| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.38551143C>A | CA433332259 | SCN5A | c.5226G>T (p.Gly1742=) c.5229G>T (p.Gly1743=) c.5175G>T (p.Gly1725=) c.5067G>T (p.Gly1689=) c.5130G>T (p.Gly1710=) c.5100G>T (p.Gly1700=) c.5172G>T (p.Gly1724=) | dbSNP |
| 3 | g.38551143C= | CA1358557425 | SCN5A | c.5226G= (p.Gly1742=) c.5229G= (p.Gly1743=) c.5175G= (p.Gly1725=) c.5067G= (p.Gly1689=) c.5130G= (p.Gly1710=) c.5100G= (p.Gly1700=) c.5172G= (p.Gly1724=) | |
| 3 | g.38551143C>G | CA433332262 | SCN5A | c.5226G>C (p.Gly1742=) c.5229G>C (p.Gly1743=) c.5175G>C (p.Gly1725=) c.5067G>C (p.Gly1689=) c.5130G>C (p.Gly1710=) c.5100G>C (p.Gly1700=) c.5172G>C (p.Gly1724=) | ClinVar gnomAD v4 |
| 3 | g.38551143C>T | CA72938028 | SCN5A | c.5226G>A (p.Gly1742=) c.5229G>A (p.Gly1743=) c.5175G>A (p.Gly1725=) c.5067G>A (p.Gly1689=) c.5130G>A (p.Gly1710=) c.5100G>A (p.Gly1700=) c.5172G>A (p.Gly1724=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38551144C>A | CA352141866 | SCN5A | c.5225G>T (p.Gly1742Val) c.5228G>T (p.Gly1743Val) c.5174G>T (p.Gly1725Val) c.5066G>T (p.Gly1689Val) c.5129G>T (p.Gly1710Val) c.5099G>T (p.Gly1700Val) c.5171G>T (p.Gly1724Val) | |
| 3 | g.38551144C= | CA1358557426 | SCN5A | c.5225G= (p.Gly1742=) c.5228G= (p.Gly1743=) c.5174G= (p.Gly1725=) c.5066G= (p.Gly1689=) c.5129G= (p.Gly1710=) c.5099G= (p.Gly1700=) c.5171G= (p.Gly1724=) | |
| 3 | g.38551144C>G | CA352141868 | SCN5A | c.5225G>C (p.Gly1742Ala) c.5228G>C (p.Gly1743Ala) c.5174G>C (p.Gly1725Ala) c.5066G>C (p.Gly1689Ala) c.5129G>C (p.Gly1710Ala) c.5099G>C (p.Gly1700Ala) c.5171G>C (p.Gly1724Ala) | |
| 3 | g.38551144C>T | CA019022 | SCN5A | c.5225G>A (p.Gly1742Glu) c.5228G>A (p.Gly1743Glu) c.5174G>A (p.Gly1725Glu) c.5066G>A (p.Gly1689Glu) c.5129G>A (p.Gly1710Glu) c.5099G>A (p.Gly1700Glu) c.5171G>A (p.Gly1724Glu) | ClinVar dbSNP |
| 3 | g.38551145C>A | CA352141874 | SCN5A | c.5224G>T (p.Gly1742Trp) c.5227G>T (p.Gly1743Trp) c.5173G>T (p.Gly1725Trp) c.5065G>T (p.Gly1689Trp) c.5128G>T (p.Gly1710Trp) c.5098G>T (p.Gly1700Trp) c.5170G>T (p.Gly1724Trp) | |
| 3 | g.38551145C= | CA1358557430 | SCN5A | c.5224G= (p.Gly1742=) c.5227G= (p.Gly1743=) c.5173G= (p.Gly1725=) c.5065G= (p.Gly1689=) c.5128G= (p.Gly1710=) c.5098G= (p.Gly1700=) c.5170G= (p.Gly1724=) | |
| 3 | g.38551145C>G | CA352141871 | SCN5A | c.5224G>C (p.Gly1742Arg) c.5227G>C (p.Gly1743Arg) c.5173G>C (p.Gly1725Arg) c.5065G>C (p.Gly1689Arg) c.5128G>C (p.Gly1710Arg) c.5098G>C (p.Gly1700Arg) c.5170G>C (p.Gly1724Arg) | |
| 3 | g.38551145C>T | CA019015 | SCN5A | c.5224G>A (p.Gly1742Arg) c.5227G>A (p.Gly1743Arg) c.5173G>A (p.Gly1725Arg) c.5065G>A (p.Gly1689Arg) c.5128G>A (p.Gly1710Arg) c.5098G>A (p.Gly1700Arg) c.5170G>A (p.Gly1724Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.38551146G>A | CA10582188 | SCN5A | c.5223C>T (p.Cys1741=) c.5226C>T (p.Cys1742=) c.5172C>T (p.Cys1724=) c.5064C>T (p.Cys1688=) c.5127C>T (p.Cys1709=) c.5097C>T (p.Cys1699=) c.5169C>T (p.Cys1723=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.38551146G>C | CA352141876 | SCN5A | c.5223C>G (p.Cys1741Trp) c.5226C>G (p.Cys1742Trp) c.5172C>G (p.Cys1724Trp) c.5064C>G (p.Cys1688Trp) c.5127C>G (p.Cys1709Trp) c.5097C>G (p.Cys1699Trp) c.5169C>G (p.Cys1723Trp) | |
| 3 | g.38551146G= | CA1358557435 | SCN5A | c.5223C= (p.Cys1741=) c.5226C= (p.Cys1742=) c.5172C= (p.Cys1724=) c.5064C= (p.Cys1688=) c.5127C= (p.Cys1709=) c.5097C= (p.Cys1699=) c.5169C= (p.Cys1723=) | |
| 3 | g.38551146G>T | CA352141878 | SCN5A | c.5223C>A (p.Cys1741Ter) c.5226C>A (p.Cys1742Ter) c.5172C>A (p.Cys1724Ter) c.5064C>A (p.Cys1688Ter) c.5127C>A (p.Cys1709Ter) c.5097C>A (p.Cys1699Ter) c.5169C>A (p.Cys1723Ter) | |
| 3 | g.38551147C>A | CA352141880 | SCN5A | c.5222G>T (p.Cys1741Phe) c.5225G>T (p.Cys1742Phe) c.5171G>T (p.Cys1724Phe) c.5063G>T (p.Cys1688Phe) c.5126G>T (p.Cys1709Phe) c.5096G>T (p.Cys1699Phe) c.5168G>T (p.Cys1723Phe) | |
| 3 | g.38551147C>G | CA352141881 | SCN5A | c.5222G>C (p.Cys1741Ser) c.5225G>C (p.Cys1742Ser) c.5171G>C (p.Cys1724Ser) c.5063G>C (p.Cys1688Ser) c.5126G>C (p.Cys1709Ser) c.5096G>C (p.Cys1699Ser) c.5168G>C (p.Cys1723Ser) | |
| 3 | g.38551147C>T | CA352141883 | SCN5A | c.5222G>A (p.Cys1741Tyr) c.5225G>A (p.Cys1742Tyr) c.5171G>A (p.Cys1724Tyr) c.5063G>A (p.Cys1688Tyr) c.5126G>A (p.Cys1709Tyr) c.5096G>A (p.Cys1699Tyr) c.5168G>A (p.Cys1723Tyr) | |
| 3 | g.38551148A>C | CA352141888 | SCN5A | c.5221T>G (p.Cys1741Gly) c.5224T>G (p.Cys1742Gly) c.5170T>G (p.Cys1724Gly) c.5062T>G (p.Cys1688Gly) c.5125T>G (p.Cys1709Gly) c.5095T>G (p.Cys1699Gly) c.5167T>G (p.Cys1723Gly) | |
| 3 | g.38551148A>G | CA352141890 | SCN5A | c.5221T>C (p.Cys1741Arg) c.5224T>C (p.Cys1742Arg) c.5170T>C (p.Cys1724Arg) c.5062T>C (p.Cys1688Arg) c.5125T>C (p.Cys1709Arg) c.5095T>C (p.Cys1699Arg) c.5167T>C (p.Cys1723Arg) | |
| 3 | g.38551148A>T | CA352141892 | SCN5A | c.5221T>A (p.Cys1741Ser) c.5224T>A (p.Cys1742Ser) c.5170T>A (p.Cys1724Ser) c.5062T>A (p.Cys1688Ser) c.5125T>A (p.Cys1709Ser) c.5095T>A (p.Cys1699Ser) c.5167T>A (p.Cys1723Ser) | |
| 3 | g.38551149G>A | CA433332277 | SCN5A | c.5220C>T (p.Asp1740=) c.5223C>T (p.Asp1741=) c.5169C>T (p.Asp1723=) c.5061C>T (p.Asp1687=) c.5124C>T (p.Asp1708=) c.5094C>T (p.Asp1698=) c.5166C>T (p.Asp1722=) | gnomAD v4 |
| 3 | g.38551149G>C | CA352141894 | SCN5A | c.5220C>G (p.Asp1740Glu) c.5223C>G (p.Asp1741Glu) c.5169C>G (p.Asp1723Glu) c.5061C>G (p.Asp1687Glu) c.5124C>G (p.Asp1708Glu) c.5094C>G (p.Asp1698Glu) c.5166C>G (p.Asp1722Glu) | |
| 3 | g.38551149G= | CA1358557437 | SCN5A | c.5220C= (p.Asp1740=) c.5223C= (p.Asp1741=) c.5169C= (p.Asp1723=) c.5061C= (p.Asp1687=) c.5124C= (p.Asp1708=) c.5094C= (p.Asp1698=) c.5166C= (p.Asp1722=) | |
| 3 | g.38551149G>T | CA352141896 | SCN5A | c.5220C>A (p.Asp1740Glu) c.5223C>A (p.Asp1741Glu) c.5169C>A (p.Asp1723Glu) c.5061C>A (p.Asp1687Glu) c.5124C>A (p.Asp1708Glu) c.5094C>A (p.Asp1698Glu) c.5166C>A (p.Asp1722Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38551150T>A | CA352141901 | SCN5A | c.5219A>T (p.Asp1740Val) c.5222A>T (p.Asp1741Val) c.5168A>T (p.Asp1723Val) c.5060A>T (p.Asp1687Val) c.5123A>T (p.Asp1708Val) c.5093A>T (p.Asp1698Val) c.5165A>T (p.Asp1722Val) | |
| 3 | g.38551150T>C | CA352141900 | SCN5A | c.5219A>G (p.Asp1740Gly) c.5222A>G (p.Asp1741Gly) c.5168A>G (p.Asp1723Gly) c.5060A>G (p.Asp1687Gly) c.5123A>G (p.Asp1708Gly) c.5093A>G (p.Asp1698Gly) c.5165A>G (p.Asp1722Gly) | |
| 3 | g.38551150T>G | CA352141898 | SCN5A | c.5219A>C (p.Asp1740Ala) c.5222A>C (p.Asp1741Ala) c.5168A>C (p.Asp1723Ala) c.5060A>C (p.Asp1687Ala) c.5123A>C (p.Asp1708Ala) c.5093A>C (p.Asp1698Ala) c.5165A>C (p.Asp1722Ala) | |
| 3 | g.38551150T= | CA1358557439 | SCN5A | c.5219A= (p.Asp1740=) c.5222A= (p.Asp1741=) c.5168A= (p.Asp1723=) c.5060A= (p.Asp1687=) c.5123A= (p.Asp1708=) c.5093A= (p.Asp1698=) c.5165A= (p.Asp1722=) | |
| 3 | g.38551151C>A | CA019009 | SCN5A | c.5218G>T (p.Asp1740Tyr) c.5221G>T (p.Asp1741Tyr) c.5167G>T (p.Asp1723Tyr) c.5059G>T (p.Asp1687Tyr) c.5122G>T (p.Asp1708Tyr) c.5092G>T (p.Asp1698Tyr) c.5164G>T (p.Asp1722Tyr) | ClinVar dbSNP |
| 3 | g.38551151C= | CA1358557446 | SCN5A | c.5218G= (p.Asp1740=) c.5221G= (p.Asp1741=) c.5167G= (p.Asp1723=) c.5059G= (p.Asp1687=) c.5122G= (p.Asp1708=) c.5092G= (p.Asp1698=) c.5164G= (p.Asp1722=) | |
| 3 | g.38551151C>G | CA352141905 | SCN5A | c.5218G>C (p.Asp1740His) c.5221G>C (p.Asp1741His) c.5167G>C (p.Asp1723His) c.5059G>C (p.Asp1687His) c.5122G>C (p.Asp1708His) c.5092G>C (p.Asp1698His) c.5164G>C (p.Asp1722His) | dbSNP |
| 3 | g.38551151C>T | CA064269 | SCN5A | c.5218G>A (p.Asp1740Asn) c.5221G>A (p.Asp1741Asn) c.5167G>A (p.Asp1723Asn) c.5059G>A (p.Asp1687Asn) c.5122G>A (p.Asp1708Asn) c.5092G>A (p.Asp1698Asn) c.5164G>A (p.Asp1722Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38551156dup | CA542615526 | SCN5A | c.5218dup (p.Asp1740GlyfsTer?) c.5221dup (p.Asp1741GlyfsTer?) c.5167dup (p.Asp1723GlyfsTer?) c.5059dup (p.Asp1687GlyfsTer?) c.5122dup (p.Asp1708GlyfsTer?) c.5092dup (p.Asp1698GlyfsTer?) c.5164dup (p.Asp1722GlyfsTer?) | dbSNP gnomAD v2 |
| 3 | g.38551156del | CA645535366 | SCN5A | c.5218del (p.Asp1740ThrfsTer?) c.5221del (p.Asp1741ThrfsTer?) c.5167del (p.Asp1723ThrfsTer?) c.5059del (p.Asp1687ThrfsTer?) c.5122del (p.Asp1708ThrfsTer?) c.5092del (p.Asp1698ThrfsTer?) c.5164del (p.Asp1722ThrfsTer?) | ClinVar dbSNP COSMIC COSMIC COSMIC |
| 3 | g.38551154_38551156del | CA2665106746 | SCN5A | c.5216_5218del (p.Gly1739del) c.5219_5221del (p.Gly1740del) c.5165_5167del (p.Gly1722del) c.5057_5059del (p.Gly1686del) c.5120_5122del (p.Gly1707del) c.5090_5092del (p.Gly1697del) c.5162_5164del (p.Gly1721del) | gnomAD v4 |
| 3 | g.38551152C>A | CA433332288 | SCN5A | c.5217G>T (p.Gly1739=) c.5220G>T (p.Gly1740=) c.5166G>T (p.Gly1722=) c.5058G>T (p.Gly1686=) c.5121G>T (p.Gly1707=) c.5091G>T (p.Gly1697=) c.5163G>T (p.Gly1721=) | |
| 3 | g.38551152C= | CA1358557452 | SCN5A | c.5217G= (p.Gly1739=) c.5220G= (p.Gly1740=) c.5166G= (p.Gly1722=) c.5058G= (p.Gly1686=) c.5121G= (p.Gly1707=) c.5091G= (p.Gly1697=) c.5163G= (p.Gly1721=) | |
| 3 | g.38551152C>G | CA433332287 | SCN5A | c.5217G>C (p.Gly1739=) c.5220G>C (p.Gly1740=) c.5166G>C (p.Gly1722=) c.5058G>C (p.Gly1686=) c.5121G>C (p.Gly1707=) c.5091G>C (p.Gly1697=) c.5163G>C (p.Gly1721=) | |
| 3 | g.38551152C>T | CA064264 | SCN5A | c.5217G>A (p.Gly1739=) c.5220G>A (p.Gly1740=) c.5166G>A (p.Gly1722=) c.5058G>A (p.Gly1686=) c.5121G>A (p.Gly1707=) c.5091G>A (p.Gly1697=) c.5163G>A (p.Gly1721=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38551153C>A | CA352141909 | SCN5A | c.5216G>T (p.Gly1739Val) c.5219G>T (p.Gly1740Val) c.5165G>T (p.Gly1722Val) c.5057G>T (p.Gly1686Val) c.5120G>T (p.Gly1707Val) c.5090G>T (p.Gly1697Val) c.5162G>T (p.Gly1721Val) | |
| 3 | g.38551153C>G | CA352141911 | SCN5A | c.5216G>C (p.Gly1739Ala) c.5219G>C (p.Gly1740Ala) c.5165G>C (p.Gly1722Ala) c.5057G>C (p.Gly1686Ala) c.5120G>C (p.Gly1707Ala) c.5090G>C (p.Gly1697Ala) c.5162G>C (p.Gly1721Ala) | |
| 3 | g.38551153C>T | CA352141912 | SCN5A | c.5216G>A (p.Gly1739Glu) c.5219G>A (p.Gly1740Glu) c.5165G>A (p.Gly1722Glu) c.5057G>A (p.Gly1686Glu) c.5120G>A (p.Gly1707Glu) c.5090G>A (p.Gly1697Glu) c.5162G>A (p.Gly1721Glu) | ClinVar |
| 3 | g.38551154C>A | CA352141914 | SCN5A | c.5215G>T (p.Gly1739Trp) c.5218G>T (p.Gly1740Trp) c.5164G>T (p.Gly1722Trp) c.5056G>T (p.Gly1686Trp) c.5119G>T (p.Gly1707Trp) c.5089G>T (p.Gly1697Trp) c.5161G>T (p.Gly1721Trp) | |
| 3 | g.38551154C= | CA1358557456 | SCN5A | c.5215G= (p.Gly1739=) c.5218G= (p.Gly1740=) c.5164G= (p.Gly1722=) c.5056G= (p.Gly1686=) c.5119G= (p.Gly1707=) c.5089G= (p.Gly1697=) c.5161G= (p.Gly1721=) | |
