UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.38603911G>A | CA352146684 | SCN5A | c.1691C>T (p.Pro564Leu) c.1562C>T (p.Pro521Leu) | |
| 3 | g.38603911G>C | CA352146686 | SCN5A | c.1691C>G (p.Pro564Arg) c.1562C>G (p.Pro521Arg) | |
| 3 | g.38603911G>T | CA352146689 | SCN5A | c.1691C>A (p.Pro564His) c.1562C>A (p.Pro521His) | |
| 3 | g.38603912G>A | CA352146692 | SCN5A | c.1690C>T (p.Pro564Ser) c.1561C>T (p.Pro521Ser) | ClinVar dbSNP |
| 3 | g.38603912G>C | CA352146703 | SCN5A | c.1690C>G (p.Pro564Ala) c.1561C>G (p.Pro521Ala) | |
| 3 | g.38603912G= | CA1358584963 | SCN5A | c.1690C= (p.Pro564=) c.1561C= (p.Pro521=) | |
| 3 | g.38603912G>T | CA352146706 | SCN5A | c.1690C>A (p.Pro564Thr) c.1561C>A (p.Pro521Thr) | |
| 3 | g.38603913C>A | CA433332971 | SCN5A | c.1689G>T (p.Val563=) c.1560G>T (p.Val520=) | |
| 3 | g.38603913C>G | CA433332972 | SCN5A | c.1689G>C (p.Val563=) c.1560G>C (p.Val520=) | |
| 3 | g.38603913C>T | CA433332973 | SCN5A | c.1689G>A (p.Val563=) c.1560G>A (p.Val520=) | gnomAD v4 |
| 3 | g.38603914A= | CA1358584964 | SCN5A | c.1688T= (p.Val563=) c.1559T= (p.Val520=) | |
| 3 | g.38603914A>C | CA352146709 | SCN5A | c.1688T>G (p.Val563Gly) c.1559T>G (p.Val520Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38603914A>G | CA352146712 | SCN5A | c.1688T>C (p.Val563Ala) c.1559T>C (p.Val520Ala) | |
| 3 | g.38603914A>T | CA352146714 | SCN5A | c.1688T>A (p.Val563Glu) c.1559T>A (p.Val520Glu) | |
| 3 | g.38603915C>A | CA352146717 | SCN5A | c.1687G>T (p.Val563Leu) c.1558G>T (p.Val520Leu) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38603915C>G | CA352146720 | SCN5A | c.1687G>C (p.Val563Leu) c.1558G>C (p.Val520Leu) | gnomAD v4 |
| 3 | g.38603915C>T | CA352146722 | SCN5A | c.1687G>A (p.Val563Met) c.1558G>A (p.Val520Met) | |
| 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) | 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]) | ClinVar |
| 3 | g.38603929T>G | CA352146796 | SCN5A | c.1673A>C (p.His558Pro) c.1544A>C (p.His515Pro) | |
| 3 | g.38603929T= | CA1358584972 | SCN5A | c.1673A= (p.His558=) c.1544A= (p.His515=) | |
| 3 | g.38603929_38603930delinsCA | CA1139655765 | SCN5A | c.1672_1673delinsTG (p.His558Cys) c.1543_1544delinsTG (p.His515Cys) | ClinVar |
| 3 | g.38603930G>A | CA72939207 | SCN5A | c.1672C>T (p.His558Tyr) c.1543C>T (p.His515Tyr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38603930G>C | CA352146802 | SCN5A | c.1672C>G (p.His558Asp) c.1543C>G (p.His515Asp) | |
| 3 | g.38603930G= | CA1358584973 | SCN5A | c.1672C= (p.His558=) c.1543C= (p.His515=) | |
| 3 | g.38603930G>T | CA352146799 | SCN5A | c.1672C>A (p.His558Asn) c.1543C>A (p.His515Asn) | |
| 3 | g.38603931del | CA2586971911 | SCN5A | c.1672del (p.His558ThrfsTer?) c.1543del (p.His515ThrfsTer?) | gnomAD v4 |
| 3 | g.38603931G>A | CA433333057 | SCN5A | c.1671C>T (p.His557=) c.1542C>T (p.His514=) | gnomAD v4 |
| 3 | g.38603931G>C | CA058476 | SCN5A | c.1671C>G (p.His557Gln) c.1542C>G (p.His514Gln) | ClinVar dbSNP ExAC gnomAD v2 |
| 3 | g.38603931G= | CA1358584974 | SCN5A | c.1671C= (p.His557=) c.1542C= (p.His514=) | |
| 3 | g.38603931G>T | CA352146807 | SCN5A | c.1671C>A (p.His557Gln) c.1542C>A (p.His514Gln) | |
| 3 | g.38603932T>A | CA352146809 | SCN5A | c.1670A>T (p.His557Leu) c.1541A>T (p.His514Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38603932T>C | CA72939214 | SCN5A | c.1670A>G (p.His557Arg) c.1541A>G (p.His514Arg) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38603932T>G | CA352146813 | SCN5A | c.1670A>C (p.His557Pro) c.1541A>C (p.His514Pro) | |
| 3 | g.38603932T= | CA1358584975 | SCN5A | c.1670A= (p.His557=) c.1541A= (p.His514=) | |
| 3 | g.38603933G>A | CA058468 | SCN5A | c.1669C>T (p.His557Tyr) c.1540C>T (p.His514Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38603933G>C | CA352146817 | SCN5A | c.1669C>G (p.His557Asp) c.1540C>G (p.His514Asp) | |
| 3 | g.38603933G= | CA1358584976 | SCN5A | c.1669C= (p.His557=) c.1540C= (p.His514=) | |
