Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.38603797G>A | CA352146077 | SCN5A | c.1805C>T (p.Ser602Leu) c.1676C>T (p.Ser559Leu) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.38603797G>C | CA352146081 | SCN5A | c.1805C>G (p.Ser602Ter) c.1676C>G (p.Ser559Ter) | |
3 | g.38603797G= | CA1358584868 | SCN5A | c.1805C= (p.Ser602=) c.1676C= (p.Ser559=) | |
3 | g.38603797G>T | CA352146079 | SCN5A | c.1805C>A (p.Ser602Ter) c.1676C>A (p.Ser559Ter) | COSMIC COSMIC COSMIC |
3 | g.38603798A>C | CA352146083 | SCN5A | c.1804T>G (p.Ser602Ala) c.1675T>G (p.Ser559Ala) | |
3 | g.38603798A>G | CA352146086 | SCN5A | c.1804T>C (p.Ser602Pro) c.1675T>C (p.Ser559Pro) | |
3 | g.38603798A>T | CA352146084 | SCN5A | c.1804T>A (p.Ser602Thr) c.1675T>A (p.Ser559Thr) | |
3 | g.38603799G>A | CA433332877 | SCN5A | c.1803C>T (p.Val601=) c.1674C>T (p.Val558=) | COSMIC COSMIC COSMIC |
3 | g.38603799G>C | CA433332879 | SCN5A | c.1803C>G (p.Val601=) c.1674C>G (p.Val558=) | |
3 | g.38603799G>T | CA433332878 | SCN5A | c.1803C>A (p.Val601=) c.1674C>A (p.Val558=) | |
3 | g.38603800A= | CA1358584871 | SCN5A | c.1802T= (p.Val601=) c.1673T= (p.Val558=) | |
3 | g.38603800A>C | CA352146090 | SCN5A | c.1802T>G (p.Val601Gly) c.1673T>G (p.Val558Gly) | |
3 | g.38603800A>G | CA015370 | SCN5A | c.1802T>C (p.Val601Ala) c.1673T>C (p.Val558Ala) | ClinVar dbSNP gnomAD v4 |
3 | g.38603800A>T | CA352146094 | SCN5A | c.1802T>A (p.Val601Asp) c.1673T>A (p.Val558Asp) | |
3 | g.38603801C>A | CA352146101 | SCN5A | c.1801G>T (p.Val601Phe) c.1672G>T (p.Val558Phe) | |
3 | g.38603801C>G | CA352146102 | SCN5A | c.1801G>C (p.Val601Leu) c.1672G>C (p.Val558Leu) | ClinVar dbSNP |
3 | g.38603801C>T | CA352146103 | SCN5A | c.1801G>A (p.Val601Ile) c.1672G>A (p.Val558Ile) | |
3 | g.38603802C>A | CA433332884 | SCN5A | c.1800G>T (p.Val600=) c.1671G>T (p.Val557=) | gnomAD v4 |
3 | g.38603802C= | CA1358584876 | SCN5A | c.1800G= (p.Val600=) c.1671G= (p.Val557=) | |
3 | g.38603802C>G | CA433332885 | SCN5A | c.1800G>C (p.Val600=) c.1671G>C (p.Val557=) | |
3 | g.38603802C>T | CA058828 | SCN5A | c.1800G>A (p.Val600=) c.1671G>A (p.Val557=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.38603803A= | CA1358584877 | SCN5A | c.1799T= (p.Val600=) c.1670T= (p.Val557=) | |
3 | g.38603803A>C | CA352146105 | SCN5A | c.1799T>G (p.Val600Gly) c.1670T>G (p.Val557Gly) | |
3 | g.38603803A>G | CA352146106 | SCN5A | c.1799T>C (p.Val600Ala) c.1670T>C (p.Val557Ala) | dbSNP gnomAD v4 |
3 | g.38603803A>T | CA352146108 | SCN5A | c.1799T>A (p.Val600Glu) c.1670T>A (p.Val557Glu) | |
3 | g.38603804C>A | CA352146113 | SCN5A | c.1798G>T (p.Val600Leu) c.1669G>T (p.Val557Leu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.38603804C= | CA1358584878 | SCN5A | c.1798G= (p.Val600=) c.1669G= (p.Val557=) | |
3 | g.38603804C>G | CA352146112 | SCN5A | c.1798G>C (p.Val600Leu) c.1669G>C (p.Val557Leu) | ClinVar dbSNP |
3 | g.38603804C>T | CA352146110 | SCN5A | c.1798G>A (p.Val600Met) c.1669G>A (p.Val557Met) | |
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=) | ClinVar |
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) | |
3 | g.38603818A>G | CA352146173 | SCN5A | c.1784T>C (p.Val595Ala) c.1655T>C (p.Val552Ala) | ClinVar dbSNP gnomAD v4 |
3 | g.38603818A>T | CA352146175 | SCN5A | c.1784T>A (p.Val595Glu) c.1655T>A (p.Val552Glu) | |
3 | g.38603819C>A | CA352146177 | SCN5A | c.1783G>T (p.Val595Leu) c.1654G>T (p.Val552Leu) | ClinVar dbSNP |
3 | g.38603819C>G | CA352146178 | SCN5A | c.1783G>C (p.Val595Leu) c.1654G>C (p.Val552Leu) | |
3 | g.38603819C>T | CA352146181 | SCN5A | c.1783G>A (p.Val595Met) c.1654G>A (p.Val552Met) | gnomAD v4 |
3 | g.38603820A>C | CA433332915 | SCN5A | c.1782T>G (p.Thr594=) c.1653T>G (p.Thr551=) | |
3 | g.38603820A>G | CA433332916 | SCN5A | c.1782T>C (p.Thr594=) c.1653T>C (p.Thr551=) | |
3 | g.38603820A>T | CA433332917 | SCN5A | c.1782T>A (p.Thr594=) c.1653T>A (p.Thr551=) | |
3 | g.38603821G>A | CA352146184 | SCN5A | c.1781C>T (p.Thr594Ile) c.1652C>T (p.Thr551Ile) | ClinVar gnomAD v4 |
3 | g.38603821G>C | CA352146185 | SCN5A | c.1781C>G (p.Thr594Ser) c.1652C>G (p.Thr551Ser) | |