| 3 | g.38551154C>G | CA352141917 | SCN5A | c.5215G>C (p.Gly1739Arg) c.5218G>C (p.Gly1740Arg) c.5164G>C (p.Gly1722Arg) c.5056G>C (p.Gly1686Arg) c.5119G>C (p.Gly1707Arg) c.5089G>C (p.Gly1697Arg) c.5161G>C (p.Gly1721Arg) | |
| 3 | g.38551154C>T | CA019005 | SCN5A | c.5215G>A (p.Gly1739Arg) c.5218G>A (p.Gly1740Arg) c.5164G>A (p.Gly1722Arg) c.5056G>A (p.Gly1686Arg) c.5119G>A (p.Gly1707Arg) c.5089G>A (p.Gly1697Arg) c.5161G>A (p.Gly1721Arg) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38551155C>A | CA433332291 | SCN5A | c.5214G>T (p.Arg1738=) c.5217G>T (p.Arg1739=) c.5163G>T (p.Arg1721=) c.5055G>T (p.Arg1685=) c.5118G>T (p.Arg1706=) c.5088G>T (p.Arg1696=) c.5160G>T (p.Arg1720=) | |
| 3 | g.38551155C= | CA1358557462 | SCN5A | c.5214G= (p.Arg1738=) c.5217G= (p.Arg1739=) c.5163G= (p.Arg1721=) c.5055G= (p.Arg1685=) c.5118G= (p.Arg1706=) c.5088G= (p.Arg1696=) c.5160G= (p.Arg1720=) | |
| 3 | g.38551155C>G | CA433332290 | SCN5A | c.5214G>C (p.Arg1738=) c.5217G>C (p.Arg1739=) c.5163G>C (p.Arg1721=) c.5055G>C (p.Arg1685=) c.5118G>C (p.Arg1706=) c.5088G>C (p.Arg1696=) c.5160G>C (p.Arg1720=) | dbSNP |
| 3 | g.38551155C>T | CA064259 | SCN5A | c.5214G>A (p.Arg1738=) c.5217G>A (p.Arg1739=) c.5163G>A (p.Arg1721=) c.5055G>A (p.Arg1685=) c.5118G>A (p.Arg1706=) c.5088G>A (p.Arg1696=) c.5160G>A (p.Arg1720=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38551156C>A | CA352141920 | SCN5A | c.5213G>T (p.Arg1738Leu) c.5216G>T (p.Arg1739Leu) c.5162G>T (p.Arg1721Leu) c.5054G>T (p.Arg1685Leu) c.5117G>T (p.Arg1706Leu) c.5087G>T (p.Arg1696Leu) c.5159G>T (p.Arg1720Leu) | gnomAD v4 |
| 3 | g.38551156C= | CA1358557468 | SCN5A | c.5213G= (p.Arg1738=) c.5216G= (p.Arg1739=) c.5162G= (p.Arg1721=) c.5054G= (p.Arg1685=) c.5117G= (p.Arg1706=) c.5087G= (p.Arg1696=) c.5159G= (p.Arg1720=) | |
| 3 | g.38551156C>G | CA352141921 | SCN5A | c.5213G>C (p.Arg1738Pro) c.5216G>C (p.Arg1739Pro) c.5162G>C (p.Arg1721Pro) c.5054G>C (p.Arg1685Pro) c.5117G>C (p.Arg1706Pro) c.5087G>C (p.Arg1696Pro) c.5159G>C (p.Arg1720Pro) | |
| 3 | g.38551156C>T | CA019000 | SCN5A | c.5213G>A (p.Arg1738Gln) c.5216G>A (p.Arg1739Gln) c.5162G>A (p.Arg1721Gln) c.5054G>A (p.Arg1685Gln) c.5117G>A (p.Arg1706Gln) c.5087G>A (p.Arg1696Gln) c.5159G>A (p.Arg1720Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38551157G>A | CA018994 | SCN5A | c.5212C>T (p.Arg1738Trp) c.5215C>T (p.Arg1739Trp) c.5161C>T (p.Arg1721Trp) c.5053C>T (p.Arg1685Trp) c.5116C>T (p.Arg1706Trp) c.5086C>T (p.Arg1696Trp) c.5158C>T (p.Arg1720Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38551157G>C | CA352141926 | SCN5A | c.5212C>G (p.Arg1738Gly) c.5215C>G (p.Arg1739Gly) c.5161C>G (p.Arg1721Gly) c.5053C>G (p.Arg1685Gly) c.5116C>G (p.Arg1706Gly) c.5086C>G (p.Arg1696Gly) c.5158C>G (p.Arg1720Gly) | |
| 3 | g.38551157G= | CA1358557478 | SCN5A | c.5212C= (p.Arg1738=) c.5215C= (p.Arg1739=) c.5161C= (p.Arg1721=) c.5053C= (p.Arg1685=) c.5116C= (p.Arg1706=) c.5086C= (p.Arg1696=) c.5158C= (p.Arg1720=) | |
| 3 | g.38551157G>T | CA064248 | SCN5A | c.5212C>A (p.Arg1738=) c.5215C>A (p.Arg1739=) c.5161C>A (p.Arg1721=) c.5053C>A (p.Arg1685=) c.5116C>A (p.Arg1706=) c.5086C>A (p.Arg1696=) c.5158C>A (p.Arg1720=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38551158A= | CA1358557480 | SCN5A | c.5211T= (p.Ser1737=) c.5214T= (p.Ser1738=) c.5160T= (p.Ser1720=) c.5052T= (p.Ser1684=) c.5115T= (p.Ser1705=) c.5085T= (p.Ser1695=) c.5157T= (p.Ser1719=) | |
| 3 | g.38551158A>C | CA433332296 | SCN5A | c.5211T>G (p.Ser1737=) c.5214T>G (p.Ser1738=) c.5160T>G (p.Ser1720=) c.5052T>G (p.Ser1684=) c.5115T>G (p.Ser1705=) c.5085T>G (p.Ser1695=) c.5157T>G (p.Ser1719=) | |
| 3 | g.38551158A>G | CA064244 | SCN5A | c.5211T>C (p.Ser1737=) c.5214T>C (p.Ser1738=) c.5160T>C (p.Ser1720=) c.5052T>C (p.Ser1684=) c.5115T>C (p.Ser1705=) c.5085T>C (p.Ser1695=) c.5157T>C (p.Ser1719=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38551158A>T | CA433332297 | SCN5A | c.5211T>A (p.Ser1737=) c.5214T>A (p.Ser1738=) c.5160T>A (p.Ser1720=) c.5052T>A (p.Ser1684=) c.5115T>A (p.Ser1705=) c.5085T>A (p.Ser1695=) c.5157T>A (p.Ser1719=) | |
| 3 | g.38551159G>A | CA018989 | SCN5A | c.5210C>T (p.Ser1737Phe) c.5213C>T (p.Ser1738Phe) c.5159C>T (p.Ser1720Phe) c.5051C>T (p.Ser1684Phe) c.5114C>T (p.Ser1705Phe) c.5084C>T (p.Ser1695Phe) c.5156C>T (p.Ser1719Phe) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38551159G>C | CA352141930 | SCN5A | c.5210C>G (p.Ser1737Cys) c.5213C>G (p.Ser1738Cys) c.5159C>G (p.Ser1720Cys) c.5051C>G (p.Ser1684Cys) c.5114C>G (p.Ser1705Cys) c.5084C>G (p.Ser1695Cys) c.5156C>G (p.Ser1719Cys) | dbSNP |
| 3 | g.38551159G= | CA1358557487 | SCN5A | c.5210C= (p.Ser1737=) c.5213C= (p.Ser1738=) c.5159C= (p.Ser1720=) c.5051C= (p.Ser1684=) c.5114C= (p.Ser1705=) c.5084C= (p.Ser1695=) c.5156C= (p.Ser1719=) | |
| 3 | g.38551159G>T | CA352141932 | SCN5A | c.5210C>A (p.Ser1737Tyr) c.5213C>A (p.Ser1738Tyr) c.5159C>A (p.Ser1720Tyr) c.5051C>A (p.Ser1684Tyr) c.5114C>A (p.Ser1705Tyr) c.5084C>A (p.Ser1695Tyr) c.5156C>A (p.Ser1719Tyr) | |
| 3 | g.38551160A= | CA1358557492 | SCN5A | c.5209T= (p.Ser1737=) c.5212T= (p.Ser1738=) c.5158T= (p.Ser1720=) c.5050T= (p.Ser1684=) c.5113T= (p.Ser1705=) c.5083T= (p.Ser1695=) c.5155T= (p.Ser1719=) | |
| 3 | g.38551160A>C | CA352141933 | SCN5A | c.5209T>G (p.Ser1737Ala) c.5212T>G (p.Ser1738Ala) c.5158T>G (p.Ser1720Ala) c.5050T>G (p.Ser1684Ala) c.5113T>G (p.Ser1705Ala) c.5083T>G (p.Ser1695Ala) c.5155T>G (p.Ser1719Ala) | |
| 3 | g.38551160A>G | CA352141935 | SCN5A | c.5209T>C (p.Ser1737Pro) c.5212T>C (p.Ser1738Pro) c.5158T>C (p.Ser1720Pro) c.5050T>C (p.Ser1684Pro) c.5113T>C (p.Ser1705Pro) c.5083T>C (p.Ser1695Pro) c.5155T>C (p.Ser1719Pro) | gnomAD v4 |
| 3 | g.38551160A>T | CA064240 | SCN5A | c.5209T>A (p.Ser1737Thr) c.5212T>A (p.Ser1738Thr) c.5158T>A (p.Ser1720Thr) c.5050T>A (p.Ser1684Thr) c.5113T>A (p.Ser1705Thr) c.5083T>A (p.Ser1695Thr) c.5155T>A (p.Ser1719Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38551161G>A | CA433332302 | SCN5A | c.5208C>T (p.Gly1736=) c.5211C>T (p.Gly1737=) c.5157C>T (p.Gly1719=) c.5049C>T (p.Gly1683=) c.5112C>T (p.Gly1704=) c.5082C>T (p.Gly1694=) c.5154C>T (p.Gly1718=) | ClinVar gnomAD v4 |
| 3 | g.38551161G>C | CA433332303 | SCN5A | c.5208C>G (p.Gly1736=) c.5211C>G (p.Gly1737=) c.5157C>G (p.Gly1719=) c.5049C>G (p.Gly1683=) c.5112C>G (p.Gly1704=) c.5082C>G (p.Gly1694=) c.5154C>G (p.Gly1718=) | |
| 3 | g.38551161G>T | CA433332304 | SCN5A | c.5208C>A (p.Gly1736=) c.5211C>A (p.Gly1737=) c.5157C>A (p.Gly1719=) c.5049C>A (p.Gly1683=) c.5112C>A (p.Gly1704=) c.5082C>A (p.Gly1694=) c.5154C>A (p.Gly1718=) | |
| 3 | g.38551162C>A | CA352141938 | SCN5A | c.5207G>T (p.Gly1736Val) c.5210G>T (p.Gly1737Val) c.5156G>T (p.Gly1719Val) c.5048G>T (p.Gly1683Val) c.5111G>T (p.Gly1704Val) c.5081G>T (p.Gly1694Val) c.5153G>T (p.Gly1718Val) | |
| 3 | g.38551162C= | CA1358557498 | SCN5A | c.5207G= (p.Gly1736=) c.5210G= (p.Gly1737=) c.5156G= (p.Gly1719=) c.5048G= (p.Gly1683=) c.5111G= (p.Gly1704=) c.5081G= (p.Gly1694=) c.5153G= (p.Gly1718=) | |
| 3 | g.38551162C>G | CA352141940 | SCN5A | c.5207G>C (p.Gly1736Ala) c.5210G>C (p.Gly1737Ala) c.5156G>C (p.Gly1719Ala) c.5048G>C (p.Gly1683Ala) c.5111G>C (p.Gly1704Ala) c.5081G>C (p.Gly1694Ala) c.5153G>C (p.Gly1718Ala) | |
| 3 | g.38551162C>T | CA064236 | SCN5A | c.5207G>A (p.Gly1736Asp) c.5210G>A (p.Gly1737Asp) c.5156G>A (p.Gly1719Asp) c.5048G>A (p.Gly1683Asp) c.5111G>A (p.Gly1704Asp) c.5081G>A (p.Gly1694Asp) c.5153G>A (p.Gly1718Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.38551163C>A | CA352141942 | SCN5A | c.5206G>T (p.Gly1736Cys) c.5209G>T (p.Gly1737Cys) c.5155G>T (p.Gly1719Cys) c.5047G>T (p.Gly1683Cys) c.5110G>T (p.Gly1704Cys) c.5080G>T (p.Gly1694Cys) c.5152G>T (p.Gly1718Cys) | |
| 3 | g.38551163C>G | CA352141946 | SCN5A | c.5206G>C (p.Gly1736Arg) c.5209G>C (p.Gly1737Arg) c.5155G>C (p.Gly1719Arg) c.5047G>C (p.Gly1683Arg) c.5110G>C (p.Gly1704Arg) c.5080G>C (p.Gly1694Arg) c.5152G>C (p.Gly1718Arg) | |
| 3 | g.38551163C>T | CA352141944 | SCN5A | c.5206G>A (p.Gly1736Ser) c.5209G>A (p.Gly1737Ser) c.5155G>A (p.Gly1719Ser) c.5047G>A (p.Gly1683Ser) c.5110G>A (p.Gly1704Ser) c.5080G>A (p.Gly1694Ser) c.5152G>A (p.Gly1718Ser) | |
| 3 | g.38551164A= | CA1358557500 | SCN5A | c.5205T= (p.Asn1735=) c.5208T= (p.Asn1736=) c.5154T= (p.Asn1718=) c.5046T= (p.Asn1682=) c.5109T= (p.Asn1703=) c.5079T= (p.Asn1693=) c.5151T= (p.Asn1717=) | |
| 3 | g.38551164A>C | CA352141948 | SCN5A | c.5205T>G (p.Asn1735Lys) c.5208T>G (p.Asn1736Lys) c.5154T>G (p.Asn1718Lys) c.5046T>G (p.Asn1682Lys) c.5109T>G (p.Asn1703Lys) c.5079T>G (p.Asn1693Lys) c.5151T>G (p.Asn1717Lys) | |
| 3 | g.38551164A>G | CA433332308 | SCN5A | c.5205T>C (p.Asn1735=) c.5208T>C (p.Asn1736=) c.5154T>C (p.Asn1718=) c.5046T>C (p.Asn1682=) c.5109T>C (p.Asn1703=) c.5079T>C (p.Asn1693=) c.5151T>C (p.Asn1717=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38551164A>T | CA352141949 | SCN5A | c.5205T>A (p.Asn1735Lys) c.5208T>A (p.Asn1736Lys) c.5154T>A (p.Asn1718Lys) c.5046T>A (p.Asn1682Lys) c.5109T>A (p.Asn1703Lys) c.5079T>A (p.Asn1693Lys) c.5151T>A (p.Asn1717Lys) | |
| 3 | g.38551165T>A | CA352141951 | SCN5A | c.5204A>T (p.Asn1735Ile) c.5207A>T (p.Asn1736Ile) c.5153A>T (p.Asn1718Ile) c.5045A>T (p.Asn1682Ile) c.5108A>T (p.Asn1703Ile) c.5078A>T (p.Asn1693Ile) c.5150A>T (p.Asn1717Ile) | |
| 3 | g.38551165T>C | CA352141954 | SCN5A | c.5204A>G (p.Asn1735Ser) c.5207A>G (p.Asn1736Ser) c.5153A>G (p.Asn1718Ser) c.5045A>G (p.Asn1682Ser) c.5108A>G (p.Asn1703Ser) c.5078A>G (p.Asn1693Ser) c.5150A>G (p.Asn1717Ser) | dbSNP |
| 3 | g.38551165T>G | CA352141953 | SCN5A | c.5204A>C (p.Asn1735Thr) c.5207A>C (p.Asn1736Thr) c.5153A>C (p.Asn1718Thr) c.5045A>C (p.Asn1682Thr) c.5108A>C (p.Asn1703Thr) c.5078A>C (p.Asn1693Thr) c.5150A>C (p.Asn1717Thr) | |
| 3 | g.38551165T= | CA1358557502 | SCN5A | c.5204A= (p.Asn1735=) c.5207A= (p.Asn1736=) c.5153A= (p.Asn1718=) c.5045A= (p.Asn1682=) c.5108A= (p.Asn1703=) c.5078A= (p.Asn1693=) c.5150A= (p.Asn1717=) | |
| 3 | g.38551166T>A | CA352141955 | SCN5A | c.5203A>T (p.Asn1735Tyr) c.5206A>T (p.Asn1736Tyr) c.5152A>T (p.Asn1718Tyr) c.5044A>T (p.Asn1682Tyr) c.5107A>T (p.Asn1703Tyr) c.5077A>T (p.Asn1693Tyr) c.5149A>T (p.Asn1717Tyr) | |
| 3 | g.38551166T>C | CA72938064 | SCN5A | c.5203A>G (p.Asn1735Asp) c.5206A>G (p.Asn1736Asp) c.5152A>G (p.Asn1718Asp) c.5044A>G (p.Asn1682Asp) c.5107A>G (p.Asn1703Asp) c.5077A>G (p.Asn1693Asp) c.5149A>G (p.Asn1717Asp) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38551166T>G | CA352141957 | SCN5A | c.5203A>C (p.Asn1735His) c.5206A>C (p.Asn1736His) c.5152A>C (p.Asn1718His) c.5044A>C (p.Asn1682His) c.5107A>C (p.Asn1703His) c.5077A>C (p.Asn1693His) c.5149A>C (p.Asn1717His) | |
