| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.38551347G>A | CA433332102 | SCN5A | c.5022C>T (p.Gly1674=) c.5025C>T (p.Gly1675=) c.4971C>T (p.Gly1657=) c.4863C>T (p.Gly1621=) c.4926C>T (p.Gly1642=) c.4896C>T (p.Gly1632=) c.4968C>T (p.Gly1656=) | dbSNP gnomAD v2 |
| 3 | g.38551347G>C | CA433332103 | SCN5A | c.5022C>G (p.Gly1674=) c.5025C>G (p.Gly1675=) c.4971C>G (p.Gly1657=) c.4863C>G (p.Gly1621=) c.4926C>G (p.Gly1642=) c.4896C>G (p.Gly1632=) c.4968C>G (p.Gly1656=) | |
| 3 | g.38551347G= | CA1358557889 | SCN5A | c.5022C= (p.Gly1674=) c.5025C= (p.Gly1675=) c.4971C= (p.Gly1657=) c.4863C= (p.Gly1621=) c.4926C= (p.Gly1642=) c.4896C= (p.Gly1632=) c.4968C= (p.Gly1656=) | |
| 3 | g.38551347G>T | CA433332104 | SCN5A | c.5022C>A (p.Gly1674=) c.5025C>A (p.Gly1675=) c.4971C>A (p.Gly1657=) c.4863C>A (p.Gly1621=) c.4926C>A (p.Gly1642=) c.4896C>A (p.Gly1632=) c.4968C>A (p.Gly1656=) | |
| 3 | g.38551348C>A | CA352142702 | SCN5A | c.5021G>T (p.Gly1674Val) c.5024G>T (p.Gly1675Val) c.4970G>T (p.Gly1657Val) c.4862G>T (p.Gly1621Val) c.4925G>T (p.Gly1642Val) c.4895G>T (p.Gly1632Val) c.4967G>T (p.Gly1656Val) | |
| 3 | g.38551348C>G | CA352142704 | SCN5A | c.5021G>C (p.Gly1674Ala) c.5024G>C (p.Gly1675Ala) c.4970G>C (p.Gly1657Ala) c.4862G>C (p.Gly1621Ala) c.4925G>C (p.Gly1642Ala) c.4895G>C (p.Gly1632Ala) c.4967G>C (p.Gly1656Ala) | |
| 3 | g.38551348C>T | CA352142706 | SCN5A | c.5021G>A (p.Gly1674Asp) c.5024G>A (p.Gly1675Asp) c.4970G>A (p.Gly1657Asp) c.4862G>A (p.Gly1621Asp) c.4925G>A (p.Gly1642Asp) c.4895G>A (p.Gly1632Asp) c.4967G>A (p.Gly1656Asp) | |
| 3 | g.38551349C>A | CA352142708 | SCN5A | c.5020G>T (p.Gly1674Cys) c.5023G>T (p.Gly1675Cys) c.4969G>T (p.Gly1657Cys) c.4861G>T (p.Gly1621Cys) c.4924G>T (p.Gly1642Cys) c.4894G>T (p.Gly1632Cys) c.4966G>T (p.Gly1656Cys) | |
| 3 | g.38551349C>G | CA352142710 | SCN5A | c.5020G>C (p.Gly1674Arg) c.5023G>C (p.Gly1675Arg) c.4969G>C (p.Gly1657Arg) c.4861G>C (p.Gly1621Arg) c.4924G>C (p.Gly1642Arg) c.4894G>C (p.Gly1632Arg) c.4966G>C (p.Gly1656Arg) | |
| 3 | g.38551349C>T | CA352142712 | SCN5A | c.5020G>A (p.Gly1674Ser) c.5023G>A (p.Gly1675Ser) c.4969G>A (p.Gly1657Ser) c.4861G>A (p.Gly1621Ser) c.4924G>A (p.Gly1642Ser) c.4894G>A (p.Gly1632Ser) c.4966G>A (p.Gly1656Ser) | |
