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This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.38554406C>A | CA352143841 | SCN5A | c.4683G>T (p.Lys1561Asn) c.4686G>T (p.Lys1562Asn) c.4632G>T (p.Lys1544Asn) c.4524G>T (p.Lys1508Asn) n.144G>T c.4557G>T (p.Lys1519Asn) c.4629G>T (p.Lys1543Asn) | |
| 3 | g.38554406C= | CA1358563268 | SCN5A | c.4683G= (p.Lys1561=) c.4686G= (p.Lys1562=) c.4632G= (p.Lys1544=) c.4524G= (p.Lys1508=) n.144G= c.4557G= (p.Lys1519=) c.4629G= (p.Lys1543=) | |
| 3 | g.38554406C>G | CA352143842 | SCN5A | c.4683G>C (p.Lys1561Asn) c.4686G>C (p.Lys1562Asn) c.4632G>C (p.Lys1544Asn) c.4524G>C (p.Lys1508Asn) n.144G>C c.4557G>C (p.Lys1519Asn) c.4629G>C (p.Lys1543Asn) | |
| 3 | g.38554406C>T | CA433134649 | SCN5A | c.4683G>A (p.Lys1561=) c.4686G>A (p.Lys1562=) c.4632G>A (p.Lys1544=) c.4524G>A (p.Lys1508=) n.144G>A c.4557G>A (p.Lys1519=) c.4629G>A (p.Lys1543=) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.38554407T>A | CA352143843 | SCN5A | c.4682A>T (p.Lys1561Met) c.4685A>T (p.Lys1562Met) c.4631A>T (p.Lys1544Met) c.4523A>T (p.Lys1508Met) n.143A>T c.4556A>T (p.Lys1519Met) c.4628A>T (p.Lys1543Met) | |
| 3 | g.38554407T>C | CA352143844 | SCN5A | c.4682A>G (p.Lys1561Arg) c.4685A>G (p.Lys1562Arg) c.4631A>G (p.Lys1544Arg) c.4523A>G (p.Lys1508Arg) n.143A>G c.4556A>G (p.Lys1519Arg) c.4628A>G (p.Lys1543Arg) | |
| 3 | g.38554407T>G | CA352143845 | SCN5A | c.4682A>C (p.Lys1561Thr) c.4685A>C (p.Lys1562Thr) c.4631A>C (p.Lys1544Thr) c.4523A>C (p.Lys1508Thr) n.143A>C c.4556A>C (p.Lys1519Thr) c.4628A>C (p.Lys1543Thr) | |
| 3 | g.38554408T>A | CA352143846 | SCN5A | c.4681A>T (p.Lys1561Ter) c.4684A>T (p.Lys1562Ter) c.4630A>T (p.Lys1544Ter) c.4522A>T (p.Lys1508Ter) n.142A>T c.4555A>T (p.Lys1519Ter) c.4627A>T (p.Lys1543Ter) | dbSNP gnomAD v4 |
| 3 | g.38554408T>C | CA352143847 | SCN5A | c.4681A>G (p.Lys1561Glu) c.4684A>G (p.Lys1562Glu) c.4630A>G (p.Lys1544Glu) c.4522A>G (p.Lys1508Glu) n.142A>G c.4555A>G (p.Lys1519Glu) c.4627A>G (p.Lys1543Glu) | |
| 3 | g.38554408T>G | CA352143848 | SCN5A | c.4681A>C (p.Lys1561Gln) c.4684A>C (p.Lys1562Gln) c.4630A>C (p.Lys1544Gln) c.4522A>C (p.Lys1508Gln) n.142A>C c.4555A>C (p.Lys1519Gln) c.4627A>C (p.Lys1543Gln) | |
| 3 | g.38554408T= | CA1358563272 | SCN5A | c.4681A= (p.Lys1561=) c.4684A= (p.Lys1562=) c.4630A= (p.Lys1544=) c.4522A= (p.Lys1508=) n.142A= c.4555A= (p.Lys1519=) c.4627A= (p.Lys1543=) | |
| 3 | g.38554409G>A | CA433134651 | SCN5A | c.4680C>T (p.Ala1560=) c.4683C>T (p.Ala1561=) c.4629C>T (p.Ala1543=) c.4521C>T (p.Ala1507=) n.141C>T c.4554C>T (p.Ala1518=) c.4626C>T (p.Ala1542=) | ClinVar gnomAD v4 |
| 3 | g.38554409G>C | CA433134652 | SCN5A | c.4680C>G (p.Ala1560=) c.4683C>G (p.Ala1561=) c.4629C>G (p.Ala1543=) c.4521C>G (p.Ala1507=) n.141C>G c.4554C>G (p.Ala1518=) c.4626C>G (p.Ala1542=) | |
| 3 | g.38554409G>T | CA433134653 | SCN5A | c.4680C>A (p.Ala1560=) c.4683C>A (p.Ala1561=) c.4629C>A (p.Ala1543=) c.4521C>A (p.Ala1507=) n.141C>A c.4554C>A (p.Ala1518=) c.4626C>A (p.Ala1542=) | |
| 3 | g.38554410G>A | CA352143849 | SCN5A | c.4679C>T (p.Ala1560Val) c.4682C>T (p.Ala1561Val) c.4628C>T (p.Ala1543Val) c.4520C>T (p.Ala1507Val) n.140C>T c.4553C>T (p.Ala1518Val) c.4625C>T (p.Ala1542Val) | |
| 3 | g.38554410G>C | CA352143850 | SCN5A | c.4679C>G (p.Ala1560Gly) c.4682C>G (p.Ala1561Gly) c.4628C>G (p.Ala1543Gly) c.4520C>G (p.Ala1507Gly) n.140C>G c.4553C>G (p.Ala1518Gly) c.4625C>G (p.Ala1542Gly) | dbSNP |
| 3 | g.38554410G= | CA1358563275 | SCN5A | c.4679C= (p.Ala1560=) c.4682C= (p.Ala1561=) c.4628C= (p.Ala1543=) c.4520C= (p.Ala1507=) n.140C= c.4553C= (p.Ala1518=) c.4625C= (p.Ala1542=) | |
| 3 | g.38554410G>T | CA352143851 | SCN5A | c.4679C>A (p.Ala1560Asp) c.4682C>A (p.Ala1561Asp) c.4628C>A (p.Ala1543Asp) c.4520C>A (p.Ala1507Asp) n.140C>A c.4553C>A (p.Ala1518Asp) c.4625C>A (p.Ala1542Asp) | |
| 3 | g.38554411C>A | CA352143852 | SCN5A | c.4678G>T (p.Ala1560Ser) c.4681G>T (p.Ala1561Ser) c.4627G>T (p.Ala1543Ser) c.4519G>T (p.Ala1507Ser) n.139G>T c.4552G>T (p.Ala1518Ser) c.4624G>T (p.Ala1542Ser) | |
| 3 | g.38554411C>G | CA352143853 | SCN5A | c.4678G>C (p.Ala1560Pro) c.4681G>C (p.Ala1561Pro) c.4627G>C (p.Ala1543Pro) c.4519G>C (p.Ala1507Pro) n.139G>C c.4552G>C (p.Ala1518Pro) c.4624G>C (p.Ala1542Pro) | |
| 3 | g.38554411C>T | CA352143854 | SCN5A | c.4678G>A (p.Ala1560Thr) c.4681G>A (p.Ala1561Thr) c.4627G>A (p.Ala1543Thr) c.4519G>A (p.Ala1507Thr) n.139G>A c.4552G>A (p.Ala1518Thr) c.4624G>A (p.Ala1542Thr) | gnomAD v4 |
| 3 | g.38554412C>A | CA352143855 | SCN5A | c.4677G>T (p.Leu1559Phe) c.4680G>T (p.Leu1560Phe) c.4626G>T (p.Leu1542Phe) c.4518G>T (p.Leu1506Phe) n.138G>T c.4551G>T (p.Leu1517Phe) c.4623G>T (p.Leu1541Phe) | |
| 3 | g.38554412C= | CA1358563285 | SCN5A | c.4677G= (p.Leu1559=) c.4680G= (p.Leu1560=) c.4626G= (p.Leu1542=) c.4518G= (p.Leu1506=) n.138G= c.4551G= (p.Leu1517=) c.4623G= (p.Leu1541=) | |
| 3 | g.38554412C>G | CA018476 | SCN5A | c.4677G>C (p.Leu1559Phe) c.4680G>C (p.Leu1560Phe) c.4626G>C (p.Leu1542Phe) c.4518G>C (p.Leu1506Phe) n.138G>C c.4551G>C (p.Leu1517Phe) c.4623G>C (p.Leu1541Phe) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38554412C>T | CA433134654 | SCN5A | c.4677G>A (p.Leu1559=) c.4680G>A (p.Leu1560=) c.4626G>A (p.Leu1542=) c.4518G>A (p.Leu1506=) n.138G>A c.4551G>A (p.Leu1517=) c.4623G>A (p.Leu1541=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38554413A= | CA1358563295 | SCN5A | c.4676T= (p.Leu1559=) c.4679T= (p.Leu1560=) c.4625T= (p.Leu1542=) c.4517T= (p.Leu1506=) n.137T= c.4550T= (p.Leu1517=) c.4622T= (p.Leu1541=) | |
| 3 | g.38554413A>C | CA352143856 | SCN5A | c.4676T>G (p.Leu1559Trp) c.4679T>G (p.Leu1560Trp) c.4625T>G (p.Leu1542Trp) c.4517T>G (p.Leu1506Trp) n.137T>G c.4550T>G (p.Leu1517Trp) c.4622T>G (p.Leu1541Trp) | |
| 3 | g.38554413A>G | CA352143857 | SCN5A | c.4676T>C (p.Leu1559Ser) c.4679T>C (p.Leu1560Ser) c.4625T>C (p.Leu1542Ser) c.4517T>C (p.Leu1506Ser) n.137T>C c.4550T>C (p.Leu1517Ser) c.4622T>C (p.Leu1541Ser) | |
| 3 | g.38554413A>T | CA352143858 | SCN5A | c.4676T>A (p.Leu1559Ter) c.4679T>A (p.Leu1560Ter) c.4625T>A (p.Leu1542Ter) c.4517T>A (p.Leu1506Ter) n.137T>A c.4550T>A (p.Leu1517Ter) c.4622T>A (p.Leu1541Ter) | dbSNP |
| 3 | g.38554414A= | CA1358563299 | SCN5A | c.4675T= (p.Leu1559=) c.4678T= (p.Leu1560=) c.4624T= (p.Leu1542=) c.4516T= (p.Leu1506=) n.136T= c.4549T= (p.Leu1517=) c.4621T= (p.Leu1541=) | |
| 3 | g.38554414A>C | CA352143859 | SCN5A | c.4675T>G (p.Leu1559Val) c.4678T>G (p.Leu1560Val) c.4624T>G (p.Leu1542Val) c.4516T>G (p.Leu1506Val) n.136T>G c.4549T>G (p.Leu1517Val) c.4621T>G (p.Leu1541Val) | |
| 3 | g.38554414A>G | CA433134659 | SCN5A | c.4675T>C (p.Leu1559=) c.4678T>C (p.Leu1560=) c.4624T>C (p.Leu1542=) c.4516T>C (p.Leu1506=) n.136T>C c.4549T>C (p.Leu1517=) c.4621T>C (p.Leu1541=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38554414A>T | CA352143860 | SCN5A | c.4675T>A (p.Leu1559Met) c.4678T>A (p.Leu1560Met) c.4624T>A (p.Leu1542Met) c.4516T>A (p.Leu1506Met) n.136T>A c.4549T>A (p.Leu1517Met) c.4621T>A (p.Leu1541Met) | |
| 3 | g.38554415G>A | CA433134661 | SCN5A | c.4674C>T (p.Ile1558=) c.4677C>T (p.Ile1559=) c.4623C>T (p.Ile1541=) c.4515C>T (p.Ile1505=) n.135C>T c.4548C>T (p.Ile1516=) c.4620C>T (p.Ile1540=) | |
| 3 | g.38554415G>C | CA352143861 | SCN5A | c.4674C>G (p.Ile1558Met) c.4677C>G (p.Ile1559Met) c.4623C>G (p.Ile1541Met) c.4515C>G (p.Ile1505Met) n.135C>G c.4548C>G (p.Ile1516Met) c.4620C>G (p.Ile1540Met) | |
| 3 | g.38554415G>T | CA433134663 | SCN5A | c.4674C>A (p.Ile1558=) c.4677C>A (p.Ile1559=) c.4623C>A (p.Ile1541=) c.4515C>A (p.Ile1505=) n.135C>A c.4548C>A (p.Ile1516=) c.4620C>A (p.Ile1540=) | gnomAD v4 |
| 3 | g.38554416A= | CA1358563301 | SCN5A | c.4673T= (p.Ile1558=) c.4676T= (p.Ile1559=) c.4622T= (p.Ile1541=) c.4514T= (p.Ile1505=) n.134T= c.4547T= (p.Ile1516=) c.4619T= (p.Ile1540=) | |
| 3 | g.38554416A>C | CA352143862 | SCN5A | c.4673T>G (p.Ile1558Ser) c.4676T>G (p.Ile1559Ser) c.4622T>G (p.Ile1541Ser) c.4514T>G (p.Ile1505Ser) n.134T>G c.4547T>G (p.Ile1516Ser) c.4619T>G (p.Ile1540Ser) | |
| 3 | g.38554416A>G | CA352143863 | SCN5A | c.4673T>C (p.Ile1558Thr) c.4676T>C (p.Ile1559Thr) c.4622T>C (p.Ile1541Thr) c.4514T>C (p.Ile1505Thr) n.134T>C c.4547T>C (p.Ile1516Thr) c.4619T>C (p.Ile1540Thr) | dbSNP gnomAD v4 |
| 3 | g.38554416A>T | CA352143864 | SCN5A | c.4673T>A (p.Ile1558Asn) c.4676T>A (p.Ile1559Asn) c.4622T>A (p.Ile1541Asn) c.4514T>A (p.Ile1505Asn) n.134T>A c.4547T>A (p.Ile1516Asn) c.4619T>A (p.Ile1540Asn) | |
| 3 | g.38554417T>A | CA352143865 | SCN5A | c.4672A>T (p.Ile1558Phe) c.4675A>T (p.Ile1559Phe) c.4621A>T (p.Ile1541Phe) c.4513A>T (p.Ile1505Phe) n.133A>T c.4546A>T (p.Ile1516Phe) c.4618A>T (p.Ile1540Phe) | |
| 3 | g.38554417T>C | CA063509 | SCN5A | c.4672A>G (p.Ile1558Val) c.4675A>G (p.Ile1559Val) c.4621A>G (p.Ile1541Val) c.4513A>G (p.Ile1505Val) n.133A>G c.4546A>G (p.Ile1516Val) c.4618A>G (p.Ile1540Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38554417T>G | CA352143866 | SCN5A | c.4672A>C (p.Ile1558Leu) c.4675A>C (p.Ile1559Leu) c.4621A>C (p.Ile1541Leu) c.4513A>C (p.Ile1505Leu) n.133A>C c.4546A>C (p.Ile1516Leu) c.4618A>C (p.Ile1540Leu) | |
| 3 | g.38554417T= | CA1358563304 | SCN5A | c.4672A= (p.Ile1558=) c.4675A= (p.Ile1559=) c.4621A= (p.Ile1541=) c.4513A= (p.Ile1505=) n.133A= c.4546A= (p.Ile1516=) c.4618A= (p.Ile1540=) | |
| 3 | g.38554418del | CA433134671 | SCN5A | c.4671del (p.Asn1557LysfsTer?) c.4674del (p.Asn1558LysfsTer?) c.4620del (p.Asn1540LysfsTer?) c.4512del (p.Asn1504LysfsTer?) n.132del c.4545del (p.Asn1515LysfsTer?) c.4617del (p.Asn1539LysfsTer?) | COSMIC |
