Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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) | |
3 | g.38551244A>C | CA352142263 | SCN5A | c.5125T>G (p.Ser1709Ala) c.5128T>G (p.Ser1710Ala) c.5074T>G (p.Ser1692Ala) c.4966T>G (p.Ser1656Ala) c.5029T>G (p.Ser1677Ala) c.4999T>G (p.Ser1667Ala) c.5071T>G (p.Ser1691Ala) | |
3 | g.38551244A>G | CA352142262 | SCN5A | c.5125T>C (p.Ser1709Pro) c.5128T>C (p.Ser1710Pro) c.5074T>C (p.Ser1692Pro) c.4966T>C (p.Ser1656Pro) c.5029T>C (p.Ser1677Pro) c.4999T>C (p.Ser1667Pro) c.5071T>C (p.Ser1691Pro) | |
3 | g.38551244A>T | CA352142260 | SCN5A | c.5125T>A (p.Ser1709Thr) c.5128T>A (p.Ser1710Thr) c.5074T>A (p.Ser1692Thr) c.4966T>A (p.Ser1656Thr) c.5029T>A (p.Ser1677Thr) c.4999T>A (p.Ser1667Thr) c.5071T>A (p.Ser1691Thr) | |
3 | g.38551245C>A | CA433332003 | SCN5A | c.5124G>T (p.Thr1708=) c.5127G>T (p.Thr1709=) c.5073G>T (p.Thr1691=) c.4965G>T (p.Thr1655=) c.5028G>T (p.Thr1676=) c.4998G>T (p.Thr1666=) c.5070G>T (p.Thr1690=) | |
3 | g.38551245C= | CA1358557690 | SCN5A | c.5124G= (p.Thr1708=) c.5127G= (p.Thr1709=) c.5073G= (p.Thr1691=) c.4965G= (p.Thr1655=) c.5028G= (p.Thr1676=) c.4998G= (p.Thr1666=) c.5070G= (p.Thr1690=) | |
3 | g.38551245C>G | CA433332004 | SCN5A | c.5124G>C (p.Thr1708=) c.5127G>C (p.Thr1709=) c.5073G>C (p.Thr1691=) c.4965G>C (p.Thr1655=) c.5028G>C (p.Thr1676=) c.4998G>C (p.Thr1666=) c.5070G>C (p.Thr1690=) | gnomAD v4 |
3 | g.38551245C>T | CA064154 | SCN5A | c.5124G>A (p.Thr1708=) c.5127G>A (p.Thr1709=) c.5073G>A (p.Thr1691=) c.4965G>A (p.Thr1655=) c.5028G>A (p.Thr1676=) c.4998G>A (p.Thr1666=) c.5070G>A (p.Thr1690=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38551246G>A | CA018904 | SCN5A | c.5123C>T (p.Thr1708Met) c.5126C>T (p.Thr1709Met) c.5072C>T (p.Thr1691Met) c.4964C>T (p.Thr1655Met) c.5027C>T (p.Thr1676Met) c.4997C>T (p.Thr1666Met) c.5069C>T (p.Thr1690Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.38551246G>C | CA018895 | SCN5A | c.5123C>G (p.Thr1708Arg) c.5126C>G (p.Thr1709Arg) c.5072C>G (p.Thr1691Arg) c.4964C>G (p.Thr1655Arg) c.5027C>G (p.Thr1676Arg) c.4997C>G (p.Thr1666Arg) c.5069C>G (p.Thr1690Arg) | ClinVar dbSNP |
3 | g.38551246G= | CA1358557694 | SCN5A | c.5123C= (p.Thr1708=) c.5126C= (p.Thr1709=) c.5072C= (p.Thr1691=) c.4964C= (p.Thr1655=) c.5027C= (p.Thr1676=) c.4997C= (p.Thr1666=) c.5069C= (p.Thr1690=) | |
3 | g.38551246G>T | CA352142267 | SCN5A | c.5123C>A (p.Thr1708Lys) c.5126C>A (p.Thr1709Lys) c.5072C>A (p.Thr1691Lys) c.4964C>A (p.Thr1655Lys) c.5027C>A (p.Thr1676Lys) c.4997C>A (p.Thr1666Lys) c.5069C>A (p.Thr1690Lys) | |
3 | g.38551249_38551251del | CA2580614208 | SCN5A | c.5121_5123del (p.Thr1708del) c.5124_5126del (p.Thr1709del) c.5070_5072del (p.Thr1691del) c.4962_4964del (p.Thr1655del) c.5025_5027del (p.Thr1676del) c.4995_4997del (p.Thr1666del) c.5067_5069del (p.Thr1690del) | ClinVar gnomAD v4 |
3 | g.38551247T>A | CA352142270 | SCN5A | c.5122A>T (p.Thr1708Ser) c.5125A>T (p.Thr1709Ser) c.5071A>T (p.Thr1691Ser) c.4963A>T (p.Thr1655Ser) c.5026A>T (p.Thr1676Ser) c.4996A>T (p.Thr1666Ser) c.5068A>T (p.Thr1690Ser) | |
3 | g.38551247T>C | CA352142272 | SCN5A | c.5122A>G (p.Thr1708Ala) c.5125A>G (p.Thr1709Ala) c.5071A>G (p.Thr1691Ala) c.4963A>G (p.Thr1655Ala) c.5026A>G (p.Thr1676Ala) c.4996A>G (p.Thr1666Ala) c.5068A>G (p.Thr1690Ala) | |
3 | g.38551247T>G | CA352142273 | SCN5A | c.5122A>C (p.Thr1708Pro) c.5125A>C (p.Thr1709Pro) c.5071A>C (p.Thr1691Pro) c.4963A>C (p.Thr1655Pro) c.5026A>C (p.Thr1676Pro) c.4996A>C (p.Thr1666Pro) c.5068A>C (p.Thr1690Pro) | |
3 | g.38551248G>A | CA433332008 | SCN5A | c.5121C>T (p.Thr1707=) c.5124C>T (p.Thr1708=) c.5070C>T (p.Thr1690=) c.4962C>T (p.Thr1654=) c.5025C>T (p.Thr1675=) c.4995C>T (p.Thr1665=) c.5067C>T (p.Thr1689=) | |
3 | g.38551248G>C | CA433332009 | SCN5A | c.5121C>G (p.Thr1707=) c.5124C>G (p.Thr1708=) c.5070C>G (p.Thr1690=) c.4962C>G (p.Thr1654=) c.5025C>G (p.Thr1675=) c.4995C>G (p.Thr1665=) c.5067C>G (p.Thr1689=) | dbSNP |
3 | g.38551248G= | CA1358557711 | SCN5A | c.5121C= (p.Thr1707=) c.5124C= (p.Thr1708=) c.5070C= (p.Thr1690=) c.4962C= (p.Thr1654=) c.5025C= (p.Thr1675=) c.4995C= (p.Thr1665=) c.5067C= (p.Thr1689=) | |
3 | g.38551248G>T | CA433332010 | SCN5A | c.5121C>A (p.Thr1707=) c.5124C>A (p.Thr1708=) c.5070C>A (p.Thr1690=) c.4962C>A (p.Thr1654=) c.5025C>A (p.Thr1675=) c.4995C>A (p.Thr1665=) c.5067C>A (p.Thr1689=) | |