| 3 | g.38603933G>T | CA352146819 | SCN5A | c.1669C>A (p.His557Asn) c.1540C>A (p.His514Asn) | |
| 3 | g.38603934G>A | CA433333073 | SCN5A | c.1668C>T (p.Ser556=) c.1539C>T (p.Ser513=) | |
| 3 | g.38603934G>C | CA352146821 | SCN5A | c.1668C>G (p.Ser556Arg) c.1539C>G (p.Ser513Arg) | |
| 3 | g.38603934G>T | CA352146824 | SCN5A | c.1668C>A (p.Ser556Arg) c.1539C>A (p.Ser513Arg) | |
| 3 | g.38603940_38603945del | CA2665114732 | SCN5A | c.1663_1668del (p.Glu555_Ser556del) c.1534_1539del (p.Glu512_Ser513del) | gnomAD v4 |
| 3 | g.38603935C>A | CA352146827 | SCN5A | c.1667G>T (p.Ser556Ile) c.1538G>T (p.Ser513Ile) | |
| 3 | g.38603935C= | CA1358584977 | SCN5A | c.1667G= (p.Ser556=) c.1538G= (p.Ser513=) | |
| 3 | g.38603935C>G | CA352146829 | SCN5A | c.1667G>C (p.Ser556Thr) c.1538G>C (p.Ser513Thr) | |
| 3 | g.38603935C>T | CA352146831 | SCN5A | c.1667G>A (p.Ser556Asn) c.1538G>A (p.Ser513Asn) | dbSNP |
| 3 | g.38603936T>A | CA352146846 | SCN5A | c.1666A>T (p.Ser556Cys) c.1537A>T (p.Ser513Cys) | |
| 3 | g.38603936T>C | CA352146844 | SCN5A | c.1666A>G (p.Ser556Gly) c.1537A>G (p.Ser513Gly) | |
| 3 | g.38603936T>G | CA352146834 | SCN5A | c.1666A>C (p.Ser556Arg) c.1537A>C (p.Ser513Arg) | |
| 3 | g.38603937C>A | CA352146848 | SCN5A | c.1665G>T (p.Glu555Asp) c.1536G>T (p.Glu512Asp) | |
| 3 | g.38603937C>G | CA352146851 | SCN5A | c.1665G>C (p.Glu555Asp) c.1536G>C (p.Glu512Asp) | |
| 3 | g.38603937C>T | CA433333083 | SCN5A | c.1665G>A (p.Glu555=) c.1536G>A (p.Glu512=) | |
| 3 | g.38603938T>A | CA352146856 | SCN5A | c.1664A>T (p.Glu555Val) c.1535A>T (p.Glu512Val) | |
| 3 | g.38603938T>C | CA352146860 | SCN5A | c.1664A>G (p.Glu555Gly) c.1535A>G (p.Glu512Gly) | |
| 3 | g.38603938T>G | CA352146863 | SCN5A | c.1664A>C (p.Glu555Ala) c.1535A>C (p.Glu512Ala) | |
| 3 | g.38603939C>A | CA352146874 | SCN5A | c.1663G>T (p.Glu555Ter) c.1534G>T (p.Glu512Ter) | dbSNP |
| 3 | g.38603939C= | CA1358584978 | SCN5A | c.1663G= (p.Glu555=) c.1534G= (p.Glu512=) | |
| 3 | g.38603939C>G | CA352146876 | SCN5A | c.1663G>C (p.Glu555Gln) c.1534G>C (p.Glu512Gln) | |
| 3 | g.38603939C>T | CA015137 | SCN5A | c.1663G>A (p.Glu555Lys) c.1534G>A (p.Glu512Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.38603939dup | CA2586971912 | SCN5A | c.1663dup (p.Glu555GlyfsTer?) c.1534dup (p.Glu512GlyfsTer?) | |
| 3 | g.38603940G>A | CA058453 | SCN5A | c.1662C>T (p.Ser554=) c.1533C>T (p.Ser511=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38603940G>C | CA352146889 | SCN5A | c.1662C>G (p.Ser554Arg) c.1533C>G (p.Ser511Arg) | ClinVar dbSNP |
| 3 | g.38603940G= | CA1358584979 | SCN5A | c.1662C= (p.Ser554=) c.1533C= (p.Ser511=) | |
| 3 | g.38603940G>T | CA352146891 | SCN5A | c.1662C>A (p.Ser554Arg) c.1533C>A (p.Ser511Arg) | |
| 3 | g.38603941C>A | CA72939224 | SCN5A | c.1661G>T (p.Ser554Ile) c.1532G>T (p.Ser511Ile) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38603941C= | CA1358584980 | SCN5A | c.1661G= (p.Ser554=) c.1532G= (p.Ser511=) | |
| 3 | g.38603941C>G | CA352146897 | SCN5A | c.1661G>C (p.Ser554Thr) c.1532G>C (p.Ser511Thr) | |
| 3 | g.38603941C>T | CA352146900 | SCN5A | c.1661G>A (p.Ser554Asn) c.1532G>A (p.Ser511Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38603942T>A | CA352146907 | SCN5A | c.1660A>T (p.Ser554Cys) c.1531A>T (p.Ser511Cys) | |
| 3 | g.38603942T>C | CA352146909 | SCN5A | c.1660A>G (p.Ser554Gly) c.1531A>G (p.Ser511Gly) | |
| 3 | g.38603942T>G | CA352146904 | SCN5A | c.1660A>C (p.Ser554Arg) c.1531A>C (p.Ser511Arg) | |
| 3 | g.38603943C>A | CA352146912 | SCN5A | c.1659G>T (p.Glu553Asp) c.1530G>T (p.Glu510Asp) | gnomAD v4 |
| 3 | g.38603943C= | CA1358584981 | SCN5A | c.1659G= (p.Glu553=) c.1530G= (p.Glu510=) | |
| 3 | g.38603943C>G | CA352146914 | SCN5A | c.1659G>C (p.Glu553Asp) c.1530G>C (p.Glu510Asp) | |
| 3 | g.38603943C>T | CA015130 | SCN5A | c.1659G>A (p.Glu553=) c.1530G>A (p.Glu510=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38603944T>A | CA352146919 | SCN5A | c.1658A>T (p.Glu553Val) c.1529A>T (p.Glu510Val) | ClinVar dbSNP |