| 3 | g.38554418G>A | CA433134669 | SCN5A | c.4671C>T (p.Asn1557=) c.4674C>T (p.Asn1558=) c.4620C>T (p.Asn1540=) c.4512C>T (p.Asn1504=) n.132C>T c.4545C>T (p.Asn1515=) c.4617C>T (p.Asn1539=) | dbSNP |
| 3 | g.38554418G>C | CA352143867 | SCN5A | c.4671C>G (p.Asn1557Lys) c.4674C>G (p.Asn1558Lys) c.4620C>G (p.Asn1540Lys) c.4512C>G (p.Asn1504Lys) n.132C>G c.4545C>G (p.Asn1515Lys) c.4617C>G (p.Asn1539Lys) | |
| 3 | g.38554418G= | CA1358563312 | SCN5A | c.4671C= (p.Asn1557=) c.4674C= (p.Asn1558=) c.4620C= (p.Asn1540=) c.4512C= (p.Asn1504=) n.132C= c.4545C= (p.Asn1515=) c.4617C= (p.Asn1539=) | |
| 3 | g.38554418G>T | CA352143868 | SCN5A | c.4671C>A (p.Asn1557Lys) c.4674C>A (p.Asn1558Lys) c.4620C>A (p.Asn1540Lys) c.4512C>A (p.Asn1504Lys) n.132C>A c.4545C>A (p.Asn1515Lys) c.4617C>A (p.Asn1539Lys) | |
| 3 | g.38554418dup | CA1358563311 | SCN5A | c.4671dup (p.Ile1558HisfsTer?) c.4674dup (p.Ile1559HisfsTer?) c.4620dup (p.Ile1541HisfsTer?) c.4512dup (p.Ile1505HisfsTer?) n.132dup c.4545dup (p.Ile1516HisfsTer?) c.4617dup (p.Ile1540HisfsTer?) | dbSNP |
| 3 | g.38554419T>A | CA352143869 | SCN5A | c.4670A>T (p.Asn1557Ile) c.4673A>T (p.Asn1558Ile) c.4619A>T (p.Asn1540Ile) c.4511A>T (p.Asn1504Ile) n.131A>T c.4544A>T (p.Asn1515Ile) c.4616A>T (p.Asn1539Ile) | |
| 3 | g.38554419T>C | CA352143870 | SCN5A | c.4670A>G (p.Asn1557Ser) c.4673A>G (p.Asn1558Ser) c.4619A>G (p.Asn1540Ser) c.4511A>G (p.Asn1504Ser) n.131A>G c.4544A>G (p.Asn1515Ser) c.4616A>G (p.Asn1539Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38554419T>G | CA352143871 | SCN5A | c.4670A>C (p.Asn1557Thr) c.4673A>C (p.Asn1558Thr) c.4619A>C (p.Asn1540Thr) c.4511A>C (p.Asn1504Thr) n.131A>C c.4544A>C (p.Asn1515Thr) c.4616A>C (p.Asn1539Thr) | |
| 3 | g.38554419T= | CA1358563318 | SCN5A | c.4670A= (p.Asn1557=) c.4673A= (p.Asn1558=) c.4619A= (p.Asn1540=) c.4511A= (p.Asn1504=) n.131A= c.4544A= (p.Asn1515=) c.4616A= (p.Asn1539=) | |
| 3 | g.38554421_38554425dup | CA2577553273 | SCN5A | c.4666_4670dup (p.Asn1557LysfsTer?) c.4669_4673dup (p.Asn1558LysfsTer?) c.4615_4619dup (p.Asn1540LysfsTer?) c.4507_4511dup (p.Asn1504LysfsTer?) n.127_131dup c.4540_4544dup (p.Asn1515LysfsTer?) c.4612_4616dup (p.Asn1539LysfsTer?) | |
| 3 | g.38554420T>A | CA352143872 | SCN5A | c.4669A>T (p.Asn1557Tyr) c.4672A>T (p.Asn1558Tyr) c.4618A>T (p.Asn1540Tyr) c.4510A>T (p.Asn1504Tyr) n.130A>T c.4543A>T (p.Asn1515Tyr) c.4615A>T (p.Asn1539Tyr) | |
| 3 | g.38554420T>C | CA352143873 | SCN5A | c.4669A>G (p.Asn1557Asp) c.4672A>G (p.Asn1558Asp) c.4618A>G (p.Asn1540Asp) c.4510A>G (p.Asn1504Asp) n.130A>G c.4543A>G (p.Asn1515Asp) c.4615A>G (p.Asn1539Asp) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38554420T>G | CA352143874 | SCN5A | c.4669A>C (p.Asn1557His) c.4672A>C (p.Asn1558His) c.4618A>C (p.Asn1540His) c.4510A>C (p.Asn1504His) n.130A>C c.4543A>C (p.Asn1515His) c.4615A>C (p.Asn1539His) | |
| 3 | g.38554420T= | CA1358563324 | SCN5A | c.4669A= (p.Asn1557=) c.4672A= (p.Asn1558=) c.4618A= (p.Asn1540=) c.4510A= (p.Asn1504=) n.130A= c.4543A= (p.Asn1515=) c.4615A= (p.Asn1539=) | |
| 3 | g.38554421G>A | CA10618698 | SCN5A | c.4668C>T (p.Ile1556=) c.4671C>T (p.Ile1557=) c.4617C>T (p.Ile1539=) c.4509C>T (p.Ile1503=) n.129C>T c.4542C>T (p.Ile1514=) c.4614C>T (p.Ile1538=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38554421G>C | CA352143875 | SCN5A | c.4668C>G (p.Ile1556Met) c.4671C>G (p.Ile1557Met) c.4617C>G (p.Ile1539Met) c.4509C>G (p.Ile1503Met) n.129C>G c.4542C>G (p.Ile1514Met) c.4614C>G (p.Ile1538Met) | gnomAD v4 |
| 3 | g.38554421G= | CA1358563327 | SCN5A | c.4668C= (p.Ile1556=) c.4671C= (p.Ile1557=) c.4617C= (p.Ile1539=) c.4509C= (p.Ile1503=) n.129C= c.4542C= (p.Ile1514=) c.4614C= (p.Ile1538=) | |
| 3 | g.38554421G>T | CA433134677 | SCN5A | c.4668C>A (p.Ile1556=) c.4671C>A (p.Ile1557=) c.4617C>A (p.Ile1539=) c.4509C>A (p.Ile1503=) n.129C>A c.4542C>A (p.Ile1514=) c.4614C>A (p.Ile1538=) | |
| 3 | g.38554422A>C | CA352143876 | SCN5A | c.4667T>G (p.Ile1556Ser) c.4670T>G (p.Ile1557Ser) c.4616T>G (p.Ile1539Ser) c.4508T>G (p.Ile1503Ser) n.128T>G c.4541T>G (p.Ile1514Ser) c.4613T>G (p.Ile1538Ser) | |
| 3 | g.38554422A>G | CA352143877 | SCN5A | c.4667T>C (p.Ile1556Thr) c.4670T>C (p.Ile1557Thr) c.4616T>C (p.Ile1539Thr) c.4508T>C (p.Ile1503Thr) n.128T>C c.4541T>C (p.Ile1514Thr) c.4613T>C (p.Ile1538Thr) | |
| 3 | g.38554422A>T | CA352143878 | SCN5A | c.4667T>A (p.Ile1556Asn) c.4670T>A (p.Ile1557Asn) c.4616T>A (p.Ile1539Asn) c.4508T>A (p.Ile1503Asn) n.128T>A c.4541T>A (p.Ile1514Asn) c.4613T>A (p.Ile1538Asn) | |
| 3 | g.38554423T>A | CA352143879 | SCN5A | c.4666A>T (p.Ile1556Phe) c.4669A>T (p.Ile1557Phe) c.4615A>T (p.Ile1539Phe) c.4507A>T (p.Ile1503Phe) n.127A>T c.4540A>T (p.Ile1514Phe) c.4612A>T (p.Ile1538Phe) | |
| 3 | g.38554423T>C | CA063506 | SCN5A | c.4666A>G (p.Ile1556Val) c.4669A>G (p.Ile1557Val) c.4615A>G (p.Ile1539Val) c.4507A>G (p.Ile1503Val) n.127A>G c.4540A>G (p.Ile1514Val) c.4612A>G (p.Ile1538Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38554423T>G | CA352143880 | SCN5A | c.4666A>C (p.Ile1556Leu) c.4669A>C (p.Ile1557Leu) c.4615A>C (p.Ile1539Leu) c.4507A>C (p.Ile1503Leu) n.127A>C c.4540A>C (p.Ile1514Leu) c.4612A>C (p.Ile1538Leu) | |
| 3 | g.38554423T= | CA1358563330 | SCN5A | c.4666A= (p.Ile1556=) c.4669A= (p.Ile1557=) c.4615A= (p.Ile1539=) c.4507A= (p.Ile1503=) n.127A= c.4540A= (p.Ile1514=) c.4612A= (p.Ile1538=) | |
| 3 | g.38554426dup | CA2665110380 | SCN5A | c.4666dup (p.Ile1556AsnfsTer?) c.4669dup (p.Ile1557AsnfsTer?) c.4615dup (p.Ile1539AsnfsTer?) c.4507dup (p.Ile1503AsnfsTer?) n.127dup c.4540dup (p.Ile1514AsnfsTer?) c.4612dup (p.Ile1538AsnfsTer?) | gnomAD v4 |
| 3 | g.38554424T>A | CA352143881 | SCN5A | c.4665A>T (p.Lys1555Asn) c.4668A>T (p.Lys1556Asn) c.4614A>T (p.Lys1538Asn) c.4506A>T (p.Lys1502Asn) n.126A>T c.4539A>T (p.Lys1513Asn) c.4611A>T (p.Lys1537Asn) | gnomAD v4 |
| 3 | g.38554424T>C | CA433134684 | SCN5A | c.4665A>G (p.Lys1555=) c.4668A>G (p.Lys1556=) c.4614A>G (p.Lys1538=) c.4506A>G (p.Lys1502=) n.126A>G c.4539A>G (p.Lys1513=) c.4611A>G (p.Lys1537=) | |
| 3 | g.38554424T>G | CA352143882 | SCN5A | c.4665A>C (p.Lys1555Asn) c.4668A>C (p.Lys1556Asn) c.4614A>C (p.Lys1538Asn) c.4506A>C (p.Lys1502Asn) n.126A>C c.4539A>C (p.Lys1513Asn) c.4611A>C (p.Lys1537Asn) | |
| 3 | g.38554425T>A | CA352143883 | SCN5A | c.4664A>T (p.Lys1555Ile) c.4667A>T (p.Lys1556Ile) c.4613A>T (p.Lys1538Ile) c.4505A>T (p.Lys1502Ile) n.125A>T c.4538A>T (p.Lys1513Ile) c.4610A>T (p.Lys1537Ile) | |
| 3 | g.38554425T>C | CA352143884 | SCN5A | c.4664A>G (p.Lys1555Arg) c.4667A>G (p.Lys1556Arg) c.4613A>G (p.Lys1538Arg) c.4505A>G (p.Lys1502Arg) n.125A>G c.4538A>G (p.Lys1513Arg) c.4610A>G (p.Lys1537Arg) | |
| 3 | g.38554425T>G | CA352143885 | SCN5A | c.4664A>C (p.Lys1555Thr) c.4667A>C (p.Lys1556Thr) c.4613A>C (p.Lys1538Thr) c.4505A>C (p.Lys1502Thr) n.125A>C c.4538A>C (p.Lys1513Thr) c.4610A>C (p.Lys1537Thr) | |
| 3 | g.38554426T>A | CA352143886 | SCN5A | c.4663A>T (p.Lys1555Ter) c.4666A>T (p.Lys1556Ter) c.4612A>T (p.Lys1538Ter) c.4504A>T (p.Lys1502Ter) n.124A>T c.4537A>T (p.Lys1513Ter) c.4609A>T (p.Lys1537Ter) | dbSNP |
| 3 | g.38554426T>C | CA352143887 | SCN5A | c.4663A>G (p.Lys1555Glu) c.4666A>G (p.Lys1556Glu) c.4612A>G (p.Lys1538Glu) c.4504A>G (p.Lys1502Glu) n.124A>G c.4537A>G (p.Lys1513Glu) c.4609A>G (p.Lys1537Glu) | |
| 3 | g.38554426T>G | CA352143888 | SCN5A | c.4663A>C (p.Lys1555Gln) c.4666A>C (p.Lys1556Gln) c.4612A>C (p.Lys1538Gln) c.4504A>C (p.Lys1502Gln) n.124A>C c.4537A>C (p.Lys1513Gln) c.4609A>C (p.Lys1537Gln) | |
| 3 | g.38554426T= | CA1358563334 | SCN5A | c.4663A= (p.Lys1555=) c.4666A= (p.Lys1556=) c.4612A= (p.Lys1538=) c.4504A= (p.Lys1502=) n.124A= c.4537A= (p.Lys1513=) c.4609A= (p.Lys1537=) | |
| 3 | g.38554427C>A | CA352143889 | SCN5A | c.4662G>T (p.Glu1554Asp) c.4665G>T (p.Glu1555Asp) c.4611G>T (p.Glu1537Asp) c.4503G>T (p.Glu1501Asp) n.123G>T c.4536G>T (p.Glu1512Asp) c.4608G>T (p.Glu1536Asp) | |
| 3 | g.38554427C= | CA1358563337 | SCN5A | c.4662G= (p.Glu1554=) c.4665G= (p.Glu1555=) c.4611G= (p.Glu1537=) c.4503G= (p.Glu1501=) n.123G= c.4536G= (p.Glu1512=) c.4608G= (p.Glu1536=) | |
| 3 | g.38554427C>G | CA352143890 | SCN5A | c.4662G>C (p.Glu1554Asp) c.4665G>C (p.Glu1555Asp) c.4611G>C (p.Glu1537Asp) c.4503G>C (p.Glu1501Asp) n.123G>C c.4536G>C (p.Glu1512Asp) c.4608G>C (p.Glu1536Asp) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38554427C>T | CA433134691 | SCN5A | c.4662G>A (p.Glu1554=) c.4665G>A (p.Glu1555=) c.4611G>A (p.Glu1537=) c.4503G>A (p.Glu1501=) n.123G>A c.4536G>A (p.Glu1512=) c.4608G>A (p.Glu1536=) | |
| 3 | g.38554428T>A | CA352143891 | SCN5A | c.4661A>T (p.Glu1554Val) c.4664A>T (p.Glu1555Val) c.4610A>T (p.Glu1537Val) c.4502A>T (p.Glu1501Val) n.122A>T c.4535A>T (p.Glu1512Val) c.4607A>T (p.Glu1536Val) | |
| 3 | g.38554428T>C | CA352143892 | SCN5A | c.4661A>G (p.Glu1554Gly) c.4664A>G (p.Glu1555Gly) c.4610A>G (p.Glu1537Gly) c.4502A>G (p.Glu1501Gly) n.122A>G c.4535A>G (p.Glu1512Gly) c.4607A>G (p.Glu1536Gly) | |
| 3 | g.38554428T>G | CA352143893 | SCN5A | c.4661A>C (p.Glu1554Ala) c.4664A>C (p.Glu1555Ala) c.4610A>C (p.Glu1537Ala) c.4502A>C (p.Glu1501Ala) n.122A>C c.4535A>C (p.Glu1512Ala) c.4607A>C (p.Glu1536Ala) | |
| 3 | g.38554429C>A | CA352143895 | SCN5A | c.4660G>T (p.Glu1554Ter) c.4663G>T (p.Glu1555Ter) c.4609G>T (p.Glu1537Ter) c.4501G>T (p.Glu1501Ter) n.121G>T c.4534G>T (p.Glu1512Ter) c.4606G>T (p.Glu1536Ter) | dbSNP |
| 3 | g.38554429C= | CA1358563341 | SCN5A | c.4660G= (p.Glu1554=) c.4663G= (p.Glu1555=) c.4609G= (p.Glu1537=) c.4501G= (p.Glu1501=) n.121G= c.4534G= (p.Glu1512=) c.4606G= (p.Glu1536=) | |
| 3 | g.38554429C>G | CA352143894 | SCN5A | c.4660G>C (p.Glu1554Gln) c.4663G>C (p.Glu1555Gln) c.4609G>C (p.Glu1537Gln) c.4501G>C (p.Glu1501Gln) n.121G>C c.4534G>C (p.Glu1512Gln) c.4606G>C (p.Glu1536Gln) | |
