UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.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.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) | |
| 3 | g.38551289G>A | CA352142443 | SCN5A | c.5080C>T (p.Gln1694Ter) c.5083C>T (p.Gln1695Ter) c.5029C>T (p.Gln1677Ter) c.4921C>T (p.Gln1641Ter) c.4984C>T (p.Gln1662Ter) c.4954C>T (p.Gln1652Ter) c.5026C>T (p.Gln1676Ter) | ClinVar dbSNP |
| 3 | g.38551289G>C | CA352142445 | SCN5A | c.5080C>G (p.Gln1694Glu) c.5083C>G (p.Gln1695Glu) c.5029C>G (p.Gln1677Glu) c.4921C>G (p.Gln1641Glu) c.4984C>G (p.Gln1662Glu) c.4954C>G (p.Gln1652Glu) c.5026C>G (p.Gln1676Glu) | |
| 3 | g.38551289G= | CA1358557779 | SCN5A | c.5080C= (p.Gln1694=) c.5083C= (p.Gln1695=) c.5029C= (p.Gln1677=) c.4921C= (p.Gln1641=) c.4984C= (p.Gln1662=) c.4954C= (p.Gln1652=) c.5026C= (p.Gln1676=) | |
| 3 | g.38551289G>T | CA352142446 | SCN5A | c.5080C>A (p.Gln1694Lys) c.5083C>A (p.Gln1695Lys) c.5029C>A (p.Gln1677Lys) c.4921C>A (p.Gln1641Lys) c.4984C>A (p.Gln1662Lys) c.4954C>A (p.Gln1652Lys) c.5026C>A (p.Gln1676Lys) | |
| 3 | g.38551290G>A | CA72938154 | SCN5A | c.5079C>T (p.Phe1693=) c.5082C>T (p.Phe1694=) c.5028C>T (p.Phe1676=) c.4920C>T (p.Phe1640=) c.4983C>T (p.Phe1661=) c.4953C>T (p.Phe1651=) c.5025C>T (p.Phe1675=) | dbSNP gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.38551290G>C | CA352142449 | SCN5A | c.5079C>G (p.Phe1693Leu) c.5082C>G (p.Phe1694Leu) c.5028C>G (p.Phe1676Leu) c.4920C>G (p.Phe1640Leu) c.4983C>G (p.Phe1661Leu) c.4953C>G (p.Phe1651Leu) c.5025C>G (p.Phe1675Leu) | |
| 3 | g.38551290G= | CA1358557784 | SCN5A | c.5079C= (p.Phe1693=) c.5082C= (p.Phe1694=) c.5028C= (p.Phe1676=) c.4920C= (p.Phe1640=) c.4983C= (p.Phe1661=) c.4953C= (p.Phe1651=) c.5025C= (p.Phe1675=) | |
| 3 | g.38551290G>T | CA352142450 | SCN5A | c.5079C>A (p.Phe1693Leu) c.5082C>A (p.Phe1694Leu) c.5028C>A (p.Phe1676Leu) c.4920C>A (p.Phe1640Leu) c.4983C>A (p.Phe1661Leu) c.4953C>A (p.Phe1651Leu) c.5025C>A (p.Phe1675Leu) | |
| 3 | g.38551291A>C | CA352142452 | SCN5A | c.5078T>G (p.Phe1693Cys) c.5081T>G (p.Phe1694Cys) c.5027T>G (p.Phe1676Cys) c.4919T>G (p.Phe1640Cys) c.4982T>G (p.Phe1661Cys) c.4952T>G (p.Phe1651Cys) c.5024T>G (p.Phe1675Cys) | |
| 3 | g.38551291A>G | CA352142453 | SCN5A | c.5078T>C (p.Phe1693Ser) c.5081T>C (p.Phe1694Ser) c.5027T>C (p.Phe1676Ser) c.4919T>C (p.Phe1640Ser) c.4982T>C (p.Phe1661Ser) c.4952T>C (p.Phe1651Ser) c.5024T>C (p.Phe1675Ser) | |
| 3 | g.38551291A>T | CA352142454 | SCN5A | c.5078T>A (p.Phe1693Tyr) c.5081T>A (p.Phe1694Tyr) c.5027T>A (p.Phe1676Tyr) c.4919T>A (p.Phe1640Tyr) c.4982T>A (p.Phe1661Tyr) c.4952T>A (p.Phe1651Tyr) c.5024T>A (p.Phe1675Tyr) | |
| 3 | g.38551292A>C | CA352142456 | SCN5A | c.5077T>G (p.Phe1693Val) c.5080T>G (p.Phe1694Val) c.5026T>G (p.Phe1676Val) c.4918T>G (p.Phe1640Val) c.4981T>G (p.Phe1661Val) c.4951T>G (p.Phe1651Val) c.5023T>G (p.Phe1675Val) | |
| 3 | g.38551292A>G | CA352142457 | SCN5A | c.5077T>C (p.Phe1693Leu) c.5080T>C (p.Phe1694Leu) c.5026T>C (p.Phe1676Leu) c.4918T>C (p.Phe1640Leu) c.4981T>C (p.Phe1661Leu) c.4951T>C (p.Phe1651Leu) c.5023T>C (p.Phe1675Leu) | |
| 3 | g.38551292A>T | CA352142459 | SCN5A | c.5077T>A (p.Phe1693Ile) c.5080T>A (p.Phe1694Ile) c.5026T>A (p.Phe1676Ile) c.4918T>A (p.Phe1640Ile) c.4981T>A (p.Phe1661Ile) c.4951T>A (p.Phe1651Ile) c.5023T>A (p.Phe1675Ile) | |
| 3 | g.38551292_38551295dup | CA2573136285 | SCN5A | c.5074_5077dup (p.Phe1693Ter) c.5077_5080dup (p.Phe1694Ter) c.5023_5026dup (p.Phe1676Ter) c.4915_4918dup (p.Phe1640Ter) c.4978_4981dup (p.Phe1661Ter) c.4948_4951dup (p.Phe1651Ter) c.5020_5023dup (p.Phe1675Ter) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38551293G>A | CA433332033 | SCN5A | c.5076C>T (p.Asn1692=) c.5079C>T (p.Asn1693=) c.5025C>T (p.Asn1675=) c.4917C>T (p.Asn1639=) c.4980C>T (p.Asn1660=) c.4950C>T (p.Asn1650=) c.5022C>T (p.Asn1674=) | |
| 3 | g.38551293G>C | CA352142463 | SCN5A | c.5076C>G (p.Asn1692Lys) c.5079C>G (p.Asn1693Lys) c.5025C>G (p.Asn1675Lys) c.4917C>G (p.Asn1639Lys) c.4980C>G (p.Asn1660Lys) c.4950C>G (p.Asn1650Lys) c.5022C>G (p.Asn1674Lys) | |
| 3 | g.38551293G>T | CA352142461 | SCN5A | c.5076C>A (p.Asn1692Lys) c.5079C>A (p.Asn1693Lys) c.5025C>A (p.Asn1675Lys) c.4917C>A (p.Asn1639Lys) c.4980C>A (p.Asn1660Lys) c.4950C>A (p.Asn1650Lys) c.5022C>A (p.Asn1674Lys) | |
| 3 | g.38551295_38551303del | CA2573052151 | SCN5A | c.5068_5076del (p.Met1690_Asn1692del) c.5071_5079del (p.Met1691_Asn1693del) c.5017_5025del (p.Met1673_Asn1675del) c.4909_4917del (p.Met1637_Asn1639del) c.4972_4980del (p.Met1658_Asn1660del) c.4942_4950del (p.Met1648_Asn1650del) c.5014_5022del (p.Met1672_Asn1674del) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38551294T>A | CA352142465 | SCN5A | c.5075A>T (p.Asn1692Ile) c.5078A>T (p.Asn1693Ile) c.5024A>T (p.Asn1675Ile) c.4916A>T (p.Asn1639Ile) c.4979A>T (p.Asn1660Ile) c.4949A>T (p.Asn1650Ile) c.5021A>T (p.Asn1674Ile) | |
| 3 | g.38551294T>C | CA352142467 | SCN5A | c.5075A>G (p.Asn1692Ser) c.5078A>G (p.Asn1693Ser) c.5024A>G (p.Asn1675Ser) c.4916A>G (p.Asn1639Ser) c.4979A>G (p.Asn1660Ser) c.4949A>G (p.Asn1650Ser) c.5021A>G (p.Asn1674Ser) | |
| 3 | g.38551294T>G | CA352142469 | SCN5A | c.5075A>C (p.Asn1692Thr) c.5078A>C (p.Asn1693Thr) c.5024A>C (p.Asn1675Thr) c.4916A>C (p.Asn1639Thr) c.4979A>C (p.Asn1660Thr) c.4949A>C (p.Asn1650Thr) c.5021A>C (p.Asn1674Thr) | |
| 3 | g.38551295T>A | CA352142471 | SCN5A | c.5074A>T (p.Asn1692Tyr) c.5077A>T (p.Asn1693Tyr) c.5023A>T (p.Asn1675Tyr) c.4915A>T (p.Asn1639Tyr) c.4978A>T (p.Asn1660Tyr) c.4948A>T (p.Asn1650Tyr) c.5020A>T (p.Asn1674Tyr) | |
| 3 | g.38551295T>C | CA352142472 | SCN5A | c.5074A>G (p.Asn1692Asp) c.5077A>G (p.Asn1693Asp) c.5023A>G (p.Asn1675Asp) c.4915A>G (p.Asn1639Asp) c.4978A>G (p.Asn1660Asp) c.4948A>G (p.Asn1650Asp) c.5020A>G (p.Asn1674Asp) | |
| 3 | g.38551295T>G | CA352142473 | SCN5A | c.5074A>C (p.Asn1692His) c.5077A>C (p.Asn1693His) c.5023A>C (p.Asn1675His) c.4915A>C (p.Asn1639His) c.4978A>C (p.Asn1660His) c.4948A>C (p.Asn1650His) c.5020A>C (p.Asn1674His) | dbSNP |
| 3 | g.38551295T= | CA1358557791 | SCN5A | c.5074A= (p.Asn1692=) c.5077A= (p.Asn1693=) c.5023A= (p.Asn1675=) c.4915A= (p.Asn1639=) c.4978A= (p.Asn1660=) c.4948A= (p.Asn1650=) c.5020A= (p.Asn1674=) | |