| 3 | g.38551166T= | CA1358557504 | SCN5A | c.5203A= (p.Asn1735=) c.5206A= (p.Asn1736=) c.5152A= (p.Asn1718=) c.5044A= (p.Asn1682=) c.5107A= (p.Asn1703=) c.5077A= (p.Asn1693=) c.5149A= (p.Asn1717=) | |
| 3 | g.38551167G>A | CA064224 | SCN5A | c.5202C>T (p.Ser1734=) c.5205C>T (p.Ser1735=) c.5151C>T (p.Ser1717=) c.5043C>T (p.Ser1681=) c.5106C>T (p.Ser1702=) c.5076C>T (p.Ser1692=) c.5148C>T (p.Ser1716=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38551167G>C | CA352141960 | SCN5A | c.5202C>G (p.Ser1734Arg) c.5205C>G (p.Ser1735Arg) c.5151C>G (p.Ser1717Arg) c.5043C>G (p.Ser1681Arg) c.5106C>G (p.Ser1702Arg) c.5076C>G (p.Ser1692Arg) c.5148C>G (p.Ser1716Arg) | |
| 3 | g.38551167G= | CA1358557510 | SCN5A | c.5202C= (p.Ser1734=) c.5205C= (p.Ser1735=) c.5151C= (p.Ser1717=) c.5043C= (p.Ser1681=) c.5106C= (p.Ser1702=) c.5076C= (p.Ser1692=) c.5148C= (p.Ser1716=) | |
| 3 | g.38551167G>T | CA352141962 | SCN5A | c.5202C>A (p.Ser1734Arg) c.5205C>A (p.Ser1735Arg) c.5151C>A (p.Ser1717Arg) c.5043C>A (p.Ser1681Arg) c.5106C>A (p.Ser1702Arg) c.5076C>A (p.Ser1692Arg) c.5148C>A (p.Ser1716Arg) | |
| 3 | g.38551168C>A | CA352141964 | SCN5A | c.5201G>T (p.Ser1734Ile) c.5204G>T (p.Ser1735Ile) c.5150G>T (p.Ser1717Ile) c.5042G>T (p.Ser1681Ile) c.5105G>T (p.Ser1702Ile) c.5075G>T (p.Ser1692Ile) c.5147G>T (p.Ser1716Ile) | |
| 3 | g.38551168C= | CA1358557513 | SCN5A | c.5201G= (p.Ser1734=) c.5204G= (p.Ser1735=) c.5150G= (p.Ser1717=) c.5042G= (p.Ser1681=) c.5105G= (p.Ser1702=) c.5075G= (p.Ser1692=) c.5147G= (p.Ser1716=) | |
| 3 | g.38551168C>G | CA352141966 | SCN5A | c.5201G>C (p.Ser1734Thr) c.5204G>C (p.Ser1735Thr) c.5150G>C (p.Ser1717Thr) c.5042G>C (p.Ser1681Thr) c.5105G>C (p.Ser1702Thr) c.5075G>C (p.Ser1692Thr) c.5147G>C (p.Ser1716Thr) | |
| 3 | g.38551168C>T | CA352141968 | SCN5A | c.5201G>A (p.Ser1734Asn) c.5204G>A (p.Ser1735Asn) c.5150G>A (p.Ser1717Asn) c.5042G>A (p.Ser1681Asn) c.5105G>A (p.Ser1702Asn) c.5075G>A (p.Ser1692Asn) c.5147G>A (p.Ser1716Asn) | dbSNP |
| 3 | g.38551169T>A | CA352141969 | SCN5A | c.5200A>T (p.Ser1734Cys) c.5203A>T (p.Ser1735Cys) c.5149A>T (p.Ser1717Cys) c.5041A>T (p.Ser1681Cys) c.5104A>T (p.Ser1702Cys) c.5074A>T (p.Ser1692Cys) c.5146A>T (p.Ser1716Cys) | |
| 3 | g.38551169T>C | CA352141971 | SCN5A | c.5200A>G (p.Ser1734Gly) c.5203A>G (p.Ser1735Gly) c.5149A>G (p.Ser1717Gly) c.5041A>G (p.Ser1681Gly) c.5104A>G (p.Ser1702Gly) c.5074A>G (p.Ser1692Gly) c.5146A>G (p.Ser1716Gly) | |
| 3 | g.38551169T>G | CA352141973 | SCN5A | c.5200A>C (p.Ser1734Arg) c.5203A>C (p.Ser1735Arg) c.5149A>C (p.Ser1717Arg) c.5041A>C (p.Ser1681Arg) c.5104A>C (p.Ser1702Arg) c.5074A>C (p.Ser1692Arg) c.5146A>C (p.Ser1716Arg) | |
| 3 | g.38551170G>A | CA018980 | SCN5A | c.5199C>T (p.Asn1733=) c.5202C>T (p.Asn1734=) c.5148C>T (p.Asn1716=) c.5040C>T (p.Asn1680=) c.5103C>T (p.Asn1701=) c.5073C>T (p.Asn1691=) c.5145C>T (p.Asn1715=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38551170G>C | CA352141976 | SCN5A | c.5199C>G (p.Asn1733Lys) c.5202C>G (p.Asn1734Lys) c.5148C>G (p.Asn1716Lys) c.5040C>G (p.Asn1680Lys) c.5103C>G (p.Asn1701Lys) c.5073C>G (p.Asn1691Lys) c.5145C>G (p.Asn1715Lys) | |
| 3 | g.38551170G= | CA1358557519 | SCN5A | c.5199C= (p.Asn1733=) c.5202C= (p.Asn1734=) c.5148C= (p.Asn1716=) c.5040C= (p.Asn1680=) c.5103C= (p.Asn1701=) c.5073C= (p.Asn1691=) c.5145C= (p.Asn1715=) | |
| 3 | g.38551170G>T | CA352141977 | SCN5A | c.5199C>A (p.Asn1733Lys) c.5202C>A (p.Asn1734Lys) c.5148C>A (p.Asn1716Lys) c.5040C>A (p.Asn1680Lys) c.5103C>A (p.Asn1701Lys) c.5073C>A (p.Asn1691Lys) c.5145C>A (p.Asn1715Lys) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38551171T>A | CA352141979 | SCN5A | c.5198A>T (p.Asn1733Ile) c.5201A>T (p.Asn1734Ile) c.5147A>T (p.Asn1716Ile) c.5039A>T (p.Asn1680Ile) c.5102A>T (p.Asn1701Ile) c.5072A>T (p.Asn1691Ile) c.5144A>T (p.Asn1715Ile) | |
| 3 | g.38551171T>C | CA352141983 | SCN5A | c.5198A>G (p.Asn1733Ser) c.5201A>G (p.Asn1734Ser) c.5147A>G (p.Asn1716Ser) c.5039A>G (p.Asn1680Ser) c.5102A>G (p.Asn1701Ser) c.5072A>G (p.Asn1691Ser) c.5144A>G (p.Asn1715Ser) | |
| 3 | g.38551171T>G | CA352141981 | SCN5A | c.5198A>C (p.Asn1733Thr) c.5201A>C (p.Asn1734Thr) c.5147A>C (p.Asn1716Thr) c.5039A>C (p.Asn1680Thr) c.5102A>C (p.Asn1701Thr) c.5072A>C (p.Asn1691Thr) c.5144A>C (p.Asn1715Thr) | |
| 3 | g.38551172T>A | CA352141985 | SCN5A | c.5197A>T (p.Asn1733Tyr) c.5200A>T (p.Asn1734Tyr) c.5146A>T (p.Asn1716Tyr) c.5038A>T (p.Asn1680Tyr) c.5101A>T (p.Asn1701Tyr) c.5071A>T (p.Asn1691Tyr) c.5143A>T (p.Asn1715Tyr) | |
| 3 | g.38551172T>C | CA352141987 | SCN5A | c.5197A>G (p.Asn1733Asp) c.5200A>G (p.Asn1734Asp) c.5146A>G (p.Asn1716Asp) c.5038A>G (p.Asn1680Asp) c.5101A>G (p.Asn1701Asp) c.5071A>G (p.Asn1691Asp) c.5143A>G (p.Asn1715Asp) | |
| 3 | g.38551172T>G | CA352141988 | SCN5A | c.5197A>C (p.Asn1733His) c.5200A>C (p.Asn1734His) c.5146A>C (p.Asn1716His) c.5038A>C (p.Asn1680His) c.5101A>C (p.Asn1701His) c.5071A>C (p.Asn1691His) c.5143A>C (p.Asn1715His) | |
| 3 | g.38551173G>A | CA433331809 | SCN5A | c.5196C>T (p.Pro1732=) c.5199C>T (p.Pro1733=) c.5145C>T (p.Pro1715=) c.5037C>T (p.Pro1679=) c.5100C>T (p.Pro1700=) c.5070C>T (p.Pro1690=) c.5142C>T (p.Pro1714=) | |
| 3 | g.38551173G>C | CA433331810 | SCN5A | c.5196C>G (p.Pro1732=) c.5199C>G (p.Pro1733=) c.5145C>G (p.Pro1715=) c.5037C>G (p.Pro1679=) c.5100C>G (p.Pro1700=) c.5070C>G (p.Pro1690=) c.5142C>G (p.Pro1714=) | |
| 3 | g.38551173G>T | CA433331808 | SCN5A | c.5196C>A (p.Pro1732=) c.5199C>A (p.Pro1733=) c.5145C>A (p.Pro1715=) c.5037C>A (p.Pro1679=) c.5100C>A (p.Pro1700=) c.5070C>A (p.Pro1690=) c.5142C>A (p.Pro1714=) | |
| 3 | g.38551174G>A | CA352141989 | SCN5A | c.5195C>T (p.Pro1732Leu) c.5198C>T (p.Pro1733Leu) c.5144C>T (p.Pro1715Leu) c.5036C>T (p.Pro1679Leu) c.5099C>T (p.Pro1700Leu) c.5069C>T (p.Pro1690Leu) c.5141C>T (p.Pro1714Leu) | ClinVar |
| 3 | g.38551174G>C | CA352141990 | SCN5A | c.5195C>G (p.Pro1732Arg) c.5198C>G (p.Pro1733Arg) c.5144C>G (p.Pro1715Arg) c.5036C>G (p.Pro1679Arg) c.5099C>G (p.Pro1700Arg) c.5069C>G (p.Pro1690Arg) c.5141C>G (p.Pro1714Arg) | |
| 3 | g.38551174G>T | CA352141992 | SCN5A | c.5195C>A (p.Pro1732His) c.5198C>A (p.Pro1733His) c.5144C>A (p.Pro1715His) c.5036C>A (p.Pro1679His) c.5099C>A (p.Pro1700His) c.5069C>A (p.Pro1690His) c.5141C>A (p.Pro1714His) | |
| 3 | g.38551175G>A | CA352141994 | SCN5A | c.5194C>T (p.Pro1732Ser) c.5197C>T (p.Pro1733Ser) c.5143C>T (p.Pro1715Ser) c.5035C>T (p.Pro1679Ser) c.5098C>T (p.Pro1700Ser) c.5068C>T (p.Pro1690Ser) c.5140C>T (p.Pro1714Ser) | gnomAD v4 |
| 3 | g.38551175G>C | CA352141996 | SCN5A | c.5194C>G (p.Pro1732Ala) c.5197C>G (p.Pro1733Ala) c.5143C>G (p.Pro1715Ala) c.5035C>G (p.Pro1679Ala) c.5098C>G (p.Pro1700Ala) c.5068C>G (p.Pro1690Ala) c.5140C>G (p.Pro1714Ala) | |
| 3 | g.38551175G= | CA1358557525 | SCN5A | c.5194C= (p.Pro1732=) c.5197C= (p.Pro1733=) c.5143C= (p.Pro1715=) c.5035C= (p.Pro1679=) c.5098C= (p.Pro1700=) c.5068C= (p.Pro1690=) c.5140C= (p.Pro1714=) | |
| 3 | g.38551175G>T | CA352141998 | SCN5A | c.5194C>A (p.Pro1732Thr) c.5197C>A (p.Pro1733Thr) c.5143C>A (p.Pro1715Thr) c.5035C>A (p.Pro1679Thr) c.5098C>A (p.Pro1700Thr) c.5068C>A (p.Pro1690Thr) c.5140C>A (p.Pro1714Thr) | dbSNP |
| 3 | g.38551176C>A | CA433331815 | SCN5A | c.5193G>T (p.Leu1731=) c.5196G>T (p.Leu1732=) c.5142G>T (p.Leu1714=) c.5034G>T (p.Leu1678=) c.5097G>T (p.Leu1699=) c.5067G>T (p.Leu1689=) c.5139G>T (p.Leu1713=) | |
| 3 | g.38551176C>G | CA433331816 | SCN5A | c.5193G>C (p.Leu1731=) c.5196G>C (p.Leu1732=) c.5142G>C (p.Leu1714=) c.5034G>C (p.Leu1678=) c.5097G>C (p.Leu1699=) c.5067G>C (p.Leu1689=) c.5139G>C (p.Leu1713=) | |
| 3 | g.38551176C>T | CA433331818 | SCN5A | c.5193G>A (p.Leu1731=) c.5196G>A (p.Leu1732=) c.5142G>A (p.Leu1714=) c.5034G>A (p.Leu1678=) c.5097G>A (p.Leu1699=) c.5067G>A (p.Leu1689=) c.5139G>A (p.Leu1713=) | |
| 3 | g.38551177A>C | CA352142003 | SCN5A | c.5192T>G (p.Leu1731Arg) c.5195T>G (p.Leu1732Arg) c.5141T>G (p.Leu1714Arg) c.5033T>G (p.Leu1678Arg) c.5096T>G (p.Leu1699Arg) c.5066T>G (p.Leu1689Arg) c.5138T>G (p.Leu1713Arg) | |
| 3 | g.38551177A>G | CA352142001 | SCN5A | c.5192T>C (p.Leu1731Pro) c.5195T>C (p.Leu1732Pro) c.5141T>C (p.Leu1714Pro) c.5033T>C (p.Leu1678Pro) c.5096T>C (p.Leu1699Pro) c.5066T>C (p.Leu1689Pro) c.5138T>C (p.Leu1713Pro) | gnomAD v4 |
| 3 | g.38551177A>T | CA352142000 | SCN5A | c.5192T>A (p.Leu1731Gln) c.5195T>A (p.Leu1732Gln) c.5141T>A (p.Leu1714Gln) c.5033T>A (p.Leu1678Gln) c.5096T>A (p.Leu1699Gln) c.5066T>A (p.Leu1689Gln) c.5138T>A (p.Leu1713Gln) | |
| 3 | g.38551178G>A | CA433331823 | SCN5A | c.5191C>T (p.Leu1731=) c.5194C>T (p.Leu1732=) c.5140C>T (p.Leu1714=) c.5032C>T (p.Leu1678=) c.5095C>T (p.Leu1699=) c.5065C>T (p.Leu1689=) c.5137C>T (p.Leu1713=) | dbSNP |
| 3 | g.38551178G>C | CA352142005 | SCN5A | c.5191C>G (p.Leu1731Val) c.5194C>G (p.Leu1732Val) c.5140C>G (p.Leu1714Val) c.5032C>G (p.Leu1678Val) c.5095C>G (p.Leu1699Val) c.5065C>G (p.Leu1689Val) c.5137C>G (p.Leu1713Val) | |
| 3 | g.38551178G= | CA1358557527 | SCN5A | c.5191C= (p.Leu1731=) c.5194C= (p.Leu1732=) c.5140C= (p.Leu1714=) c.5032C= (p.Leu1678=) c.5095C= (p.Leu1699=) c.5065C= (p.Leu1689=) c.5137C= (p.Leu1713=) | |
| 3 | g.38551178G>T | CA352142006 | SCN5A | c.5191C>A (p.Leu1731Met) c.5194C>A (p.Leu1732Met) c.5140C>A (p.Leu1714Met) c.5032C>A (p.Leu1678Met) c.5095C>A (p.Leu1699Met) c.5065C>A (p.Leu1689Met) c.5137C>A (p.Leu1713Met) | |
| 3 | g.38551179del | CA2524197809 | SCN5A | c.5190del (p.Leu1731CysfsTer?) c.5193del (p.Leu1732CysfsTer?) c.5139del (p.Leu1714CysfsTer?) c.5031del (p.Leu1678CysfsTer?) c.5094del (p.Leu1699CysfsTer?) c.5064del (p.Leu1689CysfsTer?) c.5136del (p.Leu1713CysfsTer?) | |
| 3 | g.38551179A>C | CA433331824 | SCN5A | c.5190T>G (p.Thr1730=) c.5193T>G (p.Thr1731=) c.5139T>G (p.Thr1713=) c.5031T>G (p.Thr1677=) c.5094T>G (p.Thr1698=) c.5064T>G (p.Thr1688=) c.5136T>G (p.Thr1712=) | |
| 3 | g.38551179A>G | CA433331826 | SCN5A | c.5190T>C (p.Thr1730=) c.5193T>C (p.Thr1731=) c.5139T>C (p.Thr1713=) c.5031T>C (p.Thr1677=) c.5094T>C (p.Thr1698=) c.5064T>C (p.Thr1688=) c.5136T>C (p.Thr1712=) | gnomAD v3 gnomAD v4 |
| 3 | g.38551179A>T | CA433331828 | SCN5A | c.5190T>A (p.Thr1730=) c.5193T>A (p.Thr1731=) c.5139T>A (p.Thr1713=) c.5031T>A (p.Thr1677=) c.5094T>A (p.Thr1698=) c.5064T>A (p.Thr1688=) c.5136T>A (p.Thr1712=) | |
| 3 | g.38551180G>A | CA352142008 | SCN5A | c.5189C>T (p.Thr1730Ile) c.5192C>T (p.Thr1731Ile) c.5138C>T (p.Thr1713Ile) c.5030C>T (p.Thr1677Ile) c.5093C>T (p.Thr1698Ile) c.5063C>T (p.Thr1688Ile) c.5135C>T (p.Thr1712Ile) | |
