| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.38603916dup | CA2990484004 | SCN5A | c.1687dup (p.Val563GlyfsTer?) c.1558dup (p.Val520GlyfsTer?) | |
| 3 | g.38603916C>A | CA433332986 | SCN5A | c.1686G>T (p.Leu562=) c.1557G>T (p.Leu519=) | |
| 3 | g.38603916C>G | CA433332988 | SCN5A | c.1686G>C (p.Leu562=) c.1557G>C (p.Leu519=) | |
| 3 | g.38603916C>T | CA433332992 | SCN5A | c.1686G>A (p.Leu562=) c.1557G>A (p.Leu519=) | |
| 3 | g.38603917A>C | CA352146727 | SCN5A | c.1685T>G (p.Leu562Arg) c.1556T>G (p.Leu519Arg) | |
| 3 | g.38603917A>G | CA352146731 | SCN5A | c.1685T>C (p.Leu562Pro) c.1556T>C (p.Leu519Pro) | gnomAD v4 |
| 3 | g.38603917A>T | CA352146729 | SCN5A | c.1685T>A (p.Leu562Gln) c.1556T>A (p.Leu519Gln) | |
| 3 | g.38603918G>A | CA433333007 | SCN5A | c.1684C>T (p.Leu562=) c.1555C>T (p.Leu519=) | dbSNP gnomAD v2 |
| 3 | g.38603918G>C | CA352146734 | SCN5A | c.1684C>G (p.Leu562Val) c.1555C>G (p.Leu519Val) | |
| 3 | g.38603918G= | CA1358584965 | SCN5A | c.1684C= (p.Leu562=) c.1555C= (p.Leu519=) | |
| 3 | g.38603918G>T | CA352146737 | SCN5A | c.1684C>A (p.Leu562Met) c.1555C>A (p.Leu519Met) | |
| 3 | g.38603919C>A | CA433333010 | SCN5A | c.1683G>T (p.Leu561=) c.1554G>T (p.Leu518=) | |
| 3 | g.38603919C= | CA1358584966 | SCN5A | c.1683G= (p.Leu561=) c.1554G= (p.Leu518=) | |
| 3 | g.38603919C>G | CA433333013 | SCN5A | c.1683G>C (p.Leu561=) c.1554G>C (p.Leu518=) | |
| 3 | g.38603919C>T | CA433333012 | SCN5A | c.1683G>A (p.Leu561=) c.1554G>A (p.Leu518=) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38603920A>C | CA352146740 | SCN5A | c.1682T>G (p.Leu561Arg) c.1553T>G (p.Leu518Arg) | |
| 3 | g.38603920A>G | CA352146742 | SCN5A | c.1682T>C (p.Leu561Pro) c.1553T>C (p.Leu518Pro) | |
| 3 | g.38603920A>T | CA352146745 | SCN5A | c.1682T>A (p.Leu561Gln) c.1553T>A (p.Leu518Gln) | |
| 3 | g.38603921G>A | CA015163 | SCN5A | c.1681C>T (p.Leu561=) c.1552C>T (p.Leu518=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38603921G>C | CA352146750 | SCN5A | c.1681C>G (p.Leu561Val) c.1552C>G (p.Leu518Val) | |
| 3 | g.38603921G= | CA1358584967 | SCN5A | c.1681C= (p.Leu561=) c.1552C= (p.Leu518=) | |
| 3 | g.38603921G>T | CA352146752 | SCN5A | c.1681C>A (p.Leu561Met) c.1552C>A (p.Leu518Met) | |
| 3 | g.38603922T>A | CA433333024 | SCN5A | c.1680A>T (p.Ser560=) c.1551A>T (p.Ser517=) | |
| 3 | g.38603922T>C | CA433333021 | SCN5A | c.1680A>G (p.Ser560=) c.1551A>G (p.Ser517=) | |
| 3 | g.38603922T>G | CA433333020 | SCN5A | c.1680A>C (p.Ser560=) c.1551A>C (p.Ser517=) | |