3 | g.38603821G>T | CA352146186 | SCN5A | c.1781C>A (p.Thr594Asn) c.1652C>A (p.Thr551Asn) | |
3 | g.38603822T>A | CA352146187 | SCN5A | c.1780A>T (p.Thr594Ser) c.1651A>T (p.Thr551Ser) | |
3 | g.38603822T>C | CA352146188 | SCN5A | c.1780A>G (p.Thr594Ala) c.1651A>G (p.Thr551Ala) | |
3 | g.38603822T>G | CA352146189 | SCN5A | c.1780A>C (p.Thr594Pro) c.1651A>C (p.Thr551Pro) | |
3 | g.38603823G>A | CA433332924 | SCN5A | c.1779C>T (p.Ser593=) c.1650C>T (p.Ser550=) | |
3 | g.38603823G>C | CA352146191 | SCN5A | c.1779C>G (p.Ser593Arg) c.1650C>G (p.Ser550Arg) | |
3 | g.38603823G>T | CA352146190 | SCN5A | c.1779C>A (p.Ser593Arg) c.1650C>A (p.Ser550Arg) | |
3 | g.38603824C>A | CA352146193 | SCN5A | c.1778G>T (p.Ser593Ile) c.1649G>T (p.Ser550Ile) | |
3 | g.38603824C>G | CA352146197 | SCN5A | c.1778G>C (p.Ser593Thr) c.1649G>C (p.Ser550Thr) | |
3 | g.38603824C>T | CA352146195 | SCN5A | c.1778G>A (p.Ser593Asn) c.1649G>A (p.Ser550Asn) | |
3 | g.38603825T>A | CA352146200 | SCN5A | c.1777A>T (p.Ser593Cys) c.1648A>T (p.Ser550Cys) | |
3 | g.38603825T>C | CA352146201 | SCN5A | c.1777A>G (p.Ser593Gly) c.1648A>G (p.Ser550Gly) | gnomAD v4 |
3 | g.38603825T>G | CA352146203 | SCN5A | c.1777A>C (p.Ser593Arg) c.1648A>C (p.Ser550Arg) | |
3 | g.38603826G>A | CA058802 | SCN5A | c.1776C>T (p.Asn592=) c.1647C>T (p.Asn549=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38603826G>C | CA058791 | SCN5A | c.1776C>G (p.Asn592Lys) c.1647C>G (p.Asn549Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38603826G= | CA1358584906 | SCN5A | c.1776C= (p.Asn592=) c.1647C= (p.Asn549=) | |
3 | g.38603826G>T | CA015355 | SCN5A | c.1776C>A (p.Asn592Lys) c.1647C>A (p.Asn549Lys) | ClinVar dbSNP |
3 | g.38603827T>A | CA352146210 | SCN5A | c.1775A>T (p.Asn592Ile) c.1646A>T (p.Asn549Ile) | |
3 | g.38603827T>C | CA352146212 | SCN5A | c.1775A>G (p.Asn592Ser) c.1646A>G (p.Asn549Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38603827T>G | CA352146215 | SCN5A | c.1775A>C (p.Asn592Thr) c.1646A>C (p.Asn549Thr) | |
3 | g.38603827T= | CA1358584910 | SCN5A | c.1775A= (p.Asn592=) c.1646A= (p.Asn549=) | |
3 | g.38603828T>A | CA352146218 | SCN5A | c.1774A>T (p.Asn592Tyr) c.1645A>T (p.Asn549Tyr) | |
3 | g.38603828T>C | CA352146222 | SCN5A | c.1774A>G (p.Asn592Asp) c.1645A>G (p.Asn549Asp) | |
3 | g.38603828T>G | CA352146223 | SCN5A | c.1774A>C (p.Asn592His) c.1645A>C (p.Asn549His) | |
3 | g.38603829C>A | CA352146229 | SCN5A | c.1773G>T (p.Lys591Asn) c.1644G>T (p.Lys548Asn) | gnomAD v4 COSMIC COSMIC COSMIC |
3 | g.38603829C= | CA1358584911 | SCN5A | c.1773G= (p.Lys591=) c.1644G= (p.Lys548=) | |
3 | g.38603829C>G | CA352146227 | SCN5A | c.1773G>C (p.Lys591Asn) c.1644G>C (p.Lys548Asn) | |
3 | g.38603829C>T | CA72939119 | SCN5A | c.1773G>A (p.Lys591=) c.1644G>A (p.Lys548=) | dbSNP gnomAD v4 |
3 | g.38603830T>A | CA352146230 | SCN5A | c.1772A>T (p.Lys591Met) c.1643A>T (p.Lys548Met) | |
3 | g.38603830T>C | CA352146231 | SCN5A | c.1772A>G (p.Lys591Arg) c.1643A>G (p.Lys548Arg) | |
3 | g.38603830T>G | CA352146232 | SCN5A | c.1772A>C (p.Lys591Thr) c.1643A>C (p.Lys548Thr) | |
3 | g.38603834dup | CA645519431 | SCN5A | c.1772dup (p.Asn592GlufsTer?) c.1643dup (p.Asn549GlufsTer?) | COSMIC COSMIC COSMIC |
3 | g.38603831T>A | CA352146234 | SCN5A | c.1771A>T (p.Lys591Ter) c.1642A>T (p.Lys548Ter) | dbSNP |
3 | g.38603831T>C | CA352146235 | SCN5A | c.1771A>G (p.Lys591Glu) c.1642A>G (p.Lys548Glu) | |
3 | g.38603831T>G | CA352146238 | SCN5A | c.1771A>C (p.Lys591Gln) c.1642A>C (p.Lys548Gln) | |
3 | g.38603831T= | CA1358584912 | SCN5A | c.1771A= (p.Lys591=) c.1642A= (p.Lys548=) | |
3 | g.38603832T>A | CA352146240 | SCN5A | c.1770A>T (p.Lys590Asn) c.1641A>T (p.Lys547Asn) | |
3 | g.38603832T>C | CA433332941 | SCN5A | c.1770A>G (p.Lys590=) c.1641A>G (p.Lys547=) | |
3 | g.38603832T>G | CA352146243 | SCN5A | c.1770A>C (p.Lys590Asn) c.1641A>C (p.Lys547Asn) | |
3 | g.38603833T>A | CA352146245 | SCN5A | c.1769A>T (p.Lys590Ile) c.1640A>T (p.Lys547Ile) | |
3 | g.38603833T>C | CA352146246 | SCN5A | c.1769A>G (p.Lys590Arg) c.1640A>G (p.Lys547Arg) | |
3 | g.38603833T>G | CA352146247 | SCN5A | c.1769A>C (p.Lys590Thr) c.1640A>C (p.Lys547Thr) | |