3 | g.38551249G>A | CA352142276 | SCN5A | c.5120C>T (p.Thr1707Ile) c.5123C>T (p.Thr1708Ile) c.5069C>T (p.Thr1690Ile) c.4961C>T (p.Thr1654Ile) c.5024C>T (p.Thr1675Ile) c.4994C>T (p.Thr1665Ile) c.5066C>T (p.Thr1689Ile) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.38551249G>C | CA352142278 | SCN5A | c.5120C>G (p.Thr1707Ser) c.5123C>G (p.Thr1708Ser) c.5069C>G (p.Thr1690Ser) c.4961C>G (p.Thr1654Ser) c.5024C>G (p.Thr1675Ser) c.4994C>G (p.Thr1665Ser) c.5066C>G (p.Thr1689Ser) | |
3 | g.38551249G= | CA1358557714 | SCN5A | c.5120C= (p.Thr1707=) c.5123C= (p.Thr1708=) c.5069C= (p.Thr1690=) c.4961C= (p.Thr1654=) c.5024C= (p.Thr1675=) c.4994C= (p.Thr1665=) c.5066C= (p.Thr1689=) | |
3 | g.38551249G>T | CA352142280 | SCN5A | c.5120C>A (p.Thr1707Asn) c.5123C>A (p.Thr1708Asn) c.5069C>A (p.Thr1690Asn) c.4961C>A (p.Thr1654Asn) c.5024C>A (p.Thr1675Asn) c.4994C>A (p.Thr1665Asn) c.5066C>A (p.Thr1689Asn) | ClinVar |
3 | g.38551250T>A | CA352142282 | SCN5A | c.5119A>T (p.Thr1707Ser) c.5122A>T (p.Thr1708Ser) c.5068A>T (p.Thr1690Ser) c.4960A>T (p.Thr1654Ser) c.5023A>T (p.Thr1675Ser) c.4993A>T (p.Thr1665Ser) c.5065A>T (p.Thr1689Ser) | |
3 | g.38551250T>C | CA352142284 | SCN5A | c.5119A>G (p.Thr1707Ala) c.5122A>G (p.Thr1708Ala) c.5068A>G (p.Thr1690Ala) c.4960A>G (p.Thr1654Ala) c.5023A>G (p.Thr1675Ala) c.4993A>G (p.Thr1665Ala) c.5065A>G (p.Thr1689Ala) | |
3 | g.38551250T>G | CA352142286 | SCN5A | c.5119A>C (p.Thr1707Pro) c.5122A>C (p.Thr1708Pro) c.5068A>C (p.Thr1690Pro) c.4960A>C (p.Thr1654Pro) c.5023A>C (p.Thr1675Pro) c.4993A>C (p.Thr1665Pro) c.5065A>C (p.Thr1689Pro) | |
3 | g.38551251G>A | CA064141 | SCN5A | c.5118C>T (p.Ile1706=) c.5121C>T (p.Ile1707=) c.5067C>T (p.Ile1689=) c.4959C>T (p.Ile1653=) c.5022C>T (p.Ile1674=) c.4992C>T (p.Ile1664=) c.5064C>T (p.Ile1688=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38551251G>C | CA352142289 | SCN5A | c.5118C>G (p.Ile1706Met) c.5121C>G (p.Ile1707Met) c.5067C>G (p.Ile1689Met) c.4959C>G (p.Ile1653Met) c.5022C>G (p.Ile1674Met) c.4992C>G (p.Ile1664Met) c.5064C>G (p.Ile1688Met) | |
3 | g.38551251G= | CA1358557716 | SCN5A | c.5118C= (p.Ile1706=) c.5121C= (p.Ile1707=) c.5067C= (p.Ile1689=) c.4959C= (p.Ile1653=) c.5022C= (p.Ile1674=) c.4992C= (p.Ile1664=) c.5064C= (p.Ile1688=) | |
3 | g.38551251G>T | CA433332013 | SCN5A | c.5118C>A (p.Ile1706=) c.5121C>A (p.Ile1707=) c.5067C>A (p.Ile1689=) c.4959C>A (p.Ile1653=) c.5022C>A (p.Ile1674=) c.4992C>A (p.Ile1664=) c.5064C>A (p.Ile1688=) | |
3 | g.38551252A>C | CA352142291 | SCN5A | c.5117T>G (p.Ile1706Ser) c.5120T>G (p.Ile1707Ser) c.5066T>G (p.Ile1689Ser) c.4958T>G (p.Ile1653Ser) c.5021T>G (p.Ile1674Ser) c.4991T>G (p.Ile1664Ser) c.5063T>G (p.Ile1688Ser) | |
3 | g.38551252A>G | CA352142294 | SCN5A | c.5117T>C (p.Ile1706Thr) c.5120T>C (p.Ile1707Thr) c.5066T>C (p.Ile1689Thr) c.4958T>C (p.Ile1653Thr) c.5021T>C (p.Ile1674Thr) c.4991T>C (p.Ile1664Thr) c.5063T>C (p.Ile1688Thr) | |
3 | g.38551252A>T | CA352142292 | SCN5A | c.5117T>A (p.Ile1706Asn) c.5120T>A (p.Ile1707Asn) c.5066T>A (p.Ile1689Asn) c.4958T>A (p.Ile1653Asn) c.5021T>A (p.Ile1674Asn) c.4991T>A (p.Ile1664Asn) c.5063T>A (p.Ile1688Asn) | |
3 | g.38551253T>A | CA352142296 | SCN5A | c.5116A>T (p.Ile1706Phe) c.5119A>T (p.Ile1707Phe) c.5065A>T (p.Ile1689Phe) c.4957A>T (p.Ile1653Phe) c.5020A>T (p.Ile1674Phe) c.4990A>T (p.Ile1664Phe) c.5062A>T (p.Ile1688Phe) | |
3 | g.38551253T>C | CA72938119 | SCN5A | c.5116A>G (p.Ile1706Val) c.5119A>G (p.Ile1707Val) c.5065A>G (p.Ile1689Val) c.4957A>G (p.Ile1653Val) c.5020A>G (p.Ile1674Val) c.4990A>G (p.Ile1664Val) c.5062A>G (p.Ile1688Val) | dbSNP gnomAD v4 |
3 | g.38551253T>G | CA352142299 | SCN5A | c.5116A>C (p.Ile1706Leu) c.5119A>C (p.Ile1707Leu) c.5065A>C (p.Ile1689Leu) c.4957A>C (p.Ile1653Leu) c.5020A>C (p.Ile1674Leu) c.4990A>C (p.Ile1664Leu) c.5062A>C (p.Ile1688Leu) | |
3 | g.38551253T= | CA1358557719 | SCN5A | c.5116A= (p.Ile1706=) c.5119A= (p.Ile1707=) c.5065A= (p.Ile1689=) c.4957A= (p.Ile1653=) c.5020A= (p.Ile1674=) c.4990A= (p.Ile1664=) c.5062A= (p.Ile1688=) | |
3 | g.38551254C>A | CA352142300 | SCN5A | c.5115G>T (p.Gln1705His) c.5118G>T (p.Gln1706His) c.5064G>T (p.Gln1688His) c.4956G>T (p.Gln1652His) c.5019G>T (p.Gln1673His) c.4989G>T (p.Gln1663His) c.5061G>T (p.Gln1687His) | ClinVar |
3 | g.38551254C= | CA1358557724 | SCN5A | c.5115G= (p.Gln1705=) c.5118G= (p.Gln1706=) c.5064G= (p.Gln1688=) c.4956G= (p.Gln1652=) c.5019G= (p.Gln1673=) c.4989G= (p.Gln1663=) c.5061G= (p.Gln1687=) | |