| 3 | g.38551180G>C | CA352142010 | SCN5A | c.5189C>G (p.Thr1730Ser) c.5192C>G (p.Thr1731Ser) c.5138C>G (p.Thr1713Ser) c.5030C>G (p.Thr1677Ser) c.5093C>G (p.Thr1698Ser) c.5063C>G (p.Thr1688Ser) c.5135C>G (p.Thr1712Ser) | |
| 3 | g.38551180G= | CA1358557530 | SCN5A | c.5189C= (p.Thr1730=) c.5192C= (p.Thr1731=) c.5138C= (p.Thr1713=) c.5030C= (p.Thr1677=) c.5093C= (p.Thr1698=) c.5063C= (p.Thr1688=) c.5135C= (p.Thr1712=) | |
| 3 | g.38551180G>T | CA352142011 | SCN5A | c.5189C>A (p.Thr1730Asn) c.5192C>A (p.Thr1731Asn) c.5138C>A (p.Thr1713Asn) c.5030C>A (p.Thr1677Asn) c.5093C>A (p.Thr1698Asn) c.5063C>A (p.Thr1688Asn) c.5135C>A (p.Thr1712Asn) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38551181del | CA433331833 | SCN5A | c.5188del (p.Thr1730LeufsTer?) c.5191del (p.Thr1731LeufsTer?) c.5137del (p.Thr1713LeufsTer?) c.5029del (p.Thr1677LeufsTer?) c.5092del (p.Thr1698LeufsTer?) c.5062del (p.Thr1688LeufsTer?) c.5134del (p.Thr1712LeufsTer?) | COSMIC COSMIC COSMIC |
| 3 | g.38551181T>A | CA352142014 | SCN5A | c.5188A>T (p.Thr1730Ser) c.5191A>T (p.Thr1731Ser) c.5137A>T (p.Thr1713Ser) c.5029A>T (p.Thr1677Ser) c.5092A>T (p.Thr1698Ser) c.5062A>T (p.Thr1688Ser) c.5134A>T (p.Thr1712Ser) | |
| 3 | g.38551181T>C | CA352142015 | SCN5A | c.5188A>G (p.Thr1730Ala) c.5191A>G (p.Thr1731Ala) c.5137A>G (p.Thr1713Ala) c.5029A>G (p.Thr1677Ala) c.5092A>G (p.Thr1698Ala) c.5062A>G (p.Thr1688Ala) c.5134A>G (p.Thr1712Ala) | |
| 3 | g.38551181T>G | CA352142017 | SCN5A | c.5188A>C (p.Thr1730Pro) c.5191A>C (p.Thr1731Pro) c.5137A>C (p.Thr1713Pro) c.5029A>C (p.Thr1677Pro) c.5092A>C (p.Thr1698Pro) c.5062A>C (p.Thr1688Pro) c.5134A>C (p.Thr1712Pro) | ClinVar dbSNP |
| 3 | g.38551181T= | CA1358557536 | SCN5A | c.5188A= (p.Thr1730=) c.5191A= (p.Thr1731=) c.5137A= (p.Thr1713=) c.5029A= (p.Thr1677=) c.5092A= (p.Thr1698=) c.5062A= (p.Thr1688=) c.5134A= (p.Thr1712=) | |
| 3 | g.38551181_38551182delinsTG | CA1358557535 | SCN5A | c.5187_5188delinsCA (p.Pro1729=) c.5190_5191delinsCA (p.Pro1730=) c.5136_5137delinsCA (p.Pro1712=) c.5028_5029delinsCA (p.Pro1676=) c.5091_5092delinsCA (p.Pro1697=) c.5061_5062delinsCA (p.Pro1687=) c.5133_5134delinsCA (p.Pro1711=) | |
| 3 | g.38551182G>A | CA72938070 | SCN5A | c.5187C>T (p.Pro1729=) c.5190C>T (p.Pro1730=) c.5136C>T (p.Pro1712=) c.5028C>T (p.Pro1676=) c.5091C>T (p.Pro1697=) c.5061C>T (p.Pro1687=) c.5133C>T (p.Pro1711=) | dbSNP gnomAD v4 |
| 3 | g.38551182G>C | CA433331837 | SCN5A | c.5187C>G (p.Pro1729=) c.5190C>G (p.Pro1730=) c.5136C>G (p.Pro1712=) c.5028C>G (p.Pro1676=) c.5091C>G (p.Pro1697=) c.5061C>G (p.Pro1687=) c.5133C>G (p.Pro1711=) | |
| 3 | g.38551182G= | CA1358557543 | SCN5A | c.5187C= (p.Pro1729=) c.5190C= (p.Pro1730=) c.5136C= (p.Pro1712=) c.5028C= (p.Pro1676=) c.5091C= (p.Pro1697=) c.5061C= (p.Pro1687=) c.5133C= (p.Pro1711=) | |
| 3 | g.38551182G>T | CA433331840 | SCN5A | c.5187C>A (p.Pro1729=) c.5190C>A (p.Pro1730=) c.5136C>A (p.Pro1712=) c.5028C>A (p.Pro1676=) c.5091C>A (p.Pro1697=) c.5061C>A (p.Pro1687=) c.5133C>A (p.Pro1711=) | |
| 3 | g.38551185del | CA645294025 | SCN5A | c.5187del (p.Thr1730LeufsTer?) c.5190del (p.Thr1731LeufsTer?) c.5136del (p.Thr1713LeufsTer?) c.5028del (p.Thr1677LeufsTer?) c.5091del (p.Thr1698LeufsTer?) c.5061del (p.Thr1688LeufsTer?) c.5133del (p.Thr1712LeufsTer?) | ClinVar dbSNP |
| 3 | g.38551182_38551183insA | CA2523632947 | SCN5A | c.5186_5187insT (p.Thr1730HisfsTer?) c.5189_5190insT (p.Thr1731HisfsTer?) c.5135_5136insT (p.Thr1713HisfsTer?) c.5027_5028insT (p.Thr1677HisfsTer?) c.5090_5091insT (p.Thr1698HisfsTer?) c.5060_5061insT (p.Thr1688HisfsTer?) c.5132_5133insT (p.Thr1712HisfsTer?) | |
| 3 | g.38551183G>A | CA064211 | SCN5A | c.5186C>T (p.Pro1729Leu) c.5189C>T (p.Pro1730Leu) c.5135C>T (p.Pro1712Leu) c.5027C>T (p.Pro1676Leu) c.5090C>T (p.Pro1697Leu) c.5060C>T (p.Pro1687Leu) c.5132C>T (p.Pro1711Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38551183G>C | CA352142021 | SCN5A | c.5186C>G (p.Pro1729Arg) c.5189C>G (p.Pro1730Arg) c.5135C>G (p.Pro1712Arg) c.5027C>G (p.Pro1676Arg) c.5090C>G (p.Pro1697Arg) c.5060C>G (p.Pro1687Arg) c.5132C>G (p.Pro1711Arg) | |
| 3 | g.38551183G= | CA1358557551 | SCN5A | c.5186C= (p.Pro1729=) c.5189C= (p.Pro1730=) c.5135C= (p.Pro1712=) c.5027C= (p.Pro1676=) c.5090C= (p.Pro1697=) c.5060C= (p.Pro1687=) c.5132C= (p.Pro1711=) | |
| 3 | g.38551183G>T | CA352142022 | SCN5A | c.5186C>A (p.Pro1729His) c.5189C>A (p.Pro1730His) c.5135C>A (p.Pro1712His) c.5027C>A (p.Pro1676His) c.5090C>A (p.Pro1697His) c.5060C>A (p.Pro1687His) c.5132C>A (p.Pro1711His) | |
| 3 | g.38551184G>A | CA352142027 | SCN5A | c.5185C>T (p.Pro1729Ser) c.5188C>T (p.Pro1730Ser) c.5134C>T (p.Pro1712Ser) c.5026C>T (p.Pro1676Ser) c.5089C>T (p.Pro1697Ser) c.5059C>T (p.Pro1687Ser) c.5131C>T (p.Pro1711Ser) | |
| 3 | g.38551184G>C | CA064206 | SCN5A | c.5185C>G (p.Pro1729Ala) c.5188C>G (p.Pro1730Ala) c.5134C>G (p.Pro1712Ala) c.5026C>G (p.Pro1676Ala) c.5089C>G (p.Pro1697Ala) c.5059C>G (p.Pro1687Ala) c.5131C>G (p.Pro1711Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38551184G= | CA1358557553 | SCN5A | c.5185C= (p.Pro1729=) c.5188C= (p.Pro1730=) c.5134C= (p.Pro1712=) c.5026C= (p.Pro1676=) c.5089C= (p.Pro1697=) c.5059C= (p.Pro1687=) c.5131C= (p.Pro1711=) | |
| 3 | g.38551184G>T | CA352142025 | SCN5A | c.5185C>A (p.Pro1729Thr) c.5188C>A (p.Pro1730Thr) c.5134C>A (p.Pro1712Thr) c.5026C>A (p.Pro1676Thr) c.5089C>A (p.Pro1697Thr) c.5059C>A (p.Pro1687Thr) c.5131C>A (p.Pro1711Thr) | |
| 3 | g.38551185G>A | CA433331848 | SCN5A | c.5184C>T (p.Asp1728=) c.5187C>T (p.Asp1729=) c.5133C>T (p.Asp1711=) c.5025C>T (p.Asp1675=) c.5088C>T (p.Asp1696=) c.5058C>T (p.Asp1686=) c.5130C>T (p.Asp1710=) | gnomAD v4 |
| 3 | g.38551185G>C | CA352142029 | SCN5A | c.5184C>G (p.Asp1728Glu) c.5187C>G (p.Asp1729Glu) c.5133C>G (p.Asp1711Glu) c.5025C>G (p.Asp1675Glu) c.5088C>G (p.Asp1696Glu) c.5058C>G (p.Asp1686Glu) c.5130C>G (p.Asp1710Glu) | |
| 3 | g.38551185G= | CA1358557556 | SCN5A | c.5184C= (p.Asp1728=) c.5187C= (p.Asp1729=) c.5133C= (p.Asp1711=) c.5025C= (p.Asp1675=) c.5088C= (p.Asp1696=) c.5058C= (p.Asp1686=) c.5130C= (p.Asp1710=) | |
| 3 | g.38551185G>T | CA352142031 | SCN5A | c.5184C>A (p.Asp1728Glu) c.5187C>A (p.Asp1729Glu) c.5133C>A (p.Asp1711Glu) c.5025C>A (p.Asp1675Glu) c.5088C>A (p.Asp1696Glu) c.5058C>A (p.Asp1686Glu) c.5130C>A (p.Asp1710Glu) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38551186T>A | CA352142033 | SCN5A | c.5183A>T (p.Asp1728Val) c.5186A>T (p.Asp1729Val) c.5132A>T (p.Asp1711Val) c.5024A>T (p.Asp1675Val) c.5087A>T (p.Asp1696Val) c.5057A>T (p.Asp1686Val) c.5129A>T (p.Asp1710Val) | |
| 3 | g.38551186T>C | CA352142035 | SCN5A | c.5183A>G (p.Asp1728Gly) c.5186A>G (p.Asp1729Gly) c.5132A>G (p.Asp1711Gly) c.5024A>G (p.Asp1675Gly) c.5087A>G (p.Asp1696Gly) c.5057A>G (p.Asp1686Gly) c.5129A>G (p.Asp1710Gly) | |
| 3 | g.38551186T>G | CA352142036 | SCN5A | c.5183A>C (p.Asp1728Ala) c.5186A>C (p.Asp1729Ala) c.5132A>C (p.Asp1711Ala) c.5024A>C (p.Asp1675Ala) c.5087A>C (p.Asp1696Ala) c.5057A>C (p.Asp1686Ala) c.5129A>C (p.Asp1710Ala) | dbSNP |
| 3 | g.38551186T= | CA1358557558 | SCN5A | c.5183A= (p.Asp1728=) c.5186A= (p.Asp1729=) c.5132A= (p.Asp1711=) c.5024A= (p.Asp1675=) c.5087A= (p.Asp1696=) c.5057A= (p.Asp1686=) c.5129A= (p.Asp1710=) | |
| 3 | g.38551187C>A | CA352142038 | SCN5A | c.5182G>T (p.Asp1728Tyr) c.5185G>T (p.Asp1729Tyr) c.5131G>T (p.Asp1711Tyr) c.5023G>T (p.Asp1675Tyr) c.5086G>T (p.Asp1696Tyr) c.5056G>T (p.Asp1686Tyr) c.5128G>T (p.Asp1710Tyr) | |
| 3 | g.38551187C= | CA1358557563 | SCN5A | c.5182G= (p.Asp1728=) c.5185G= (p.Asp1729=) c.5131G= (p.Asp1711=) c.5023G= (p.Asp1675=) c.5086G= (p.Asp1696=) c.5056G= (p.Asp1686=) c.5128G= (p.Asp1710=) | |
| 3 | g.38551187C>G | CA352142039 | SCN5A | c.5182G>C (p.Asp1728His) c.5185G>C (p.Asp1729His) c.5131G>C (p.Asp1711His) c.5023G>C (p.Asp1675His) c.5086G>C (p.Asp1696His) c.5056G>C (p.Asp1686His) c.5128G>C (p.Asp1710His) | |
| 3 | g.38551187C>T | CA018973 | SCN5A | c.5182G>A (p.Asp1728Asn) c.5185G>A (p.Asp1729Asn) c.5131G>A (p.Asp1711Asn) c.5023G>A (p.Asp1675Asn) c.5086G>A (p.Asp1696Asn) c.5056G>A (p.Asp1686Asn) c.5128G>A (p.Asp1710Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.38551188G>A | CA018968 | SCN5A | c.5181C>T (p.Cys1727=) c.5184C>T (p.Cys1728=) c.5130C>T (p.Cys1710=) c.5022C>T (p.Cys1674=) c.5085C>T (p.Cys1695=) c.5055C>T (p.Cys1685=) c.5127C>T (p.Cys1709=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38551188G>C | CA018961 | SCN5A | c.5181C>G (p.Cys1727Trp) c.5184C>G (p.Cys1728Trp) c.5130C>G (p.Cys1710Trp) c.5022C>G (p.Cys1674Trp) c.5085C>G (p.Cys1695Trp) c.5055C>G (p.Cys1685Trp) c.5127C>G (p.Cys1709Trp) | ClinVar dbSNP |
| 3 | g.38551188G= | CA1358557570 | SCN5A | c.5181C= (p.Cys1727=) c.5184C= (p.Cys1728=) c.5130C= (p.Cys1710=) c.5022C= (p.Cys1674=) c.5085C= (p.Cys1695=) c.5055C= (p.Cys1685=) c.5127C= (p.Cys1709=) | |
| 3 | g.38551188G>T | CA352142044 | SCN5A | c.5181C>A (p.Cys1727Ter) c.5184C>A (p.Cys1728Ter) c.5130C>A (p.Cys1710Ter) c.5022C>A (p.Cys1674Ter) c.5085C>A (p.Cys1695Ter) c.5055C>A (p.Cys1685Ter) c.5127C>A (p.Cys1709Ter) | gnomAD v4 |
| 3 | g.38551189C>A | CA352142049 | SCN5A | c.5180G>T (p.Cys1727Phe) c.5183G>T (p.Cys1728Phe) c.5129G>T (p.Cys1710Phe) c.5021G>T (p.Cys1674Phe) c.5084G>T (p.Cys1695Phe) c.5054G>T (p.Cys1685Phe) c.5126G>T (p.Cys1709Phe) | |
| 3 | g.38551189C>G | CA352142051 | SCN5A | c.5180G>C (p.Cys1727Ser) c.5183G>C (p.Cys1728Ser) c.5129G>C (p.Cys1710Ser) c.5021G>C (p.Cys1674Ser) c.5084G>C (p.Cys1695Ser) c.5054G>C (p.Cys1685Ser) c.5126G>C (p.Cys1709Ser) | |
| 3 | g.38551189C>T | CA352142047 | SCN5A | c.5180G>A (p.Cys1727Tyr) c.5183G>A (p.Cys1728Tyr) c.5129G>A (p.Cys1710Tyr) c.5021G>A (p.Cys1674Tyr) c.5084G>A (p.Cys1695Tyr) c.5054G>A (p.Cys1685Tyr) c.5126G>A (p.Cys1709Tyr) | |
| 3 | g.38551190A= | CA1358557577 | SCN5A | c.5179T= (p.Cys1727=) c.5182T= (p.Cys1728=) c.5128T= (p.Cys1710=) c.5020T= (p.Cys1674=) c.5083T= (p.Cys1695=) c.5053T= (p.Cys1685=) c.5125T= (p.Cys1709=) | |
| 3 | g.38551190A>C | CA352142055 | SCN5A | c.5179T>G (p.Cys1727Gly) c.5182T>G (p.Cys1728Gly) c.5128T>G (p.Cys1710Gly) c.5020T>G (p.Cys1674Gly) c.5083T>G (p.Cys1695Gly) c.5053T>G (p.Cys1685Gly) c.5125T>G (p.Cys1709Gly) | |
| 3 | g.38551190A>G | CA018958 | SCN5A | c.5179T>C (p.Cys1727Arg) c.5182T>C (p.Cys1728Arg) c.5128T>C (p.Cys1710Arg) c.5020T>C (p.Cys1674Arg) c.5083T>C (p.Cys1695Arg) c.5053T>C (p.Cys1685Arg) c.5125T>C (p.Cys1709Arg) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38551190A>T | CA352142053 | SCN5A | c.5179T>A (p.Cys1727Ser) c.5182T>A (p.Cys1728Ser) c.5128T>A (p.Cys1710Ser) c.5020T>A (p.Cys1674Ser) c.5083T>A (p.Cys1695Ser) c.5053T>A (p.Cys1685Ser) c.5125T>A (p.Cys1709Ser) | |
