Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.38551352A=CA1358557896SCN5Ac.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=)
3g.38551352A>CCA352142724SCN5Ac.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
3g.38551352A>GCA352142725SCN5Ac.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)
3g.38551352A>TCA352142727SCN5Ac.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)
3g.38551353G>ACA433332110SCN5Ac.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=)
3g.38551353G>CCA352142729SCN5Ac.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)
3g.38551353G=CA1358557900SCN5Ac.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=)
3g.38551353G>TCA433332113SCN5Ac.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
3g.38551354A=CA1358557902SCN5Ac.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=)
3g.38551354A>CCA352142731SCN5Ac.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)
3g.38551354A>GCA352142735SCN5Ac.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
3g.38551354A>TCA352142733SCN5Ac.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
3g.38551355T>ACA352142737SCN5Ac.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)
3g.38551355T>CCA352142742SCN5Ac.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)
3g.38551355T>GCA352142744SCN5Ac.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
3g.38551356G>ACA433332118SCN5Ac.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
3g.38551356G>CCA433332119SCN5Ac.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=)
3g.38551356G=CA1358557905SCN5Ac.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=)
3g.38551356G>TCA433332121SCN5Ac.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=)
3g.38551357G>ACA352142746SCN5Ac.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
3g.38551357G>CCA352142748SCN5Ac.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)
3g.38551357G=CA1358557908SCN5Ac.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=)
3g.38551357G>TCA018848SCN5Ac.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
3g.38551358A>CCA352142750SCN5Ac.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)
3g.38551358A>GCA352142752SCN5Ac.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)
3g.38551358A>TCA352142754SCN5Ac.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)
3g.38551359G>ACA72938216SCN5Ac.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
3g.38551359G>CCA352142756SCN5Ac.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)
3g.38551359G=CA1358557914SCN5Ac.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=)
3g.38551359G>TCA352142758SCN5Ac.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)
3g.38551360T>ACA352142760SCN5Ac.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)
3g.38551360T>CCA352142763SCN5Ac.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)
3g.38551360T>GCA352142761SCN5Ac.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)
3g.38551361A>CCA352142765SCN5Ac.5008T>G (p.Tyr1670Asp)
c.5011T>G (p.Tyr1671Asp)
c.4957T>G (p.Tyr1653Asp)
c.4849T>G (p.Tyr1617Asp)
c.4912T>G (p.Tyr1638Asp)
c.4882T>G (p.Tyr1628Asp)
c.4954T>G (p.Tyr1652Asp)
3g.38551361A>GCA352142767SCN5Ac.5008T>C (p.Tyr1670His)
c.5011T>C (p.Tyr1671His)
c.4957T>C (p.Tyr1653His)
c.4849T>C (p.Tyr1617His)
c.4912T>C (p.Tyr1638His)
c.4882T>C (p.Tyr1628His)
c.4954T>C (p.Tyr1652His)
3g.38551361A>TCA352142768SCN5Ac.5008T>A (p.Tyr1670Asn)
c.5011T>A (p.Tyr1671Asn)
c.4957T>A (p.Tyr1653Asn)
c.4849T>A (p.Tyr1617Asn)
c.4912T>A (p.Tyr1638Asn)
c.4882T>A (p.Tyr1628Asn)
c.4954T>A (p.Tyr1652Asn)
3g.38551362G>ACA433332129SCN5Ac.5007C>T (p.Ile1669=)
c.5010C>T (p.Ile1670=)
c.4956C>T (p.Ile1652=)
c.4848C>T (p.Ile1616=)
c.4911C>T (p.Ile1637=)
c.4881C>T (p.Ile1627=)
c.4953C>T (p.Ile1651=)
gnomAD v4
3g.38551362G>CCA352142771SCN5Ac.5007C>G (p.Ile1669Met)
c.5010C>G (p.Ile1670Met)
c.4956C>G (p.Ile1652Met)
c.4848C>G (p.Ile1616Met)
c.4911C>G (p.Ile1637Met)
c.4881C>G (p.Ile1627Met)
c.4953C>G (p.Ile1651Met)
3g.38551362G>TCA433332130SCN5Ac.5007C>A (p.Ile1669=)
c.5010C>A (p.Ile1670=)
c.4956C>A (p.Ile1652=)
c.4848C>A (p.Ile1616=)
c.4911C>A (p.Ile1637=)
c.4881C>A (p.Ile1627=)
c.4953C>A (p.Ile1651=)