3 | g.38551254C>G | CA018890 | SCN5A | c.5115G>C (p.Gln1705His) c.5118G>C (p.Gln1706His) c.5064G>C (p.Gln1688His) c.4956G>C (p.Gln1652His) c.5019G>C (p.Gln1673His) c.4989G>C (p.Gln1663His) c.5061G>C (p.Gln1687His) | ClinVar dbSNP |
3 | g.38551254C>T | CA433332015 | SCN5A | c.5115G>A (p.Gln1705=) c.5118G>A (p.Gln1706=) c.5064G>A (p.Gln1688=) c.4956G>A (p.Gln1652=) c.5019G>A (p.Gln1673=) c.4989G>A (p.Gln1663=) c.5061G>A (p.Gln1687=) | ClinVar dbSNP |
3 | g.38551255T>A | CA352142303 | SCN5A | c.5114A>T (p.Gln1705Leu) c.5117A>T (p.Gln1706Leu) c.5063A>T (p.Gln1688Leu) c.4955A>T (p.Gln1652Leu) c.5018A>T (p.Gln1673Leu) c.4988A>T (p.Gln1663Leu) c.5060A>T (p.Gln1687Leu) | |
3 | g.38551255T>C | CA352142305 | SCN5A | c.5114A>G (p.Gln1705Arg) c.5117A>G (p.Gln1706Arg) c.5063A>G (p.Gln1688Arg) c.4955A>G (p.Gln1652Arg) c.5018A>G (p.Gln1673Arg) c.4988A>G (p.Gln1663Arg) c.5060A>G (p.Gln1687Arg) | |
3 | g.38551255T>G | CA352142306 | SCN5A | c.5114A>C (p.Gln1705Pro) c.5117A>C (p.Gln1706Pro) c.5063A>C (p.Gln1688Pro) c.4955A>C (p.Gln1652Pro) c.5018A>C (p.Gln1673Pro) c.4988A>C (p.Gln1663Pro) c.5060A>C (p.Gln1687Pro) | |
3 | g.38551256G>A | CA352142307 | SCN5A | c.5113C>T (p.Gln1705Ter) c.5116C>T (p.Gln1706Ter) c.5062C>T (p.Gln1688Ter) c.4954C>T (p.Gln1652Ter) c.5017C>T (p.Gln1673Ter) c.4987C>T (p.Gln1663Ter) c.5059C>T (p.Gln1687Ter) | |
3 | g.38551256G>C | CA352142308 | SCN5A | c.5113C>G (p.Gln1705Glu) c.5116C>G (p.Gln1706Glu) c.5062C>G (p.Gln1688Glu) c.4954C>G (p.Gln1652Glu) c.5017C>G (p.Gln1673Glu) c.4987C>G (p.Gln1663Glu) c.5059C>G (p.Gln1687Glu) | |
3 | g.38551256G>T | CA352142309 | SCN5A | c.5113C>A (p.Gln1705Lys) c.5116C>A (p.Gln1706Lys) c.5062C>A (p.Gln1688Lys) c.4954C>A (p.Gln1652Lys) c.5017C>A (p.Gln1673Lys) c.4987C>A (p.Gln1663Lys) c.5059C>A (p.Gln1687Lys) | |
3 | g.38551257G>A | CA433332016 | SCN5A | c.5112C>T (p.Phe1704=) c.5115C>T (p.Phe1705=) c.5061C>T (p.Phe1687=) c.4953C>T (p.Phe1651=) c.5016C>T (p.Phe1672=) c.4986C>T (p.Phe1662=) c.5058C>T (p.Phe1686=) | dbSNP |
3 | g.38551257G>C | CA352142312 | SCN5A | c.5112C>G (p.Phe1704Leu) c.5115C>G (p.Phe1705Leu) c.5061C>G (p.Phe1687Leu) c.4953C>G (p.Phe1651Leu) c.5016C>G (p.Phe1672Leu) c.4986C>G (p.Phe1662Leu) c.5058C>G (p.Phe1686Leu) | gnomAD v4 |
3 | g.38551257G>T | CA352142310 | SCN5A | c.5112C>A (p.Phe1704Leu) c.5115C>A (p.Phe1705Leu) c.5061C>A (p.Phe1687Leu) c.4953C>A (p.Phe1651Leu) c.5016C>A (p.Phe1672Leu) c.4986C>A (p.Phe1662Leu) c.5058C>A (p.Phe1686Leu) | |
3 | g.38551258A= | CA1358557730 | SCN5A | c.5111T= (p.Phe1704=) c.5114T= (p.Phe1705=) c.5060T= (p.Phe1687=) c.4952T= (p.Phe1651=) c.5015T= (p.Phe1672=) c.4985T= (p.Phe1662=) c.5057T= (p.Phe1686=) | |
3 | g.38551258A>C | CA352142313 | SCN5A | c.5111T>G (p.Phe1704Cys) c.5114T>G (p.Phe1705Cys) c.5060T>G (p.Phe1687Cys) c.4952T>G (p.Phe1651Cys) c.5015T>G (p.Phe1672Cys) c.4985T>G (p.Phe1662Cys) c.5057T>G (p.Phe1686Cys) | |
3 | g.38551258A>G | CA018886 | SCN5A | c.5111T>C (p.Phe1704Ser) c.5114T>C (p.Phe1705Ser) c.5060T>C (p.Phe1687Ser) c.4952T>C (p.Phe1651Ser) c.5015T>C (p.Phe1672Ser) c.4985T>C (p.Phe1662Ser) c.5057T>C (p.Phe1686Ser) | ClinVar dbSNP |
3 | g.38551258A>T | CA352142315 | SCN5A | c.5111T>A (p.Phe1704Tyr) c.5114T>A (p.Phe1705Tyr) c.5060T>A (p.Phe1687Tyr) c.4952T>A (p.Phe1651Tyr) c.5015T>A (p.Phe1672Tyr) c.4985T>A (p.Phe1662Tyr) c.5057T>A (p.Phe1686Tyr) | |
3 | g.38551259A= | CA1358557732 | SCN5A | c.5110T= (p.Phe1704=) c.5113T= (p.Phe1705=) c.5059T= (p.Phe1687=) c.4951T= (p.Phe1651=) c.5014T= (p.Phe1672=) c.4984T= (p.Phe1662=) c.5056T= (p.Phe1686=) | |
3 | g.38551259A>C | CA352142317 | SCN5A | c.5110T>G (p.Phe1704Val) c.5113T>G (p.Phe1705Val) c.5059T>G (p.Phe1687Val) c.4951T>G (p.Phe1651Val) c.5014T>G (p.Phe1672Val) c.4984T>G (p.Phe1662Val) c.5056T>G (p.Phe1686Val) | dbSNP |
3 | g.38551259A>G | CA352142318 | SCN5A | c.5110T>C (p.Phe1704Leu) c.5113T>C (p.Phe1705Leu) c.5059T>C (p.Phe1687Leu) c.4951T>C (p.Phe1651Leu) c.5014T>C (p.Phe1672Leu) c.4984T>C (p.Phe1662Leu) c.5056T>C (p.Phe1686Leu) | |
3 | g.38551259A>T | CA352142320 | SCN5A | c.5110T>A (p.Phe1704Ile) c.5113T>A (p.Phe1705Ile) c.5059T>A (p.Phe1687Ile) c.4951T>A (p.Phe1651Ile) c.5014T>A (p.Phe1672Ile) c.4984T>A (p.Phe1662Ile) c.5056T>A (p.Phe1686Ile) | |