3 | g.38603834T>A | CA352146251 | SCN5A | c.1768A>T (p.Lys590Ter) c.1639A>T (p.Lys547Ter) | dbSNP |
3 | g.38603834T>C | CA352146250 | SCN5A | c.1768A>G (p.Lys590Glu) c.1639A>G (p.Lys547Glu) | gnomAD v4 |
3 | g.38603834T>G | CA16611286 | SCN5A | c.1768A>C (p.Lys590Gln) c.1639A>C (p.Lys547Gln) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38603834T= | CA1358584913 | SCN5A | c.1768A= (p.Lys590=) c.1639A= (p.Lys547=) | |
3 | g.38603835G>A | CA433332946 | SCN5A | c.1767C>T (p.Gly589=) c.1638C>T (p.Gly546=) | |
3 | g.38603835G>C | CA433332945 | SCN5A | c.1767C>G (p.Gly589=) c.1638C>G (p.Gly546=) | |
3 | g.38603835G>T | CA433332943 | SCN5A | c.1767C>A (p.Gly589=) c.1638C>A (p.Gly546=) | |
3 | g.38603836C>A | CA352146253 | SCN5A | c.1766G>T (p.Gly589Val) c.1637G>T (p.Gly546Val) | |
3 | g.38603836C>G | CA352146256 | SCN5A | c.1766G>C (p.Gly589Ala) c.1637G>C (p.Gly546Ala) | |
3 | g.38603836C>T | CA352146258 | SCN5A | c.1766G>A (p.Gly589Asp) c.1637G>A (p.Gly546Asp) | |
3 | g.38603837C>A | CA352146261 | SCN5A | c.1765G>T (p.Gly589Cys) c.1636G>T (p.Gly546Cys) | |
3 | g.38603837C>G | CA352146263 | SCN5A | c.1765G>C (p.Gly589Arg) c.1636G>C (p.Gly546Arg) | |
3 | g.38603837C>T | CA352146266 | SCN5A | c.1765G>A (p.Gly589Ser) c.1636G>A (p.Gly546Ser) | |
3 | g.38603838A= | CA1358584914 | SCN5A | c.1764T= (p.His588=) c.1635T= (p.His545=) | |
3 | g.38603838A>C | CA352146268 | SCN5A | c.1764T>G (p.His588Gln) c.1635T>G (p.His545Gln) | |
3 | g.38603838A>G | CA058780 | SCN5A | c.1764T>C (p.His588=) c.1635T>C (p.His545=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC |
3 | g.38603838A>T | CA352146271 | SCN5A | c.1764T>A (p.His588Gln) c.1635T>A (p.His545Gln) | |
3 | g.38603839T>A | CA352146279 | SCN5A | c.1763A>T (p.His588Leu) c.1634A>T (p.His545Leu) | |
3 | g.38603839T>C | CA352146281 | SCN5A | c.1763A>G (p.His588Arg) c.1634A>G (p.His545Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.38603839T>G | CA352146284 | SCN5A | c.1763A>C (p.His588Pro) c.1634A>C (p.His545Pro) | |
3 | g.38603839T= | CA1358584915 | SCN5A | c.1763A= (p.His588=) c.1634A= (p.His545=) | |
3 | g.38603840G>A | CA352146291 | SCN5A | c.1762C>T (p.His588Tyr) c.1633C>T (p.His545Tyr) | ClinVar |
3 | g.38603840G>C | CA352146293 | SCN5A | c.1762C>G (p.His588Asp) c.1633C>G (p.His545Asp) | |
3 | g.38603840G= | CA1358584916 | SCN5A | c.1762C= (p.His588=) c.1633C= (p.His545=) | |
3 | g.38603840G>T | CA2319561 | SCN5A | c.1762C>A (p.His588Asn) c.1633C>A (p.His545Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.38603840_38603846delinsGGAGGGC | CA1358584917 | SCN5A | c.1756_1762delinsGCCCTCC (p.Ala586=) c.1627_1633delinsGCCCTCC (p.Ala543=) | |
3 | g.38603841G>A | CA433332953 | SCN5A | c.1761C>T (p.Leu587=) c.1632C>T (p.Leu544=) | |
3 | g.38603841G>C | CA433332959 | SCN5A | c.1761C>G (p.Leu587=) c.1632C>G (p.Leu544=) | |
3 | g.38603841G>T | CA433332956 | SCN5A | c.1761C>A (p.Leu587=) c.1632C>A (p.Leu544=) | |
3 | g.38603842_38603847del | CA354278 | SCN5A | c.1756_1761del (p.Ala586_Leu587del) c.1627_1632del (p.Ala543_Leu544del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38603842A>C | CA352146298 | SCN5A | c.1760T>G (p.Leu587Arg) c.1631T>G (p.Leu544Arg) | |
3 | g.38603842A>G | CA352146300 | SCN5A | c.1760T>C (p.Leu587Pro) c.1631T>C (p.Leu544Pro) | |
3 | g.38603842A>T | CA352146302 | SCN5A | c.1760T>A (p.Leu587His) c.1631T>A (p.Leu544His) | |
3 | g.38603843G>A | CA352146315 | SCN5A | c.1759C>T (p.Leu587Phe) c.1630C>T (p.Leu544Phe) | gnomAD v4 |
3 | g.38603843G>C | CA352146313 | SCN5A | c.1759C>G (p.Leu587Val) c.1630C>G (p.Leu544Val) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.38603843G= | CA1358584918 | SCN5A | c.1759C= (p.Leu587=) c.1630C= (p.Leu544=) | |
3 | g.38603843G>T | CA352146312 | SCN5A | c.1759C>A (p.Leu587Ile) c.1630C>A (p.Leu544Ile) | |
3 | g.38603844G>A | CA433332966 | SCN5A | c.1758C>T (p.Ala586=) c.1629C>T (p.Ala543=) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.38603844G>C | CA433332968 | SCN5A | c.1758C>G (p.Ala586=) c.1629C>G (p.Ala543=) | |
3 | g.38603844G= | CA1358584919 | SCN5A | c.1758C= (p.Ala586=) c.1629C= (p.Ala543=) | |