3g.38551363A=CA1358557916SCN5Ac.5006T= (p.Ile1669=)
c.5009T= (p.Ile1670=)
c.4955T= (p.Ile1652=)
c.4847T= (p.Ile1616=)
c.4910T= (p.Ile1637=)
c.4880T= (p.Ile1627=)
c.4952T= (p.Ile1651=)
3g.38551363A>CCA352142773SCN5Ac.5006T>G (p.Ile1669Ser)
c.5009T>G (p.Ile1670Ser)
c.4955T>G (p.Ile1652Ser)
c.4847T>G (p.Ile1616Ser)
c.4910T>G (p.Ile1637Ser)
c.4880T>G (p.Ile1627Ser)
c.4952T>G (p.Ile1651Ser)
3g.38551363A>GCA018843SCN5Ac.5006T>C (p.Ile1669Thr)
c.5009T>C (p.Ile1670Thr)
c.4955T>C (p.Ile1652Thr)
c.4847T>C (p.Ile1616Thr)
c.4910T>C (p.Ile1637Thr)
c.4880T>C (p.Ile1627Thr)
c.4952T>C (p.Ile1651Thr)
ClinVar dbSNP
3g.38551363A>TCA352142776SCN5Ac.5006T>A (p.Ile1669Asn)
c.5009T>A (p.Ile1670Asn)
c.4955T>A (p.Ile1652Asn)
c.4847T>A (p.Ile1616Asn)
c.4910T>A (p.Ile1637Asn)
c.4880T>A (p.Ile1627Asn)
c.4952T>A (p.Ile1651Asn)
3g.38551364T>ACA352142777SCN5Ac.5005A>T (p.Ile1669Phe)
c.5008A>T (p.Ile1670Phe)
c.4954A>T (p.Ile1652Phe)
c.4846A>T (p.Ile1616Phe)
c.4909A>T (p.Ile1637Phe)
c.4879A>T (p.Ile1627Phe)
c.4951A>T (p.Ile1651Phe)
3g.38551364T>CCA352142778SCN5Ac.5005A>G (p.Ile1669Val)
c.5008A>G (p.Ile1670Val)
c.4954A>G (p.Ile1652Val)
c.4846A>G (p.Ile1616Val)
c.4909A>G (p.Ile1637Val)
c.4879A>G (p.Ile1627Val)
c.4951A>G (p.Ile1651Val)
gnomAD v4
3g.38551364T>GCA352142780SCN5Ac.5005A>C (p.Ile1669Leu)
c.5008A>C (p.Ile1670Leu)
c.4954A>C (p.Ile1652Leu)
c.4846A>C (p.Ile1616Leu)
c.4909A>C (p.Ile1637Leu)
c.4879A>C (p.Ile1627Leu)
c.4951A>C (p.Ile1651Leu)
3g.38551365G>ACA433332134SCN5Ac.5004C>T (p.Phe1668=)
c.5007C>T (p.Phe1669=)
c.4953C>T (p.Phe1651=)
c.4845C>T (p.Phe1615=)
c.4908C>T (p.Phe1636=)
c.4878C>T (p.Phe1626=)
c.4950C>T (p.Phe1650=)
ClinVar
3g.38551365G>CCA352142782SCN5Ac.5004C>G (p.Phe1668Leu)
c.5007C>G (p.Phe1669Leu)
c.4953C>G (p.Phe1651Leu)
c.4845C>G (p.Phe1615Leu)
c.4908C>G (p.Phe1636Leu)
c.4878C>G (p.Phe1626Leu)
c.4950C>G (p.Phe1650Leu)
3g.38551365G=CA1358557920SCN5Ac.5004C= (p.Phe1668=)
c.5007C= (p.Phe1669=)
c.4953C= (p.Phe1651=)
c.4845C= (p.Phe1615=)
c.4908C= (p.Phe1636=)
c.4878C= (p.Phe1626=)
c.4950C= (p.Phe1650=)
3g.38551365G>TCA72938220SCN5Ac.5004C>A (p.Phe1668Leu)
c.5007C>A (p.Phe1669Leu)
c.4953C>A (p.Phe1651Leu)
c.4845C>A (p.Phe1615Leu)
c.4908C>A (p.Phe1636Leu)
c.4878C>A (p.Phe1626Leu)
c.4950C>A (p.Phe1650Leu)
ClinVar dbSNP
3g.38551366A>CCA352142789SCN5Ac.5003T>G (p.Phe1668Cys)
c.5006T>G (p.Phe1669Cys)
c.4952T>G (p.Phe1651Cys)
c.4844T>G (p.Phe1615Cys)
c.4907T>G (p.Phe1636Cys)
c.4877T>G (p.Phe1626Cys)
c.4949T>G (p.Phe1650Cys)
3g.38551366A>GCA352142787SCN5Ac.5003T>C (p.Phe1668Ser)
c.5006T>C (p.Phe1669Ser)
c.4952T>C (p.Phe1651Ser)
c.4844T>C (p.Phe1615Ser)
c.4907T>C (p.Phe1636Ser)
c.4877T>C (p.Phe1626Ser)
c.4949T>C (p.Phe1650Ser)
3g.38551366A>TCA352142785SCN5Ac.5003T>A (p.Phe1668Tyr)
c.5006T>A (p.Phe1669Tyr)
c.4952T>A (p.Phe1651Tyr)
c.4844T>A (p.Phe1615Tyr)
c.4907T>A (p.Phe1636Tyr)
c.4877T>A (p.Phe1626Tyr)
c.4949T>A (p.Phe1650Tyr)
3g.38551367A>CCA352142791SCN5Ac.5002T>G (p.Phe1668Val)
c.5005T>G (p.Phe1669Val)
c.4951T>G (p.Phe1651Val)
c.4843T>G (p.Phe1615Val)
c.4906T>G (p.Phe1636Val)
c.4876T>G (p.Phe1626Val)
c.4948T>G (p.Phe1650Val)
3g.38551367A>GCA352142793SCN5Ac.5002T>C (p.Phe1668Leu)
c.5005T>C (p.Phe1669Leu)
c.4951T>C (p.Phe1651Leu)
c.4843T>C (p.Phe1615Leu)
c.4906T>C (p.Phe1636Leu)
c.4876T>C (p.Phe1626Leu)
c.4948T>C (p.Phe1650Leu)
3g.38551367A>TCA352142795SCN5Ac.5002T>A (p.Phe1668Ile)
c.5005T>A (p.Phe1669Ile)
c.4951T>A (p.Phe1651Ile)
c.4843T>A (p.Phe1615Ile)
c.4906T>A (p.Phe1636Ile)
c.4876T>A (p.Phe1626Ile)
c.4948T>A (p.Phe1650Ile)
3g.38551368C>ACA352142797SCN5Ac.5001G>T (p.Met1667Ile)
c.5004G>T (p.Met1668Ile)
c.4950G>T (p.Met1650Ile)
c.4842G>T (p.Met1614Ile)
c.4905G>T (p.Met1635Ile)
c.4875G>T (p.Met1625Ile)
c.4947G>T (p.Met1649Ile)
3g.38551368C>GCA352142799SCN5Ac.5001G>C (p.Met1667Ile)
c.5004G>C (p.Met1668Ile)
c.4950G>C (p.Met1650Ile)
c.4842G>C (p.Met1614Ile)
c.4905G>C (p.Met1635Ile)
c.4875G>C (p.Met1625Ile)
c.4947G>C (p.Met1649Ile)
3g.38551368C>TCA352142801SCN5Ac.5001G>A (p.Met1667Ile)
c.5004G>A (p.Met1668Ile)
c.4950G>A (p.Met1650Ile)
c.4842G>A (p.Met1614Ile)
c.4905G>A (p.Met1635Ile)
c.4875G>A (p.Met1625Ile)
c.4947G>A (p.Met1649Ile)
