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.38551295_38551303del | CA2573052151 | SCN5A | c.5068_5076del (p.Met1690_Asn1692del) c.5071_5079del (p.Met1691_Asn1693del) c.5017_5025del (p.Met1673_Asn1675del) c.4909_4917del (p.Met1637_Asn1639del) c.4972_4980del (p.Met1658_Asn1660del) c.4942_4950del (p.Met1648_Asn1650del) c.5014_5022del (p.Met1672_Asn1674del) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38551296G>A | CA433332034 | SCN5A | c.5073C>T (p.Phe1691=) c.5076C>T (p.Phe1692=) c.5022C>T (p.Phe1674=) c.4914C>T (p.Phe1638=) c.4977C>T (p.Phe1659=) c.4947C>T (p.Phe1649=) c.5019C>T (p.Phe1673=) | COSMIC COSMIC COSMIC |
| 3 | g.38551296G>C | CA352142475 | SCN5A | c.5073C>G (p.Phe1691Leu) c.5076C>G (p.Phe1692Leu) c.5022C>G (p.Phe1674Leu) c.4914C>G (p.Phe1638Leu) c.4977C>G (p.Phe1659Leu) c.4947C>G (p.Phe1649Leu) c.5019C>G (p.Phe1673Leu) | |
| 3 | g.38551296G>T | CA352142477 | SCN5A | c.5073C>A (p.Phe1691Leu) c.5076C>A (p.Phe1692Leu) c.5022C>A (p.Phe1674Leu) c.4914C>A (p.Phe1638Leu) c.4977C>A (p.Phe1659Leu) c.4947C>A (p.Phe1649Leu) c.5019C>A (p.Phe1673Leu) | |
| 3 | g.38551297A= | CA1358557796 | SCN5A | c.5072T= (p.Phe1691=) c.5075T= (p.Phe1692=) c.5021T= (p.Phe1674=) c.4913T= (p.Phe1638=) c.4976T= (p.Phe1659=) c.4946T= (p.Phe1649=) c.5018T= (p.Phe1673=) | |
| 3 | g.38551297A>C | CA352142479 | SCN5A | c.5072T>G (p.Phe1691Cys) c.5075T>G (p.Phe1692Cys) c.5021T>G (p.Phe1674Cys) c.4913T>G (p.Phe1638Cys) c.4976T>G (p.Phe1659Cys) c.4946T>G (p.Phe1649Cys) c.5018T>G (p.Phe1673Cys) | |
| 3 | g.38551297A>G | CA352115 | SCN5A | c.5072T>C (p.Phe1691Ser) c.5075T>C (p.Phe1692Ser) c.5021T>C (p.Phe1674Ser) c.4913T>C (p.Phe1638Ser) c.4976T>C (p.Phe1659Ser) c.4946T>C (p.Phe1649Ser) c.5018T>C (p.Phe1673Ser) | ClinVar dbSNP |
| 3 | g.38551297A>T | CA352142482 | SCN5A | c.5072T>A (p.Phe1691Tyr) c.5075T>A (p.Phe1692Tyr) c.5021T>A (p.Phe1674Tyr) c.4913T>A (p.Phe1638Tyr) c.4976T>A (p.Phe1659Tyr) c.4946T>A (p.Phe1649Tyr) c.5018T>A (p.Phe1673Tyr) | |
| 3 | g.38551298A>C | CA352142487 | SCN5A | c.5071T>G (p.Phe1691Val) c.5074T>G (p.Phe1692Val) c.5020T>G (p.Phe1674Val) c.4912T>G (p.Phe1638Val) c.4975T>G (p.Phe1659Val) c.4945T>G (p.Phe1649Val) c.5017T>G (p.Phe1673Val) | |
| 3 | g.38551298A>G | CA352142485 | SCN5A | c.5071T>C (p.Phe1691Leu) c.5074T>C (p.Phe1692Leu) c.5020T>C (p.Phe1674Leu) c.4912T>C (p.Phe1638Leu) c.4975T>C (p.Phe1659Leu) c.4945T>C (p.Phe1649Leu) c.5017T>C (p.Phe1673Leu) | |
| 3 | g.38551298A>T | CA352142484 | SCN5A | c.5071T>A (p.Phe1691Ile) c.5074T>A (p.Phe1692Ile) c.5020T>A (p.Phe1674Ile) c.4912T>A (p.Phe1638Ile) c.4975T>A (p.Phe1659Ile) c.4945T>A (p.Phe1649Ile) c.5017T>A (p.Phe1673Ile) | |
| 3 | g.38551299C>A | CA352142490 | SCN5A | c.5070G>T (p.Met1690Ile) c.5073G>T (p.Met1691Ile) c.5019G>T (p.Met1673Ile) c.4911G>T (p.Met1637Ile) c.4974G>T (p.Met1658Ile) c.4944G>T (p.Met1648Ile) c.5016G>T (p.Met1672Ile) | |
| 3 | g.38551299C>G | CA352142491 | SCN5A | c.5070G>C (p.Met1690Ile) c.5073G>C (p.Met1691Ile) c.5019G>C (p.Met1673Ile) c.4911G>C (p.Met1637Ile) c.4974G>C (p.Met1658Ile) c.4944G>C (p.Met1648Ile) c.5016G>C (p.Met1672Ile) | |
| 3 | g.38551299C>T | CA352142493 | SCN5A | c.5070G>A (p.Met1690Ile) c.5073G>A (p.Met1691Ile) c.5019G>A (p.Met1673Ile) c.4911G>A (p.Met1637Ile) c.4974G>A (p.Met1658Ile) c.4944G>A (p.Met1648Ile) c.5016G>A (p.Met1672Ile) | |
| 3 | g.38551300A= | CA1358557800 | SCN5A | c.5069T= (p.Met1690=) c.5072T= (p.Met1691=) c.5018T= (p.Met1673=) c.4910T= (p.Met1637=) c.4973T= (p.Met1658=) c.4943T= (p.Met1648=) c.5015T= (p.Met1672=) | |
| 3 | g.38551300A>C | CA352142494 | SCN5A | c.5069T>G (p.Met1690Arg) c.5072T>G (p.Met1691Arg) c.5018T>G (p.Met1673Arg) c.4910T>G (p.Met1637Arg) c.4973T>G (p.Met1658Arg) c.4943T>G (p.Met1648Arg) c.5015T>G (p.Met1672Arg) | |
| 3 | g.38551300A>G | CA018868 | SCN5A | c.5069T>C (p.Met1690Thr) c.5072T>C (p.Met1691Thr) c.5018T>C (p.Met1673Thr) c.4910T>C (p.Met1637Thr) c.4973T>C (p.Met1658Thr) c.4943T>C (p.Met1648Thr) c.5015T>C (p.Met1672Thr) | ClinVar dbSNP |
| 3 | g.38551300A>T | CA352142496 | SCN5A | c.5069T>A (p.Met1690Lys) c.5072T>A (p.Met1691Lys) c.5018T>A (p.Met1673Lys) c.4910T>A (p.Met1637Lys) c.4973T>A (p.Met1658Lys) c.4943T>A (p.Met1648Lys) c.5015T>A (p.Met1672Lys) | |
| 3 | g.38551300_38551301del | CA2739279199 | SCN5A | c.5068_5069del (p.Met1690ValfsTer?) c.5071_5072del (p.Met1691ValfsTer?) c.5017_5018del (p.Met1673ValfsTer?) c.4909_4910del (p.Met1637ValfsTer?) c.4972_4973del (p.Met1658ValfsTer?) c.4942_4943del (p.Met1648ValfsTer?) c.5014_5015del (p.Met1672ValfsTer?) | ClinVar |
| 3 | g.38551301T>A | CA352142501 | SCN5A | c.5068A>T (p.Met1690Leu) c.5071A>T (p.Met1691Leu) c.5017A>T (p.Met1673Leu) c.4909A>T (p.Met1637Leu) c.4972A>T (p.Met1658Leu) c.4942A>T (p.Met1648Leu) c.5014A>T (p.Met1672Leu) | |
| 3 | g.38551301T>C | CA352142499 | SCN5A | c.5068A>G (p.Met1690Val) c.5071A>G (p.Met1691Val) c.5017A>G (p.Met1673Val) c.4909A>G (p.Met1637Val) c.4972A>G (p.Met1658Val) c.4942A>G (p.Met1648Val) c.5014A>G (p.Met1672Val) | |
| 3 | g.38551301T>G | CA352142497 | SCN5A | c.5068A>C (p.Met1690Leu) c.5071A>C (p.Met1691Leu) c.5017A>C (p.Met1673Leu) c.4909A>C (p.Met1637Leu) c.4972A>C (p.Met1658Leu) c.4942A>C (p.Met1648Leu) c.5014A>C (p.Met1672Leu) | |
| 3 | g.38551301_38551304delinsTGTC | CA1358557803 | SCN5A | c.5065_5068delinsGACA (p.Asp1689=) c.5068_5071delinsGACA (p.Asp1690=) c.5014_5017delinsGACA (p.Asp1672=) c.4906_4909delinsGACA (p.Asp1636=) c.4969_4972delinsGACA (p.Asp1657=) c.4939_4942delinsGACA (p.Asp1647=) c.5011_5014delinsGACA (p.Asp1671=) | |
| 3 | g.38551302G>A | CA433332040 | SCN5A | c.5067C>T (p.Asp1689=) c.5070C>T (p.Asp1690=) c.5016C>T (p.Asp1672=) c.4908C>T (p.Asp1636=) c.4971C>T (p.Asp1657=) c.4941C>T (p.Asp1647=) c.5013C>T (p.Asp1671=) | gnomAD v4 |
| 3 | g.38551302G>C | CA352142503 | SCN5A | c.5067C>G (p.Asp1689Glu) c.5070C>G (p.Asp1690Glu) c.5016C>G (p.Asp1672Glu) c.4908C>G (p.Asp1636Glu) c.4971C>G (p.Asp1657Glu) c.4941C>G (p.Asp1647Glu) c.5013C>G (p.Asp1671Glu) | |
| 3 | g.38551302G>T | CA352142505 | SCN5A | c.5067C>A (p.Asp1689Glu) c.5070C>A (p.Asp1690Glu) c.5016C>A (p.Asp1672Glu) c.4908C>A (p.Asp1636Glu) c.4971C>A (p.Asp1657Glu) c.4941C>A (p.Asp1647Glu) c.5013C>A (p.Asp1671Glu) | |
| 3 | g.38551306_38551308del | CA064105 | SCN5A | c.5065_5067del (p.Asp1689del) c.5068_5070del (p.Asp1690del) c.5014_5016del (p.Asp1672del) c.4906_4908del (p.Asp1636del) c.4969_4971del (p.Asp1657del) c.4939_4941del (p.Asp1647del) c.5011_5013del (p.Asp1671del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38551303T>A | CA352142507 | SCN5A | c.5066A>T (p.Asp1689Val) c.5069A>T (p.Asp1690Val) c.5015A>T (p.Asp1672Val) c.4907A>T (p.Asp1636Val) c.4970A>T (p.Asp1657Val) c.4940A>T (p.Asp1647Val) c.5012A>T (p.Asp1671Val) | |
| 3 | g.38551303T>C | CA352142509 | SCN5A | c.5066A>G (p.Asp1689Gly) c.5069A>G (p.Asp1690Gly) c.5015A>G (p.Asp1672Gly) c.4907A>G (p.Asp1636Gly) c.4970A>G (p.Asp1657Gly) c.4940A>G (p.Asp1647Gly) c.5012A>G (p.Asp1671Gly) | |
| 3 | g.38551303T>G | CA352142511 | SCN5A | c.5066A>C (p.Asp1689Ala) c.5069A>C (p.Asp1690Ala) c.5015A>C (p.Asp1672Ala) c.4907A>C (p.Asp1636Ala) c.4970A>C (p.Asp1657Ala) c.4940A>C (p.Asp1647Ala) c.5012A>C (p.Asp1671Ala) | |
| 3 | g.38551303_38551304del | CA2586965820 | SCN5A | c.5065_5066del (p.Asp1689HisfsTer?) c.5068_5069del (p.Asp1690HisfsTer?) c.5014_5015del (p.Asp1672HisfsTer?) c.4906_4907del (p.Asp1636HisfsTer?) c.4969_4970del (p.Asp1657HisfsTer?) c.4939_4940del (p.Asp1647HisfsTer?) c.5011_5012del (p.Asp1671HisfsTer?) | |
| 3 | g.38551303_38551304insACATTGC | CA2510554108 | SCN5A | c.5065_5066insGCAATGT (p.Asp1689GlyfsTer?) c.5068_5069insGCAATGT (p.Asp1690GlyfsTer?) c.5014_5015insGCAATGT (p.Asp1672GlyfsTer?) c.4906_4907insGCAATGT (p.Asp1636GlyfsTer?) c.4969_4970insGCAATGT (p.Asp1657GlyfsTer?) c.4939_4940insGCAATGT (p.Asp1647GlyfsTer?) c.5011_5012insGCAATGT (p.Asp1671GlyfsTer?) | |
| 3 | g.38551304C>A | CA352142513 | SCN5A | c.5065G>T (p.Asp1689Tyr) c.5068G>T (p.Asp1690Tyr) c.5014G>T (p.Asp1672Tyr) c.4906G>T (p.Asp1636Tyr) c.4969G>T (p.Asp1657Tyr) c.4939G>T (p.Asp1647Tyr) c.5011G>T (p.Asp1671Tyr) | |
| 3 | g.38551304C= | CA1358557811 | SCN5A | c.5065G= (p.Asp1689=) c.5068G= (p.Asp1690=) c.5014G= (p.Asp1672=) c.4906G= (p.Asp1636=) c.4969G= (p.Asp1657=) c.4939G= (p.Asp1647=) c.5011G= (p.Asp1671=) | |
| 3 | g.38551304C>G | CA352142516 | SCN5A | c.5065G>C (p.Asp1689His) c.5068G>C (p.Asp1690His) c.5014G>C (p.Asp1672His) c.4906G>C (p.Asp1636His) c.4969G>C (p.Asp1657His) c.4939G>C (p.Asp1647His) c.5011G>C (p.Asp1671His) | |
| 3 | g.38551304C>T | CA16609724 | SCN5A | c.5065G>A (p.Asp1689Asn) c.5068G>A (p.Asp1690Asn) c.5014G>A (p.Asp1672Asn) c.4906G>A (p.Asp1636Asn) c.4969G>A (p.Asp1657Asn) c.4939G>A (p.Asp1647Asn) c.5011G>A (p.Asp1671Asn) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38551305G>A | CA064103 | SCN5A | c.5064C>T (p.Asp1688=) c.5067C>T (p.Asp1689=) c.5013C>T (p.Asp1671=) c.4905C>T (p.Asp1635=) c.4968C>T (p.Asp1656=) c.4938C>T (p.Asp1646=) c.5010C>T (p.Asp1670=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.38551305G>C | CA352142519 | SCN5A | c.5064C>G (p.Asp1688Glu) c.5067C>G (p.Asp1689Glu) c.5013C>G (p.Asp1671Glu) c.4905C>G (p.Asp1635Glu) c.4968C>G (p.Asp1656Glu) c.4938C>G (p.Asp1646Glu) c.5010C>G (p.Asp1670Glu) | |
| 3 | g.38551305G= | CA1358557822 | SCN5A | c.5064C= (p.Asp1688=) c.5067C= (p.Asp1689=) c.5013C= (p.Asp1671=) c.4905C= (p.Asp1635=) c.4968C= (p.Asp1656=) c.4938C= (p.Asp1646=) c.5010C= (p.Asp1670=) | |
| 3 | g.38551305G>T | CA72938182 | SCN5A | c.5064C>A (p.Asp1688Glu) c.5067C>A (p.Asp1689Glu) c.5013C>A (p.Asp1671Glu) c.4905C>A (p.Asp1635Glu) c.4968C>A (p.Asp1656Glu) c.4938C>A (p.Asp1646Glu) c.5010C>A (p.Asp1670Glu) | dbSNP |
| 3 | g.38551306T>A | CA352142523 | SCN5A | c.5063A>T (p.Asp1688Val) c.5066A>T (p.Asp1689Val) c.5012A>T (p.Asp1671Val) c.4904A>T (p.Asp1635Val) c.4967A>T (p.Asp1656Val) c.4937A>T (p.Asp1646Val) c.5009A>T (p.Asp1670Val) | |
| 3 | g.38551306T>C | CA352142525 | SCN5A | c.5063A>G (p.Asp1688Gly) c.5066A>G (p.Asp1689Gly) c.5012A>G (p.Asp1671Gly) c.4904A>G (p.Asp1635Gly) c.4967A>G (p.Asp1656Gly) c.4937A>G (p.Asp1646Gly) c.5009A>G (p.Asp1670Gly) | |