| 3 | g.38554429C>T | CA063500 | SCN5A | c.4660G>A (p.Glu1554Lys) c.4663G>A (p.Glu1555Lys) c.4609G>A (p.Glu1537Lys) c.4501G>A (p.Glu1501Lys) n.121G>A c.4534G>A (p.Glu1512Lys) c.4606G>A (p.Glu1536Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38554430del | CA2665110384 | SCN5A | c.4659del (p.Glu1554ArgfsTer?) c.4662del (p.Glu1555ArgfsTer?) c.4608del (p.Glu1537ArgfsTer?) c.4500del (p.Glu1501ArgfsTer?) n.120del c.4533del (p.Glu1512ArgfsTer?) c.4605del (p.Glu1536ArgfsTer?) | gnomAD v4 |
| 3 | g.38554430A= | CA1358563345 | SCN5A | c.4659T= (p.Pro1553=) c.4662T= (p.Pro1554=) c.4608T= (p.Pro1536=) c.4500T= (p.Pro1500=) n.120T= c.4533T= (p.Pro1511=) c.4605T= (p.Pro1535=) | |
| 3 | g.38554430A>C | CA063491 | SCN5A | c.4659T>G (p.Pro1553=) c.4662T>G (p.Pro1554=) c.4608T>G (p.Pro1536=) c.4500T>G (p.Pro1500=) n.120T>G c.4533T>G (p.Pro1511=) c.4605T>G (p.Pro1535=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38554430A>G | CA433134699 | SCN5A | c.4659T>C (p.Pro1553=) c.4662T>C (p.Pro1554=) c.4608T>C (p.Pro1536=) c.4500T>C (p.Pro1500=) n.120T>C c.4533T>C (p.Pro1511=) c.4605T>C (p.Pro1535=) | dbSNP |
| 3 | g.38554430A>T | CA433134700 | SCN5A | c.4659T>A (p.Pro1553=) c.4662T>A (p.Pro1554=) c.4608T>A (p.Pro1536=) c.4500T>A (p.Pro1500=) n.120T>A c.4533T>A (p.Pro1511=) c.4605T>A (p.Pro1535=) | |
| 3 | g.38554431G>A | CA352143898 | SCN5A | c.4658C>T (p.Pro1553Leu) c.4661C>T (p.Pro1554Leu) c.4607C>T (p.Pro1536Leu) c.4499C>T (p.Pro1500Leu) n.119C>T c.4532C>T (p.Pro1511Leu) c.4604C>T (p.Pro1535Leu) | gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.38554431G>C | CA352143896 | SCN5A | c.4658C>G (p.Pro1553Arg) c.4661C>G (p.Pro1554Arg) c.4607C>G (p.Pro1536Arg) c.4499C>G (p.Pro1500Arg) n.119C>G c.4532C>G (p.Pro1511Arg) c.4604C>G (p.Pro1535Arg) | |
| 3 | g.38554431G>T | CA352143897 | SCN5A | c.4658C>A (p.Pro1553His) c.4661C>A (p.Pro1554His) c.4607C>A (p.Pro1536His) c.4499C>A (p.Pro1500His) n.119C>A c.4532C>A (p.Pro1511His) c.4604C>A (p.Pro1535His) | |
| 3 | g.38554432G>A | CA352143899 | SCN5A | c.4657C>T (p.Pro1553Ser) c.4660C>T (p.Pro1554Ser) c.4606C>T (p.Pro1536Ser) c.4498C>T (p.Pro1500Ser) n.118C>T c.4531C>T (p.Pro1511Ser) c.4603C>T (p.Pro1535Ser) | |
| 3 | g.38554432G>C | CA352143900 | SCN5A | c.4657C>G (p.Pro1553Ala) c.4660C>G (p.Pro1554Ala) c.4606C>G (p.Pro1536Ala) c.4498C>G (p.Pro1500Ala) n.118C>G c.4531C>G (p.Pro1511Ala) c.4603C>G (p.Pro1535Ala) | |
| 3 | g.38554432G>T | CA352143901 | SCN5A | c.4657C>A (p.Pro1553Thr) c.4660C>A (p.Pro1554Thr) c.4606C>A (p.Pro1536Thr) c.4498C>A (p.Pro1500Thr) n.118C>A c.4531C>A (p.Pro1511Thr) c.4603C>A (p.Pro1535Thr) | |
| 3 | g.38554433A>C | CA352143902 | SCN5A | c.4656T>G (p.Ser1552Arg) c.4659T>G (p.Ser1553Arg) c.4605T>G (p.Ser1535Arg) c.4497T>G (p.Ser1499Arg) n.117T>G c.4530T>G (p.Ser1510Arg) c.4602T>G (p.Ser1534Arg) | |
| 3 | g.38554433A>G | CA433134706 | SCN5A | c.4656T>C (p.Ser1552=) c.4659T>C (p.Ser1553=) c.4605T>C (p.Ser1535=) c.4497T>C (p.Ser1499=) n.117T>C c.4530T>C (p.Ser1510=) c.4602T>C (p.Ser1534=) | |
| 3 | g.38554433A>T | CA352143903 | SCN5A | c.4656T>A (p.Ser1552Arg) c.4659T>A (p.Ser1553Arg) c.4605T>A (p.Ser1535Arg) c.4497T>A (p.Ser1499Arg) n.117T>A c.4530T>A (p.Ser1510Arg) c.4602T>A (p.Ser1534Arg) | ClinVar |
| 3 | g.38554434C>A | CA352143904 | SCN5A | c.4655G>T (p.Ser1552Ile) c.4658G>T (p.Ser1553Ile) c.4604G>T (p.Ser1535Ile) c.4496G>T (p.Ser1499Ile) n.116G>T c.4529G>T (p.Ser1510Ile) c.4601G>T (p.Ser1534Ile) | |
| 3 | g.38554434C= | CA1358563351 | SCN5A | c.4655G= (p.Ser1552=) c.4658G= (p.Ser1553=) c.4604G= (p.Ser1535=) c.4496G= (p.Ser1499=) n.116G= c.4529G= (p.Ser1510=) c.4601G= (p.Ser1534=) | |
| 3 | g.38554434C>G | CA352143905 | SCN5A | c.4655G>C (p.Ser1552Thr) c.4658G>C (p.Ser1553Thr) c.4604G>C (p.Ser1535Thr) c.4496G>C (p.Ser1499Thr) n.116G>C c.4529G>C (p.Ser1510Thr) c.4601G>C (p.Ser1534Thr) | dbSNP COSMIC COSMIC COSMIC |
| 3 | g.38554434C>T | CA352143906 | SCN5A | c.4655G>A (p.Ser1552Asn) c.4658G>A (p.Ser1553Asn) c.4604G>A (p.Ser1535Asn) c.4496G>A (p.Ser1499Asn) n.116G>A c.4529G>A (p.Ser1510Asn) c.4601G>A (p.Ser1534Asn) | |
| 3 | g.38554434_38554435delinsCT | CA1358563350 | SCN5A | c.4654_4655delinsAG (p.Ser1552=) c.4657_4658delinsAG (p.Ser1553=) c.4603_4604delinsAG (p.Ser1535=) c.4495_4496delinsAG (p.Ser1499=) n.115_116delinsAG c.4528_4529delinsAG (p.Ser1510=) c.4600_4601delinsAG (p.Ser1534=) | |
| 3 | g.38554435T>A | CA352143907 | SCN5A | c.4654A>T (p.Ser1552Cys) c.4657A>T (p.Ser1553Cys) c.4603A>T (p.Ser1535Cys) c.4495A>T (p.Ser1499Cys) n.115A>T c.4528A>T (p.Ser1510Cys) c.4600A>T (p.Ser1534Cys) | |
| 3 | g.38554435T>C | CA352143908 | SCN5A | c.4654A>G (p.Ser1552Gly) c.4657A>G (p.Ser1553Gly) c.4603A>G (p.Ser1535Gly) c.4495A>G (p.Ser1499Gly) n.115A>G c.4528A>G (p.Ser1510Gly) c.4600A>G (p.Ser1534Gly) | |
| 3 | g.38554435T>G | CA018469 | SCN5A | c.4654A>C (p.Ser1552Arg) c.4657A>C (p.Ser1553Arg) c.4603A>C (p.Ser1535Arg) c.4495A>C (p.Ser1499Arg) n.115A>C c.4528A>C (p.Ser1510Arg) c.4600A>C (p.Ser1534Arg) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38554435T= | CA1358563362 | SCN5A | c.4654A= (p.Ser1552=) c.4657A= (p.Ser1553=) c.4603A= (p.Ser1535=) c.4495A= (p.Ser1499=) n.115A= c.4528A= (p.Ser1510=) c.4600A= (p.Ser1534=) | |
| 3 | g.38554437dup | CA2838253292 | SCN5A | c.4654dup (p.Ser1552LysfsTer3) c.4657dup (p.Ser1553LysfsTer3) c.4603dup (p.Ser1535LysfsTer3) c.4495dup (p.Ser1499LysfsTer3) n.115dup c.4528dup (p.Ser1510LysfsTer3) c.4600dup (p.Ser1534LysfsTer3) | |
| 3 | g.38554437del | CA891843410 | SCN5A | c.4654del (p.Ser1552ValfsTer?) c.4657del (p.Ser1553ValfsTer?) c.4603del (p.Ser1535ValfsTer?) c.4495del (p.Ser1499ValfsTer?) n.115del c.4528del (p.Ser1510ValfsTer?) c.4600del (p.Ser1534ValfsTer?) | ClinVar dbSNP |
| 3 | g.38554436T>A | CA352143909 | SCN5A | c.4653A>T (p.Gln1551His) c.4656A>T (p.Gln1552His) c.4602A>T (p.Gln1534His) c.4494A>T (p.Gln1498His) n.114A>T c.4527A>T (p.Gln1509His) c.4599A>T (p.Gln1533His) | |
| 3 | g.38554436T>C | CA433134713 | SCN5A | c.4653A>G (p.Gln1551=) c.4656A>G (p.Gln1552=) c.4602A>G (p.Gln1534=) c.4494A>G (p.Gln1498=) n.114A>G c.4527A>G (p.Gln1509=) c.4599A>G (p.Gln1533=) | |
| 3 | g.38554436T>G | CA352143910 | SCN5A | c.4653A>C (p.Gln1551His) c.4656A>C (p.Gln1552His) c.4602A>C (p.Gln1534His) c.4494A>C (p.Gln1498His) n.114A>C c.4527A>C (p.Gln1509His) c.4599A>C (p.Gln1533His) | |
| 3 | g.38554437T>A | CA352143911 | SCN5A | c.4652A>T (p.Gln1551Leu) c.4655A>T (p.Gln1552Leu) c.4601A>T (p.Gln1534Leu) c.4493A>T (p.Gln1498Leu) n.113A>T c.4526A>T (p.Gln1509Leu) c.4598A>T (p.Gln1533Leu) | dbSNP gnomAD v2 |
| 3 | g.38554437T>C | CA352143912 | SCN5A | c.4652A>G (p.Gln1551Arg) c.4655A>G (p.Gln1552Arg) c.4601A>G (p.Gln1534Arg) c.4493A>G (p.Gln1498Arg) n.113A>G c.4526A>G (p.Gln1509Arg) c.4598A>G (p.Gln1533Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38554437T>G | CA352143913 | SCN5A | c.4652A>C (p.Gln1551Pro) c.4655A>C (p.Gln1552Pro) c.4601A>C (p.Gln1534Pro) c.4493A>C (p.Gln1498Pro) n.113A>C c.4526A>C (p.Gln1509Pro) c.4598A>C (p.Gln1533Pro) | |
| 3 | g.38554437T= | CA1358563365 | SCN5A | c.4652A= (p.Gln1551=) c.4655A= (p.Gln1552=) c.4601A= (p.Gln1534=) c.4493A= (p.Gln1498=) n.113A= c.4526A= (p.Gln1509=) c.4598A= (p.Gln1533=) | |
| 3 | g.38554438G>A | CA352143914 | SCN5A | c.4651C>T (p.Gln1551Ter) c.4654C>T (p.Gln1552Ter) c.4600C>T (p.Gln1534Ter) c.4492C>T (p.Gln1498Ter) n.112C>T c.4525C>T (p.Gln1509Ter) c.4597C>T (p.Gln1533Ter) | |
| 3 | g.38554438G>C | CA352143915 | SCN5A | c.4651C>G (p.Gln1551Glu) c.4654C>G (p.Gln1552Glu) c.4600C>G (p.Gln1534Glu) c.4492C>G (p.Gln1498Glu) n.112C>G c.4525C>G (p.Gln1509Glu) c.4597C>G (p.Gln1533Glu) | |
| 3 | g.38554438G>T | CA352143916 | SCN5A | c.4651C>A (p.Gln1551Lys) c.4654C>A (p.Gln1552Lys) c.4600C>A (p.Gln1534Lys) c.4492C>A (p.Gln1498Lys) n.112C>A c.4525C>A (p.Gln1509Lys) c.4597C>A (p.Gln1533Lys) | |
| 3 | g.38554439G>A | CA433134718 | SCN5A | c.4650C>T (p.Asp1550=) c.4653C>T (p.Asp1551=) c.4599C>T (p.Asp1533=) c.4491C>T (p.Asp1497=) n.111C>T c.4524C>T (p.Asp1508=) c.4596C>T (p.Asp1532=) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38554439G>C | CA352143917 | SCN5A | c.4650C>G (p.Asp1550Glu) c.4653C>G (p.Asp1551Glu) c.4599C>G (p.Asp1533Glu) c.4491C>G (p.Asp1497Glu) n.111C>G c.4524C>G (p.Asp1508Glu) c.4596C>G (p.Asp1532Glu) | |
| 3 | g.38554439G= | CA1358563376 | SCN5A | c.4650C= (p.Asp1550=) c.4653C= (p.Asp1551=) c.4599C= (p.Asp1533=) c.4491C= (p.Asp1497=) n.111C= c.4524C= (p.Asp1508=) c.4596C= (p.Asp1532=) | |
| 3 | g.38554439G>T | CA352143918 | SCN5A | c.4650C>A (p.Asp1550Glu) c.4653C>A (p.Asp1551Glu) c.4599C>A (p.Asp1533Glu) c.4491C>A (p.Asp1497Glu) n.111C>A c.4524C>A (p.Asp1508Glu) c.4596C>A (p.Asp1532Glu) | |
| 3 | g.38554440T>A | CA352143919 | SCN5A | c.4649A>T (p.Asp1550Val) c.4652A>T (p.Asp1551Val) c.4598A>T (p.Asp1533Val) c.4490A>T (p.Asp1497Val) n.110A>T c.4523A>T (p.Asp1508Val) c.4595A>T (p.Asp1532Val) | |
| 3 | g.38554440T>C | CA352143920 | SCN5A | c.4649A>G (p.Asp1550Gly) c.4652A>G (p.Asp1551Gly) c.4598A>G (p.Asp1533Gly) c.4490A>G (p.Asp1497Gly) n.110A>G c.4523A>G (p.Asp1508Gly) c.4595A>G (p.Asp1532Gly) | |
| 3 | g.38554440T>G | CA352143921 | SCN5A | c.4649A>C (p.Asp1550Ala) c.4652A>C (p.Asp1551Ala) c.4598A>C (p.Asp1533Ala) c.4490A>C (p.Asp1497Ala) n.110A>C c.4523A>C (p.Asp1508Ala) c.4595A>C (p.Asp1532Ala) | |
| 3 | g.38554441C>A | CA352143922 | SCN5A | c.4648G>T (p.Asp1550Tyr) c.4651G>T (p.Asp1551Tyr) c.4597G>T (p.Asp1533Tyr) c.4489G>T (p.Asp1497Tyr) n.109G>T c.4522G>T (p.Asp1508Tyr) c.4594G>T (p.Asp1532Tyr) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38554441C= | CA1358563380 | SCN5A | c.4648G= (p.Asp1550=) c.4651G= (p.Asp1551=) c.4597G= (p.Asp1533=) c.4489G= (p.Asp1497=) n.109G= c.4522G= (p.Asp1508=) c.4594G= (p.Asp1532=) | |