3g.38551369A=CA1358557925SCN5Ac.5000T= (p.Met1667=)
c.5003T= (p.Met1668=)
c.4949T= (p.Met1650=)
c.4841T= (p.Met1614=)
c.4904T= (p.Met1635=)
c.4874T= (p.Met1625=)
c.4946T= (p.Met1649=)
3g.38551369A>CCA352142802SCN5Ac.5000T>G (p.Met1667Arg)
c.5003T>G (p.Met1668Arg)
c.4949T>G (p.Met1650Arg)
c.4841T>G (p.Met1614Arg)
c.4904T>G (p.Met1635Arg)
c.4874T>G (p.Met1625Arg)
c.4946T>G (p.Met1649Arg)
3g.38551369A>GCA064059SCN5Ac.5000T>C (p.Met1667Thr)
c.5003T>C (p.Met1668Thr)
c.4949T>C (p.Met1650Thr)
c.4841T>C (p.Met1614Thr)
c.4904T>C (p.Met1635Thr)
c.4874T>C (p.Met1625Thr)
c.4946T>C (p.Met1649Thr)
ClinVar dbSNP ExAC
3g.38551369A>TCA352142803SCN5Ac.5000T>A (p.Met1667Lys)
c.5003T>A (p.Met1668Lys)
c.4949T>A (p.Met1650Lys)
c.4841T>A (p.Met1614Lys)
c.4904T>A (p.Met1635Lys)
c.4874T>A (p.Met1625Lys)
c.4946T>A (p.Met1649Lys)
3g.38551370T>ACA352142804SCN5Ac.4999A>T (p.Met1667Leu)
c.5002A>T (p.Met1668Leu)
c.4948A>T (p.Met1650Leu)
c.4840A>T (p.Met1614Leu)
c.4903A>T (p.Met1635Leu)
c.4873A>T (p.Met1625Leu)
c.4945A>T (p.Met1649Leu)
gnomAD v4
3g.38551370T>CCA352142805SCN5Ac.4999A>G (p.Met1667Val)
c.5002A>G (p.Met1668Val)
c.4948A>G (p.Met1650Val)
c.4840A>G (p.Met1614Val)
c.4903A>G (p.Met1635Val)
c.4873A>G (p.Met1625Val)
c.4945A>G (p.Met1649Val)
dbSNP gnomAD v4
3g.38551370T>GCA352142806SCN5Ac.4999A>C (p.Met1667Leu)
c.5002A>C (p.Met1668Leu)
c.4948A>C (p.Met1650Leu)
c.4840A>C (p.Met1614Leu)
c.4903A>C (p.Met1635Leu)
c.4873A>C (p.Met1625Leu)
c.4945A>C (p.Met1649Leu)
3g.38551370T=CA1358557930SCN5Ac.4999A= (p.Met1667=)
c.5002A= (p.Met1668=)
c.4948A= (p.Met1650=)
c.4840A= (p.Met1614=)
c.4903A= (p.Met1635=)
c.4873A= (p.Met1625=)
c.4945A= (p.Met1649=)
3g.38551371G>ACA433332140SCN5Ac.4998C>T (p.Val1666=)
c.5001C>T (p.Val1667=)
c.4947C>T (p.Val1649=)
c.4839C>T (p.Val1613=)
c.4902C>T (p.Val1634=)
c.4872C>T (p.Val1624=)
c.4944C>T (p.Val1648=)
3g.38551371G>CCA433332142SCN5Ac.4998C>G (p.Val1666=)
c.5001C>G (p.Val1667=)
c.4947C>G (p.Val1649=)
c.4839C>G (p.Val1613=)
c.4902C>G (p.Val1634=)
c.4872C>G (p.Val1624=)
c.4944C>G (p.Val1648=)
3g.38551371G>TCA433332141SCN5Ac.4998C>A (p.Val1666=)
c.5001C>A (p.Val1667=)
c.4947C>A (p.Val1649=)
c.4839C>A (p.Val1613=)
c.4902C>A (p.Val1634=)
c.4872C>A (p.Val1624=)
c.4944C>A (p.Val1648=)
3g.38551372A=CA1358557932SCN5Ac.4997T= (p.Val1666=)
c.5000T= (p.Val1667=)
c.4946T= (p.Val1649=)
c.4838T= (p.Val1613=)
c.4901T= (p.Val1634=)
c.4871T= (p.Val1624=)
c.4943T= (p.Val1648=)
3g.38551372A>CCA352142808SCN5Ac.4997T>G (p.Val1666Gly)
c.5000T>G (p.Val1667Gly)
c.4946T>G (p.Val1649Gly)
c.4838T>G (p.Val1613Gly)
c.4901T>G (p.Val1634Gly)
c.4871T>G (p.Val1624Gly)
c.4943T>G (p.Val1648Gly)
3g.38551372A>GCA72938222SCN5Ac.4997T>C (p.Val1666Ala)
c.5000T>C (p.Val1667Ala)
c.4946T>C (p.Val1649Ala)
c.4838T>C (p.Val1613Ala)
c.4901T>C (p.Val1634Ala)
c.4871T>C (p.Val1624Ala)
c.4943T>C (p.Val1648Ala)
dbSNP gnomAD v4
3g.38551372A>TCA352142807SCN5Ac.4997T>A (p.Val1666Asp)
c.5000T>A (p.Val1667Asp)
c.4946T>A (p.Val1649Asp)
c.4838T>A (p.Val1613Asp)
c.4901T>A (p.Val1634Asp)
c.4871T>A (p.Val1624Asp)
c.4943T>A (p.Val1648Asp)
3g.38551373C>ACA352142809SCN5Ac.4996G>T (p.Val1666Phe)
c.4999G>T (p.Val1667Phe)
c.4945G>T (p.Val1649Phe)
c.4837G>T (p.Val1613Phe)
c.4900G>T (p.Val1634Phe)
c.4870G>T (p.Val1624Phe)
c.4942G>T (p.Val1648Phe)
3g.38551373C=CA1358557938SCN5Ac.4996G= (p.Val1666=)
c.4999G= (p.Val1667=)
c.4945G= (p.Val1649=)
c.4837G= (p.Val1613=)
c.4900G= (p.Val1634=)
c.4870G= (p.Val1624=)
c.4942G= (p.Val1648=)
3g.38551373C>GCA018830SCN5Ac.4996G>C (p.Val1666Leu)
c.4999G>C (p.Val1667Leu)
c.4945G>C (p.Val1649Leu)
c.4837G>C (p.Val1613Leu)
c.4900G>C (p.Val1634Leu)
c.4870G>C (p.Val1624Leu)
c.4942G>C (p.Val1648Leu)
ClinVar dbSNP
3g.38551373C>TCA018825SCN5Ac.4996G>A (p.Val1666Ile)
c.4999G>A (p.Val1667Ile)
c.4945G>A (p.Val1649Ile)
c.4837G>A (p.Val1613Ile)
c.4900G>A (p.Val1634Ile)
c.4870G>A (p.Val1624Ile)
c.4942G>A (p.Val1648Ile)
ClinVar dbSNP gnomAD v2 gnomAD v4
3g.38551374G>ACA064050SCN5Ac.4995C>T (p.Leu1665=)
c.4998C>T (p.Leu1666=)
c.4944C>T (p.Leu1648=)
c.4836C>T (p.Leu1612=)
c.4899C>T (p.Leu1633=)
c.4869C>T (p.Leu1623=)
c.4941C>T (p.Leu1647=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC
3g.38551374G>CCA433332147SCN5Ac.4995C>G (p.Leu1665=)