| 3 | g.38603944T>C | CA352146921 | SCN5A | c.1658A>G (p.Glu553Gly) c.1529A>G (p.Glu510Gly) | |
| 3 | g.38603944T>G | CA352146924 | SCN5A | c.1658A>C (p.Glu553Ala) c.1529A>C (p.Glu510Ala) | |
| 3 | g.38603944T= | CA1358584982 | SCN5A | c.1658A= (p.Glu553=) c.1529A= (p.Glu510=) | |
| 3 | g.38603945C>A | CA352146926 | SCN5A | c.1657G>T (p.Glu553Ter) c.1528G>T (p.Glu510Ter) | ClinVar dbSNP |
| 3 | g.38603945C= | CA1358584983 | SCN5A | c.1657G= (p.Glu553=) c.1528G= (p.Glu510=) | |
| 3 | g.38603945C>G | CA352146928 | SCN5A | c.1657G>C (p.Glu553Gln) c.1528G>C (p.Glu510Gln) | |
| 3 | g.38603945C>T | CA352146931 | SCN5A | c.1657G>A (p.Glu553Lys) c.1528G>A (p.Glu510Lys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38603946C>A | CA433333103 | SCN5A | c.1656G>T (p.Gly552=) c.1527G>T (p.Gly509=) | |
| 3 | g.38603946C= | CA1358584984 | SCN5A | c.1656G= (p.Gly552=) c.1527G= (p.Gly509=) | |
| 3 | g.38603946C>G | CA433333105 | SCN5A | c.1656G>C (p.Gly552=) c.1527G>C (p.Gly509=) | gnomAD v4 |
| 3 | g.38603946C>T | CA433333104 | SCN5A | c.1656G>A (p.Gly552=) c.1527G>A (p.Gly509=) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38603947C>A | CA352146933 | SCN5A | c.1655G>T (p.Gly552Val) c.1526G>T (p.Gly509Val) | COSMIC COSMIC COSMIC |
| 3 | g.38603947C>G | CA352146935 | SCN5A | c.1655G>C (p.Gly552Ala) c.1526G>C (p.Gly509Ala) | |
| 3 | g.38603947C>T | CA352146938 | SCN5A | c.1655G>A (p.Gly552Glu) c.1526G>A (p.Gly509Glu) | gnomAD v4 |
| 3 | g.38603948C>A | CA015121 | SCN5A | c.1654G>T (p.Gly552Trp) c.1525G>T (p.Gly509Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38603948C= | CA1358584985 | SCN5A | c.1654G= (p.Gly552=) c.1525G= (p.Gly509=) | |
| 3 | g.38603948C>G | CA058435 | SCN5A | c.1654G>C (p.Gly552Arg) c.1525G>C (p.Gly509Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38603948C>T | CA015113 | SCN5A | c.1654G>A (p.Gly552Arg) c.1525G>A (p.Gly509Arg) | ClinVar dbSNP |
| 3 | g.38603949C>A | CA433333114 | SCN5A | c.1653G>T (p.Ala551=) c.1524G>T (p.Ala508=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38603949C= | CA1358584986 | SCN5A | c.1653G= (p.Ala551=) c.1524G= (p.Ala508=) | |
| 3 | g.38603949C>G | CA433333113 | SCN5A | c.1653G>C (p.Ala551=) c.1524G>C (p.Ala508=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38603949C>T | CA015103 | SCN5A | c.1653G>A (p.Ala551=) c.1524G>A (p.Ala508=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.38603950del | CA2580069752 | SCN5A | c.1652del (p.Ala551GlyfsTer?) c.1523del (p.Ala508GlyfsTer?) | ClinVar |
| 3 | g.38603950G>A | CA015094 | SCN5A | c.1652C>T (p.Ala551Val) c.1523C>T (p.Ala508Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38603950G>C | CA352146950 | SCN5A | c.1652C>G (p.Ala551Gly) c.1523C>G (p.Ala508Gly) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38603950G= | CA1358584987 | SCN5A | c.1652C= (p.Ala551=) c.1523C= (p.Ala508=) | |
| 3 | g.38603950G>T | CA352146953 | SCN5A | c.1652C>A (p.Ala551Glu) c.1523C>A (p.Ala508Glu) | ClinVar dbSNP |
| 3 | g.38603951C>A | CA352146956 | SCN5A | c.1651G>T (p.Ala551Ser) c.1522G>T (p.Ala508Ser) | |
| 3 | g.38603951C= | CA1358584988 | SCN5A | c.1651G= (p.Ala551=) c.1522G= (p.Ala508=) | |
| 3 | g.38603951C>G | CA352146959 | SCN5A | c.1651G>C (p.Ala551Pro) c.1522G>C (p.Ala508Pro) | |
| 3 | g.38603951C>T | CA015086 | SCN5A | c.1651G>A (p.Ala551Thr) c.1522G>A (p.Ala508Thr) | ClinVar dbSNP |
| 3 | g.38603952T>A | CA433333118 | SCN5A | c.1650A>T (p.Thr550=) c.1521A>T (p.Thr507=) | |
| 3 | g.38603952T>C | CA433333120 | SCN5A | c.1650A>G (p.Thr550=) c.1521A>G (p.Thr507=) | |
| 3 | g.38603952T>G | CA433333119 | SCN5A | c.1650A>C (p.Thr550=) c.1521A>C (p.Thr507=) | |
| 3 | g.38603953G>A | CA352146965 | SCN5A | c.1649C>T (p.Thr550Ile) c.1520C>T (p.Thr507Ile) | ClinVar gnomAD v4 |
| 3 | g.38603953G>C | CA352146967 | SCN5A | c.1649C>G (p.Thr550Arg) c.1520C>G (p.Thr507Arg) | |
| 3 | g.38603953G= | CA1358584989 | SCN5A | c.1649C= (p.Thr550=) c.1520C= (p.Thr507=) | |