| 3 | g.38551296G>A | CA433332034 | SCN5A | c.5073C>T (p.Phe1691=) c.5076C>T (p.Phe1692=) c.5022C>T (p.Phe1674=) c.4914C>T (p.Phe1638=) c.4977C>T (p.Phe1659=) c.4947C>T (p.Phe1649=) c.5019C>T (p.Phe1673=) | COSMIC COSMIC COSMIC |
| 3 | g.38551296G>C | CA352142475 | SCN5A | c.5073C>G (p.Phe1691Leu) c.5076C>G (p.Phe1692Leu) c.5022C>G (p.Phe1674Leu) c.4914C>G (p.Phe1638Leu) c.4977C>G (p.Phe1659Leu) c.4947C>G (p.Phe1649Leu) c.5019C>G (p.Phe1673Leu) | |
| 3 | g.38551296G>T | CA352142477 | SCN5A | c.5073C>A (p.Phe1691Leu) c.5076C>A (p.Phe1692Leu) c.5022C>A (p.Phe1674Leu) c.4914C>A (p.Phe1638Leu) c.4977C>A (p.Phe1659Leu) c.4947C>A (p.Phe1649Leu) c.5019C>A (p.Phe1673Leu) | |
| 3 | g.38551297A= | CA1358557796 | SCN5A | c.5072T= (p.Phe1691=) c.5075T= (p.Phe1692=) c.5021T= (p.Phe1674=) c.4913T= (p.Phe1638=) c.4976T= (p.Phe1659=) c.4946T= (p.Phe1649=) c.5018T= (p.Phe1673=) | |
| 3 | g.38551297A>C | CA352142479 | SCN5A | c.5072T>G (p.Phe1691Cys) c.5075T>G (p.Phe1692Cys) c.5021T>G (p.Phe1674Cys) c.4913T>G (p.Phe1638Cys) c.4976T>G (p.Phe1659Cys) c.4946T>G (p.Phe1649Cys) c.5018T>G (p.Phe1673Cys) | |
| 3 | g.38551297A>G | CA352115 | SCN5A | c.5072T>C (p.Phe1691Ser) c.5075T>C (p.Phe1692Ser) c.5021T>C (p.Phe1674Ser) c.4913T>C (p.Phe1638Ser) c.4976T>C (p.Phe1659Ser) c.4946T>C (p.Phe1649Ser) c.5018T>C (p.Phe1673Ser) | ClinVar dbSNP |
| 3 | g.38551297A>T | CA352142482 | SCN5A | c.5072T>A (p.Phe1691Tyr) c.5075T>A (p.Phe1692Tyr) c.5021T>A (p.Phe1674Tyr) c.4913T>A (p.Phe1638Tyr) c.4976T>A (p.Phe1659Tyr) c.4946T>A (p.Phe1649Tyr) c.5018T>A (p.Phe1673Tyr) | |
| 3 | g.38551298A>C | CA352142487 | SCN5A | c.5071T>G (p.Phe1691Val) c.5074T>G (p.Phe1692Val) c.5020T>G (p.Phe1674Val) c.4912T>G (p.Phe1638Val) c.4975T>G (p.Phe1659Val) c.4945T>G (p.Phe1649Val) c.5017T>G (p.Phe1673Val) | |
| 3 | g.38551298A>G | CA352142485 | SCN5A | c.5071T>C (p.Phe1691Leu) c.5074T>C (p.Phe1692Leu) c.5020T>C (p.Phe1674Leu) c.4912T>C (p.Phe1638Leu) c.4975T>C (p.Phe1659Leu) c.4945T>C (p.Phe1649Leu) c.5017T>C (p.Phe1673Leu) | |
| 3 | g.38551298A>T | CA352142484 | SCN5A | c.5071T>A (p.Phe1691Ile) c.5074T>A (p.Phe1692Ile) c.5020T>A (p.Phe1674Ile) c.4912T>A (p.Phe1638Ile) c.4975T>A (p.Phe1659Ile) c.4945T>A (p.Phe1649Ile) c.5017T>A (p.Phe1673Ile) | |
| 3 | g.38551299C>A | CA352142490 | SCN5A | c.5070G>T (p.Met1690Ile) c.5073G>T (p.Met1691Ile) c.5019G>T (p.Met1673Ile) c.4911G>T (p.Met1637Ile) c.4974G>T (p.Met1658Ile) c.4944G>T (p.Met1648Ile) c.5016G>T (p.Met1672Ile) | |
| 3 | g.38551299C>G | CA352142491 | SCN5A | c.5070G>C (p.Met1690Ile) c.5073G>C (p.Met1691Ile) c.5019G>C (p.Met1673Ile) c.4911G>C (p.Met1637Ile) c.4974G>C (p.Met1658Ile) c.4944G>C (p.Met1648Ile) c.5016G>C (p.Met1672Ile) | |
| 3 | g.38551299C>T | CA352142493 | SCN5A | c.5070G>A (p.Met1690Ile) c.5073G>A (p.Met1691Ile) c.5019G>A (p.Met1673Ile) c.4911G>A (p.Met1637Ile) c.4974G>A (p.Met1658Ile) c.4944G>A (p.Met1648Ile) c.5016G>A (p.Met1672Ile) | |
| 3 | g.38551300A= | CA1358557800 | SCN5A | c.5069T= (p.Met1690=) c.5072T= (p.Met1691=) c.5018T= (p.Met1673=) c.4910T= (p.Met1637=) c.4973T= (p.Met1658=) c.4943T= (p.Met1648=) c.5015T= (p.Met1672=) | |
| 3 | g.38551300A>C | CA352142494 | SCN5A | c.5069T>G (p.Met1690Arg) c.5072T>G (p.Met1691Arg) c.5018T>G (p.Met1673Arg) c.4910T>G (p.Met1637Arg) c.4973T>G (p.Met1658Arg) c.4943T>G (p.Met1648Arg) c.5015T>G (p.Met1672Arg) | |
| 3 | g.38551300A>G | CA018868 | SCN5A | c.5069T>C (p.Met1690Thr) c.5072T>C (p.Met1691Thr) c.5018T>C (p.Met1673Thr) c.4910T>C (p.Met1637Thr) c.4973T>C (p.Met1658Thr) c.4943T>C (p.Met1648Thr) c.5015T>C (p.Met1672Thr) | ClinVar dbSNP |
| 3 | g.38551300A>T | CA352142496 | SCN5A | c.5069T>A (p.Met1690Lys) c.5072T>A (p.Met1691Lys) c.5018T>A (p.Met1673Lys) c.4910T>A (p.Met1637Lys) c.4973T>A (p.Met1658Lys) c.4943T>A (p.Met1648Lys) c.5015T>A (p.Met1672Lys) | |
| 3 | g.38551300_38551301del | CA2739279199 | SCN5A | c.5068_5069del (p.Met1690ValfsTer?) c.5071_5072del (p.Met1691ValfsTer?) c.5017_5018del (p.Met1673ValfsTer?) c.4909_4910del (p.Met1637ValfsTer?) c.4972_4973del (p.Met1658ValfsTer?) c.4942_4943del (p.Met1648ValfsTer?) c.5014_5015del (p.Met1672ValfsTer?) | ClinVar |
| 3 | g.38551301T>A | CA352142501 | SCN5A | c.5068A>T (p.Met1690Leu) c.5071A>T (p.Met1691Leu) c.5017A>T (p.Met1673Leu) c.4909A>T (p.Met1637Leu) c.4972A>T (p.Met1658Leu) c.4942A>T (p.Met1648Leu) c.5014A>T (p.Met1672Leu) | |
| 3 | g.38551301T>C | CA352142499 | SCN5A | c.5068A>G (p.Met1690Val) c.5071A>G (p.Met1691Val) c.5017A>G (p.Met1673Val) c.4909A>G (p.Met1637Val) c.4972A>G (p.Met1658Val) c.4942A>G (p.Met1648Val) c.5014A>G (p.Met1672Val) | |
| 3 | g.38551301T>G | CA352142497 | SCN5A | c.5068A>C (p.Met1690Leu) c.5071A>C (p.Met1691Leu) c.5017A>C (p.Met1673Leu) c.4909A>C (p.Met1637Leu) c.4972A>C (p.Met1658Leu) c.4942A>C (p.Met1648Leu) c.5014A>C (p.Met1672Leu) | |
| 3 | g.38551301_38551304delinsTGTC | CA1358557803 | SCN5A | c.5065_5068delinsGACA (p.Asp1689=) c.5068_5071delinsGACA (p.Asp1690=) c.5014_5017delinsGACA (p.Asp1672=) c.4906_4909delinsGACA (p.Asp1636=) c.4969_4972delinsGACA (p.Asp1657=) c.4939_4942delinsGACA (p.Asp1647=) c.5011_5014delinsGACA (p.Asp1671=) | |
| 3 | g.38551302G>A | CA433332040 | SCN5A | c.5067C>T (p.Asp1689=) c.5070C>T (p.Asp1690=) c.5016C>T (p.Asp1672=) c.4908C>T (p.Asp1636=) c.4971C>T (p.Asp1657=) c.4941C>T (p.Asp1647=) c.5013C>T (p.Asp1671=) | gnomAD v4 |
| 3 | g.38551302G>C | CA352142503 | SCN5A | c.5067C>G (p.Asp1689Glu) c.5070C>G (p.Asp1690Glu) c.5016C>G (p.Asp1672Glu) c.4908C>G (p.Asp1636Glu) c.4971C>G (p.Asp1657Glu) c.4941C>G (p.Asp1647Glu) c.5013C>G (p.Asp1671Glu) | |
| 3 | g.38551302G>T | CA352142505 | SCN5A | c.5067C>A (p.Asp1689Glu) c.5070C>A (p.Asp1690Glu) c.5016C>A (p.Asp1672Glu) c.4908C>A (p.Asp1636Glu) c.4971C>A (p.Asp1657Glu) c.4941C>A (p.Asp1647Glu) c.5013C>A (p.Asp1671Glu) | |
| 3 | g.38551306_38551308del | CA064105 | SCN5A | c.5065_5067del (p.Asp1689del) c.5068_5070del (p.Asp1690del) c.5014_5016del (p.Asp1672del) c.4906_4908del (p.Asp1636del) c.4969_4971del (p.Asp1657del) c.4939_4941del (p.Asp1647del) c.5011_5013del (p.Asp1671del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38551303T>A | CA352142507 | SCN5A | c.5066A>T (p.Asp1689Val) c.5069A>T (p.Asp1690Val) c.5015A>T (p.Asp1672Val) c.4907A>T (p.Asp1636Val) c.4970A>T (p.Asp1657Val) c.4940A>T (p.Asp1647Val) c.5012A>T (p.Asp1671Val) | |