3 | g.38603844G>T | CA433332970 | SCN5A | c.1758C>A (p.Ala586=) c.1629C>A (p.Ala543=) | dbSNP |
3 | g.38603845G>A | CA352146319 | SCN5A | c.1757C>T (p.Ala586Val) c.1628C>T (p.Ala543Val) | |
3 | g.38603845G>C | CA058770 | SCN5A | c.1757C>G (p.Ala586Gly) c.1628C>G (p.Ala543Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.38603845G= | CA1358584920 | SCN5A | c.1757C= (p.Ala586=) c.1628C= (p.Ala543=) | |
3 | g.38603845G>T | CA352146321 | SCN5A | c.1757C>A (p.Ala586Asp) c.1628C>A (p.Ala543Asp) | |
3 | g.38603846C>A | CA352146325 | SCN5A | c.1756G>T (p.Ala586Ser) c.1627G>T (p.Ala543Ser) | |
3 | g.38603846C= | CA1358584921 | SCN5A | c.1756G= (p.Ala586=) c.1627G= (p.Ala543=) | |
3 | g.38603846C>G | CA352146326 | SCN5A | c.1756G>C (p.Ala586Pro) c.1627G>C (p.Ala543Pro) | |
3 | g.38603846C>T | CA015347 | SCN5A | c.1756G>A (p.Ala586Thr) c.1627G>A (p.Ala543Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38603847G>A | CA015323 | SCN5A | c.1755C>T (p.His585=) c.1626C>T (p.His542=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
3 | g.38603847G>C | CA352146332 | SCN5A | c.1755C>G (p.His585Gln) c.1626C>G (p.His542Gln) | gnomAD v4 |
3 | g.38603847G= | CA1358584922 | SCN5A | c.1755C= (p.His585=) c.1626C= (p.His542=) | |
3 | g.38603847G>T | CA352146330 | SCN5A | c.1755C>A (p.His585Gln) c.1626C>A (p.His542Gln) | |
3 | g.38603848T>A | CA352146335 | SCN5A | c.1754A>T (p.His585Leu) c.1625A>T (p.His542Leu) | |
3 | g.38603848T>C | CA352146338 | SCN5A | c.1754A>G (p.His585Arg) c.1625A>G (p.His542Arg) | |
3 | g.38603848T>G | CA352146337 | SCN5A | c.1754A>C (p.His585Pro) c.1625A>C (p.His542Pro) | |
3 | g.38603848_38603849delinsTG | CA1358584923 | SCN5A | c.1753_1754delinsCA (p.His585=) c.1624_1625delinsCA (p.His542=) | |
3 | g.38603849G>A | CA352146342 | SCN5A | c.1753C>T (p.His585Tyr) c.1624C>T (p.His542Tyr) | gnomAD v4 |
3 | g.38603849G>C | CA352146345 | SCN5A | c.1753C>G (p.His585Asp) c.1624C>G (p.His542Asp) | |
3 | g.38603849G>T | CA352146347 | SCN5A | c.1753C>A (p.His585Asn) c.1624C>A (p.His542Asn) | |
3 | g.38603850del | CA015310 | SCN5A | c.1753del (p.His585ThrfsTer?) c.1624del (p.His542ThrfsTer?) | ClinVar dbSNP |
3 | g.38603850G>A | CA433332993 | SCN5A | c.1752C>T (p.Gly584=) c.1623C>T (p.Gly541=) | ClinVar dbSNP gnomAD v4 |
3 | g.38603850G>C | CA433332987 | SCN5A | c.1752C>G (p.Gly584=) c.1623C>G (p.Gly541=) | ClinVar dbSNP |
3 | g.38603850G= | CA1358584924 | SCN5A | c.1752C= (p.Gly584=) c.1623C= (p.Gly541=) | |
3 | g.38603850G>T | CA433332990 | SCN5A | c.1752C>A (p.Gly584=) c.1623C>A (p.Gly541=) | |
3 | g.38603851C>A | CA352146349 | SCN5A | c.1751G>T (p.Gly584Val) c.1622G>T (p.Gly541Val) | |
3 | g.38603851C>G | CA352146351 | SCN5A | c.1751G>C (p.Gly584Ala) c.1622G>C (p.Gly541Ala) | |
3 | g.38603851C>T | CA352146354 | SCN5A | c.1751G>A (p.Gly584Asp) c.1622G>A (p.Gly541Asp) | gnomAD v4 COSMIC COSMIC COSMIC |
3 | g.38603852C>A | CA352146357 | SCN5A | c.1750G>T (p.Gly584Cys) c.1621G>T (p.Gly541Cys) | gnomAD v4 |
3 | g.38603852C= | CA1358584925 | SCN5A | c.1750G= (p.Gly584=) c.1621G= (p.Gly541=) | |
3 | g.38603852C>G | CA058722 | SCN5A | c.1750G>C (p.Gly584Arg) c.1621G>C (p.Gly541Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38603852C>T | CA352146360 | SCN5A | c.1750G>A (p.Gly584Ser) c.1621G>A (p.Gly541Ser) | |
3 | g.38603853A>C | CA433332998 | SCN5A | c.1749T>G (p.Pro583=) c.1620T>G (p.Pro540=) | |
3 | g.38603853A>G | CA433333000 | SCN5A | c.1749T>C (p.Pro583=) c.1620T>C (p.Pro540=) | |
3 | g.38603853A>T | CA433333004 | SCN5A | c.1749T>A (p.Pro583=) c.1620T>A (p.Pro540=) | |
3 | g.38603854G>A | CA352146362 | SCN5A | c.1748C>T (p.Pro583Leu) c.1619C>T (p.Pro540Leu) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.38603854G>C | CA352146363 | SCN5A | c.1748C>G (p.Pro583Arg) c.1619C>G (p.Pro540Arg) | |
3 | g.38603854G= | CA1358584926 | SCN5A | c.1748C= (p.Pro583=) c.1619C= (p.Pro540=) | |
3 | g.38603854G>T | CA352146365 | SCN5A | c.1748C>A (p.Pro583His) c.1619C>A (p.Pro540His) | |
3 | g.38603855G>A | CA352146370 | SCN5A | c.1747C>T (p.Pro583Ser) c.1618C>T (p.Pro540Ser) | COSMIC COSMIC COSMIC |
3 | g.38603855G>C | CA352146369 | SCN5A | c.1747C>G (p.Pro583Ala) c.1618C>G (p.Pro540Ala) | |