| 3 | g.38551350A= | CA1358557894 | SCN5A | c.5019T= (p.Phe1673=) c.5022T= (p.Phe1674=) c.4968T= (p.Phe1656=) c.4860T= (p.Phe1620=) c.4923T= (p.Phe1641=) c.4893T= (p.Phe1631=) c.4965T= (p.Phe1655=) | |
| 3 | g.38551350A>C | CA352142714 | SCN5A | c.5019T>G (p.Phe1673Leu) c.5022T>G (p.Phe1674Leu) c.4968T>G (p.Phe1656Leu) c.4860T>G (p.Phe1620Leu) c.4923T>G (p.Phe1641Leu) c.4893T>G (p.Phe1631Leu) c.4965T>G (p.Phe1655Leu) | |
| 3 | g.38551350A>G | CA433332109 | SCN5A | c.5019T>C (p.Phe1673=) c.5022T>C (p.Phe1674=) c.4968T>C (p.Phe1656=) c.4860T>C (p.Phe1620=) c.4923T>C (p.Phe1641=) c.4893T>C (p.Phe1631=) c.4965T>C (p.Phe1655=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38551350A>T | CA352142715 | SCN5A | c.5019T>A (p.Phe1673Leu) c.5022T>A (p.Phe1674Leu) c.4968T>A (p.Phe1656Leu) c.4860T>A (p.Phe1620Leu) c.4923T>A (p.Phe1641Leu) c.4893T>A (p.Phe1631Leu) c.4965T>A (p.Phe1655Leu) | |
| 3 | g.38551351A>C | CA352142718 | SCN5A | c.5018T>G (p.Phe1673Cys) c.5021T>G (p.Phe1674Cys) c.4967T>G (p.Phe1656Cys) c.4859T>G (p.Phe1620Cys) c.4922T>G (p.Phe1641Cys) c.4892T>G (p.Phe1631Cys) c.4964T>G (p.Phe1655Cys) | |
| 3 | g.38551351A>G | CA352142721 | SCN5A | c.5018T>C (p.Phe1673Ser) c.5021T>C (p.Phe1674Ser) c.4967T>C (p.Phe1656Ser) c.4859T>C (p.Phe1620Ser) c.4922T>C (p.Phe1641Ser) c.4892T>C (p.Phe1631Ser) c.4964T>C (p.Phe1655Ser) | gnomAD v4 |
| 3 | g.38551351A>T | CA352142720 | SCN5A | c.5018T>A (p.Phe1673Tyr) c.5021T>A (p.Phe1674Tyr) c.4967T>A (p.Phe1656Tyr) c.4859T>A (p.Phe1620Tyr) c.4922T>A (p.Phe1641Tyr) c.4892T>A (p.Phe1631Tyr) c.4964T>A (p.Phe1655Tyr) | |
| 3 | g.38551352A= | CA1358557896 | SCN5A | c.5017T= (p.Phe1673=) c.5020T= (p.Phe1674=) c.4966T= (p.Phe1656=) c.4858T= (p.Phe1620=) c.4921T= (p.Phe1641=) c.4891T= (p.Phe1631=) c.4963T= (p.Phe1655=) | |
| 3 | g.38551352A>C | CA352142724 | SCN5A | c.5017T>G (p.Phe1673Val) c.5020T>G (p.Phe1674Val) c.4966T>G (p.Phe1656Val) c.4858T>G (p.Phe1620Val) c.4921T>G (p.Phe1641Val) c.4891T>G (p.Phe1631Val) c.4963T>G (p.Phe1655Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38551352A>G | CA352142725 | SCN5A | c.5017T>C (p.Phe1673Leu) c.5020T>C (p.Phe1674Leu) c.4966T>C (p.Phe1656Leu) c.4858T>C (p.Phe1620Leu) c.4921T>C (p.Phe1641Leu) c.4891T>C (p.Phe1631Leu) c.4963T>C (p.Phe1655Leu) | |