| 3 | g.38551303T>C | CA352142509 | SCN5A | c.5066A>G (p.Asp1689Gly) c.5069A>G (p.Asp1690Gly) c.5015A>G (p.Asp1672Gly) c.4907A>G (p.Asp1636Gly) c.4970A>G (p.Asp1657Gly) c.4940A>G (p.Asp1647Gly) c.5012A>G (p.Asp1671Gly) | |
| 3 | g.38551303T>G | CA352142511 | SCN5A | c.5066A>C (p.Asp1689Ala) c.5069A>C (p.Asp1690Ala) c.5015A>C (p.Asp1672Ala) c.4907A>C (p.Asp1636Ala) c.4970A>C (p.Asp1657Ala) c.4940A>C (p.Asp1647Ala) c.5012A>C (p.Asp1671Ala) | |
| 3 | g.38551303_38551304del | CA2586965820 | SCN5A | c.5065_5066del (p.Asp1689HisfsTer?) c.5068_5069del (p.Asp1690HisfsTer?) c.5014_5015del (p.Asp1672HisfsTer?) c.4906_4907del (p.Asp1636HisfsTer?) c.4969_4970del (p.Asp1657HisfsTer?) c.4939_4940del (p.Asp1647HisfsTer?) c.5011_5012del (p.Asp1671HisfsTer?) | |
| 3 | g.38551303_38551304insACATTGC | CA2510554108 | SCN5A | c.5065_5066insGCAATGT (p.Asp1689GlyfsTer?) c.5068_5069insGCAATGT (p.Asp1690GlyfsTer?) c.5014_5015insGCAATGT (p.Asp1672GlyfsTer?) c.4906_4907insGCAATGT (p.Asp1636GlyfsTer?) c.4969_4970insGCAATGT (p.Asp1657GlyfsTer?) c.4939_4940insGCAATGT (p.Asp1647GlyfsTer?) c.5011_5012insGCAATGT (p.Asp1671GlyfsTer?) | |
| 3 | g.38551304C>A | CA352142513 | SCN5A | c.5065G>T (p.Asp1689Tyr) c.5068G>T (p.Asp1690Tyr) c.5014G>T (p.Asp1672Tyr) c.4906G>T (p.Asp1636Tyr) c.4969G>T (p.Asp1657Tyr) c.4939G>T (p.Asp1647Tyr) c.5011G>T (p.Asp1671Tyr) | |
| 3 | g.38551304C= | CA1358557811 | SCN5A | c.5065G= (p.Asp1689=) c.5068G= (p.Asp1690=) c.5014G= (p.Asp1672=) c.4906G= (p.Asp1636=) c.4969G= (p.Asp1657=) c.4939G= (p.Asp1647=) c.5011G= (p.Asp1671=) | |
| 3 | g.38551304C>G | CA352142516 | SCN5A | c.5065G>C (p.Asp1689His) c.5068G>C (p.Asp1690His) c.5014G>C (p.Asp1672His) c.4906G>C (p.Asp1636His) c.4969G>C (p.Asp1657His) c.4939G>C (p.Asp1647His) c.5011G>C (p.Asp1671His) | |
| 3 | g.38551304C>T | CA16609724 | SCN5A | c.5065G>A (p.Asp1689Asn) c.5068G>A (p.Asp1690Asn) c.5014G>A (p.Asp1672Asn) c.4906G>A (p.Asp1636Asn) c.4969G>A (p.Asp1657Asn) c.4939G>A (p.Asp1647Asn) c.5011G>A (p.Asp1671Asn) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38551305G>A | CA064103 | SCN5A | c.5064C>T (p.Asp1688=) c.5067C>T (p.Asp1689=) c.5013C>T (p.Asp1671=) c.4905C>T (p.Asp1635=) c.4968C>T (p.Asp1656=) c.4938C>T (p.Asp1646=) c.5010C>T (p.Asp1670=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.38551305G>C | CA352142519 | SCN5A | c.5064C>G (p.Asp1688Glu) c.5067C>G (p.Asp1689Glu) c.5013C>G (p.Asp1671Glu) c.4905C>G (p.Asp1635Glu) c.4968C>G (p.Asp1656Glu) c.4938C>G (p.Asp1646Glu) c.5010C>G (p.Asp1670Glu) | |
| 3 | g.38551305G= | CA1358557822 | SCN5A | c.5064C= (p.Asp1688=) c.5067C= (p.Asp1689=) c.5013C= (p.Asp1671=) c.4905C= (p.Asp1635=) c.4968C= (p.Asp1656=) c.4938C= (p.Asp1646=) c.5010C= (p.Asp1670=) | |
| 3 | g.38551305G>T | CA72938182 | SCN5A | c.5064C>A (p.Asp1688Glu) c.5067C>A (p.Asp1689Glu) c.5013C>A (p.Asp1671Glu) c.4905C>A (p.Asp1635Glu) c.4968C>A (p.Asp1656Glu) c.4938C>A (p.Asp1646Glu) c.5010C>A (p.Asp1670Glu) | dbSNP |
| 3 | g.38551306T>A | CA352142523 | SCN5A | c.5063A>T (p.Asp1688Val) c.5066A>T (p.Asp1689Val) c.5012A>T (p.Asp1671Val) c.4904A>T (p.Asp1635Val) c.4967A>T (p.Asp1656Val) c.4937A>T (p.Asp1646Val) c.5009A>T (p.Asp1670Val) | |
| 3 | g.38551306T>C | CA352142525 | SCN5A | c.5063A>G (p.Asp1688Gly) c.5066A>G (p.Asp1689Gly) c.5012A>G (p.Asp1671Gly) c.4904A>G (p.Asp1635Gly) c.4967A>G (p.Asp1656Gly) c.4937A>G (p.Asp1646Gly) c.5009A>G (p.Asp1670Gly) | |
| 3 | g.38551306T>G | CA352142527 | SCN5A | c.5063A>C (p.Asp1688Ala) c.5066A>C (p.Asp1689Ala) c.5012A>C (p.Asp1671Ala) c.4904A>C (p.Asp1635Ala) c.4967A>C (p.Asp1656Ala) c.4937A>C (p.Asp1646Ala) c.5009A>C (p.Asp1670Ala) | |
| 3 | g.38551307C>A | CA352142528 | SCN5A | c.5062G>T (p.Asp1688Tyr) c.5065G>T (p.Asp1689Tyr) c.5011G>T (p.Asp1671Tyr) c.4903G>T (p.Asp1635Tyr) c.4966G>T (p.Asp1656Tyr) c.4936G>T (p.Asp1646Tyr) c.5008G>T (p.Asp1670Tyr) | |
| 3 | g.38551307C= | CA1358557825 | SCN5A | c.5062G= (p.Asp1688=) c.5065G= (p.Asp1689=) c.5011G= (p.Asp1671=) c.4903G= (p.Asp1635=) c.4966G= (p.Asp1656=) c.4936G= (p.Asp1646=) c.5008G= (p.Asp1670=) | |
| 3 | g.38551307C>G | CA352142530 | SCN5A | c.5062G>C (p.Asp1688His) c.5065G>C (p.Asp1689His) c.5011G>C (p.Asp1671His) c.4903G>C (p.Asp1635His) c.4966G>C (p.Asp1656His) c.4936G>C (p.Asp1646His) c.5008G>C (p.Asp1670His) | |
| 3 | g.38551307C>T | CA064098 | SCN5A | c.5062G>A (p.Asp1688Asn) c.5065G>A (p.Asp1689Asn) c.5011G>A (p.Asp1671Asn) c.4903G>A (p.Asp1635Asn) c.4966G>A (p.Asp1656Asn) c.4936G>A (p.Asp1646Asn) c.5008G>A (p.Asp1670Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38551308G>A | CA064093 | SCN5A | c.5061C>T (p.Ile1687=) c.5064C>T (p.Ile1688=) c.5010C>T (p.Ile1670=) c.4902C>T (p.Ile1634=) c.4965C>T (p.Ile1655=) c.4935C>T (p.Ile1645=) c.5007C>T (p.Ile1669=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38551308G>C | CA352142532 | SCN5A | c.5061C>G (p.Ile1687Met) c.5064C>G (p.Ile1688Met) c.5010C>G (p.Ile1670Met) c.4902C>G (p.Ile1634Met) c.4965C>G (p.Ile1655Met) c.4935C>G (p.Ile1645Met) c.5007C>G (p.Ile1669Met) | |
| 3 | g.38551308G= | CA1358557831 | SCN5A | c.5061C= (p.Ile1687=) c.5064C= (p.Ile1688=) c.5010C= (p.Ile1670=) c.4902C= (p.Ile1634=) c.4965C= (p.Ile1655=) c.4935C= (p.Ile1645=) c.5007C= (p.Ile1669=) | |
| 3 | g.38551308G>T | CA433332046 | SCN5A | c.5061C>A (p.Ile1687=) c.5064C>A (p.Ile1688=) c.5010C>A (p.Ile1670=) c.4902C>A (p.Ile1634=) c.4965C>A (p.Ile1655=) c.4935C>A (p.Ile1645=) c.5007C>A (p.Ile1669=) | |
| 3 | g.38551309A>C | CA352142534 | SCN5A | c.5060T>G (p.Ile1687Ser) c.5063T>G (p.Ile1688Ser) c.5009T>G (p.Ile1670Ser) c.4901T>G (p.Ile1634Ser) c.4964T>G (p.Ile1655Ser) c.4934T>G (p.Ile1645Ser) c.5006T>G (p.Ile1669Ser) | |
| 3 | g.38551309A>G | CA352142537 | SCN5A | c.5060T>C (p.Ile1687Thr) c.5063T>C (p.Ile1688Thr) c.5009T>C (p.Ile1670Thr) c.4901T>C (p.Ile1634Thr) c.4964T>C (p.Ile1655Thr) c.4934T>C (p.Ile1645Thr) c.5006T>C (p.Ile1669Thr) | |
| 3 | g.38551309A>T | CA352142535 | SCN5A | c.5060T>A (p.Ile1687Asn) c.5063T>A (p.Ile1688Asn) c.5009T>A (p.Ile1670Asn) c.4901T>A (p.Ile1634Asn) c.4964T>A (p.Ile1655Asn) c.4934T>A (p.Ile1645Asn) c.5006T>A (p.Ile1669Asn) | |
| 3 | g.38551310T>A | CA352142539 | SCN5A | c.5059A>T (p.Ile1687Phe) c.5062A>T (p.Ile1688Phe) c.5008A>T (p.Ile1670Phe) c.4900A>T (p.Ile1634Phe) c.4963A>T (p.Ile1655Phe) c.4933A>T (p.Ile1645Phe) c.5005A>T (p.Ile1669Phe) | |