3 | g.38603855G>T | CA352146368 | SCN5A | c.1747C>A (p.Pro583Thr) c.1618C>A (p.Pro540Thr) | |
3 | g.38603856A>C | CA433333009 | SCN5A | c.1746T>G (p.Ala582=) c.1617T>G (p.Ala539=) | |
3 | g.38603856A>G | CA433333008 | SCN5A | c.1746T>C (p.Ala582=) c.1617T>C (p.Ala539=) | |
3 | g.38603856A>T | CA433333014 | SCN5A | c.1746T>A (p.Ala582=) c.1617T>A (p.Ala539=) | |
3 | g.38603857G>A | CA352146371 | SCN5A | c.1745C>T (p.Ala582Val) c.1616C>T (p.Ala539Val) | |
3 | g.38603857G>C | CA352146372 | SCN5A | c.1745C>G (p.Ala582Gly) c.1616C>G (p.Ala539Gly) | dbSNP |
3 | g.38603857G= | CA1358584927 | SCN5A | c.1745C= (p.Ala582=) c.1616C= (p.Ala539=) | |
3 | g.38603857G>T | CA352146375 | SCN5A | c.1745C>A (p.Ala582Asp) c.1616C>A (p.Ala539Asp) | gnomAD v4 COSMIC COSMIC COSMIC |
3 | g.38603858C>A | CA352146376 | SCN5A | c.1744G>T (p.Ala582Ser) c.1615G>T (p.Ala539Ser) | |
3 | g.38603858C>G | CA352146377 | SCN5A | c.1744G>C (p.Ala582Pro) c.1615G>C (p.Ala539Pro) | |
3 | g.38603858C>T | CA352146378 | SCN5A | c.1744G>A (p.Ala582Thr) c.1615G>A (p.Ala539Thr) | gnomAD v4 COSMIC COSMIC COSMIC |
3 | g.38603859C>A | CA058709 | SCN5A | c.1743G>T (p.Ser581=) c.1614G>T (p.Ser538=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.38603859C= | CA1358584928 | SCN5A | c.1743G= (p.Ser581=) c.1614G= (p.Ser538=) | |
3 | g.38603859C>G | CA433333022 | SCN5A | c.1743G>C (p.Ser581=) c.1614G>C (p.Ser538=) | dbSNP |
3 | g.38603859C>T | CA015302 | SCN5A | c.1743G>A (p.Ser581=) c.1614G>A (p.Ser538=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38603860G>A | CA058688 | SCN5A | c.1742C>T (p.Ser581Leu) c.1613C>T (p.Ser538Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
3 | g.38603860G>C | CA352146383 | SCN5A | c.1742C>G (p.Ser581Trp) c.1613C>G (p.Ser538Trp) | |
3 | g.38603860G= | CA1358584929 | SCN5A | c.1742C= (p.Ser581=) c.1613C= (p.Ser538=) | |
3 | g.38603860G>T | CA352146385 | SCN5A | c.1742C>A (p.Ser581Ter) c.1613C>A (p.Ser538Ter) | dbSNP |
3 | g.38603861A>C | CA352146390 | SCN5A | c.1741T>G (p.Ser581Ala) c.1612T>G (p.Ser538Ala) | |
3 | g.38603861A>G | CA352146391 | SCN5A | c.1741T>C (p.Ser581Pro) c.1612T>C (p.Ser538Pro) | |
3 | g.38603861A>T | CA352146389 | SCN5A | c.1741T>A (p.Ser581Thr) c.1612T>A (p.Ser538Thr) | |
3 | g.38603862G>A | CA433333030 | SCN5A | c.1740C>T (p.Thr580=) c.1611C>T (p.Thr537=) | gnomAD v4 |
3 | g.38603862G>C | CA433333031 | SCN5A | c.1740C>G (p.Thr580=) c.1611C>G (p.Thr537=) | |
3 | g.38603862G>T | CA433333032 | SCN5A | c.1740C>A (p.Thr580=) c.1611C>A (p.Thr537=) | |
3 | g.38603863G>A | CA352146397 | SCN5A | c.1739C>T (p.Thr580Ile) c.1610C>T (p.Thr537Ile) | |
3 | g.38603863G>C | CA352146400 | SCN5A | c.1739C>G (p.Thr580Ser) c.1610C>G (p.Thr537Ser) | |
3 | g.38603863G>T | CA352146401 | SCN5A | c.1739C>A (p.Thr580Asn) c.1610C>A (p.Thr537Asn) | gnomAD v4 |
3 | g.38603864T>A | CA352146404 | SCN5A | c.1738A>T (p.Thr580Ser) c.1609A>T (p.Thr537Ser) | |
3 | g.38603864T>C | CA352146407 | SCN5A | c.1738A>G (p.Thr580Ala) c.1609A>G (p.Thr537Ala) | |
3 | g.38603864T>G | CA352146409 | SCN5A | c.1738A>C (p.Thr580Pro) c.1609A>C (p.Thr537Pro) | |
3 | g.38603865T>A | CA433333042 | SCN5A | c.1737A>T (p.Gly579=) c.1608A>T (p.Gly536=) | |
3 | g.38603865T>C | CA433333043 | SCN5A | c.1737A>G (p.Gly579=) c.1608A>G (p.Gly536=) | ClinVar |
3 | g.38603865T>G | CA433333044 | SCN5A | c.1737A>C (p.Gly579=) c.1608A>C (p.Gly536=) | |
3 | g.38603866C>A | CA352146412 | SCN5A | c.1736G>T (p.Gly579Val) c.1607G>T (p.Gly536Val) | |
3 | g.38603866C= | CA1358584930 | SCN5A | c.1736G= (p.Gly579=) c.1607G= (p.Gly536=) | |
3 | g.38603866C>G | CA352146411 | SCN5A | c.1736G>C (p.Gly579Ala) c.1607G>C (p.Gly536Ala) | |
3 | g.38603866C>T | CA72939151 | SCN5A | c.1736G>A (p.Gly579Glu) c.1607G>A (p.Gly536Glu) | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
3 | g.38603867C>A | CA352146413 | SCN5A | c.1735G>T (p.Gly579Ter) c.1606G>T (p.Gly536Ter) | dbSNP |
3 | g.38603867C= | CA1358584931 | SCN5A | c.1735G= (p.Gly579=) c.1606G= (p.Gly536=) | |
3 | g.38603867C>G | CA352146415 | SCN5A | c.1735G>C (p.Gly579Arg) c.1606G>C (p.Gly536Arg) | |