| 3 | g.38551191G>A | CA433331861 | SCN5A | c.5178C>T (p.Tyr1726=) c.5181C>T (p.Tyr1727=) c.5127C>T (p.Tyr1709=) c.5019C>T (p.Tyr1673=) c.5082C>T (p.Tyr1694=) c.5052C>T (p.Tyr1684=) c.5124C>T (p.Tyr1708=) | gnomAD v4 |
| 3 | g.38551191G>C | CA352142056 | SCN5A | c.5178C>G (p.Tyr1726Ter) c.5181C>G (p.Tyr1727Ter) c.5127C>G (p.Tyr1709Ter) c.5019C>G (p.Tyr1673Ter) c.5082C>G (p.Tyr1694Ter) c.5052C>G (p.Tyr1684Ter) c.5124C>G (p.Tyr1708Ter) | |
| 3 | g.38551191G>T | CA352142057 | SCN5A | c.5178C>A (p.Tyr1726Ter) c.5181C>A (p.Tyr1727Ter) c.5127C>A (p.Tyr1709Ter) c.5019C>A (p.Tyr1673Ter) c.5082C>A (p.Tyr1694Ter) c.5052C>A (p.Tyr1684Ter) c.5124C>A (p.Tyr1708Ter) | |
| 3 | g.38551192T>A | CA352142058 | SCN5A | c.5177A>T (p.Tyr1726Phe) c.5180A>T (p.Tyr1727Phe) c.5126A>T (p.Tyr1709Phe) c.5018A>T (p.Tyr1673Phe) c.5081A>T (p.Tyr1694Phe) c.5051A>T (p.Tyr1684Phe) c.5123A>T (p.Tyr1708Phe) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38551192T>C | CA352142059 | SCN5A | c.5177A>G (p.Tyr1726Cys) c.5180A>G (p.Tyr1727Cys) c.5126A>G (p.Tyr1709Cys) c.5018A>G (p.Tyr1673Cys) c.5081A>G (p.Tyr1694Cys) c.5051A>G (p.Tyr1684Cys) c.5123A>G (p.Tyr1708Cys) | COSMIC COSMIC COSMIC |
| 3 | g.38551192T>G | CA352142061 | SCN5A | c.5177A>C (p.Tyr1726Ser) c.5180A>C (p.Tyr1727Ser) c.5126A>C (p.Tyr1709Ser) c.5018A>C (p.Tyr1673Ser) c.5081A>C (p.Tyr1694Ser) c.5051A>C (p.Tyr1684Ser) c.5123A>C (p.Tyr1708Ser) | |
| 3 | g.38551193A>C | CA352142063 | SCN5A | c.5176T>G (p.Tyr1726Asp) c.5179T>G (p.Tyr1727Asp) c.5125T>G (p.Tyr1709Asp) c.5017T>G (p.Tyr1673Asp) c.5080T>G (p.Tyr1694Asp) c.5050T>G (p.Tyr1684Asp) c.5122T>G (p.Tyr1708Asp) | |
| 3 | g.38551193A>G | CA352142064 | SCN5A | c.5176T>C (p.Tyr1726His) c.5179T>C (p.Tyr1727His) c.5125T>C (p.Tyr1709His) c.5017T>C (p.Tyr1673His) c.5080T>C (p.Tyr1694His) c.5050T>C (p.Tyr1684His) c.5122T>C (p.Tyr1708His) | |
| 3 | g.38551193A>T | CA352142066 | SCN5A | c.5176T>A (p.Tyr1726Asn) c.5179T>A (p.Tyr1727Asn) c.5125T>A (p.Tyr1709Asn) c.5017T>A (p.Tyr1673Asn) c.5080T>A (p.Tyr1694Asn) c.5050T>A (p.Tyr1684Asn) c.5122T>A (p.Tyr1708Asn) | |
| 3 | g.38551194G>A | CA433331872 | SCN5A | c.5175C>T (p.Pro1725=) c.5178C>T (p.Pro1726=) c.5124C>T (p.Pro1708=) c.5016C>T (p.Pro1672=) c.5079C>T (p.Pro1693=) c.5049C>T (p.Pro1683=) c.5121C>T (p.Pro1707=) | |
| 3 | g.38551194G>C | CA433331871 | SCN5A | c.5175C>G (p.Pro1725=) c.5178C>G (p.Pro1726=) c.5124C>G (p.Pro1708=) c.5016C>G (p.Pro1672=) c.5079C>G (p.Pro1693=) c.5049C>G (p.Pro1683=) c.5121C>G (p.Pro1707=) | |
| 3 | g.38551194G>T | CA433331870 | SCN5A | c.5175C>A (p.Pro1725=) c.5178C>A (p.Pro1726=) c.5124C>A (p.Pro1708=) c.5016C>A (p.Pro1672=) c.5079C>A (p.Pro1693=) c.5049C>A (p.Pro1683=) c.5121C>A (p.Pro1707=) | |
| 3 | g.38551195G>A | CA352142068 | SCN5A | c.5174C>T (p.Pro1725Leu) c.5177C>T (p.Pro1726Leu) c.5123C>T (p.Pro1708Leu) c.5015C>T (p.Pro1672Leu) c.5078C>T (p.Pro1693Leu) c.5048C>T (p.Pro1683Leu) c.5120C>T (p.Pro1707Leu) | |
| 3 | g.38551195G>C | CA352142069 | SCN5A | c.5174C>G (p.Pro1725Arg) c.5177C>G (p.Pro1726Arg) c.5123C>G (p.Pro1708Arg) c.5015C>G (p.Pro1672Arg) c.5078C>G (p.Pro1693Arg) c.5048C>G (p.Pro1683Arg) c.5120C>G (p.Pro1707Arg) | |
| 3 | g.38551195G>T | CA352142071 | SCN5A | c.5174C>A (p.Pro1725His) c.5177C>A (p.Pro1726His) c.5123C>A (p.Pro1708His) c.5015C>A (p.Pro1672His) c.5078C>A (p.Pro1693His) c.5048C>A (p.Pro1683His) c.5120C>A (p.Pro1707His) | |
| 3 | g.38551196G>A | CA352142074 | SCN5A | c.5173C>T (p.Pro1725Ser) c.5176C>T (p.Pro1726Ser) c.5122C>T (p.Pro1708Ser) c.5014C>T (p.Pro1672Ser) c.5077C>T (p.Pro1693Ser) c.5047C>T (p.Pro1683Ser) c.5119C>T (p.Pro1707Ser) | ClinVar dbSNP |
| 3 | g.38551196G>C | CA352142077 | SCN5A | c.5173C>G (p.Pro1725Ala) c.5176C>G (p.Pro1726Ala) c.5122C>G (p.Pro1708Ala) c.5014C>G (p.Pro1672Ala) c.5077C>G (p.Pro1693Ala) c.5047C>G (p.Pro1683Ala) c.5119C>G (p.Pro1707Ala) | |
| 3 | g.38551196G>T | CA352142075 | SCN5A | c.5173C>A (p.Pro1725Thr) c.5176C>A (p.Pro1726Thr) c.5122C>A (p.Pro1708Thr) c.5014C>A (p.Pro1672Thr) c.5077C>A (p.Pro1693Thr) c.5047C>A (p.Pro1683Thr) c.5119C>A (p.Pro1707Thr) | ClinVar |
| 3 | g.38551197C>A | CA433331881 | SCN5A | c.5172G>T (p.Pro1724=) c.5175G>T (p.Pro1725=) c.5121G>T (p.Pro1707=) c.5013G>T (p.Pro1671=) c.5076G>T (p.Pro1692=) c.5046G>T (p.Pro1682=) c.5118G>T (p.Pro1706=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38551197C= | CA1358557586 | SCN5A | c.5172G= (p.Pro1724=) c.5175G= (p.Pro1725=) c.5121G= (p.Pro1707=) c.5013G= (p.Pro1671=) c.5076G= (p.Pro1692=) c.5046G= (p.Pro1682=) c.5118G= (p.Pro1706=) | |
| 3 | g.38551197C>G | CA433331879 | SCN5A | c.5172G>C (p.Pro1724=) c.5175G>C (p.Pro1725=) c.5121G>C (p.Pro1707=) c.5013G>C (p.Pro1671=) c.5076G>C (p.Pro1692=) c.5046G>C (p.Pro1682=) c.5118G>C (p.Pro1706=) | ClinVar gnomAD v4 |
| 3 | g.38551197C>T | CA064190 | SCN5A | c.5172G>A (p.Pro1724=) c.5175G>A (p.Pro1725=) c.5121G>A (p.Pro1707=) c.5013G>A (p.Pro1671=) c.5076G>A (p.Pro1692=) c.5046G>A (p.Pro1682=) c.5118G>A (p.Pro1706=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38551198G>A | CA018953 | SCN5A | c.5171C>T (p.Pro1724Leu) c.5174C>T (p.Pro1725Leu) c.5120C>T (p.Pro1707Leu) c.5012C>T (p.Pro1671Leu) c.5075C>T (p.Pro1692Leu) c.5045C>T (p.Pro1682Leu) c.5117C>T (p.Pro1706Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38551198G>C | CA352142082 | SCN5A | c.5171C>G (p.Pro1724Arg) c.5174C>G (p.Pro1725Arg) c.5120C>G (p.Pro1707Arg) c.5012C>G (p.Pro1671Arg) c.5075C>G (p.Pro1692Arg) c.5045C>G (p.Pro1682Arg) c.5117C>G (p.Pro1706Arg) | |
| 3 | g.38551198G= | CA1358557594 | SCN5A | c.5171C= (p.Pro1724=) c.5174C= (p.Pro1725=) c.5120C= (p.Pro1707=) c.5012C= (p.Pro1671=) c.5075C= (p.Pro1692=) c.5045C= (p.Pro1682=) c.5117C= (p.Pro1706=) | |
| 3 | g.38551198G>T | CA352142084 | SCN5A | c.5171C>A (p.Pro1724Gln) c.5174C>A (p.Pro1725Gln) c.5120C>A (p.Pro1707Gln) c.5012C>A (p.Pro1671Gln) c.5075C>A (p.Pro1692Gln) c.5045C>A (p.Pro1682Gln) c.5117C>A (p.Pro1706Gln) | |
| 3 | g.38551199G>A | CA352142086 | SCN5A | c.5170C>T (p.Pro1724Ser) c.5173C>T (p.Pro1725Ser) c.5119C>T (p.Pro1707Ser) c.5011C>T (p.Pro1671Ser) c.5074C>T (p.Pro1692Ser) c.5044C>T (p.Pro1682Ser) c.5116C>T (p.Pro1706Ser) | |
| 3 | g.38551199G>C | CA352142087 | SCN5A | c.5170C>G (p.Pro1724Ala) c.5173C>G (p.Pro1725Ala) c.5119C>G (p.Pro1707Ala) c.5011C>G (p.Pro1671Ala) c.5074C>G (p.Pro1692Ala) c.5044C>G (p.Pro1682Ala) c.5116C>G (p.Pro1706Ala) | |
| 3 | g.38551199G>T | CA352142089 | SCN5A | c.5170C>A (p.Pro1724Thr) c.5173C>A (p.Pro1725Thr) c.5119C>A (p.Pro1707Thr) c.5011C>A (p.Pro1671Thr) c.5074C>A (p.Pro1692Thr) c.5044C>A (p.Pro1682Thr) c.5116C>A (p.Pro1706Thr) | COSMIC COSMIC COSMIC |
| 3 | g.38551200C>A | CA433331892 | SCN5A | c.5169G>T (p.Gly1723=) c.5172G>T (p.Gly1724=) c.5118G>T (p.Gly1706=) c.5010G>T (p.Gly1670=) c.5073G>T (p.Gly1691=) c.5043G>T (p.Gly1681=) c.5115G>T (p.Gly1705=) | |
| 3 | g.38551200C= | CA1358557597 | SCN5A | c.5169G= (p.Gly1723=) c.5172G= (p.Gly1724=) c.5118G= (p.Gly1706=) c.5010G= (p.Gly1670=) c.5073G= (p.Gly1691=) c.5043G= (p.Gly1681=) c.5115G= (p.Gly1705=) | |
| 3 | g.38551200C>G | CA433331899 | SCN5A | c.5169G>C (p.Gly1723=) c.5172G>C (p.Gly1724=) c.5118G>C (p.Gly1706=) c.5010G>C (p.Gly1670=) c.5073G>C (p.Gly1691=) c.5043G>C (p.Gly1681=) c.5115G>C (p.Gly1705=) | |
| 3 | g.38551200C>T | CA433331897 | SCN5A | c.5169G>A (p.Gly1723=) c.5172G>A (p.Gly1724=) c.5118G>A (p.Gly1706=) c.5010G>A (p.Gly1670=) c.5073G>A (p.Gly1691=) c.5043G>A (p.Gly1681=) c.5115G>A (p.Gly1705=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38551201C>A | CA352142090 | SCN5A | c.5168G>T (p.Gly1723Val) c.5171G>T (p.Gly1724Val) c.5117G>T (p.Gly1706Val) c.5009G>T (p.Gly1670Val) c.5072G>T (p.Gly1691Val) c.5042G>T (p.Gly1681Val) c.5114G>T (p.Gly1705Val) | |
| 3 | g.38551201C>G | CA352142092 | SCN5A | c.5168G>C (p.Gly1723Ala) c.5171G>C (p.Gly1724Ala) c.5117G>C (p.Gly1706Ala) c.5009G>C (p.Gly1670Ala) c.5072G>C (p.Gly1691Ala) c.5042G>C (p.Gly1681Ala) c.5114G>C (p.Gly1705Ala) | |
| 3 | g.38551201C>T | CA352142093 | SCN5A | c.5168G>A (p.Gly1723Glu) c.5171G>A (p.Gly1724Glu) c.5117G>A (p.Gly1706Glu) c.5009G>A (p.Gly1670Glu) c.5072G>A (p.Gly1691Glu) c.5042G>A (p.Gly1681Glu) c.5114G>A (p.Gly1705Glu) | gnomAD v4 |
| 3 | g.38551202C>A | CA352142096 | SCN5A | c.5167G>T (p.Gly1723Trp) c.5170G>T (p.Gly1724Trp) c.5116G>T (p.Gly1706Trp) c.5008G>T (p.Gly1670Trp) c.5071G>T (p.Gly1691Trp) c.5041G>T (p.Gly1681Trp) c.5113G>T (p.Gly1705Trp) | |
| 3 | g.38551202C>G | CA352142097 | SCN5A | c.5167G>C (p.Gly1723Arg) c.5170G>C (p.Gly1724Arg) c.5116G>C (p.Gly1706Arg) c.5008G>C (p.Gly1670Arg) c.5071G>C (p.Gly1691Arg) c.5041G>C (p.Gly1681Arg) c.5113G>C (p.Gly1705Arg) | |
| 3 | g.38551202C>T | CA352142094 | SCN5A | c.5167G>A (p.Gly1723Arg) c.5170G>A (p.Gly1724Arg) c.5116G>A (p.Gly1706Arg) c.5008G>A (p.Gly1670Arg) c.5071G>A (p.Gly1691Arg) c.5041G>A (p.Gly1681Arg) c.5113G>A (p.Gly1705Arg) | |
| 3 | g.38551203A= | CA1358557600 | SCN5A | c.5166T= (p.Thr1722=) c.5169T= (p.Thr1723=) c.5115T= (p.Thr1705=) c.5007T= (p.Thr1669=) c.5070T= (p.Thr1690=) c.5040T= (p.Thr1680=) c.5112T= (p.Thr1704=) | |
| 3 | g.38551203A>C | CA433331904 | SCN5A | c.5166T>G (p.Thr1722=) c.5169T>G (p.Thr1723=) c.5115T>G (p.Thr1705=) c.5007T>G (p.Thr1669=) c.5070T>G (p.Thr1690=) c.5040T>G (p.Thr1680=) c.5112T>G (p.Thr1704=) | ClinVar gnomAD v3 gnomAD v4 |
| 3 | g.38551203A>G | CA433331905 | SCN5A | c.5166T>C (p.Thr1722=) c.5169T>C (p.Thr1723=) c.5115T>C (p.Thr1705=) c.5007T>C (p.Thr1669=) c.5070T>C (p.Thr1690=) c.5040T>C (p.Thr1680=) c.5112T>C (p.Thr1704=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38551203A>T | CA433331906 | SCN5A | c.5166T>A (p.Thr1722=) c.5169T>A (p.Thr1723=) c.5115T>A (p.Thr1705=) c.5007T>A (p.Thr1669=) c.5070T>A (p.Thr1690=) c.5040T>A (p.Thr1680=) c.5112T>A (p.Thr1704=) | gnomAD v4 |
| 3 | g.38551204G>A | CA352142100 | SCN5A | c.5165C>T (p.Thr1722Ile) c.5168C>T (p.Thr1723Ile) c.5114C>T (p.Thr1705Ile) c.5006C>T (p.Thr1669Ile) c.5069C>T (p.Thr1690Ile) c.5039C>T (p.Thr1680Ile) c.5111C>T (p.Thr1704Ile) | |
| 3 | g.38551204G>C | CA352142101 | SCN5A | c.5165C>G (p.Thr1722Ser) c.5168C>G (p.Thr1723Ser) c.5114C>G (p.Thr1705Ser) c.5006C>G (p.Thr1669Ser) c.5069C>G (p.Thr1690Ser) c.5039C>G (p.Thr1680Ser) c.5111C>G (p.Thr1704Ser) | |
| 3 | g.38551204G= | CA1358557607 | SCN5A | c.5165C= (p.Thr1722=) c.5168C= (p.Thr1723=) c.5114C= (p.Thr1705=) c.5006C= (p.Thr1669=) c.5069C= (p.Thr1690=) c.5039C= (p.Thr1680=) c.5111C= (p.Thr1704=) | |
