| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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) |