| 3 | g.38551306T>G | CA352142527 | SCN5A | c.5063A>C (p.Asp1688Ala) c.5066A>C (p.Asp1689Ala) c.5012A>C (p.Asp1671Ala) c.4904A>C (p.Asp1635Ala) c.4967A>C (p.Asp1656Ala) c.4937A>C (p.Asp1646Ala) c.5009A>C (p.Asp1670Ala) | |
| 3 | g.38551307C>A | CA352142528 | SCN5A | c.5062G>T (p.Asp1688Tyr) c.5065G>T (p.Asp1689Tyr) c.5011G>T (p.Asp1671Tyr) c.4903G>T (p.Asp1635Tyr) c.4966G>T (p.Asp1656Tyr) c.4936G>T (p.Asp1646Tyr) c.5008G>T (p.Asp1670Tyr) | |
| 3 | g.38551307C= | CA1358557825 | SCN5A | c.5062G= (p.Asp1688=) c.5065G= (p.Asp1689=) c.5011G= (p.Asp1671=) c.4903G= (p.Asp1635=) c.4966G= (p.Asp1656=) c.4936G= (p.Asp1646=) c.5008G= (p.Asp1670=) | |
| 3 | g.38551307C>G | CA352142530 | SCN5A | c.5062G>C (p.Asp1688His) c.5065G>C (p.Asp1689His) c.5011G>C (p.Asp1671His) c.4903G>C (p.Asp1635His) c.4966G>C (p.Asp1656His) c.4936G>C (p.Asp1646His) c.5008G>C (p.Asp1670His) | |
| 3 | g.38551307C>T | CA064098 | SCN5A | c.5062G>A (p.Asp1688Asn) c.5065G>A (p.Asp1689Asn) c.5011G>A (p.Asp1671Asn) c.4903G>A (p.Asp1635Asn) c.4966G>A (p.Asp1656Asn) c.4936G>A (p.Asp1646Asn) c.5008G>A (p.Asp1670Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38551308G>A | CA064093 | SCN5A | c.5061C>T (p.Ile1687=) c.5064C>T (p.Ile1688=) c.5010C>T (p.Ile1670=) c.4902C>T (p.Ile1634=) c.4965C>T (p.Ile1655=) c.4935C>T (p.Ile1645=) c.5007C>T (p.Ile1669=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38551308G>C | CA352142532 | SCN5A | c.5061C>G (p.Ile1687Met) c.5064C>G (p.Ile1688Met) c.5010C>G (p.Ile1670Met) c.4902C>G (p.Ile1634Met) c.4965C>G (p.Ile1655Met) c.4935C>G (p.Ile1645Met) c.5007C>G (p.Ile1669Met) | |
| 3 | g.38551308G= | CA1358557831 | SCN5A | c.5061C= (p.Ile1687=) c.5064C= (p.Ile1688=) c.5010C= (p.Ile1670=) c.4902C= (p.Ile1634=) c.4965C= (p.Ile1655=) c.4935C= (p.Ile1645=) c.5007C= (p.Ile1669=) | |
| 3 | g.38551308G>T | CA433332046 | SCN5A | c.5061C>A (p.Ile1687=) c.5064C>A (p.Ile1688=) c.5010C>A (p.Ile1670=) c.4902C>A (p.Ile1634=) c.4965C>A (p.Ile1655=) c.4935C>A (p.Ile1645=) c.5007C>A (p.Ile1669=) | |
| 3 | g.38551309A>C | CA352142534 | SCN5A | c.5060T>G (p.Ile1687Ser) c.5063T>G (p.Ile1688Ser) c.5009T>G (p.Ile1670Ser) c.4901T>G (p.Ile1634Ser) c.4964T>G (p.Ile1655Ser) c.4934T>G (p.Ile1645Ser) c.5006T>G (p.Ile1669Ser) | |
| 3 | g.38551309A>G | CA352142537 | SCN5A | c.5060T>C (p.Ile1687Thr) c.5063T>C (p.Ile1688Thr) c.5009T>C (p.Ile1670Thr) c.4901T>C (p.Ile1634Thr) c.4964T>C (p.Ile1655Thr) c.4934T>C (p.Ile1645Thr) c.5006T>C (p.Ile1669Thr) | |
| 3 | g.38551309A>T | CA352142535 | SCN5A | c.5060T>A (p.Ile1687Asn) c.5063T>A (p.Ile1688Asn) c.5009T>A (p.Ile1670Asn) c.4901T>A (p.Ile1634Asn) c.4964T>A (p.Ile1655Asn) c.4934T>A (p.Ile1645Asn) c.5006T>A (p.Ile1669Asn) | |
| 3 | g.38551310T>A | CA352142539 | SCN5A | c.5059A>T (p.Ile1687Phe) c.5062A>T (p.Ile1688Phe) c.5008A>T (p.Ile1670Phe) c.4900A>T (p.Ile1634Phe) c.4963A>T (p.Ile1655Phe) c.4933A>T (p.Ile1645Phe) c.5005A>T (p.Ile1669Phe) | |
| 3 | g.38551310T>C | CA352142540 | SCN5A | c.5059A>G (p.Ile1687Val) c.5062A>G (p.Ile1688Val) c.5008A>G (p.Ile1670Val) c.4900A>G (p.Ile1634Val) c.4963A>G (p.Ile1655Val) c.4933A>G (p.Ile1645Val) c.5005A>G (p.Ile1669Val) | |
| 3 | g.38551310T>G | CA352142542 | SCN5A | c.5059A>C (p.Ile1687Leu) c.5062A>C (p.Ile1688Leu) c.5008A>C (p.Ile1670Leu) c.4900A>C (p.Ile1634Leu) c.4963A>C (p.Ile1655Leu) c.4933A>C (p.Ile1645Leu) c.5005A>C (p.Ile1669Leu) | |
| 3 | g.38551311G>A | CA433332048 | SCN5A | c.5058C>T (p.Gly1686=) c.5061C>T (p.Gly1687=) c.5007C>T (p.Gly1669=) c.4899C>T (p.Gly1633=) c.4962C>T (p.Gly1654=) c.4932C>T (p.Gly1644=) c.5004C>T (p.Gly1668=) | dbSNP |
| 3 | g.38551311G>C | CA433332049 | SCN5A | c.5058C>G (p.Gly1686=) c.5061C>G (p.Gly1687=) c.5007C>G (p.Gly1669=) c.4899C>G (p.Gly1633=) c.4962C>G (p.Gly1654=) c.4932C>G (p.Gly1644=) c.5004C>G (p.Gly1668=) | |
| 3 | g.38551311G= | CA1358557834 | SCN5A | c.5058C= (p.Gly1686=) c.5061C= (p.Gly1687=) c.5007C= (p.Gly1669=) c.4899C= (p.Gly1633=) c.4962C= (p.Gly1654=) c.4932C= (p.Gly1644=) c.5004C= (p.Gly1668=) | |
| 3 | g.38551311G>T | CA433332050 | SCN5A | c.5058C>A (p.Gly1686=) c.5061C>A (p.Gly1687=) c.5007C>A (p.Gly1669=) c.4899C>A (p.Gly1633=) c.4962C>A (p.Gly1654=) c.4932C>A (p.Gly1644=) c.5004C>A (p.Gly1668=) | gnomAD v4 |
| 3 | g.38551313_38551314insGCGGCC | CA2586965821 | SCN5A | c.5058_5059insCGCGGC (p.Gly1686_Ile1687insArgGly) c.5061_5062insCGCGGC (p.Gly1687_Ile1688insArgGly) c.5007_5008insCGCGGC (p.Gly1669_Ile1670insArgGly) c.4899_4900insCGCGGC (p.Gly1633_Ile1634insArgGly) c.4962_4963insCGCGGC (p.Gly1654_Ile1655insArgGly) c.4932_4933insCGCGGC (p.Gly1644_Ile1645insArgGly) c.5004_5005insCGCGGC (p.Gly1668_Ile1669insArgGly) | |
| 3 | g.38551312C>A | CA352142544 | SCN5A | c.5057G>T (p.Gly1686Val) c.5060G>T (p.Gly1687Val) c.5006G>T (p.Gly1669Val) c.4898G>T (p.Gly1633Val) c.4961G>T (p.Gly1654Val) c.4931G>T (p.Gly1644Val) c.5003G>T (p.Gly1668Val) | |
| 3 | g.38551312C>G | CA352142546 | SCN5A | c.5057G>C (p.Gly1686Ala) c.5060G>C (p.Gly1687Ala) c.5006G>C (p.Gly1669Ala) c.4898G>C (p.Gly1633Ala) c.4961G>C (p.Gly1654Ala) c.4931G>C (p.Gly1644Ala) c.5003G>C (p.Gly1668Ala) | |
| 3 | g.38551312C>T | CA352142548 | SCN5A | c.5057G>A (p.Gly1686Asp) c.5060G>A (p.Gly1687Asp) c.5006G>A (p.Gly1669Asp) c.4898G>A (p.Gly1633Asp) c.4961G>A (p.Gly1654Asp) c.4931G>A (p.Gly1644Asp) c.5003G>A (p.Gly1668Asp) | ClinVar |
| 3 | g.38551313C>A | CA352142550 | SCN5A | c.5056G>T (p.Gly1686Cys) c.5059G>T (p.Gly1687Cys) c.5005G>T (p.Gly1669Cys) c.4897G>T (p.Gly1633Cys) c.4960G>T (p.Gly1654Cys) c.4930G>T (p.Gly1644Cys) c.5002G>T (p.Gly1668Cys) | |
| 3 | g.38551313C>G | CA352142552 | SCN5A | c.5056G>C (p.Gly1686Arg) c.5059G>C (p.Gly1687Arg) c.5005G>C (p.Gly1669Arg) c.4897G>C (p.Gly1633Arg) c.4960G>C (p.Gly1654Arg) c.4930G>C (p.Gly1644Arg) c.5002G>C (p.Gly1668Arg) | |
| 3 | g.38551313C>T | CA352142554 | SCN5A | c.5056G>A (p.Gly1686Ser) c.5059G>A (p.Gly1687Ser) c.5005G>A (p.Gly1669Ser) c.4897G>A (p.Gly1633Ser) c.4960G>A (p.Gly1654Ser) c.4930G>A (p.Gly1644Ser) c.5002G>A (p.Gly1668Ser) | COSMIC COSMIC COSMIC |
| 3 | g.38551314A>C | CA433332054 | SCN5A | c.5055T>G (p.Ala1685=) c.5058T>G (p.Ala1686=) c.5004T>G (p.Ala1668=) c.4896T>G (p.Ala1632=) c.4959T>G (p.Ala1653=) c.4929T>G (p.Ala1643=) c.5001T>G (p.Ala1667=) | |
| 3 | g.38551314A>G | CA433332055 | SCN5A | c.5055T>C (p.Ala1685=) c.5058T>C (p.Ala1686=) c.5004T>C (p.Ala1668=) c.4896T>C (p.Ala1632=) c.4959T>C (p.Ala1653=) c.4929T>C (p.Ala1643=) c.5001T>C (p.Ala1667=) | |
| 3 | g.38551314A>T | CA433332056 | SCN5A | c.5055T>A (p.Ala1685=) c.5058T>A (p.Ala1686=) c.5004T>A (p.Ala1668=) c.4896T>A (p.Ala1632=) c.4959T>A (p.Ala1653=) c.4929T>A (p.Ala1643=) c.5001T>A (p.Ala1667=) | |
| 3 | g.38551315G>A | CA352142555 | SCN5A | c.5054C>T (p.Ala1685Val) c.5057C>T (p.Ala1686Val) c.5003C>T (p.Ala1668Val) c.4895C>T (p.Ala1632Val) c.4958C>T (p.Ala1653Val) c.4928C>T (p.Ala1643Val) c.5000C>T (p.Ala1667Val) | |
| 3 | g.38551315G>C | CA352142557 | SCN5A | c.5054C>G (p.Ala1685Gly) c.5057C>G (p.Ala1686Gly) c.5003C>G (p.Ala1668Gly) c.4895C>G (p.Ala1632Gly) c.4958C>G (p.Ala1653Gly) c.4928C>G (p.Ala1643Gly) c.5000C>G (p.Ala1667Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38551315G= | CA1358557837 | SCN5A | c.5054C= (p.Ala1685=) c.5057C= (p.Ala1686=) c.5003C= (p.Ala1668=) c.4895C= (p.Ala1632=) c.4958C= (p.Ala1653=) c.4928C= (p.Ala1643=) c.5000C= (p.Ala1667=) | |
| 3 | g.38551315G>T | CA352142559 | SCN5A | c.5054C>A (p.Ala1685Asp) c.5057C>A (p.Ala1686Asp) c.5003C>A (p.Ala1668Asp) c.4895C>A (p.Ala1632Asp) c.4958C>A (p.Ala1653Asp) c.4928C>A (p.Ala1643Asp) c.5000C>A (p.Ala1667Asp) | |
| 3 | g.38551316C>A | CA352142565 | SCN5A | c.5053G>T (p.Ala1685Ser) c.5056G>T (p.Ala1686Ser) c.5002G>T (p.Ala1668Ser) c.4894G>T (p.Ala1632Ser) c.4957G>T (p.Ala1653Ser) c.4927G>T (p.Ala1643Ser) c.4999G>T (p.Ala1667Ser) | gnomAD v4 |
| 3 | g.38551316C>G | CA352142561 | SCN5A | c.5053G>C (p.Ala1685Pro) c.5056G>C (p.Ala1686Pro) c.5002G>C (p.Ala1668Pro) c.4894G>C (p.Ala1632Pro) c.4957G>C (p.Ala1653Pro) c.4927G>C (p.Ala1643Pro) c.4999G>C (p.Ala1667Pro) | gnomAD v4 |
| 3 | g.38551316C>T | CA352142563 | SCN5A | c.5053G>A (p.Ala1685Thr) c.5056G>A (p.Ala1686Thr) c.5002G>A (p.Ala1668Thr) c.4894G>A (p.Ala1632Thr) c.4957G>A (p.Ala1653Thr) c.4927G>A (p.Ala1643Thr) c.4999G>A (p.Ala1667Thr) | |
| 3 | g.38551317C>A | CA352142567 | SCN5A | c.5052G>T (p.Glu1684Asp) c.5055G>T (p.Glu1685Asp) c.5001G>T (p.Glu1667Asp) c.4893G>T (p.Glu1631Asp) c.4956G>T (p.Glu1652Asp) c.4926G>T (p.Glu1642Asp) c.4998G>T (p.Glu1666Asp) | gnomAD v4 |
| 3 | g.38551317C>G | CA352142568 | SCN5A | c.5052G>C (p.Glu1684Asp) c.5055G>C (p.Glu1685Asp) c.5001G>C (p.Glu1667Asp) c.4893G>C (p.Glu1631Asp) c.4956G>C (p.Glu1652Asp) c.4926G>C (p.Glu1642Asp) c.4998G>C (p.Glu1666Asp) | |
| 3 | g.38551317C>T | CA433332058 | SCN5A | c.5052G>A (p.Glu1684=) c.5055G>A (p.Glu1685=) c.5001G>A (p.Glu1667=) c.4893G>A (p.Glu1631=) c.4956G>A (p.Glu1652=) c.4926G>A (p.Glu1642=) c.4998G>A (p.Glu1666=) | |
| 3 | g.38551318T>A | CA352142569 | SCN5A | c.5051A>T (p.Glu1684Val) c.5054A>T (p.Glu1685Val) c.5000A>T (p.Glu1667Val) c.4892A>T (p.Glu1631Val) c.4955A>T (p.Glu1652Val) c.4925A>T (p.Glu1642Val) c.4997A>T (p.Glu1666Val) | gnomAD v4 |
| 3 | g.38551318T>C | CA352142570 | SCN5A | c.5051A>G (p.Glu1684Gly) c.5054A>G (p.Glu1685Gly) c.5000A>G (p.Glu1667Gly) c.4892A>G (p.Glu1631Gly) c.4955A>G (p.Glu1652Gly) c.4925A>G (p.Glu1642Gly) c.4997A>G (p.Glu1666Gly) | |
| 3 | g.38551318T>G | CA352142572 | SCN5A | c.5051A>C (p.Glu1684Ala) c.5054A>C (p.Glu1685Ala) c.5000A>C (p.Glu1667Ala) c.4892A>C (p.Glu1631Ala) c.4955A>C (p.Glu1652Ala) c.4925A>C (p.Glu1642Ala) c.4997A>C (p.Glu1666Ala) | |
| 3 | g.38551319C>A | CA352142574 | SCN5A | c.5050G>T (p.Glu1684Ter) c.5053G>T (p.Glu1685Ter) c.4999G>T (p.Glu1667Ter) c.4891G>T (p.Glu1631Ter) c.4954G>T (p.Glu1652Ter) c.4924G>T (p.Glu1642Ter) c.4996G>T (p.Glu1666Ter) | dbSNP |
| 3 | g.38551319C= | CA1358557840 | SCN5A | c.5050G= (p.Glu1684=) c.5053G= (p.Glu1685=) c.4999G= (p.Glu1667=) c.4891G= (p.Glu1631=) c.4954G= (p.Glu1652=) c.4924G= (p.Glu1642=) c.4996G= (p.Glu1666=) | |