3 | g.38551260G>A | CA064136 | SCN5A | c.5109C>T (p.Leu1703=) c.5112C>T (p.Leu1704=) c.5058C>T (p.Leu1686=) c.4950C>T (p.Leu1650=) c.5013C>T (p.Leu1671=) c.4983C>T (p.Leu1661=) c.5055C>T (p.Leu1685=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38551260G>C | CA433332018 | SCN5A | c.5109C>G (p.Leu1703=) c.5112C>G (p.Leu1704=) c.5058C>G (p.Leu1686=) c.4950C>G (p.Leu1650=) c.5013C>G (p.Leu1671=) c.4983C>G (p.Leu1661=) c.5055C>G (p.Leu1685=) | |
3 | g.38551260G= | CA1358557736 | SCN5A | c.5109C= (p.Leu1703=) c.5112C= (p.Leu1704=) c.5058C= (p.Leu1686=) c.4950C= (p.Leu1650=) c.5013C= (p.Leu1671=) c.4983C= (p.Leu1661=) c.5055C= (p.Leu1685=) | |
3 | g.38551260G>T | CA433332017 | SCN5A | c.5109C>A (p.Leu1703=) c.5112C>A (p.Leu1704=) c.5058C>A (p.Leu1686=) c.4950C>A (p.Leu1650=) c.5013C>A (p.Leu1671=) c.4983C>A (p.Leu1661=) c.5055C>A (p.Leu1685=) | ClinVar dbSNP |
3 | g.38551261A= | CA1358557744 | SCN5A | c.5108T= (p.Leu1703=) c.5111T= (p.Leu1704=) c.5057T= (p.Leu1686=) c.4949T= (p.Leu1650=) c.5012T= (p.Leu1671=) c.4982T= (p.Leu1661=) c.5054T= (p.Leu1685=) | |
3 | g.38551261A>C | CA352142325 | SCN5A | c.5108T>G (p.Leu1703Arg) c.5111T>G (p.Leu1704Arg) c.5057T>G (p.Leu1686Arg) c.4949T>G (p.Leu1650Arg) c.5012T>G (p.Leu1671Arg) c.4982T>G (p.Leu1661Arg) c.5054T>G (p.Leu1685Arg) | |
3 | g.38551261A>G | CA352142321 | SCN5A | c.5108T>C (p.Leu1703Pro) c.5111T>C (p.Leu1704Pro) c.5057T>C (p.Leu1686Pro) c.4949T>C (p.Leu1650Pro) c.5012T>C (p.Leu1671Pro) c.4982T>C (p.Leu1661Pro) c.5054T>C (p.Leu1685Pro) | |
3 | g.38551261A>T | CA352142323 | SCN5A | c.5108T>A (p.Leu1703His) c.5111T>A (p.Leu1704His) c.5057T>A (p.Leu1686His) c.4949T>A (p.Leu1650His) c.5012T>A (p.Leu1671His) c.4982T>A (p.Leu1661His) c.5054T>A (p.Leu1685His) | ClinVar dbSNP |
3 | g.38551262G>A | CA352142327 | SCN5A | c.5107C>T (p.Leu1703Phe) c.5110C>T (p.Leu1704Phe) c.5056C>T (p.Leu1686Phe) c.4948C>T (p.Leu1650Phe) c.5011C>T (p.Leu1671Phe) c.4981C>T (p.Leu1661Phe) c.5053C>T (p.Leu1685Phe) | dbSNP |
3 | g.38551262G>C | CA352142329 | SCN5A | c.5107C>G (p.Leu1703Val) c.5110C>G (p.Leu1704Val) c.5056C>G (p.Leu1686Val) c.4948C>G (p.Leu1650Val) c.5011C>G (p.Leu1671Val) c.4981C>G (p.Leu1661Val) c.5053C>G (p.Leu1685Val) | |
3 | g.38551262G= | CA1358557748 | SCN5A | c.5107C= (p.Leu1703=) c.5110C= (p.Leu1704=) c.5056C= (p.Leu1686=) c.4948C= (p.Leu1650=) c.5011C= (p.Leu1671=) c.4981C= (p.Leu1661=) c.5053C= (p.Leu1685=) | |
3 | g.38551262G>T | CA352142330 | SCN5A | c.5107C>A (p.Leu1703Ile) c.5110C>A (p.Leu1704Ile) c.5056C>A (p.Leu1686Ile) c.4948C>A (p.Leu1650Ile) c.5011C>A (p.Leu1671Ile) c.4981C>A (p.Leu1661Ile) c.5053C>A (p.Leu1685Ile) | |
3 | g.38551263G>A | CA433332019 | SCN5A | c.5106C>T (p.Cys1702=) c.5109C>T (p.Cys1703=) c.5055C>T (p.Cys1685=) c.4947C>T (p.Cys1649=) c.5010C>T (p.Cys1670=) c.4980C>T (p.Cys1660=) c.5052C>T (p.Cys1684=) | |
3 | g.38551263G>C | CA352142333 | SCN5A | c.5106C>G (p.Cys1702Trp) c.5109C>G (p.Cys1703Trp) c.5055C>G (p.Cys1685Trp) c.4947C>G (p.Cys1649Trp) c.5010C>G (p.Cys1670Trp) c.4980C>G (p.Cys1660Trp) c.5052C>G (p.Cys1684Trp) | |
3 | g.38551263G>T | CA352142334 | SCN5A | c.5106C>A (p.Cys1702Ter) c.5109C>A (p.Cys1703Ter) c.5055C>A (p.Cys1685Ter) c.4947C>A (p.Cys1649Ter) c.5010C>A (p.Cys1670Ter) c.4980C>A (p.Cys1660Ter) c.5052C>A (p.Cys1684Ter) | |
3 | g.38551263_38551264delinsAA | CA2499216729 | SCN5A | c.5105_5106delinsTT (p.Cys1702Phe) c.5108_5109delinsTT (p.Cys1703Phe) c.5054_5055delinsTT (p.Cys1685Phe) c.4946_4947delinsTT (p.Cys1649Phe) c.5009_5010delinsTT (p.Cys1670Phe) c.4979_4980delinsTT (p.Cys1660Phe) c.5051_5052delinsTT (p.Cys1684Phe) | ClinVar dbSNP |
3 | g.38551264C>A | CA352142336 | SCN5A | c.5105G>T (p.Cys1702Phe) c.5108G>T (p.Cys1703Phe) c.5054G>T (p.Cys1685Phe) c.4946G>T (p.Cys1649Phe) c.5009G>T (p.Cys1670Phe) c.4979G>T (p.Cys1660Phe) c.5051G>T (p.Cys1684Phe) | |
3 | g.38551264C= | CA1358557752 | SCN5A | c.5105G= (p.Cys1702=) c.5108G= (p.Cys1703=) c.5054G= (p.Cys1685=) c.4946G= (p.Cys1649=) c.5009G= (p.Cys1670=) c.4979G= (p.Cys1660=) c.5051G= (p.Cys1684=) | |
3 | g.38551264C>G | CA352142339 | SCN5A | c.5105G>C (p.Cys1702Ser) c.5108G>C (p.Cys1703Ser) c.5054G>C (p.Cys1685Ser) c.4946G>C (p.Cys1649Ser) c.5009G>C (p.Cys1670Ser) c.4979G>C (p.Cys1660Ser) c.5051G>C (p.Cys1684Ser) | |
3 | g.38551264C>T | CA018879 | SCN5A | c.5105G>A (p.Cys1702Tyr) c.5108G>A (p.Cys1703Tyr) c.5054G>A (p.Cys1685Tyr) c.4946G>A (p.Cys1649Tyr) c.5009G>A (p.Cys1670Tyr) c.4979G>A (p.Cys1660Tyr) c.5051G>A (p.Cys1684Tyr) | ClinVar dbSNP |