| 3 | g.38554441C>G | CA352143923 | SCN5A | c.4648G>C (p.Asp1550His) c.4651G>C (p.Asp1551His) c.4597G>C (p.Asp1533His) c.4489G>C (p.Asp1497His) n.109G>C c.4522G>C (p.Asp1508His) c.4594G>C (p.Asp1532His) | |
| 3 | g.38554441C>T | CA063486 | SCN5A | c.4648G>A (p.Asp1550Asn) c.4651G>A (p.Asp1551Asn) c.4597G>A (p.Asp1533Asn) c.4489G>A (p.Asp1497Asn) n.109G>A c.4522G>A (p.Asp1508Asn) c.4594G>A (p.Asp1532Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38554442A>C | CA352143924 | SCN5A | c.4647T>G (p.Asp1549Glu) c.4650T>G (p.Asp1550Glu) c.4596T>G (p.Asp1532Glu) c.4488T>G (p.Asp1496Glu) n.108T>G c.4521T>G (p.Asp1507Glu) c.4593T>G (p.Asp1531Glu) | |
| 3 | g.38554442A>G | CA433134725 | SCN5A | c.4647T>C (p.Asp1549=) c.4650T>C (p.Asp1550=) c.4596T>C (p.Asp1532=) c.4488T>C (p.Asp1496=) n.108T>C c.4521T>C (p.Asp1507=) c.4593T>C (p.Asp1531=) | |
| 3 | g.38554442A>T | CA352143925 | SCN5A | c.4647T>A (p.Asp1549Glu) c.4650T>A (p.Asp1550Glu) c.4596T>A (p.Asp1532Glu) c.4488T>A (p.Asp1496Glu) n.108T>A c.4521T>A (p.Asp1507Glu) c.4593T>A (p.Asp1531Glu) | |
| 3 | g.38554443T>A | CA352143926 | SCN5A | c.4646A>T (p.Asp1549Val) c.4649A>T (p.Asp1550Val) c.4595A>T (p.Asp1532Val) c.4487A>T (p.Asp1496Val) n.107A>T c.4520A>T (p.Asp1507Val) c.4592A>T (p.Asp1531Val) | |
| 3 | g.38554443T>C | CA352143927 | SCN5A | c.4646A>G (p.Asp1549Gly) c.4649A>G (p.Asp1550Gly) c.4595A>G (p.Asp1532Gly) c.4487A>G (p.Asp1496Gly) n.107A>G c.4520A>G (p.Asp1507Gly) c.4592A>G (p.Asp1531Gly) | |
| 3 | g.38554443T>G | CA352143928 | SCN5A | c.4646A>C (p.Asp1549Ala) c.4649A>C (p.Asp1550Ala) c.4595A>C (p.Asp1532Ala) c.4487A>C (p.Asp1496Ala) n.107A>C c.4520A>C (p.Asp1507Ala) c.4592A>C (p.Asp1531Ala) | |
| 3 | g.38554444C>A | CA352143929 | SCN5A | c.4645G>T (p.Asp1549Tyr) c.4648G>T (p.Asp1550Tyr) c.4594G>T (p.Asp1532Tyr) c.4486G>T (p.Asp1496Tyr) n.106G>T c.4519G>T (p.Asp1507Tyr) c.4591G>T (p.Asp1531Tyr) | |
| 3 | g.38554444C>G | CA352143930 | SCN5A | c.4645G>C (p.Asp1549His) c.4648G>C (p.Asp1550His) c.4594G>C (p.Asp1532His) c.4486G>C (p.Asp1496His) n.106G>C c.4519G>C (p.Asp1507His) c.4591G>C (p.Asp1531His) | |
| 3 | g.38554444C>T | CA352143931 | SCN5A | c.4645G>A (p.Asp1549Asn) c.4648G>A (p.Asp1550Asn) c.4594G>A (p.Asp1532Asn) c.4486G>A (p.Asp1496Asn) n.106G>A c.4519G>A (p.Asp1507Asn) c.4591G>A (p.Asp1531Asn) | |
| 3 | g.38554445T>A | CA433134730 | SCN5A | c.4644A>T (p.Thr1548=) c.4647A>T (p.Thr1549=) c.4593A>T (p.Thr1531=) c.4485A>T (p.Thr1495=) n.105A>T c.4518A>T (p.Thr1506=) c.4590A>T (p.Thr1530=) | |
| 3 | g.38554445T>C | CA433134732 | SCN5A | c.4644A>G (p.Thr1548=) c.4647A>G (p.Thr1549=) c.4593A>G (p.Thr1531=) c.4485A>G (p.Thr1495=) n.105A>G c.4518A>G (p.Thr1506=) c.4590A>G (p.Thr1530=) | |
| 3 | g.38554445T>G | CA433134734 | SCN5A | c.4644A>C (p.Thr1548=) c.4647A>C (p.Thr1549=) c.4593A>C (p.Thr1531=) c.4485A>C (p.Thr1495=) n.105A>C c.4518A>C (p.Thr1506=) c.4590A>C (p.Thr1530=) | gnomAD v4 |
| 3 | g.38554446G>A | CA352143932 | SCN5A | c.4643C>T (p.Thr1548Ile) c.4646C>T (p.Thr1549Ile) c.4592C>T (p.Thr1531Ile) c.4484C>T (p.Thr1495Ile) n.104C>T c.4517C>T (p.Thr1506Ile) c.4589C>T (p.Thr1530Ile) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38554446G>C | CA352143933 | SCN5A | c.4643C>G (p.Thr1548Arg) c.4646C>G (p.Thr1549Arg) c.4592C>G (p.Thr1531Arg) c.4484C>G (p.Thr1495Arg) n.104C>G c.4517C>G (p.Thr1506Arg) c.4589C>G (p.Thr1530Arg) | gnomAD v4 |
| 3 | g.38554446G= | CA1358563383 | SCN5A | c.4643C= (p.Thr1548=) c.4646C= (p.Thr1549=) c.4592C= (p.Thr1531=) c.4484C= (p.Thr1495=) n.104C= c.4517C= (p.Thr1506=) c.4589C= (p.Thr1530=) | |
| 3 | g.38554446G>T | CA352143934 | SCN5A | c.4643C>A (p.Thr1548Lys) c.4646C>A (p.Thr1549Lys) c.4592C>A (p.Thr1531Lys) c.4484C>A (p.Thr1495Lys) n.104C>A c.4517C>A (p.Thr1506Lys) c.4589C>A (p.Thr1530Lys) | |
| 3 | g.38554447T>A | CA352143935 | SCN5A | c.4642A>T (p.Thr1548Ser) c.4645A>T (p.Thr1549Ser) c.4591A>T (p.Thr1531Ser) c.4483A>T (p.Thr1495Ser) n.103A>T c.4516A>T (p.Thr1506Ser) c.4588A>T (p.Thr1530Ser) | |
| 3 | g.38554447T>C | CA352143936 | SCN5A | c.4642A>G (p.Thr1548Ala) c.4645A>G (p.Thr1549Ala) c.4591A>G (p.Thr1531Ala) c.4483A>G (p.Thr1495Ala) n.103A>G c.4516A>G (p.Thr1506Ala) c.4588A>G (p.Thr1530Ala) | ClinVar dbSNP |
| 3 | g.38554447T>G | CA352143937 | SCN5A | c.4642A>C (p.Thr1548Pro) c.4645A>C (p.Thr1549Pro) c.4591A>C (p.Thr1531Pro) c.4483A>C (p.Thr1495Pro) n.103A>C c.4516A>C (p.Thr1506Pro) c.4588A>C (p.Thr1530Pro) | |
| 3 | g.38554447T= | CA1358563385 | SCN5A | c.4642A= (p.Thr1548=) c.4645A= (p.Thr1549=) c.4591A= (p.Thr1531=) c.4483A= (p.Thr1495=) n.103A= c.4516A= (p.Thr1506=) c.4588A= (p.Thr1530=) | |
| 3 | g.38554448C>A | CA352143938 | SCN5A | c.4641G>T (p.Glu1547Asp) c.4644G>T (p.Glu1548Asp) c.4590G>T (p.Glu1530Asp) c.4482G>T (p.Glu1494Asp) n.102G>T c.4515G>T (p.Glu1505Asp) c.4587G>T (p.Glu1529Asp) | |
| 3 | g.38554448C= | CA1358563389 | SCN5A | c.4641G= (p.Glu1547=) c.4644G= (p.Glu1548=) c.4590G= (p.Glu1530=) c.4482G= (p.Glu1494=) n.102G= c.4515G= (p.Glu1505=) c.4587G= (p.Glu1529=) | |
| 3 | g.38554448C>G | CA352143939 | SCN5A | c.4641G>C (p.Glu1547Asp) c.4644G>C (p.Glu1548Asp) c.4590G>C (p.Glu1530Asp) c.4482G>C (p.Glu1494Asp) n.102G>C c.4515G>C (p.Glu1505Asp) c.4587G>C (p.Glu1529Asp) | ClinVar dbSNP |
| 3 | g.38554448C>T | CA433134740 | SCN5A | c.4641G>A (p.Glu1547=) c.4644G>A (p.Glu1548=) c.4590G>A (p.Glu1530=) c.4482G>A (p.Glu1494=) n.102G>A c.4515G>A (p.Glu1505=) c.4587G>A (p.Glu1529=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38554449T>A | CA352143940 | SCN5A | c.4640A>T (p.Glu1547Val) c.4643A>T (p.Glu1548Val) c.4589A>T (p.Glu1530Val) c.4481A>T (p.Glu1494Val) n.101A>T c.4514A>T (p.Glu1505Val) c.4586A>T (p.Glu1529Val) | |
| 3 | g.38554449T>C | CA352143941 | SCN5A | c.4640A>G (p.Glu1547Gly) c.4643A>G (p.Glu1548Gly) c.4589A>G (p.Glu1530Gly) c.4481A>G (p.Glu1494Gly) n.101A>G c.4514A>G (p.Glu1505Gly) c.4586A>G (p.Glu1529Gly) | ClinVar dbSNP |
| 3 | g.38554449T>G | CA352143942 | SCN5A | c.4640A>C (p.Glu1547Ala) c.4643A>C (p.Glu1548Ala) c.4589A>C (p.Glu1530Ala) c.4481A>C (p.Glu1494Ala) n.101A>C c.4514A>C (p.Glu1505Ala) c.4586A>C (p.Glu1529Ala) | |
| 3 | g.38554450C>A | CA352143943 | SCN5A | c.4639G>T (p.Glu1547Ter) c.4642G>T (p.Glu1548Ter) c.4588G>T (p.Glu1530Ter) c.4480G>T (p.Glu1494Ter) n.100G>T c.4513G>T (p.Glu1505Ter) c.4585G>T (p.Glu1529Ter) | dbSNP |
| 3 | g.38554450C= | CA1358563392 | SCN5A | c.4639G= (p.Glu1547=) c.4642G= (p.Glu1548=) c.4588G= (p.Glu1530=) c.4480G= (p.Glu1494=) n.100G= c.4513G= (p.Glu1505=) c.4585G= (p.Glu1529=) | |
| 3 | g.38554450C>G | CA352143944 | SCN5A | c.4639G>C (p.Glu1547Gln) c.4642G>C (p.Glu1548Gln) c.4588G>C (p.Glu1530Gln) c.4480G>C (p.Glu1494Gln) n.100G>C c.4513G>C (p.Glu1505Gln) c.4585G>C (p.Glu1529Gln) | |
| 3 | g.38554450C>T | CA018462 | SCN5A | c.4639G>A (p.Glu1547Lys) c.4642G>A (p.Glu1548Lys) c.4588G>A (p.Glu1530Lys) c.4480G>A (p.Glu1494Lys) n.100G>A c.4513G>A (p.Glu1505Lys) c.4585G>A (p.Glu1529Lys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38554451C>A | CA10582190 | SCN5A | c.4638G>T (p.Val1546=) c.4641G>T (p.Val1547=) c.4587G>T (p.Val1529=) c.4479G>T (p.Val1493=) n.99G>T c.4512G>T (p.Val1504=) c.4584G>T (p.Val1528=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38554451C= | CA1358563395 | SCN5A | c.4638G= (p.Val1546=) c.4641G= (p.Val1547=) c.4587G= (p.Val1529=) c.4479G= (p.Val1493=) n.99G= c.4512G= (p.Val1504=) c.4584G= (p.Val1528=) | |
| 3 | g.38554451C>G | CA433134746 | SCN5A | c.4638G>C (p.Val1546=) c.4641G>C (p.Val1547=) c.4587G>C (p.Val1529=) c.4479G>C (p.Val1493=) n.99G>C c.4512G>C (p.Val1504=) c.4584G>C (p.Val1528=) | |
| 3 | g.38554451C>T | CA433134744 | SCN5A | c.4638G>A (p.Val1546=) c.4641G>A (p.Val1547=) c.4587G>A (p.Val1529=) c.4479G>A (p.Val1493=) n.99G>A c.4512G>A (p.Val1504=) c.4584G>A (p.Val1528=) | |
| 3 | g.38554452A>C | CA352143945 | SCN5A | c.4637T>G (p.Val1546Gly) c.4640T>G (p.Val1547Gly) c.4586T>G (p.Val1529Gly) c.4478T>G (p.Val1493Gly) n.98T>G c.4511T>G (p.Val1504Gly) c.4583T>G (p.Val1528Gly) | |
| 3 | g.38554452A>G | CA352143946 | SCN5A | c.4637T>C (p.Val1546Ala) c.4640T>C (p.Val1547Ala) c.4586T>C (p.Val1529Ala) c.4478T>C (p.Val1493Ala) n.98T>C c.4511T>C (p.Val1504Ala) c.4583T>C (p.Val1528Ala) | COSMIC COSMIC COSMIC |
| 3 | g.38554452A>T | CA352143947 | SCN5A | c.4637T>A (p.Val1546Glu) c.4640T>A (p.Val1547Glu) c.4586T>A (p.Val1529Glu) c.4478T>A (p.Val1493Glu) n.98T>A c.4511T>A (p.Val1504Glu) c.4583T>A (p.Val1528Glu) | |
| 3 | g.38554453C>A | CA352143948 | SCN5A | c.4636G>T (p.Val1546Leu) c.4639G>T (p.Val1547Leu) c.4585G>T (p.Val1529Leu) c.4477G>T (p.Val1493Leu) n.97G>T c.4510G>T (p.Val1504Leu) c.4582G>T (p.Val1528Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38554453C= | CA1358563398 | SCN5A | c.4636G= (p.Val1546=) c.4639G= (p.Val1547=) c.4585G= (p.Val1529=) c.4477G= (p.Val1493=) n.97G= c.4510G= (p.Val1504=) c.4582G= (p.Val1528=) | |
| 3 | g.38554453C>G | CA352143949 | SCN5A | c.4636G>C (p.Val1546Leu) c.4639G>C (p.Val1547Leu) c.4585G>C (p.Val1529Leu) c.4477G>C (p.Val1493Leu) n.97G>C c.4510G>C (p.Val1504Leu) c.4582G>C (p.Val1528Leu) | |
| 3 | g.38554453C>T | CA352143950 | SCN5A | c.4636G>A (p.Val1546Met) c.4639G>A (p.Val1547Met) c.4585G>A (p.Val1529Met) c.4477G>A (p.Val1493Met) n.97G>A c.4510G>A (p.Val1504Met) c.4582G>A (p.Val1528Met) | gnomAD v4 |
| 3 | g.38554454C>A | CA352143952 | SCN5A | c.4635G>T (p.Met1545Ile) c.4638G>T (p.Met1546Ile) c.4584G>T (p.Met1528Ile) c.4476G>T (p.Met1492Ile) n.96G>T c.4509G>T (p.Met1503Ile) c.4581G>T (p.Met1527Ile) | |