| 3 | g.38551319C>G | CA352142575 | SCN5A | c.5050G>C (p.Glu1684Gln) c.5053G>C (p.Glu1685Gln) c.4999G>C (p.Glu1667Gln) c.4891G>C (p.Glu1631Gln) c.4954G>C (p.Glu1652Gln) c.4924G>C (p.Glu1642Gln) c.4996G>C (p.Glu1666Gln) | |
| 3 | g.38551319C>T | CA352142577 | SCN5A | c.5050G>A (p.Glu1684Lys) c.5053G>A (p.Glu1685Lys) c.4999G>A (p.Glu1667Lys) c.4891G>A (p.Glu1631Lys) c.4954G>A (p.Glu1652Lys) c.4924G>A (p.Glu1642Lys) c.4996G>A (p.Glu1666Lys) | dbSNP |
| 3 | g.38551320C>A | CA352142580 | SCN5A | c.5049G>T (p.Trp1683Cys) c.5052G>T (p.Trp1684Cys) c.4998G>T (p.Trp1666Cys) c.4890G>T (p.Trp1630Cys) c.4953G>T (p.Trp1651Cys) c.4923G>T (p.Trp1641Cys) c.4995G>T (p.Trp1665Cys) | |
| 3 | g.38551320C= | CA1358557842 | SCN5A | c.5049G= (p.Trp1683=) c.5052G= (p.Trp1684=) c.4998G= (p.Trp1666=) c.4890G= (p.Trp1630=) c.4953G= (p.Trp1651=) c.4923G= (p.Trp1641=) c.4995G= (p.Trp1665=) | |
| 3 | g.38551320C>G | CA352142581 | SCN5A | c.5049G>C (p.Trp1683Cys) c.5052G>C (p.Trp1684Cys) c.4998G>C (p.Trp1666Cys) c.4890G>C (p.Trp1630Cys) c.4953G>C (p.Trp1651Cys) c.4923G>C (p.Trp1641Cys) c.4995G>C (p.Trp1665Cys) | |
| 3 | g.38551320C>T | CA352142583 | SCN5A | c.5049G>A (p.Trp1683Ter) c.5052G>A (p.Trp1684Ter) c.4998G>A (p.Trp1666Ter) c.4890G>A (p.Trp1630Ter) c.4953G>A (p.Trp1651Ter) c.4923G>A (p.Trp1641Ter) c.4995G>A (p.Trp1665Ter) | dbSNP |
| 3 | g.38551321C>A | CA352142587 | SCN5A | c.5048G>T (p.Trp1683Leu) c.5051G>T (p.Trp1684Leu) c.4997G>T (p.Trp1666Leu) c.4889G>T (p.Trp1630Leu) c.4952G>T (p.Trp1651Leu) c.4922G>T (p.Trp1641Leu) c.4994G>T (p.Trp1665Leu) | |
| 3 | g.38551321C>G | CA352142589 | SCN5A | c.5048G>C (p.Trp1683Ser) c.5051G>C (p.Trp1684Ser) c.4997G>C (p.Trp1666Ser) c.4889G>C (p.Trp1630Ser) c.4952G>C (p.Trp1651Ser) c.4922G>C (p.Trp1641Ser) c.4994G>C (p.Trp1665Ser) | |
| 3 | g.38551321C>T | CA352142585 | SCN5A | c.5048G>A (p.Trp1683Ter) c.5051G>A (p.Trp1684Ter) c.4997G>A (p.Trp1666Ter) c.4889G>A (p.Trp1630Ter) c.4952G>A (p.Trp1651Ter) c.4922G>A (p.Trp1641Ter) c.4994G>A (p.Trp1665Ter) | |
| 3 | g.38551322A= | CA1358557844 | SCN5A | c.5047T= (p.Trp1683=) c.5050T= (p.Trp1684=) c.4996T= (p.Trp1666=) c.4888T= (p.Trp1630=) c.4951T= (p.Trp1651=) c.4921T= (p.Trp1641=) c.4993T= (p.Trp1665=) | |
| 3 | g.38551322A>C | CA352142595 | SCN5A | c.5047T>G (p.Trp1683Gly) c.5050T>G (p.Trp1684Gly) c.4996T>G (p.Trp1666Gly) c.4888T>G (p.Trp1630Gly) c.4951T>G (p.Trp1651Gly) c.4921T>G (p.Trp1641Gly) c.4993T>G (p.Trp1665Gly) | ClinVar |
| 3 | g.38551322A>G | CA352142591 | SCN5A | c.5047T>C (p.Trp1683Arg) c.5050T>C (p.Trp1684Arg) c.4996T>C (p.Trp1666Arg) c.4888T>C (p.Trp1630Arg) c.4951T>C (p.Trp1651Arg) c.4921T>C (p.Trp1641Arg) c.4993T>C (p.Trp1665Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38551322A>T | CA352142593 | SCN5A | c.5047T>A (p.Trp1683Arg) c.5050T>A (p.Trp1684Arg) c.4996T>A (p.Trp1666Arg) c.4888T>A (p.Trp1630Arg) c.4951T>A (p.Trp1651Arg) c.4921T>A (p.Trp1641Arg) c.4993T>A (p.Trp1665Arg) | |
| 3 | g.38551323C>A | CA352142597 | SCN5A | c.5046G>T (p.Lys1682Asn) c.5049G>T (p.Lys1683Asn) c.4995G>T (p.Lys1665Asn) c.4887G>T (p.Lys1629Asn) c.4950G>T (p.Lys1650Asn) c.4920G>T (p.Lys1640Asn) c.4992G>T (p.Lys1664Asn) | |
| 3 | g.38551323C>G | CA352142598 | SCN5A | c.5046G>C (p.Lys1682Asn) c.5049G>C (p.Lys1683Asn) c.4995G>C (p.Lys1665Asn) c.4887G>C (p.Lys1629Asn) c.4950G>C (p.Lys1650Asn) c.4920G>C (p.Lys1640Asn) c.4992G>C (p.Lys1664Asn) | |
| 3 | g.38551323C>T | CA433332063 | SCN5A | c.5046G>A (p.Lys1682=) c.5049G>A (p.Lys1683=) c.4995G>A (p.Lys1665=) c.4887G>A (p.Lys1629=) c.4950G>A (p.Lys1650=) c.4920G>A (p.Lys1640=) c.4992G>A (p.Lys1664=) | gnomAD v4 |
| 3 | g.38551324T>A | CA352142601 | SCN5A | c.5045A>T (p.Lys1682Met) c.5048A>T (p.Lys1683Met) c.4994A>T (p.Lys1665Met) c.4886A>T (p.Lys1629Met) c.4949A>T (p.Lys1650Met) c.4919A>T (p.Lys1640Met) c.4991A>T (p.Lys1664Met) | |
| 3 | g.38551324T>C | CA352142602 | SCN5A | c.5045A>G (p.Lys1682Arg) c.5048A>G (p.Lys1683Arg) c.4994A>G (p.Lys1665Arg) c.4886A>G (p.Lys1629Arg) c.4949A>G (p.Lys1650Arg) c.4919A>G (p.Lys1640Arg) c.4991A>G (p.Lys1664Arg) | |
| 3 | g.38551324T>G | CA352142603 | SCN5A | c.5045A>C (p.Lys1682Thr) c.5048A>C (p.Lys1683Thr) c.4994A>C (p.Lys1665Thr) c.4886A>C (p.Lys1629Thr) c.4949A>C (p.Lys1650Thr) c.4919A>C (p.Lys1640Thr) c.4991A>C (p.Lys1664Thr) | |
| 3 | g.38551325T>A | CA352142605 | SCN5A | c.5044A>T (p.Lys1682Ter) c.5047A>T (p.Lys1683Ter) c.4993A>T (p.Lys1665Ter) c.4885A>T (p.Lys1629Ter) c.4948A>T (p.Lys1650Ter) c.4918A>T (p.Lys1640Ter) c.4990A>T (p.Lys1664Ter) | dbSNP |
| 3 | g.38551325T>C | CA352142607 | SCN5A | c.5044A>G (p.Lys1682Glu) c.5047A>G (p.Lys1683Glu) c.4993A>G (p.Lys1665Glu) c.4885A>G (p.Lys1629Glu) c.4948A>G (p.Lys1650Glu) c.4918A>G (p.Lys1640Glu) c.4990A>G (p.Lys1664Glu) | |
| 3 | g.38551325T>G | CA352142608 | SCN5A | c.5044A>C (p.Lys1682Gln) c.5047A>C (p.Lys1683Gln) c.4993A>C (p.Lys1665Gln) c.4885A>C (p.Lys1629Gln) c.4948A>C (p.Lys1650Gln) c.4918A>C (p.Lys1640Gln) c.4990A>C (p.Lys1664Gln) | |
| 3 | g.38551325T= | CA1358557846 | SCN5A | c.5044A= (p.Lys1682=) c.5047A= (p.Lys1683=) c.4993A= (p.Lys1665=) c.4885A= (p.Lys1629=) c.4948A= (p.Lys1650=) c.4918A= (p.Lys1640=) c.4990A= (p.Lys1664=) | |
| 3 | g.38551326G>A | CA433332065 | SCN5A | c.5043C>T (p.Val1681=) c.5046C>T (p.Val1682=) c.4992C>T (p.Val1664=) c.4884C>T (p.Val1628=) c.4947C>T (p.Val1649=) c.4917C>T (p.Val1639=) c.4989C>T (p.Val1663=) | |
| 3 | g.38551326G>C | CA433332066 | SCN5A | c.5043C>G (p.Val1681=) c.5046C>G (p.Val1682=) c.4992C>G (p.Val1664=) c.4884C>G (p.Val1628=) c.4947C>G (p.Val1649=) c.4917C>G (p.Val1639=) c.4989C>G (p.Val1663=) | |
| 3 | g.38551326G>T | CA433332067 | SCN5A | c.5043C>A (p.Val1681=) c.5046C>A (p.Val1682=) c.4992C>A (p.Val1664=) c.4884C>A (p.Val1628=) c.4947C>A (p.Val1649=) c.4917C>A (p.Val1639=) c.4989C>A (p.Val1663=) | |
| 3 | g.38551327A>C | CA352142610 | SCN5A | c.5042T>G (p.Val1681Gly) c.5045T>G (p.Val1682Gly) c.4991T>G (p.Val1664Gly) c.4883T>G (p.Val1628Gly) c.4946T>G (p.Val1649Gly) c.4916T>G (p.Val1639Gly) c.4988T>G (p.Val1663Gly) | |
| 3 | g.38551327A>G | CA352142612 | SCN5A | c.5042T>C (p.Val1681Ala) c.5045T>C (p.Val1682Ala) c.4991T>C (p.Val1664Ala) c.4883T>C (p.Val1628Ala) c.4946T>C (p.Val1649Ala) c.4916T>C (p.Val1639Ala) c.4988T>C (p.Val1663Ala) | |
| 3 | g.38551327A>T | CA352142614 | SCN5A | c.5042T>A (p.Val1681Asp) c.5045T>A (p.Val1682Asp) c.4991T>A (p.Val1664Asp) c.4883T>A (p.Val1628Asp) c.4946T>A (p.Val1649Asp) c.4916T>A (p.Val1639Asp) c.4988T>A (p.Val1663Asp) | ClinVar gnomAD v4 |
| 3 | g.38551328C>A | CA352142620 | SCN5A | c.5041G>T (p.Val1681Phe) c.5044G>T (p.Val1682Phe) c.4990G>T (p.Val1664Phe) c.4882G>T (p.Val1628Phe) c.4945G>T (p.Val1649Phe) c.4915G>T (p.Val1639Phe) c.4987G>T (p.Val1663Phe) | |
| 3 | g.38551328C>G | CA352142618 | SCN5A | c.5041G>C (p.Val1681Leu) c.5044G>C (p.Val1682Leu) c.4990G>C (p.Val1664Leu) c.4882G>C (p.Val1628Leu) c.4945G>C (p.Val1649Leu) c.4915G>C (p.Val1639Leu) c.4987G>C (p.Val1663Leu) | |
| 3 | g.38551328C>T | CA352142617 | SCN5A | c.5041G>A (p.Val1681Ile) c.5044G>A (p.Val1682Ile) c.4990G>A (p.Val1664Ile) c.4882G>A (p.Val1628Ile) c.4945G>A (p.Val1649Ile) c.4915G>A (p.Val1639Ile) c.4987G>A (p.Val1663Ile) | gnomAD v4 |
| 3 | g.38551329A= | CA1358557848 | SCN5A | c.5040T= (p.Tyr1680=) c.5043T= (p.Tyr1681=) c.4989T= (p.Tyr1663=) c.4881T= (p.Tyr1627=) c.4944T= (p.Tyr1648=) c.4914T= (p.Tyr1638=) c.4986T= (p.Tyr1662=) | |
| 3 | g.38551329A>C | CA352142623 | SCN5A | c.5040T>G (p.Tyr1680Ter) c.5043T>G (p.Tyr1681Ter) c.4989T>G (p.Tyr1663Ter) c.4881T>G (p.Tyr1627Ter) c.4944T>G (p.Tyr1648Ter) c.4914T>G (p.Tyr1638Ter) c.4986T>G (p.Tyr1662Ter) | |
| 3 | g.38551329A>G | CA433332069 | SCN5A | c.5040T>C (p.Tyr1680=) c.5043T>C (p.Tyr1681=) c.4989T>C (p.Tyr1663=) c.4881T>C (p.Tyr1627=) c.4944T>C (p.Tyr1648=) c.4914T>C (p.Tyr1638=) c.4986T>C (p.Tyr1662=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38551329A>T | CA352142624 | SCN5A | c.5040T>A (p.Tyr1680Ter) c.5043T>A (p.Tyr1681Ter) c.4989T>A (p.Tyr1663Ter) c.4881T>A (p.Tyr1627Ter) c.4944T>A (p.Tyr1648Ter) c.4914T>A (p.Tyr1638Ter) c.4986T>A (p.Tyr1662Ter) | |
| 3 | g.38551330_38551332del | CA2573332691 | SCN5A | c.5038_5040del (p.Tyr1680del) c.5041_5043del (p.Tyr1681del) c.4987_4989del (p.Tyr1663del) c.4879_4881del (p.Tyr1627del) c.4942_4944del (p.Tyr1648del) c.4912_4914del (p.Tyr1638del) c.4984_4986del (p.Tyr1662del) | |
| 3 | g.38551330T>A | CA064087 | SCN5A | c.5039A>T (p.Tyr1680Phe) c.5042A>T (p.Tyr1681Phe) c.4988A>T (p.Tyr1663Phe) c.4880A>T (p.Tyr1627Phe) c.4943A>T (p.Tyr1648Phe) c.4913A>T (p.Tyr1638Phe) c.4985A>T (p.Tyr1662Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38551330T>C | CA352142627 | SCN5A | c.5039A>G (p.Tyr1680Cys) c.5042A>G (p.Tyr1681Cys) c.4988A>G (p.Tyr1663Cys) c.4880A>G (p.Tyr1627Cys) c.4943A>G (p.Tyr1648Cys) c.4913A>G (p.Tyr1638Cys) c.4985A>G (p.Tyr1662Cys) | ClinVar |
| 3 | g.38551330T>G | CA352142629 | SCN5A | c.5039A>C (p.Tyr1680Ser) c.5042A>C (p.Tyr1681Ser) c.4988A>C (p.Tyr1663Ser) c.4880A>C (p.Tyr1627Ser) c.4943A>C (p.Tyr1648Ser) c.4913A>C (p.Tyr1638Ser) c.4985A>C (p.Tyr1662Ser) | |
| 3 | g.38551330T= | CA1358557851 | SCN5A | c.5039A= (p.Tyr1680=) c.5042A= (p.Tyr1681=) c.4988A= (p.Tyr1663=) c.4880A= (p.Tyr1627=) c.4943A= (p.Tyr1648=) c.4913A= (p.Tyr1638=) c.4985A= (p.Tyr1662=) | |
| 3 | g.38551330_38551332delinsG | CA2586965822 | SCN5A | c.5037_5039delinsC (p.Tyr1680CysfsTer?) c.5040_5042delinsC (p.Tyr1681CysfsTer?) c.4986_4988delinsC (p.Tyr1663CysfsTer?) c.4878_4880delinsC (p.Tyr1627CysfsTer?) c.4941_4943delinsC (p.Tyr1648CysfsTer?) c.4911_4913delinsC (p.Tyr1638CysfsTer?) c.4983_4985delinsC (p.Tyr1662CysfsTer?) | |
| 3 | g.38551331A>C | CA352142631 | SCN5A | c.5038T>G (p.Tyr1680Asp) c.5041T>G (p.Tyr1681Asp) c.4987T>G (p.Tyr1663Asp) c.4879T>G (p.Tyr1627Asp) c.4942T>G (p.Tyr1648Asp) c.4912T>G (p.Tyr1638Asp) c.4984T>G (p.Tyr1662Asp) | |