| 3 | g.38603953G>T | CA352146970 | SCN5A | c.1649C>A (p.Thr550Lys) c.1520C>A (p.Thr507Lys) | |
| 3 | g.38603954T>A | CA352146974 | SCN5A | c.1648A>T (p.Thr550Ser) c.1519A>T (p.Thr507Ser) | |
| 3 | g.38603954T>C | CA352146976 | SCN5A | c.1648A>G (p.Thr550Ala) c.1519A>G (p.Thr507Ala) | |
| 3 | g.38603954T>G | CA352146978 | SCN5A | c.1648A>C (p.Thr550Pro) c.1519A>C (p.Thr507Pro) | ClinVar dbSNP |
| 3 | g.38603955G>A | CA433333125 | SCN5A | c.1647C>T (p.Ser549=) c.1518C>T (p.Ser506=) | |
| 3 | g.38603955G>C | CA352146981 | SCN5A | c.1647C>G (p.Ser549Arg) c.1518C>G (p.Ser506Arg) | |
| 3 | g.38603955G>T | CA352146984 | SCN5A | c.1647C>A (p.Ser549Arg) c.1518C>A (p.Ser506Arg) | ClinVar |
| 3 | g.38603956C>A | CA352146988 | SCN5A | c.1646G>T (p.Ser549Ile) c.1517G>T (p.Ser506Ile) | |
| 3 | g.38603956C>G | CA352146993 | SCN5A | c.1646G>C (p.Ser549Thr) c.1517G>C (p.Ser506Thr) | |
| 3 | g.38603956C>T | CA352146991 | SCN5A | c.1646G>A (p.Ser549Asn) c.1517G>A (p.Ser506Asn) | |
| 3 | g.38603957T>A | CA352146996 | SCN5A | c.1645A>T (p.Ser549Cys) c.1516A>T (p.Ser506Cys) | |
| 3 | g.38603957T>C | CA352146997 | SCN5A | c.1645A>G (p.Ser549Gly) c.1516A>G (p.Ser506Gly) | |
| 3 | g.38603957T>G | CA352147000 | SCN5A | c.1645A>C (p.Ser549Arg) c.1516A>C (p.Ser506Arg) | |
| 3 | g.38603958G>A | CA433333133 | SCN5A | c.1644C>T (p.Asn548=) c.1515C>T (p.Asn505=) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38603958G>C | CA352147002 | SCN5A | c.1644C>G (p.Asn548Lys) c.1515C>G (p.Asn505Lys) | |
| 3 | g.38603958G= | CA1358584990 | SCN5A | c.1644C= (p.Asn548=) c.1515C= (p.Asn505=) | |
| 3 | g.38603958G>T | CA352147005 | SCN5A | c.1644C>A (p.Asn548Lys) c.1515C>A (p.Asn505Lys) | |
| 3 | g.38603959T>A | CA352147006 | SCN5A | c.1643A>T (p.Asn548Ile) c.1514A>T (p.Asn505Ile) | |
| 3 | g.38603959T>C | CA352147007 | SCN5A | c.1643A>G (p.Asn548Ser) c.1514A>G (p.Asn505Ser) | |
| 3 | g.38603959T>G | CA352147008 | SCN5A | c.1643A>C (p.Asn548Thr) c.1514A>C (p.Asn505Thr) | |
| 3 | g.38603960T>A | CA352147009 | SCN5A | c.1642A>T (p.Asn548Tyr) c.1513A>T (p.Asn505Tyr) | |
| 3 | g.38603960T>C | CA352147010 | SCN5A | c.1642A>G (p.Asn548Asp) c.1513A>G (p.Asn505Asp) | |
| 3 | g.38603960T>G | CA352147012 | SCN5A | c.1642A>C (p.Asn548His) c.1513A>C (p.Asn505His) | |
| 3 | g.38603961T>A | CA352147016 | SCN5A | c.1641A>T (p.Glu547Asp) c.1512A>T (p.Glu504Asp) | |
| 3 | g.38603961T>C | CA058417 | SCN5A | c.1641A>G (p.Glu547=) c.1512A>G (p.Glu504=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38603961T>G | CA352147014 | SCN5A | c.1641A>C (p.Glu547Asp) c.1512A>C (p.Glu504Asp) | |
| 3 | g.38603961T= | CA1358584991 | SCN5A | c.1641A= (p.Glu547=) c.1512A= (p.Glu504=) | |
| 3 | g.38603962T>A | CA352147019 | SCN5A | c.1640A>T (p.Glu547Val) c.1511A>T (p.Glu504Val) | dbSNP |
| 3 | g.38603962T>C | CA352147022 | SCN5A | c.1640A>G (p.Glu547Gly) c.1511A>G (p.Glu504Gly) | |
| 3 | g.38603962T>G | CA352147024 | SCN5A | c.1640A>C (p.Glu547Ala) c.1511A>C (p.Glu504Ala) | |
| 3 | g.38603962T= | CA1358584992 | SCN5A | c.1640A= (p.Glu547=) c.1511A= (p.Glu504=) | |
| 3 | g.38603963C>A | CA352147027 | SCN5A | c.1639G>T (p.Glu547Ter) c.1510G>T (p.Glu504Ter) | dbSNP |
| 3 | g.38603963C= | CA1358584993 | SCN5A | c.1639G= (p.Glu547=) c.1510G= (p.Glu504=) | |
| 3 | g.38603963C>G | CA352147030 | SCN5A | c.1639G>C (p.Glu547Gln) c.1510G>C (p.Glu504Gln) | |
| 3 | g.38603963C>T | CA352147033 | SCN5A | c.1639G>A (p.Glu547Lys) c.1510G>A (p.Glu504Lys) | COSMIC COSMIC COSMIC |
| 3 | g.38603964A= | CA1358584994 | SCN5A | c.1638T= (p.Asp546=) c.1509T= (p.Asp503=) | |
| 3 | g.38603964A>C | CA352147037 | SCN5A | c.1638T>G (p.Asp546Glu) c.1509T>G (p.Asp503Glu) | |
| 3 | g.38603964A>G | CA058403 | SCN5A | c.1638T>C (p.Asp546=) c.1509T>C (p.Asp503=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38603964A>T | CA352147042 | SCN5A | c.1638T>A (p.Asp546Glu) c.1509T>A (p.Asp503Glu) | |
| 3 | g.38603965T>A | CA352147045 | SCN5A | c.1637A>T (p.Asp546Val) c.1508A>T (p.Asp503Val) | gnomAD v4 |
