Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.38551394T>A | CA352142851 | SCN5A | c.4975A>T (p.Ile1659Phe) c.4978A>T (p.Ile1660Phe) c.4924A>T (p.Ile1642Phe) c.4816A>T (p.Ile1606Phe) c.4879A>T (p.Ile1627Phe) c.4849A>T (p.Ile1617Phe) c.4921A>T (p.Ile1641Phe) | |
3 | g.38551394T>C | CA018806 | SCN5A | c.4975A>G (p.Ile1659Val) c.4978A>G (p.Ile1660Val) c.4924A>G (p.Ile1642Val) c.4816A>G (p.Ile1606Val) c.4879A>G (p.Ile1627Val) c.4849A>G (p.Ile1617Val) c.4921A>G (p.Ile1641Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38551394T>G | CA352142852 | SCN5A | c.4975A>C (p.Ile1659Leu) c.4978A>C (p.Ile1660Leu) c.4924A>C (p.Ile1642Leu) c.4816A>C (p.Ile1606Leu) c.4879A>C (p.Ile1627Leu) c.4849A>C (p.Ile1617Leu) c.4921A>C (p.Ile1641Leu) | |
3 | g.38551394T= | CA1358557973 | SCN5A | c.4975A= (p.Ile1659=) c.4978A= (p.Ile1660=) c.4924A= (p.Ile1642=) c.4816A= (p.Ile1606=) c.4879A= (p.Ile1627=) c.4849A= (p.Ile1617=) c.4921A= (p.Ile1641=) | |
3 | g.38551395G>A | CA433332205 | SCN5A | c.4974C>T (p.Asn1658=) c.4977C>T (p.Asn1659=) c.4923C>T (p.Asn1641=) c.4815C>T (p.Asn1605=) c.4878C>T (p.Asn1626=) c.4848C>T (p.Asn1616=) c.4920C>T (p.Asn1640=) | |
3 | g.38551395G>C | CA352142853 | SCN5A | c.4974C>G (p.Asn1658Lys) c.4977C>G (p.Asn1659Lys) c.4923C>G (p.Asn1641Lys) c.4815C>G (p.Asn1605Lys) c.4878C>G (p.Asn1626Lys) c.4848C>G (p.Asn1616Lys) c.4920C>G (p.Asn1640Lys) | |
3 | g.38551395G>T | CA352142854 | SCN5A | c.4974C>A (p.Asn1658Lys) c.4977C>A (p.Asn1659Lys) c.4923C>A (p.Asn1641Lys) c.4815C>A (p.Asn1605Lys) c.4878C>A (p.Asn1626Lys) c.4848C>A (p.Asn1616Lys) c.4920C>A (p.Asn1640Lys) | |
3 | g.38551396T>A | CA352142855 | SCN5A | c.4973A>T (p.Asn1658Ile) c.4976A>T (p.Asn1659Ile) c.4922A>T (p.Asn1641Ile) c.4814A>T (p.Asn1605Ile) c.4877A>T (p.Asn1626Ile) c.4847A>T (p.Asn1616Ile) c.4919A>T (p.Asn1640Ile) | |
3 | g.38551396T>C | CA352142857 | SCN5A | c.4973A>G (p.Asn1658Ser) c.4976A>G (p.Asn1659Ser) c.4922A>G (p.Asn1641Ser) c.4814A>G (p.Asn1605Ser) c.4877A>G (p.Asn1626Ser) c.4847A>G (p.Asn1616Ser) c.4919A>G (p.Asn1640Ser) | ClinVar dbSNP |
3 | g.38551396T>G | CA352142856 | SCN5A | c.4973A>C (p.Asn1658Thr) c.4976A>C (p.Asn1659Thr) c.4922A>C (p.Asn1641Thr) c.4814A>C (p.Asn1605Thr) c.4877A>C (p.Asn1626Thr) c.4847A>C (p.Asn1616Thr) c.4919A>C (p.Asn1640Thr) | |