| 3 | g.38551331A>G | CA352142633 | SCN5A | c.5038T>C (p.Tyr1680His) c.5041T>C (p.Tyr1681His) c.4987T>C (p.Tyr1663His) c.4879T>C (p.Tyr1627His) c.4942T>C (p.Tyr1648His) c.4912T>C (p.Tyr1638His) c.4984T>C (p.Tyr1662His) | |
| 3 | g.38551331A>T | CA352142635 | SCN5A | c.5038T>A (p.Tyr1680Asn) c.5041T>A (p.Tyr1681Asn) c.4987T>A (p.Tyr1663Asn) c.4879T>A (p.Tyr1627Asn) c.4942T>A (p.Tyr1648Asn) c.4912T>A (p.Tyr1638Asn) c.4984T>A (p.Tyr1662Asn) | |
| 3 | g.38551332A>C | CA433332076 | SCN5A | c.5037T>G (p.Ala1679=) c.5040T>G (p.Ala1680=) c.4986T>G (p.Ala1662=) c.4878T>G (p.Ala1626=) c.4941T>G (p.Ala1647=) c.4911T>G (p.Ala1637=) c.4983T>G (p.Ala1661=) | |
| 3 | g.38551332A>G | CA433332077 | SCN5A | c.5037T>C (p.Ala1679=) c.5040T>C (p.Ala1680=) c.4986T>C (p.Ala1662=) c.4878T>C (p.Ala1626=) c.4941T>C (p.Ala1647=) c.4911T>C (p.Ala1637=) c.4983T>C (p.Ala1661=) | ClinVar |
| 3 | g.38551332A>T | CA433332080 | SCN5A | c.5037T>A (p.Ala1679=) c.5040T>A (p.Ala1680=) c.4986T>A (p.Ala1662=) c.4878T>A (p.Ala1626=) c.4941T>A (p.Ala1647=) c.4911T>A (p.Ala1637=) c.4983T>A (p.Ala1661=) | |
| 3 | g.38551333G>A | CA352142637 | SCN5A | c.5036C>T (p.Ala1679Val) c.5039C>T (p.Ala1680Val) c.4985C>T (p.Ala1662Val) c.4877C>T (p.Ala1626Val) c.4940C>T (p.Ala1647Val) c.4910C>T (p.Ala1637Val) c.4982C>T (p.Ala1661Val) | |
| 3 | g.38551333G>C | CA352142639 | SCN5A | c.5036C>G (p.Ala1679Gly) c.5039C>G (p.Ala1680Gly) c.4985C>G (p.Ala1662Gly) c.4877C>G (p.Ala1626Gly) c.4940C>G (p.Ala1647Gly) c.4910C>G (p.Ala1637Gly) c.4982C>G (p.Ala1661Gly) | |
| 3 | g.38551333G>T | CA352142641 | SCN5A | c.5036C>A (p.Ala1679Asp) c.5039C>A (p.Ala1680Asp) c.4985C>A (p.Ala1662Asp) c.4877C>A (p.Ala1626Asp) c.4940C>A (p.Ala1647Asp) c.4910C>A (p.Ala1637Asp) c.4982C>A (p.Ala1661Asp) | |
| 3 | g.38551334C>A | CA352142643 | SCN5A | c.5035G>T (p.Ala1679Ser) c.5038G>T (p.Ala1680Ser) c.4984G>T (p.Ala1662Ser) c.4876G>T (p.Ala1626Ser) c.4939G>T (p.Ala1647Ser) c.4909G>T (p.Ala1637Ser) c.4981G>T (p.Ala1661Ser) | |
| 3 | g.38551334C= | CA1358557858 | SCN5A | c.5035G= (p.Ala1679=) c.5038G= (p.Ala1680=) c.4984G= (p.Ala1662=) c.4876G= (p.Ala1626=) c.4939G= (p.Ala1647=) c.4909G= (p.Ala1637=) c.4981G= (p.Ala1661=) | |
| 3 | g.38551334C>G | CA352142645 | SCN5A | c.5035G>C (p.Ala1679Pro) c.5038G>C (p.Ala1680Pro) c.4984G>C (p.Ala1662Pro) c.4876G>C (p.Ala1626Pro) c.4939G>C (p.Ala1647Pro) c.4909G>C (p.Ala1637Pro) c.4981G>C (p.Ala1661Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38551334C>T | CA018863 | SCN5A | c.5035G>A (p.Ala1679Thr) c.5038G>A (p.Ala1680Thr) c.4984G>A (p.Ala1662Thr) c.4876G>A (p.Ala1626Thr) c.4939G>A (p.Ala1647Thr) c.4909G>A (p.Ala1637Thr) c.4981G>A (p.Ala1661Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.38551335G>A | CA72938199 | SCN5A | c.5034C>T (p.Phe1678=) c.5037C>T (p.Phe1679=) c.4983C>T (p.Phe1661=) c.4875C>T (p.Phe1625=) c.4938C>T (p.Phe1646=) c.4908C>T (p.Phe1636=) c.4980C>T (p.Phe1660=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.38551335G>C | CA352142650 | SCN5A | c.5034C>G (p.Phe1678Leu) c.5037C>G (p.Phe1679Leu) c.4983C>G (p.Phe1661Leu) c.4875C>G (p.Phe1625Leu) c.4938C>G (p.Phe1646Leu) c.4908C>G (p.Phe1636Leu) c.4980C>G (p.Phe1660Leu) | |
| 3 | g.38551335G= | CA1358557865 | SCN5A | c.5034C= (p.Phe1678=) c.5037C= (p.Phe1679=) c.4983C= (p.Phe1661=) c.4875C= (p.Phe1625=) c.4938C= (p.Phe1646=) c.4908C= (p.Phe1636=) c.4980C= (p.Phe1660=) | |
| 3 | g.38551335G>T | CA352142647 | SCN5A | c.5034C>A (p.Phe1678Leu) c.5037C>A (p.Phe1679Leu) c.4983C>A (p.Phe1661Leu) c.4875C>A (p.Phe1625Leu) c.4938C>A (p.Phe1646Leu) c.4908C>A (p.Phe1636Leu) c.4980C>A (p.Phe1660Leu) | |
| 3 | g.38551336A>C | CA352142651 | SCN5A | c.5033T>G (p.Phe1678Cys) c.5036T>G (p.Phe1679Cys) c.4982T>G (p.Phe1661Cys) c.4874T>G (p.Phe1625Cys) c.4937T>G (p.Phe1646Cys) c.4907T>G (p.Phe1636Cys) c.4979T>G (p.Phe1660Cys) | |
| 3 | g.38551336A>G | CA352142652 | SCN5A | c.5033T>C (p.Phe1678Ser) c.5036T>C (p.Phe1679Ser) c.4982T>C (p.Phe1661Ser) c.4874T>C (p.Phe1625Ser) c.4937T>C (p.Phe1646Ser) c.4907T>C (p.Phe1636Ser) c.4979T>C (p.Phe1660Ser) | |
| 3 | g.38551336A>T | CA352142655 | SCN5A | c.5033T>A (p.Phe1678Tyr) c.5036T>A (p.Phe1679Tyr) c.4982T>A (p.Phe1661Tyr) c.4874T>A (p.Phe1625Tyr) c.4937T>A (p.Phe1646Tyr) c.4907T>A (p.Phe1636Tyr) c.4979T>A (p.Phe1660Tyr) | |
| 3 | g.38551337A>C | CA352142657 | SCN5A | c.5032T>G (p.Phe1678Val) c.5035T>G (p.Phe1679Val) c.4981T>G (p.Phe1661Val) c.4873T>G (p.Phe1625Val) c.4936T>G (p.Phe1646Val) c.4906T>G (p.Phe1636Val) c.4978T>G (p.Phe1660Val) | |
| 3 | g.38551337A>G | CA352142658 | SCN5A | c.5032T>C (p.Phe1678Leu) c.5035T>C (p.Phe1679Leu) c.4981T>C (p.Phe1661Leu) c.4873T>C (p.Phe1625Leu) c.4936T>C (p.Phe1646Leu) c.4906T>C (p.Phe1636Leu) c.4978T>C (p.Phe1660Leu) | |
| 3 | g.38551337A>T | CA352142660 | SCN5A | c.5032T>A (p.Phe1678Ile) c.5035T>A (p.Phe1679Ile) c.4981T>A (p.Phe1661Ile) c.4873T>A (p.Phe1625Ile) c.4936T>A (p.Phe1646Ile) c.4906T>A (p.Phe1636Ile) c.4978T>A (p.Phe1660Ile) | ClinVar |
| 3 | g.38551338G>A | CA433332091 | SCN5A | c.5031C>T (p.Asn1677=) c.5034C>T (p.Asn1678=) c.4980C>T (p.Asn1660=) c.4872C>T (p.Asn1624=) c.4935C>T (p.Asn1645=) c.4905C>T (p.Asn1635=) c.4977C>T (p.Asn1659=) | |
| 3 | g.38551338G>C | CA352142662 | SCN5A | c.5031C>G (p.Asn1677Lys) c.5034C>G (p.Asn1678Lys) c.4980C>G (p.Asn1660Lys) c.4872C>G (p.Asn1624Lys) c.4935C>G (p.Asn1645Lys) c.4905C>G (p.Asn1635Lys) c.4977C>G (p.Asn1659Lys) | |
| 3 | g.38551338G>T | CA352142664 | SCN5A | c.5031C>A (p.Asn1677Lys) c.5034C>A (p.Asn1678Lys) c.4980C>A (p.Asn1660Lys) c.4872C>A (p.Asn1624Lys) c.4935C>A (p.Asn1645Lys) c.4905C>A (p.Asn1635Lys) c.4977C>A (p.Asn1659Lys) | |
| 3 | g.38551339T>A | CA352142666 | SCN5A | c.5030A>T (p.Asn1677Ile) c.5033A>T (p.Asn1678Ile) c.4979A>T (p.Asn1660Ile) c.4871A>T (p.Asn1624Ile) c.4934A>T (p.Asn1645Ile) c.4904A>T (p.Asn1635Ile) c.4976A>T (p.Asn1659Ile) | |
| 3 | g.38551339T>C | CA064075 | SCN5A | c.5030A>G (p.Asn1677Ser) c.5033A>G (p.Asn1678Ser) c.4979A>G (p.Asn1660Ser) c.4871A>G (p.Asn1624Ser) c.4934A>G (p.Asn1645Ser) c.4904A>G (p.Asn1635Ser) c.4976A>G (p.Asn1659Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38551339T>G | CA352142668 | SCN5A | c.5030A>C (p.Asn1677Thr) c.5033A>C (p.Asn1678Thr) c.4979A>C (p.Asn1660Thr) c.4871A>C (p.Asn1624Thr) c.4934A>C (p.Asn1645Thr) c.4904A>C (p.Asn1635Thr) c.4976A>C (p.Asn1659Thr) | |
| 3 | g.38551339T= | CA1358557871 | SCN5A | c.5030A= (p.Asn1677=) c.5033A= (p.Asn1678=) c.4979A= (p.Asn1660=) c.4871A= (p.Asn1624=) c.4934A= (p.Asn1645=) c.4904A= (p.Asn1635=) c.4976A= (p.Asn1659=) | |
| 3 | g.38551340T>A | CA352142674 | SCN5A | c.5029A>T (p.Asn1677Tyr) c.5032A>T (p.Asn1678Tyr) c.4978A>T (p.Asn1660Tyr) c.4870A>T (p.Asn1624Tyr) c.4933A>T (p.Asn1645Tyr) c.4903A>T (p.Asn1635Tyr) c.4975A>T (p.Asn1659Tyr) | |
| 3 | g.38551340T>C | CA352142673 | SCN5A | c.5029A>G (p.Asn1677Asp) c.5032A>G (p.Asn1678Asp) c.4978A>G (p.Asn1660Asp) c.4870A>G (p.Asn1624Asp) c.4933A>G (p.Asn1645Asp) c.4903A>G (p.Asn1635Asp) c.4975A>G (p.Asn1659Asp) | |
| 3 | g.38551340T>G | CA352142671 | SCN5A | c.5029A>C (p.Asn1677His) c.5032A>C (p.Asn1678His) c.4978A>C (p.Asn1660His) c.4870A>C (p.Asn1624His) c.4933A>C (p.Asn1645His) c.4903A>C (p.Asn1635His) c.4975A>C (p.Asn1659His) | |
| 3 | g.38551341G>A | CA433332093 | SCN5A | c.5028C>T (p.Ala1676=) c.5031C>T (p.Ala1677=) c.4977C>T (p.Ala1659=) c.4869C>T (p.Ala1623=) c.4932C>T (p.Ala1644=) c.4902C>T (p.Ala1634=) c.4974C>T (p.Ala1658=) | COSMIC COSMIC COSMIC |
| 3 | g.38551341G>C | CA433332095 | SCN5A | c.5028C>G (p.Ala1676=) c.5031C>G (p.Ala1677=) c.4977C>G (p.Ala1659=) c.4869C>G (p.Ala1623=) c.4932C>G (p.Ala1644=) c.4902C>G (p.Ala1634=) c.4974C>G (p.Ala1658=) | |
| 3 | g.38551341G>T | CA433332096 | SCN5A | c.5028C>A (p.Ala1676=) c.5031C>A (p.Ala1677=) c.4977C>A (p.Ala1659=) c.4869C>A (p.Ala1623=) c.4932C>A (p.Ala1644=) c.4902C>A (p.Ala1634=) c.4974C>A (p.Ala1658=) | |
| 3 | g.38551342G>A | CA352142676 | SCN5A | c.5027C>T (p.Ala1676Val) c.5030C>T (p.Ala1677Val) c.4976C>T (p.Ala1659Val) c.4868C>T (p.Ala1623Val) c.4931C>T (p.Ala1644Val) c.4901C>T (p.Ala1634Val) c.4973C>T (p.Ala1658Val) | |
| 3 | g.38551342G>C | CA352142678 | SCN5A | c.5027C>G (p.Ala1676Gly) c.5030C>G (p.Ala1677Gly) c.4976C>G (p.Ala1659Gly) c.4868C>G (p.Ala1623Gly) c.4931C>G (p.Ala1644Gly) c.4901C>G (p.Ala1634Gly) c.4973C>G (p.Ala1658Gly) | |
| 3 | g.38551342G>T | CA352142680 | SCN5A | c.5027C>A (p.Ala1676Asp) c.5030C>A (p.Ala1677Asp) c.4976C>A (p.Ala1659Asp) c.4868C>A (p.Ala1623Asp) c.4931C>A (p.Ala1644Asp) c.4901C>A (p.Ala1634Asp) c.4973C>A (p.Ala1658Asp) | |
| 3 | g.38551343C>A | CA352142682 | SCN5A | c.5026G>T (p.Ala1676Ser) c.5029G>T (p.Ala1677Ser) c.4975G>T (p.Ala1659Ser) c.4867G>T (p.Ala1623Ser) c.4930G>T (p.Ala1644Ser) c.4900G>T (p.Ala1634Ser) c.4972G>T (p.Ala1658Ser) | |
| 3 | g.38551343C>G | CA352142684 | SCN5A | c.5026G>C (p.Ala1676Pro) c.5029G>C (p.Ala1677Pro) c.4975G>C (p.Ala1659Pro) c.4867G>C (p.Ala1623Pro) c.4930G>C (p.Ala1644Pro) c.4900G>C (p.Ala1634Pro) c.4972G>C (p.Ala1658Pro) | ClinVar |
| 3 | g.38551343C>T | CA352142686 | SCN5A | c.5026G>A (p.Ala1676Thr) c.5029G>A (p.Ala1677Thr) c.4975G>A (p.Ala1659Thr) c.4867G>A (p.Ala1623Thr) c.4930G>A (p.Ala1644Thr) c.4900G>A (p.Ala1634Thr) c.4972G>A (p.Ala1658Thr) | COSMIC COSMIC COSMIC |
| 3 | g.38551344C>A | CA352142688 | SCN5A | c.5025G>T (p.Met1675Ile) c.5028G>T (p.Met1676Ile) c.4974G>T (p.Met1658Ile) c.4866G>T (p.Met1622Ile) c.4929G>T (p.Met1643Ile) c.4899G>T (p.Met1633Ile) c.4971G>T (p.Met1657Ile) | |
| 3 | g.38551344C= | CA1358557874 | SCN5A | c.5025G= (p.Met1675=) c.5028G= (p.Met1676=) c.4974G= (p.Met1658=) c.4866G= (p.Met1622=) c.4929G= (p.Met1643=) c.4899G= (p.Met1633=) c.4971G= (p.Met1657=) | |
| 3 | g.38551344C>G | CA352142690 | SCN5A | c.5025G>C (p.Met1675Ile) c.5028G>C (p.Met1676Ile) c.4974G>C (p.Met1658Ile) c.4866G>C (p.Met1622Ile) c.4929G>C (p.Met1643Ile) c.4899G>C (p.Met1633Ile) c.4971G>C (p.Met1657Ile) | |
| 3 | g.38551344C>T | CA064068 | SCN5A | c.5025G>A (p.Met1675Ile) c.5028G>A (p.Met1676Ile) c.4974G>A (p.Met1658Ile) c.4866G>A (p.Met1622Ile) c.4929G>A (p.Met1643Ile) c.4899G>A (p.Met1633Ile) c.4971G>A (p.Met1657Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 3 | g.38551345A= | CA1358557878 | SCN5A | c.5024T= (p.Met1675=) c.5027T= (p.Met1676=) c.4973T= (p.Met1658=) c.4865T= (p.Met1622=) c.4928T= (p.Met1643=) c.4898T= (p.Met1633=) c.4970T= (p.Met1657=) | |