| 3 | g.38603965T>C | CA352147047 | SCN5A | c.1637A>G (p.Asp546Gly) c.1508A>G (p.Asp503Gly) | gnomAD v4 |
| 3 | g.38603965T>G | CA352147050 | SCN5A | c.1637A>C (p.Asp546Ala) c.1508A>C (p.Asp503Ala) | |
| 3 | g.38603965_38603966delinsAA | CA2697550834 | SCN5A | c.1636_1637delinsTT (p.Asp546Phe) c.1507_1508delinsTT (p.Asp503Phe) | ClinVar |
| 3 | g.38603966C>A | CA352147058 | SCN5A | c.1636G>T (p.Asp546Tyr) c.1507G>T (p.Asp503Tyr) | |
| 3 | g.38603966C>G | CA352147056 | SCN5A | c.1636G>C (p.Asp546His) c.1507G>C (p.Asp503His) | |
| 3 | g.38603966C>T | CA352147053 | SCN5A | c.1636G>A (p.Asp546Asn) c.1507G>A (p.Asp503Asn) | |
| 3 | g.38603967A>C | CA352147063 | SCN5A | c.1635T>G (p.Asp545Glu) c.1506T>G (p.Asp502Glu) | |
| 3 | g.38603967A>G | CA433333138 | SCN5A | c.1635T>C (p.Asp545=) c.1506T>C (p.Asp502=) | gnomAD v4 |
| 3 | g.38603967A>T | CA352147062 | SCN5A | c.1635T>A (p.Asp545Glu) c.1506T>A (p.Asp502Glu) | |
| 3 | g.38603968T>A | CA352147064 | SCN5A | c.1634A>T (p.Asp545Val) c.1505A>T (p.Asp502Val) | ClinVar |
| 3 | g.38603968T>C | CA352147066 | SCN5A | c.1634A>G (p.Asp545Gly) c.1505A>G (p.Asp502Gly) | |
| 3 | g.38603968T>G | CA352147069 | SCN5A | c.1634A>C (p.Asp545Ala) c.1505A>C (p.Asp502Ala) | |
| 3 | g.38603969C>A | CA352147073 | SCN5A | c.1633G>T (p.Asp545Tyr) c.1504G>T (p.Asp502Tyr) | |
| 3 | g.38603969C>G | CA352147075 | SCN5A | c.1633G>C (p.Asp545His) c.1504G>C (p.Asp502His) | |
| 3 | g.38603969C>T | CA352147077 | SCN5A | c.1633G>A (p.Asp545Asn) c.1504G>A (p.Asp502Asn) | |
| 3 | g.38603970T>A | CA433333143 | SCN5A | c.1632A>T (p.Ala544=) c.1503A>T (p.Ala501=) | |
| 3 | g.38603970T>C | CA433333144 | SCN5A | c.1632A>G (p.Ala544=) c.1503A>G (p.Ala501=) | |
| 3 | g.38603970T>G | CA433333145 | SCN5A | c.1632A>C (p.Ala544=) c.1503A>C (p.Ala501=) | |
| 3 | g.38603971G>A | CA352147079 | SCN5A | c.1631C>T (p.Ala544Val) c.1502C>T (p.Ala501Val) | |
| 3 | g.38603971G>C | CA352147080 | SCN5A | c.1631C>G (p.Ala544Gly) c.1502C>G (p.Ala501Gly) | |
| 3 | g.38603971G>T | CA352147082 | SCN5A | c.1631C>A (p.Ala544Glu) c.1502C>A (p.Ala501Glu) | |
| 3 | g.38603972C>A | CA352147083 | SCN5A | c.1630G>T (p.Ala544Ser) c.1501G>T (p.Ala501Ser) | |
| 3 | g.38603972C>G | CA352147085 | SCN5A | c.1630G>C (p.Ala544Pro) c.1501G>C (p.Ala501Pro) | |
| 3 | g.38603972C>T | CA352147087 | SCN5A | c.1630G>A (p.Ala544Thr) c.1501G>A (p.Ala501Thr) | |
| 3 | g.38603973A= | CA1358584995 | SCN5A | c.1629T= (p.Phe543=) c.1500T= (p.Phe500=) | |
| 3 | g.38603973A>C | CA352147091 | SCN5A | c.1629T>G (p.Phe543Leu) c.1500T>G (p.Phe500Leu) | |
| 3 | g.38603973A>G | CA433333148 | SCN5A | c.1629T>C (p.Phe543=) c.1500T>C (p.Phe500=) | |
| 3 | g.38603973A>T | CA015078 | SCN5A | c.1629T>A (p.Phe543Leu) c.1500T>A (p.Phe500Leu) | ClinVar dbSNP |
| 3 | g.38603974A>C | CA352147094 | SCN5A | c.1628T>G (p.Phe543Cys) c.1499T>G (p.Phe500Cys) | |
| 3 | g.38603974A>G | CA352147095 | SCN5A | c.1628T>C (p.Phe543Ser) c.1499T>C (p.Phe500Ser) | ClinVar dbSNP |
| 3 | g.38603974A>T | CA352147097 | SCN5A | c.1628T>A (p.Phe543Tyr) c.1499T>A (p.Phe500Tyr) | |
| 3 | g.38603975A>C | CA352147099 | SCN5A | c.1627T>G (p.Phe543Val) c.1498T>G (p.Phe500Val) | |
| 3 | g.38603975A>G | CA352147101 | SCN5A | c.1627T>C (p.Phe543Leu) c.1498T>C (p.Phe500Leu) | |
| 3 | g.38603975A>T | CA352147103 | SCN5A | c.1627T>A (p.Phe543Ile) c.1498T>A (p.Phe500Ile) | |
| 3 | g.38603976A>C | CA352147106 | SCN5A | c.1626T>G (p.Asp542Glu) c.1497T>G (p.Asp499Glu) | |
| 3 | g.38603976A>G | CA433333150 | SCN5A | c.1626T>C (p.Asp542=) c.1497T>C (p.Asp499=) | ClinVar gnomAD v4 |
| 3 | g.38603976A>T | CA352147109 | SCN5A | c.1626T>A (p.Asp542Glu) c.1497T>A (p.Asp499Glu) | |
| 3 | g.38603977T>A | CA352147112 | SCN5A | c.1625A>T (p.Asp542Val) c.1496A>T (p.Asp499Val) | gnomAD v4 |
| 3 | g.38603977T>C | CA352147113 | SCN5A | c.1625A>G (p.Asp542Gly) c.1496A>G (p.Asp499Gly) | |
| 3 | g.38603977T>G | CA352147116 | SCN5A | c.1625A>C (p.Asp542Ala) c.1496A>C (p.Asp499Ala) | |