| 3 | g.38551352A>T | CA352142727 | SCN5A | c.5017T>A (p.Phe1673Ile) c.5020T>A (p.Phe1674Ile) c.4966T>A (p.Phe1656Ile) c.4858T>A (p.Phe1620Ile) c.4921T>A (p.Phe1641Ile) c.4891T>A (p.Phe1631Ile) c.4963T>A (p.Phe1655Ile) | |
| 3 | g.38551353G>A | CA433332110 | SCN5A | c.5016C>T (p.Ile1672=) c.5019C>T (p.Ile1673=) c.4965C>T (p.Ile1655=) c.4857C>T (p.Ile1619=) c.4920C>T (p.Ile1640=) c.4890C>T (p.Ile1630=) c.4962C>T (p.Ile1654=) | |
| 3 | g.38551353G>C | CA352142729 | SCN5A | c.5016C>G (p.Ile1672Met) c.5019C>G (p.Ile1673Met) c.4965C>G (p.Ile1655Met) c.4857C>G (p.Ile1619Met) c.4920C>G (p.Ile1640Met) c.4890C>G (p.Ile1630Met) c.4962C>G (p.Ile1654Met) | |
| 3 | g.38551353G= | CA1358557900 | SCN5A | c.5016C= (p.Ile1672=) c.5019C= (p.Ile1673=) c.4965C= (p.Ile1655=) c.4857C= (p.Ile1619=) c.4920C= (p.Ile1640=) c.4890C= (p.Ile1630=) c.4962C= (p.Ile1654=) | |
| 3 | g.38551353G>T | CA433332113 | SCN5A | c.5016C>A (p.Ile1672=) c.5019C>A (p.Ile1673=) c.4965C>A (p.Ile1655=) c.4857C>A (p.Ile1619=) c.4920C>A (p.Ile1640=) c.4890C>A (p.Ile1630=) c.4962C>A (p.Ile1654=) | dbSNP gnomAD v4 |
| 3 | g.38551354A= | CA1358557902 | SCN5A | c.5015T= (p.Ile1672=) c.5018T= (p.Ile1673=) c.4964T= (p.Ile1655=) c.4856T= (p.Ile1619=) c.4919T= (p.Ile1640=) c.4889T= (p.Ile1630=) c.4961T= (p.Ile1654=) | |
| 3 | g.38551354A>C | CA352142731 | SCN5A | c.5015T>G (p.Ile1672Ser) c.5018T>G (p.Ile1673Ser) c.4964T>G (p.Ile1655Ser) c.4856T>G (p.Ile1619Ser) c.4919T>G (p.Ile1640Ser) c.4889T>G (p.Ile1630Ser) c.4961T>G (p.Ile1654Ser) | |
| 3 | g.38551354A>G | CA352142735 | SCN5A | c.5015T>C (p.Ile1672Thr) c.5018T>C (p.Ile1673Thr) c.4964T>C (p.Ile1655Thr) c.4856T>C (p.Ile1619Thr) c.4919T>C (p.Ile1640Thr) c.4889T>C (p.Ile1630Thr) c.4961T>C (p.Ile1654Thr) | dbSNP |
| 3 | g.38551354A>T | CA352142733 | SCN5A | c.5015T>A (p.Ile1672Asn) c.5018T>A (p.Ile1673Asn) c.4964T>A (p.Ile1655Asn) c.4856T>A (p.Ile1619Asn) c.4919T>A (p.Ile1640Asn) c.4889T>A (p.Ile1630Asn) c.4961T>A (p.Ile1654Asn) | ClinVar dbSNP |
| 3 | g.38551355T>A | CA352142737 | SCN5A | c.5014A>T (p.Ile1672Phe) c.5017A>T (p.Ile1673Phe) c.4963A>T (p.Ile1655Phe) c.4855A>T (p.Ile1619Phe) c.4918A>T (p.Ile1640Phe) c.4888A>T (p.Ile1630Phe) c.4960A>T (p.Ile1654Phe) | |