| 3 | g.38551345A>C | CA352142693 | SCN5A | c.5024T>G (p.Met1675Arg) c.5027T>G (p.Met1676Arg) c.4973T>G (p.Met1658Arg) c.4865T>G (p.Met1622Arg) c.4928T>G (p.Met1643Arg) c.4898T>G (p.Met1633Arg) c.4970T>G (p.Met1657Arg) | |
| 3 | g.38551345A>G | CA018860 | SCN5A | c.5024T>C (p.Met1675Thr) c.5027T>C (p.Met1676Thr) c.4973T>C (p.Met1658Thr) c.4865T>C (p.Met1622Thr) c.4928T>C (p.Met1643Thr) c.4898T>C (p.Met1633Thr) c.4970T>C (p.Met1657Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38551345A>T | CA352142695 | SCN5A | c.5024T>A (p.Met1675Lys) c.5027T>A (p.Met1676Lys) c.4973T>A (p.Met1658Lys) c.4865T>A (p.Met1622Lys) c.4928T>A (p.Met1643Lys) c.4898T>A (p.Met1633Lys) c.4970T>A (p.Met1657Lys) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38551346T>A | CA352142700 | SCN5A | c.5023A>T (p.Met1675Leu) c.5026A>T (p.Met1676Leu) c.4972A>T (p.Met1658Leu) c.4864A>T (p.Met1622Leu) c.4927A>T (p.Met1643Leu) c.4897A>T (p.Met1633Leu) c.4969A>T (p.Met1657Leu) | |
| 3 | g.38551346T>C | CA018854 | SCN5A | c.5023A>G (p.Met1675Val) c.5026A>G (p.Met1676Val) c.4972A>G (p.Met1658Val) c.4864A>G (p.Met1622Val) c.4927A>G (p.Met1643Val) c.4897A>G (p.Met1633Val) c.4969A>G (p.Met1657Val) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38551346T>G | CA352142697 | SCN5A | c.5023A>C (p.Met1675Leu) c.5026A>C (p.Met1676Leu) c.4972A>C (p.Met1658Leu) c.4864A>C (p.Met1622Leu) c.4927A>C (p.Met1643Leu) c.4897A>C (p.Met1633Leu) c.4969A>C (p.Met1657Leu) | |
| 3 | g.38551346T= | CA1358557886 | SCN5A | c.5023A= (p.Met1675=) c.5026A= (p.Met1676=) c.4972A= (p.Met1658=) c.4864A= (p.Met1622=) c.4927A= (p.Met1643=) c.4897A= (p.Met1633=) c.4969A= (p.Met1657=) | |
| 3 | g.38551347G>A | CA433332102 | SCN5A | c.5022C>T (p.Gly1674=) c.5025C>T (p.Gly1675=) c.4971C>T (p.Gly1657=) c.4863C>T (p.Gly1621=) c.4926C>T (p.Gly1642=) c.4896C>T (p.Gly1632=) c.4968C>T (p.Gly1656=) | dbSNP gnomAD v2 |
| 3 | g.38551347G>C | CA433332103 | SCN5A | c.5022C>G (p.Gly1674=) c.5025C>G (p.Gly1675=) c.4971C>G (p.Gly1657=) c.4863C>G (p.Gly1621=) c.4926C>G (p.Gly1642=) c.4896C>G (p.Gly1632=) c.4968C>G (p.Gly1656=) | |
| 3 | g.38551347G= | CA1358557889 | SCN5A | c.5022C= (p.Gly1674=) c.5025C= (p.Gly1675=) c.4971C= (p.Gly1657=) c.4863C= (p.Gly1621=) c.4926C= (p.Gly1642=) c.4896C= (p.Gly1632=) c.4968C= (p.Gly1656=) | |
| 3 | g.38551347G>T | CA433332104 | SCN5A | c.5022C>A (p.Gly1674=) c.5025C>A (p.Gly1675=) c.4971C>A (p.Gly1657=) c.4863C>A (p.Gly1621=) c.4926C>A (p.Gly1642=) c.4896C>A (p.Gly1632=) c.4968C>A (p.Gly1656=) | |
| 3 | g.38551348C>A | CA352142702 | SCN5A | c.5021G>T (p.Gly1674Val) c.5024G>T (p.Gly1675Val) c.4970G>T (p.Gly1657Val) c.4862G>T (p.Gly1621Val) c.4925G>T (p.Gly1642Val) c.4895G>T (p.Gly1632Val) c.4967G>T (p.Gly1656Val) | |
| 3 | g.38551348C>G | CA352142704 | SCN5A | c.5021G>C (p.Gly1674Ala) c.5024G>C (p.Gly1675Ala) c.4970G>C (p.Gly1657Ala) c.4862G>C (p.Gly1621Ala) c.4925G>C (p.Gly1642Ala) c.4895G>C (p.Gly1632Ala) c.4967G>C (p.Gly1656Ala) | |
| 3 | g.38551348C>T | CA352142706 | SCN5A | c.5021G>A (p.Gly1674Asp) c.5024G>A (p.Gly1675Asp) c.4970G>A (p.Gly1657Asp) c.4862G>A (p.Gly1621Asp) c.4925G>A (p.Gly1642Asp) c.4895G>A (p.Gly1632Asp) c.4967G>A (p.Gly1656Asp) | |
| 3 | g.38551349C>A | CA352142708 | SCN5A | c.5020G>T (p.Gly1674Cys) c.5023G>T (p.Gly1675Cys) c.4969G>T (p.Gly1657Cys) c.4861G>T (p.Gly1621Cys) c.4924G>T (p.Gly1642Cys) c.4894G>T (p.Gly1632Cys) c.4966G>T (p.Gly1656Cys) | |
| 3 | g.38551349C>G | CA352142710 | SCN5A | c.5020G>C (p.Gly1674Arg) c.5023G>C (p.Gly1675Arg) c.4969G>C (p.Gly1657Arg) c.4861G>C (p.Gly1621Arg) c.4924G>C (p.Gly1642Arg) c.4894G>C (p.Gly1632Arg) c.4966G>C (p.Gly1656Arg) | |
| 3 | g.38551349C>T | CA352142712 | SCN5A | c.5020G>A (p.Gly1674Ser) c.5023G>A (p.Gly1675Ser) c.4969G>A (p.Gly1657Ser) c.4861G>A (p.Gly1621Ser) c.4924G>A (p.Gly1642Ser) c.4894G>A (p.Gly1632Ser) c.4966G>A (p.Gly1656Ser) | |
| 3 | g.38551350A= | CA1358557894 | SCN5A | c.5019T= (p.Phe1673=) c.5022T= (p.Phe1674=) c.4968T= (p.Phe1656=) c.4860T= (p.Phe1620=) c.4923T= (p.Phe1641=) c.4893T= (p.Phe1631=) c.4965T= (p.Phe1655=) | |
| 3 | g.38551350A>C | CA352142714 | SCN5A | c.5019T>G (p.Phe1673Leu) c.5022T>G (p.Phe1674Leu) c.4968T>G (p.Phe1656Leu) c.4860T>G (p.Phe1620Leu) c.4923T>G (p.Phe1641Leu) c.4893T>G (p.Phe1631Leu) c.4965T>G (p.Phe1655Leu) | |
| 3 | g.38551350A>G | CA433332109 | SCN5A | c.5019T>C (p.Phe1673=) c.5022T>C (p.Phe1674=) c.4968T>C (p.Phe1656=) c.4860T>C (p.Phe1620=) c.4923T>C (p.Phe1641=) c.4893T>C (p.Phe1631=) c.4965T>C (p.Phe1655=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38551350A>T | CA352142715 | SCN5A | c.5019T>A (p.Phe1673Leu) c.5022T>A (p.Phe1674Leu) c.4968T>A (p.Phe1656Leu) c.4860T>A (p.Phe1620Leu) c.4923T>A (p.Phe1641Leu) c.4893T>A (p.Phe1631Leu) c.4965T>A (p.Phe1655Leu) | |
| 3 | g.38551351A>C | CA352142718 | SCN5A | c.5018T>G (p.Phe1673Cys) c.5021T>G (p.Phe1674Cys) c.4967T>G (p.Phe1656Cys) c.4859T>G (p.Phe1620Cys) c.4922T>G (p.Phe1641Cys) c.4892T>G (p.Phe1631Cys) c.4964T>G (p.Phe1655Cys) | |
| 3 | g.38551351A>G | CA352142721 | SCN5A | c.5018T>C (p.Phe1673Ser) c.5021T>C (p.Phe1674Ser) c.4967T>C (p.Phe1656Ser) c.4859T>C (p.Phe1620Ser) c.4922T>C (p.Phe1641Ser) c.4892T>C (p.Phe1631Ser) c.4964T>C (p.Phe1655Ser) | gnomAD v4 |
| 3 | g.38551351A>T | CA352142720 | SCN5A | c.5018T>A (p.Phe1673Tyr) c.5021T>A (p.Phe1674Tyr) c.4967T>A (p.Phe1656Tyr) c.4859T>A (p.Phe1620Tyr) c.4922T>A (p.Phe1641Tyr) c.4892T>A (p.Phe1631Tyr) c.4964T>A (p.Phe1655Tyr) | |
| 3 | g.38551352A= | CA1358557896 | SCN5A | c.5017T= (p.Phe1673=) c.5020T= (p.Phe1674=) c.4966T= (p.Phe1656=) c.4858T= (p.Phe1620=) c.4921T= (p.Phe1641=) c.4891T= (p.Phe1631=) c.4963T= (p.Phe1655=) | |
| 3 | g.38551352A>C | CA352142724 | SCN5A | c.5017T>G (p.Phe1673Val) c.5020T>G (p.Phe1674Val) c.4966T>G (p.Phe1656Val) c.4858T>G (p.Phe1620Val) c.4921T>G (p.Phe1641Val) c.4891T>G (p.Phe1631Val) c.4963T>G (p.Phe1655Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38551352A>G | CA352142725 | SCN5A | c.5017T>C (p.Phe1673Leu) c.5020T>C (p.Phe1674Leu) c.4966T>C (p.Phe1656Leu) c.4858T>C (p.Phe1620Leu) c.4921T>C (p.Phe1641Leu) c.4891T>C (p.Phe1631Leu) c.4963T>C (p.Phe1655Leu) | |
| 3 | g.38551352A>T | CA352142727 | SCN5A | c.5017T>A (p.Phe1673Ile) c.5020T>A (p.Phe1674Ile) c.4966T>A (p.Phe1656Ile) c.4858T>A (p.Phe1620Ile) c.4921T>A (p.Phe1641Ile) c.4891T>A (p.Phe1631Ile) c.4963T>A (p.Phe1655Ile) | |
| 3 | g.38551353G>A | CA433332110 | SCN5A | c.5016C>T (p.Ile1672=) c.5019C>T (p.Ile1673=) c.4965C>T (p.Ile1655=) c.4857C>T (p.Ile1619=) c.4920C>T (p.Ile1640=) c.4890C>T (p.Ile1630=) c.4962C>T (p.Ile1654=) | |
| 3 | g.38551353G>C | CA352142729 | SCN5A | c.5016C>G (p.Ile1672Met) c.5019C>G (p.Ile1673Met) c.4965C>G (p.Ile1655Met) c.4857C>G (p.Ile1619Met) c.4920C>G (p.Ile1640Met) c.4890C>G (p.Ile1630Met) c.4962C>G (p.Ile1654Met) | |
| 3 | g.38551353G= | CA1358557900 | SCN5A | c.5016C= (p.Ile1672=) c.5019C= (p.Ile1673=) c.4965C= (p.Ile1655=) c.4857C= (p.Ile1619=) c.4920C= (p.Ile1640=) c.4890C= (p.Ile1630=) c.4962C= (p.Ile1654=) | |
| 3 | g.38551353G>T | CA433332113 | SCN5A | c.5016C>A (p.Ile1672=) c.5019C>A (p.Ile1673=) c.4965C>A (p.Ile1655=) c.4857C>A (p.Ile1619=) c.4920C>A (p.Ile1640=) c.4890C>A (p.Ile1630=) c.4962C>A (p.Ile1654=) | dbSNP gnomAD v4 |
| 3 | g.38551354A= | CA1358557902 | SCN5A | c.5015T= (p.Ile1672=) c.5018T= (p.Ile1673=) c.4964T= (p.Ile1655=) c.4856T= (p.Ile1619=) c.4919T= (p.Ile1640=) c.4889T= (p.Ile1630=) c.4961T= (p.Ile1654=) | |
| 3 | g.38551354A>C | CA352142731 | SCN5A | c.5015T>G (p.Ile1672Ser) c.5018T>G (p.Ile1673Ser) c.4964T>G (p.Ile1655Ser) c.4856T>G (p.Ile1619Ser) c.4919T>G (p.Ile1640Ser) c.4889T>G (p.Ile1630Ser) c.4961T>G (p.Ile1654Ser) | |
| 3 | g.38551354A>G | CA352142735 | SCN5A | c.5015T>C (p.Ile1672Thr) c.5018T>C (p.Ile1673Thr) c.4964T>C (p.Ile1655Thr) c.4856T>C (p.Ile1619Thr) c.4919T>C (p.Ile1640Thr) c.4889T>C (p.Ile1630Thr) c.4961T>C (p.Ile1654Thr) | dbSNP |
| 3 | g.38551354A>T | CA352142733 | SCN5A | c.5015T>A (p.Ile1672Asn) c.5018T>A (p.Ile1673Asn) c.4964T>A (p.Ile1655Asn) c.4856T>A (p.Ile1619Asn) c.4919T>A (p.Ile1640Asn) c.4889T>A (p.Ile1630Asn) c.4961T>A (p.Ile1654Asn) | ClinVar dbSNP |
| 3 | g.38551355T>A | CA352142737 | SCN5A | c.5014A>T (p.Ile1672Phe) c.5017A>T (p.Ile1673Phe) c.4963A>T (p.Ile1655Phe) c.4855A>T (p.Ile1619Phe) c.4918A>T (p.Ile1640Phe) c.4888A>T (p.Ile1630Phe) c.4960A>T (p.Ile1654Phe) | |
| 3 | g.38551355T>C | CA352142742 | SCN5A | c.5014A>G (p.Ile1672Val) c.5017A>G (p.Ile1673Val) c.4963A>G (p.Ile1655Val) c.4855A>G (p.Ile1619Val) c.4918A>G (p.Ile1640Val) c.4888A>G (p.Ile1630Val) c.4960A>G (p.Ile1654Val) | |
| 3 | g.38551355T>G | CA352142744 | SCN5A | c.5014A>C (p.Ile1672Leu) c.5017A>C (p.Ile1673Leu) c.4963A>C (p.Ile1655Leu) c.4855A>C (p.Ile1619Leu) c.4918A>C (p.Ile1640Leu) c.4888A>C (p.Ile1630Leu) c.4960A>C (p.Ile1654Leu) | gnomAD v4 |
| 3 | g.38551356G>A | CA433332118 | SCN5A | c.5013C>T (p.Ser1671=) c.5016C>T (p.Ser1672=) c.4962C>T (p.Ser1654=) c.4854C>T (p.Ser1618=) c.4917C>T (p.Ser1639=) c.4887C>T (p.Ser1629=) c.4959C>T (p.Ser1653=) | dbSNP gnomAD v2 |
| 3 | g.38551356G>C | CA433332119 | SCN5A | c.5013C>G (p.Ser1671=) c.5016C>G (p.Ser1672=) c.4962C>G (p.Ser1654=) c.4854C>G (p.Ser1618=) c.4917C>G (p.Ser1639=) c.4887C>G (p.Ser1629=) c.4959C>G (p.Ser1653=) | |
| 3 | g.38551356G= | CA1358557905 | SCN5A | c.5013C= (p.Ser1671=) c.5016C= (p.Ser1672=) c.4962C= (p.Ser1654=) c.4854C= (p.Ser1618=) c.4917C= (p.Ser1639=) c.4887C= (p.Ser1629=) c.4959C= (p.Ser1653=) | |
| 3 | g.38551356G>T | CA433332121 | SCN5A | c.5013C>A (p.Ser1671=) c.5016C>A (p.Ser1672=) c.4962C>A (p.Ser1654=) c.4854C>A (p.Ser1618=) c.4917C>A (p.Ser1639=) c.4887C>A (p.Ser1629=) c.4959C>A (p.Ser1653=) | |
| 3 | g.38551357G>A | CA352142746 | SCN5A | c.5012C>T (p.Ser1671Phe) c.5015C>T (p.Ser1672Phe) c.4961C>T (p.Ser1654Phe) c.4853C>T (p.Ser1618Phe) c.4916C>T (p.Ser1639Phe) c.4886C>T (p.Ser1629Phe) c.4958C>T (p.Ser1653Phe) | ClinVar dbSNP |