c.4998C>G (p.Leu1666=)
c.4944C>G (p.Leu1648=)
c.4836C>G (p.Leu1612=)
c.4899C>G (p.Leu1633=)
c.4869C>G (p.Leu1623=)
c.4941C>G (p.Leu1647=)
3g.38551374G=CA1358557945SCN5Ac.4995C= (p.Leu1665=)
c.4998C= (p.Leu1666=)
c.4944C= (p.Leu1648=)
c.4836C= (p.Leu1612=)
c.4899C= (p.Leu1633=)
c.4869C= (p.Leu1623=)
c.4941C= (p.Leu1647=)
3g.38551374G>TCA433332148SCN5Ac.4995C>A (p.Leu1665=)
c.4998C>A (p.Leu1666=)
c.4944C>A (p.Leu1648=)
c.4836C>A (p.Leu1612=)
c.4899C>A (p.Leu1633=)
c.4869C>A (p.Leu1623=)
c.4941C>A (p.Leu1647=)
3g.38551375A>CCA352142812SCN5Ac.4994T>G (p.Leu1665Arg)
c.4997T>G (p.Leu1666Arg)
c.4943T>G (p.Leu1648Arg)
c.4835T>G (p.Leu1612Arg)
c.4898T>G (p.Leu1633Arg)
c.4868T>G (p.Leu1623Arg)
c.4940T>G (p.Leu1647Arg)
3g.38551375A>GCA352142810SCN5Ac.4994T>C (p.Leu1665Pro)
c.4997T>C (p.Leu1666Pro)
c.4943T>C (p.Leu1648Pro)
c.4835T>C (p.Leu1612Pro)
c.4898T>C (p.Leu1633Pro)
c.4868T>C (p.Leu1623Pro)
c.4940T>C (p.Leu1647Pro)
3g.38551375A>TCA352142811SCN5Ac.4994T>A (p.Leu1665His)
c.4997T>A (p.Leu1666His)
c.4943T>A (p.Leu1648His)
c.4835T>A (p.Leu1612His)
c.4898T>A (p.Leu1633His)
c.4868T>A (p.Leu1623His)
c.4940T>A (p.Leu1647His)
3g.38551376G>ACA352142813SCN5Ac.4993C>T (p.Leu1665Phe)
c.4996C>T (p.Leu1666Phe)
c.4942C>T (p.Leu1648Phe)
c.4834C>T (p.Leu1612Phe)
c.4897C>T (p.Leu1633Phe)
c.4867C>T (p.Leu1623Phe)
c.4939C>T (p.Leu1647Phe)
ClinVar gnomAD v4 COSMIC COSMIC COSMIC
3g.38551376G>CCA352142814SCN5Ac.4993C>G (p.Leu1665Val)
c.4996C>G (p.Leu1666Val)
c.4942C>G (p.Leu1648Val)
c.4834C>G (p.Leu1612Val)
c.4897C>G (p.Leu1633Val)
c.4867C>G (p.Leu1623Val)
c.4939C>G (p.Leu1647Val)
3g.38551376G>TCA352142816SCN5Ac.4993C>A (p.Leu1665Ile)
c.4996C>A (p.Leu1666Ile)
c.4942C>A (p.Leu1648Ile)
c.4834C>A (p.Leu1612Ile)
c.4897C>A (p.Leu1633Ile)
c.4867C>A (p.Leu1623Ile)
c.4939C>A (p.Leu1647Ile)
3g.38551377G>ACA433332152SCN5Ac.4992C>T (p.Phe1664=)
c.4995C>T (p.Phe1665=)
c.4941C>T (p.Phe1647=)
c.4833C>T (p.Phe1611=)
c.4896C>T (p.Phe1632=)
c.4866C>T (p.Phe1622=)
c.4938C>T (p.Phe1646=)
dbSNP gnomAD v3 gnomAD v4
3g.38551377G>CCA352142817SCN5Ac.4992C>G (p.Phe1664Leu)
c.4995C>G (p.Phe1665Leu)
c.4941C>G (p.Phe1647Leu)
c.4833C>G (p.Phe1611Leu)
c.4896C>G (p.Phe1632Leu)
c.4866C>G (p.Phe1622Leu)
c.4938C>G (p.Phe1646Leu)
3g.38551377G>TCA352142819SCN5Ac.4992C>A (p.Phe1664Leu)
c.4995C>A (p.Phe1665Leu)
c.4941C>A (p.Phe1647Leu)
c.4833C>A (p.Phe1611Leu)
c.4896C>A (p.Phe1632Leu)
c.4866C>A (p.Phe1622Leu)
c.4938C>A (p.Phe1646Leu)
3g.38551378A>CCA352142821SCN5Ac.4991T>G (p.Phe1664Cys)
c.4994T>G (p.Phe1665Cys)
c.4940T>G (p.Phe1647Cys)
c.4832T>G (p.Phe1611Cys)
c.4895T>G (p.Phe1632Cys)
c.4865T>G (p.Phe1622Cys)
c.4937T>G (p.Phe1646Cys)
3g.38551378A>GCA352142822SCN5Ac.4991T>C (p.Phe1664Ser)
c.4994T>C (p.Phe1665Ser)
c.4940T>C (p.Phe1647Ser)
c.4832T>C (p.Phe1611Ser)
c.4895T>C (p.Phe1632Ser)
c.4865T>C (p.Phe1622Ser)
c.4937T>C (p.Phe1646Ser)
gnomAD v4
3g.38551378A>TCA352142823SCN5Ac.4991T>A (p.Phe1664Tyr)
c.4994T>A (p.Phe1665Tyr)
c.4940T>A (p.Phe1647Tyr)
c.4832T>A (p.Phe1611Tyr)
c.4895T>A (p.Phe1632Tyr)
c.4865T>A (p.Phe1622Tyr)
c.4937T>A (p.Phe1646Tyr)
3g.38551379A>CCA352142824SCN5Ac.4990T>G (p.Phe1664Val)
c.4993T>G (p.Phe1665Val)
c.4939T>G (p.Phe1647Val)
c.4831T>G (p.Phe1611Val)
c.4894T>G (p.Phe1632Val)
c.4864T>G (p.Phe1622Val)
c.4936T>G (p.Phe1646Val)
3g.38551379A>GCA352142825SCN5Ac.4990T>C (p.Phe1664Leu)
c.4993T>C (p.Phe1665Leu)
c.4939T>C (p.Phe1647Leu)
c.4831T>C (p.Phe1611Leu)
c.4894T>C (p.Phe1632Leu)
c.4864T>C (p.Phe1622Leu)
c.4936T>C (p.Phe1646Leu)
3g.38551379A>TCA352142826SCN5Ac.4990T>A (p.Phe1664Ile)
c.4993T>A (p.Phe1665Ile)
c.4939T>A (p.Phe1647Ile)
c.4831T>A (p.Phe1611Ile)
c.4894T>A (p.Phe1632Ile)
c.4864T>A (p.Phe1622Ile)
c.4936T>A (p.Phe1646Ile)
3g.38551380G>ACA433332157SCN5Ac.4989C>T (p.Leu1663=)
c.4992C>T (p.Leu1664=)
c.4938C>T (p.Leu1646=)
c.4830C>T (p.Leu1610=)
c.4893C>T (p.Leu1631=)
c.4863C>T (p.Leu1621=)
c.4935C>T (p.Leu1645=)
3g.38551380G>CCA433332158SCN5Ac.4989C>G (p.Leu1663=)
c.4992C>G (p.Leu1664=)
c.4938C>G (p.Leu1646=)
c.4830C>G (p.Leu1610=)
c.4893C>G (p.Leu1631=)
c.4863C>G (p.Leu1621=)
c.4935C>G (p.Leu1645=)
3g.38551380G>TCA433332160SCN5Ac.4989C>A (p.Leu1663=)
c.4992C>A (p.Leu1664=)
