| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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) | ClinVar 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.38603834del | CA2990483997 | SCN5A | c.1772del (p.Lys591ArgfsTer?) c.1643del (p.Lys548ArgfsTer?) | |
| 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) | ClinVar |
| 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=) |