| 3 | g.38551355T>C | CA352142742 | SCN5A | c.5014A>G (p.Ile1672Val) c.5017A>G (p.Ile1673Val) c.4963A>G (p.Ile1655Val) c.4855A>G (p.Ile1619Val) c.4918A>G (p.Ile1640Val) c.4888A>G (p.Ile1630Val) c.4960A>G (p.Ile1654Val) | |
| 3 | g.38551355T>G | CA352142744 | SCN5A | c.5014A>C (p.Ile1672Leu) c.5017A>C (p.Ile1673Leu) c.4963A>C (p.Ile1655Leu) c.4855A>C (p.Ile1619Leu) c.4918A>C (p.Ile1640Leu) c.4888A>C (p.Ile1630Leu) c.4960A>C (p.Ile1654Leu) | gnomAD v4 |
| 3 | g.38551356G>A | CA433332118 | SCN5A | c.5013C>T (p.Ser1671=) c.5016C>T (p.Ser1672=) c.4962C>T (p.Ser1654=) c.4854C>T (p.Ser1618=) c.4917C>T (p.Ser1639=) c.4887C>T (p.Ser1629=) c.4959C>T (p.Ser1653=) | dbSNP gnomAD v2 |
| 3 | g.38551356G>C | CA433332119 | SCN5A | c.5013C>G (p.Ser1671=) c.5016C>G (p.Ser1672=) c.4962C>G (p.Ser1654=) c.4854C>G (p.Ser1618=) c.4917C>G (p.Ser1639=) c.4887C>G (p.Ser1629=) c.4959C>G (p.Ser1653=) | |
| 3 | g.38551356G= | CA1358557905 | SCN5A | c.5013C= (p.Ser1671=) c.5016C= (p.Ser1672=) c.4962C= (p.Ser1654=) c.4854C= (p.Ser1618=) c.4917C= (p.Ser1639=) c.4887C= (p.Ser1629=) c.4959C= (p.Ser1653=) | |
| 3 | g.38551356G>T | CA433332121 | SCN5A | c.5013C>A (p.Ser1671=) c.5016C>A (p.Ser1672=) c.4962C>A (p.Ser1654=) c.4854C>A (p.Ser1618=) c.4917C>A (p.Ser1639=) c.4887C>A (p.Ser1629=) c.4959C>A (p.Ser1653=) | |
| 3 | g.38551357G>A | CA352142746 | SCN5A | c.5012C>T (p.Ser1671Phe) c.5015C>T (p.Ser1672Phe) c.4961C>T (p.Ser1654Phe) c.4853C>T (p.Ser1618Phe) c.4916C>T (p.Ser1639Phe) c.4886C>T (p.Ser1629Phe) c.4958C>T (p.Ser1653Phe) | ClinVar dbSNP |
| 3 | g.38551357G>C | CA352142748 | SCN5A | c.5012C>G (p.Ser1671Cys) c.5015C>G (p.Ser1672Cys) c.4961C>G (p.Ser1654Cys) c.4853C>G (p.Ser1618Cys) c.4916C>G (p.Ser1639Cys) c.4886C>G (p.Ser1629Cys) c.4958C>G (p.Ser1653Cys) | |
| 3 | g.38551357G= | CA1358557908 | SCN5A | c.5012C= (p.Ser1671=) c.5015C= (p.Ser1672=) c.4961C= (p.Ser1654=) c.4853C= (p.Ser1618=) c.4916C= (p.Ser1639=) c.4886C= (p.Ser1629=) c.4958C= (p.Ser1653=) | |
| 3 | g.38551357G>T | CA018848 | SCN5A | c.5012C>A (p.Ser1671Tyr) c.5015C>A (p.Ser1672Tyr) c.4961C>A (p.Ser1654Tyr) c.4853C>A (p.Ser1618Tyr) c.4916C>A (p.Ser1639Tyr) c.4886C>A (p.Ser1629Tyr) c.4958C>A (p.Ser1653Tyr) | ClinVar dbSNP |