c.4938C>A (p.Leu1646=)
c.4830C>A (p.Leu1610=)
c.4893C>A (p.Leu1631=)
c.4863C>A (p.Leu1621=)
c.4935C>A (p.Leu1645=)
ClinVar dbSNP
3g.38551381A>CCA352142829SCN5Ac.4988T>G (p.Leu1663Arg)
c.4991T>G (p.Leu1664Arg)
c.4937T>G (p.Leu1646Arg)
c.4829T>G (p.Leu1610Arg)
c.4892T>G (p.Leu1631Arg)
c.4862T>G (p.Leu1621Arg)
c.4934T>G (p.Leu1645Arg)
3g.38551381A>GCA352142828SCN5Ac.4988T>C (p.Leu1663Pro)
c.4991T>C (p.Leu1664Pro)
c.4937T>C (p.Leu1646Pro)
c.4829T>C (p.Leu1610Pro)
c.4892T>C (p.Leu1631Pro)
c.4862T>C (p.Leu1621Pro)
c.4934T>C (p.Leu1645Pro)
3g.38551381A>TCA352142827SCN5Ac.4988T>A (p.Leu1663His)
c.4991T>A (p.Leu1664His)
c.4937T>A (p.Leu1646His)
c.4829T>A (p.Leu1610His)
c.4892T>A (p.Leu1631His)
c.4862T>A (p.Leu1621His)
c.4934T>A (p.Leu1645His)
3g.38551382G>ACA352142830SCN5Ac.4987C>T (p.Leu1663Phe)
c.4990C>T (p.Leu1664Phe)
c.4936C>T (p.Leu1646Phe)
c.4828C>T (p.Leu1610Phe)
c.4891C>T (p.Leu1631Phe)
c.4861C>T (p.Leu1621Phe)
c.4933C>T (p.Leu1645Phe)
3g.38551382G>CCA352142831SCN5Ac.4987C>G (p.Leu1663Val)
c.4990C>G (p.Leu1664Val)
c.4936C>G (p.Leu1646Val)
c.4828C>G (p.Leu1610Val)
c.4891C>G (p.Leu1631Val)
c.4861C>G (p.Leu1621Val)
c.4933C>G (p.Leu1645Val)
3g.38551382G>TCA352142832SCN5Ac.4987C>A (p.Leu1663Ile)
c.4990C>A (p.Leu1664Ile)
c.4936C>A (p.Leu1646Ile)
c.4828C>A (p.Leu1610Ile)
c.4891C>A (p.Leu1631Ile)
c.4861C>A (p.Leu1621Ile)
c.4933C>A (p.Leu1645Ile)
3g.38551383C>ACA433332168SCN5Ac.4986G>T (p.Leu1662=)
c.4989G>T (p.Leu1663=)
c.4935G>T (p.Leu1645=)
c.4827G>T (p.Leu1609=)
c.4890G>T (p.Leu1630=)
c.4860G>T (p.Leu1620=)
c.4932G>T (p.Leu1644=)
3g.38551383C>GCA433332170SCN5Ac.4986G>C (p.Leu1662=)
c.4989G>C (p.Leu1663=)
c.4935G>C (p.Leu1645=)
c.4827G>C (p.Leu1609=)
c.4890G>C (p.Leu1630=)
c.4860G>C (p.Leu1620=)
c.4932G>C (p.Leu1644=)
3g.38551383C>TCA433332171SCN5Ac.4986G>A (p.Leu1662=)
c.4989G>A (p.Leu1663=)
c.4935G>A (p.Leu1645=)
c.4827G>A (p.Leu1609=)
c.4890G>A (p.Leu1630=)
c.4860G>A (p.Leu1620=)
c.4932G>A (p.Leu1644=)
3g.38551384A>CCA352142833SCN5Ac.4985T>G (p.Leu1662Arg)
c.4988T>G (p.Leu1663Arg)
c.4934T>G (p.Leu1645Arg)
c.4826T>G (p.Leu1609Arg)
c.4889T>G (p.Leu1630Arg)
c.4859T>G (p.Leu1620Arg)
c.4931T>G (p.Leu1644Arg)
3g.38551384A>GCA352142834SCN5Ac.4985T>C (p.Leu1662Pro)
c.4988T>C (p.Leu1663Pro)
c.4934T>C (p.Leu1645Pro)
c.4826T>C (p.Leu1609Pro)
c.4889T>C (p.Leu1630Pro)
c.4859T>C (p.Leu1620Pro)
c.4931T>C (p.Leu1644Pro)
3g.38551384A>TCA352142835SCN5Ac.4985T>A (p.Leu1662Gln)
c.4988T>A (p.Leu1663Gln)
c.4934T>A (p.Leu1645Gln)
c.4826T>A (p.Leu1609Gln)
c.4889T>A (p.Leu1630Gln)
c.4859T>A (p.Leu1620Gln)
c.4931T>A (p.Leu1644Gln)
3g.38551385G>ACA433332174SCN5Ac.4984C>T (p.Leu1662=)
c.4987C>T (p.Leu1663=)
c.4933C>T (p.Leu1645=)
c.4825C>T (p.Leu1609=)
c.4888C>T (p.Leu1630=)
c.4858C>T (p.Leu1620=)
c.4930C>T (p.Leu1644=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.38551385G>CCA352142836SCN5Ac.4984C>G (p.Leu1662Val)
c.4987C>G (p.Leu1663Val)
c.4933C>G (p.Leu1645Val)
c.4825C>G (p.Leu1609Val)
c.4888C>G (p.Leu1630Val)
c.4858C>G (p.Leu1620Val)
c.4930C>G (p.Leu1644Val)
3g.38551385G=CA1358557949SCN5Ac.4984C= (p.Leu1662=)
c.4987C= (p.Leu1663=)
c.4933C= (p.Leu1645=)
c.4825C= (p.Leu1609=)
c.4888C= (p.Leu1630=)
c.4858C= (p.Leu1620=)
c.4930C= (p.Leu1644=)
3g.38551385G>TCA352142837SCN5Ac.4984C>A (p.Leu1662Met)
c.4987C>A (p.Leu1663Met)
c.4933C>A (p.Leu1645Met)
c.4825C>A (p.Leu1609Met)
c.4888C>A (p.Leu1630Met)
c.4858C>A (p.Leu1620Met)
c.4930C>A (p.Leu1644Met)
3g.38551386C>ACA433332178SCN5Ac.4983G>T (p.Leu1661=)
c.4986G>T (p.Leu1662=)
c.4932G>T (p.Leu1644=)
c.4824G>T (p.Leu1608=)
c.4887G>T (p.Leu1629=)
c.4857G>T (p.Leu1619=)
c.4929G>T (p.Leu1643=)
3g.38551386C>GCA433332181SCN5Ac.4983G>C (p.Leu1661=)
c.4986G>C (p.Leu1662=)
c.4932G>C (p.Leu1644=)
c.4824G>C (p.Leu1608=)
c.4887G>C (p.Leu1629=)
c.4857G>C (p.Leu1619=)
c.4929G>C (p.Leu1643=)
3g.38551386C>TCA433332179SCN5Ac.4983G>A (p.Leu1661=)
c.4986G>A (p.Leu1662=)
c.4932G>A (p.Leu1644=)
c.4824G>A (p.Leu1608=)
c.4887G>A (p.Leu1629=)
c.4857G>A (p.Leu1619=)
c.4929G>A (p.Leu1643=)
gnomAD v4
3g.38551387A>CCA352142838SCN5Ac.4982T>G (p.Leu1661Arg)
c.4985T>G (p.Leu1662Arg)
c.4931T>G (p.Leu1644Arg)
c.4823T>G (p.Leu1608Arg)
c.4886T>G (p.Leu1629Arg)