| 3 | g.38551204G>T | CA018948 | SCN5A | c.5165C>A (p.Thr1722Asn) c.5168C>A (p.Thr1723Asn) c.5114C>A (p.Thr1705Asn) c.5006C>A (p.Thr1669Asn) c.5069C>A (p.Thr1690Asn) c.5039C>A (p.Thr1680Asn) c.5111C>A (p.Thr1704Asn) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38551205T>A | CA352142103 | SCN5A | c.5164A>T (p.Thr1722Ser) c.5167A>T (p.Thr1723Ser) c.5113A>T (p.Thr1705Ser) c.5005A>T (p.Thr1669Ser) c.5068A>T (p.Thr1690Ser) c.5038A>T (p.Thr1680Ser) c.5110A>T (p.Thr1704Ser) | |
| 3 | g.38551205T>C | CA352142105 | SCN5A | c.5164A>G (p.Thr1722Ala) c.5167A>G (p.Thr1723Ala) c.5113A>G (p.Thr1705Ala) c.5005A>G (p.Thr1669Ala) c.5068A>G (p.Thr1690Ala) c.5038A>G (p.Thr1680Ala) c.5110A>G (p.Thr1704Ala) | gnomAD v4 |
| 3 | g.38551205T>G | CA352142107 | SCN5A | c.5164A>C (p.Thr1722Pro) c.5167A>C (p.Thr1723Pro) c.5113A>C (p.Thr1705Pro) c.5005A>C (p.Thr1669Pro) c.5068A>C (p.Thr1690Pro) c.5038A>C (p.Thr1680Pro) c.5110A>C (p.Thr1704Pro) | |
| 3 | g.38551206G>A | CA433331910 | SCN5A | c.5163C>T (p.Asn1721=) c.5166C>T (p.Asn1722=) c.5112C>T (p.Asn1704=) c.5004C>T (p.Asn1668=) c.5067C>T (p.Asn1689=) c.5037C>T (p.Asn1679=) c.5109C>T (p.Asn1703=) | ClinVar dbSNP |
| 3 | g.38551206G>C | CA352142110 | SCN5A | c.5163C>G (p.Asn1721Lys) c.5166C>G (p.Asn1722Lys) c.5112C>G (p.Asn1704Lys) c.5004C>G (p.Asn1668Lys) c.5067C>G (p.Asn1689Lys) c.5037C>G (p.Asn1679Lys) c.5109C>G (p.Asn1703Lys) | |
| 3 | g.38551206G= | CA1358557617 | SCN5A | c.5163C= (p.Asn1721=) c.5166C= (p.Asn1722=) c.5112C= (p.Asn1704=) c.5004C= (p.Asn1668=) c.5067C= (p.Asn1689=) c.5037C= (p.Asn1679=) c.5109C= (p.Asn1703=) | |
| 3 | g.38551206G>T | CA352142108 | SCN5A | c.5163C>A (p.Asn1721Lys) c.5166C>A (p.Asn1722Lys) c.5112C>A (p.Asn1704Lys) c.5004C>A (p.Asn1668Lys) c.5067C>A (p.Asn1689Lys) c.5037C>A (p.Asn1679Lys) c.5109C>A (p.Asn1703Lys) | |
| 3 | g.38551207T>A | CA352142112 | SCN5A | c.5162A>T (p.Asn1721Ile) c.5165A>T (p.Asn1722Ile) c.5111A>T (p.Asn1704Ile) c.5003A>T (p.Asn1668Ile) c.5066A>T (p.Asn1689Ile) c.5036A>T (p.Asn1679Ile) c.5108A>T (p.Asn1703Ile) | |
| 3 | g.38551207T>C | CA352142114 | SCN5A | c.5162A>G (p.Asn1721Ser) c.5165A>G (p.Asn1722Ser) c.5111A>G (p.Asn1704Ser) c.5003A>G (p.Asn1668Ser) c.5066A>G (p.Asn1689Ser) c.5036A>G (p.Asn1679Ser) c.5108A>G (p.Asn1703Ser) | |
| 3 | g.38551207T>G | CA352142116 | SCN5A | c.5162A>C (p.Asn1721Thr) c.5165A>C (p.Asn1722Thr) c.5111A>C (p.Asn1704Thr) c.5003A>C (p.Asn1668Thr) c.5066A>C (p.Asn1689Thr) c.5036A>C (p.Asn1679Thr) c.5108A>C (p.Asn1703Thr) | |
| 3 | g.38551208T>A | CA352142118 | SCN5A | c.5161A>T (p.Asn1721Tyr) c.5164A>T (p.Asn1722Tyr) c.5110A>T (p.Asn1704Tyr) c.5002A>T (p.Asn1668Tyr) c.5065A>T (p.Asn1689Tyr) c.5035A>T (p.Asn1679Tyr) c.5107A>T (p.Asn1703Tyr) | |
| 3 | g.38551208T>C | CA018943 | SCN5A | c.5161A>G (p.Asn1721Asp) c.5164A>G (p.Asn1722Asp) c.5110A>G (p.Asn1704Asp) c.5002A>G (p.Asn1668Asp) c.5065A>G (p.Asn1689Asp) c.5035A>G (p.Asn1679Asp) c.5107A>G (p.Asn1703Asp) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38551208T>G | CA352142121 | SCN5A | c.5161A>C (p.Asn1721His) c.5164A>C (p.Asn1722His) c.5110A>C (p.Asn1704His) c.5002A>C (p.Asn1668His) c.5065A>C (p.Asn1689His) c.5035A>C (p.Asn1679His) c.5107A>C (p.Asn1703His) | |
| 3 | g.38551208T= | CA1358557622 | SCN5A | c.5161A= (p.Asn1721=) c.5164A= (p.Asn1722=) c.5110A= (p.Asn1704=) c.5002A= (p.Asn1668=) c.5065A= (p.Asn1689=) c.5035A= (p.Asn1679=) c.5107A= (p.Asn1703=) | |
| 3 | g.38551209G>A | CA433331916 | SCN5A | c.5160C>T (p.Leu1720=) c.5163C>T (p.Leu1721=) c.5109C>T (p.Leu1703=) c.5001C>T (p.Leu1667=) c.5064C>T (p.Leu1688=) c.5034C>T (p.Leu1678=) c.5106C>T (p.Leu1702=) | gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.38551209G>C | CA433331918 | SCN5A | c.5160C>G (p.Leu1720=) c.5163C>G (p.Leu1721=) c.5109C>G (p.Leu1703=) c.5001C>G (p.Leu1667=) c.5064C>G (p.Leu1688=) c.5034C>G (p.Leu1678=) c.5106C>G (p.Leu1702=) | |
| 3 | g.38551209G>T | CA433331920 | SCN5A | c.5160C>A (p.Leu1720=) c.5163C>A (p.Leu1721=) c.5109C>A (p.Leu1703=) c.5001C>A (p.Leu1667=) c.5064C>A (p.Leu1688=) c.5034C>A (p.Leu1678=) c.5106C>A (p.Leu1702=) | |
| 3 | g.38551210A>C | CA352142123 | SCN5A | c.5159T>G (p.Leu1720Arg) c.5162T>G (p.Leu1721Arg) c.5108T>G (p.Leu1703Arg) c.5000T>G (p.Leu1667Arg) c.5063T>G (p.Leu1688Arg) c.5033T>G (p.Leu1678Arg) c.5105T>G (p.Leu1702Arg) | |
| 3 | g.38551210A>G | CA352142127 | SCN5A | c.5159T>C (p.Leu1720Pro) c.5162T>C (p.Leu1721Pro) c.5108T>C (p.Leu1703Pro) c.5000T>C (p.Leu1667Pro) c.5063T>C (p.Leu1688Pro) c.5033T>C (p.Leu1678Pro) c.5105T>C (p.Leu1702Pro) | |
| 3 | g.38551210A>T | CA352142125 | SCN5A | c.5159T>A (p.Leu1720His) c.5162T>A (p.Leu1721His) c.5108T>A (p.Leu1703His) c.5000T>A (p.Leu1667His) c.5063T>A (p.Leu1688His) c.5033T>A (p.Leu1678His) c.5105T>A (p.Leu1702His) | |
| 3 | g.38551211G>A | CA352142129 | SCN5A | c.5158C>T (p.Leu1720Phe) c.5161C>T (p.Leu1721Phe) c.5107C>T (p.Leu1703Phe) c.4999C>T (p.Leu1667Phe) c.5062C>T (p.Leu1688Phe) c.5032C>T (p.Leu1678Phe) c.5104C>T (p.Leu1702Phe) | |
| 3 | g.38551211G>C | CA352142131 | SCN5A | c.5158C>G (p.Leu1720Val) c.5161C>G (p.Leu1721Val) c.5107C>G (p.Leu1703Val) c.4999C>G (p.Leu1667Val) c.5062C>G (p.Leu1688Val) c.5032C>G (p.Leu1678Val) c.5104C>G (p.Leu1702Val) | |
| 3 | g.38551211G>T | CA352142132 | SCN5A | c.5158C>A (p.Leu1720Ile) c.5161C>A (p.Leu1721Ile) c.5107C>A (p.Leu1703Ile) c.4999C>A (p.Leu1667Ile) c.5062C>A (p.Leu1688Ile) c.5032C>A (p.Leu1678Ile) c.5104C>A (p.Leu1702Ile) | |
| 3 | g.38551212G>A | CA433331929 | SCN5A | c.5157C>T (p.Ile1719=) c.5160C>T (p.Ile1720=) c.5106C>T (p.Ile1702=) c.4998C>T (p.Ile1666=) c.5061C>T (p.Ile1687=) c.5031C>T (p.Ile1677=) c.5103C>T (p.Ile1701=) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38551212G>C | CA352142134 | SCN5A | c.5157C>G (p.Ile1719Met) c.5160C>G (p.Ile1720Met) c.5106C>G (p.Ile1702Met) c.4998C>G (p.Ile1666Met) c.5061C>G (p.Ile1687Met) c.5031C>G (p.Ile1677Met) c.5103C>G (p.Ile1701Met) | |
| 3 | g.38551212G>T | CA433331934 | SCN5A | c.5157C>A (p.Ile1719=) c.5160C>A (p.Ile1720=) c.5106C>A (p.Ile1702=) c.4998C>A (p.Ile1666=) c.5061C>A (p.Ile1687=) c.5031C>A (p.Ile1677=) c.5103C>A (p.Ile1701=) | |
| 3 | g.38551213A>C | CA352142136 | SCN5A | c.5156T>G (p.Ile1719Ser) c.5159T>G (p.Ile1720Ser) c.5105T>G (p.Ile1702Ser) c.4997T>G (p.Ile1666Ser) c.5060T>G (p.Ile1687Ser) c.5030T>G (p.Ile1677Ser) c.5102T>G (p.Ile1701Ser) | |
| 3 | g.38551213A>G | CA352142138 | SCN5A | c.5156T>C (p.Ile1719Thr) c.5159T>C (p.Ile1720Thr) c.5105T>C (p.Ile1702Thr) c.4997T>C (p.Ile1666Thr) c.5060T>C (p.Ile1687Thr) c.5030T>C (p.Ile1677Thr) c.5102T>C (p.Ile1701Thr) | |
| 3 | g.38551213A>T | CA352142140 | SCN5A | c.5156T>A (p.Ile1719Asn) c.5159T>A (p.Ile1720Asn) c.5105T>A (p.Ile1702Asn) c.4997T>A (p.Ile1666Asn) c.5060T>A (p.Ile1687Asn) c.5030T>A (p.Ile1677Asn) c.5102T>A (p.Ile1701Asn) | |
| 3 | g.38551214T>A | CA352142142 | SCN5A | c.5155A>T (p.Ile1719Phe) c.5158A>T (p.Ile1720Phe) c.5104A>T (p.Ile1702Phe) c.4996A>T (p.Ile1666Phe) c.5059A>T (p.Ile1687Phe) c.5029A>T (p.Ile1677Phe) c.5101A>T (p.Ile1701Phe) | |
| 3 | g.38551214T>C | CA352142144 | SCN5A | c.5155A>G (p.Ile1719Val) c.5158A>G (p.Ile1720Val) c.5104A>G (p.Ile1702Val) c.4996A>G (p.Ile1666Val) c.5059A>G (p.Ile1687Val) c.5029A>G (p.Ile1677Val) c.5101A>G (p.Ile1701Val) | dbSNP |
| 3 | g.38551214T>G | CA352142146 | SCN5A | c.5155A>C (p.Ile1719Leu) c.5158A>C (p.Ile1720Leu) c.5104A>C (p.Ile1702Leu) c.4996A>C (p.Ile1666Leu) c.5059A>C (p.Ile1687Leu) c.5029A>C (p.Ile1677Leu) c.5101A>C (p.Ile1701Leu) | |
| 3 | g.38551214T= | CA1358557628 | SCN5A | c.5155A= (p.Ile1719=) c.5158A= (p.Ile1720=) c.5104A= (p.Ile1702=) c.4996A= (p.Ile1666=) c.5059A= (p.Ile1687=) c.5029A= (p.Ile1677=) c.5101A= (p.Ile1701=) | |
| 3 | g.38551215G>A | CA433331938 | SCN5A | c.5154C>T (p.Pro1718=) c.5157C>T (p.Pro1719=) c.5103C>T (p.Pro1701=) c.4995C>T (p.Pro1665=) c.5058C>T (p.Pro1686=) c.5028C>T (p.Pro1676=) c.5100C>T (p.Pro1700=) | ClinVar gnomAD v4 |
| 3 | g.38551215G>C | CA433331940 | SCN5A | c.5154C>G (p.Pro1718=) c.5157C>G (p.Pro1719=) c.5103C>G (p.Pro1701=) c.4995C>G (p.Pro1665=) c.5058C>G (p.Pro1686=) c.5028C>G (p.Pro1676=) c.5100C>G (p.Pro1700=) | |
| 3 | g.38551215G>T | CA433331937 | SCN5A | c.5154C>A (p.Pro1718=) c.5157C>A (p.Pro1719=) c.5103C>A (p.Pro1701=) c.4995C>A (p.Pro1665=) c.5058C>A (p.Pro1686=) c.5028C>A (p.Pro1676=) c.5100C>A (p.Pro1700=) | |
| 3 | g.38551218del | CA2586965817 | SCN5A | c.5154del (p.Ile1719SerfsTer?) c.5157del (p.Ile1720SerfsTer?) c.5103del (p.Ile1702SerfsTer?) c.4995del (p.Ile1666SerfsTer?) c.5058del (p.Ile1687SerfsTer?) c.5028del (p.Ile1677SerfsTer?) c.5100del (p.Ile1701SerfsTer?) | |
| 3 | g.38551216G>A | CA352142148 | SCN5A | c.5153C>T (p.Pro1718Leu) c.5156C>T (p.Pro1719Leu) c.5102C>T (p.Pro1701Leu) c.4994C>T (p.Pro1665Leu) c.5057C>T (p.Pro1686Leu) c.5027C>T (p.Pro1676Leu) c.5099C>T (p.Pro1700Leu) | ClinVar dbSNP |
| 3 | g.38551216G>C | CA352142150 | SCN5A | c.5153C>G (p.Pro1718Arg) c.5156C>G (p.Pro1719Arg) c.5102C>G (p.Pro1701Arg) c.4994C>G (p.Pro1665Arg) c.5057C>G (p.Pro1686Arg) c.5027C>G (p.Pro1676Arg) c.5099C>G (p.Pro1700Arg) | |
| 3 | g.38551216G>T | CA352142152 | SCN5A | c.5153C>A (p.Pro1718His) c.5156C>A (p.Pro1719His) c.5102C>A (p.Pro1701His) c.4994C>A (p.Pro1665His) c.5057C>A (p.Pro1686His) c.5027C>A (p.Pro1676His) c.5099C>A (p.Pro1700His) | |
| 3 | g.38551217G>A | CA352142156 | SCN5A | c.5152C>T (p.Pro1718Ser) c.5155C>T (p.Pro1719Ser) c.5101C>T (p.Pro1701Ser) c.4993C>T (p.Pro1665Ser) c.5056C>T (p.Pro1686Ser) c.5026C>T (p.Pro1676Ser) c.5098C>T (p.Pro1700Ser) | COSMIC COSMIC COSMIC |
| 3 | g.38551217G>C | CA352142158 | SCN5A | c.5152C>G (p.Pro1718Ala) c.5155C>G (p.Pro1719Ala) c.5101C>G (p.Pro1701Ala) c.4993C>G (p.Pro1665Ala) c.5056C>G (p.Pro1686Ala) c.5026C>G (p.Pro1676Ala) c.5098C>G (p.Pro1700Ala) | |
| 3 | g.38551217G>T | CA352142154 | SCN5A | c.5152C>A (p.Pro1718Thr) c.5155C>A (p.Pro1719Thr) c.5101C>A (p.Pro1701Thr) c.4993C>A (p.Pro1665Thr) c.5056C>A (p.Pro1686Thr) c.5026C>A (p.Pro1676Thr) c.5098C>A (p.Pro1700Thr) | |
| 3 | g.38551218G>A | CA433331945 | SCN5A | c.5151C>T (p.Ser1717=) c.5154C>T (p.Ser1718=) c.5100C>T (p.Ser1700=) c.4992C>T (p.Ser1664=) c.5055C>T (p.Ser1685=) c.5025C>T (p.Ser1675=) c.5097C>T (p.Ser1699=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38551218G>C | CA352142161 | SCN5A | c.5151C>G (p.Ser1717Arg) c.5154C>G (p.Ser1718Arg) c.5100C>G (p.Ser1700Arg) c.4992C>G (p.Ser1664Arg) c.5055C>G (p.Ser1685Arg) c.5025C>G (p.Ser1675Arg) c.5097C>G (p.Ser1699Arg) | ClinVar dbSNP |