| 3 | g.38551357G>C | CA352142748 | SCN5A | c.5012C>G (p.Ser1671Cys) c.5015C>G (p.Ser1672Cys) c.4961C>G (p.Ser1654Cys) c.4853C>G (p.Ser1618Cys) c.4916C>G (p.Ser1639Cys) c.4886C>G (p.Ser1629Cys) c.4958C>G (p.Ser1653Cys) | |
| 3 | g.38551357G= | CA1358557908 | SCN5A | c.5012C= (p.Ser1671=) c.5015C= (p.Ser1672=) c.4961C= (p.Ser1654=) c.4853C= (p.Ser1618=) c.4916C= (p.Ser1639=) c.4886C= (p.Ser1629=) c.4958C= (p.Ser1653=) | |
| 3 | g.38551357G>T | CA018848 | SCN5A | c.5012C>A (p.Ser1671Tyr) c.5015C>A (p.Ser1672Tyr) c.4961C>A (p.Ser1654Tyr) c.4853C>A (p.Ser1618Tyr) c.4916C>A (p.Ser1639Tyr) c.4886C>A (p.Ser1629Tyr) c.4958C>A (p.Ser1653Tyr) | ClinVar dbSNP |
| 3 | g.38551358A>C | CA352142750 | SCN5A | c.5011T>G (p.Ser1671Ala) c.5014T>G (p.Ser1672Ala) c.4960T>G (p.Ser1654Ala) c.4852T>G (p.Ser1618Ala) c.4915T>G (p.Ser1639Ala) c.4885T>G (p.Ser1629Ala) c.4957T>G (p.Ser1653Ala) | |
| 3 | g.38551358A>G | CA352142752 | SCN5A | c.5011T>C (p.Ser1671Pro) c.5014T>C (p.Ser1672Pro) c.4960T>C (p.Ser1654Pro) c.4852T>C (p.Ser1618Pro) c.4915T>C (p.Ser1639Pro) c.4885T>C (p.Ser1629Pro) c.4957T>C (p.Ser1653Pro) | |
| 3 | g.38551358A>T | CA352142754 | SCN5A | c.5011T>A (p.Ser1671Thr) c.5014T>A (p.Ser1672Thr) c.4960T>A (p.Ser1654Thr) c.4852T>A (p.Ser1618Thr) c.4915T>A (p.Ser1639Thr) c.4885T>A (p.Ser1629Thr) c.4957T>A (p.Ser1653Thr) | |
| 3 | g.38551359G>A | CA72938216 | SCN5A | c.5010C>T (p.Tyr1670=) c.5013C>T (p.Tyr1671=) c.4959C>T (p.Tyr1653=) c.4851C>T (p.Tyr1617=) c.4914C>T (p.Tyr1638=) c.4884C>T (p.Tyr1628=) c.4956C>T (p.Tyr1652=) | dbSNP |
| 3 | g.38551359G>C | CA352142756 | SCN5A | c.5010C>G (p.Tyr1670Ter) c.5013C>G (p.Tyr1671Ter) c.4959C>G (p.Tyr1653Ter) c.4851C>G (p.Tyr1617Ter) c.4914C>G (p.Tyr1638Ter) c.4884C>G (p.Tyr1628Ter) c.4956C>G (p.Tyr1652Ter) | |
| 3 | g.38551359G= | CA1358557914 | SCN5A | c.5010C= (p.Tyr1670=) c.5013C= (p.Tyr1671=) c.4959C= (p.Tyr1653=) c.4851C= (p.Tyr1617=) c.4914C= (p.Tyr1638=) c.4884C= (p.Tyr1628=) c.4956C= (p.Tyr1652=) | |
| 3 | g.38551359G>T | CA352142758 | SCN5A | c.5010C>A (p.Tyr1670Ter) c.5013C>A (p.Tyr1671Ter) c.4959C>A (p.Tyr1653Ter) c.4851C>A (p.Tyr1617Ter) c.4914C>A (p.Tyr1638Ter) c.4884C>A (p.Tyr1628Ter) c.4956C>A (p.Tyr1652Ter) | |
| 3 | g.38551360T>A | CA352142760 | SCN5A | c.5009A>T (p.Tyr1670Phe) c.5012A>T (p.Tyr1671Phe) c.4958A>T (p.Tyr1653Phe) c.4850A>T (p.Tyr1617Phe) c.4913A>T (p.Tyr1638Phe) c.4883A>T (p.Tyr1628Phe) c.4955A>T (p.Tyr1652Phe) | |
| 3 | g.38551360T>C | CA352142763 | SCN5A | c.5009A>G (p.Tyr1670Cys) c.5012A>G (p.Tyr1671Cys) c.4958A>G (p.Tyr1653Cys) c.4850A>G (p.Tyr1617Cys) c.4913A>G (p.Tyr1638Cys) c.4883A>G (p.Tyr1628Cys) c.4955A>G (p.Tyr1652Cys) | |
| 3 | g.38551360T>G | CA352142761 | SCN5A | c.5009A>C (p.Tyr1670Ser) c.5012A>C (p.Tyr1671Ser) c.4958A>C (p.Tyr1653Ser) c.4850A>C (p.Tyr1617Ser) c.4913A>C (p.Tyr1638Ser) c.4883A>C (p.Tyr1628Ser) c.4955A>C (p.Tyr1652Ser) | |
| 3 | g.38551361A>C | CA352142765 | SCN5A | c.5008T>G (p.Tyr1670Asp) c.5011T>G (p.Tyr1671Asp) c.4957T>G (p.Tyr1653Asp) c.4849T>G (p.Tyr1617Asp) c.4912T>G (p.Tyr1638Asp) c.4882T>G (p.Tyr1628Asp) c.4954T>G (p.Tyr1652Asp) | |
| 3 | g.38551361A>G | CA352142767 | SCN5A | c.5008T>C (p.Tyr1670His) c.5011T>C (p.Tyr1671His) c.4957T>C (p.Tyr1653His) c.4849T>C (p.Tyr1617His) c.4912T>C (p.Tyr1638His) c.4882T>C (p.Tyr1628His) c.4954T>C (p.Tyr1652His) | |
| 3 | g.38551361A>T | CA352142768 | SCN5A | c.5008T>A (p.Tyr1670Asn) c.5011T>A (p.Tyr1671Asn) c.4957T>A (p.Tyr1653Asn) c.4849T>A (p.Tyr1617Asn) c.4912T>A (p.Tyr1638Asn) c.4882T>A (p.Tyr1628Asn) c.4954T>A (p.Tyr1652Asn) | |
| 3 | g.38551362G>A | CA433332129 | SCN5A | c.5007C>T (p.Ile1669=) c.5010C>T (p.Ile1670=) c.4956C>T (p.Ile1652=) c.4848C>T (p.Ile1616=) c.4911C>T (p.Ile1637=) c.4881C>T (p.Ile1627=) c.4953C>T (p.Ile1651=) | gnomAD v4 |
| 3 | g.38551362G>C | CA352142771 | SCN5A | c.5007C>G (p.Ile1669Met) c.5010C>G (p.Ile1670Met) c.4956C>G (p.Ile1652Met) c.4848C>G (p.Ile1616Met) c.4911C>G (p.Ile1637Met) c.4881C>G (p.Ile1627Met) c.4953C>G (p.Ile1651Met) | |
| 3 | g.38551362G>T | CA433332130 | SCN5A | c.5007C>A (p.Ile1669=) c.5010C>A (p.Ile1670=) c.4956C>A (p.Ile1652=) c.4848C>A (p.Ile1616=) c.4911C>A (p.Ile1637=) c.4881C>A (p.Ile1627=) c.4953C>A (p.Ile1651=) | |
| 3 | g.38551363A= | CA1358557916 | SCN5A | c.5006T= (p.Ile1669=) c.5009T= (p.Ile1670=) c.4955T= (p.Ile1652=) c.4847T= (p.Ile1616=) c.4910T= (p.Ile1637=) c.4880T= (p.Ile1627=) c.4952T= (p.Ile1651=) | |
| 3 | g.38551363A>C | CA352142773 | SCN5A | c.5006T>G (p.Ile1669Ser) c.5009T>G (p.Ile1670Ser) c.4955T>G (p.Ile1652Ser) c.4847T>G (p.Ile1616Ser) c.4910T>G (p.Ile1637Ser) c.4880T>G (p.Ile1627Ser) c.4952T>G (p.Ile1651Ser) | |
| 3 | g.38551363A>G | CA018843 | SCN5A | c.5006T>C (p.Ile1669Thr) c.5009T>C (p.Ile1670Thr) c.4955T>C (p.Ile1652Thr) c.4847T>C (p.Ile1616Thr) c.4910T>C (p.Ile1637Thr) c.4880T>C (p.Ile1627Thr) c.4952T>C (p.Ile1651Thr) | ClinVar dbSNP |
| 3 | g.38551363A>T | CA352142776 | SCN5A | c.5006T>A (p.Ile1669Asn) c.5009T>A (p.Ile1670Asn) c.4955T>A (p.Ile1652Asn) c.4847T>A (p.Ile1616Asn) c.4910T>A (p.Ile1637Asn) c.4880T>A (p.Ile1627Asn) c.4952T>A (p.Ile1651Asn) | |
| 3 | g.38551364T>A | CA352142777 | SCN5A | c.5005A>T (p.Ile1669Phe) c.5008A>T (p.Ile1670Phe) c.4954A>T (p.Ile1652Phe) c.4846A>T (p.Ile1616Phe) c.4909A>T (p.Ile1637Phe) c.4879A>T (p.Ile1627Phe) c.4951A>T (p.Ile1651Phe) | |
| 3 | g.38551364T>C | CA352142778 | SCN5A | c.5005A>G (p.Ile1669Val) c.5008A>G (p.Ile1670Val) c.4954A>G (p.Ile1652Val) c.4846A>G (p.Ile1616Val) c.4909A>G (p.Ile1637Val) c.4879A>G (p.Ile1627Val) c.4951A>G (p.Ile1651Val) | gnomAD v4 |
| 3 | g.38551364T>G | CA352142780 | SCN5A | c.5005A>C (p.Ile1669Leu) c.5008A>C (p.Ile1670Leu) c.4954A>C (p.Ile1652Leu) c.4846A>C (p.Ile1616Leu) c.4909A>C (p.Ile1637Leu) c.4879A>C (p.Ile1627Leu) c.4951A>C (p.Ile1651Leu) | |
| 3 | g.38551365G>A | CA433332134 | SCN5A | c.5004C>T (p.Phe1668=) c.5007C>T (p.Phe1669=) c.4953C>T (p.Phe1651=) c.4845C>T (p.Phe1615=) c.4908C>T (p.Phe1636=) c.4878C>T (p.Phe1626=) c.4950C>T (p.Phe1650=) | ClinVar |
| 3 | g.38551365G>C | CA352142782 | SCN5A | c.5004C>G (p.Phe1668Leu) c.5007C>G (p.Phe1669Leu) c.4953C>G (p.Phe1651Leu) c.4845C>G (p.Phe1615Leu) c.4908C>G (p.Phe1636Leu) c.4878C>G (p.Phe1626Leu) c.4950C>G (p.Phe1650Leu) | |
| 3 | g.38551365G= | CA1358557920 | SCN5A | c.5004C= (p.Phe1668=) c.5007C= (p.Phe1669=) c.4953C= (p.Phe1651=) c.4845C= (p.Phe1615=) c.4908C= (p.Phe1636=) c.4878C= (p.Phe1626=) c.4950C= (p.Phe1650=) | |
| 3 | g.38551365G>T | CA72938220 | SCN5A | c.5004C>A (p.Phe1668Leu) c.5007C>A (p.Phe1669Leu) c.4953C>A (p.Phe1651Leu) c.4845C>A (p.Phe1615Leu) c.4908C>A (p.Phe1636Leu) c.4878C>A (p.Phe1626Leu) c.4950C>A (p.Phe1650Leu) | ClinVar dbSNP |
| 3 | g.38551366A>C | CA352142789 | SCN5A | c.5003T>G (p.Phe1668Cys) c.5006T>G (p.Phe1669Cys) c.4952T>G (p.Phe1651Cys) c.4844T>G (p.Phe1615Cys) c.4907T>G (p.Phe1636Cys) c.4877T>G (p.Phe1626Cys) c.4949T>G (p.Phe1650Cys) | |
| 3 | g.38551366A>G | CA352142787 | SCN5A | c.5003T>C (p.Phe1668Ser) c.5006T>C (p.Phe1669Ser) c.4952T>C (p.Phe1651Ser) c.4844T>C (p.Phe1615Ser) c.4907T>C (p.Phe1636Ser) c.4877T>C (p.Phe1626Ser) c.4949T>C (p.Phe1650Ser) | |
| 3 | g.38551366A>T | CA352142785 | SCN5A | c.5003T>A (p.Phe1668Tyr) c.5006T>A (p.Phe1669Tyr) c.4952T>A (p.Phe1651Tyr) c.4844T>A (p.Phe1615Tyr) c.4907T>A (p.Phe1636Tyr) c.4877T>A (p.Phe1626Tyr) c.4949T>A (p.Phe1650Tyr) | |
| 3 | g.38551367A>C | CA352142791 | SCN5A | c.5002T>G (p.Phe1668Val) c.5005T>G (p.Phe1669Val) c.4951T>G (p.Phe1651Val) c.4843T>G (p.Phe1615Val) c.4906T>G (p.Phe1636Val) c.4876T>G (p.Phe1626Val) c.4948T>G (p.Phe1650Val) | |
| 3 | g.38551367A>G | CA352142793 | SCN5A | c.5002T>C (p.Phe1668Leu) c.5005T>C (p.Phe1669Leu) c.4951T>C (p.Phe1651Leu) c.4843T>C (p.Phe1615Leu) c.4906T>C (p.Phe1636Leu) c.4876T>C (p.Phe1626Leu) c.4948T>C (p.Phe1650Leu) | |
| 3 | g.38551367A>T | CA352142795 | SCN5A | c.5002T>A (p.Phe1668Ile) c.5005T>A (p.Phe1669Ile) c.4951T>A (p.Phe1651Ile) c.4843T>A (p.Phe1615Ile) c.4906T>A (p.Phe1636Ile) c.4876T>A (p.Phe1626Ile) c.4948T>A (p.Phe1650Ile) | |
| 3 | g.38551368C>A | CA352142797 | SCN5A | c.5001G>T (p.Met1667Ile) c.5004G>T (p.Met1668Ile) c.4950G>T (p.Met1650Ile) c.4842G>T (p.Met1614Ile) c.4905G>T (p.Met1635Ile) c.4875G>T (p.Met1625Ile) c.4947G>T (p.Met1649Ile) | |
| 3 | g.38551368C>G | CA352142799 | SCN5A | c.5001G>C (p.Met1667Ile) c.5004G>C (p.Met1668Ile) c.4950G>C (p.Met1650Ile) c.4842G>C (p.Met1614Ile) c.4905G>C (p.Met1635Ile) c.4875G>C (p.Met1625Ile) c.4947G>C (p.Met1649Ile) | |
| 3 | g.38551368C>T | CA352142801 | SCN5A | c.5001G>A (p.Met1667Ile) c.5004G>A (p.Met1668Ile) c.4950G>A (p.Met1650Ile) c.4842G>A (p.Met1614Ile) c.4905G>A (p.Met1635Ile) c.4875G>A (p.Met1625Ile) c.4947G>A (p.Met1649Ile) | |
| 3 | g.38551369A= | CA1358557925 | SCN5A | c.5000T= (p.Met1667=) c.5003T= (p.Met1668=) c.4949T= (p.Met1650=) c.4841T= (p.Met1614=) c.4904T= (p.Met1635=) c.4874T= (p.Met1625=) c.4946T= (p.Met1649=) | |
| 3 | g.38551369A>C | CA352142802 | SCN5A | c.5000T>G (p.Met1667Arg) c.5003T>G (p.Met1668Arg) c.4949T>G (p.Met1650Arg) c.4841T>G (p.Met1614Arg) c.4904T>G (p.Met1635Arg) c.4874T>G (p.Met1625Arg) c.4946T>G (p.Met1649Arg) | |
| 3 | g.38551369A>G | CA064059 | SCN5A | c.5000T>C (p.Met1667Thr) c.5003T>C (p.Met1668Thr) c.4949T>C (p.Met1650Thr) c.4841T>C (p.Met1614Thr) c.4904T>C (p.Met1635Thr) c.4874T>C (p.Met1625Thr) c.4946T>C (p.Met1649Thr) | ClinVar dbSNP ExAC |
| 3 | g.38551369A>T | CA352142803 | SCN5A | c.5000T>A (p.Met1667Lys) c.5003T>A (p.Met1668Lys) c.4949T>A (p.Met1650Lys) c.4841T>A (p.Met1614Lys) c.4904T>A (p.Met1635Lys) c.4874T>A (p.Met1625Lys) c.4946T>A (p.Met1649Lys) | |
| 3 | g.38551370T>A | CA352142804 | SCN5A | c.4999A>T (p.Met1667Leu) c.5002A>T (p.Met1668Leu) c.4948A>T (p.Met1650Leu) c.4840A>T (p.Met1614Leu) c.4903A>T (p.Met1635Leu) c.4873A>T (p.Met1625Leu) c.4945A>T (p.Met1649Leu) | gnomAD v4 |
| 3 | g.38551370T>C | CA352142805 | SCN5A | c.4999A>G (p.Met1667Val) c.5002A>G (p.Met1668Val) c.4948A>G (p.Met1650Val) c.4840A>G (p.Met1614Val) c.4903A>G (p.Met1635Val) c.4873A>G (p.Met1625Val) c.4945A>G (p.Met1649Val) | dbSNP gnomAD v4 |