| 3 | g.38603978C>A | CA352147120 | SCN5A | c.1624G>T (p.Asp542Tyr) c.1495G>T (p.Asp499Tyr) | |
| 3 | g.38603978C>G | CA352147123 | SCN5A | c.1624G>C (p.Asp542His) c.1495G>C (p.Asp499His) | |
| 3 | g.38603978C>T | CA352147124 | SCN5A | c.1624G>A (p.Asp542Asn) c.1495G>A (p.Asp499Asn) | gnomAD v4 |
| 3 | g.38603979T>A | CA433333152 | SCN5A | c.1623A>T (p.Ala541=) c.1494A>T (p.Ala498=) | |
| 3 | g.38603979T>C | CA433333153 | SCN5A | c.1623A>G (p.Ala541=) c.1494A>G (p.Ala498=) | |
| 3 | g.38603979T>G | CA433333154 | SCN5A | c.1623A>C (p.Ala541=) c.1494A>C (p.Ala498=) | |
| 3 | g.38603980G>A | CA352147129 | SCN5A | c.1622C>T (p.Ala541Val) c.1493C>T (p.Ala498Val) | |
| 3 | g.38603980G>C | CA352147131 | SCN5A | c.1622C>G (p.Ala541Gly) c.1493C>G (p.Ala498Gly) | |
| 3 | g.38603980G>T | CA352147128 | SCN5A | c.1622C>A (p.Ala541Glu) c.1493C>A (p.Ala498Glu) | gnomAD v4 |
| 3 | g.38603981C>A | CA352147133 | SCN5A | c.1621G>T (p.Ala541Ser) c.1492G>T (p.Ala498Ser) | |
| 3 | g.38603981C>G | CA352147139 | SCN5A | c.1621G>C (p.Ala541Pro) c.1492G>C (p.Ala498Pro) | gnomAD v4 |
| 3 | g.38603981C>T | CA352147135 | SCN5A | c.1621G>A (p.Ala541Thr) c.1492G>A (p.Ala498Thr) | ClinVar |
| 3 | g.38603982T>A | CA352147142 | SCN5A | c.1620A>T (p.Glu540Asp) c.1491A>T (p.Glu497Asp) | |
| 3 | g.38603982T>C | CA433333156 | SCN5A | c.1620A>G (p.Glu540=) c.1491A>G (p.Glu497=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38603982T>G | CA352147145 | SCN5A | c.1620A>C (p.Glu540Asp) c.1491A>C (p.Glu497Asp) | |
| 3 | g.38603983T>A | CA352147147 | SCN5A | c.1619A>T (p.Glu540Val) c.1490A>T (p.Glu497Val) | |
| 3 | g.38603983T>C | CA352147148 | SCN5A | c.1619A>G (p.Glu540Gly) c.1490A>G (p.Glu497Gly) | |
| 3 | g.38603983T>G | CA352147150 | SCN5A | c.1619A>C (p.Glu540Ala) c.1490A>C (p.Glu497Ala) | |
| 3 | g.38603984C>A | CA352147152 | SCN5A | c.1618G>T (p.Glu540Ter) c.1489G>T (p.Glu497Ter) | dbSNP |
| 3 | g.38603984C= | CA1358584996 | SCN5A | c.1618G= (p.Glu540=) c.1489G= (p.Glu497=) | |
| 3 | g.38603984C>G | CA352147154 | SCN5A | c.1618G>C (p.Glu540Gln) c.1489G>C (p.Glu497Gln) | |
| 3 | g.38603984C>T | CA352147157 | SCN5A | c.1618G>A (p.Glu540Lys) c.1489G>A (p.Glu497Lys) | gnomAD v4 |
| 3 | g.38603985A>C | CA433333157 | SCN5A | c.1617T>G (p.Ser539=) c.1488T>G (p.Ser496=) | |
| 3 | g.38603985A>G | CA433333158 | SCN5A | c.1617T>C (p.Ser539=) c.1488T>C (p.Ser496=) | gnomAD v4 |
| 3 | g.38603985A>T | CA433333159 | SCN5A | c.1617T>A (p.Ser539=) c.1488T>A (p.Ser496=) | |
| 3 | g.38603986G>A | CA352147161 | SCN5A | c.1616C>T (p.Ser539Phe) c.1487C>T (p.Ser496Phe) | |
| 3 | g.38603986G>C | CA352147163 | SCN5A | c.1616C>G (p.Ser539Cys) c.1487C>G (p.Ser496Cys) | |
| 3 | g.38603986G>T | CA352147165 | SCN5A | c.1616C>A (p.Ser539Tyr) c.1487C>A (p.Ser496Tyr) | |
| 3 | g.38603987A>C | CA352147170 | SCN5A | c.1615T>G (p.Ser539Ala) c.1486T>G (p.Ser496Ala) | |
| 3 | g.38603987A>G | CA352147168 | SCN5A | c.1615T>C (p.Ser539Pro) c.1486T>C (p.Ser496Pro) | |
| 3 | g.38603987A>T | CA352147169 | SCN5A | c.1615T>A (p.Ser539Thr) c.1486T>A (p.Ser496Thr) | |
| 3 | g.38603988A>C | CA433333164 | SCN5A | c.1614T>G (p.Gly538=) c.1485T>G (p.Gly495=) | |
| 3 | g.38603988A>G | CA433333163 | SCN5A | c.1614T>C (p.Gly538=) c.1485T>C (p.Gly495=) | |
| 3 | g.38603988A>T | CA433333165 | SCN5A | c.1614T>A (p.Gly538=) c.1485T>A (p.Gly495=) | |
| 3 | g.38603988_38603989delinsAC | CA1358584997 | SCN5A | c.1613_1614delinsGT (p.Gly538=) c.1484_1485delinsGT (p.Gly495=) | |
| 3 | g.38603989C>A | CA352147172 | SCN5A | c.1613G>T (p.Gly538Val) c.1484G>T (p.Gly495Val) | ClinVar dbSNP |
| 3 | g.38603989C= | CA1358584998 | SCN5A | c.1613G= (p.Gly538=) c.1484G= (p.Gly495=) | |
| 3 | g.38603989C>G | CA352147175 | SCN5A | c.1613G>C (p.Gly538Ala) c.1484G>C (p.Gly495Ala) | |
| 3 | g.38603989C>T | CA058388 | SCN5A | c.1613G>A (p.Gly538Asp) c.1484G>A (p.Gly495Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38603991del | CA658796278 | SCN5A | c.1613del (p.Gly538ValfsTer?) c.1484del (p.Gly495ValfsTer?) | ClinVar dbSNP |