| 3 | g.38551218G= | CA1358557630 | SCN5A | c.5151C= (p.Ser1717=) c.5154C= (p.Ser1718=) c.5100C= (p.Ser1700=) c.4992C= (p.Ser1664=) c.5055C= (p.Ser1685=) c.5025C= (p.Ser1675=) c.5097C= (p.Ser1699=) | |
| 3 | g.38551218G>T | CA064180 | SCN5A | c.5151C>A (p.Ser1717Arg) c.5154C>A (p.Ser1718Arg) c.5100C>A (p.Ser1700Arg) c.4992C>A (p.Ser1664Arg) c.5055C>A (p.Ser1685Arg) c.5025C>A (p.Ser1675Arg) c.5097C>A (p.Ser1699Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38551219C>A | CA352142163 | SCN5A | c.5150G>T (p.Ser1717Ile) c.5153G>T (p.Ser1718Ile) c.5099G>T (p.Ser1700Ile) c.4991G>T (p.Ser1664Ile) c.5054G>T (p.Ser1685Ile) c.5024G>T (p.Ser1675Ile) c.5096G>T (p.Ser1699Ile) | |
| 3 | g.38551219C= | CA1358557632 | SCN5A | c.5150G= (p.Ser1717=) c.5153G= (p.Ser1718=) c.5099G= (p.Ser1700=) c.4991G= (p.Ser1664=) c.5054G= (p.Ser1685=) c.5024G= (p.Ser1675=) c.5096G= (p.Ser1699=) | |
| 3 | g.38551219C>G | CA352142165 | SCN5A | c.5150G>C (p.Ser1717Thr) c.5153G>C (p.Ser1718Thr) c.5099G>C (p.Ser1700Thr) c.4991G>C (p.Ser1664Thr) c.5054G>C (p.Ser1685Thr) c.5024G>C (p.Ser1675Thr) c.5096G>C (p.Ser1699Thr) | |
| 3 | g.38551219C>T | CA352142166 | SCN5A | c.5150G>A (p.Ser1717Asn) c.5153G>A (p.Ser1718Asn) c.5099G>A (p.Ser1700Asn) c.4991G>A (p.Ser1664Asn) c.5054G>A (p.Ser1685Asn) c.5024G>A (p.Ser1675Asn) c.5096G>A (p.Ser1699Asn) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38551220T>A | CA352142168 | SCN5A | c.5149A>T (p.Ser1717Cys) c.5152A>T (p.Ser1718Cys) c.5098A>T (p.Ser1700Cys) c.4990A>T (p.Ser1664Cys) c.5053A>T (p.Ser1685Cys) c.5023A>T (p.Ser1675Cys) c.5095A>T (p.Ser1699Cys) | |
| 3 | g.38551220T>C | CA352142169 | SCN5A | c.5149A>G (p.Ser1717Gly) c.5152A>G (p.Ser1718Gly) c.5098A>G (p.Ser1700Gly) c.4990A>G (p.Ser1664Gly) c.5053A>G (p.Ser1685Gly) c.5023A>G (p.Ser1675Gly) c.5095A>G (p.Ser1699Gly) | |
| 3 | g.38551220T>G | CA352142170 | SCN5A | c.5149A>C (p.Ser1717Arg) c.5152A>C (p.Ser1718Arg) c.5098A>C (p.Ser1700Arg) c.4990A>C (p.Ser1664Arg) c.5053A>C (p.Ser1685Arg) c.5023A>C (p.Ser1675Arg) c.5095A>C (p.Ser1699Arg) | |
| 3 | g.38551221G>A | CA433331956 | SCN5A | c.5148C>T (p.Leu1716=) c.5151C>T (p.Leu1717=) c.5097C>T (p.Leu1699=) c.4989C>T (p.Leu1663=) c.5052C>T (p.Leu1684=) c.5022C>T (p.Leu1674=) c.5094C>T (p.Leu1698=) | |
| 3 | g.38551221G>C | CA433331961 | SCN5A | c.5148C>G (p.Leu1716=) c.5151C>G (p.Leu1717=) c.5097C>G (p.Leu1699=) c.4989C>G (p.Leu1663=) c.5052C>G (p.Leu1684=) c.5022C>G (p.Leu1674=) c.5094C>G (p.Leu1698=) | ClinVar |
| 3 | g.38551221G>T | CA433331959 | SCN5A | c.5148C>A (p.Leu1716=) c.5151C>A (p.Leu1717=) c.5097C>A (p.Leu1699=) c.4989C>A (p.Leu1663=) c.5052C>A (p.Leu1684=) c.5022C>A (p.Leu1674=) c.5094C>A (p.Leu1698=) | |
| 3 | g.38551222A>C | CA352142172 | SCN5A | c.5147T>G (p.Leu1716Arg) c.5150T>G (p.Leu1717Arg) c.5096T>G (p.Leu1699Arg) c.4988T>G (p.Leu1663Arg) c.5051T>G (p.Leu1684Arg) c.5021T>G (p.Leu1674Arg) c.5093T>G (p.Leu1698Arg) | |
| 3 | g.38551222A>G | CA352142174 | SCN5A | c.5147T>C (p.Leu1716Pro) c.5150T>C (p.Leu1717Pro) c.5096T>C (p.Leu1699Pro) c.4988T>C (p.Leu1663Pro) c.5051T>C (p.Leu1684Pro) c.5021T>C (p.Leu1674Pro) c.5093T>C (p.Leu1698Pro) | gnomAD v4 |
| 3 | g.38551222A>T | CA352142176 | SCN5A | c.5147T>A (p.Leu1716His) c.5150T>A (p.Leu1717His) c.5096T>A (p.Leu1699His) c.4988T>A (p.Leu1663His) c.5051T>A (p.Leu1684His) c.5021T>A (p.Leu1674His) c.5093T>A (p.Leu1698His) | |
| 3 | g.38551223G>A | CA352142178 | SCN5A | c.5146C>T (p.Leu1716Phe) c.5149C>T (p.Leu1717Phe) c.5095C>T (p.Leu1699Phe) c.4987C>T (p.Leu1663Phe) c.5050C>T (p.Leu1684Phe) c.5020C>T (p.Leu1674Phe) c.5092C>T (p.Leu1698Phe) | |
| 3 | g.38551223G>C | CA352142180 | SCN5A | c.5146C>G (p.Leu1716Val) c.5149C>G (p.Leu1717Val) c.5095C>G (p.Leu1699Val) c.4987C>G (p.Leu1663Val) c.5050C>G (p.Leu1684Val) c.5020C>G (p.Leu1674Val) c.5092C>G (p.Leu1698Val) | |
| 3 | g.38551223G>T | CA352142182 | SCN5A | c.5146C>A (p.Leu1716Ile) c.5149C>A (p.Leu1717Ile) c.5095C>A (p.Leu1699Ile) c.4987C>A (p.Leu1663Ile) c.5050C>A (p.Leu1684Ile) c.5020C>A (p.Leu1674Ile) c.5092C>A (p.Leu1698Ile) | |
| 3 | g.38551224G>A | CA433331965 | SCN5A | c.5145C>T (p.Leu1715=) c.5148C>T (p.Leu1716=) c.5094C>T (p.Leu1698=) c.4986C>T (p.Leu1662=) c.5049C>T (p.Leu1683=) c.5019C>T (p.Leu1673=) c.5091C>T (p.Leu1697=) | dbSNP gnomAD v2 |
| 3 | g.38551224G>C | CA433331966 | SCN5A | c.5145C>G (p.Leu1715=) c.5148C>G (p.Leu1716=) c.5094C>G (p.Leu1698=) c.4986C>G (p.Leu1662=) c.5049C>G (p.Leu1683=) c.5019C>G (p.Leu1673=) c.5091C>G (p.Leu1697=) | |
| 3 | g.38551224G= | CA1358557636 | SCN5A | c.5145C= (p.Leu1715=) c.5148C= (p.Leu1716=) c.5094C= (p.Leu1698=) c.4986C= (p.Leu1662=) c.5049C= (p.Leu1683=) c.5019C= (p.Leu1673=) c.5091C= (p.Leu1697=) | |
| 3 | g.38551224G>T | CA433331970 | SCN5A | c.5145C>A (p.Leu1715=) c.5148C>A (p.Leu1716=) c.5094C>A (p.Leu1698=) c.4986C>A (p.Leu1662=) c.5049C>A (p.Leu1683=) c.5019C>A (p.Leu1673=) c.5091C>A (p.Leu1697=) | |
| 3 | g.38551225A>C | CA352142188 | SCN5A | c.5144T>G (p.Leu1715Arg) c.5147T>G (p.Leu1716Arg) c.5093T>G (p.Leu1698Arg) c.4985T>G (p.Leu1662Arg) c.5048T>G (p.Leu1683Arg) c.5018T>G (p.Leu1673Arg) c.5090T>G (p.Leu1697Arg) | |
| 3 | g.38551225A>G | CA352142186 | SCN5A | c.5144T>C (p.Leu1715Pro) c.5147T>C (p.Leu1716Pro) c.5093T>C (p.Leu1698Pro) c.4985T>C (p.Leu1662Pro) c.5048T>C (p.Leu1683Pro) c.5018T>C (p.Leu1673Pro) c.5090T>C (p.Leu1697Pro) | |
| 3 | g.38551225A>T | CA352142184 | SCN5A | c.5144T>A (p.Leu1715His) c.5147T>A (p.Leu1716His) c.5093T>A (p.Leu1698His) c.4985T>A (p.Leu1662His) c.5048T>A (p.Leu1683His) c.5018T>A (p.Leu1673His) c.5090T>A (p.Leu1697His) | |
| 3 | g.38551225_38551226delinsAG | CA1358557640 | SCN5A | c.5143_5144delinsCT (p.Leu1715=) c.5146_5147delinsCT (p.Leu1716=) c.5092_5093delinsCT (p.Leu1698=) c.4984_4985delinsCT (p.Leu1662=) c.5047_5048delinsCT (p.Leu1683=) c.5017_5018delinsCT (p.Leu1673=) c.5089_5090delinsCT (p.Leu1697=) | |
| 3 | g.38551226G>A | CA72938090 | SCN5A | c.5143C>T (p.Leu1715Phe) c.5146C>T (p.Leu1716Phe) c.5092C>T (p.Leu1698Phe) c.4984C>T (p.Leu1662Phe) c.5047C>T (p.Leu1683Phe) c.5017C>T (p.Leu1673Phe) c.5089C>T (p.Leu1697Phe) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38551226G>C | CA352142190 | SCN5A | c.5143C>G (p.Leu1715Val) c.5146C>G (p.Leu1716Val) c.5092C>G (p.Leu1698Val) c.4984C>G (p.Leu1662Val) c.5047C>G (p.Leu1683Val) c.5017C>G (p.Leu1673Val) c.5089C>G (p.Leu1697Val) | |
| 3 | g.38551226G= | CA1358557644 | SCN5A | c.5143C= (p.Leu1715=) c.5146C= (p.Leu1716=) c.5092C= (p.Leu1698=) c.4984C= (p.Leu1662=) c.5047C= (p.Leu1683=) c.5017C= (p.Leu1673=) c.5089C= (p.Leu1697=) | |
| 3 | g.38551226G>T | CA352142192 | SCN5A | c.5143C>A (p.Leu1715Ile) c.5146C>A (p.Leu1716Ile) c.5092C>A (p.Leu1698Ile) c.4984C>A (p.Leu1662Ile) c.5047C>A (p.Leu1683Ile) c.5017C>A (p.Leu1673Ile) c.5089C>A (p.Leu1697Ile) | |
| 3 | g.38551227del | CA542615524 | SCN5A | c.5143del (p.Leu1715SerfsTer?) c.5146del (p.Leu1716SerfsTer?) c.5092del (p.Leu1698SerfsTer?) c.4984del (p.Leu1662SerfsTer?) c.5047del (p.Leu1683SerfsTer?) c.5017del (p.Leu1673SerfsTer?) c.5089del (p.Leu1697SerfsTer?) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38551227G>A | CA433331972 | SCN5A | c.5142C>T (p.Gly1714=) c.5145C>T (p.Gly1715=) c.5091C>T (p.Gly1697=) c.4983C>T (p.Gly1661=) c.5046C>T (p.Gly1682=) c.5016C>T (p.Gly1672=) c.5088C>T (p.Gly1696=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38551227G>C | CA433331973 | SCN5A | c.5142C>G (p.Gly1714=) c.5145C>G (p.Gly1715=) c.5091C>G (p.Gly1697=) c.4983C>G (p.Gly1661=) c.5046C>G (p.Gly1682=) c.5016C>G (p.Gly1672=) c.5088C>G (p.Gly1696=) | ClinVar |
| 3 | g.38551227G>T | CA433331975 | SCN5A | c.5142C>A (p.Gly1714=) c.5145C>A (p.Gly1715=) c.5091C>A (p.Gly1697=) c.4983C>A (p.Gly1661=) c.5046C>A (p.Gly1682=) c.5016C>A (p.Gly1672=) c.5088C>A (p.Gly1696=) | |
| 3 | g.38551228C>A | CA352142194 | SCN5A | c.5141G>T (p.Gly1714Val) c.5144G>T (p.Gly1715Val) c.5090G>T (p.Gly1697Val) c.4982G>T (p.Gly1661Val) c.5045G>T (p.Gly1682Val) c.5015G>T (p.Gly1672Val) c.5087G>T (p.Gly1696Val) | |
| 3 | g.38551228C= | CA1358557646 | SCN5A | c.5141G= (p.Gly1714=) c.5144G= (p.Gly1715=) c.5090G= (p.Gly1697=) c.4982G= (p.Gly1661=) c.5045G= (p.Gly1682=) c.5015G= (p.Gly1672=) c.5087G= (p.Gly1696=) | |
| 3 | g.38551228C>G | CA018938 | SCN5A | c.5141G>C (p.Gly1714Ala) c.5144G>C (p.Gly1715Ala) c.5090G>C (p.Gly1697Ala) c.4982G>C (p.Gly1661Ala) c.5045G>C (p.Gly1682Ala) c.5015G>C (p.Gly1672Ala) c.5087G>C (p.Gly1696Ala) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38551228C>T | CA352142197 | SCN5A | c.5141G>A (p.Gly1714Asp) c.5144G>A (p.Gly1715Asp) c.5090G>A (p.Gly1697Asp) c.4982G>A (p.Gly1661Asp) c.5045G>A (p.Gly1682Asp) c.5015G>A (p.Gly1672Asp) c.5087G>A (p.Gly1696Asp) | ClinVar COSMIC COSMIC COSMIC |
| 3 | g.38551229C>A | CA352142199 | SCN5A | c.5140G>T (p.Gly1714Cys) c.5143G>T (p.Gly1715Cys) c.5089G>T (p.Gly1697Cys) c.4981G>T (p.Gly1661Cys) c.5044G>T (p.Gly1682Cys) c.5014G>T (p.Gly1672Cys) c.5086G>T (p.Gly1696Cys) | |
| 3 | g.38551229C>G | CA352142201 | SCN5A | c.5140G>C (p.Gly1714Arg) c.5143G>C (p.Gly1715Arg) c.5089G>C (p.Gly1697Arg) c.4981G>C (p.Gly1661Arg) c.5044G>C (p.Gly1682Arg) c.5014G>C (p.Gly1672Arg) c.5086G>C (p.Gly1696Arg) | |
| 3 | g.38551229C>T | CA352142203 | SCN5A | c.5140G>A (p.Gly1714Ser) c.5143G>A (p.Gly1715Ser) c.5089G>A (p.Gly1697Ser) c.4981G>A (p.Gly1661Ser) c.5044G>A (p.Gly1682Ser) c.5014G>A (p.Gly1672Ser) c.5086G>A (p.Gly1696Ser) | COSMIC COSMIC COSMIC |
| 3 | g.38551230A>C | CA352142204 | SCN5A | c.5139T>G (p.Asp1713Glu) c.5142T>G (p.Asp1714Glu) c.5088T>G (p.Asp1696Glu) c.4980T>G (p.Asp1660Glu) c.5043T>G (p.Asp1681Glu) c.5013T>G (p.Asp1671Glu) c.5085T>G (p.Asp1695Glu) | |
| 3 | g.38551230A>G | CA433331979 | SCN5A | c.5139T>C (p.Asp1713=) c.5142T>C (p.Asp1714=) c.5088T>C (p.Asp1696=) c.4980T>C (p.Asp1660=) c.5043T>C (p.Asp1681=) c.5013T>C (p.Asp1671=) c.5085T>C (p.Asp1695=) | ClinVar |
| 3 | g.38551230A>T | CA352142206 | SCN5A | c.5139T>A (p.Asp1713Glu) c.5142T>A (p.Asp1714Glu) c.5088T>A (p.Asp1696Glu) c.4980T>A (p.Asp1660Glu) c.5043T>A (p.Asp1681Glu) c.5013T>A (p.Asp1671Glu) c.5085T>A (p.Asp1695Glu) | |
| 3 | g.38551231T>A | CA352142208 | SCN5A | c.5138A>T (p.Asp1713Val) c.5141A>T (p.Asp1714Val) c.5087A>T (p.Asp1696Val) c.4979A>T (p.Asp1660Val) c.5042A>T (p.Asp1681Val) c.5012A>T (p.Asp1671Val) c.5084A>T (p.Asp1695Val) | |
| 3 | g.38551231T>C | CA018933 | SCN5A | c.5138A>G (p.Asp1713Gly) c.5141A>G (p.Asp1714Gly) c.5087A>G (p.Asp1696Gly) c.4979A>G (p.Asp1660Gly) c.5042A>G (p.Asp1681Gly) c.5012A>G (p.Asp1671Gly) c.5084A>G (p.Asp1695Gly) | ClinVar dbSNP |