3 | g.38551396T= | CA1358557979 | SCN5A | c.4973A= (p.Asn1658=) c.4976A= (p.Asn1659=) c.4922A= (p.Asn1641=) c.4814A= (p.Asn1605=) c.4877A= (p.Asn1626=) c.4847A= (p.Asn1616=) c.4919A= (p.Asn1640=) | |
3 | g.38551397T>A | CA352142858 | SCN5A | c.4972A>T (p.Asn1658Tyr) c.4975A>T (p.Asn1659Tyr) c.4921A>T (p.Asn1641Tyr) c.4813A>T (p.Asn1605Tyr) c.4876A>T (p.Asn1626Tyr) c.4846A>T (p.Asn1616Tyr) c.4918A>T (p.Asn1640Tyr) | |
3 | g.38551397T>C | CA72938241 | SCN5A | c.4972A>G (p.Asn1658Asp) c.4975A>G (p.Asn1659Asp) c.4921A>G (p.Asn1641Asp) c.4813A>G (p.Asn1605Asp) c.4876A>G (p.Asn1626Asp) c.4846A>G (p.Asn1616Asp) c.4918A>G (p.Asn1640Asp) | dbSNP |
3 | g.38551397T>G | CA352142859 | SCN5A | c.4972A>C (p.Asn1658His) c.4975A>C (p.Asn1659His) c.4921A>C (p.Asn1641His) c.4813A>C (p.Asn1605His) c.4876A>C (p.Asn1626His) c.4846A>C (p.Asn1616His) c.4918A>C (p.Asn1640His) | |
3 | g.38551397T= | CA1358557982 | SCN5A | c.4972A= (p.Asn1658=) c.4975A= (p.Asn1659=) c.4921A= (p.Asn1641=) c.4813A= (p.Asn1605=) c.4876A= (p.Asn1626=) c.4846A= (p.Asn1616=) c.4918A= (p.Asn1640=) | |
3 | g.38551398G>A | CA433332211 | SCN5A | c.4971C>T (p.Phe1657=) c.4974C>T (p.Phe1658=) c.4920C>T (p.Phe1640=) c.4812C>T (p.Phe1604=) c.4875C>T (p.Phe1625=) c.4845C>T (p.Phe1615=) c.4917C>T (p.Phe1639=) | ClinVar dbSNP |
3 | g.38551398G>C | CA352142860 | SCN5A | c.4971C>G (p.Phe1657Leu) c.4974C>G (p.Phe1658Leu) c.4920C>G (p.Phe1640Leu) c.4812C>G (p.Phe1604Leu) c.4875C>G (p.Phe1625Leu) c.4845C>G (p.Phe1615Leu) c.4917C>G (p.Phe1639Leu) | ClinVar |
3 | g.38551398G= | CA1358557984 | SCN5A | c.4971C= (p.Phe1657=) c.4974C= (p.Phe1658=) c.4920C= (p.Phe1640=) c.4812C= (p.Phe1604=) c.4875C= (p.Phe1625=) c.4845C= (p.Phe1615=) c.4917C= (p.Phe1639=) | |
3 | g.38551398G>T | CA352142861 | SCN5A | c.4971C>A (p.Phe1657Leu) c.4974C>A (p.Phe1658Leu) c.4920C>A (p.Phe1640Leu) c.4812C>A (p.Phe1604Leu) c.4875C>A (p.Phe1625Leu) c.4845C>A (p.Phe1615Leu) c.4917C>A (p.Phe1639Leu) | |
3 | g.38551399A>C | CA352142862 | SCN5A | c.4970T>G (p.Phe1657Cys) c.4973T>G (p.Phe1658Cys) c.4919T>G (p.Phe1640Cys) c.4811T>G (p.Phe1604Cys) c.4874T>G (p.Phe1625Cys) c.4844T>G (p.Phe1615Cys) c.4916T>G (p.Phe1639Cys) | |