| 3 | g.38603990C>A | CA352147191 | SCN5A | c.1612G>T (p.Gly538Cys) c.1483G>T (p.Gly495Cys) | |
| 3 | g.38603990C>G | CA352147194 | SCN5A | c.1612G>C (p.Gly538Arg) c.1483G>C (p.Gly495Arg) | |
| 3 | g.38603990C>T | CA352147196 | SCN5A | c.1612G>A (p.Gly538Ser) c.1483G>A (p.Gly495Ser) | |
| 3 | g.38603991C>A | CA433333171 | SCN5A | c.1611G>T (p.Leu537=) c.1482G>T (p.Leu494=) | |
| 3 | g.38603991C>G | CA433333172 | SCN5A | c.1611G>C (p.Leu537=) c.1482G>C (p.Leu494=) | gnomAD v4 |
| 3 | g.38603991C>T | CA433333173 | SCN5A | c.1611G>A (p.Leu537=) c.1482G>A (p.Leu494=) | |
| 3 | g.38603992A= | CA1358584999 | SCN5A | c.1610T= (p.Leu537=) c.1481T= (p.Leu494=) | |
| 3 | g.38603992A>C | CA352147198 | SCN5A | c.1610T>G (p.Leu537Arg) c.1481T>G (p.Leu494Arg) | dbSNP |
| 3 | g.38603992A>G | CA352147200 | SCN5A | c.1610T>C (p.Leu537Pro) c.1481T>C (p.Leu494Pro) | |
| 3 | g.38603992A>T | CA352147201 | SCN5A | c.1610T>A (p.Leu537Gln) c.1481T>A (p.Leu494Gln) | |
| 3 | g.38603993G>A | CA433333178 | SCN5A | c.1609C>T (p.Leu537=) c.1480C>T (p.Leu494=) | |
| 3 | g.38603993G>C | CA352147202 | SCN5A | c.1609C>G (p.Leu537Val) c.1480C>G (p.Leu494Val) | |
| 3 | g.38603993G>T | CA352147203 | SCN5A | c.1609C>A (p.Leu537Met) c.1480C>A (p.Leu494Met) | |
| 3 | g.38603994G>A | CA433333181 | SCN5A | c.1608C>T (p.Asp536=) c.1479C>T (p.Asp493=) | ClinVar dbSNP |
| 3 | g.38603994G>C | CA352147207 | SCN5A | c.1608C>G (p.Asp536Glu) c.1479C>G (p.Asp493Glu) | |
| 3 | g.38603994G= | CA1358585000 | SCN5A | c.1608C= (p.Asp536=) c.1479C= (p.Asp493=) | |
| 3 | g.38603994G>T | CA352147205 | SCN5A | c.1608C>A (p.Asp536Glu) c.1479C>A (p.Asp493Glu) | |
| 3 | g.38603995T>A | CA352147210 | SCN5A | c.1607A>T (p.Asp536Val) c.1478A>T (p.Asp493Val) | |
| 3 | g.38603995T>C | CA352147213 | SCN5A | c.1607A>G (p.Asp536Gly) c.1478A>G (p.Asp493Gly) | |
| 3 | g.38603995T>G | CA352147216 | SCN5A | c.1607A>C (p.Asp536Ala) c.1478A>C (p.Asp493Ala) | |
| 3 | g.38603996C>A | CA352147222 | SCN5A | c.1606G>T (p.Asp536Tyr) c.1477G>T (p.Asp493Tyr) | |
| 3 | g.38603996C= | CA1358585001 | SCN5A | c.1606G= (p.Asp536=) c.1477G= (p.Asp493=) | |
| 3 | g.38603996C>G | CA352147224 | SCN5A | c.1606G>C (p.Asp536His) c.1477G>C (p.Asp493His) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38603996C>T | CA352147226 | SCN5A | c.1606G>A (p.Asp536Asn) c.1477G>A (p.Asp493Asn) | |
| 3 | g.38603997T>A | CA433333189 | SCN5A | c.1605A>T (p.Arg535=) c.1476A>T (p.Arg492=) | |
| 3 | g.38603997T>C | CA433333190 | SCN5A | c.1605A>G (p.Arg535=) c.1476A>G (p.Arg492=) | gnomAD v4 |
| 3 | g.38603997T>G | CA433333191 | SCN5A | c.1605A>C (p.Arg535=) c.1476A>C (p.Arg492=) | |
| 3 | g.38603998C>A | CA352147229 | SCN5A | c.1604G>T (p.Arg535Leu) c.1475G>T (p.Arg492Leu) | |
| 3 | g.38603998C= | CA1358585002 | SCN5A | c.1604G= (p.Arg535=) c.1475G= (p.Arg492=) | |
| 3 | g.38603998C>G | CA352147232 | SCN5A | c.1604G>C (p.Arg535Pro) c.1475G>C (p.Arg492Pro) | |
| 3 | g.38603998C>T | CA015071 | SCN5A | c.1604G>A (p.Arg535Gln) c.1475G>A (p.Arg492Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.38603999G>A | CA352147237 | SCN5A | c.1603C>T (p.Arg535Ter) c.1474C>T (p.Arg492Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.38603999G>C | CA352147239 | SCN5A | c.1603C>G (p.Arg535Gly) c.1474C>G (p.Arg492Gly) | |
| 3 | g.38603999G= | CA1358585003 | SCN5A | c.1603C= (p.Arg535=) c.1474C= (p.Arg492=) | |
| 3 | g.38603999G>T | CA433333195 | SCN5A | c.1603C>A (p.Arg535=) c.1474C>A (p.Arg492=) | |
| 3 | g.38604000C>A | CA352147240 | SCN5A | c.1602G>T (p.Arg534Ser) c.1473G>T (p.Arg491Ser) | |
| 3 | g.38604000C>G | CA352147241 | SCN5A | c.1602G>C (p.Arg534Ser) c.1473G>C (p.Arg491Ser) | |
| 3 | g.38604000C>T | CA433333199 | SCN5A | c.1602G>A (p.Arg534=) c.1473G>A (p.Arg491=) | |
| 3 | g.38604001C>A | CA352147249 | SCN5A | c.1601G>T (p.Arg534Met) c.1472G>T (p.Arg491Met) | |
| 3 | g.38604001C>G | CA352147245 | SCN5A | c.1601G>C (p.Arg534Thr) c.1472G>C (p.Arg491Thr) | |