c.4856T>G (p.Leu1619Arg)
c.4928T>G (p.Leu1643Arg)
3g.38551387A>GCA352142839SCN5Ac.4982T>C (p.Leu1661Pro)
c.4985T>C (p.Leu1662Pro)
c.4931T>C (p.Leu1644Pro)
c.4823T>C (p.Leu1608Pro)
c.4886T>C (p.Leu1629Pro)
c.4856T>C (p.Leu1619Pro)
c.4928T>C (p.Leu1643Pro)
3g.38551387A>TCA352142840SCN5Ac.4982T>A (p.Leu1661Gln)
c.4985T>A (p.Leu1662Gln)
c.4931T>A (p.Leu1644Gln)
c.4823T>A (p.Leu1608Gln)
c.4886T>A (p.Leu1629Gln)
c.4856T>A (p.Leu1619Gln)
c.4928T>A (p.Leu1643Gln)
3g.38551388G>ACA433332187SCN5Ac.4981C>T (p.Leu1661=)
c.4984C>T (p.Leu1662=)
c.4930C>T (p.Leu1644=)
c.4822C>T (p.Leu1608=)
c.4885C>T (p.Leu1629=)
c.4855C>T (p.Leu1619=)
c.4927C>T (p.Leu1643=)
COSMIC COSMIC COSMIC
3g.38551388G>CCA352142841SCN5Ac.4981C>G (p.Leu1661Val)
c.4984C>G (p.Leu1662Val)
c.4930C>G (p.Leu1644Val)
c.4822C>G (p.Leu1608Val)
c.4885C>G (p.Leu1629Val)
c.4855C>G (p.Leu1619Val)
c.4927C>G (p.Leu1643Val)
3g.38551388G>TCA352142842SCN5Ac.4981C>A (p.Leu1661Met)
c.4984C>A (p.Leu1662Met)
c.4930C>A (p.Leu1644Met)
c.4822C>A (p.Leu1608Met)
c.4885C>A (p.Leu1629Met)
c.4855C>A (p.Leu1619Met)
c.4927C>A (p.Leu1643Met)
3g.38551389C>ACA433332190SCN5Ac.4980G>T (p.Gly1660=)
c.4983G>T (p.Gly1661=)
c.4929G>T (p.Gly1643=)
c.4821G>T (p.Gly1607=)
c.4884G>T (p.Gly1628=)
c.4854G>T (p.Gly1618=)
c.4926G>T (p.Gly1642=)
3g.38551389C>GCA433332191SCN5Ac.4980G>C (p.Gly1660=)
c.4983G>C (p.Gly1661=)
c.4929G>C (p.Gly1643=)
c.4821G>C (p.Gly1607=)
c.4884G>C (p.Gly1628=)
c.4854G>C (p.Gly1618=)
c.4926G>C (p.Gly1642=)
3g.38551389C>TCA433332195SCN5Ac.4980G>A (p.Gly1660=)
c.4983G>A (p.Gly1661=)
c.4929G>A (p.Gly1643=)
c.4821G>A (p.Gly1607=)
c.4884G>A (p.Gly1628=)
c.4854G>A (p.Gly1618=)
c.4926G>A (p.Gly1642=)
3g.38551390C>ACA352142844SCN5Ac.4979G>T (p.Gly1660Val)
c.4982G>T (p.Gly1661Val)
c.4928G>T (p.Gly1643Val)
c.4820G>T (p.Gly1607Val)
c.4883G>T (p.Gly1628Val)
c.4853G>T (p.Gly1618Val)
c.4925G>T (p.Gly1642Val)
3g.38551390C=CA1358557951SCN5Ac.4979G= (p.Gly1660=)
c.4982G= (p.Gly1661=)
c.4928G= (p.Gly1643=)
c.4820G= (p.Gly1607=)
c.4883G= (p.Gly1628=)
c.4853G= (p.Gly1618=)
c.4925G= (p.Gly1642=)
3g.38551390C>GCA352142845SCN5Ac.4979G>C (p.Gly1660Ala)
c.4982G>C (p.Gly1661Ala)
c.4928G>C (p.Gly1643Ala)
c.4820G>C (p.Gly1607Ala)
c.4883G>C (p.Gly1628Ala)
c.4853G>C (p.Gly1618Ala)
c.4925G>C (p.Gly1642Ala)
dbSNP
3g.38551390C>TCA352142843SCN5Ac.4979G>A (p.Gly1660Glu)
c.4982G>A (p.Gly1661Glu)
c.4928G>A (p.Gly1643Glu)
c.4820G>A (p.Gly1607Glu)
c.4883G>A (p.Gly1628Glu)
c.4853G>A (p.Gly1618Glu)
c.4925G>A (p.Gly1642Glu)
ClinVar dbSNP gnomAD v2 gnomAD v4
3g.38551391C>ACA352142846SCN5Ac.4978G>T (p.Gly1660Trp)
c.4981G>T (p.Gly1661Trp)
c.4927G>T (p.Gly1643Trp)
c.4819G>T (p.Gly1607Trp)
c.4882G>T (p.Gly1628Trp)
c.4852G>T (p.Gly1618Trp)
c.4924G>T (p.Gly1642Trp)
3g.38551391C=CA1358557956SCN5Ac.4978G= (p.Gly1660=)
c.4981G= (p.Gly1661=)
c.4927G= (p.Gly1643=)
c.4819G= (p.Gly1607=)
c.4882G= (p.Gly1628=)
c.4852G= (p.Gly1618=)
c.4924G= (p.Gly1642=)
3g.38551391C>GCA018819SCN5Ac.4978G>C (p.Gly1660Arg)
c.4981G>C (p.Gly1661Arg)
c.4927G>C (p.Gly1643Arg)
c.4819G>C (p.Gly1607Arg)
c.4882G>C (p.Gly1628Arg)
c.4852G>C (p.Gly1618Arg)
c.4924G>C (p.Gly1642Arg)
ClinVar dbSNP gnomAD v4
3g.38551391C>TCA018812SCN5Ac.4978G>A (p.Gly1660Arg)
c.4981G>A (p.Gly1661Arg)
c.4927G>A (p.Gly1643Arg)
c.4819G>A (p.Gly1607Arg)
c.4882G>A (p.Gly1628Arg)
c.4852G>A (p.Gly1618Arg)
c.4924G>A (p.Gly1642Arg)
ClinVar dbSNP gnomAD v4
3g.38551392G>ACA064043SCN5Ac.4977C>T (p.Ile1659=)
c.4980C>T (p.Ile1660=)
c.4926C>T (p.Ile1642=)
c.4818C>T (p.Ile1606=)
c.4881C>T (p.Ile1627=)
c.4851C>T (p.Ile1617=)
c.4923C>T (p.Ile1641=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
3g.38551392G>CCA352142847SCN5Ac.4977C>G (p.Ile1659Met)
c.4980C>G (p.Ile1660Met)
c.4926C>G (p.Ile1642Met)
c.4818C>G (p.Ile1606Met)
c.4881C>G (p.Ile1627Met)
c.4851C>G (p.Ile1617Met)
c.4923C>G (p.Ile1641Met)
gnomAD v4
3g.38551392G=CA1358557962SCN5Ac.4977C= (p.Ile1659=)
c.4980C= (p.Ile1660=)
c.4926C= (p.Ile1642=)
c.4818C= (p.Ile1606=)
c.4881C= (p.Ile1627=)
c.4851C= (p.Ile1617=)
c.4923C= (p.Ile1641=)
3g.38551392G>TCA433332201SCN5Ac.4977C>A (p.Ile1659=)
c.4980C>A (p.Ile1660=)
c.4926C>A (p.Ile1642=)
c.4818C>A (p.Ile1606=)
c.4881C>A (p.Ile1627=)