3 | g.38603867C>T | CA015293 | SCN5A | c.1735G>A (p.Gly579Arg) c.1606G>A (p.Gly536Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
3 | g.38603868G>A | CA058673 | SCN5A | c.1734C>T (p.Pro578=) c.1605C>T (p.Pro535=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
3 | g.38603868G>C | CA433333051 | SCN5A | c.1734C>G (p.Pro578=) c.1605C>G (p.Pro535=) | |
3 | g.38603868G= | CA1358584932 | SCN5A | c.1734C= (p.Pro578=) c.1605C= (p.Pro535=) | |
3 | g.38603868G>T | CA058665 | SCN5A | c.1734C>A (p.Pro578=) c.1605C>A (p.Pro535=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38603869G>A | CA352146421 | SCN5A | c.1733C>T (p.Pro578Leu) c.1604C>T (p.Pro535Leu) | COSMIC COSMIC COSMIC |
3 | g.38603869G>C | CA352146423 | SCN5A | c.1733C>G (p.Pro578Arg) c.1604C>G (p.Pro535Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.38603869G= | CA1358584933 | SCN5A | c.1733C= (p.Pro578=) c.1604C= (p.Pro535=) | |
3 | g.38603869G>T | CA352146422 | SCN5A | c.1733C>A (p.Pro578His) c.1604C>A (p.Pro535His) | gnomAD v4 |
3 | g.38603870G>A | CA352146425 | SCN5A | c.1732C>T (p.Pro578Ser) c.1603C>T (p.Pro535Ser) | dbSNP |
3 | g.38603870G>C | CA352146426 | SCN5A | c.1732C>G (p.Pro578Ala) c.1603C>G (p.Pro535Ala) | |
3 | g.38603870G= | CA1358584934 | SCN5A | c.1732C= (p.Pro578=) c.1603C= (p.Pro535=) | |
3 | g.38603870G>T | CA352146429 | SCN5A | c.1732C>A (p.Pro578Thr) c.1603C>A (p.Pro535Thr) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.38603871A>C | CA352146431 | SCN5A | c.1731T>G (p.Ser577Arg) c.1602T>G (p.Ser534Arg) | |
3 | g.38603871A>G | CA433333059 | SCN5A | c.1731T>C (p.Ser577=) c.1602T>C (p.Ser534=) | |
3 | g.38603871A>T | CA352146433 | SCN5A | c.1731T>A (p.Ser577Arg) c.1602T>A (p.Ser534Arg) | |
3 | g.38603872C>A | CA352146444 | SCN5A | c.1730G>T (p.Ser577Ile) c.1601G>T (p.Ser534Ile) | |
3 | g.38603872C= | CA1358584935 | SCN5A | c.1730G= (p.Ser577=) c.1601G= (p.Ser534=) | |
3 | g.38603872C>G | CA352146447 | SCN5A | c.1730G>C (p.Ser577Thr) c.1601G>C (p.Ser534Thr) | gnomAD v4 |
3 | g.38603872C>T | CA352146450 | SCN5A | c.1730G>A (p.Ser577Asn) c.1601G>A (p.Ser534Asn) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.38603873T>A | CA352146451 | SCN5A | c.1729A>T (p.Ser577Cys) c.1600A>T (p.Ser534Cys) | |
3 | g.38603873T>C | CA352146453 | SCN5A | c.1729A>G (p.Ser577Gly) c.1600A>G (p.Ser534Gly) | |
3 | g.38603873T>G | CA352146456 | SCN5A | c.1729A>C (p.Ser577Arg) c.1600A>C (p.Ser534Arg) | ClinVar dbSNP gnomAD v4 |
3 | g.38603873T= | CA1358584936 | SCN5A | c.1729A= (p.Ser577=) c.1600A= (p.Ser534=) | |
3 | g.38603874G>A | CA433333068 | SCN5A | c.1728C>T (p.Pro576=) c.1599C>T (p.Pro533=) | ClinVar dbSNP |
3 | g.38603874G>C | CA433333069 | SCN5A | c.1728C>G (p.Pro576=) c.1599C>G (p.Pro533=) | ClinVar dbSNP |
3 | g.38603874G= | CA1358584937 | SCN5A | c.1728C= (p.Pro576=) c.1599C= (p.Pro533=) | |
3 | g.38603874G>T | CA433333071 | SCN5A | c.1728C>A (p.Pro576=) c.1599C>A (p.Pro533=) | |
3 | g.38603875G>A | CA352146464 | SCN5A | c.1727C>T (p.Pro576Leu) c.1598C>T (p.Pro533Leu) | gnomAD v4 |
3 | g.38603875G>C | CA352146462 | SCN5A | c.1727C>G (p.Pro576Arg) c.1598C>G (p.Pro533Arg) | |
3 | g.38603875G>T | CA352146459 | SCN5A | c.1727C>A (p.Pro576His) c.1598C>A (p.Pro533His) | |
3 | g.38603876G>A | CA352146467 | SCN5A | c.1726C>T (p.Pro576Ser) c.1597C>T (p.Pro533Ser) | COSMIC COSMIC COSMIC |
3 | g.38603876G>C | CA352146468 | SCN5A | c.1726C>G (p.Pro576Ala) c.1597C>G (p.Pro533Ala) | ClinVar dbSNP |
3 | g.38603876G= | CA1358584938 | SCN5A | c.1726C= (p.Pro576=) c.1597C= (p.Pro533=) | |
3 | g.38603876G>T | CA352146472 | SCN5A | c.1726C>A (p.Pro576Thr) c.1597C>A (p.Pro533Thr) | |
3 | g.38603877C>A | CA352146485 | SCN5A | c.1725G>T (p.Gln575His) c.1596G>T (p.Gln532His) | |
3 | g.38603877C>G | CA352146488 | SCN5A | c.1725G>C (p.Gln575His) c.1596G>C (p.Gln532His) | |
3 | g.38603877C>T | CA433333075 | SCN5A | c.1725G>A (p.Gln575=) c.1596G>A (p.Gln532=) | COSMIC COSMIC COSMIC |
3 | g.38603878T>A | CA352146498 | SCN5A | c.1724A>T (p.Gln575Leu) c.1595A>T (p.Gln532Leu) | |
3 | g.38603878T>C | CA352146497 | SCN5A | c.1724A>G (p.Gln575Arg) c.1595A>G (p.Gln532Arg) | gnomAD v4 |