| 3 | g.38551310T>C | CA352142540 | SCN5A | c.5059A>G (p.Ile1687Val) c.5062A>G (p.Ile1688Val) c.5008A>G (p.Ile1670Val) c.4900A>G (p.Ile1634Val) c.4963A>G (p.Ile1655Val) c.4933A>G (p.Ile1645Val) c.5005A>G (p.Ile1669Val) | |
| 3 | g.38551310T>G | CA352142542 | SCN5A | c.5059A>C (p.Ile1687Leu) c.5062A>C (p.Ile1688Leu) c.5008A>C (p.Ile1670Leu) c.4900A>C (p.Ile1634Leu) c.4963A>C (p.Ile1655Leu) c.4933A>C (p.Ile1645Leu) c.5005A>C (p.Ile1669Leu) | |
| 3 | g.38551311G>A | CA433332048 | SCN5A | c.5058C>T (p.Gly1686=) c.5061C>T (p.Gly1687=) c.5007C>T (p.Gly1669=) c.4899C>T (p.Gly1633=) c.4962C>T (p.Gly1654=) c.4932C>T (p.Gly1644=) c.5004C>T (p.Gly1668=) | dbSNP |
| 3 | g.38551311G>C | CA433332049 | SCN5A | c.5058C>G (p.Gly1686=) c.5061C>G (p.Gly1687=) c.5007C>G (p.Gly1669=) c.4899C>G (p.Gly1633=) c.4962C>G (p.Gly1654=) c.4932C>G (p.Gly1644=) c.5004C>G (p.Gly1668=) | |
| 3 | g.38551311G= | CA1358557834 | SCN5A | c.5058C= (p.Gly1686=) c.5061C= (p.Gly1687=) c.5007C= (p.Gly1669=) c.4899C= (p.Gly1633=) c.4962C= (p.Gly1654=) c.4932C= (p.Gly1644=) c.5004C= (p.Gly1668=) | |
| 3 | g.38551311G>T | CA433332050 | SCN5A | c.5058C>A (p.Gly1686=) c.5061C>A (p.Gly1687=) c.5007C>A (p.Gly1669=) c.4899C>A (p.Gly1633=) c.4962C>A (p.Gly1654=) c.4932C>A (p.Gly1644=) c.5004C>A (p.Gly1668=) | gnomAD v4 |
| 3 | g.38551313_38551314insGCGGCC | CA2586965821 | SCN5A | c.5058_5059insCGCGGC (p.Gly1686_Ile1687insArgGly) c.5061_5062insCGCGGC (p.Gly1687_Ile1688insArgGly) c.5007_5008insCGCGGC (p.Gly1669_Ile1670insArgGly) c.4899_4900insCGCGGC (p.Gly1633_Ile1634insArgGly) c.4962_4963insCGCGGC (p.Gly1654_Ile1655insArgGly) c.4932_4933insCGCGGC (p.Gly1644_Ile1645insArgGly) c.5004_5005insCGCGGC (p.Gly1668_Ile1669insArgGly) | |
| 3 | g.38551312C>A | CA352142544 | SCN5A | c.5057G>T (p.Gly1686Val) c.5060G>T (p.Gly1687Val) c.5006G>T (p.Gly1669Val) c.4898G>T (p.Gly1633Val) c.4961G>T (p.Gly1654Val) c.4931G>T (p.Gly1644Val) c.5003G>T (p.Gly1668Val) | |
| 3 | g.38551312C>G | CA352142546 | SCN5A | c.5057G>C (p.Gly1686Ala) c.5060G>C (p.Gly1687Ala) c.5006G>C (p.Gly1669Ala) c.4898G>C (p.Gly1633Ala) c.4961G>C (p.Gly1654Ala) c.4931G>C (p.Gly1644Ala) c.5003G>C (p.Gly1668Ala) | |
| 3 | g.38551312C>T | CA352142548 | SCN5A | c.5057G>A (p.Gly1686Asp) c.5060G>A (p.Gly1687Asp) c.5006G>A (p.Gly1669Asp) c.4898G>A (p.Gly1633Asp) c.4961G>A (p.Gly1654Asp) c.4931G>A (p.Gly1644Asp) c.5003G>A (p.Gly1668Asp) | ClinVar |
| 3 | g.38551313C>A | CA352142550 | SCN5A | c.5056G>T (p.Gly1686Cys) c.5059G>T (p.Gly1687Cys) c.5005G>T (p.Gly1669Cys) c.4897G>T (p.Gly1633Cys) c.4960G>T (p.Gly1654Cys) c.4930G>T (p.Gly1644Cys) c.5002G>T (p.Gly1668Cys) | |
| 3 | g.38551313C>G | CA352142552 | SCN5A | c.5056G>C (p.Gly1686Arg) c.5059G>C (p.Gly1687Arg) c.5005G>C (p.Gly1669Arg) c.4897G>C (p.Gly1633Arg) c.4960G>C (p.Gly1654Arg) c.4930G>C (p.Gly1644Arg) c.5002G>C (p.Gly1668Arg) | |
| 3 | g.38551313C>T | CA352142554 | SCN5A | c.5056G>A (p.Gly1686Ser) c.5059G>A (p.Gly1687Ser) c.5005G>A (p.Gly1669Ser) c.4897G>A (p.Gly1633Ser) c.4960G>A (p.Gly1654Ser) c.4930G>A (p.Gly1644Ser) c.5002G>A (p.Gly1668Ser) | COSMIC COSMIC COSMIC |
| 3 | g.38551314A>C | CA433332054 | SCN5A | c.5055T>G (p.Ala1685=) c.5058T>G (p.Ala1686=) c.5004T>G (p.Ala1668=) c.4896T>G (p.Ala1632=) c.4959T>G (p.Ala1653=) c.4929T>G (p.Ala1643=) c.5001T>G (p.Ala1667=) | |
| 3 | g.38551314A>G | CA433332055 | SCN5A | c.5055T>C (p.Ala1685=) c.5058T>C (p.Ala1686=) c.5004T>C (p.Ala1668=) c.4896T>C (p.Ala1632=) c.4959T>C (p.Ala1653=) c.4929T>C (p.Ala1643=) c.5001T>C (p.Ala1667=) | |
| 3 | g.38551314A>T | CA433332056 | SCN5A | c.5055T>A (p.Ala1685=) c.5058T>A (p.Ala1686=) c.5004T>A (p.Ala1668=) c.4896T>A (p.Ala1632=) c.4959T>A (p.Ala1653=) c.4929T>A (p.Ala1643=) c.5001T>A (p.Ala1667=) | |
| 3 | g.38551315G>A | CA352142555 | SCN5A | c.5054C>T (p.Ala1685Val) c.5057C>T (p.Ala1686Val) c.5003C>T (p.Ala1668Val) c.4895C>T (p.Ala1632Val) c.4958C>T (p.Ala1653Val) c.4928C>T (p.Ala1643Val) c.5000C>T (p.Ala1667Val) | |
| 3 | g.38551315G>C | CA352142557 | SCN5A | c.5054C>G (p.Ala1685Gly) c.5057C>G (p.Ala1686Gly) c.5003C>G (p.Ala1668Gly) c.4895C>G (p.Ala1632Gly) c.4958C>G (p.Ala1653Gly) c.4928C>G (p.Ala1643Gly) c.5000C>G (p.Ala1667Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38551315G= | CA1358557837 | SCN5A | c.5054C= (p.Ala1685=) c.5057C= (p.Ala1686=) c.5003C= (p.Ala1668=) c.4895C= (p.Ala1632=) c.4958C= (p.Ala1653=) c.4928C= (p.Ala1643=) c.5000C= (p.Ala1667=) | |
| 3 | g.38551315G>T | CA352142559 | SCN5A | c.5054C>A (p.Ala1685Asp) c.5057C>A (p.Ala1686Asp) c.5003C>A (p.Ala1668Asp) c.4895C>A (p.Ala1632Asp) c.4958C>A (p.Ala1653Asp) c.4928C>A (p.Ala1643Asp) c.5000C>A (p.Ala1667Asp) | |
| 3 | g.38551316C>A | CA352142565 | SCN5A | c.5053G>T (p.Ala1685Ser) c.5056G>T (p.Ala1686Ser) c.5002G>T (p.Ala1668Ser) c.4894G>T (p.Ala1632Ser) c.4957G>T (p.Ala1653Ser) c.4927G>T (p.Ala1643Ser) c.4999G>T (p.Ala1667Ser) | gnomAD v4 |
| 3 | g.38551316C>G | CA352142561 | SCN5A | c.5053G>C (p.Ala1685Pro) c.5056G>C (p.Ala1686Pro) c.5002G>C (p.Ala1668Pro) c.4894G>C (p.Ala1632Pro) c.4957G>C (p.Ala1653Pro) c.4927G>C (p.Ala1643Pro) c.4999G>C (p.Ala1667Pro) | gnomAD v4 |
| 3 | g.38551316C>T | CA352142563 | SCN5A | c.5053G>A (p.Ala1685Thr) c.5056G>A (p.Ala1686Thr) c.5002G>A (p.Ala1668Thr) c.4894G>A (p.Ala1632Thr) c.4957G>A (p.Ala1653Thr) c.4927G>A (p.Ala1643Thr) c.4999G>A (p.Ala1667Thr) | |
| 3 | g.38551317C>A | CA352142567 | SCN5A | c.5052G>T (p.Glu1684Asp) c.5055G>T (p.Glu1685Asp) c.5001G>T (p.Glu1667Asp) c.4893G>T (p.Glu1631Asp) c.4956G>T (p.Glu1652Asp) c.4926G>T (p.Glu1642Asp) c.4998G>T (p.Glu1666Asp) | gnomAD v4 |
| 3 | g.38551317C>G | CA352142568 | SCN5A | c.5052G>C (p.Glu1684Asp) c.5055G>C (p.Glu1685Asp) c.5001G>C (p.Glu1667Asp) c.4893G>C (p.Glu1631Asp) c.4956G>C (p.Glu1652Asp) c.4926G>C (p.Glu1642Asp) c.4998G>C (p.Glu1666Asp) | |
| 3 | g.38551317C>T | CA433332058 | SCN5A | c.5052G>A (p.Glu1684=) c.5055G>A (p.Glu1685=) c.5001G>A (p.Glu1667=) c.4893G>A (p.Glu1631=) c.4956G>A (p.Glu1652=) c.4926G>A (p.Glu1642=) c.4998G>A (p.Glu1666=) | |
| 3 | g.38551318T>A | CA352142569 | SCN5A | c.5051A>T (p.Glu1684Val) c.5054A>T (p.Glu1685Val) c.5000A>T (p.Glu1667Val) c.4892A>T (p.Glu1631Val) c.4955A>T (p.Glu1652Val) c.4925A>T (p.Glu1642Val) c.4997A>T (p.Glu1666Val) | gnomAD v4 |