3 | g.38551265A>C | CA352142341 | SCN5A | c.5104T>G (p.Cys1702Gly) c.5107T>G (p.Cys1703Gly) c.5053T>G (p.Cys1685Gly) c.4945T>G (p.Cys1649Gly) c.5008T>G (p.Cys1670Gly) c.4978T>G (p.Cys1660Gly) c.5050T>G (p.Cys1684Gly) | |
3 | g.38551265A>G | CA352142342 | SCN5A | c.5104T>C (p.Cys1702Arg) c.5107T>C (p.Cys1703Arg) c.5053T>C (p.Cys1685Arg) c.4945T>C (p.Cys1649Arg) c.5008T>C (p.Cys1670Arg) c.4978T>C (p.Cys1660Arg) c.5050T>C (p.Cys1684Arg) | |
3 | g.38551265A>T | CA352142344 | SCN5A | c.5104T>A (p.Cys1702Ser) c.5107T>A (p.Cys1703Ser) c.5053T>A (p.Cys1685Ser) c.4945T>A (p.Cys1649Ser) c.5008T>A (p.Cys1670Ser) c.4978T>A (p.Cys1660Ser) c.5050T>A (p.Cys1684Ser) | |
3 | g.38551266C>A | CA433332020 | SCN5A | c.5103G>T (p.Leu1701=) c.5106G>T (p.Leu1702=) c.5052G>T (p.Leu1684=) c.4944G>T (p.Leu1648=) c.5007G>T (p.Leu1669=) c.4977G>T (p.Leu1659=) c.5049G>T (p.Leu1683=) | COSMIC COSMIC COSMIC |
3 | g.38551266C= | CA1358557756 | SCN5A | c.5103G= (p.Leu1701=) c.5106G= (p.Leu1702=) c.5052G= (p.Leu1684=) c.4944G= (p.Leu1648=) c.5007G= (p.Leu1669=) c.4977G= (p.Leu1659=) c.5049G= (p.Leu1683=) | |
3 | g.38551266C>G | CA433332022 | SCN5A | c.5103G>C (p.Leu1701=) c.5106G>C (p.Leu1702=) c.5052G>C (p.Leu1684=) c.4944G>C (p.Leu1648=) c.5007G>C (p.Leu1669=) c.4977G>C (p.Leu1659=) c.5049G>C (p.Leu1683=) | |
3 | g.38551266C>T | CA433332021 | SCN5A | c.5103G>A (p.Leu1701=) c.5106G>A (p.Leu1702=) c.5052G>A (p.Leu1684=) c.4944G>A (p.Leu1648=) c.5007G>A (p.Leu1669=) c.4977G>A (p.Leu1659=) c.5049G>A (p.Leu1683=) | dbSNP gnomAD v4 |
3 | g.38551267A>C | CA352142346 | SCN5A | c.5102T>G (p.Leu1701Arg) c.5105T>G (p.Leu1702Arg) c.5051T>G (p.Leu1684Arg) c.4943T>G (p.Leu1648Arg) c.5006T>G (p.Leu1669Arg) c.4976T>G (p.Leu1659Arg) c.5048T>G (p.Leu1683Arg) | |
3 | g.38551267A>G | CA352142348 | SCN5A | c.5102T>C (p.Leu1701Pro) c.5105T>C (p.Leu1702Pro) c.5051T>C (p.Leu1684Pro) c.4943T>C (p.Leu1648Pro) c.5006T>C (p.Leu1669Pro) c.4976T>C (p.Leu1659Pro) c.5048T>C (p.Leu1683Pro) | |
3 | g.38551267A>T | CA352142350 | SCN5A | c.5102T>A (p.Leu1701Gln) c.5105T>A (p.Leu1702Gln) c.5051T>A (p.Leu1684Gln) c.4943T>A (p.Leu1648Gln) c.5006T>A (p.Leu1669Gln) c.4976T>A (p.Leu1659Gln) c.5048T>A (p.Leu1683Gln) | |
3 | g.38551268G>A | CA433332023 | SCN5A | c.5101C>T (p.Leu1701=) c.5104C>T (p.Leu1702=) c.5050C>T (p.Leu1684=) c.4942C>T (p.Leu1648=) c.5005C>T (p.Leu1669=) c.4975C>T (p.Leu1659=) c.5047C>T (p.Leu1683=) | gnomAD v4 |
3 | g.38551268G>C | CA352142351 | SCN5A | c.5101C>G (p.Leu1701Val) c.5104C>G (p.Leu1702Val) c.5050C>G (p.Leu1684Val) c.4942C>G (p.Leu1648Val) c.5005C>G (p.Leu1669Val) c.4975C>G (p.Leu1659Val) c.5047C>G (p.Leu1683Val) | |
3 | g.38551268G>T | CA352142352 | SCN5A | c.5101C>A (p.Leu1701Met) c.5104C>A (p.Leu1702Met) c.5050C>A (p.Leu1684Met) c.4942C>A (p.Leu1648Met) c.5005C>A (p.Leu1669Met) c.4975C>A (p.Leu1659Met) c.5047C>A (p.Leu1683Met) | |
3 | g.38551269C>A | CA064131 | SCN5A | c.5100G>T (p.Met1700Ile) c.5103G>T (p.Met1701Ile) c.5049G>T (p.Met1683Ile) c.4941G>T (p.Met1647Ile) c.5004G>T (p.Met1668Ile) c.4974G>T (p.Met1658Ile) c.5046G>T (p.Met1682Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.38551269C= | CA1358557758 | SCN5A | c.5100G= (p.Met1700=) c.5103G= (p.Met1701=) c.5049G= (p.Met1683=) c.4941G= (p.Met1647=) c.5004G= (p.Met1668=) c.4974G= (p.Met1658=) c.5046G= (p.Met1682=) | |
3 | g.38551269C>G | CA352142354 | SCN5A | c.5100G>C (p.Met1700Ile) c.5103G>C (p.Met1701Ile) c.5049G>C (p.Met1683Ile) c.4941G>C (p.Met1647Ile) c.5004G>C (p.Met1668Ile) c.4974G>C (p.Met1658Ile) c.5046G>C (p.Met1682Ile) | |
3 | g.38551269C>T | CA352142355 | SCN5A | c.5100G>A (p.Met1700Ile) c.5103G>A (p.Met1701Ile) c.5049G>A (p.Met1683Ile) c.4941G>A (p.Met1647Ile) c.5004G>A (p.Met1668Ile) c.4974G>A (p.Met1658Ile) c.5046G>A (p.Met1682Ile) | |
3 | g.38551270A>C | CA352142361 | SCN5A | c.5099T>G (p.Met1700Arg) c.5102T>G (p.Met1701Arg) c.5048T>G (p.Met1683Arg) c.4940T>G (p.Met1647Arg) c.5003T>G (p.Met1668Arg) c.4973T>G (p.Met1658Arg) c.5045T>G (p.Met1682Arg) | |
3 | g.38551270A>G | CA352142360 | SCN5A | c.5099T>C (p.Met1700Thr) c.5102T>C (p.Met1701Thr) c.5048T>C (p.Met1683Thr) c.4940T>C (p.Met1647Thr) c.5003T>C (p.Met1668Thr) c.4973T>C (p.Met1658Thr) c.5045T>C (p.Met1682Thr) | |