| 3 | g.38554454C>G | CA352143953 | SCN5A | c.4635G>C (p.Met1545Ile) c.4638G>C (p.Met1546Ile) c.4584G>C (p.Met1528Ile) c.4476G>C (p.Met1492Ile) n.96G>C c.4509G>C (p.Met1503Ile) c.4581G>C (p.Met1527Ile) | gnomAD v4 |
| 3 | g.38554454C>T | CA352143951 | SCN5A | c.4635G>A (p.Met1545Ile) c.4638G>A (p.Met1546Ile) c.4584G>A (p.Met1528Ile) c.4476G>A (p.Met1492Ile) n.96G>A c.4509G>A (p.Met1503Ile) c.4581G>A (p.Met1527Ile) | |
| 3 | g.38554455A= | CA1358563400 | SCN5A | c.4634T= (p.Met1545=) c.4637T= (p.Met1546=) c.4583T= (p.Met1528=) c.4475T= (p.Met1492=) n.95T= c.4508T= (p.Met1503=) c.4580T= (p.Met1527=) | |
| 3 | g.38554455A>C | CA352143954 | SCN5A | c.4634T>G (p.Met1545Arg) c.4637T>G (p.Met1546Arg) c.4583T>G (p.Met1528Arg) c.4475T>G (p.Met1492Arg) n.95T>G c.4508T>G (p.Met1503Arg) c.4580T>G (p.Met1527Arg) | |
| 3 | g.38554455A>G | CA352143955 | SCN5A | c.4634T>C (p.Met1545Thr) c.4637T>C (p.Met1546Thr) c.4583T>C (p.Met1528Thr) c.4475T>C (p.Met1492Thr) n.95T>C c.4508T>C (p.Met1503Thr) c.4580T>C (p.Met1527Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38554455A>T | CA352143956 | SCN5A | c.4634T>A (p.Met1545Lys) c.4637T>A (p.Met1546Lys) c.4583T>A (p.Met1528Lys) c.4475T>A (p.Met1492Lys) n.95T>A c.4508T>A (p.Met1503Lys) c.4580T>A (p.Met1527Lys) | |
| 3 | g.38554456T>A | CA352143957 | SCN5A | c.4633A>T (p.Met1545Leu) c.4636A>T (p.Met1546Leu) c.4582A>T (p.Met1528Leu) c.4474A>T (p.Met1492Leu) n.94A>T c.4507A>T (p.Met1503Leu) c.4579A>T (p.Met1527Leu) | |
| 3 | g.38554456T>C | CA352143958 | SCN5A | c.4633A>G (p.Met1545Val) c.4636A>G (p.Met1546Val) c.4582A>G (p.Met1528Val) c.4474A>G (p.Met1492Val) n.94A>G c.4507A>G (p.Met1503Val) c.4579A>G (p.Met1527Val) | |
| 3 | g.38554456T>G | CA352143959 | SCN5A | c.4633A>C (p.Met1545Leu) c.4636A>C (p.Met1546Leu) c.4582A>C (p.Met1528Leu) c.4474A>C (p.Met1492Leu) n.94A>C c.4507A>C (p.Met1503Leu) c.4579A>C (p.Met1527Leu) | |
| 3 | g.38554457C>A | CA352143962 | SCN5A | c.4632G>T (p.Met1544Ile) c.4635G>T (p.Met1545Ile) c.4581G>T (p.Met1527Ile) c.4473G>T (p.Met1491Ile) n.93G>T c.4506G>T (p.Met1502Ile) c.4578G>T (p.Met1526Ile) | |
| 3 | g.38554457C>G | CA352143960 | SCN5A | c.4632G>C (p.Met1544Ile) c.4635G>C (p.Met1545Ile) c.4581G>C (p.Met1527Ile) c.4473G>C (p.Met1491Ile) n.93G>C c.4506G>C (p.Met1502Ile) c.4578G>C (p.Met1526Ile) | |
| 3 | g.38554457C>T | CA352143961 | SCN5A | c.4632G>A (p.Met1544Ile) c.4635G>A (p.Met1545Ile) c.4581G>A (p.Met1527Ile) c.4473G>A (p.Met1491Ile) n.93G>A c.4506G>A (p.Met1502Ile) c.4578G>A (p.Met1526Ile) | |
| 3 | g.38554458A= | CA1358563401 | SCN5A | c.4631T= (p.Met1544=) c.4634T= (p.Met1545=) c.4580T= (p.Met1527=) c.4472T= (p.Met1491=) n.92T= c.4505T= (p.Met1502=) c.4577T= (p.Met1526=) | |
| 3 | g.38554458A>C | CA352143963 | SCN5A | c.4631T>G (p.Met1544Arg) c.4634T>G (p.Met1545Arg) c.4580T>G (p.Met1527Arg) c.4472T>G (p.Met1491Arg) n.92T>G c.4505T>G (p.Met1502Arg) c.4577T>G (p.Met1526Arg) | |
| 3 | g.38554458A>G | CA352143964 | SCN5A | c.4631T>C (p.Met1544Thr) c.4634T>C (p.Met1545Thr) c.4580T>C (p.Met1527Thr) c.4472T>C (p.Met1491Thr) n.92T>C c.4505T>C (p.Met1502Thr) c.4577T>C (p.Met1526Thr) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38554458A>T | CA352143965 | SCN5A | c.4631T>A (p.Met1544Lys) c.4634T>A (p.Met1545Lys) c.4580T>A (p.Met1527Lys) c.4472T>A (p.Met1491Lys) n.92T>A c.4505T>A (p.Met1502Lys) c.4577T>A (p.Met1526Lys) | |
| 3 | g.38554459T>A | CA352143966 | SCN5A | c.4630A>T (p.Met1544Leu) c.4633A>T (p.Met1545Leu) c.4579A>T (p.Met1527Leu) c.4471A>T (p.Met1491Leu) n.91A>T c.4504A>T (p.Met1502Leu) c.4576A>T (p.Met1526Leu) | |
| 3 | g.38554459T>C | CA352143967 | SCN5A | c.4630A>G (p.Met1544Val) c.4633A>G (p.Met1545Val) c.4579A>G (p.Met1527Val) c.4471A>G (p.Met1491Val) n.91A>G c.4504A>G (p.Met1502Val) c.4576A>G (p.Met1526Val) | |
| 3 | g.38554459T>G | CA352143968 | SCN5A | c.4630A>C (p.Met1544Leu) c.4633A>C (p.Met1545Leu) c.4579A>C (p.Met1527Leu) c.4471A>C (p.Met1491Leu) n.91A>C c.4504A>C (p.Met1502Leu) c.4576A>C (p.Met1526Leu) | |
| 3 | g.38554460G>A | CA433134763 | SCN5A | c.4629C>T (p.Thr1543=) c.4632C>T (p.Thr1544=) c.4578C>T (p.Thr1526=) c.4470C>T (p.Thr1490=) n.90C>T c.4503C>T (p.Thr1501=) c.4575C>T (p.Thr1525=) | ClinVar COSMIC COSMIC COSMIC |
| 3 | g.38554460G>C | CA433134764 | SCN5A | c.4629C>G (p.Thr1543=) c.4632C>G (p.Thr1544=) c.4578C>G (p.Thr1526=) c.4470C>G (p.Thr1490=) n.90C>G c.4503C>G (p.Thr1501=) c.4575C>G (p.Thr1525=) | |
| 3 | g.38554460G>T | CA433134766 | SCN5A | c.4629C>A (p.Thr1543=) c.4632C>A (p.Thr1544=) c.4578C>A (p.Thr1526=) c.4470C>A (p.Thr1490=) n.90C>A c.4503C>A (p.Thr1501=) c.4575C>A (p.Thr1525=) | |
| 3 | g.38554461G>A | CA352143969 | SCN5A | c.4628C>T (p.Thr1543Ile) c.4631C>T (p.Thr1544Ile) c.4577C>T (p.Thr1526Ile) c.4469C>T (p.Thr1490Ile) n.89C>T c.4502C>T (p.Thr1501Ile) c.4574C>T (p.Thr1525Ile) | ClinVar dbSNP |
| 3 | g.38554461G>C | CA352143971 | SCN5A | c.4628C>G (p.Thr1543Ser) c.4631C>G (p.Thr1544Ser) c.4577C>G (p.Thr1526Ser) c.4469C>G (p.Thr1490Ser) n.89C>G c.4502C>G (p.Thr1501Ser) c.4574C>G (p.Thr1525Ser) | |
| 3 | g.38554461G= | CA1358563402 | SCN5A | c.4628C= (p.Thr1543=) c.4631C= (p.Thr1544=) c.4577C= (p.Thr1526=) c.4469C= (p.Thr1490=) n.89C= c.4502C= (p.Thr1501=) c.4574C= (p.Thr1525=) | |
| 3 | g.38554461G>T | CA352143970 | SCN5A | c.4628C>A (p.Thr1543Asn) c.4631C>A (p.Thr1544Asn) c.4577C>A (p.Thr1526Asn) c.4469C>A (p.Thr1490Asn) n.89C>A c.4502C>A (p.Thr1501Asn) c.4574C>A (p.Thr1525Asn) | |
| 3 | g.38554462T>A | CA352143972 | SCN5A | c.4627A>T (p.Thr1543Ser) c.4630A>T (p.Thr1544Ser) c.4576A>T (p.Thr1526Ser) c.4468A>T (p.Thr1490Ser) n.88A>T c.4501A>T (p.Thr1501Ser) c.4573A>T (p.Thr1525Ser) | |
| 3 | g.38554462T>C | CA352143973 | SCN5A | c.4627A>G (p.Thr1543Ala) c.4630A>G (p.Thr1544Ala) c.4576A>G (p.Thr1526Ala) c.4468A>G (p.Thr1490Ala) n.88A>G c.4501A>G (p.Thr1501Ala) c.4573A>G (p.Thr1525Ala) | dbSNP |
| 3 | g.38554462T>G | CA352143974 | SCN5A | c.4627A>C (p.Thr1543Pro) c.4630A>C (p.Thr1544Pro) c.4576A>C (p.Thr1526Pro) c.4468A>C (p.Thr1490Pro) n.88A>C c.4501A>C (p.Thr1501Pro) c.4573A>C (p.Thr1525Pro) | |
| 3 | g.38554462T= | CA1358563405 | SCN5A | c.4627A= (p.Thr1543=) c.4630A= (p.Thr1544=) c.4576A= (p.Thr1526=) c.4468A= (p.Thr1490=) n.88A= c.4501A= (p.Thr1501=) c.4573A= (p.Thr1525=) | |
| 3 | g.38554463C>A | CA433134771 | SCN5A | c.4626G>T (p.Val1542=) c.4629G>T (p.Val1543=) c.4575G>T (p.Val1525=) c.4467G>T (p.Val1489=) n.87G>T c.4500G>T (p.Val1500=) c.4572G>T (p.Val1524=) | |
| 3 | g.38554463C= | CA1358563407 | SCN5A | c.4626G= (p.Val1542=) c.4629G= (p.Val1543=) c.4575G= (p.Val1525=) c.4467G= (p.Val1489=) n.87G= c.4500G= (p.Val1500=) c.4572G= (p.Val1524=) | |
| 3 | g.38554463C>G | CA433134773 | SCN5A | c.4626G>C (p.Val1542=) c.4629G>C (p.Val1543=) c.4575G>C (p.Val1525=) c.4467G>C (p.Val1489=) n.87G>C c.4500G>C (p.Val1500=) c.4572G>C (p.Val1524=) | |
| 3 | g.38554463C>T | CA433134774 | SCN5A | c.4626G>A (p.Val1542=) c.4629G>A (p.Val1543=) c.4575G>A (p.Val1525=) c.4467G>A (p.Val1489=) n.87G>A c.4500G>A (p.Val1500=) c.4572G>A (p.Val1524=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38554464A= | CA1358563410 | SCN5A | c.4625T= (p.Val1542=) c.4628T= (p.Val1543=) c.4574T= (p.Val1525=) c.4466T= (p.Val1489=) n.86T= c.4499T= (p.Val1500=) c.4571T= (p.Val1524=) | |
| 3 | g.38554464A>C | CA352143975 | SCN5A | c.4625T>G (p.Val1542Gly) c.4628T>G (p.Val1543Gly) c.4574T>G (p.Val1525Gly) c.4466T>G (p.Val1489Gly) n.86T>G c.4499T>G (p.Val1500Gly) c.4571T>G (p.Val1524Gly) | |
| 3 | g.38554464A>G | CA72942476 | SCN5A | c.4625T>C (p.Val1542Ala) c.4628T>C (p.Val1543Ala) c.4574T>C (p.Val1525Ala) c.4466T>C (p.Val1489Ala) n.86T>C c.4499T>C (p.Val1500Ala) c.4571T>C (p.Val1524Ala) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38554464A>T | CA352143976 | SCN5A | c.4625T>A (p.Val1542Glu) c.4628T>A (p.Val1543Glu) c.4574T>A (p.Val1525Glu) c.4466T>A (p.Val1489Glu) n.86T>A c.4499T>A (p.Val1500Glu) c.4571T>A (p.Val1524Glu) | |
| 3 | g.38554465C>A | CA352143977 | SCN5A | c.4624G>T (p.Val1542Leu) c.4627G>T (p.Val1543Leu) c.4573G>T (p.Val1525Leu) c.4465G>T (p.Val1489Leu) n.85G>T c.4498G>T (p.Val1500Leu) c.4570G>T (p.Val1524Leu) | |
| 3 | g.38554465C= | CA1358563413 | SCN5A | c.4624G= (p.Val1542=) c.4627G= (p.Val1543=) c.4573G= (p.Val1525=) c.4465G= (p.Val1489=) n.85G= c.4498G= (p.Val1500=) c.4570G= (p.Val1524=) | |
| 3 | g.38554465C>G | CA063478 | SCN5A | c.4624G>C (p.Val1542Leu) c.4627G>C (p.Val1543Leu) c.4573G>C (p.Val1525Leu) c.4465G>C (p.Val1489Leu) n.85G>C c.4498G>C (p.Val1500Leu) c.4570G>C (p.Val1524Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38554465C>T | CA352143978 | SCN5A | c.4624G>A (p.Val1542Met) c.4627G>A (p.Val1543Met) c.4573G>A (p.Val1525Met) c.4465G>A (p.Val1489Met) n.85G>A c.4498G>A (p.Val1500Met) c.4570G>A (p.Val1524Met) | COSMIC |
| 3 | g.38554466C>A | CA352143979 | SCN5A | c.4623G>T (p.Met1541Ile) c.4626G>T (p.Met1542Ile) c.4572G>T (p.Met1524Ile) c.4464G>T (p.Met1488Ile) n.84G>T c.4497G>T (p.Met1499Ile) c.4569G>T (p.Met1523Ile) | |
| 3 | g.38554466C= | CA1358563415 | SCN5A | c.4623G= (p.Met1541=) c.4626G= (p.Met1542=) c.4572G= (p.Met1524=) c.4464G= (p.Met1488=) n.84G= c.4497G= (p.Met1499=) c.4569G= (p.Met1523=) | |
| 3 | g.38554466C>G | CA352143980 | SCN5A | c.4623G>C (p.Met1541Ile) c.4626G>C (p.Met1542Ile) c.4572G>C (p.Met1524Ile) c.4464G>C (p.Met1488Ile) n.84G>C c.4497G>C (p.Met1499Ile) c.4569G>C (p.Met1523Ile) | |
| 3 | g.38554466C>T | CA352143981 | SCN5A | c.4623G>A (p.Met1541Ile) c.4626G>A (p.Met1542Ile) c.4572G>A (p.Met1524Ile) c.4464G>A (p.Met1488Ile) n.84G>A c.4497G>A (p.Met1499Ile) c.4569G>A (p.Met1523Ile) | dbSNP |
| 3 | g.38554467A>C | CA352143984 | SCN5A | c.4622T>G (p.Met1541Arg) c.4625T>G (p.Met1542Arg) c.4571T>G (p.Met1524Arg) c.4463T>G (p.Met1488Arg) n.83T>G c.4496T>G (p.Met1499Arg) c.4568T>G (p.Met1523Arg) | |
