Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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 |