3 | g.38551270A>T | CA352142358 | SCN5A | c.5099T>A (p.Met1700Lys) c.5102T>A (p.Met1701Lys) c.5048T>A (p.Met1683Lys) c.4940T>A (p.Met1647Lys) c.5003T>A (p.Met1668Lys) c.4973T>A (p.Met1658Lys) c.5045T>A (p.Met1682Lys) | |
3 | g.38551271T>A | CA352142363 | SCN5A | c.5098A>T (p.Met1700Leu) c.5101A>T (p.Met1701Leu) c.5047A>T (p.Met1683Leu) c.4939A>T (p.Met1647Leu) c.5002A>T (p.Met1668Leu) c.4972A>T (p.Met1658Leu) c.5044A>T (p.Met1682Leu) | |
3 | g.38551271T>C | CA352142367 | SCN5A | c.5098A>G (p.Met1700Val) c.5101A>G (p.Met1701Val) c.5047A>G (p.Met1683Val) c.4939A>G (p.Met1647Val) c.5002A>G (p.Met1668Val) c.4972A>G (p.Met1658Val) c.5044A>G (p.Met1682Val) | gnomAD v4 |
3 | g.38551271T>G | CA352142365 | SCN5A | c.5098A>C (p.Met1700Leu) c.5101A>C (p.Met1701Leu) c.5047A>C (p.Met1683Leu) c.4939A>C (p.Met1647Leu) c.5002A>C (p.Met1668Leu) c.4972A>C (p.Met1658Leu) c.5044A>C (p.Met1682Leu) | |
3 | g.38551272G>A | CA433332024 | SCN5A | c.5097C>T (p.Ser1699=) c.5100C>T (p.Ser1700=) c.5046C>T (p.Ser1682=) c.4938C>T (p.Ser1646=) c.5001C>T (p.Ser1667=) c.4971C>T (p.Ser1657=) c.5043C>T (p.Ser1681=) | |
3 | g.38551272G>C | CA352142369 | SCN5A | c.5097C>G (p.Ser1699Arg) c.5100C>G (p.Ser1700Arg) c.5046C>G (p.Ser1682Arg) c.4938C>G (p.Ser1646Arg) c.5001C>G (p.Ser1667Arg) c.4971C>G (p.Ser1657Arg) c.5043C>G (p.Ser1681Arg) | |
3 | g.38551272G>T | CA352142371 | SCN5A | c.5097C>A (p.Ser1699Arg) c.5100C>A (p.Ser1700Arg) c.5046C>A (p.Ser1682Arg) c.4938C>A (p.Ser1646Arg) c.5001C>A (p.Ser1667Arg) c.4971C>A (p.Ser1657Arg) c.5043C>A (p.Ser1681Arg) | |
3 | g.38551273C>A | CA352142373 | SCN5A | c.5096G>T (p.Ser1699Ile) c.5099G>T (p.Ser1700Ile) c.5045G>T (p.Ser1682Ile) c.4937G>T (p.Ser1646Ile) c.5000G>T (p.Ser1667Ile) c.4970G>T (p.Ser1657Ile) c.5042G>T (p.Ser1681Ile) | |
3 | g.38551273C>G | CA352142377 | SCN5A | c.5096G>C (p.Ser1699Thr) c.5099G>C (p.Ser1700Thr) c.5045G>C (p.Ser1682Thr) c.4937G>C (p.Ser1646Thr) c.5000G>C (p.Ser1667Thr) c.4970G>C (p.Ser1657Thr) c.5042G>C (p.Ser1681Thr) | |
3 | g.38551273C>T | CA352142375 | SCN5A | c.5096G>A (p.Ser1699Asn) c.5099G>A (p.Ser1700Asn) c.5045G>A (p.Ser1682Asn) c.4937G>A (p.Ser1646Asn) c.5000G>A (p.Ser1667Asn) c.4970G>A (p.Ser1657Asn) c.5042G>A (p.Ser1681Asn) | ClinVar |
3 | g.38551274T>A | CA352142378 | SCN5A | c.5095A>T (p.Ser1699Cys) c.5098A>T (p.Ser1700Cys) c.5044A>T (p.Ser1682Cys) c.4936A>T (p.Ser1646Cys) c.4999A>T (p.Ser1667Cys) c.4969A>T (p.Ser1657Cys) c.5041A>T (p.Ser1681Cys) | |
3 | g.38551274T>C | CA352142382 | SCN5A | c.5095A>G (p.Ser1699Gly) c.5098A>G (p.Ser1700Gly) c.5044A>G (p.Ser1682Gly) c.4936A>G (p.Ser1646Gly) c.4999A>G (p.Ser1667Gly) c.4969A>G (p.Ser1657Gly) c.5041A>G (p.Ser1681Gly) | ClinVar dbSNP |
3 | g.38551274T>G | CA352142380 | SCN5A | c.5095A>C (p.Ser1699Arg) c.5098A>C (p.Ser1700Arg) c.5044A>C (p.Ser1682Arg) c.4936A>C (p.Ser1646Arg) c.4999A>C (p.Ser1667Arg) c.4969A>C (p.Ser1657Arg) c.5041A>C (p.Ser1681Arg) | |
3 | g.38551274T= | CA1358557763 | SCN5A | c.5095A= (p.Ser1699=) c.5098A= (p.Ser1700=) c.5044A= (p.Ser1682=) c.4936A= (p.Ser1646=) c.4999A= (p.Ser1667=) c.4969A= (p.Ser1657=) c.5041A= (p.Ser1681=) | |
3 | g.38551275G>A | CA433332025 | SCN5A | c.5094C>T (p.Asn1698=) c.5097C>T (p.Asn1699=) c.5043C>T (p.Asn1681=) c.4935C>T (p.Asn1645=) c.4998C>T (p.Asn1666=) c.4968C>T (p.Asn1656=) c.5040C>T (p.Asn1680=) | ClinVar |
3 | g.38551275G>C | CA352142384 | SCN5A | c.5094C>G (p.Asn1698Lys) c.5097C>G (p.Asn1699Lys) c.5043C>G (p.Asn1681Lys) c.4935C>G (p.Asn1645Lys) c.4998C>G (p.Asn1666Lys) c.4968C>G (p.Asn1656Lys) c.5040C>G (p.Asn1680Lys) | gnomAD v4 |
3 | g.38551275G>T | CA352142385 | SCN5A | c.5094C>A (p.Asn1698Lys) c.5097C>A (p.Asn1699Lys) c.5043C>A (p.Asn1681Lys) c.4935C>A (p.Asn1645Lys) c.4998C>A (p.Asn1666Lys) c.4968C>A (p.Asn1656Lys) c.5040C>A (p.Asn1680Lys) | |
3 | g.38551276T>A | CA352142387 | SCN5A | c.5093A>T (p.Asn1698Ile) c.5096A>T (p.Asn1699Ile) c.5042A>T (p.Asn1681Ile) c.4934A>T (p.Asn1645Ile) c.4997A>T (p.Asn1666Ile) c.4967A>T (p.Asn1656Ile) c.5039A>T (p.Asn1680Ile) | |
3 | g.38551276T>C | CA352142389 | SCN5A | c.5093A>G (p.Asn1698Ser) c.5096A>G (p.Asn1699Ser) c.5042A>G (p.Asn1681Ser) c.4934A>G (p.Asn1645Ser) c.4997A>G (p.Asn1666Ser) c.4967A>G (p.Asn1656Ser) c.5039A>G (p.Asn1680Ser) | |
3 | g.38551276T>G | CA352142390 | SCN5A | c.5093A>C (p.Asn1698Thr) c.5096A>C (p.Asn1699Thr) c.5042A>C (p.Asn1681Thr) c.4934A>C (p.Asn1645Thr) c.4997A>C (p.Asn1666Thr) c.4967A>C (p.Asn1656Thr) c.5039A>C (p.Asn1680Thr) | |