| 3 | g.38554467A>G | CA352143982 | SCN5A | c.4622T>C (p.Met1541Thr) c.4625T>C (p.Met1542Thr) c.4571T>C (p.Met1524Thr) c.4463T>C (p.Met1488Thr) n.83T>C c.4496T>C (p.Met1499Thr) c.4568T>C (p.Met1523Thr) | |
| 3 | g.38554467A>T | CA352143983 | SCN5A | c.4622T>A (p.Met1541Lys) c.4625T>A (p.Met1542Lys) c.4571T>A (p.Met1524Lys) c.4463T>A (p.Met1488Lys) n.83T>A c.4496T>A (p.Met1499Lys) c.4568T>A (p.Met1523Lys) | |
| 3 | g.38554468T>A | CA352143985 | SCN5A | c.4621A>T (p.Met1541Leu) c.4624A>T (p.Met1542Leu) c.4570A>T (p.Met1524Leu) c.4462A>T (p.Met1488Leu) n.82A>T c.4495A>T (p.Met1499Leu) c.4567A>T (p.Met1523Leu) | |
| 3 | g.38554468T>C | CA352143986 | SCN5A | c.4621A>G (p.Met1541Val) c.4624A>G (p.Met1542Val) c.4570A>G (p.Met1524Val) c.4462A>G (p.Met1488Val) n.82A>G c.4495A>G (p.Met1499Val) c.4567A>G (p.Met1523Val) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38554468T>G | CA352143987 | SCN5A | c.4621A>C (p.Met1541Leu) c.4624A>C (p.Met1542Leu) c.4570A>C (p.Met1524Leu) c.4462A>C (p.Met1488Leu) n.82A>C c.4495A>C (p.Met1499Leu) c.4567A>C (p.Met1523Leu) | |
| 3 | g.38554468T= | CA1358563417 | SCN5A | c.4621A= (p.Met1541=) c.4624A= (p.Met1542=) c.4570A= (p.Met1524=) c.4462A= (p.Met1488=) n.82A= c.4495A= (p.Met1499=) c.4567A= (p.Met1523=) | |
| 3 | g.38554469A>C | CA352143988 | SCN5A | c.4620T>G (p.Asn1540Lys) c.4623T>G (p.Asn1541Lys) c.4569T>G (p.Asn1523Lys) c.4461T>G (p.Asn1487Lys) n.81T>G c.4494T>G (p.Asn1498Lys) c.4566T>G (p.Asn1522Lys) | |
| 3 | g.38554469A>G | CA433134786 | SCN5A | c.4620T>C (p.Asn1540=) c.4623T>C (p.Asn1541=) c.4569T>C (p.Asn1523=) c.4461T>C (p.Asn1487=) n.81T>C c.4494T>C (p.Asn1498=) c.4566T>C (p.Asn1522=) | |
| 3 | g.38554469A>T | CA352143989 | SCN5A | c.4620T>A (p.Asn1540Lys) c.4623T>A (p.Asn1541Lys) c.4569T>A (p.Asn1523Lys) c.4461T>A (p.Asn1487Lys) n.81T>A c.4494T>A (p.Asn1498Lys) c.4566T>A (p.Asn1522Lys) | |
| 3 | g.38554470T>A | CA352143990 | SCN5A | c.4619A>T (p.Asn1540Ile) c.4622A>T (p.Asn1541Ile) c.4568A>T (p.Asn1523Ile) c.4460A>T (p.Asn1487Ile) n.80A>T c.4493A>T (p.Asn1498Ile) c.4565A>T (p.Asn1522Ile) | |
| 3 | g.38554470T>C | CA352143991 | SCN5A | c.4619A>G (p.Asn1540Ser) c.4622A>G (p.Asn1541Ser) c.4568A>G (p.Asn1523Ser) c.4460A>G (p.Asn1487Ser) n.80A>G c.4493A>G (p.Asn1498Ser) c.4565A>G (p.Asn1522Ser) | |
| 3 | g.38554470T>G | CA352143992 | SCN5A | c.4619A>C (p.Asn1540Thr) c.4622A>C (p.Asn1541Thr) c.4568A>C (p.Asn1523Thr) c.4460A>C (p.Asn1487Thr) n.80A>C c.4493A>C (p.Asn1498Thr) c.4565A>C (p.Asn1522Thr) | |
| 3 | g.38554471del | CA2825001220 | SCN5A | c.4619del (p.Asn1540IlefsTer3) c.4622del (p.Asn1541IlefsTer3) c.4568del (p.Asn1523IlefsTer3) c.4460del (p.Asn1487IlefsTer3) n.80del c.4493del (p.Asn1498IlefsTer3) c.4565del (p.Asn1522IlefsTer3) | ClinVar |
| 3 | g.38554471T>A | CA352143993 | SCN5A | c.4618A>T (p.Asn1540Tyr) c.4621A>T (p.Asn1541Tyr) c.4567A>T (p.Asn1523Tyr) c.4459A>T (p.Asn1487Tyr) n.79A>T c.4492A>T (p.Asn1498Tyr) c.4564A>T (p.Asn1522Tyr) | |
| 3 | g.38554471T>C | CA352143994 | SCN5A | c.4618A>G (p.Asn1540Asp) c.4621A>G (p.Asn1541Asp) c.4567A>G (p.Asn1523Asp) c.4459A>G (p.Asn1487Asp) n.79A>G c.4492A>G (p.Asn1498Asp) c.4564A>G (p.Asn1522Asp) | |
| 3 | g.38554471T>G | CA352143995 | SCN5A | c.4618A>C (p.Asn1540His) c.4621A>C (p.Asn1541His) c.4567A>C (p.Asn1523His) c.4459A>C (p.Asn1487His) n.79A>C c.4492A>C (p.Asn1498His) c.4564A>C (p.Asn1522His) | |
| 3 | g.38554472C>A | CA352143996 | SCN5A | c.4617G>T (p.Leu1539Phe) c.4620G>T (p.Leu1540Phe) c.4566G>T (p.Leu1522Phe) c.4458G>T (p.Leu1486Phe) n.78G>T c.4491G>T (p.Leu1497Phe) c.4563G>T (p.Leu1521Phe) | |
| 3 | g.38554472C>G | CA352143997 | SCN5A | c.4617G>C (p.Leu1539Phe) c.4620G>C (p.Leu1540Phe) c.4566G>C (p.Leu1522Phe) c.4458G>C (p.Leu1486Phe) n.78G>C c.4491G>C (p.Leu1497Phe) c.4563G>C (p.Leu1521Phe) | gnomAD v4 |
| 3 | g.38554472C>T | CA433134793 | SCN5A | c.4617G>A (p.Leu1539=) c.4620G>A (p.Leu1540=) c.4566G>A (p.Leu1522=) c.4458G>A (p.Leu1486=) n.78G>A c.4491G>A (p.Leu1497=) c.4563G>A (p.Leu1521=) | |
| 3 | g.38554473A= | CA1358563419 | SCN5A | c.4616T= (p.Leu1539=) c.4619T= (p.Leu1540=) c.4565T= (p.Leu1522=) c.4457T= (p.Leu1486=) n.77T= c.4490T= (p.Leu1497=) c.4562T= (p.Leu1521=) | |
| 3 | g.38554473A>C | CA352144000 | SCN5A | c.4616T>G (p.Leu1539Trp) c.4619T>G (p.Leu1540Trp) c.4565T>G (p.Leu1522Trp) c.4457T>G (p.Leu1486Trp) n.77T>G c.4490T>G (p.Leu1497Trp) c.4562T>G (p.Leu1521Trp) | |
| 3 | g.38554473A>G | CA352143999 | SCN5A | c.4616T>C (p.Leu1539Ser) c.4619T>C (p.Leu1540Ser) c.4565T>C (p.Leu1522Ser) c.4457T>C (p.Leu1486Ser) n.77T>C c.4490T>C (p.Leu1497Ser) c.4562T>C (p.Leu1521Ser) | |
| 3 | g.38554473A>T | CA352143998 | SCN5A | c.4616T>A (p.Leu1539Ter) c.4619T>A (p.Leu1540Ter) c.4565T>A (p.Leu1522Ter) c.4457T>A (p.Leu1486Ter) n.77T>A c.4490T>A (p.Leu1497Ter) c.4562T>A (p.Leu1521Ter) | dbSNP |
| 3 | g.38554474A= | CA1358563420 | SCN5A | c.4615T= (p.Leu1539=) c.4618T= (p.Leu1540=) c.4564T= (p.Leu1522=) c.4456T= (p.Leu1486=) n.76T= c.4489T= (p.Leu1497=) c.4561T= (p.Leu1521=) | |
| 3 | g.38554474A>C | CA352144001 | SCN5A | c.4615T>G (p.Leu1539Val) c.4618T>G (p.Leu1540Val) c.4564T>G (p.Leu1522Val) c.4456T>G (p.Leu1486Val) n.76T>G c.4489T>G (p.Leu1497Val) c.4561T>G (p.Leu1521Val) | |
| 3 | g.38554474A>G | CA433134796 | SCN5A | c.4615T>C (p.Leu1539=) c.4618T>C (p.Leu1540=) c.4564T>C (p.Leu1522=) c.4456T>C (p.Leu1486=) n.76T>C c.4489T>C (p.Leu1497=) c.4561T>C (p.Leu1521=) | dbSNP |
| 3 | g.38554474A>T | CA352144002 | SCN5A | c.4615T>A (p.Leu1539Met) c.4618T>A (p.Leu1540Met) c.4564T>A (p.Leu1522Met) c.4456T>A (p.Leu1486Met) n.76T>A c.4489T>A (p.Leu1497Met) c.4561T>A (p.Leu1521Met) | |
| 3 | g.38554475G>A | CA433134799 | SCN5A | c.4614C>T (p.Cys1538=) c.4617C>T (p.Cys1539=) c.4563C>T (p.Cys1521=) c.4455C>T (p.Cys1485=) n.75C>T c.4488C>T (p.Cys1496=) c.4560C>T (p.Cys1520=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38554475G>C | CA352144003 | SCN5A | c.4614C>G (p.Cys1538Trp) c.4617C>G (p.Cys1539Trp) c.4563C>G (p.Cys1521Trp) c.4455C>G (p.Cys1485Trp) n.75C>G c.4488C>G (p.Cys1496Trp) c.4560C>G (p.Cys1520Trp) | |
| 3 | g.38554475G= | CA1358563422 | SCN5A | c.4614C= (p.Cys1538=) c.4617C= (p.Cys1539=) c.4563C= (p.Cys1521=) c.4455C= (p.Cys1485=) n.75C= c.4488C= (p.Cys1496=) c.4560C= (p.Cys1520=) | |
| 3 | g.38554475G>T | CA352144004 | SCN5A | c.4614C>A (p.Cys1538Ter) c.4617C>A (p.Cys1539Ter) c.4563C>A (p.Cys1521Ter) c.4455C>A (p.Cys1485Ter) n.75C>A c.4488C>A (p.Cys1496Ter) c.4560C>A (p.Cys1520Ter) | dbSNP |
| 3 | g.38554475_38554476delinsAA | CA1139657970 | SCN5A | c.4613_4614delinsTT (p.Cys1538Phe) c.4616_4617delinsTT (p.Cys1539Phe) c.4562_4563delinsTT (p.Cys1521Phe) c.4454_4455delinsTT (p.Cys1485Phe) n.74_75delinsTT c.4487_4488delinsTT (p.Cys1496Phe) c.4559_4560delinsTT (p.Cys1520Phe) | ClinVar dbSNP |
| 3 | g.38554475_38554476delinsGC | CA1358563423 | SCN5A | c.4613_4614delinsGC (p.Cys1538=) c.4616_4617delinsGC (p.Cys1539=) c.4562_4563delinsGC (p.Cys1521=) c.4454_4455delinsGC (p.Cys1485=) n.74_75delinsGC c.4487_4488delinsGC (p.Cys1496=) c.4559_4560delinsGC (p.Cys1520=) | |
| 3 | g.38554476C>A | CA352144005 | SCN5A | c.4613G>T (p.Cys1538Phe) c.4616G>T (p.Cys1539Phe) c.4562G>T (p.Cys1521Phe) c.4454G>T (p.Cys1485Phe) n.74G>T c.4487G>T (p.Cys1496Phe) c.4559G>T (p.Cys1520Phe) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38554476C= | CA1358563425 | SCN5A | c.4613G= (p.Cys1538=) c.4616G= (p.Cys1539=) c.4562G= (p.Cys1521=) c.4454G= (p.Cys1485=) n.74G= c.4487G= (p.Cys1496=) c.4559G= (p.Cys1520=) | |
| 3 | g.38554476C>G | CA352144006 | SCN5A | c.4613G>C (p.Cys1538Ser) c.4616G>C (p.Cys1539Ser) c.4562G>C (p.Cys1521Ser) c.4454G>C (p.Cys1485Ser) n.74G>C c.4487G>C (p.Cys1496Ser) c.4559G>C (p.Cys1520Ser) | |
| 3 | g.38554476C>T | CA063471 | SCN5A | c.4613G>A (p.Cys1538Tyr) c.4616G>A (p.Cys1539Tyr) c.4562G>A (p.Cys1521Tyr) c.4454G>A (p.Cys1485Tyr) n.74G>A c.4487G>A (p.Cys1496Tyr) c.4559G>A (p.Cys1520Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38554480_38554484dup | CA308149 | SCN5A | c.4609_4613dup (p.Cys1538Ter) c.4612_4616dup (p.Cys1539Ter) c.4558_4562dup (p.Cys1521Ter) c.4450_4454dup (p.Cys1485Ter) n.70_74dup c.4483_4487dup (p.Cys1496Ter) c.4555_4559dup (p.Cys1520Ter) | ClinVar dbSNP |
| 3 | g.38554477A>C | CA352144007 | SCN5A | c.4612T>G (p.Cys1538Gly) c.4615T>G (p.Cys1539Gly) c.4561T>G (p.Cys1521Gly) c.4453T>G (p.Cys1485Gly) n.73T>G c.4486T>G (p.Cys1496Gly) c.4558T>G (p.Cys1520Gly) | |
| 3 | g.38554477A>G | CA352144008 | SCN5A | c.4612T>C (p.Cys1538Arg) c.4615T>C (p.Cys1539Arg) c.4561T>C (p.Cys1521Arg) c.4453T>C (p.Cys1485Arg) n.73T>C c.4486T>C (p.Cys1496Arg) c.4558T>C (p.Cys1520Arg) | |
| 3 | g.38554477A>T | CA352144009 | SCN5A | c.4612T>A (p.Cys1538Ser) c.4615T>A (p.Cys1539Ser) c.4561T>A (p.Cys1521Ser) c.4453T>A (p.Cys1485Ser) n.73T>A c.4486T>A (p.Cys1496Ser) c.4558T>A (p.Cys1520Ser) | |
| 3 | g.38554478G>A | CA433134810 | SCN5A | c.4611C>T (p.Ile1537=) c.4614C>T (p.Ile1538=) c.4560C>T (p.Ile1520=) c.4452C>T (p.Ile1484=) n.72C>T c.4485C>T (p.Ile1495=) c.4557C>T (p.Ile1519=) | dbSNP |
| 3 | g.38554478G>C | CA352144010 | SCN5A | c.4611C>G (p.Ile1537Met) c.4614C>G (p.Ile1538Met) c.4560C>G (p.Ile1520Met) c.4452C>G (p.Ile1484Met) n.72C>G c.4485C>G (p.Ile1495Met) c.4557C>G (p.Ile1519Met) | gnomAD v4 |
| 3 | g.38554478G= | CA1358563427 | SCN5A | c.4611C= (p.Ile1537=) c.4614C= (p.Ile1538=) c.4560C= (p.Ile1520=) c.4452C= (p.Ile1484=) n.72C= c.4485C= (p.Ile1495=) c.4557C= (p.Ile1519=) | |
| 3 | g.38554478G>T | CA433134812 | SCN5A | c.4611C>A (p.Ile1537=) c.4614C>A (p.Ile1538=) c.4560C>A (p.Ile1520=) c.4452C>A (p.Ile1484=) n.72C>A c.4485C>A (p.Ile1495=) c.4557C>A (p.Ile1519=) | |