3 | g.38551399A>G | CA352142863 | SCN5A | c.4970T>C (p.Phe1657Ser) c.4973T>C (p.Phe1658Ser) c.4919T>C (p.Phe1640Ser) c.4811T>C (p.Phe1604Ser) c.4874T>C (p.Phe1625Ser) c.4844T>C (p.Phe1615Ser) c.4916T>C (p.Phe1639Ser) | |
3 | g.38551399A>T | CA352142864 | SCN5A | c.4970T>A (p.Phe1657Tyr) c.4973T>A (p.Phe1658Tyr) c.4919T>A (p.Phe1640Tyr) c.4811T>A (p.Phe1604Tyr) c.4874T>A (p.Phe1625Tyr) c.4844T>A (p.Phe1615Tyr) c.4916T>A (p.Phe1639Tyr) | COSMIC |
3 | g.38551400A>C | CA352142865 | SCN5A | c.4969T>G (p.Phe1657Val) c.4972T>G (p.Phe1658Val) c.4918T>G (p.Phe1640Val) c.4810T>G (p.Phe1604Val) c.4873T>G (p.Phe1625Val) c.4843T>G (p.Phe1615Val) c.4915T>G (p.Phe1639Val) | |
3 | g.38551400A>G | CA352142866 | SCN5A | c.4969T>C (p.Phe1657Leu) c.4972T>C (p.Phe1658Leu) c.4918T>C (p.Phe1640Leu) c.4810T>C (p.Phe1604Leu) c.4873T>C (p.Phe1625Leu) c.4843T>C (p.Phe1615Leu) c.4915T>C (p.Phe1639Leu) | |
3 | g.38551400A>T | CA352142867 | SCN5A | c.4969T>A (p.Phe1657Ile) c.4972T>A (p.Phe1658Ile) c.4918T>A (p.Phe1640Ile) c.4810T>A (p.Phe1604Ile) c.4873T>A (p.Phe1625Ile) c.4843T>A (p.Phe1615Ile) c.4915T>A (p.Phe1639Ile) | |
3 | g.38551401G>A | CA433332223 | SCN5A | c.4968C>T (p.Leu1656=) c.4971C>T (p.Leu1657=) c.4917C>T (p.Leu1639=) c.4809C>T (p.Leu1603=) c.4872C>T (p.Leu1624=) c.4842C>T (p.Leu1614=) c.4914C>T (p.Leu1638=) | ClinVar dbSNP |
3 | g.38551401G>C | CA433332224 | SCN5A | c.4968C>G (p.Leu1656=) c.4971C>G (p.Leu1657=) c.4917C>G (p.Leu1639=) c.4809C>G (p.Leu1603=) c.4872C>G (p.Leu1624=) c.4842C>G (p.Leu1614=) c.4914C>G (p.Leu1638=) | |
3 | g.38551401G= | CA1358557986 | SCN5A | c.4968C= (p.Leu1656=) c.4971C= (p.Leu1657=) c.4917C= (p.Leu1639=) c.4809C= (p.Leu1603=) c.4872C= (p.Leu1624=) c.4842C= (p.Leu1614=) c.4914C= (p.Leu1638=) | |
3 | g.38551401G>T | CA064033 | SCN5A | c.4968C>A (p.Leu1656=) c.4971C>A (p.Leu1657=) c.4917C>A (p.Leu1639=) c.4809C>A (p.Leu1603=) c.4872C>A (p.Leu1624=) c.4842C>A (p.Leu1614=) c.4914C>A (p.Leu1638=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.38551402A>C | CA352142870 | SCN5A | c.4967T>G (p.Leu1656Arg) c.4970T>G (p.Leu1657Arg) c.4916T>G (p.Leu1639Arg) c.4808T>G (p.Leu1603Arg) c.4871T>G (p.Leu1624Arg) c.4841T>G (p.Leu1614Arg) c.4913T>G (p.Leu1638Arg) | |