| 3 | g.38551318T>C | CA352142570 | SCN5A | c.5051A>G (p.Glu1684Gly) c.5054A>G (p.Glu1685Gly) c.5000A>G (p.Glu1667Gly) c.4892A>G (p.Glu1631Gly) c.4955A>G (p.Glu1652Gly) c.4925A>G (p.Glu1642Gly) c.4997A>G (p.Glu1666Gly) | |
| 3 | g.38551318T>G | CA352142572 | SCN5A | c.5051A>C (p.Glu1684Ala) c.5054A>C (p.Glu1685Ala) c.5000A>C (p.Glu1667Ala) c.4892A>C (p.Glu1631Ala) c.4955A>C (p.Glu1652Ala) c.4925A>C (p.Glu1642Ala) c.4997A>C (p.Glu1666Ala) | |
| 3 | g.38551319C>A | CA352142574 | SCN5A | c.5050G>T (p.Glu1684Ter) c.5053G>T (p.Glu1685Ter) c.4999G>T (p.Glu1667Ter) c.4891G>T (p.Glu1631Ter) c.4954G>T (p.Glu1652Ter) c.4924G>T (p.Glu1642Ter) c.4996G>T (p.Glu1666Ter) | dbSNP |
| 3 | g.38551319C= | CA1358557840 | SCN5A | c.5050G= (p.Glu1684=) c.5053G= (p.Glu1685=) c.4999G= (p.Glu1667=) c.4891G= (p.Glu1631=) c.4954G= (p.Glu1652=) c.4924G= (p.Glu1642=) c.4996G= (p.Glu1666=) | |
| 3 | g.38551319C>G | CA352142575 | SCN5A | c.5050G>C (p.Glu1684Gln) c.5053G>C (p.Glu1685Gln) c.4999G>C (p.Glu1667Gln) c.4891G>C (p.Glu1631Gln) c.4954G>C (p.Glu1652Gln) c.4924G>C (p.Glu1642Gln) c.4996G>C (p.Glu1666Gln) | |
| 3 | g.38551319C>T | CA352142577 | SCN5A | c.5050G>A (p.Glu1684Lys) c.5053G>A (p.Glu1685Lys) c.4999G>A (p.Glu1667Lys) c.4891G>A (p.Glu1631Lys) c.4954G>A (p.Glu1652Lys) c.4924G>A (p.Glu1642Lys) c.4996G>A (p.Glu1666Lys) | dbSNP |
| 3 | g.38551320C>A | CA352142580 | SCN5A | c.5049G>T (p.Trp1683Cys) c.5052G>T (p.Trp1684Cys) c.4998G>T (p.Trp1666Cys) c.4890G>T (p.Trp1630Cys) c.4953G>T (p.Trp1651Cys) c.4923G>T (p.Trp1641Cys) c.4995G>T (p.Trp1665Cys) | |
| 3 | g.38551320C= | CA1358557842 | SCN5A | c.5049G= (p.Trp1683=) c.5052G= (p.Trp1684=) c.4998G= (p.Trp1666=) c.4890G= (p.Trp1630=) c.4953G= (p.Trp1651=) c.4923G= (p.Trp1641=) c.4995G= (p.Trp1665=) | |
| 3 | g.38551320C>G | CA352142581 | SCN5A | c.5049G>C (p.Trp1683Cys) c.5052G>C (p.Trp1684Cys) c.4998G>C (p.Trp1666Cys) c.4890G>C (p.Trp1630Cys) c.4953G>C (p.Trp1651Cys) c.4923G>C (p.Trp1641Cys) c.4995G>C (p.Trp1665Cys) | |
| 3 | g.38551320C>T | CA352142583 | SCN5A | c.5049G>A (p.Trp1683Ter) c.5052G>A (p.Trp1684Ter) c.4998G>A (p.Trp1666Ter) c.4890G>A (p.Trp1630Ter) c.4953G>A (p.Trp1651Ter) c.4923G>A (p.Trp1641Ter) c.4995G>A (p.Trp1665Ter) | dbSNP |
| 3 | g.38551321C>A | CA352142587 | SCN5A | c.5048G>T (p.Trp1683Leu) c.5051G>T (p.Trp1684Leu) c.4997G>T (p.Trp1666Leu) c.4889G>T (p.Trp1630Leu) c.4952G>T (p.Trp1651Leu) c.4922G>T (p.Trp1641Leu) c.4994G>T (p.Trp1665Leu) | |
| 3 | g.38551321C>G | CA352142589 | SCN5A | c.5048G>C (p.Trp1683Ser) c.5051G>C (p.Trp1684Ser) c.4997G>C (p.Trp1666Ser) c.4889G>C (p.Trp1630Ser) c.4952G>C (p.Trp1651Ser) c.4922G>C (p.Trp1641Ser) c.4994G>C (p.Trp1665Ser) | |
| 3 | g.38551321C>T | CA352142585 | SCN5A | c.5048G>A (p.Trp1683Ter) c.5051G>A (p.Trp1684Ter) c.4997G>A (p.Trp1666Ter) c.4889G>A (p.Trp1630Ter) c.4952G>A (p.Trp1651Ter) c.4922G>A (p.Trp1641Ter) c.4994G>A (p.Trp1665Ter) | |
| 3 | g.38551322A= | CA1358557844 | SCN5A | c.5047T= (p.Trp1683=) c.5050T= (p.Trp1684=) c.4996T= (p.Trp1666=) c.4888T= (p.Trp1630=) c.4951T= (p.Trp1651=) c.4921T= (p.Trp1641=) c.4993T= (p.Trp1665=) | |
| 3 | g.38551322A>C | CA352142595 | SCN5A | c.5047T>G (p.Trp1683Gly) c.5050T>G (p.Trp1684Gly) c.4996T>G (p.Trp1666Gly) c.4888T>G (p.Trp1630Gly) c.4951T>G (p.Trp1651Gly) c.4921T>G (p.Trp1641Gly) c.4993T>G (p.Trp1665Gly) | ClinVar |
| 3 | g.38551322A>G | CA352142591 | SCN5A | c.5047T>C (p.Trp1683Arg) c.5050T>C (p.Trp1684Arg) c.4996T>C (p.Trp1666Arg) c.4888T>C (p.Trp1630Arg) c.4951T>C (p.Trp1651Arg) c.4921T>C (p.Trp1641Arg) c.4993T>C (p.Trp1665Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38551322A>T | CA352142593 | SCN5A | c.5047T>A (p.Trp1683Arg) c.5050T>A (p.Trp1684Arg) c.4996T>A (p.Trp1666Arg) c.4888T>A (p.Trp1630Arg) c.4951T>A (p.Trp1651Arg) c.4921T>A (p.Trp1641Arg) c.4993T>A (p.Trp1665Arg) | |
| 3 | g.38551323C>A | CA352142597 | SCN5A | c.5046G>T (p.Lys1682Asn) c.5049G>T (p.Lys1683Asn) c.4995G>T (p.Lys1665Asn) c.4887G>T (p.Lys1629Asn) c.4950G>T (p.Lys1650Asn) c.4920G>T (p.Lys1640Asn) c.4992G>T (p.Lys1664Asn) | |
| 3 | g.38551323C>G | CA352142598 | SCN5A | c.5046G>C (p.Lys1682Asn) c.5049G>C (p.Lys1683Asn) c.4995G>C (p.Lys1665Asn) c.4887G>C (p.Lys1629Asn) c.4950G>C (p.Lys1650Asn) c.4920G>C (p.Lys1640Asn) c.4992G>C (p.Lys1664Asn) | |
| 3 | g.38551323C>T | CA433332063 | SCN5A | c.5046G>A (p.Lys1682=) c.5049G>A (p.Lys1683=) c.4995G>A (p.Lys1665=) c.4887G>A (p.Lys1629=) c.4950G>A (p.Lys1650=) c.4920G>A (p.Lys1640=) c.4992G>A (p.Lys1664=) | gnomAD v4 |
| 3 | g.38551324T>A | CA352142601 | SCN5A | c.5045A>T (p.Lys1682Met) c.5048A>T (p.Lys1683Met) c.4994A>T (p.Lys1665Met) c.4886A>T (p.Lys1629Met) c.4949A>T (p.Lys1650Met) c.4919A>T (p.Lys1640Met) c.4991A>T (p.Lys1664Met) | |
| 3 | g.38551324T>C | CA352142602 | SCN5A | c.5045A>G (p.Lys1682Arg) c.5048A>G (p.Lys1683Arg) c.4994A>G (p.Lys1665Arg) c.4886A>G (p.Lys1629Arg) c.4949A>G (p.Lys1650Arg) c.4919A>G (p.Lys1640Arg) c.4991A>G (p.Lys1664Arg) | |
| 3 | g.38551324T>G | CA352142603 | SCN5A | c.5045A>C (p.Lys1682Thr) c.5048A>C (p.Lys1683Thr) c.4994A>C (p.Lys1665Thr) c.4886A>C (p.Lys1629Thr) c.4949A>C (p.Lys1650Thr) c.4919A>C (p.Lys1640Thr) c.4991A>C (p.Lys1664Thr) | |
| 3 | g.38551325T>A | CA352142605 | SCN5A | c.5044A>T (p.Lys1682Ter) c.5047A>T (p.Lys1683Ter) c.4993A>T (p.Lys1665Ter) c.4885A>T (p.Lys1629Ter) c.4948A>T (p.Lys1650Ter) c.4918A>T (p.Lys1640Ter) c.4990A>T (p.Lys1664Ter) | dbSNP |
| 3 | g.38551325T>C | CA352142607 | SCN5A | c.5044A>G (p.Lys1682Glu) c.5047A>G (p.Lys1683Glu) c.4993A>G (p.Lys1665Glu) c.4885A>G (p.Lys1629Glu) c.4948A>G (p.Lys1650Glu) c.4918A>G (p.Lys1640Glu) c.4990A>G (p.Lys1664Glu) | |
| 3 | g.38551325T>G | CA352142608 | SCN5A | c.5044A>C (p.Lys1682Gln) c.5047A>C (p.Lys1683Gln) c.4993A>C (p.Lys1665Gln) c.4885A>C (p.Lys1629Gln) c.4948A>C (p.Lys1650Gln) c.4918A>C (p.Lys1640Gln) c.4990A>C (p.Lys1664Gln) | |
| 3 | g.38551325T= | CA1358557846 | SCN5A | c.5044A= (p.Lys1682=) c.5047A= (p.Lys1683=) c.4993A= (p.Lys1665=) c.4885A= (p.Lys1629=) c.4948A= (p.Lys1650=) c.4918A= (p.Lys1640=) c.4990A= (p.Lys1664=) | |
| 3 | g.38551326G>A | CA433332065 | SCN5A | c.5043C>T (p.Val1681=) c.5046C>T (p.Val1682=) c.4992C>T (p.Val1664=) c.4884C>T (p.Val1628=) c.4947C>T (p.Val1649=) c.4917C>T (p.Val1639=) c.4989C>T (p.Val1663=) | |