| 3 | g.38551370T>G | CA352142806 | SCN5A | c.4999A>C (p.Met1667Leu) c.5002A>C (p.Met1668Leu) c.4948A>C (p.Met1650Leu) c.4840A>C (p.Met1614Leu) c.4903A>C (p.Met1635Leu) c.4873A>C (p.Met1625Leu) c.4945A>C (p.Met1649Leu) | |
| 3 | g.38551370T= | CA1358557930 | SCN5A | c.4999A= (p.Met1667=) c.5002A= (p.Met1668=) c.4948A= (p.Met1650=) c.4840A= (p.Met1614=) c.4903A= (p.Met1635=) c.4873A= (p.Met1625=) c.4945A= (p.Met1649=) | |
| 3 | g.38551371G>A | CA433332140 | SCN5A | c.4998C>T (p.Val1666=) c.5001C>T (p.Val1667=) c.4947C>T (p.Val1649=) c.4839C>T (p.Val1613=) c.4902C>T (p.Val1634=) c.4872C>T (p.Val1624=) c.4944C>T (p.Val1648=) | |
| 3 | g.38551371G>C | CA433332142 | SCN5A | c.4998C>G (p.Val1666=) c.5001C>G (p.Val1667=) c.4947C>G (p.Val1649=) c.4839C>G (p.Val1613=) c.4902C>G (p.Val1634=) c.4872C>G (p.Val1624=) c.4944C>G (p.Val1648=) | |
| 3 | g.38551371G>T | CA433332141 | SCN5A | c.4998C>A (p.Val1666=) c.5001C>A (p.Val1667=) c.4947C>A (p.Val1649=) c.4839C>A (p.Val1613=) c.4902C>A (p.Val1634=) c.4872C>A (p.Val1624=) c.4944C>A (p.Val1648=) | |
| 3 | g.38551372A= | CA1358557932 | SCN5A | c.4997T= (p.Val1666=) c.5000T= (p.Val1667=) c.4946T= (p.Val1649=) c.4838T= (p.Val1613=) c.4901T= (p.Val1634=) c.4871T= (p.Val1624=) c.4943T= (p.Val1648=) | |
| 3 | g.38551372A>C | CA352142808 | SCN5A | c.4997T>G (p.Val1666Gly) c.5000T>G (p.Val1667Gly) c.4946T>G (p.Val1649Gly) c.4838T>G (p.Val1613Gly) c.4901T>G (p.Val1634Gly) c.4871T>G (p.Val1624Gly) c.4943T>G (p.Val1648Gly) | |
| 3 | g.38551372A>G | CA72938222 | SCN5A | c.4997T>C (p.Val1666Ala) c.5000T>C (p.Val1667Ala) c.4946T>C (p.Val1649Ala) c.4838T>C (p.Val1613Ala) c.4901T>C (p.Val1634Ala) c.4871T>C (p.Val1624Ala) c.4943T>C (p.Val1648Ala) | dbSNP gnomAD v4 |
| 3 | g.38551372A>T | CA352142807 | SCN5A | c.4997T>A (p.Val1666Asp) c.5000T>A (p.Val1667Asp) c.4946T>A (p.Val1649Asp) c.4838T>A (p.Val1613Asp) c.4901T>A (p.Val1634Asp) c.4871T>A (p.Val1624Asp) c.4943T>A (p.Val1648Asp) | |
| 3 | g.38551373C>A | CA352142809 | SCN5A | c.4996G>T (p.Val1666Phe) c.4999G>T (p.Val1667Phe) c.4945G>T (p.Val1649Phe) c.4837G>T (p.Val1613Phe) c.4900G>T (p.Val1634Phe) c.4870G>T (p.Val1624Phe) c.4942G>T (p.Val1648Phe) | |
| 3 | g.38551373C= | CA1358557938 | SCN5A | c.4996G= (p.Val1666=) c.4999G= (p.Val1667=) c.4945G= (p.Val1649=) c.4837G= (p.Val1613=) c.4900G= (p.Val1634=) c.4870G= (p.Val1624=) c.4942G= (p.Val1648=) | |
| 3 | g.38551373C>G | CA018830 | SCN5A | c.4996G>C (p.Val1666Leu) c.4999G>C (p.Val1667Leu) c.4945G>C (p.Val1649Leu) c.4837G>C (p.Val1613Leu) c.4900G>C (p.Val1634Leu) c.4870G>C (p.Val1624Leu) c.4942G>C (p.Val1648Leu) | ClinVar dbSNP |
| 3 | g.38551373C>T | CA018825 | SCN5A | c.4996G>A (p.Val1666Ile) c.4999G>A (p.Val1667Ile) c.4945G>A (p.Val1649Ile) c.4837G>A (p.Val1613Ile) c.4900G>A (p.Val1634Ile) c.4870G>A (p.Val1624Ile) c.4942G>A (p.Val1648Ile) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38551374G>A | CA064050 | SCN5A | c.4995C>T (p.Leu1665=) c.4998C>T (p.Leu1666=) c.4944C>T (p.Leu1648=) c.4836C>T (p.Leu1612=) c.4899C>T (p.Leu1633=) c.4869C>T (p.Leu1623=) c.4941C>T (p.Leu1647=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.38551374G>C | CA433332147 | SCN5A | c.4995C>G (p.Leu1665=) c.4998C>G (p.Leu1666=) c.4944C>G (p.Leu1648=) c.4836C>G (p.Leu1612=) c.4899C>G (p.Leu1633=) c.4869C>G (p.Leu1623=) c.4941C>G (p.Leu1647=) | |
| 3 | g.38551374G= | CA1358557945 | SCN5A | c.4995C= (p.Leu1665=) c.4998C= (p.Leu1666=) c.4944C= (p.Leu1648=) c.4836C= (p.Leu1612=) c.4899C= (p.Leu1633=) c.4869C= (p.Leu1623=) c.4941C= (p.Leu1647=) | |
| 3 | g.38551374G>T | CA433332148 | SCN5A | c.4995C>A (p.Leu1665=) c.4998C>A (p.Leu1666=) c.4944C>A (p.Leu1648=) c.4836C>A (p.Leu1612=) c.4899C>A (p.Leu1633=) c.4869C>A (p.Leu1623=) c.4941C>A (p.Leu1647=) | |
| 3 | g.38551375A>C | CA352142812 | SCN5A | c.4994T>G (p.Leu1665Arg) c.4997T>G (p.Leu1666Arg) c.4943T>G (p.Leu1648Arg) c.4835T>G (p.Leu1612Arg) c.4898T>G (p.Leu1633Arg) c.4868T>G (p.Leu1623Arg) c.4940T>G (p.Leu1647Arg) | |
| 3 | g.38551375A>G | CA352142810 | SCN5A | c.4994T>C (p.Leu1665Pro) c.4997T>C (p.Leu1666Pro) c.4943T>C (p.Leu1648Pro) c.4835T>C (p.Leu1612Pro) c.4898T>C (p.Leu1633Pro) c.4868T>C (p.Leu1623Pro) c.4940T>C (p.Leu1647Pro) | |
| 3 | g.38551375A>T | CA352142811 | SCN5A | c.4994T>A (p.Leu1665His) c.4997T>A (p.Leu1666His) c.4943T>A (p.Leu1648His) c.4835T>A (p.Leu1612His) c.4898T>A (p.Leu1633His) c.4868T>A (p.Leu1623His) c.4940T>A (p.Leu1647His) | |
| 3 | g.38551376G>A | CA352142813 | SCN5A | c.4993C>T (p.Leu1665Phe) c.4996C>T (p.Leu1666Phe) c.4942C>T (p.Leu1648Phe) c.4834C>T (p.Leu1612Phe) c.4897C>T (p.Leu1633Phe) c.4867C>T (p.Leu1623Phe) c.4939C>T (p.Leu1647Phe) | ClinVar gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.38551376G>C | CA352142814 | SCN5A | c.4993C>G (p.Leu1665Val) c.4996C>G (p.Leu1666Val) c.4942C>G (p.Leu1648Val) c.4834C>G (p.Leu1612Val) c.4897C>G (p.Leu1633Val) c.4867C>G (p.Leu1623Val) c.4939C>G (p.Leu1647Val) | |
| 3 | g.38551376G>T | CA352142816 | SCN5A | c.4993C>A (p.Leu1665Ile) c.4996C>A (p.Leu1666Ile) c.4942C>A (p.Leu1648Ile) c.4834C>A (p.Leu1612Ile) c.4897C>A (p.Leu1633Ile) c.4867C>A (p.Leu1623Ile) c.4939C>A (p.Leu1647Ile) | |
| 3 | g.38551377G>A | CA433332152 | SCN5A | c.4992C>T (p.Phe1664=) c.4995C>T (p.Phe1665=) c.4941C>T (p.Phe1647=) c.4833C>T (p.Phe1611=) c.4896C>T (p.Phe1632=) c.4866C>T (p.Phe1622=) c.4938C>T (p.Phe1646=) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38551377G>C | CA352142817 | SCN5A | c.4992C>G (p.Phe1664Leu) c.4995C>G (p.Phe1665Leu) c.4941C>G (p.Phe1647Leu) c.4833C>G (p.Phe1611Leu) c.4896C>G (p.Phe1632Leu) c.4866C>G (p.Phe1622Leu) c.4938C>G (p.Phe1646Leu) | |
| 3 | g.38551377G>T | CA352142819 | SCN5A | c.4992C>A (p.Phe1664Leu) c.4995C>A (p.Phe1665Leu) c.4941C>A (p.Phe1647Leu) c.4833C>A (p.Phe1611Leu) c.4896C>A (p.Phe1632Leu) c.4866C>A (p.Phe1622Leu) c.4938C>A (p.Phe1646Leu) | |
| 3 | g.38551378A>C | CA352142821 | SCN5A | c.4991T>G (p.Phe1664Cys) c.4994T>G (p.Phe1665Cys) c.4940T>G (p.Phe1647Cys) c.4832T>G (p.Phe1611Cys) c.4895T>G (p.Phe1632Cys) c.4865T>G (p.Phe1622Cys) c.4937T>G (p.Phe1646Cys) | |
| 3 | g.38551378A>G | CA352142822 | SCN5A | c.4991T>C (p.Phe1664Ser) c.4994T>C (p.Phe1665Ser) c.4940T>C (p.Phe1647Ser) c.4832T>C (p.Phe1611Ser) c.4895T>C (p.Phe1632Ser) c.4865T>C (p.Phe1622Ser) c.4937T>C (p.Phe1646Ser) | gnomAD v4 |
| 3 | g.38551378A>T | CA352142823 | SCN5A | c.4991T>A (p.Phe1664Tyr) c.4994T>A (p.Phe1665Tyr) c.4940T>A (p.Phe1647Tyr) c.4832T>A (p.Phe1611Tyr) c.4895T>A (p.Phe1632Tyr) c.4865T>A (p.Phe1622Tyr) c.4937T>A (p.Phe1646Tyr) | |
| 3 | g.38551379A>C | CA352142824 | SCN5A | c.4990T>G (p.Phe1664Val) c.4993T>G (p.Phe1665Val) c.4939T>G (p.Phe1647Val) c.4831T>G (p.Phe1611Val) c.4894T>G (p.Phe1632Val) c.4864T>G (p.Phe1622Val) c.4936T>G (p.Phe1646Val) | |
| 3 | g.38551379A>G | CA352142825 | SCN5A | c.4990T>C (p.Phe1664Leu) c.4993T>C (p.Phe1665Leu) c.4939T>C (p.Phe1647Leu) c.4831T>C (p.Phe1611Leu) c.4894T>C (p.Phe1632Leu) c.4864T>C (p.Phe1622Leu) c.4936T>C (p.Phe1646Leu) | |
| 3 | g.38551379A>T | CA352142826 | SCN5A | c.4990T>A (p.Phe1664Ile) c.4993T>A (p.Phe1665Ile) c.4939T>A (p.Phe1647Ile) c.4831T>A (p.Phe1611Ile) c.4894T>A (p.Phe1632Ile) c.4864T>A (p.Phe1622Ile) c.4936T>A (p.Phe1646Ile) | |
| 3 | g.38551380G>A | CA433332157 | SCN5A | c.4989C>T (p.Leu1663=) c.4992C>T (p.Leu1664=) c.4938C>T (p.Leu1646=) c.4830C>T (p.Leu1610=) c.4893C>T (p.Leu1631=) c.4863C>T (p.Leu1621=) c.4935C>T (p.Leu1645=) | |
| 3 | g.38551380G>C | CA433332158 | SCN5A | c.4989C>G (p.Leu1663=) c.4992C>G (p.Leu1664=) c.4938C>G (p.Leu1646=) c.4830C>G (p.Leu1610=) c.4893C>G (p.Leu1631=) c.4863C>G (p.Leu1621=) c.4935C>G (p.Leu1645=) | |
| 3 | g.38551380G>T | CA433332160 | SCN5A | c.4989C>A (p.Leu1663=) c.4992C>A (p.Leu1664=) c.4938C>A (p.Leu1646=) c.4830C>A (p.Leu1610=) c.4893C>A (p.Leu1631=) c.4863C>A (p.Leu1621=) c.4935C>A (p.Leu1645=) | ClinVar dbSNP |
| 3 | g.38551381A>C | CA352142829 | SCN5A | c.4988T>G (p.Leu1663Arg) c.4991T>G (p.Leu1664Arg) c.4937T>G (p.Leu1646Arg) c.4829T>G (p.Leu1610Arg) c.4892T>G (p.Leu1631Arg) c.4862T>G (p.Leu1621Arg) c.4934T>G (p.Leu1645Arg) | |
| 3 | g.38551381A>G | CA352142828 | SCN5A | c.4988T>C (p.Leu1663Pro) c.4991T>C (p.Leu1664Pro) c.4937T>C (p.Leu1646Pro) c.4829T>C (p.Leu1610Pro) c.4892T>C (p.Leu1631Pro) c.4862T>C (p.Leu1621Pro) c.4934T>C (p.Leu1645Pro) | |
| 3 | g.38551381A>T | CA352142827 | SCN5A | c.4988T>A (p.Leu1663His) c.4991T>A (p.Leu1664His) c.4937T>A (p.Leu1646His) c.4829T>A (p.Leu1610His) c.4892T>A (p.Leu1631His) c.4862T>A (p.Leu1621His) c.4934T>A (p.Leu1645His) | |
| 3 | g.38551382G>A | CA352142830 | SCN5A | c.4987C>T (p.Leu1663Phe) c.4990C>T (p.Leu1664Phe) c.4936C>T (p.Leu1646Phe) c.4828C>T (p.Leu1610Phe) c.4891C>T (p.Leu1631Phe) c.4861C>T (p.Leu1621Phe) c.4933C>T (p.Leu1645Phe) | |
| 3 | g.38551382G>C | CA352142831 | SCN5A | c.4987C>G (p.Leu1663Val) c.4990C>G (p.Leu1664Val) c.4936C>G (p.Leu1646Val) c.4828C>G (p.Leu1610Val) c.4891C>G (p.Leu1631Val) c.4861C>G (p.Leu1621Val) c.4933C>G (p.Leu1645Val) | |
| 3 | g.38551382G>T | CA352142832 | SCN5A | c.4987C>A (p.Leu1663Ile) c.4990C>A (p.Leu1664Ile) c.4936C>A (p.Leu1646Ile) c.4828C>A (p.Leu1610Ile) c.4891C>A (p.Leu1631Ile) c.4861C>A (p.Leu1621Ile) c.4933C>A (p.Leu1645Ile) | |
| 3 | g.38551383C>A | CA433332168 | SCN5A | c.4986G>T (p.Leu1662=) c.4989G>T (p.Leu1663=) c.4935G>T (p.Leu1645=) c.4827G>T (p.Leu1609=) c.4890G>T (p.Leu1630=) c.4860G>T (p.Leu1620=) c.4932G>T (p.Leu1644=) | |
| 3 | g.38551383C>G | CA433332170 | SCN5A | c.4986G>C (p.Leu1662=) c.4989G>C (p.Leu1663=) c.4935G>C (p.Leu1645=) c.4827G>C (p.Leu1609=) c.4890G>C (p.Leu1630=) c.4860G>C (p.Leu1620=) c.4932G>C (p.Leu1644=) | |
| 3 | g.38551383C>T | CA433332171 | SCN5A | c.4986G>A (p.Leu1662=) c.4989G>A (p.Leu1663=) c.4935G>A (p.Leu1645=) c.4827G>A (p.Leu1609=) c.4890G>A (p.Leu1630=) c.4860G>A (p.Leu1620=) c.4932G>A (p.Leu1644=) | |