3 | g.38551402A>G | CA352142868 | SCN5A | c.4967T>C (p.Leu1656Pro) c.4970T>C (p.Leu1657Pro) c.4916T>C (p.Leu1639Pro) c.4808T>C (p.Leu1603Pro) c.4871T>C (p.Leu1624Pro) c.4841T>C (p.Leu1614Pro) c.4913T>C (p.Leu1638Pro) | |
3 | g.38551402A>T | CA352142869 | SCN5A | c.4967T>A (p.Leu1656His) c.4970T>A (p.Leu1657His) c.4916T>A (p.Leu1639His) c.4808T>A (p.Leu1603His) c.4871T>A (p.Leu1624His) c.4841T>A (p.Leu1614His) c.4913T>A (p.Leu1638His) | |
3 | g.38551403G>A | CA352142871 | SCN5A | c.4966C>T (p.Leu1656Phe) c.4969C>T (p.Leu1657Phe) c.4915C>T (p.Leu1639Phe) c.4807C>T (p.Leu1603Phe) c.4870C>T (p.Leu1624Phe) c.4840C>T (p.Leu1614Phe) c.4912C>T (p.Leu1638Phe) | |
3 | g.38551403G>C | CA352142872 | SCN5A | c.4966C>G (p.Leu1656Val) c.4969C>G (p.Leu1657Val) c.4915C>G (p.Leu1639Val) c.4807C>G (p.Leu1603Val) c.4870C>G (p.Leu1624Val) c.4840C>G (p.Leu1614Val) c.4912C>G (p.Leu1638Val) | |
3 | g.38551403G>T | CA352142873 | SCN5A | c.4966C>A (p.Leu1656Ile) c.4969C>A (p.Leu1657Ile) c.4915C>A (p.Leu1639Ile) c.4807C>A (p.Leu1603Ile) c.4870C>A (p.Leu1624Ile) c.4840C>A (p.Leu1614Ile) c.4912C>A (p.Leu1638Ile) | COSMIC COSMIC COSMIC |
3 | g.38551404G>A | CA433332234 | SCN5A | c.4965C>T (p.Ala1655=) c.4968C>T (p.Ala1656=) c.4914C>T (p.Ala1638=) c.4806C>T (p.Ala1602=) c.4869C>T (p.Ala1623=) c.4839C>T (p.Ala1613=) c.4911C>T (p.Ala1637=) | ClinVar gnomAD v4 |
3 | g.38551404G>C | CA433332236 | SCN5A | c.4965C>G (p.Ala1655=) c.4968C>G (p.Ala1656=) c.4914C>G (p.Ala1638=) c.4806C>G (p.Ala1602=) c.4869C>G (p.Ala1623=) c.4839C>G (p.Ala1613=) c.4911C>G (p.Ala1637=) | ClinVar |
3 | g.38551404G= | CA1358557990 | SCN5A | c.4965C= (p.Ala1655=) c.4968C= (p.Ala1656=) c.4914C= (p.Ala1638=) c.4806C= (p.Ala1602=) c.4869C= (p.Ala1623=) c.4839C= (p.Ala1613=) c.4911C= (p.Ala1637=) | |
3 | g.38551404G>T | CA064018 | SCN5A | c.4965C>A (p.Ala1655=) c.4968C>A (p.Ala1656=) c.4914C>A (p.Ala1638=) c.4806C>A (p.Ala1602=) c.4869C>A (p.Ala1623=) c.4839C>A (p.Ala1613=) c.4911C>A (p.Ala1637=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38551405G>A | CA352142876 | SCN5A | c.4964C>T (p.Ala1655Val) c.4967C>T (p.Ala1656Val) c.4913C>T (p.Ala1638Val) c.4805C>T (p.Ala1602Val) c.4868C>T (p.Ala1623Val) c.4838C>T (p.Ala1613Val) c.4910C>T (p.Ala1637Val) | gnomAD v3 gnomAD v4 |