| 3 | g.38551326G>C | CA433332066 | SCN5A | c.5043C>G (p.Val1681=) c.5046C>G (p.Val1682=) c.4992C>G (p.Val1664=) c.4884C>G (p.Val1628=) c.4947C>G (p.Val1649=) c.4917C>G (p.Val1639=) c.4989C>G (p.Val1663=) | |
| 3 | g.38551326G>T | CA433332067 | SCN5A | c.5043C>A (p.Val1681=) c.5046C>A (p.Val1682=) c.4992C>A (p.Val1664=) c.4884C>A (p.Val1628=) c.4947C>A (p.Val1649=) c.4917C>A (p.Val1639=) c.4989C>A (p.Val1663=) | |
| 3 | g.38551327A>C | CA352142610 | SCN5A | c.5042T>G (p.Val1681Gly) c.5045T>G (p.Val1682Gly) c.4991T>G (p.Val1664Gly) c.4883T>G (p.Val1628Gly) c.4946T>G (p.Val1649Gly) c.4916T>G (p.Val1639Gly) c.4988T>G (p.Val1663Gly) | |
| 3 | g.38551327A>G | CA352142612 | SCN5A | c.5042T>C (p.Val1681Ala) c.5045T>C (p.Val1682Ala) c.4991T>C (p.Val1664Ala) c.4883T>C (p.Val1628Ala) c.4946T>C (p.Val1649Ala) c.4916T>C (p.Val1639Ala) c.4988T>C (p.Val1663Ala) | |
| 3 | g.38551327A>T | CA352142614 | SCN5A | c.5042T>A (p.Val1681Asp) c.5045T>A (p.Val1682Asp) c.4991T>A (p.Val1664Asp) c.4883T>A (p.Val1628Asp) c.4946T>A (p.Val1649Asp) c.4916T>A (p.Val1639Asp) c.4988T>A (p.Val1663Asp) | ClinVar gnomAD v4 |
| 3 | g.38551328C>A | CA352142620 | SCN5A | c.5041G>T (p.Val1681Phe) c.5044G>T (p.Val1682Phe) c.4990G>T (p.Val1664Phe) c.4882G>T (p.Val1628Phe) c.4945G>T (p.Val1649Phe) c.4915G>T (p.Val1639Phe) c.4987G>T (p.Val1663Phe) | |
| 3 | g.38551328C>G | CA352142618 | SCN5A | c.5041G>C (p.Val1681Leu) c.5044G>C (p.Val1682Leu) c.4990G>C (p.Val1664Leu) c.4882G>C (p.Val1628Leu) c.4945G>C (p.Val1649Leu) c.4915G>C (p.Val1639Leu) c.4987G>C (p.Val1663Leu) | |
| 3 | g.38551328C>T | CA352142617 | SCN5A | c.5041G>A (p.Val1681Ile) c.5044G>A (p.Val1682Ile) c.4990G>A (p.Val1664Ile) c.4882G>A (p.Val1628Ile) c.4945G>A (p.Val1649Ile) c.4915G>A (p.Val1639Ile) c.4987G>A (p.Val1663Ile) | gnomAD v4 |
| 3 | g.38551329A= | CA1358557848 | SCN5A | c.5040T= (p.Tyr1680=) c.5043T= (p.Tyr1681=) c.4989T= (p.Tyr1663=) c.4881T= (p.Tyr1627=) c.4944T= (p.Tyr1648=) c.4914T= (p.Tyr1638=) c.4986T= (p.Tyr1662=) | |
| 3 | g.38551329A>C | CA352142623 | SCN5A | c.5040T>G (p.Tyr1680Ter) c.5043T>G (p.Tyr1681Ter) c.4989T>G (p.Tyr1663Ter) c.4881T>G (p.Tyr1627Ter) c.4944T>G (p.Tyr1648Ter) c.4914T>G (p.Tyr1638Ter) c.4986T>G (p.Tyr1662Ter) | |
| 3 | g.38551329A>G | CA433332069 | SCN5A | c.5040T>C (p.Tyr1680=) c.5043T>C (p.Tyr1681=) c.4989T>C (p.Tyr1663=) c.4881T>C (p.Tyr1627=) c.4944T>C (p.Tyr1648=) c.4914T>C (p.Tyr1638=) c.4986T>C (p.Tyr1662=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38551329A>T | CA352142624 | SCN5A | c.5040T>A (p.Tyr1680Ter) c.5043T>A (p.Tyr1681Ter) c.4989T>A (p.Tyr1663Ter) c.4881T>A (p.Tyr1627Ter) c.4944T>A (p.Tyr1648Ter) c.4914T>A (p.Tyr1638Ter) c.4986T>A (p.Tyr1662Ter) | |
| 3 | g.38551330_38551332del | CA2573332691 | SCN5A | c.5038_5040del (p.Tyr1680del) c.5041_5043del (p.Tyr1681del) c.4987_4989del (p.Tyr1663del) c.4879_4881del (p.Tyr1627del) c.4942_4944del (p.Tyr1648del) c.4912_4914del (p.Tyr1638del) c.4984_4986del (p.Tyr1662del) | |
| 3 | g.38551330T>A | CA064087 | SCN5A | c.5039A>T (p.Tyr1680Phe) c.5042A>T (p.Tyr1681Phe) c.4988A>T (p.Tyr1663Phe) c.4880A>T (p.Tyr1627Phe) c.4943A>T (p.Tyr1648Phe) c.4913A>T (p.Tyr1638Phe) c.4985A>T (p.Tyr1662Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38551330T>C | CA352142627 | SCN5A | c.5039A>G (p.Tyr1680Cys) c.5042A>G (p.Tyr1681Cys) c.4988A>G (p.Tyr1663Cys) c.4880A>G (p.Tyr1627Cys) c.4943A>G (p.Tyr1648Cys) c.4913A>G (p.Tyr1638Cys) c.4985A>G (p.Tyr1662Cys) | ClinVar |
| 3 | g.38551330T>G | CA352142629 | SCN5A | c.5039A>C (p.Tyr1680Ser) c.5042A>C (p.Tyr1681Ser) c.4988A>C (p.Tyr1663Ser) c.4880A>C (p.Tyr1627Ser) c.4943A>C (p.Tyr1648Ser) c.4913A>C (p.Tyr1638Ser) c.4985A>C (p.Tyr1662Ser) | |
| 3 | g.38551330T= | CA1358557851 | SCN5A | c.5039A= (p.Tyr1680=) c.5042A= (p.Tyr1681=) c.4988A= (p.Tyr1663=) c.4880A= (p.Tyr1627=) c.4943A= (p.Tyr1648=) c.4913A= (p.Tyr1638=) c.4985A= (p.Tyr1662=) | |
| 3 | g.38551330_38551332delinsG | CA2586965822 | SCN5A | c.5037_5039delinsC (p.Tyr1680CysfsTer?) c.5040_5042delinsC (p.Tyr1681CysfsTer?) c.4986_4988delinsC (p.Tyr1663CysfsTer?) c.4878_4880delinsC (p.Tyr1627CysfsTer?) c.4941_4943delinsC (p.Tyr1648CysfsTer?) c.4911_4913delinsC (p.Tyr1638CysfsTer?) c.4983_4985delinsC (p.Tyr1662CysfsTer?) | |
| 3 | g.38551331A>C | CA352142631 | SCN5A | c.5038T>G (p.Tyr1680Asp) c.5041T>G (p.Tyr1681Asp) c.4987T>G (p.Tyr1663Asp) c.4879T>G (p.Tyr1627Asp) c.4942T>G (p.Tyr1648Asp) c.4912T>G (p.Tyr1638Asp) c.4984T>G (p.Tyr1662Asp) | |
| 3 | g.38551331A>G | CA352142633 | SCN5A | c.5038T>C (p.Tyr1680His) c.5041T>C (p.Tyr1681His) c.4987T>C (p.Tyr1663His) c.4879T>C (p.Tyr1627His) c.4942T>C (p.Tyr1648His) c.4912T>C (p.Tyr1638His) c.4984T>C (p.Tyr1662His) | |
| 3 | g.38551331A>T | CA352142635 | SCN5A | c.5038T>A (p.Tyr1680Asn) c.5041T>A (p.Tyr1681Asn) c.4987T>A (p.Tyr1663Asn) c.4879T>A (p.Tyr1627Asn) c.4942T>A (p.Tyr1648Asn) c.4912T>A (p.Tyr1638Asn) c.4984T>A (p.Tyr1662Asn) | |
| 3 | g.38551332A>C | CA433332076 | SCN5A | c.5037T>G (p.Ala1679=) c.5040T>G (p.Ala1680=) c.4986T>G (p.Ala1662=) c.4878T>G (p.Ala1626=) c.4941T>G (p.Ala1647=) c.4911T>G (p.Ala1637=) c.4983T>G (p.Ala1661=) | |
| 3 | g.38551332A>G | CA433332077 | SCN5A | c.5037T>C (p.Ala1679=) c.5040T>C (p.Ala1680=) c.4986T>C (p.Ala1662=) c.4878T>C (p.Ala1626=) c.4941T>C (p.Ala1647=) c.4911T>C (p.Ala1637=) c.4983T>C (p.Ala1661=) | ClinVar |
| 3 | g.38551332A>T | CA433332080 | SCN5A | c.5037T>A (p.Ala1679=) c.5040T>A (p.Ala1680=) c.4986T>A (p.Ala1662=) c.4878T>A (p.Ala1626=) c.4941T>A (p.Ala1647=) c.4911T>A (p.Ala1637=) c.4983T>A (p.Ala1661=) | |
| 3 | g.38551333G>A | CA352142637 | SCN5A | c.5036C>T (p.Ala1679Val) c.5039C>T (p.Ala1680Val) c.4985C>T (p.Ala1662Val) c.4877C>T (p.Ala1626Val) c.4940C>T (p.Ala1647Val) c.4910C>T (p.Ala1637Val) c.4982C>T (p.Ala1661Val) | |
| 3 | g.38551333G>C | CA352142639 | SCN5A | c.5036C>G (p.Ala1679Gly) c.5039C>G (p.Ala1680Gly) c.4985C>G (p.Ala1662Gly) c.4877C>G (p.Ala1626Gly) c.4940C>G (p.Ala1647Gly) c.4910C>G (p.Ala1637Gly) c.4982C>G (p.Ala1661Gly) | |
| 3 | g.38551333G>T | CA352142641 | SCN5A | c.5036C>A (p.Ala1679Asp) c.5039C>A (p.Ala1680Asp) c.4985C>A (p.Ala1662Asp) c.4877C>A (p.Ala1626Asp) c.4940C>A (p.Ala1647Asp) c.4910C>A (p.Ala1637Asp) c.4982C>A (p.Ala1661Asp) | |