| 3 | g.38554479A>C | CA352144013 | SCN5A | c.4610T>G (p.Ile1537Ser) c.4613T>G (p.Ile1538Ser) c.4559T>G (p.Ile1520Ser) c.4451T>G (p.Ile1484Ser) n.71T>G c.4484T>G (p.Ile1495Ser) c.4556T>G (p.Ile1519Ser) | |
| 3 | g.38554479A>G | CA352144012 | SCN5A | c.4610T>C (p.Ile1537Thr) c.4613T>C (p.Ile1538Thr) c.4559T>C (p.Ile1520Thr) c.4451T>C (p.Ile1484Thr) n.71T>C c.4484T>C (p.Ile1495Thr) c.4556T>C (p.Ile1519Thr) | |
| 3 | g.38554479A>T | CA352144011 | SCN5A | c.4610T>A (p.Ile1537Asn) c.4613T>A (p.Ile1538Asn) c.4559T>A (p.Ile1520Asn) c.4451T>A (p.Ile1484Asn) n.71T>A c.4484T>A (p.Ile1495Asn) c.4556T>A (p.Ile1519Asn) | |
| 3 | g.38554480T>A | CA352144014 | SCN5A | c.4609A>T (p.Ile1537Phe) c.4612A>T (p.Ile1538Phe) c.4558A>T (p.Ile1520Phe) c.4450A>T (p.Ile1484Phe) n.70A>T c.4483A>T (p.Ile1495Phe) c.4555A>T (p.Ile1519Phe) | |
| 3 | g.38554480T>C | CA352144016 | SCN5A | c.4609A>G (p.Ile1537Val) c.4612A>G (p.Ile1538Val) c.4558A>G (p.Ile1520Val) c.4450A>G (p.Ile1484Val) n.70A>G c.4483A>G (p.Ile1495Val) c.4555A>G (p.Ile1519Val) | |
| 3 | g.38554480T>G | CA352144015 | SCN5A | c.4609A>C (p.Ile1537Leu) c.4612A>C (p.Ile1538Leu) c.4558A>C (p.Ile1520Leu) c.4450A>C (p.Ile1484Leu) n.70A>C c.4483A>C (p.Ile1495Leu) c.4555A>C (p.Ile1519Leu) | |
| 3 | g.38554481C>A | CA433134819 | SCN5A | c.4608G>T (p.Leu1536=) c.4611G>T (p.Leu1537=) c.4557G>T (p.Leu1519=) c.4449G>T (p.Leu1483=) n.69G>T c.4482G>T (p.Leu1494=) c.4554G>T (p.Leu1518=) | |
| 3 | g.38554481C>G | CA433134820 | SCN5A | c.4608G>C (p.Leu1536=) c.4611G>C (p.Leu1537=) c.4557G>C (p.Leu1519=) c.4449G>C (p.Leu1483=) n.69G>C c.4482G>C (p.Leu1494=) c.4554G>C (p.Leu1518=) | gnomAD v4 |
| 3 | g.38554481C>T | CA433134822 | SCN5A | c.4608G>A (p.Leu1536=) c.4611G>A (p.Leu1537=) c.4557G>A (p.Leu1519=) c.4449G>A (p.Leu1483=) n.69G>A c.4482G>A (p.Leu1494=) c.4554G>A (p.Leu1518=) | COSMIC COSMIC COSMIC |
| 3 | g.38554482A>C | CA352144017 | SCN5A | c.4607T>G (p.Leu1536Arg) c.4610T>G (p.Leu1537Arg) c.4556T>G (p.Leu1519Arg) c.4448T>G (p.Leu1483Arg) n.68T>G c.4481T>G (p.Leu1494Arg) c.4553T>G (p.Leu1518Arg) | |
| 3 | g.38554482A>G | CA352144018 | SCN5A | c.4607T>C (p.Leu1536Pro) c.4610T>C (p.Leu1537Pro) c.4556T>C (p.Leu1519Pro) c.4448T>C (p.Leu1483Pro) n.68T>C c.4481T>C (p.Leu1494Pro) c.4553T>C (p.Leu1518Pro) | |
| 3 | g.38554482A>T | CA352144019 | SCN5A | c.4607T>A (p.Leu1536Gln) c.4610T>A (p.Leu1537Gln) c.4556T>A (p.Leu1519Gln) c.4448T>A (p.Leu1483Gln) n.68T>A c.4481T>A (p.Leu1494Gln) c.4553T>A (p.Leu1518Gln) | |
| 3 | g.38554483G>A | CA433134826 | SCN5A | c.4606C>T (p.Leu1536=) c.4609C>T (p.Leu1537=) c.4555C>T (p.Leu1519=) c.4447C>T (p.Leu1483=) n.67C>T c.4480C>T (p.Leu1494=) c.4552C>T (p.Leu1518=) | dbSNP |
| 3 | g.38554483G>C | CA352144020 | SCN5A | c.4606C>G (p.Leu1536Val) c.4609C>G (p.Leu1537Val) c.4555C>G (p.Leu1519Val) c.4447C>G (p.Leu1483Val) n.67C>G c.4480C>G (p.Leu1494Val) c.4552C>G (p.Leu1518Val) | |
| 3 | g.38554483G= | CA1358563428 | SCN5A | c.4606C= (p.Leu1536=) c.4609C= (p.Leu1537=) c.4555C= (p.Leu1519=) c.4447C= (p.Leu1483=) n.67C= c.4480C= (p.Leu1494=) c.4552C= (p.Leu1518=) | |
| 3 | g.38554483G>T | CA352144021 | SCN5A | c.4606C>A (p.Leu1536Met) c.4609C>A (p.Leu1537Met) c.4555C>A (p.Leu1519Met) c.4447C>A (p.Leu1483Met) n.67C>A c.4480C>A (p.Leu1494Met) c.4552C>A (p.Leu1518Met) | |
| 3 | g.38554484A>C | CA352144022 | SCN5A | c.4605T>G (p.Phe1535Leu) c.4608T>G (p.Phe1536Leu) c.4554T>G (p.Phe1518Leu) c.4446T>G (p.Phe1482Leu) n.66T>G c.4479T>G (p.Phe1493Leu) c.4551T>G (p.Phe1517Leu) | |
| 3 | g.38554484A>G | CA433134828 | SCN5A | c.4605T>C (p.Phe1535=) c.4608T>C (p.Phe1536=) c.4554T>C (p.Phe1518=) c.4446T>C (p.Phe1482=) n.66T>C c.4479T>C (p.Phe1493=) c.4551T>C (p.Phe1517=) | |
| 3 | g.38554484A>T | CA352144023 | SCN5A | c.4605T>A (p.Phe1535Leu) c.4608T>A (p.Phe1536Leu) c.4554T>A (p.Phe1518Leu) c.4446T>A (p.Phe1482Leu) n.66T>A c.4479T>A (p.Phe1493Leu) c.4551T>A (p.Phe1517Leu) | |
| 3 | g.38554485A>C | CA352144024 | SCN5A | c.4604T>G (p.Phe1535Cys) c.4607T>G (p.Phe1536Cys) c.4553T>G (p.Phe1518Cys) c.4445T>G (p.Phe1482Cys) n.65T>G c.4478T>G (p.Phe1493Cys) c.4550T>G (p.Phe1517Cys) | |
| 3 | g.38554485A>G | CA352144025 | SCN5A | c.4604T>C (p.Phe1535Ser) c.4607T>C (p.Phe1536Ser) c.4553T>C (p.Phe1518Ser) c.4445T>C (p.Phe1482Ser) n.65T>C c.4478T>C (p.Phe1493Ser) c.4550T>C (p.Phe1517Ser) | |
| 3 | g.38554485A>T | CA352144026 | SCN5A | c.4604T>A (p.Phe1535Tyr) c.4607T>A (p.Phe1536Tyr) c.4553T>A (p.Phe1518Tyr) c.4445T>A (p.Phe1482Tyr) n.65T>A c.4478T>A (p.Phe1493Tyr) c.4550T>A (p.Phe1517Tyr) | |
| 3 | g.38554486A>C | CA352144027 | SCN5A | c.4603T>G (p.Phe1535Val) c.4606T>G (p.Phe1536Val) c.4552T>G (p.Phe1518Val) c.4444T>G (p.Phe1482Val) n.64T>G c.4477T>G (p.Phe1493Val) c.4549T>G (p.Phe1517Val) | |
| 3 | g.38554486A>G | CA352144028 | SCN5A | c.4603T>C (p.Phe1535Leu) c.4606T>C (p.Phe1536Leu) c.4552T>C (p.Phe1518Leu) c.4444T>C (p.Phe1482Leu) n.64T>C c.4477T>C (p.Phe1493Leu) c.4549T>C (p.Phe1517Leu) | |
| 3 | g.38554486A>T | CA352144029 | SCN5A | c.4603T>A (p.Phe1535Ile) c.4606T>A (p.Phe1536Ile) c.4552T>A (p.Phe1518Ile) c.4444T>A (p.Phe1482Ile) n.64T>A c.4477T>A (p.Phe1493Ile) c.4549T>A (p.Phe1517Ile) | |
| 3 | g.38554487C>A | CA352144030 | SCN5A | c.4602G>T (p.Met1534Ile) c.4605G>T (p.Met1535Ile) c.4551G>T (p.Met1517Ile) c.4443G>T (p.Met1481Ile) n.63G>T c.4476G>T (p.Met1492Ile) c.4548G>T (p.Met1516Ile) | |
| 3 | g.38554487C>G | CA352144032 | SCN5A | c.4602G>C (p.Met1534Ile) c.4605G>C (p.Met1535Ile) c.4551G>C (p.Met1517Ile) c.4443G>C (p.Met1481Ile) n.63G>C c.4476G>C (p.Met1492Ile) c.4548G>C (p.Met1516Ile) | |
| 3 | g.38554487C>T | CA352144031 | SCN5A | c.4602G>A (p.Met1534Ile) c.4605G>A (p.Met1535Ile) c.4551G>A (p.Met1517Ile) c.4443G>A (p.Met1481Ile) n.63G>A c.4476G>A (p.Met1492Ile) c.4548G>A (p.Met1516Ile) | |
| 3 | g.38554488A>C | CA352144033 | SCN5A | c.4601T>G (p.Met1534Arg) c.4604T>G (p.Met1535Arg) c.4550T>G (p.Met1517Arg) c.4442T>G (p.Met1481Arg) n.62T>G c.4475T>G (p.Met1492Arg) c.4547T>G (p.Met1516Arg) | |
| 3 | g.38554488A>G | CA352144034 | SCN5A | c.4601T>C (p.Met1534Thr) c.4604T>C (p.Met1535Thr) c.4550T>C (p.Met1517Thr) c.4442T>C (p.Met1481Thr) n.62T>C c.4475T>C (p.Met1492Thr) c.4547T>C (p.Met1516Thr) | gnomAD v4 |
| 3 | g.38554488A>T | CA352144035 | SCN5A | c.4601T>A (p.Met1534Lys) c.4604T>A (p.Met1535Lys) c.4550T>A (p.Met1517Lys) c.4442T>A (p.Met1481Lys) n.62T>A c.4475T>A (p.Met1492Lys) c.4547T>A (p.Met1516Lys) | |
| 3 | g.38554489T>A | CA352144036 | SCN5A | c.4600A>T (p.Met1534Leu) c.4603A>T (p.Met1535Leu) c.4549A>T (p.Met1517Leu) c.4441A>T (p.Met1481Leu) n.61A>T c.4474A>T (p.Met1492Leu) c.4546A>T (p.Met1516Leu) | |
| 3 | g.38554489T>C | CA352144037 | SCN5A | c.4600A>G (p.Met1534Val) c.4603A>G (p.Met1535Val) c.4549A>G (p.Met1517Val) c.4441A>G (p.Met1481Val) n.61A>G c.4474A>G (p.Met1492Val) c.4546A>G (p.Met1516Val) | ClinVar dbSNP |
| 3 | g.38554489T>G | CA352144038 | SCN5A | c.4600A>C (p.Met1534Leu) c.4603A>C (p.Met1535Leu) c.4549A>C (p.Met1517Leu) c.4441A>C (p.Met1481Leu) n.61A>C c.4474A>C (p.Met1492Leu) c.4546A>C (p.Met1516Leu) | |
| 3 | g.38554490G>A | CA433134842 | SCN5A | c.4599C>T (p.Ile1533=) c.4602C>T (p.Ile1534=) c.4548C>T (p.Ile1516=) c.4440C>T (p.Ile1480=) n.60C>T c.4473C>T (p.Ile1491=) c.4545C>T (p.Ile1515=) | |
| 3 | g.38554490G>C | CA352144039 | SCN5A | c.4599C>G (p.Ile1533Met) c.4602C>G (p.Ile1534Met) c.4548C>G (p.Ile1516Met) c.4440C>G (p.Ile1480Met) n.60C>G c.4473C>G (p.Ile1491Met) c.4545C>G (p.Ile1515Met) | |
| 3 | g.38554490G>T | CA433134844 | SCN5A | c.4599C>A (p.Ile1533=) c.4602C>A (p.Ile1534=) c.4548C>A (p.Ile1516=) c.4440C>A (p.Ile1480=) n.60C>A c.4473C>A (p.Ile1491=) c.4545C>A (p.Ile1515=) | |
| 3 | g.38554491A= | CA1358563429 | SCN5A | c.4598T= (p.Ile1533=) c.4601T= (p.Ile1534=) c.4547T= (p.Ile1516=) c.4439T= (p.Ile1480=) n.59T= c.4472T= (p.Ile1491=) c.4544T= (p.Ile1515=) | |
| 3 | g.38554491A>C | CA352144040 | SCN5A | c.4598T>G (p.Ile1533Ser) c.4601T>G (p.Ile1534Ser) c.4547T>G (p.Ile1516Ser) c.4439T>G (p.Ile1480Ser) n.59T>G c.4472T>G (p.Ile1491Ser) c.4544T>G (p.Ile1515Ser) | ClinVar dbSNP |
| 3 | g.38554491A>G | CA352144041 | SCN5A | c.4598T>C (p.Ile1533Thr) c.4601T>C (p.Ile1534Thr) c.4547T>C (p.Ile1516Thr) c.4439T>C (p.Ile1480Thr) n.59T>C c.4472T>C (p.Ile1491Thr) c.4544T>C (p.Ile1515Thr) | gnomAD v4 |
| 3 | g.38554491A>T | CA352144042 | SCN5A | c.4598T>A (p.Ile1533Asn) c.4601T>A (p.Ile1534Asn) c.4547T>A (p.Ile1516Asn) c.4439T>A (p.Ile1480Asn) n.59T>A c.4472T>A (p.Ile1491Asn) c.4544T>A (p.Ile1515Asn) | gnomAD v4 |
| 3 | g.38554492T>A | CA352144045 | SCN5A | c.4597A>T (p.Ile1533Phe) c.4600A>T (p.Ile1534Phe) c.4546A>T (p.Ile1516Phe) c.4438A>T (p.Ile1480Phe) n.58A>T c.4471A>T (p.Ile1491Phe) c.4543A>T (p.Ile1515Phe) | |
| 3 | g.38554492T>C | CA352144044 | SCN5A | c.4597A>G (p.Ile1533Val) c.4600A>G (p.Ile1534Val) c.4546A>G (p.Ile1516Val) c.4438A>G (p.Ile1480Val) n.58A>G c.4471A>G (p.Ile1491Val) c.4543A>G (p.Ile1515Val) | |
| 3 | g.38554492T>G | CA352144043 | SCN5A | c.4597A>C (p.Ile1533Leu) c.4600A>C (p.Ile1534Leu) c.4546A>C (p.Ile1516Leu) c.4438A>C (p.Ile1480Leu) n.58A>C c.4471A>C (p.Ile1491Leu) c.4543A>C (p.Ile1515Leu) | |
| 3 | g.38554493G>A | CA433134851 | SCN5A | c.4596C>T (p.Thr1532=) c.4599C>T (p.Thr1533=) c.4545C>T (p.Thr1515=) c.4437C>T (p.Thr1479=) n.57C>T c.4470C>T (p.Thr1490=) c.4542C>T (p.Thr1514=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38554493G>C | CA433134854 | SCN5A | c.4596C>G (p.Thr1532=) c.4599C>G (p.Thr1533=) c.4545C>G (p.Thr1515=) c.4437C>G (p.Thr1479=) n.57C>G c.4470C>G (p.Thr1490=) c.4542C>G (p.Thr1514=) | |
| 3 | g.38554493G= | CA1358563431 | SCN5A | c.4596C= (p.Thr1532=) c.4599C= (p.Thr1533=) c.4545C= (p.Thr1515=) c.4437C= (p.Thr1479=) n.57C= c.4470C= (p.Thr1490=) c.4542C= (p.Thr1514=) | |