3 | g.38603878T>G | CA352146491 | SCN5A | c.1724A>C (p.Gln575Pro) c.1595A>C (p.Gln532Pro) | |
3 | g.38603879G>A | CA352146500 | SCN5A | c.1723C>T (p.Gln575Ter) c.1594C>T (p.Gln532Ter) | dbSNP |
3 | g.38603879G>C | CA352146502 | SCN5A | c.1723C>G (p.Gln575Glu) c.1594C>G (p.Gln532Glu) | ClinVar dbSNP gnomAD v4 |
3 | g.38603879G= | CA1358584939 | SCN5A | c.1723C= (p.Gln575=) c.1594C= (p.Gln532=) | |
3 | g.38603879G>T | CA352146504 | SCN5A | c.1723C>A (p.Gln575Lys) c.1594C>A (p.Gln532Lys) | |
3 | g.38603880T>A | CA433333084 | SCN5A | c.1722A>T (p.Gly574=) c.1593A>T (p.Gly531=) | |
3 | g.38603880T>C | CA433333085 | SCN5A | c.1722A>G (p.Gly574=) c.1593A>G (p.Gly531=) | |
3 | g.38603880T>G | CA433333087 | SCN5A | c.1722A>C (p.Gly574=) c.1593A>C (p.Gly531=) | |
3 | g.38603881C>A | CA352146507 | SCN5A | c.1721G>T (p.Gly574Val) c.1592G>T (p.Gly531Val) | |
3 | g.38603881C= | CA1358584940 | SCN5A | c.1721G= (p.Gly574=) c.1592G= (p.Gly531=) | |
3 | g.38603881C>G | CA352146509 | SCN5A | c.1721G>C (p.Gly574Ala) c.1592G>C (p.Gly531Ala) | |
3 | g.38603881C>T | CA352146511 | SCN5A | c.1721G>A (p.Gly574Glu) c.1592G>A (p.Gly531Glu) | dbSNP gnomAD v4 COSMIC COSMIC COSMIC |
3 | g.38603883del | CA2586971909 | SCN5A | c.1721del (p.Gly574AspfsTer?) c.1592del (p.Gly531AspfsTer?) | |
3 | g.38603882C>A | CA352146520 | SCN5A | c.1720G>T (p.Gly574Ter) c.1591G>T (p.Gly531Ter) | |
3 | g.38603882C>G | CA352146514 | SCN5A | c.1720G>C (p.Gly574Arg) c.1591G>C (p.Gly531Arg) | |
3 | g.38603882C>T | CA352146517 | SCN5A | c.1720G>A (p.Gly574Arg) c.1591G>A (p.Gly531Arg) | |
3 | g.38603883C>A | CA352146522 | SCN5A | c.1719G>T (p.Gln573His) c.1590G>T (p.Gln530His) | |
3 | g.38603883C>G | CA352146525 | SCN5A | c.1719G>C (p.Gln573His) c.1590G>C (p.Gln530His) | |
3 | g.38603883C>T | CA433333090 | SCN5A | c.1719G>A (p.Gln573=) c.1590G>A (p.Gln530=) | |
3 | g.38603884T>A | CA352146529 | SCN5A | c.1718A>T (p.Gln573Leu) c.1589A>T (p.Gln530Leu) | |
3 | g.38603884T>C | CA352146531 | SCN5A | c.1718A>G (p.Gln573Arg) c.1589A>G (p.Gln530Arg) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.38603884T>G | CA352146534 | SCN5A | c.1718A>C (p.Gln573Pro) c.1589A>C (p.Gln530Pro) | |
3 | g.38603884T= | CA1358584941 | SCN5A | c.1718A= (p.Gln573=) c.1589A= (p.Gln530=) | |
3 | g.38603885G>A | CA352146536 | SCN5A | c.1717C>T (p.Gln573Ter) c.1588C>T (p.Gln530Ter) | |
3 | g.38603885G>C | CA015285 | SCN5A | c.1717C>G (p.Gln573Glu) c.1588C>G (p.Gln530Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38603885G= | CA1358584942 | SCN5A | c.1717C= (p.Gln573=) c.1588C= (p.Gln530=) | |
3 | g.38603885G>T | CA352146539 | SCN5A | c.1717C>A (p.Gln573Lys) c.1588C>A (p.Gln530Lys) | |
3 | g.38603887del | CA2595895042 | SCN5A | c.1717del (p.Gln573ArgfsTer?) c.1588del (p.Gln530ArgfsTer?) | gnomAD v3 gnomAD v4 |
3 | g.38603886G>A | CA72939164 | SCN5A | c.1716C>T (p.Ala572=) c.1587C>T (p.Ala529=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38603886G>C | CA433333098 | SCN5A | c.1716C>G (p.Ala572=) c.1587C>G (p.Ala529=) | |
3 | g.38603886G= | CA1358584943 | SCN5A | c.1716C= (p.Ala572=) c.1587C= (p.Ala529=) | |
3 | g.38603886G>T | CA433333099 | SCN5A | c.1716C>A (p.Ala572=) c.1587C>A (p.Ala529=) | |
3 | g.38603887G>A | CA015275 | SCN5A | c.1715C>T (p.Ala572Val) c.1586C>T (p.Ala529Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38603887G>C | CA72939170 | SCN5A | c.1715C>G (p.Ala572Gly) c.1586C>G (p.Ala529Gly) | ClinVar dbSNP gnomAD v4 |
3 | g.38603887G= | CA1358584945 | SCN5A | c.1715C= (p.Ala572=) c.1586C= (p.Ala529=) | |
3 | g.38603887G>T | CA015266 | SCN5A | c.1715C>A (p.Ala572Asp) c.1586C>A (p.Ala529Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38603887_38603888delinsAA | CA015243 | SCN5A | c.1714_1715delinsTT (p.Ala572Phe) c.1585_1586delinsTT (p.Ala529Phe) | ClinVar dbSNP |
3 | g.38603887_38603888delinsGC | CA1358584944 | SCN5A | c.1714_1715delinsGC (p.Ala572=) c.1585_1586delinsGC (p.Ala529=) | |
3 | g.38603888C>A | CA015256 | SCN5A | c.1714G>T (p.Ala572Ser) c.1585G>T (p.Ala529Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38603888C= | CA1358584946 | SCN5A | c.1714G= (p.Ala572=) c.1585G= (p.Ala529=) | |