| 3 | g.38551384A>C | CA352142833 | SCN5A | c.4985T>G (p.Leu1662Arg) c.4988T>G (p.Leu1663Arg) c.4934T>G (p.Leu1645Arg) c.4826T>G (p.Leu1609Arg) c.4889T>G (p.Leu1630Arg) c.4859T>G (p.Leu1620Arg) c.4931T>G (p.Leu1644Arg) | |
| 3 | g.38551384A>G | CA352142834 | SCN5A | c.4985T>C (p.Leu1662Pro) c.4988T>C (p.Leu1663Pro) c.4934T>C (p.Leu1645Pro) c.4826T>C (p.Leu1609Pro) c.4889T>C (p.Leu1630Pro) c.4859T>C (p.Leu1620Pro) c.4931T>C (p.Leu1644Pro) | |
| 3 | g.38551384A>T | CA352142835 | SCN5A | c.4985T>A (p.Leu1662Gln) c.4988T>A (p.Leu1663Gln) c.4934T>A (p.Leu1645Gln) c.4826T>A (p.Leu1609Gln) c.4889T>A (p.Leu1630Gln) c.4859T>A (p.Leu1620Gln) c.4931T>A (p.Leu1644Gln) | |
| 3 | g.38551385G>A | CA433332174 | SCN5A | c.4984C>T (p.Leu1662=) c.4987C>T (p.Leu1663=) c.4933C>T (p.Leu1645=) c.4825C>T (p.Leu1609=) c.4888C>T (p.Leu1630=) c.4858C>T (p.Leu1620=) c.4930C>T (p.Leu1644=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38551385G>C | CA352142836 | SCN5A | c.4984C>G (p.Leu1662Val) c.4987C>G (p.Leu1663Val) c.4933C>G (p.Leu1645Val) c.4825C>G (p.Leu1609Val) c.4888C>G (p.Leu1630Val) c.4858C>G (p.Leu1620Val) c.4930C>G (p.Leu1644Val) | |
| 3 | g.38551385G= | CA1358557949 | SCN5A | c.4984C= (p.Leu1662=) c.4987C= (p.Leu1663=) c.4933C= (p.Leu1645=) c.4825C= (p.Leu1609=) c.4888C= (p.Leu1630=) c.4858C= (p.Leu1620=) c.4930C= (p.Leu1644=) | |
| 3 | g.38551385G>T | CA352142837 | SCN5A | c.4984C>A (p.Leu1662Met) c.4987C>A (p.Leu1663Met) c.4933C>A (p.Leu1645Met) c.4825C>A (p.Leu1609Met) c.4888C>A (p.Leu1630Met) c.4858C>A (p.Leu1620Met) c.4930C>A (p.Leu1644Met) | |
| 3 | g.38551386C>A | CA433332178 | SCN5A | c.4983G>T (p.Leu1661=) c.4986G>T (p.Leu1662=) c.4932G>T (p.Leu1644=) c.4824G>T (p.Leu1608=) c.4887G>T (p.Leu1629=) c.4857G>T (p.Leu1619=) c.4929G>T (p.Leu1643=) | |
| 3 | g.38551386C>G | CA433332181 | SCN5A | c.4983G>C (p.Leu1661=) c.4986G>C (p.Leu1662=) c.4932G>C (p.Leu1644=) c.4824G>C (p.Leu1608=) c.4887G>C (p.Leu1629=) c.4857G>C (p.Leu1619=) c.4929G>C (p.Leu1643=) | |
| 3 | g.38551386C>T | CA433332179 | SCN5A | c.4983G>A (p.Leu1661=) c.4986G>A (p.Leu1662=) c.4932G>A (p.Leu1644=) c.4824G>A (p.Leu1608=) c.4887G>A (p.Leu1629=) c.4857G>A (p.Leu1619=) c.4929G>A (p.Leu1643=) | gnomAD v4 |
| 3 | g.38551387A>C | CA352142838 | SCN5A | c.4982T>G (p.Leu1661Arg) c.4985T>G (p.Leu1662Arg) c.4931T>G (p.Leu1644Arg) c.4823T>G (p.Leu1608Arg) c.4886T>G (p.Leu1629Arg) c.4856T>G (p.Leu1619Arg) c.4928T>G (p.Leu1643Arg) | |
| 3 | g.38551387A>G | CA352142839 | SCN5A | c.4982T>C (p.Leu1661Pro) c.4985T>C (p.Leu1662Pro) c.4931T>C (p.Leu1644Pro) c.4823T>C (p.Leu1608Pro) c.4886T>C (p.Leu1629Pro) c.4856T>C (p.Leu1619Pro) c.4928T>C (p.Leu1643Pro) | |
| 3 | g.38551387A>T | CA352142840 | SCN5A | c.4982T>A (p.Leu1661Gln) c.4985T>A (p.Leu1662Gln) c.4931T>A (p.Leu1644Gln) c.4823T>A (p.Leu1608Gln) c.4886T>A (p.Leu1629Gln) c.4856T>A (p.Leu1619Gln) c.4928T>A (p.Leu1643Gln) | |
| 3 | g.38551388G>A | CA433332187 | SCN5A | c.4981C>T (p.Leu1661=) c.4984C>T (p.Leu1662=) c.4930C>T (p.Leu1644=) c.4822C>T (p.Leu1608=) c.4885C>T (p.Leu1629=) c.4855C>T (p.Leu1619=) c.4927C>T (p.Leu1643=) | COSMIC COSMIC COSMIC |
| 3 | g.38551388G>C | CA352142841 | SCN5A | c.4981C>G (p.Leu1661Val) c.4984C>G (p.Leu1662Val) c.4930C>G (p.Leu1644Val) c.4822C>G (p.Leu1608Val) c.4885C>G (p.Leu1629Val) c.4855C>G (p.Leu1619Val) c.4927C>G (p.Leu1643Val) | |
| 3 | g.38551388G>T | CA352142842 | SCN5A | c.4981C>A (p.Leu1661Met) c.4984C>A (p.Leu1662Met) c.4930C>A (p.Leu1644Met) c.4822C>A (p.Leu1608Met) c.4885C>A (p.Leu1629Met) c.4855C>A (p.Leu1619Met) c.4927C>A (p.Leu1643Met) | |
| 3 | g.38551389C>A | CA433332190 | SCN5A | c.4980G>T (p.Gly1660=) c.4983G>T (p.Gly1661=) c.4929G>T (p.Gly1643=) c.4821G>T (p.Gly1607=) c.4884G>T (p.Gly1628=) c.4854G>T (p.Gly1618=) c.4926G>T (p.Gly1642=) | |
| 3 | g.38551389C>G | CA433332191 | SCN5A | c.4980G>C (p.Gly1660=) c.4983G>C (p.Gly1661=) c.4929G>C (p.Gly1643=) c.4821G>C (p.Gly1607=) c.4884G>C (p.Gly1628=) c.4854G>C (p.Gly1618=) c.4926G>C (p.Gly1642=) | |
| 3 | g.38551389C>T | CA433332195 | SCN5A | c.4980G>A (p.Gly1660=) c.4983G>A (p.Gly1661=) c.4929G>A (p.Gly1643=) c.4821G>A (p.Gly1607=) c.4884G>A (p.Gly1628=) c.4854G>A (p.Gly1618=) c.4926G>A (p.Gly1642=) | |
| 3 | g.38551390C>A | CA352142844 | SCN5A | c.4979G>T (p.Gly1660Val) c.4982G>T (p.Gly1661Val) c.4928G>T (p.Gly1643Val) c.4820G>T (p.Gly1607Val) c.4883G>T (p.Gly1628Val) c.4853G>T (p.Gly1618Val) c.4925G>T (p.Gly1642Val) | |
| 3 | g.38551390C= | CA1358557951 | SCN5A | c.4979G= (p.Gly1660=) c.4982G= (p.Gly1661=) c.4928G= (p.Gly1643=) c.4820G= (p.Gly1607=) c.4883G= (p.Gly1628=) c.4853G= (p.Gly1618=) c.4925G= (p.Gly1642=) | |
| 3 | g.38551390C>G | CA352142845 | SCN5A | c.4979G>C (p.Gly1660Ala) c.4982G>C (p.Gly1661Ala) c.4928G>C (p.Gly1643Ala) c.4820G>C (p.Gly1607Ala) c.4883G>C (p.Gly1628Ala) c.4853G>C (p.Gly1618Ala) c.4925G>C (p.Gly1642Ala) | dbSNP |
| 3 | g.38551390C>T | CA352142843 | SCN5A | c.4979G>A (p.Gly1660Glu) c.4982G>A (p.Gly1661Glu) c.4928G>A (p.Gly1643Glu) c.4820G>A (p.Gly1607Glu) c.4883G>A (p.Gly1628Glu) c.4853G>A (p.Gly1618Glu) c.4925G>A (p.Gly1642Glu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38551391C>A | CA352142846 | SCN5A | c.4978G>T (p.Gly1660Trp) c.4981G>T (p.Gly1661Trp) c.4927G>T (p.Gly1643Trp) c.4819G>T (p.Gly1607Trp) c.4882G>T (p.Gly1628Trp) c.4852G>T (p.Gly1618Trp) c.4924G>T (p.Gly1642Trp) | |
| 3 | g.38551391C= | CA1358557956 | SCN5A | c.4978G= (p.Gly1660=) c.4981G= (p.Gly1661=) c.4927G= (p.Gly1643=) c.4819G= (p.Gly1607=) c.4882G= (p.Gly1628=) c.4852G= (p.Gly1618=) c.4924G= (p.Gly1642=) | |
| 3 | g.38551391C>G | CA018819 | SCN5A | c.4978G>C (p.Gly1660Arg) c.4981G>C (p.Gly1661Arg) c.4927G>C (p.Gly1643Arg) c.4819G>C (p.Gly1607Arg) c.4882G>C (p.Gly1628Arg) c.4852G>C (p.Gly1618Arg) c.4924G>C (p.Gly1642Arg) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38551391C>T | CA018812 | SCN5A | c.4978G>A (p.Gly1660Arg) c.4981G>A (p.Gly1661Arg) c.4927G>A (p.Gly1643Arg) c.4819G>A (p.Gly1607Arg) c.4882G>A (p.Gly1628Arg) c.4852G>A (p.Gly1618Arg) c.4924G>A (p.Gly1642Arg) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38551392G>A | CA064043 | SCN5A | c.4977C>T (p.Ile1659=) c.4980C>T (p.Ile1660=) c.4926C>T (p.Ile1642=) c.4818C>T (p.Ile1606=) c.4881C>T (p.Ile1627=) c.4851C>T (p.Ile1617=) c.4923C>T (p.Ile1641=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.38551392G>C | CA352142847 | SCN5A | c.4977C>G (p.Ile1659Met) c.4980C>G (p.Ile1660Met) c.4926C>G (p.Ile1642Met) c.4818C>G (p.Ile1606Met) c.4881C>G (p.Ile1627Met) c.4851C>G (p.Ile1617Met) c.4923C>G (p.Ile1641Met) | gnomAD v4 |
| 3 | g.38551392G= | CA1358557962 | SCN5A | c.4977C= (p.Ile1659=) c.4980C= (p.Ile1660=) c.4926C= (p.Ile1642=) c.4818C= (p.Ile1606=) c.4881C= (p.Ile1627=) c.4851C= (p.Ile1617=) c.4923C= (p.Ile1641=) | |
| 3 | g.38551392G>T | CA433332201 | SCN5A | c.4977C>A (p.Ile1659=) c.4980C>A (p.Ile1660=) c.4926C>A (p.Ile1642=) c.4818C>A (p.Ile1606=) c.4881C>A (p.Ile1627=) c.4851C>A (p.Ile1617=) c.4923C>A (p.Ile1641=) | |
| 3 | g.38551393A>C | CA352142848 | SCN5A | c.4976T>G (p.Ile1659Ser) c.4979T>G (p.Ile1660Ser) c.4925T>G (p.Ile1642Ser) c.4817T>G (p.Ile1606Ser) c.4880T>G (p.Ile1627Ser) c.4850T>G (p.Ile1617Ser) c.4922T>G (p.Ile1641Ser) | |
| 3 | g.38551393A>G | CA352142849 | SCN5A | c.4976T>C (p.Ile1659Thr) c.4979T>C (p.Ile1660Thr) c.4925T>C (p.Ile1642Thr) c.4817T>C (p.Ile1606Thr) c.4880T>C (p.Ile1627Thr) c.4850T>C (p.Ile1617Thr) c.4922T>C (p.Ile1641Thr) | ClinVar |
| 3 | g.38551393A>T | CA352142850 | SCN5A | c.4976T>A (p.Ile1659Asn) c.4979T>A (p.Ile1660Asn) c.4925T>A (p.Ile1642Asn) c.4817T>A (p.Ile1606Asn) c.4880T>A (p.Ile1627Asn) c.4850T>A (p.Ile1617Asn) c.4922T>A (p.Ile1641Asn) | |
| 3 | g.38551394T>A | CA352142851 | SCN5A | c.4975A>T (p.Ile1659Phe) c.4978A>T (p.Ile1660Phe) c.4924A>T (p.Ile1642Phe) c.4816A>T (p.Ile1606Phe) c.4879A>T (p.Ile1627Phe) c.4849A>T (p.Ile1617Phe) c.4921A>T (p.Ile1641Phe) | |
| 3 | g.38551394T>C | CA018806 | SCN5A | c.4975A>G (p.Ile1659Val) c.4978A>G (p.Ile1660Val) c.4924A>G (p.Ile1642Val) c.4816A>G (p.Ile1606Val) c.4879A>G (p.Ile1627Val) c.4849A>G (p.Ile1617Val) c.4921A>G (p.Ile1641Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38551394T>G | CA352142852 | SCN5A | c.4975A>C (p.Ile1659Leu) c.4978A>C (p.Ile1660Leu) c.4924A>C (p.Ile1642Leu) c.4816A>C (p.Ile1606Leu) c.4879A>C (p.Ile1627Leu) c.4849A>C (p.Ile1617Leu) c.4921A>C (p.Ile1641Leu) | |
| 3 | g.38551394T= | CA1358557973 | SCN5A | c.4975A= (p.Ile1659=) c.4978A= (p.Ile1660=) c.4924A= (p.Ile1642=) c.4816A= (p.Ile1606=) c.4879A= (p.Ile1627=) c.4849A= (p.Ile1617=) c.4921A= (p.Ile1641=) | |
| 3 | g.38551395G>A | CA433332205 | SCN5A | c.4974C>T (p.Asn1658=) c.4977C>T (p.Asn1659=) c.4923C>T (p.Asn1641=) c.4815C>T (p.Asn1605=) c.4878C>T (p.Asn1626=) c.4848C>T (p.Asn1616=) c.4920C>T (p.Asn1640=) | |
| 3 | g.38551395G>C | CA352142853 | SCN5A | c.4974C>G (p.Asn1658Lys) c.4977C>G (p.Asn1659Lys) c.4923C>G (p.Asn1641Lys) c.4815C>G (p.Asn1605Lys) c.4878C>G (p.Asn1626Lys) c.4848C>G (p.Asn1616Lys) c.4920C>G (p.Asn1640Lys) | |
| 3 | g.38551395G>T | CA352142854 | SCN5A | c.4974C>A (p.Asn1658Lys) c.4977C>A (p.Asn1659Lys) c.4923C>A (p.Asn1641Lys) c.4815C>A (p.Asn1605Lys) c.4878C>A (p.Asn1626Lys) c.4848C>A (p.Asn1616Lys) c.4920C>A (p.Asn1640Lys) | |
| 3 | g.38551396T>A | CA352142855 | SCN5A | c.4973A>T (p.Asn1658Ile) c.4976A>T (p.Asn1659Ile) c.4922A>T (p.Asn1641Ile) c.4814A>T (p.Asn1605Ile) c.4877A>T (p.Asn1626Ile) c.4847A>T (p.Asn1616Ile) c.4919A>T (p.Asn1640Ile) | |
| 3 | g.38551396T>C | CA352142857 | SCN5A | c.4973A>G (p.Asn1658Ser) c.4976A>G (p.Asn1659Ser) c.4922A>G (p.Asn1641Ser) c.4814A>G (p.Asn1605Ser) c.4877A>G (p.Asn1626Ser) c.4847A>G (p.Asn1616Ser) c.4919A>G (p.Asn1640Ser) | ClinVar dbSNP |
| 3 | g.38551396T>G | CA352142856 | SCN5A | c.4973A>C (p.Asn1658Thr) c.4976A>C (p.Asn1659Thr) c.4922A>C (p.Asn1641Thr) c.4814A>C (p.Asn1605Thr) c.4877A>C (p.Asn1626Thr) c.4847A>C (p.Asn1616Thr) c.4919A>C (p.Asn1640Thr) | |
| 3 | g.38551396T= | CA1358557979 | SCN5A | c.4973A= (p.Asn1658=) c.4976A= (p.Asn1659=) c.4922A= (p.Asn1641=) c.4814A= (p.Asn1605=) c.4877A= (p.Asn1626=) c.4847A= (p.Asn1616=) c.4919A= (p.Asn1640=) |