| 3 | g.38554493G>T | CA433134856 | SCN5A | c.4596C>A (p.Thr1532=) c.4599C>A (p.Thr1533=) c.4545C>A (p.Thr1515=) c.4437C>A (p.Thr1479=) n.57C>A c.4470C>A (p.Thr1490=) c.4542C>A (p.Thr1514=) | |
| 3 | g.38554494G>A | CA72942486 | SCN5A | c.4595C>T (p.Thr1532Ile) c.4598C>T (p.Thr1533Ile) c.4544C>T (p.Thr1515Ile) c.4436C>T (p.Thr1479Ile) n.56C>T c.4469C>T (p.Thr1490Ile) c.4541C>T (p.Thr1514Ile) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38554494G>C | CA352144046 | SCN5A | c.4595C>G (p.Thr1532Ser) c.4598C>G (p.Thr1533Ser) c.4544C>G (p.Thr1515Ser) c.4436C>G (p.Thr1479Ser) n.56C>G c.4469C>G (p.Thr1490Ser) c.4541C>G (p.Thr1514Ser) | |
| 3 | g.38554494G= | CA1358563433 | SCN5A | c.4595C= (p.Thr1532=) c.4598C= (p.Thr1533=) c.4544C= (p.Thr1515=) c.4436C= (p.Thr1479=) n.56C= c.4469C= (p.Thr1490=) c.4541C= (p.Thr1514=) | |
| 3 | g.38554494G>T | CA352144047 | SCN5A | c.4595C>A (p.Thr1532Asn) c.4598C>A (p.Thr1533Asn) c.4544C>A (p.Thr1515Asn) c.4436C>A (p.Thr1479Asn) n.56C>A c.4469C>A (p.Thr1490Asn) c.4541C>A (p.Thr1514Asn) | |
| 3 | g.38554495T>A | CA352144048 | SCN5A | c.4594A>T (p.Thr1532Ser) c.4597A>T (p.Thr1533Ser) c.4543A>T (p.Thr1515Ser) c.4435A>T (p.Thr1479Ser) n.55A>T c.4468A>T (p.Thr1490Ser) c.4540A>T (p.Thr1514Ser) | |
| 3 | g.38554495T>C | CA352144049 | SCN5A | c.4594A>G (p.Thr1532Ala) c.4597A>G (p.Thr1533Ala) c.4543A>G (p.Thr1515Ala) c.4435A>G (p.Thr1479Ala) n.55A>G c.4468A>G (p.Thr1490Ala) c.4540A>G (p.Thr1514Ala) | |
| 3 | g.38554495T>G | CA352144050 | SCN5A | c.4594A>C (p.Thr1532Pro) c.4597A>C (p.Thr1533Pro) c.4543A>C (p.Thr1515Pro) c.4435A>C (p.Thr1479Pro) n.55A>C c.4468A>C (p.Thr1490Pro) c.4540A>C (p.Thr1514Pro) | |
| 3 | g.38554496G>A | CA433134864 | SCN5A | c.4593C>T (p.Val1531=) c.4596C>T (p.Val1532=) c.4542C>T (p.Val1514=) c.4434C>T (p.Val1478=) n.54C>T c.4467C>T (p.Val1489=) c.4539C>T (p.Val1513=) | |
| 3 | g.38554496G>C | CA433134865 | SCN5A | c.4593C>G (p.Val1531=) c.4596C>G (p.Val1532=) c.4542C>G (p.Val1514=) c.4434C>G (p.Val1478=) n.54C>G c.4467C>G (p.Val1489=) c.4539C>G (p.Val1513=) | |
| 3 | g.38554496G>T | CA433134867 | SCN5A | c.4593C>A (p.Val1531=) c.4596C>A (p.Val1532=) c.4542C>A (p.Val1514=) c.4434C>A (p.Val1478=) n.54C>A c.4467C>A (p.Val1489=) c.4539C>A (p.Val1513=) | |
| 3 | g.38554497A= | CA1358563434 | SCN5A | c.4592T= (p.Val1531=) c.4595T= (p.Val1532=) c.4541T= (p.Val1514=) c.4433T= (p.Val1478=) n.53T= c.4466T= (p.Val1489=) c.4538T= (p.Val1513=) | |
| 3 | g.38554497A>C | CA352144052 | SCN5A | c.4592T>G (p.Val1531Gly) c.4595T>G (p.Val1532Gly) c.4541T>G (p.Val1514Gly) c.4433T>G (p.Val1478Gly) n.53T>G c.4466T>G (p.Val1489Gly) c.4538T>G (p.Val1513Gly) | |
| 3 | g.38554497A>G | CA72942487 | SCN5A | c.4592T>C (p.Val1531Ala) c.4595T>C (p.Val1532Ala) c.4541T>C (p.Val1514Ala) c.4433T>C (p.Val1478Ala) n.53T>C c.4466T>C (p.Val1489Ala) c.4538T>C (p.Val1513Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38554497A>T | CA352144051 | SCN5A | c.4592T>A (p.Val1531Asp) c.4595T>A (p.Val1532Asp) c.4541T>A (p.Val1514Asp) c.4433T>A (p.Val1478Asp) n.53T>A c.4466T>A (p.Val1489Asp) c.4538T>A (p.Val1513Asp) | |
| 3 | g.38554498C>A | CA018456 | SCN5A | c.4591G>T (p.Val1531Phe) c.4594G>T (p.Val1532Phe) c.4540G>T (p.Val1514Phe) c.4432G>T (p.Val1478Phe) n.52G>T c.4465G>T (p.Val1489Phe) c.4537G>T (p.Val1513Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38554498C= | CA1358563437 | SCN5A | c.4591G= (p.Val1531=) c.4594G= (p.Val1532=) c.4540G= (p.Val1514=) c.4432G= (p.Val1478=) n.52G= c.4465G= (p.Val1489=) c.4537G= (p.Val1513=) | |
| 3 | g.38554498C>G | CA352144053 | SCN5A | c.4591G>C (p.Val1531Leu) c.4594G>C (p.Val1532Leu) c.4540G>C (p.Val1514Leu) c.4432G>C (p.Val1478Leu) n.52G>C c.4465G>C (p.Val1489Leu) c.4537G>C (p.Val1513Leu) | |
| 3 | g.38554498C>T | CA018450 | SCN5A | c.4591G>A (p.Val1531Ile) c.4594G>A (p.Val1532Ile) c.4540G>A (p.Val1514Ile) c.4432G>A (p.Val1478Ile) n.52G>A c.4465G>A (p.Val1489Ile) c.4537G>A (p.Val1513Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38554499G>A | CA063451 | SCN5A | c.4590C>T (p.Asp1530=) c.4593C>T (p.Asp1531=) c.4539C>T (p.Asp1513=) c.4431C>T (p.Asp1477=) n.51C>T c.4464C>T (p.Asp1488=) c.4536C>T (p.Asp1512=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.38554499G>C | CA352144054 | SCN5A | c.4590C>G (p.Asp1530Glu) c.4593C>G (p.Asp1531Glu) c.4539C>G (p.Asp1513Glu) c.4431C>G (p.Asp1477Glu) n.51C>G c.4464C>G (p.Asp1488Glu) c.4536C>G (p.Asp1512Glu) | |
| 3 | g.38554499G= | CA1358563439 | SCN5A | c.4590C= (p.Asp1530=) c.4593C= (p.Asp1531=) c.4539C= (p.Asp1513=) c.4431C= (p.Asp1477=) n.51C= c.4464C= (p.Asp1488=) c.4536C= (p.Asp1512=) | |
| 3 | g.38554499G>T | CA352144055 | SCN5A | c.4590C>A (p.Asp1530Glu) c.4593C>A (p.Asp1531Glu) c.4539C>A (p.Asp1513Glu) c.4431C>A (p.Asp1477Glu) n.51C>A c.4464C>A (p.Asp1488Glu) c.4536C>A (p.Asp1512Glu) | |
| 3 | g.38554500T>A | CA352144056 | SCN5A | c.4589A>T (p.Asp1530Val) c.4592A>T (p.Asp1531Val) c.4538A>T (p.Asp1513Val) c.4430A>T (p.Asp1477Val) n.50A>T c.4463A>T (p.Asp1488Val) c.4535A>T (p.Asp1512Val) | |
| 3 | g.38554500T>C | CA352144058 | SCN5A | c.4589A>G (p.Asp1530Gly) c.4592A>G (p.Asp1531Gly) c.4538A>G (p.Asp1513Gly) c.4430A>G (p.Asp1477Gly) n.50A>G c.4463A>G (p.Asp1488Gly) c.4535A>G (p.Asp1512Gly) | |
| 3 | g.38554500T>G | CA352144057 | SCN5A | c.4589A>C (p.Asp1530Ala) c.4592A>C (p.Asp1531Ala) c.4538A>C (p.Asp1513Ala) c.4430A>C (p.Asp1477Ala) n.50A>C c.4463A>C (p.Asp1488Ala) c.4535A>C (p.Asp1512Ala) | |
| 3 | g.38554501C>A | CA352144059 | SCN5A | c.4588G>T (p.Asp1530Tyr) c.4591G>T (p.Asp1531Tyr) c.4537G>T (p.Asp1513Tyr) c.4429G>T (p.Asp1477Tyr) n.49G>T c.4462G>T (p.Asp1488Tyr) c.4534G>T (p.Asp1512Tyr) | |
| 3 | g.38554501C>G | CA352144060 | SCN5A | c.4588G>C (p.Asp1530His) c.4591G>C (p.Asp1531His) c.4537G>C (p.Asp1513His) c.4429G>C (p.Asp1477His) n.49G>C c.4462G>C (p.Asp1488His) c.4534G>C (p.Asp1512His) | |
| 3 | g.38554501C>T | CA352144061 | SCN5A | c.4588G>A (p.Asp1530Asn) c.4591G>A (p.Asp1531Asn) c.4537G>A (p.Asp1513Asn) c.4429G>A (p.Asp1477Asn) n.49G>A c.4462G>A (p.Asp1488Asn) c.4534G>A (p.Asp1512Asn) | |
| 3 | g.38554502A= | CA1358563441 | SCN5A | c.4587T= (p.Phe1529=) c.4590T= (p.Phe1530=) c.4536T= (p.Phe1512=) c.4428T= (p.Phe1476=) n.48T= c.4461T= (p.Phe1487=) c.4533T= (p.Phe1511=) | |
| 3 | g.38554502A>C | CA352144062 | SCN5A | c.4587T>G (p.Phe1529Leu) c.4590T>G (p.Phe1530Leu) c.4536T>G (p.Phe1512Leu) c.4428T>G (p.Phe1476Leu) n.48T>G c.4461T>G (p.Phe1487Leu) c.4533T>G (p.Phe1511Leu) | |
| 3 | g.38554502A>G | CA433135056 | SCN5A | c.4587T>C (p.Phe1529=) c.4590T>C (p.Phe1530=) c.4536T>C (p.Phe1512=) c.4428T>C (p.Phe1476=) n.48T>C c.4461T>C (p.Phe1487=) c.4533T>C (p.Phe1511=) | dbSNP |
| 3 | g.38554502A>T | CA352144063 | SCN5A | c.4587T>A (p.Phe1529Leu) c.4590T>A (p.Phe1530Leu) c.4536T>A (p.Phe1512Leu) c.4428T>A (p.Phe1476Leu) n.48T>A c.4461T>A (p.Phe1487Leu) c.4533T>A (p.Phe1511Leu) | |
| 3 | g.38554503A>C | CA352144064 | SCN5A | c.4586T>G (p.Phe1529Cys) c.4589T>G (p.Phe1530Cys) c.4535T>G (p.Phe1512Cys) c.4427T>G (p.Phe1476Cys) n.47T>G c.4460T>G (p.Phe1487Cys) c.4532T>G (p.Phe1511Cys) | |
| 3 | g.38554503A>G | CA352144065 | SCN5A | c.4586T>C (p.Phe1529Ser) c.4589T>C (p.Phe1530Ser) c.4535T>C (p.Phe1512Ser) c.4427T>C (p.Phe1476Ser) n.47T>C c.4460T>C (p.Phe1487Ser) c.4532T>C (p.Phe1511Ser) | |
| 3 | g.38554503A>T | CA352144066 | SCN5A | c.4586T>A (p.Phe1529Tyr) c.4589T>A (p.Phe1530Tyr) c.4535T>A (p.Phe1512Tyr) c.4427T>A (p.Phe1476Tyr) n.47T>A c.4460T>A (p.Phe1487Tyr) c.4532T>A (p.Phe1511Tyr) | |
| 3 | g.38554504A>C | CA352144067 | SCN5A | c.4585T>G (p.Phe1529Val) c.4588T>G (p.Phe1530Val) c.4534T>G (p.Phe1512Val) c.4426T>G (p.Phe1476Val) n.46T>G c.4459T>G (p.Phe1487Val) c.4531T>G (p.Phe1511Val) | |
| 3 | g.38554504A>G | CA352144068 | SCN5A | c.4585T>C (p.Phe1529Leu) c.4588T>C (p.Phe1530Leu) c.4534T>C (p.Phe1512Leu) c.4426T>C (p.Phe1476Leu) n.46T>C c.4459T>C (p.Phe1487Leu) c.4531T>C (p.Phe1511Leu) | |
| 3 | g.38554504A>T | CA352144069 | SCN5A | c.4585T>A (p.Phe1529Ile) c.4588T>A (p.Phe1530Ile) c.4534T>A (p.Phe1512Ile) c.4426T>A (p.Phe1476Ile) n.46T>A c.4459T>A (p.Phe1487Ile) c.4531T>A (p.Phe1511Ile) | |
| 3 | g.38554505G>A | CA433135066 | SCN5A | c.4584C>T (p.Ala1528=) c.4587C>T (p.Ala1529=) c.4533C>T (p.Ala1511=) c.4425C>T (p.Ala1475=) n.45C>T c.4458C>T (p.Ala1486=) c.4530C>T (p.Ala1510=) | |
| 3 | g.38554505G>C | CA433135067 | SCN5A | c.4584C>G (p.Ala1528=) c.4587C>G (p.Ala1529=) c.4533C>G (p.Ala1511=) c.4425C>G (p.Ala1475=) n.45C>G c.4458C>G (p.Ala1486=) c.4530C>G (p.Ala1510=) | |
| 3 | g.38554505G>T | CA433135069 | SCN5A | c.4584C>A (p.Ala1528=) c.4587C>A (p.Ala1529=) c.4533C>A (p.Ala1511=) c.4425C>A (p.Ala1475=) n.45C>A c.4458C>A (p.Ala1486=) c.4530C>A (p.Ala1510=) | |
| 3 | g.38554506G>A | CA063444 | SCN5A | c.4583C>T (p.Ala1528Val) c.4586C>T (p.Ala1529Val) c.4532C>T (p.Ala1511Val) c.4424C>T (p.Ala1475Val) n.44C>T c.4457C>T (p.Ala1486Val) c.4529C>T (p.Ala1510Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38554506G>C | CA352144071 | SCN5A | c.4583C>G (p.Ala1528Gly) c.4586C>G (p.Ala1529Gly) c.4532C>G (p.Ala1511Gly) c.4424C>G (p.Ala1475Gly) n.44C>G c.4457C>G (p.Ala1486Gly) c.4529C>G (p.Ala1510Gly) | gnomAD v4 |
| 3 | g.38554506G= | CA1358563443 | SCN5A | c.4583C= (p.Ala1528=) c.4586C= (p.Ala1529=) c.4532C= (p.Ala1511=) c.4424C= (p.Ala1475=) n.44C= c.4457C= (p.Ala1486=) c.4529C= (p.Ala1510=) | |
| 3 | g.38554506G>T | CA352144070 | SCN5A | c.4583C>A (p.Ala1528Asp) c.4586C>A (p.Ala1529Asp) c.4532C>A (p.Ala1511Asp) c.4424C>A (p.Ala1475Asp) n.44C>A c.4457C>A (p.Ala1486Asp) c.4529C>A (p.Ala1510Asp) | ClinVar dbSNP |