3 | g.38603888C>G | CA352146560 | SCN5A | c.1714G>C (p.Ala572Pro) c.1585G>C (p.Ala529Pro) | gnomAD v4 |
3 | g.38603888C>T | CA352146556 | SCN5A | c.1714G>A (p.Ala572Thr) c.1585G>A (p.Ala529Thr) | gnomAD v4 |
3 | g.38603889A= | CA1358584947 | SCN5A | c.1713T= (p.Ser571=) c.1584T= (p.Ser528=) | |
3 | g.38603889A>C | CA352146564 | SCN5A | c.1713T>G (p.Ser571Arg) c.1584T>G (p.Ser528Arg) | |
3 | g.38603889A>G | CA058614 | SCN5A | c.1713T>C (p.Ser571=) c.1584T>C (p.Ser528=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.38603889A>T | CA352146567 | SCN5A | c.1713T>A (p.Ser571Arg) c.1584T>A (p.Ser528Arg) | |
3 | g.38603890C>A | CA015234 | SCN5A | c.1712G>T (p.Ser571Ile) c.1583G>T (p.Ser528Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38603890C= | CA1358584948 | SCN5A | c.1712G= (p.Ser571=) c.1583G= (p.Ser528=) | |
3 | g.38603890C>G | CA352146569 | SCN5A | c.1712G>C (p.Ser571Thr) c.1583G>C (p.Ser528Thr) | |
3 | g.38603890C>T | CA352146572 | SCN5A | c.1712G>A (p.Ser571Asn) c.1583G>A (p.Ser528Asn) | |
3 | g.38603890_38603891delinsCT | CA1358584949 | SCN5A | c.1711_1712delinsAG (p.Ser571=) c.1582_1583delinsAG (p.Ser528=) | |
3 | g.38603891del | CA015225 | SCN5A | c.1711del (p.Ser571ValfsTer?) c.1582del (p.Ser528ValfsTer?) | ClinVar dbSNP |
3 | g.38603891T>A | CA352146575 | SCN5A | c.1711A>T (p.Ser571Cys) c.1582A>T (p.Ser528Cys) | |
3 | g.38603891T>C | CA352146577 | SCN5A | c.1711A>G (p.Ser571Gly) c.1582A>G (p.Ser528Gly) | |
3 | g.38603891T>G | CA352146578 | SCN5A | c.1711A>C (p.Ser571Arg) c.1582A>C (p.Ser528Arg) | |
3 | g.38603892G>A | CA433333111 | SCN5A | c.1710C>T (p.Thr570=) c.1581C>T (p.Thr527=) | |
3 | g.38603892G>C | CA16611273 | SCN5A | c.1710C>G (p.Thr570=) c.1581C>G (p.Thr527=) | ClinVar dbSNP |
3 | g.38603892G= | CA1358584950 | SCN5A | c.1710C= (p.Thr570=) c.1581C= (p.Thr527=) | |
3 | g.38603892G>T | CA433333112 | SCN5A | c.1710C>A (p.Thr570=) c.1581C>A (p.Thr527=) | ClinVar dbSNP gnomAD v4 |
3 | g.38603893G>A | CA352146581 | SCN5A | c.1709C>T (p.Thr570Ile) c.1580C>T (p.Thr527Ile) | |
3 | g.38603893G>C | CA352146582 | SCN5A | c.1709C>G (p.Thr570Ser) c.1580C>G (p.Thr527Ser) | |
3 | g.38603893G= | CA1358584951 | SCN5A | c.1709C= (p.Thr570=) c.1580C= (p.Thr527=) | |
3 | g.38603893G>T | CA058593 | SCN5A | c.1709C>A (p.Thr570Asn) c.1580C>A (p.Thr527Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.38603894T>A | CA352146587 | SCN5A | c.1708A>T (p.Thr570Ser) c.1579A>T (p.Thr527Ser) | |
3 | g.38603894T>C | CA352146593 | SCN5A | c.1708A>G (p.Thr570Ala) c.1579A>G (p.Thr527Ala) | |
3 | g.38603894T>G | CA352146590 | SCN5A | c.1708A>C (p.Thr570Pro) c.1579A>C (p.Thr527Pro) | |
3 | g.38603895C>A | CA058580 | SCN5A | c.1707G>T (p.Arg569=) c.1578G>T (p.Arg526=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.38603895C= | CA1358584952 | SCN5A | c.1707G= (p.Arg569=) c.1578G= (p.Arg526=) | |
3 | g.38603895C>G | CA433333115 | SCN5A | c.1707G>C (p.Arg569=) c.1578G>C (p.Arg526=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.38603895C>T | CA433333117 | SCN5A | c.1707G>A (p.Arg569=) c.1578G>A (p.Arg526=) | gnomAD v4 |
3 | g.38603896C>A | CA352146597 | SCN5A | c.1706G>T (p.Arg569Leu) c.1577G>T (p.Arg526Leu) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.38603896C= | CA1358584953 | SCN5A | c.1706G= (p.Arg569=) c.1577G= (p.Arg526=) | |
3 | g.38603896C>G | CA352146600 | SCN5A | c.1706G>C (p.Arg569Pro) c.1577G>C (p.Arg526Pro) | |
3 | g.38603896C>T | CA015215 | SCN5A | c.1706G>A (p.Arg569Gln) c.1577G>A (p.Arg526Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
3 | g.38603897G>A | CA015203 | SCN5A | c.1705C>T (p.Arg569Trp) c.1576C>T (p.Arg526Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38603897G>C | CA015193 | SCN5A | c.1705C>G (p.Arg569Gly) c.1576C>G (p.Arg526Gly) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.38603897G= | CA1358584954 | SCN5A | c.1705C= (p.Arg569=) c.1576C= (p.Arg526=) | |
3 | g.38603897G>T | CA433333121 | SCN5A | c.1705C>A (p.Arg569=) c.1576C>A (p.Arg526=) | |
3 | g.38603898dup | CA2586971910 | SCN5A | c.1705dup (p.Arg569ProfsTer?) c.1576dup (p.Arg526ProfsTer?) |