| 3 | g.38551334C>A | CA352142643 | SCN5A | c.5035G>T (p.Ala1679Ser) c.5038G>T (p.Ala1680Ser) c.4984G>T (p.Ala1662Ser) c.4876G>T (p.Ala1626Ser) c.4939G>T (p.Ala1647Ser) c.4909G>T (p.Ala1637Ser) c.4981G>T (p.Ala1661Ser) | |
| 3 | g.38551334C= | CA1358557858 | SCN5A | c.5035G= (p.Ala1679=) c.5038G= (p.Ala1680=) c.4984G= (p.Ala1662=) c.4876G= (p.Ala1626=) c.4939G= (p.Ala1647=) c.4909G= (p.Ala1637=) c.4981G= (p.Ala1661=) | |
| 3 | g.38551334C>G | CA352142645 | SCN5A | c.5035G>C (p.Ala1679Pro) c.5038G>C (p.Ala1680Pro) c.4984G>C (p.Ala1662Pro) c.4876G>C (p.Ala1626Pro) c.4939G>C (p.Ala1647Pro) c.4909G>C (p.Ala1637Pro) c.4981G>C (p.Ala1661Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38551334C>T | CA018863 | SCN5A | c.5035G>A (p.Ala1679Thr) c.5038G>A (p.Ala1680Thr) c.4984G>A (p.Ala1662Thr) c.4876G>A (p.Ala1626Thr) c.4939G>A (p.Ala1647Thr) c.4909G>A (p.Ala1637Thr) c.4981G>A (p.Ala1661Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.38551335G>A | CA72938199 | SCN5A | c.5034C>T (p.Phe1678=) c.5037C>T (p.Phe1679=) c.4983C>T (p.Phe1661=) c.4875C>T (p.Phe1625=) c.4938C>T (p.Phe1646=) c.4908C>T (p.Phe1636=) c.4980C>T (p.Phe1660=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.38551335G>C | CA352142650 | SCN5A | c.5034C>G (p.Phe1678Leu) c.5037C>G (p.Phe1679Leu) c.4983C>G (p.Phe1661Leu) c.4875C>G (p.Phe1625Leu) c.4938C>G (p.Phe1646Leu) c.4908C>G (p.Phe1636Leu) c.4980C>G (p.Phe1660Leu) | |
| 3 | g.38551335G= | CA1358557865 | SCN5A | c.5034C= (p.Phe1678=) c.5037C= (p.Phe1679=) c.4983C= (p.Phe1661=) c.4875C= (p.Phe1625=) c.4938C= (p.Phe1646=) c.4908C= (p.Phe1636=) c.4980C= (p.Phe1660=) | |
| 3 | g.38551335G>T | CA352142647 | SCN5A | c.5034C>A (p.Phe1678Leu) c.5037C>A (p.Phe1679Leu) c.4983C>A (p.Phe1661Leu) c.4875C>A (p.Phe1625Leu) c.4938C>A (p.Phe1646Leu) c.4908C>A (p.Phe1636Leu) c.4980C>A (p.Phe1660Leu) | |
| 3 | g.38551336A>C | CA352142651 | SCN5A | c.5033T>G (p.Phe1678Cys) c.5036T>G (p.Phe1679Cys) c.4982T>G (p.Phe1661Cys) c.4874T>G (p.Phe1625Cys) c.4937T>G (p.Phe1646Cys) c.4907T>G (p.Phe1636Cys) c.4979T>G (p.Phe1660Cys) | |
| 3 | g.38551336A>G | CA352142652 | SCN5A | c.5033T>C (p.Phe1678Ser) c.5036T>C (p.Phe1679Ser) c.4982T>C (p.Phe1661Ser) c.4874T>C (p.Phe1625Ser) c.4937T>C (p.Phe1646Ser) c.4907T>C (p.Phe1636Ser) c.4979T>C (p.Phe1660Ser) | |
| 3 | g.38551336A>T | CA352142655 | SCN5A | c.5033T>A (p.Phe1678Tyr) c.5036T>A (p.Phe1679Tyr) c.4982T>A (p.Phe1661Tyr) c.4874T>A (p.Phe1625Tyr) c.4937T>A (p.Phe1646Tyr) c.4907T>A (p.Phe1636Tyr) c.4979T>A (p.Phe1660Tyr) | |
| 3 | g.38551337A>C | CA352142657 | SCN5A | c.5032T>G (p.Phe1678Val) c.5035T>G (p.Phe1679Val) c.4981T>G (p.Phe1661Val) c.4873T>G (p.Phe1625Val) c.4936T>G (p.Phe1646Val) c.4906T>G (p.Phe1636Val) c.4978T>G (p.Phe1660Val) | |
| 3 | g.38551337A>G | CA352142658 | SCN5A | c.5032T>C (p.Phe1678Leu) c.5035T>C (p.Phe1679Leu) c.4981T>C (p.Phe1661Leu) c.4873T>C (p.Phe1625Leu) c.4936T>C (p.Phe1646Leu) c.4906T>C (p.Phe1636Leu) c.4978T>C (p.Phe1660Leu) | |
| 3 | g.38551337A>T | CA352142660 | SCN5A | c.5032T>A (p.Phe1678Ile) c.5035T>A (p.Phe1679Ile) c.4981T>A (p.Phe1661Ile) c.4873T>A (p.Phe1625Ile) c.4936T>A (p.Phe1646Ile) c.4906T>A (p.Phe1636Ile) c.4978T>A (p.Phe1660Ile) | ClinVar |
| 3 | g.38551338G>A | CA433332091 | SCN5A | c.5031C>T (p.Asn1677=) c.5034C>T (p.Asn1678=) c.4980C>T (p.Asn1660=) c.4872C>T (p.Asn1624=) c.4935C>T (p.Asn1645=) c.4905C>T (p.Asn1635=) c.4977C>T (p.Asn1659=) | |
| 3 | g.38551338G>C | CA352142662 | SCN5A | c.5031C>G (p.Asn1677Lys) c.5034C>G (p.Asn1678Lys) c.4980C>G (p.Asn1660Lys) c.4872C>G (p.Asn1624Lys) c.4935C>G (p.Asn1645Lys) c.4905C>G (p.Asn1635Lys) c.4977C>G (p.Asn1659Lys) | |
| 3 | g.38551338G>T | CA352142664 | SCN5A | c.5031C>A (p.Asn1677Lys) c.5034C>A (p.Asn1678Lys) c.4980C>A (p.Asn1660Lys) c.4872C>A (p.Asn1624Lys) c.4935C>A (p.Asn1645Lys) c.4905C>A (p.Asn1635Lys) c.4977C>A (p.Asn1659Lys) | |
| 3 | g.38551339T>A | CA352142666 | SCN5A | c.5030A>T (p.Asn1677Ile) c.5033A>T (p.Asn1678Ile) c.4979A>T (p.Asn1660Ile) c.4871A>T (p.Asn1624Ile) c.4934A>T (p.Asn1645Ile) c.4904A>T (p.Asn1635Ile) c.4976A>T (p.Asn1659Ile) | |
| 3 | g.38551339T>C | CA064075 | SCN5A | c.5030A>G (p.Asn1677Ser) c.5033A>G (p.Asn1678Ser) c.4979A>G (p.Asn1660Ser) c.4871A>G (p.Asn1624Ser) c.4934A>G (p.Asn1645Ser) c.4904A>G (p.Asn1635Ser) c.4976A>G (p.Asn1659Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38551339T>G | CA352142668 | SCN5A | c.5030A>C (p.Asn1677Thr) c.5033A>C (p.Asn1678Thr) c.4979A>C (p.Asn1660Thr) c.4871A>C (p.Asn1624Thr) c.4934A>C (p.Asn1645Thr) c.4904A>C (p.Asn1635Thr) c.4976A>C (p.Asn1659Thr) | |
| 3 | g.38551339T= | CA1358557871 | SCN5A | c.5030A= (p.Asn1677=) c.5033A= (p.Asn1678=) c.4979A= (p.Asn1660=) c.4871A= (p.Asn1624=) c.4934A= (p.Asn1645=) c.4904A= (p.Asn1635=) c.4976A= (p.Asn1659=) | |
| 3 | g.38551340T>A | CA352142674 | SCN5A | c.5029A>T (p.Asn1677Tyr) c.5032A>T (p.Asn1678Tyr) c.4978A>T (p.Asn1660Tyr) c.4870A>T (p.Asn1624Tyr) c.4933A>T (p.Asn1645Tyr) c.4903A>T (p.Asn1635Tyr) c.4975A>T (p.Asn1659Tyr) | |
| 3 | g.38551340T>C | CA352142673 | SCN5A | c.5029A>G (p.Asn1677Asp) c.5032A>G (p.Asn1678Asp) c.4978A>G (p.Asn1660Asp) c.4870A>G (p.Asn1624Asp) c.4933A>G (p.Asn1645Asp) c.4903A>G (p.Asn1635Asp) c.4975A>G (p.Asn1659Asp) | |
| 3 | g.38551340T>G | CA352142671 | SCN5A | c.5029A>C (p.Asn1677His) c.5032A>C (p.Asn1678His) c.4978A>C (p.Asn1660His) c.4870A>C (p.Asn1624His) c.4933A>C (p.Asn1645His) c.4903A>C (p.Asn1635His) c.4975A>C (p.Asn1659His) | |
| 3 | g.38551341G>A | CA433332093 | SCN5A | c.5028C>T (p.Ala1676=) c.5031C>T (p.Ala1677=) c.4977C>T (p.Ala1659=) c.4869C>T (p.Ala1623=) c.4932C>T (p.Ala1644=) c.4902C>T (p.Ala1634=) c.4974C>T (p.Ala1658=) | COSMIC COSMIC COSMIC |
| 3 | g.38551341G>C | CA433332095 | SCN5A | c.5028C>G (p.Ala1676=) c.5031C>G (p.Ala1677=) c.4977C>G (p.Ala1659=) c.4869C>G (p.Ala1623=) c.4932C>G (p.Ala1644=) c.4902C>G (p.Ala1634=) c.4974C>G (p.Ala1658=) | |
| 3 | g.38551341G>T | CA433332096 | SCN5A | c.5028C>A (p.Ala1676=) c.5031C>A (p.Ala1677=) c.4977C>A (p.Ala1659=) c.4869C>A (p.Ala1623=) c.4932C>A (p.Ala1644=) c.4902C>A (p.Ala1634=) c.4974C>A (p.Ala1658=) | |