c.4851C>A (p.Ile1617=)
c.4923C>A (p.Ile1641=)
3g.38551393A>CCA352142848SCN5Ac.4976T>G (p.Ile1659Ser)
c.4979T>G (p.Ile1660Ser)
c.4925T>G (p.Ile1642Ser)
c.4817T>G (p.Ile1606Ser)
c.4880T>G (p.Ile1627Ser)
c.4850T>G (p.Ile1617Ser)
c.4922T>G (p.Ile1641Ser)
3g.38551393A>GCA352142849SCN5Ac.4976T>C (p.Ile1659Thr)
c.4979T>C (p.Ile1660Thr)
c.4925T>C (p.Ile1642Thr)
c.4817T>C (p.Ile1606Thr)
c.4880T>C (p.Ile1627Thr)
c.4850T>C (p.Ile1617Thr)
c.4922T>C (p.Ile1641Thr)
ClinVar
3g.38551393A>TCA352142850SCN5Ac.4976T>A (p.Ile1659Asn)
c.4979T>A (p.Ile1660Asn)
c.4925T>A (p.Ile1642Asn)
c.4817T>A (p.Ile1606Asn)
c.4880T>A (p.Ile1627Asn)
c.4850T>A (p.Ile1617Asn)
c.4922T>A (p.Ile1641Asn)
3g.38551394T>ACA352142851SCN5Ac.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)
3g.38551394T>CCA018806SCN5Ac.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
3g.38551394T>GCA352142852SCN5Ac.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)
3g.38551394T=CA1358557973SCN5Ac.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=)
3g.38551395G>ACA433332205SCN5Ac.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=)
3g.38551395G>CCA352142853SCN5Ac.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)
3g.38551395G>TCA352142854SCN5Ac.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)
3g.38551396T>ACA352142855SCN5Ac.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)
3g.38551396T>CCA352142857SCN5Ac.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
3g.38551396T>GCA352142856SCN5Ac.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)
3g.38551396T=CA1358557979SCN5Ac.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=)
3g.38551397T>ACA352142858SCN5Ac.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)
3g.38551397T>CCA72938241SCN5Ac.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
3g.38551397T>GCA352142859SCN5Ac.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)
3g.38551397T=CA1358557982SCN5Ac.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=)
3g.38551398G>ACA433332211SCN5Ac.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
3g.38551398G>CCA352142860SCN5Ac.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
3g.38551398G=CA1358557984SCN5Ac.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=)
3g.38551398G>TCA352142861SCN5Ac.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)
3g.38551399A>CCA352142862SCN5Ac.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)
3g.38551399A>GCA352142863SCN5Ac.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)
3g.38551399A>TCA352142864SCN5Ac.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
3g.38551400A>CCA352142865SCN5Ac.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)
3g.38551400A>GCA352142866SCN5Ac.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)
3g.38551400A>TCA352142867SCN5Ac.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)
3g.38551401G>ACA433332223SCN5Ac.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
3g.38551401G>CCA433332224SCN5Ac.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=)
3g.38551401G=CA1358557986SCN5Ac.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=)
3g.38551401G>TCA064033SCN5Ac.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
3g.38551402A>CCA352142870SCN5Ac.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)
3g.38551402A>GCA352142868SCN5Ac.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)
3g.38551402A>TCA352142869SCN5Ac.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)
3g.38551403G>ACA352142871SCN5Ac.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)
3g.38551403G>CCA352142872SCN5Ac.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)
3g.38551403G>TCA352142873SCN5Ac.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
3g.38551404G>ACA433332234SCN5Ac.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
3g.38551404G>CCA433332236SCN5Ac.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
3g.38551404G=CA1358557990SCN5Ac.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=)
3g.38551404G>TCA064018SCN5Ac.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
3g.38551405G>ACA352142876SCN5Ac.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