3 | g.38551277T>A | CA352142392 | SCN5A | c.5092A>T (p.Asn1698Tyr) c.5095A>T (p.Asn1699Tyr) c.5041A>T (p.Asn1681Tyr) c.4933A>T (p.Asn1645Tyr) c.4996A>T (p.Asn1666Tyr) c.4966A>T (p.Asn1656Tyr) c.5038A>T (p.Asn1680Tyr) | |
3 | g.38551277T>C | CA352142393 | SCN5A | c.5092A>G (p.Asn1698Asp) c.5095A>G (p.Asn1699Asp) c.5041A>G (p.Asn1681Asp) c.4933A>G (p.Asn1645Asp) c.4996A>G (p.Asn1666Asp) c.4966A>G (p.Asn1656Asp) c.5038A>G (p.Asn1680Asp) | |
3 | g.38551277T>G | CA352142395 | SCN5A | c.5092A>C (p.Asn1698His) c.5095A>C (p.Asn1699His) c.5041A>C (p.Asn1681His) c.4933A>C (p.Asn1645His) c.4996A>C (p.Asn1666His) c.4966A>C (p.Asn1656His) c.5038A>C (p.Asn1680His) | |
3 | g.38551278G>A | CA433332026 | SCN5A | c.5091C>T (p.Ala1697=) c.5094C>T (p.Ala1698=) c.5040C>T (p.Ala1680=) c.4932C>T (p.Ala1644=) c.4995C>T (p.Ala1665=) c.4965C>T (p.Ala1655=) c.5037C>T (p.Ala1679=) | |
3 | g.38551278G>C | CA433332027 | SCN5A | c.5091C>G (p.Ala1697=) c.5094C>G (p.Ala1698=) c.5040C>G (p.Ala1680=) c.4932C>G (p.Ala1644=) c.4995C>G (p.Ala1665=) c.4965C>G (p.Ala1655=) c.5037C>G (p.Ala1679=) | |
3 | g.38551278G>T | CA433332028 | SCN5A | c.5091C>A (p.Ala1697=) c.5094C>A (p.Ala1698=) c.5040C>A (p.Ala1680=) c.4932C>A (p.Ala1644=) c.4995C>A (p.Ala1665=) c.4965C>A (p.Ala1655=) c.5037C>A (p.Ala1679=) | |
3 | g.38551279G>A | CA352142402 | SCN5A | c.5090C>T (p.Ala1697Val) c.5093C>T (p.Ala1698Val) c.5039C>T (p.Ala1680Val) c.4931C>T (p.Ala1644Val) c.4994C>T (p.Ala1665Val) c.4964C>T (p.Ala1655Val) c.5036C>T (p.Ala1679Val) | |
3 | g.38551279G>C | CA352142401 | SCN5A | c.5090C>G (p.Ala1697Gly) c.5093C>G (p.Ala1698Gly) c.5039C>G (p.Ala1680Gly) c.4931C>G (p.Ala1644Gly) c.4994C>G (p.Ala1665Gly) c.4964C>G (p.Ala1655Gly) c.5036C>G (p.Ala1679Gly) | |
3 | g.38551279G>T | CA352142400 | SCN5A | c.5090C>A (p.Ala1697Asp) c.5093C>A (p.Ala1698Asp) c.5039C>A (p.Ala1680Asp) c.4931C>A (p.Ala1644Asp) c.4994C>A (p.Ala1665Asp) c.4964C>A (p.Ala1655Asp) c.5036C>A (p.Ala1679Asp) | |
3 | g.38551280C>A | CA352142405 | SCN5A | c.5089G>T (p.Ala1697Ser) c.5092G>T (p.Ala1698Ser) c.5038G>T (p.Ala1680Ser) c.4930G>T (p.Ala1644Ser) c.4993G>T (p.Ala1665Ser) c.4963G>T (p.Ala1655Ser) c.5035G>T (p.Ala1679Ser) | gnomAD v4 |
3 | g.38551280C= | CA1358557769 | SCN5A | c.5089G= (p.Ala1697=) c.5092G= (p.Ala1698=) c.5038G= (p.Ala1680=) c.4930G= (p.Ala1644=) c.4993G= (p.Ala1665=) c.4963G= (p.Ala1655=) c.5035G= (p.Ala1679=) | |
3 | g.38551280C>G | CA352142406 | SCN5A | c.5089G>C (p.Ala1697Pro) c.5092G>C (p.Ala1698Pro) c.5038G>C (p.Ala1680Pro) c.4930G>C (p.Ala1644Pro) c.4993G>C (p.Ala1665Pro) c.4963G>C (p.Ala1655Pro) c.5035G>C (p.Ala1679Pro) | |
3 | g.38551280C>T | CA018875 | SCN5A | c.5089G>A (p.Ala1697Thr) c.5092G>A (p.Ala1698Thr) c.5038G>A (p.Ala1680Thr) c.4930G>A (p.Ala1644Thr) c.4993G>A (p.Ala1665Thr) c.4963G>A (p.Ala1655Thr) c.5035G>A (p.Ala1679Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38551281G>A | CA064116 | SCN5A | c.5088C>T (p.Phe1696=) c.5091C>T (p.Phe1697=) c.5037C>T (p.Phe1679=) c.4929C>T (p.Phe1643=) c.4992C>T (p.Phe1664=) c.4962C>T (p.Phe1654=) c.5034C>T (p.Phe1678=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
3 | g.38551281G>C | CA352142410 | SCN5A | c.5088C>G (p.Phe1696Leu) c.5091C>G (p.Phe1697Leu) c.5037C>G (p.Phe1679Leu) c.4929C>G (p.Phe1643Leu) c.4992C>G (p.Phe1664Leu) c.4962C>G (p.Phe1654Leu) c.5034C>G (p.Phe1678Leu) | |
3 | g.38551281G= | CA1358557772 | SCN5A | c.5088C= (p.Phe1696=) c.5091C= (p.Phe1697=) c.5037C= (p.Phe1679=) c.4929C= (p.Phe1643=) c.4992C= (p.Phe1664=) c.4962C= (p.Phe1654=) c.5034C= (p.Phe1678=) | |
3 | g.38551281G>T | CA352142411 | SCN5A | c.5088C>A (p.Phe1696Leu) c.5091C>A (p.Phe1697Leu) c.5037C>A (p.Phe1679Leu) c.4929C>A (p.Phe1643Leu) c.4992C>A (p.Phe1664Leu) c.4962C>A (p.Phe1654Leu) c.5034C>A (p.Phe1678Leu) | gnomAD v4 |
3 | g.38551282A>C | CA352142414 | SCN5A | c.5087T>G (p.Phe1696Cys) c.5090T>G (p.Phe1697Cys) c.5036T>G (p.Phe1679Cys) c.4928T>G (p.Phe1643Cys) c.4991T>G (p.Phe1664Cys) c.4961T>G (p.Phe1654Cys) c.5033T>G (p.Phe1678Cys) | |
3 | g.38551282A>G | CA352142417 | SCN5A | c.5087T>C (p.Phe1696Ser) c.5090T>C (p.Phe1697Ser) c.5036T>C (p.Phe1679Ser) c.4928T>C (p.Phe1643Ser) c.4991T>C (p.Phe1664Ser) c.4961T>C (p.Phe1654Ser) c.5033T>C (p.Phe1678Ser) | |
3 | g.38551282A>T | CA352142416 | SCN5A | c.5087T>A (p.Phe1696Tyr) c.5090T>A (p.Phe1697Tyr) c.5036T>A (p.Phe1679Tyr) c.4928T>A (p.Phe1643Tyr) c.4991T>A (p.Phe1664Tyr) c.4961T>A (p.Phe1654Tyr) c.5033T>A (p.Phe1678Tyr) | |
