys) c.1665T>A (p.Asn555Lys) | |
3 | g.38603809T>A | CA352146131 | SCN5A | c.1793A>T (p.Asn598Ile) c.1664A>T (p.Asn555Ile) | |
3 | g.38603809T>C | CA352146132 | SCN5A | c.1793A>G (p.Asn598Ser) c.1664A>G (p.Asn555Ser) | ClinVar dbSNP gnomAD v4 |
3 | g.38603809T>G | CA352146133 | SCN5A | c.1793A>C (p.Asn598Thr) c.1664A>C (p.Asn555Thr) | |
3 | g.38603809T= | CA1358584885 | SCN5A | c.1793A= (p.Asn598=) c.1664A= (p.Asn555=) | |
3 | g.38603810T>A | CA352146141 | SCN5A | c.1792A>T (p.Asn598Tyr) c.1663A>T (p.Asn555Tyr) | |
3 | g.38603810T>C | CA352146143 | SCN5A | c.1792A>G (p.Asn598Asp) c.1663A>G (p.Asn555Asp) | ClinVar |
3 | g.38603810T>G | CA352146135 | SCN5A | c.1792A>C (p.Asn598His) c.1663A>C (p.Asn555His) | |
3 | g.38603811G>A | CA433332897 | SCN5A | c.1791C>T (p.Cys597=) c.1662C>T (p.Cys554=) | gnomAD v4 |
3 | g.38603811G>C | CA352146147 | SCN5A | c.1791C>G (p.Cys597Trp) c.1662C>G (p.Cys554Trp) | |
3 | g.38603811G= | CA1358584890 | SCN5A | c.1791C= (p.Cys597=) c.1662C= (p.Cys554=) | |
3 | g.38603811G>T | CA352146149 | SCN5A | c.1791C>A (p.Cys597Ter) c.1662C>A (p.Cys554Ter) | dbSNP |
3 | g.38603812C>A | CA352146152 | SCN5A | c.1790G>T (p.Cys597Phe) c.1661G>T (p.Cys554Phe) | |
3 | g.38603812C= | CA1358584893 | SCN5A | c.1790G= (p.Cys597=) c.1661G= (p.Cys554=) | |
3 | g.38603812C>G | CA352146153 | SCN5A | c.1790G>C (p.Cys597Ser) c.1661G>C (p.Cys554Ser) | COSMIC COSMIC COSMIC |
3 | g.38603812C>T | CA352146154 | SCN5A | c.1790G>A (p.Cys597Tyr) c.1661G>A (p.Cys554Tyr) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.38603813A= | CA1358584895 | SCN5A | c.1789T= (p.Cys597=) c.1660T= (p.Cys554=) | |
3 | g.38603813A>C | CA352146157 | SCN5A | c.1789T>G (p.Cys597Gly) c.1660T>G (p.Cys554Gly) | dbSNP gnomAD v2 |
3 | g.38603813A>G | CA352146155 | SCN5A | c.1789T>C (p.Cys597Arg) c.1660T>C (p.Cys554Arg) | |
3 | g.38603813A>T | CA352146156 | SCN5A | c.1789T>A (p.Cys597Ser) c.1660T>A (p.Cys554Ser) | |
3 | g.38603814G>A | CA433332902 | SCN5A | c.1788C>T (p.Asp596=) c.1659C>T (p.Asp553=) | |
3 | g.38603814G>C | CA352146158 | SCN5A | c.1788C>G (p.Asp596Glu) c.1659C>G (p.Asp553Glu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.38603814G= | CA1358584897 | SCN5A | c.1788C= (p.Asp596=) c.1659C= (p.Asp553=) | |
3 | g.38603814G>T | CA352146160 | SCN5A | c.1788C>A (p.Asp596Glu) c.1659C>A (p.Asp553Glu) | |
3 | g.38603815T>A | CA352146161 | SCN5A | c.1787A>T (p.Asp596Val) c.1658A>T (p.Asp553Val) | |
3 | g.38603815T>C | CA015362 | SCN5A | c.1787A>G (p.Asp596Gly) c.1658A>G (p.Asp553Gly) | ClinVar dbSNP |
3 | g.38603815T>G | CA352146163 | SCN5A | c.1787A>C (p.Asp596Ala) c.1658A>C (p.Asp553Ala) | |
3 | g.38603815T= | CA1358584899 | SCN5A | c.1787A= (p.Asp596=) c.1658A= (p.Asp553=) | |
3 | g.38603816C>A | CA352146166 | SCN5A | c.1786G>T (p.Asp596Tyr) c.1657G>T (p.Asp553Tyr) | gnomAD v4 |
3 | g.38603816C>G | CA352146169 | SCN5A | c.1786G>C (p.Asp596His) c.1657G>C (p.Asp553His) | |
3 | g.38603816C>T | CA352146167 | SCN5A | c.1786G>A (p.Asp596Asn) c.1657G>A (p.Asp553Asn) | |
3 | g.38603817C>A | CA433332908 | SCN5A | c.1785G>T (p.Val595=) c.1656G>T (p.Val552=) | |
3 | g.38603817C>G | CA433332909 | SCN5A | c.1785G>C (p.Val595=) c.1656G>C (p.Val552=) | |
3 | g.38603817C>T | CA433332913 | SCN5A | c.1785G>A (p.Val595=) c.1656G>A (p.Val552=) | gnomAD v4 |
3 | g.38603818A= | CA1358584903 | SCN5A | c.1784T= (p.Val595=) c.1655T= (p.Val552=) | |
3 | g.38603818A>C | CA352146171 | SCN5A | c.1784T>G (p.Val595Gly) c.1655T>G (p.Val552Gly) |