| 3 | g.38551231T>G | CA352142209 | SCN5A | c.5138A>C (p.Asp1713Ala) c.5141A>C (p.Asp1714Ala) c.5087A>C (p.Asp1696Ala) c.4979A>C (p.Asp1660Ala) c.5042A>C (p.Asp1681Ala) c.5012A>C (p.Asp1671Ala) c.5084A>C (p.Asp1695Ala) | |
| 3 | g.38551231T= | CA1358557648 | SCN5A | c.5138A= (p.Asp1713=) c.5141A= (p.Asp1714=) c.5087A= (p.Asp1696=) c.4979A= (p.Asp1660=) c.5042A= (p.Asp1681=) c.5012A= (p.Asp1671=) c.5084A= (p.Asp1695=) | |
| 3 | g.38551232C>A | CA352142213 | SCN5A | c.5137G>T (p.Asp1713Tyr) c.5140G>T (p.Asp1714Tyr) c.5086G>T (p.Asp1696Tyr) c.4978G>T (p.Asp1660Tyr) c.5041G>T (p.Asp1681Tyr) c.5011G>T (p.Asp1671Tyr) c.5083G>T (p.Asp1695Tyr) | |
| 3 | g.38551232C= | CA1358557654 | SCN5A | c.5137G= (p.Asp1713=) c.5140G= (p.Asp1714=) c.5086G= (p.Asp1696=) c.4978G= (p.Asp1660=) c.5041G= (p.Asp1681=) c.5011G= (p.Asp1671=) c.5083G= (p.Asp1695=) | |
| 3 | g.38551232C>G | CA352142214 | SCN5A | c.5137G>C (p.Asp1713His) c.5140G>C (p.Asp1714His) c.5086G>C (p.Asp1696His) c.4978G>C (p.Asp1660His) c.5041G>C (p.Asp1681His) c.5011G>C (p.Asp1671His) c.5083G>C (p.Asp1695His) | |
| 3 | g.38551232C>T | CA018925 | SCN5A | c.5137G>A (p.Asp1713Asn) c.5140G>A (p.Asp1714Asn) c.5086G>A (p.Asp1696Asn) c.4978G>A (p.Asp1660Asn) c.5041G>A (p.Asp1681Asn) c.5011G>A (p.Asp1671Asn) c.5083G>A (p.Asp1695Asn) | ClinVar dbSNP |
| 3 | g.38551233C>A | CA352142217 | SCN5A | c.5136G>T (p.Trp1712Cys) c.5139G>T (p.Trp1713Cys) c.5085G>T (p.Trp1695Cys) c.4977G>T (p.Trp1659Cys) c.5040G>T (p.Trp1680Cys) c.5010G>T (p.Trp1670Cys) c.5082G>T (p.Trp1694Cys) | |
| 3 | g.38551233C>G | CA352142219 | SCN5A | c.5136G>C (p.Trp1712Cys) c.5139G>C (p.Trp1713Cys) c.5085G>C (p.Trp1695Cys) c.4977G>C (p.Trp1659Cys) c.5040G>C (p.Trp1680Cys) c.5010G>C (p.Trp1670Cys) c.5082G>C (p.Trp1694Cys) | gnomAD v4 |
| 3 | g.38551233C>T | CA352142220 | SCN5A | c.5136G>A (p.Trp1712Ter) c.5139G>A (p.Trp1713Ter) c.5085G>A (p.Trp1695Ter) c.4977G>A (p.Trp1659Ter) c.5040G>A (p.Trp1680Ter) c.5010G>A (p.Trp1670Ter) c.5082G>A (p.Trp1694Ter) | COSMIC COSMIC COSMIC |
| 3 | g.38551234C>A | CA352142222 | SCN5A | c.5135G>T (p.Trp1712Leu) c.5138G>T (p.Trp1713Leu) c.5084G>T (p.Trp1695Leu) c.4976G>T (p.Trp1659Leu) c.5039G>T (p.Trp1680Leu) c.5009G>T (p.Trp1670Leu) c.5081G>T (p.Trp1694Leu) | |
| 3 | g.38551234C= | CA1358557657 | SCN5A | c.5135G= (p.Trp1712=) c.5138G= (p.Trp1713=) c.5084G= (p.Trp1695=) c.4976G= (p.Trp1659=) c.5039G= (p.Trp1680=) c.5009G= (p.Trp1670=) c.5081G= (p.Trp1694=) | |
| 3 | g.38551234C>G | CA352142224 | SCN5A | c.5135G>C (p.Trp1712Ser) c.5138G>C (p.Trp1713Ser) c.5084G>C (p.Trp1695Ser) c.4976G>C (p.Trp1659Ser) c.5039G>C (p.Trp1680Ser) c.5009G>C (p.Trp1670Ser) c.5081G>C (p.Trp1694Ser) | |
| 3 | g.38551234C>T | CA352142226 | SCN5A | c.5135G>A (p.Trp1712Ter) c.5138G>A (p.Trp1713Ter) c.5084G>A (p.Trp1695Ter) c.4976G>A (p.Trp1659Ter) c.5039G>A (p.Trp1680Ter) c.5009G>A (p.Trp1670Ter) c.5081G>A (p.Trp1694Ter) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38551235A>C | CA352142227 | SCN5A | c.5134T>G (p.Trp1712Gly) c.5137T>G (p.Trp1713Gly) c.5083T>G (p.Trp1695Gly) c.4975T>G (p.Trp1659Gly) c.5038T>G (p.Trp1680Gly) c.5008T>G (p.Trp1670Gly) c.5080T>G (p.Trp1694Gly) | |
| 3 | g.38551235A>G | CA352142228 | SCN5A | c.5134T>C (p.Trp1712Arg) c.5137T>C (p.Trp1713Arg) c.5083T>C (p.Trp1695Arg) c.4975T>C (p.Trp1659Arg) c.5038T>C (p.Trp1680Arg) c.5008T>C (p.Trp1670Arg) c.5080T>C (p.Trp1694Arg) | |
| 3 | g.38551235A>T | CA352142229 | SCN5A | c.5134T>A (p.Trp1712Arg) c.5137T>A (p.Trp1713Arg) c.5083T>A (p.Trp1695Arg) c.4975T>A (p.Trp1659Arg) c.5038T>A (p.Trp1680Arg) c.5008T>A (p.Trp1670Arg) c.5080T>A (p.Trp1694Arg) | |
| 3 | g.38551236G>A | CA433331987 | SCN5A | c.5133C>T (p.Gly1711=) c.5136C>T (p.Gly1712=) c.5082C>T (p.Gly1694=) c.4974C>T (p.Gly1658=) c.5037C>T (p.Gly1679=) c.5007C>T (p.Gly1669=) c.5079C>T (p.Gly1693=) | |
| 3 | g.38551236G>C | CA433331990 | SCN5A | c.5133C>G (p.Gly1711=) c.5136C>G (p.Gly1712=) c.5082C>G (p.Gly1694=) c.4974C>G (p.Gly1658=) c.5037C>G (p.Gly1679=) c.5007C>G (p.Gly1669=) c.5079C>G (p.Gly1693=) | |
| 3 | g.38551236G>T | CA433331992 | SCN5A | c.5133C>A (p.Gly1711=) c.5136C>A (p.Gly1712=) c.5082C>A (p.Gly1694=) c.4974C>A (p.Gly1658=) c.5037C>A (p.Gly1679=) c.5007C>A (p.Gly1669=) c.5079C>A (p.Gly1693=) | |
| 3 | g.38551237C>A | CA352142231 | SCN5A | c.5132G>T (p.Gly1711Val) c.5135G>T (p.Gly1712Val) c.5081G>T (p.Gly1694Val) c.4973G>T (p.Gly1658Val) c.5036G>T (p.Gly1679Val) c.5006G>T (p.Gly1669Val) c.5078G>T (p.Gly1693Val) | |
| 3 | g.38551237C>G | CA352142232 | SCN5A | c.5132G>C (p.Gly1711Ala) c.5135G>C (p.Gly1712Ala) c.5081G>C (p.Gly1694Ala) c.4973G>C (p.Gly1658Ala) c.5036G>C (p.Gly1679Ala) c.5006G>C (p.Gly1669Ala) c.5078G>C (p.Gly1693Ala) | |
| 3 | g.38551237C>T | CA352142233 | SCN5A | c.5132G>A (p.Gly1711Asp) c.5135G>A (p.Gly1712Asp) c.5081G>A (p.Gly1694Asp) c.4973G>A (p.Gly1658Asp) c.5036G>A (p.Gly1679Asp) c.5006G>A (p.Gly1669Asp) c.5078G>A (p.Gly1693Asp) | ClinVar gnomAD v4 |
| 3 | g.38551238C>A | CA352142238 | SCN5A | c.5131G>T (p.Gly1711Cys) c.5134G>T (p.Gly1712Cys) c.5080G>T (p.Gly1694Cys) c.4972G>T (p.Gly1658Cys) c.5035G>T (p.Gly1679Cys) c.5005G>T (p.Gly1669Cys) c.5077G>T (p.Gly1693Cys) | |
| 3 | g.38551238C= | CA1358557661 | SCN5A | c.5131G= (p.Gly1711=) c.5134G= (p.Gly1712=) c.5080G= (p.Gly1694=) c.4972G= (p.Gly1658=) c.5035G= (p.Gly1679=) c.5005G= (p.Gly1669=) c.5077G= (p.Gly1693=) | |
| 3 | g.38551238C>G | CA352142237 | SCN5A | c.5131G>C (p.Gly1711Arg) c.5134G>C (p.Gly1712Arg) c.5080G>C (p.Gly1694Arg) c.4972G>C (p.Gly1658Arg) c.5035G>C (p.Gly1679Arg) c.5005G>C (p.Gly1669Arg) c.5077G>C (p.Gly1693Arg) | |
| 3 | g.38551238C>T | CA018920 | SCN5A | c.5131G>A (p.Gly1711Ser) c.5134G>A (p.Gly1712Ser) c.5080G>A (p.Gly1694Ser) c.4972G>A (p.Gly1658Ser) c.5035G>A (p.Gly1679Ser) c.5005G>A (p.Gly1669Ser) c.5077G>A (p.Gly1693Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38551239G>A | CA064171 | SCN5A | c.5130C>T (p.Ala1710=) c.5133C>T (p.Ala1711=) c.5079C>T (p.Ala1693=) c.4971C>T (p.Ala1657=) c.5034C>T (p.Ala1678=) c.5004C>T (p.Ala1668=) c.5076C>T (p.Ala1692=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.38551239G>C | CA433331995 | SCN5A | c.5130C>G (p.Ala1710=) c.5133C>G (p.Ala1711=) c.5079C>G (p.Ala1693=) c.4971C>G (p.Ala1657=) c.5034C>G (p.Ala1678=) c.5004C>G (p.Ala1668=) c.5076C>G (p.Ala1692=) | ClinVar |
| 3 | g.38551239G= | CA1358557666 | SCN5A | c.5130C= (p.Ala1710=) c.5133C= (p.Ala1711=) c.5079C= (p.Ala1693=) c.4971C= (p.Ala1657=) c.5034C= (p.Ala1678=) c.5004C= (p.Ala1668=) c.5076C= (p.Ala1692=) | |
| 3 | g.38551239G>T | CA433331997 | SCN5A | c.5130C>A (p.Ala1710=) c.5133C>A (p.Ala1711=) c.5079C>A (p.Ala1693=) c.4971C>A (p.Ala1657=) c.5034C>A (p.Ala1678=) c.5004C>A (p.Ala1668=) c.5076C>A (p.Ala1692=) | |
| 3 | g.38551240G>A | CA352142242 | SCN5A | c.5129C>T (p.Ala1710Val) c.5132C>T (p.Ala1711Val) c.5078C>T (p.Ala1693Val) c.4970C>T (p.Ala1657Val) c.5033C>T (p.Ala1678Val) c.5003C>T (p.Ala1668Val) c.5075C>T (p.Ala1692Val) | |
| 3 | g.38551240G>C | CA352142243 | SCN5A | c.5129C>G (p.Ala1710Gly) c.5132C>G (p.Ala1711Gly) c.5078C>G (p.Ala1693Gly) c.4970C>G (p.Ala1657Gly) c.5033C>G (p.Ala1678Gly) c.5003C>G (p.Ala1668Gly) c.5075C>G (p.Ala1692Gly) | |
| 3 | g.38551240G>T | CA352142245 | SCN5A | c.5129C>A (p.Ala1710Asp) c.5132C>A (p.Ala1711Asp) c.5078C>A (p.Ala1693Asp) c.4970C>A (p.Ala1657Asp) c.5033C>A (p.Ala1678Asp) c.5003C>A (p.Ala1668Asp) c.5075C>A (p.Ala1692Asp) | |
| 3 | g.38551240_38551241delinsGC | CA1358557671 | SCN5A | c.5128_5129delinsGC (p.Ala1710=) c.5131_5132delinsGC (p.Ala1711=) c.5077_5078delinsGC (p.Ala1693=) c.4969_4970delinsGC (p.Ala1657=) c.5032_5033delinsGC (p.Ala1678=) c.5002_5003delinsGC (p.Ala1668=) c.5074_5075delinsGC (p.Ala1692=) | |
| 3 | g.38551241C>A | CA352142248 | SCN5A | c.5128G>T (p.Ala1710Ser) c.5131G>T (p.Ala1711Ser) c.5077G>T (p.Ala1693Ser) c.4969G>T (p.Ala1657Ser) c.5032G>T (p.Ala1678Ser) c.5002G>T (p.Ala1668Ser) c.5074G>T (p.Ala1692Ser) | dbSNP |
| 3 | g.38551241C= | CA1358557676 | SCN5A | c.5128G= (p.Ala1710=) c.5131G= (p.Ala1711=) c.5077G= (p.Ala1693=) c.4969G= (p.Ala1657=) c.5032G= (p.Ala1678=) c.5002G= (p.Ala1668=) c.5074G= (p.Ala1692=) | |
| 3 | g.38551241C>G | CA352142249 | SCN5A | c.5128G>C (p.Ala1710Pro) c.5131G>C (p.Ala1711Pro) c.5077G>C (p.Ala1693Pro) c.4969G>C (p.Ala1657Pro) c.5032G>C (p.Ala1678Pro) c.5002G>C (p.Ala1668Pro) c.5074G>C (p.Ala1692Pro) | |
| 3 | g.38551241C>T | CA352142251 | SCN5A | c.5128G>A (p.Ala1710Thr) c.5131G>A (p.Ala1711Thr) c.5077G>A (p.Ala1693Thr) c.4969G>A (p.Ala1657Thr) c.5032G>A (p.Ala1678Thr) c.5002G>A (p.Ala1668Thr) c.5074G>A (p.Ala1692Thr) | ClinVar |
| 3 | g.38551242del | CA018914 | SCN5A | c.5128del (p.Ala1710ProfsTer?) c.5131del (p.Ala1711ProfsTer?) c.5077del (p.Ala1693ProfsTer?) c.4969del (p.Ala1657ProfsTer?) c.5032del (p.Ala1678ProfsTer?) c.5002del (p.Ala1668ProfsTer?) c.5074del (p.Ala1692ProfsTer?) | ClinVar dbSNP |
| 3 | g.38551242C>A | CA433332000 | SCN5A | c.5127G>T (p.Ser1709=) c.5130G>T (p.Ser1710=) c.5076G>T (p.Ser1692=) c.4968G>T (p.Ser1656=) c.5031G>T (p.Ser1677=) c.5001G>T (p.Ser1667=) c.5073G>T (p.Ser1691=) | |
| 3 | g.38551242C= | CA1358557682 | SCN5A | c.5127G= (p.Ser1709=) c.5130G= (p.Ser1710=) c.5076G= (p.Ser1692=) c.4968G= (p.Ser1656=) c.5031G= (p.Ser1677=) c.5001G= (p.Ser1667=) c.5073G= (p.Ser1691=) | |
| 3 | g.38551242C>G | CA433331999 | SCN5A | c.5127G>C (p.Ser1709=) c.5130G>C (p.Ser1710=) c.5076G>C (p.Ser1692=) c.4968G>C (p.Ser1656=) c.5031G>C (p.Ser1677=) c.5001G>C (p.Ser1667=) c.5073G>C (p.Ser1691=) | |
| 3 | g.38551242C>T | CA064164 | SCN5A | c.5127G>A (p.Ser1709=) c.5130G>A (p.Ser1710=) c.5076G>A (p.Ser1692=) c.4968G>A (p.Ser1656=) c.5031G>A (p.Ser1677=) c.5001G>A (p.Ser1667=) c.5073G>A (p.Ser1691=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38551243G>A | CA018910 | SCN5A | c.5126C>T (p.Ser1709Leu) c.5129C>T (p.Ser1710Leu) c.5075C>T (p.Ser1692Leu) c.4967C>T (p.Ser1656Leu) c.5030C>T (p.Ser1677Leu) c.5000C>T (p.Ser1667Leu) c.5072C>T (p.Ser1691Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38551243G>C | CA352142256 | SCN5A | c.5126C>G (p.Ser1709Trp) c.5129C>G (p.Ser1710Trp) c.5075C>G (p.Ser1692Trp) c.4967C>G (p.Ser1656Trp) c.5030C>G (p.Ser1677Trp) c.5000C>G (p.Ser1667Trp) c.5072C>G (p.Ser1691Trp) | |
| 3 | g.38551243G= | CA1358557685 | SCN5A | c.5126C= (p.Ser1709=) c.5129C= (p.Ser1710=) c.5075C= (p.Ser1692=) c.4967C= (p.Ser1656=) c.5030C= (p.Ser1677=) c.5000C= (p.Ser1667=) c.5072C= (p.Ser1691=) | |
| 3 | g.38551243G>T | CA352142258 | SCN5A | c.5126C>A (p.Ser1709Ter) c.5129C>A (p.Ser1710Ter) c.5075C>A (p.Ser1692Ter) c.4967C>A (p.Ser1656Ter) c.5030C>A (p.Ser1677Ter) c.5000C>A (p.Ser1667Ter) c.5072C>A (p.Ser1691Ter) |