3 | g.38551283A>C | CA352142419 | SCN5A | c.5086T>G (p.Phe1696Val) c.5089T>G (p.Phe1697Val) c.5035T>G (p.Phe1679Val) c.4927T>G (p.Phe1643Val) c.4990T>G (p.Phe1664Val) c.4960T>G (p.Phe1654Val) c.5032T>G (p.Phe1678Val) | |
3 | g.38551283A>G | CA352142421 | SCN5A | c.5086T>C (p.Phe1696Leu) c.5089T>C (p.Phe1697Leu) c.5035T>C (p.Phe1679Leu) c.4927T>C (p.Phe1643Leu) c.4990T>C (p.Phe1664Leu) c.4960T>C (p.Phe1654Leu) c.5032T>C (p.Phe1678Leu) | ClinVar dbSNP gnomAD v4 |
3 | g.38551283A>T | CA352142423 | SCN5A | c.5086T>A (p.Phe1696Ile) c.5089T>A (p.Phe1697Ile) c.5035T>A (p.Phe1679Ile) c.4927T>A (p.Phe1643Ile) c.4990T>A (p.Phe1664Ile) c.4960T>A (p.Phe1654Ile) c.5032T>A (p.Phe1678Ile) | |
3 | g.38551284G>A | CA433332029 | SCN5A | c.5085C>T (p.Thr1695=) c.5088C>T (p.Thr1696=) c.5034C>T (p.Thr1678=) c.4926C>T (p.Thr1642=) c.4989C>T (p.Thr1663=) c.4959C>T (p.Thr1653=) c.5031C>T (p.Thr1677=) | gnomAD v4 |
3 | g.38551284G>C | CA433332030 | SCN5A | c.5085C>G (p.Thr1695=) c.5088C>G (p.Thr1696=) c.5034C>G (p.Thr1678=) c.4926C>G (p.Thr1642=) c.4989C>G (p.Thr1663=) c.4959C>G (p.Thr1653=) c.5031C>G (p.Thr1677=) | |
3 | g.38551284G>T | CA433332031 | SCN5A | c.5085C>A (p.Thr1695=) c.5088C>A (p.Thr1696=) c.5034C>A (p.Thr1678=) c.4926C>A (p.Thr1642=) c.4989C>A (p.Thr1663=) c.4959C>A (p.Thr1653=) c.5031C>A (p.Thr1677=) | |
3 | g.38551285G>A | CA352142424 | SCN5A | c.5084C>T (p.Thr1695Ile) c.5087C>T (p.Thr1696Ile) c.5033C>T (p.Thr1678Ile) c.4925C>T (p.Thr1642Ile) c.4988C>T (p.Thr1663Ile) c.4958C>T (p.Thr1653Ile) c.5030C>T (p.Thr1677Ile) | |
3 | g.38551285G>C | CA352142425 | SCN5A | c.5084C>G (p.Thr1695Ser) c.5087C>G (p.Thr1696Ser) c.5033C>G (p.Thr1678Ser) c.4925C>G (p.Thr1642Ser) c.4988C>G (p.Thr1663Ser) c.4958C>G (p.Thr1653Ser) c.5030C>G (p.Thr1677Ser) | |
3 | g.38551285G>T | CA352142427 | SCN5A | c.5084C>A (p.Thr1695Asn) c.5087C>A (p.Thr1696Asn) c.5033C>A (p.Thr1678Asn) c.4925C>A (p.Thr1642Asn) c.4988C>A (p.Thr1663Asn) c.4958C>A (p.Thr1653Asn) c.5030C>A (p.Thr1677Asn) | |
3 | g.38551286T>A | CA352142429 | SCN5A | c.5083A>T (p.Thr1695Ser) c.5086A>T (p.Thr1696Ser) c.5032A>T (p.Thr1678Ser) c.4924A>T (p.Thr1642Ser) c.4987A>T (p.Thr1663Ser) c.4957A>T (p.Thr1653Ser) c.5029A>T (p.Thr1677Ser) | |
3 | g.38551286T>C | CA352142431 | SCN5A | c.5083A>G (p.Thr1695Ala) c.5086A>G (p.Thr1696Ala) c.5032A>G (p.Thr1678Ala) c.4924A>G (p.Thr1642Ala) c.4987A>G (p.Thr1663Ala) c.4957A>G (p.Thr1653Ala) c.5029A>G (p.Thr1677Ala) | COSMIC COSMIC COSMIC |
3 | g.38551286T>G | CA352142432 | SCN5A | c.5083A>C (p.Thr1695Pro) c.5086A>C (p.Thr1696Pro) c.5032A>C (p.Thr1678Pro) c.4924A>C (p.Thr1642Pro) c.4987A>C (p.Thr1663Pro) c.4957A>C (p.Thr1653Pro) c.5029A>C (p.Thr1677Pro) | |
3 | g.38551287C>A | CA352142435 | SCN5A | c.5082G>T (p.Gln1694His) c.5085G>T (p.Gln1695His) c.5031G>T (p.Gln1677His) c.4923G>T (p.Gln1641His) c.4986G>T (p.Gln1662His) c.4956G>T (p.Gln1652His) c.5028G>T (p.Gln1676His) | |
3 | g.38551287C= | CA1358557776 | SCN5A | c.5082G= (p.Gln1694=) c.5085G= (p.Gln1695=) c.5031G= (p.Gln1677=) c.4923G= (p.Gln1641=) c.4986G= (p.Gln1662=) c.4956G= (p.Gln1652=) c.5028G= (p.Gln1676=) | |
3 | g.38551287C>G | CA352142436 | SCN5A | c.5082G>C (p.Gln1694His) c.5085G>C (p.Gln1695His) c.5031G>C (p.Gln1677His) c.4923G>C (p.Gln1641His) c.4986G>C (p.Gln1662His) c.4956G>C (p.Gln1652His) c.5028G>C (p.Gln1676His) | gnomAD v4 COSMIC COSMIC COSMIC |
3 | g.38551287C>T | CA433332032 | SCN5A | c.5082G>A (p.Gln1694=) c.5085G>A (p.Gln1695=) c.5031G>A (p.Gln1677=) c.4923G>A (p.Gln1641=) c.4986G>A (p.Gln1662=) c.4956G>A (p.Gln1652=) c.5028G>A (p.Gln1676=) | ClinVar dbSNP gnomAD v4 |
3 | g.38551288T>A | CA352142438 | SCN5A | c.5081A>T (p.Gln1694Leu) c.5084A>T (p.Gln1695Leu) c.5030A>T (p.Gln1677Leu) c.4922A>T (p.Gln1641Leu) c.4985A>T (p.Gln1662Leu) c.4955A>T (p.Gln1652Leu) c.5027A>T (p.Gln1676Leu) | |
3 | g.38551288T>C | CA352142440 | SCN5A | c.5081A>G (p.Gln1694Arg) c.5084A>G (p.Gln1695Arg) c.5030A>G (p.Gln1677Arg) c.4922A>G (p.Gln1641Arg) c.4985A>G (p.Gln1662Arg) c.4955A>G (p.Gln1652Arg) c.5027A>G (p.Gln1676Arg) | |
3 | g.38551288T>G | CA352142439 | SCN5A | c.5081A>C (p.Gln1694Pro) c.5084A>C (p.Gln1695Pro) c.5030A>C (p.Gln1677Pro) c.4922A>C (p.Gln1641Pro) c.4985A>C (p.Gln1662Pro) c.4955A>C (p.Gln1652Pro) c.5027A>C (p.Gln1676Pro) |