| 3 | g.38604001C>T | CA352147247 | SCN5A | c.1601G>A (p.Arg534Lys) c.1472G>A (p.Arg491Lys) | |
| 3 | g.38604002T>A | CA352147251 | SCN5A | c.1600A>T (p.Arg534Trp) c.1471A>T (p.Arg491Trp) | COSMIC COSMIC COSMIC |
| 3 | g.38604002T>C | CA352147253 | SCN5A | c.1600A>G (p.Arg534Gly) c.1471A>G (p.Arg491Gly) | |
| 3 | g.38604002T>G | CA433333208 | SCN5A | c.1600A>C (p.Arg534=) c.1471A>C (p.Arg491=) | dbSNP |
| 3 | g.38604003G>A | CA433333211 | SCN5A | c.1599C>T (p.Arg533=) c.1470C>T (p.Arg490=) | COSMIC COSMIC COSMIC |
| 3 | g.38604003G>C | CA433333210 | SCN5A | c.1599C>G (p.Arg533=) c.1470C>G (p.Arg490=) | |
| 3 | g.38604003G>T | CA433333209 | SCN5A | c.1599C>A (p.Arg533=) c.1470C>A (p.Arg490=) | |
| 3 | g.38604004C>A | CA352147254 | SCN5A | c.1598G>T (p.Arg533Leu) c.1469G>T (p.Arg490Leu) | dbSNP |
| 3 | g.38604004C= | CA1358585004 | SCN5A | c.1598G= (p.Arg533=) c.1469G= (p.Arg490=) | |
| 3 | g.38604004C>G | CA352147258 | SCN5A | c.1598G>C (p.Arg533Pro) c.1469G>C (p.Arg490Pro) | dbSNP |
| 3 | g.38604004C>T | CA015061 | SCN5A | c.1598G>A (p.Arg533His) c.1469G>A (p.Arg490His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38604005G>A | CA058356 | SCN5A | c.1597C>T (p.Arg533Cys) c.1468C>T (p.Arg490Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.38604005G>C | CA352147265 | SCN5A | c.1597C>G (p.Arg533Gly) c.1468C>G (p.Arg490Gly) | |
| 3 | g.38604005G= | CA1358585005 | SCN5A | c.1597C= (p.Arg533=) c.1468C= (p.Arg490=) | |
| 3 | g.38604005G>T | CA058346 | SCN5A | c.1597C>A (p.Arg533Ser) c.1468C>A (p.Arg490Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38604006A>C | CA352147266 | SCN5A | c.1596T>G (p.Phe532Leu) c.1467T>G (p.Phe489Leu) | |
| 3 | g.38604006A>G | CA433333218 | SCN5A | c.1596T>C (p.Phe532=) c.1467T>C (p.Phe489=) | gnomAD v4 |
| 3 | g.38604006A>T | CA352147268 | SCN5A | c.1596T>A (p.Phe532Leu) c.1467T>A (p.Phe489Leu) | |
| 3 | g.38604008del | CA2586971913 | SCN5A | c.1596del (p.Arg533AlafsTer?) c.1467del (p.Arg490AlafsTer?) | gnomAD v4 |
| 3 | g.38604007A= | CA1358585006 | SCN5A | c.1595T= (p.Phe532=) c.1466T= (p.Phe489=) | |
| 3 | g.38604007A>C | CA015051 | SCN5A | c.1595T>G (p.Phe532Cys) c.1466T>G (p.Phe489Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38604007A>G | CA352147273 | SCN5A | c.1595T>C (p.Phe532Ser) c.1466T>C (p.Phe489Ser) | |
| 3 | g.38604007A>T | CA352147275 | SCN5A | c.1595T>A (p.Phe532Tyr) c.1466T>A (p.Phe489Tyr) | |
| 3 | g.38604008A= | CA1358585007 | SCN5A | c.1594T= (p.Phe532=) c.1465T= (p.Phe489=) | |
| 3 | g.38604008A>C | CA352147284 | SCN5A | c.1594T>G (p.Phe532Val) c.1465T>G (p.Phe489Val) | |
| 3 | g.38604008A>G | CA058332 | SCN5A | c.1594T>C (p.Phe532Leu) c.1465T>C (p.Phe489Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38604008A>T | CA352147277 | SCN5A | c.1594T>A (p.Phe532Ile) c.1465T>A (p.Phe489Ile) | |
| 3 | g.38604009G>A | CA433333226 | SCN5A | c.1593C>T (p.Thr531=) c.1464C>T (p.Thr488=) | |
| 3 | g.38604009G>C | CA433333227 | SCN5A | c.1593C>G (p.Thr531=) c.1464C>G (p.Thr488=) | |
| 3 | g.38604009G>T | CA433333229 | SCN5A | c.1593C>A (p.Thr531=) c.1464C>A (p.Thr488=) | |
| 3 | g.38604010G>A | CA058323 | SCN5A | c.1592C>T (p.Thr531Ile) c.1463C>T (p.Thr488Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38604010G>C | CA352147289 | SCN5A | c.1592C>G (p.Thr531Ser) c.1463C>G (p.Thr488Ser) | |
| 3 | g.38604010G= | CA1358585008 | SCN5A | c.1592C= (p.Thr531=) c.1463C= (p.Thr488=) | |
| 3 | g.38604010G>T | CA352147292 | SCN5A | c.1592C>A (p.Thr531Asn) c.1463C>A (p.Thr488Asn) | |
| 3 | g.38604011T>A | CA352147299 | SCN5A | c.1591A>T (p.Thr531Ser) c.1462A>T (p.Thr488Ser) | |
| 3 | g.38604011T>C | CA058313 | SCN5A | c.1591A>G (p.Thr531Ala) c.1462A>G (p.Thr488Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38604011T>G | CA352147304 | SCN5A | c.1591A>C (p.Thr531Pro) c.1462A>C (p.Thr488Pro) | |
| 3 | g.38604011T= | CA1358585009 | SCN5A | c.1591A= (p.Thr531=) c.1462A= (p.Thr488=) |