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