| 3 | g.38551358A>C | CA352142750 | SCN5A | c.5011T>G (p.Ser1671Ala) c.5014T>G (p.Ser1672Ala) c.4960T>G (p.Ser1654Ala) c.4852T>G (p.Ser1618Ala) c.4915T>G (p.Ser1639Ala) c.4885T>G (p.Ser1629Ala) c.4957T>G (p.Ser1653Ala) | |
| 3 | g.38551358A>G | CA352142752 | SCN5A | c.5011T>C (p.Ser1671Pro) c.5014T>C (p.Ser1672Pro) c.4960T>C (p.Ser1654Pro) c.4852T>C (p.Ser1618Pro) c.4915T>C (p.Ser1639Pro) c.4885T>C (p.Ser1629Pro) c.4957T>C (p.Ser1653Pro) | |
| 3 | g.38551358A>T | CA352142754 | SCN5A | c.5011T>A (p.Ser1671Thr) c.5014T>A (p.Ser1672Thr) c.4960T>A (p.Ser1654Thr) c.4852T>A (p.Ser1618Thr) c.4915T>A (p.Ser1639Thr) c.4885T>A (p.Ser1629Thr) c.4957T>A (p.Ser1653Thr) | |
| 3 | g.38551359G>A | CA72938216 | SCN5A | c.5010C>T (p.Tyr1670=) c.5013C>T (p.Tyr1671=) c.4959C>T (p.Tyr1653=) c.4851C>T (p.Tyr1617=) c.4914C>T (p.Tyr1638=) c.4884C>T (p.Tyr1628=) c.4956C>T (p.Tyr1652=) | dbSNP |
| 3 | g.38551359G>C | CA352142756 | SCN5A | c.5010C>G (p.Tyr1670Ter) c.5013C>G (p.Tyr1671Ter) c.4959C>G (p.Tyr1653Ter) c.4851C>G (p.Tyr1617Ter) c.4914C>G (p.Tyr1638Ter) c.4884C>G (p.Tyr1628Ter) c.4956C>G (p.Tyr1652Ter) | |
| 3 | g.38551359G= | CA1358557914 | SCN5A | c.5010C= (p.Tyr1670=) c.5013C= (p.Tyr1671=) c.4959C= (p.Tyr1653=) c.4851C= (p.Tyr1617=) c.4914C= (p.Tyr1638=) c.4884C= (p.Tyr1628=) c.4956C= (p.Tyr1652=) | |
| 3 | g.38551359G>T | CA352142758 | SCN5A | c.5010C>A (p.Tyr1670Ter) c.5013C>A (p.Tyr1671Ter) c.4959C>A (p.Tyr1653Ter) c.4851C>A (p.Tyr1617Ter) c.4914C>A (p.Tyr1638Ter) c.4884C>A (p.Tyr1628Ter) c.4956C>A (p.Tyr1652Ter) | |
| 3 | g.38551360T>A | CA352142760 | SCN5A | c.5009A>T (p.Tyr1670Phe) c.5012A>T (p.Tyr1671Phe) c.4958A>T (p.Tyr1653Phe) c.4850A>T (p.Tyr1617Phe) c.4913A>T (p.Tyr1638Phe) c.4883A>T (p.Tyr1628Phe) c.4955A>T (p.Tyr1652Phe) | |
| 3 | g.38551360T>C | CA352142763 | SCN5A | c.5009A>G (p.Tyr1670Cys) c.5012A>G (p.Tyr1671Cys) c.4958A>G (p.Tyr1653Cys) c.4850A>G (p.Tyr1617Cys) c.4913A>G (p.Tyr1638Cys) c.4883A>G (p.Tyr1628Cys) c.4955A>G (p.Tyr1652Cys) | |
| 3 | g.38551360T>G | CA352142761 | SCN5A | c.5009A>C (p.Tyr1670Ser) c.5012A>C (p.Tyr1671Ser) c.4958A>C (p.Tyr1653Ser) c.4850A>C (p.Tyr1617Ser) c.4913A>C (p.Tyr1638Ser) c.4883A>C (p.Tyr1628Ser) c.4955A>C (p.Tyr1652Ser) |