| 3 | g.38551342G>A | CA352142676 | SCN5A | c.5027C>T (p.Ala1676Val) c.5030C>T (p.Ala1677Val) c.4976C>T (p.Ala1659Val) c.4868C>T (p.Ala1623Val) c.4931C>T (p.Ala1644Val) c.4901C>T (p.Ala1634Val) c.4973C>T (p.Ala1658Val) | |
| 3 | g.38551342G>C | CA352142678 | SCN5A | c.5027C>G (p.Ala1676Gly) c.5030C>G (p.Ala1677Gly) c.4976C>G (p.Ala1659Gly) c.4868C>G (p.Ala1623Gly) c.4931C>G (p.Ala1644Gly) c.4901C>G (p.Ala1634Gly) c.4973C>G (p.Ala1658Gly) | |
| 3 | g.38551342G>T | CA352142680 | SCN5A | c.5027C>A (p.Ala1676Asp) c.5030C>A (p.Ala1677Asp) c.4976C>A (p.Ala1659Asp) c.4868C>A (p.Ala1623Asp) c.4931C>A (p.Ala1644Asp) c.4901C>A (p.Ala1634Asp) c.4973C>A (p.Ala1658Asp) | |
| 3 | g.38551343C>A | CA352142682 | SCN5A | c.5026G>T (p.Ala1676Ser) c.5029G>T (p.Ala1677Ser) c.4975G>T (p.Ala1659Ser) c.4867G>T (p.Ala1623Ser) c.4930G>T (p.Ala1644Ser) c.4900G>T (p.Ala1634Ser) c.4972G>T (p.Ala1658Ser) | |
| 3 | g.38551343C>G | CA352142684 | SCN5A | c.5026G>C (p.Ala1676Pro) c.5029G>C (p.Ala1677Pro) c.4975G>C (p.Ala1659Pro) c.4867G>C (p.Ala1623Pro) c.4930G>C (p.Ala1644Pro) c.4900G>C (p.Ala1634Pro) c.4972G>C (p.Ala1658Pro) | ClinVar |
| 3 | g.38551343C>T | CA352142686 | SCN5A | c.5026G>A (p.Ala1676Thr) c.5029G>A (p.Ala1677Thr) c.4975G>A (p.Ala1659Thr) c.4867G>A (p.Ala1623Thr) c.4930G>A (p.Ala1644Thr) c.4900G>A (p.Ala1634Thr) c.4972G>A (p.Ala1658Thr) | COSMIC COSMIC COSMIC |
| 3 | g.38551344C>A | CA352142688 | SCN5A | c.5025G>T (p.Met1675Ile) c.5028G>T (p.Met1676Ile) c.4974G>T (p.Met1658Ile) c.4866G>T (p.Met1622Ile) c.4929G>T (p.Met1643Ile) c.4899G>T (p.Met1633Ile) c.4971G>T (p.Met1657Ile) | |
| 3 | g.38551344C= | CA1358557874 | SCN5A | c.5025G= (p.Met1675=) c.5028G= (p.Met1676=) c.4974G= (p.Met1658=) c.4866G= (p.Met1622=) c.4929G= (p.Met1643=) c.4899G= (p.Met1633=) c.4971G= (p.Met1657=) | |
| 3 | g.38551344C>G | CA352142690 | SCN5A | c.5025G>C (p.Met1675Ile) c.5028G>C (p.Met1676Ile) c.4974G>C (p.Met1658Ile) c.4866G>C (p.Met1622Ile) c.4929G>C (p.Met1643Ile) c.4899G>C (p.Met1633Ile) c.4971G>C (p.Met1657Ile) | |
| 3 | g.38551344C>T | CA064068 | SCN5A | c.5025G>A (p.Met1675Ile) c.5028G>A (p.Met1676Ile) c.4974G>A (p.Met1658Ile) c.4866G>A (p.Met1622Ile) c.4929G>A (p.Met1643Ile) c.4899G>A (p.Met1633Ile) c.4971G>A (p.Met1657Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 3 | g.38551345A= | CA1358557878 | SCN5A | c.5024T= (p.Met1675=) c.5027T= (p.Met1676=) c.4973T= (p.Met1658=) c.4865T= (p.Met1622=) c.4928T= (p.Met1643=) c.4898T= (p.Met1633=) c.4970T= (p.Met1657=) | |
| 3 | g.38551345A>C | CA352142693 | SCN5A | c.5024T>G (p.Met1675Arg) c.5027T>G (p.Met1676Arg) c.4973T>G (p.Met1658Arg) c.4865T>G (p.Met1622Arg) c.4928T>G (p.Met1643Arg) c.4898T>G (p.Met1633Arg) c.4970T>G (p.Met1657Arg) | |
| 3 | g.38551345A>G | CA018860 | SCN5A | c.5024T>C (p.Met1675Thr) c.5027T>C (p.Met1676Thr) c.4973T>C (p.Met1658Thr) c.4865T>C (p.Met1622Thr) c.4928T>C (p.Met1643Thr) c.4898T>C (p.Met1633Thr) c.4970T>C (p.Met1657Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38551345A>T | CA352142695 | SCN5A | c.5024T>A (p.Met1675Lys) c.5027T>A (p.Met1676Lys) c.4973T>A (p.Met1658Lys) c.4865T>A (p.Met1622Lys) c.4928T>A (p.Met1643Lys) c.4898T>A (p.Met1633Lys) c.4970T>A (p.Met1657Lys) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38551346T>A | CA352142700 | SCN5A | c.5023A>T (p.Met1675Leu) c.5026A>T (p.Met1676Leu) c.4972A>T (p.Met1658Leu) c.4864A>T (p.Met1622Leu) c.4927A>T (p.Met1643Leu) c.4897A>T (p.Met1633Leu) c.4969A>T (p.Met1657Leu) | |
| 3 | g.38551346T>C | CA018854 | SCN5A | c.5023A>G (p.Met1675Val) c.5026A>G (p.Met1676Val) c.4972A>G (p.Met1658Val) c.4864A>G (p.Met1622Val) c.4927A>G (p.Met1643Val) c.4897A>G (p.Met1633Val) c.4969A>G (p.Met1657Val) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38551346T>G | CA352142697 | SCN5A | c.5023A>C (p.Met1675Leu) c.5026A>C (p.Met1676Leu) c.4972A>C (p.Met1658Leu) c.4864A>C (p.Met1622Leu) c.4927A>C (p.Met1643Leu) c.4897A>C (p.Met1633Leu) c.4969A>C (p.Met1657Leu) | |
| 3 | g.38551346T= | CA1358557886 | SCN5A | c.5023A= (p.Met1675=) c.5026A= (p.Met1676=) c.4972A= (p.Met1658=) c.4864A= (p.Met1622=) c.4927A= (p.Met1643=) c.4897A= (p.Met1633=) c.4969A= (p.Met1657=) | |
| 3 | g.38551347G>A | CA433332102 | SCN5A | c.5022C>T (p.Gly1674=) c.5025C>T (p.Gly1675=) c.4971C>T (p.Gly1657=) c.4863C>T (p.Gly1621=) c.4926C>T (p.Gly1642=) c.4896C>T (p.Gly1632=) c.4968C>T (p.Gly1656=) | dbSNP gnomAD v2 |
| 3 | g.38551347G>C | CA433332103 | SCN5A | c.5022C>G (p.Gly1674=) c.5025C>G (p.Gly1675=) c.4971C>G (p.Gly1657=) c.4863C>G (p.Gly1621=) c.4926C>G (p.Gly1642=) c.4896C>G (p.Gly1632=) c.4968C>G (p.Gly1656=) | |
| 3 | g.38551347G= | CA1358557889 | SCN5A | c.5022C= (p.Gly1674=) c.5025C= (p.Gly1675=) c.4971C= (p.Gly1657=) c.4863C= (p.Gly1621=) c.4926C= (p.Gly1642=) c.4896C= (p.Gly1632=) c.4968C= (p.Gly1656=) | |
| 3 | g.38551347G>T | CA433332104 | SCN5A | c.5022C>A (p.Gly1674=) c.5025C>A (p.Gly1675=) c.4971C>A (p.Gly1657=) c.4863C>A (p.Gly1621=) c.4926C>A (p.Gly1642=) c.4896C>A (p.Gly1632=) c.4968C>A (p.Gly1656=) | |
| 3 | g.38551348C>A | CA352142702 | SCN5A | c.5021G>T (p.Gly1674Val) c.5024G>T (p.Gly1675Val) c.4970G>T (p.Gly1657Val) c.4862G>T (p.Gly1621Val) c.4925G>T (p.Gly1642Val) c.4895G>T (p.Gly1632Val) c.4967G>T (p.Gly1656Val) | |
| 3 | g.38551348C>G | CA352142704 | SCN5A | c.5021G>C (p.Gly1674Ala) c.5024G>C (p.Gly1675Ala) c.4970G>C (p.Gly1657Ala) c.4862G>C (p.Gly1621Ala) c.4925G>C (p.Gly1642Ala) c.4895G>C (p.Gly1632Ala) c.4967G>C (p.Gly1656Ala) | |
| 3 | g.38551348C>T | CA352142706 | SCN5A | c.5021G>A (p.Gly1674Asp) c.5024G>A (p.Gly1675Asp) c.4970G>A (p.Gly1657Asp) c.4862G>A (p.Gly1621Asp) c.4925G>A (p.Gly1642Asp) c.4895G>A (p.Gly1632Asp) c.4967G>A (p.Gly1656Asp) | |
| 3 | g.38551349C>A | CA352142708 | SCN5A | c.5020G>T (p.Gly1674Cys) c.5023G>T (p.Gly1675Cys) c.4969G>T (p.Gly1657Cys) c.4861G>T (p.Gly1621Cys) c.4924G>T (p.Gly1642Cys) c.4894G>T (p.Gly1632Cys) c.4966G>T (p.Gly1656Cys) | |
| 3 | g.38551349C>G | CA352142710 | SCN5A | c.5020G>C (p.Gly1674Arg) c.5023G>C (p.Gly1675Arg) c.4969G>C (p.Gly1657Arg) c.4861G>C (p.Gly1621Arg) c.4924G>C (p.Gly1642Arg) c.4894G>C (p.Gly1632Arg) c.4966G>C (p.Gly1656Arg) | |
| 3 | g.38551349C>T | CA352142712 | SCN5A | c.5020G>A (p.Gly1674Ser) c.5023G>A (p.Gly1675Ser) c.4969G>A (p.Gly1657Ser) c.4861G>A (p.Gly1621Ser) c.4924G>A (p.Gly1642Ser) c.4894G>A (p.Gly1632Ser) c.4966G>A (p.Gly1656Ser) |