| 3 | g.38603923G>A | CA352146756 | SCN5A | c.1679C>T (p.Ser560Leu) c.1550C>T (p.Ser517Leu) | ClinVar |
| 3 | g.38603923G>C | CA352146759 | SCN5A | c.1679C>G (p.Ser560Ter) c.1550C>G (p.Ser517Ter) | ClinVar |
| 3 | g.38603923G>T | CA352146762 | SCN5A | c.1679C>A (p.Ser560Ter) c.1550C>A (p.Ser517Ter) | |
| 3 | g.38603924A>C | CA352146769 | SCN5A | c.1678T>G (p.Ser560Ala) c.1549T>G (p.Ser517Ala) | |
| 3 | g.38603924A>G | CA352146766 | SCN5A | c.1678T>C (p.Ser560Pro) c.1549T>C (p.Ser517Pro) | |
| 3 | g.38603924A>T | CA352146765 | SCN5A | c.1678T>A (p.Ser560Thr) c.1549T>A (p.Ser517Thr) | |
| 3 | g.38603925T>A | CA433333037 | SCN5A | c.1677A>T (p.Thr559=) c.1548A>T (p.Thr516=) | |
| 3 | g.38603925T>C | CA72939197 | SCN5A | c.1677A>G (p.Thr559=) c.1548A>G (p.Thr516=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38603925T>G | CA433333038 | SCN5A | c.1677A>C (p.Thr559=) c.1548A>C (p.Thr516=) | |
| 3 | g.38603925T= | CA1358584968 | SCN5A | c.1677A= (p.Thr559=) c.1548A= (p.Thr516=) | |
| 3 | g.38603926G>A | CA015154 | SCN5A | c.1676C>T (p.Thr559Ile) c.1547C>T (p.Thr516Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38603926G>C | CA058488 | SCN5A | c.1676C>G (p.Thr559Arg) c.1547C>G (p.Thr516Arg) | dbSNP ExAC gnomAD v4 |
| 3 | g.38603926G= | CA1358584969 | SCN5A | c.1676C= (p.Thr559=) c.1547C= (p.Thr516=) | |
| 3 | g.38603926G>T | CA352146777 | SCN5A | c.1676C>A (p.Thr559Lys) c.1547C>A (p.Thr516Lys) | ClinVar dbSNP |
| 3 | g.38603927T>A | CA352146781 | SCN5A | c.1675A>T (p.Thr559Ser) c.1546A>T (p.Thr516Ser) | |
| 3 | g.38603927T>C | CA352146782 | SCN5A | c.1675A>G (p.Thr559Ala) c.1546A>G (p.Thr516Ala) | |
| 3 | g.38603927T>G | CA352146784 | SCN5A | c.1675A>C (p.Thr559Pro) c.1546A>C (p.Thr516Pro) | dbSNP |
| 3 | g.38603927T= | CA1358584970 | SCN5A | c.1675A= (p.Thr559=) c.1546A= (p.Thr516=) | |
| 3 | g.38603928G>A | CA433333049 | SCN5A | c.1674C>T (p.His558=) c.1545C>T (p.His515=) | |
| 3 | g.38603928G>C | CA352146786 | SCN5A | c.1674C>G (p.His558Gln) c.1545C>G (p.His515Gln) | ClinVar dbSNP |
| 3 | g.38603928G= | CA1358584971 | SCN5A | c.1674C= (p.His558=) c.1545C= (p.His515=) | |
| 3 | g.38603928G>T | CA352146788 | SCN5A | c.1674C>A (p.His558Gln) c.1545C>A (p.His515Gln) | |
| 3 | g.38603929T>A | CA352146790 | SCN5A | c.1673A>T (p.His558Leu) c.1544A>T (p.His515Leu) | |
| 3 | g.38603929T>C | CA015145 | SCN5A | c.1673A>G (p.His558Arg) c.1544A>G (p.His515Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.[38603929T>C;38604067G>A] | CA085349 | SCN5A | c.[1535C>T;1673A>G] (p.[Thr512Ile;His558Arg]) c.[1406C>T;1544A>G] (p.[Thr469Ile;His515Arg]) |