3 | g.38551405G>C | CA352142875 | SCN5A | c.4964C>G (p.Ala1655Gly) c.4967C>G (p.Ala1656Gly) c.4913C>G (p.Ala1638Gly) c.4805C>G (p.Ala1602Gly) c.4868C>G (p.Ala1623Gly) c.4838C>G (p.Ala1613Gly) c.4910C>G (p.Ala1637Gly) | |
3 | g.38551405G>T | CA352142874 | SCN5A | c.4964C>A (p.Ala1655Asp) c.4967C>A (p.Ala1656Asp) c.4913C>A (p.Ala1638Asp) c.4805C>A (p.Ala1602Asp) c.4868C>A (p.Ala1623Asp) c.4838C>A (p.Ala1613Asp) c.4910C>A (p.Ala1637Asp) | |
3 | g.38551406C>A | CA352142877 | SCN5A | c.4963G>T (p.Ala1655Ser) c.4966G>T (p.Ala1656Ser) c.4912G>T (p.Ala1638Ser) c.4804G>T (p.Ala1602Ser) c.4867G>T (p.Ala1623Ser) c.4837G>T (p.Ala1613Ser) c.4909G>T (p.Ala1637Ser) | |
3 | g.38551406C>G | CA352142878 | SCN5A | c.4963G>C (p.Ala1655Pro) c.4966G>C (p.Ala1656Pro) c.4912G>C (p.Ala1638Pro) c.4804G>C (p.Ala1602Pro) c.4867G>C (p.Ala1623Pro) c.4837G>C (p.Ala1613Pro) c.4909G>C (p.Ala1637Pro) | |
3 | g.38551406C>T | CA352142879 | SCN5A | c.4963G>A (p.Ala1655Thr) c.4966G>A (p.Ala1656Thr) c.4912G>A (p.Ala1638Thr) c.4804G>A (p.Ala1602Thr) c.4867G>A (p.Ala1623Thr) c.4837G>A (p.Ala1613Thr) c.4909G>A (p.Ala1637Thr) | |
3 | g.38551407A>C | CA433332252 | SCN5A | c.4962T>G (p.Pro1654=) c.4965T>G (p.Pro1655=) c.4911T>G (p.Pro1637=) c.4803T>G (p.Pro1601=) c.4866T>G (p.Pro1622=) c.4836T>G (p.Pro1612=) c.4908T>G (p.Pro1636=) | |
3 | g.38551407A>G | CA433332250 | SCN5A | c.4962T>C (p.Pro1654=) c.4965T>C (p.Pro1655=) c.4911T>C (p.Pro1637=) c.4803T>C (p.Pro1601=) c.4866T>C (p.Pro1622=) c.4836T>C (p.Pro1612=) c.4908T>C (p.Pro1636=) | ClinVar dbSNP |
3 | g.38551407A>T | CA433332248 | SCN5A | c.4962T>A (p.Pro1654=) c.4965T>A (p.Pro1655=) c.4911T>A (p.Pro1637=) c.4803T>A (p.Pro1601=) c.4866T>A (p.Pro1622=) c.4836T>A (p.Pro1612=) c.4908T>A (p.Pro1636=) | |
3 | g.38551408G>A | CA352142880 | SCN5A | c.4961C>T (p.Pro1654Leu) c.4964C>T (p.Pro1655Leu) c.4910C>T (p.Pro1637Leu) c.4802C>T (p.Pro1601Leu) c.4865C>T (p.Pro1622Leu) c.4835C>T (p.Pro1612Leu) c.4907C>T (p.Pro1636Leu) | |
3 | g.38551408G>C | CA352142881 | SCN5A | c.4961C>G (p.Pro1654Arg) c.4964C>G (p.Pro1655Arg) c.4910C>G (p.Pro1637Arg) c.4802C>G (p.Pro1601Arg) c.4865C>G (p.Pro1622Arg) c.4835C>G (p.Pro1612Arg) c.4907C>G (p.Pro1636Arg) |