3g.38551405G>CCA352142875SCN5Ac.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)
3g.38551405G>TCA352142874SCN5Ac.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)
3g.38551406C>ACA352142877SCN5Ac.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)
3g.38551406C>GCA352142878SCN5Ac.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)
3g.38551406C>TCA352142879SCN5Ac.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)
3g.38551407A>CCA433332252SCN5Ac.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=)
3g.38551407A>GCA433332250SCN5Ac.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
3g.38551407A>TCA433332248SCN5Ac.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=)
3g.38551408G>ACA352142880SCN5Ac.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)
3g.38551408G>CCA352142881SCN5Ac.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)
3g.38551408G>TCA352142882SCN5Ac.4961C>A (p.Pro1654His)
c.4964C>A (p.Pro1655His)
c.4910C>A (p.Pro1637His)
c.4802C>A (p.Pro1601His)
c.4865C>A (p.Pro1622His)
c.4835C>A (p.Pro1612His)
c.4907C>A (p.Pro1636His)
3g.38551409G>ACA352142883SCN5Ac.4960C>T (p.Pro1654Ser)
c.4963C>T (p.Pro1655Ser)
c.4909C>T (p.Pro1637Ser)
c.4801C>T (p.Pro1601Ser)
c.4864C>T (p.Pro1622Ser)
c.4834C>T (p.Pro1612Ser)
c.4906C>T (p.Pro1636Ser)
3g.38551409G>CCA352142885SCN5Ac.4960C>G (p.Pro1654Ala)
c.4963C>G (p.Pro1655Ala)
c.4909C>G (p.Pro1637Ala)
c.4801C>G (p.Pro1601Ala)
c.4864C>G (p.Pro1622Ala)
c.4834C>G (p.Pro1612Ala)
c.4906C>G (p.Pro1636Ala)
3g.38551409G>TCA352142884SCN5Ac.4960C>A (p.Pro1654Thr)
c.4963C>A (p.Pro1655Thr)
c.4909C>A (p.Pro1637Thr)
c.4801C>A (p.Pro1601Thr)
c.4864C>A (p.Pro1622Thr)
c.4834C>A (p.Pro1612Thr)
c.4906C>A (p.Pro1636Thr)
3g.38551410C>ACA433332260SCN5Ac.4959G>T (p.Leu1653=)
c.4962G>T (p.Leu1654=)
c.4908G>T (p.Leu1636=)
c.4800G>T (p.Leu1600=)
c.4863G>T (p.Leu1621=)
c.4833G>T (p.Leu1611=)
c.4905G>T (p.Leu1635=)
3g.38551410C>GCA433332258SCN5Ac.4959G>C (p.Leu1653=)
c.4962G>C (p.Leu1654=)
c.4908G>C (p.Leu1636=)
c.4800G>C (p.Leu1600=)
c.4863G>C (p.Leu1621=)
c.4833G>C (p.Leu1611=)
c.4905G>C (p.Leu1635=)
3g.38551410C>TCA433332257SCN5Ac.4959G>A (p.Leu1653=)
c.4962G>A (p.Leu1654=)
c.4908G>A (p.Leu1636=)
c.4800G>A (p.Leu1600=)
c.4863G>A (p.Leu1621=)
c.4833G>A (p.Leu1611=)
c.4905G>A (p.Leu1635=)
3g.38551411A>CCA352142886SCN5Ac.4958T>G (p.Leu1653Arg)
c.4961T>G (p.Leu1654Arg)
c.4907T>G (p.Leu1636Arg)
c.4799T>G (p.Leu1600Arg)
c.4862T>G (p.Leu1621Arg)
c.4832T>G (p.Leu1611Arg)
c.4904T>G (p.Leu1635Arg)
3g.38551411A>GCA352142887SCN5Ac.4958T>C (p.Leu1653Pro)
c.4961T>C (p.Leu1654Pro)
c.4907T>C (p.Leu1636Pro)
c.4799T>C (p.Leu1600Pro)
c.4862T>C (p.Leu1621Pro)
c.4832T>C (p.Leu1611Pro)
c.4904T>C (p.Leu1635Pro)
3g.38551411A>TCA352142888SCN5Ac.4958T>A (p.Leu1653Gln)
c.4961T>A (p.Leu1654Gln)
c.4907T>A (p.Leu1636Gln)
c.4799T>A (p.Leu1600Gln)
c.4862T>A (p.Leu1621Gln)
c.4832T>A (p.Leu1611Gln)
c.4904T>A (p.Leu1635Gln)
3g.38551412G>ACA433332265SCN5Ac.4957C>T (p.Leu1653=)
c.4960C>T (p.Leu1654=)
c.4906C>T (p.Leu1636=)
c.4798C>T (p.Leu1600=)
c.4861C>T (p.Leu1621=)
c.4831C>T (p.Leu1611=)
c.4903C>T (p.Leu1635=)
gnomAD v4
3g.38551412G>CCA352142889SCN5Ac.4957C>G (p.Leu1653Val)
c.4960C>G (p.Leu1654Val)
c.4906C>G (p.Leu1636Val)
c.4798C>G (p.Leu1600Val)
c.4861C>G (p.Leu1621Val)
c.4831C>G (p.Leu1611Val)
c.4903C>G (p.Leu1635Val)
3g.38551412G>TCA352142890SCN5Ac.4957C>A (p.Leu1653Met)
c.4960C>A (p.Leu1654Met)
c.4906C>A (p.Leu1636Met)
c.4798C>A (p.Leu1600Met)
c.4861C>A (p.Leu1621Met)
c.4831C>A (p.Leu1611Met)
c.4903C>A (p.Leu1635Met)
3g.38551413G>ACA433332266SCN5Ac.4956C>T (p.Ser1652=)
c.4959C>T (p.Ser1653=)
c.4905C>T (p.Ser1635=)
c.4797C>T (p.Ser1599=)
c.4860C>T (p.Ser1620=)
c.4830C>T (p.Ser1610=)
c.4902C>T (p.Ser1634=)
3g.38551413G>CCA433332268SCN5Ac.4956C>G (p.Ser1652=)
c.4959C>G (p.Ser1653=)
c.4905C>G (p.Ser1635=)
c.4797C>G (p.Ser1599=)
c.4860C>G (p.Ser1620=)
c.4830C>G (p.Ser1610=)
c.4902C>G (p.Ser1634=)
3g.38551413G>TCA433332267SCN5Ac.4956C>A (p.Ser1652=)
c.4959C>A (p.Ser1653=)
c.4905C>A (p.Ser1635=)
c.4797C>A (p.Ser1599=)
c.4860C>A (p.Ser1620=)
c.4830C>A (p.Ser1610=)
c.4902C>A (p.Ser1634=)
3g.38551414G>ACA352142891SCN5Ac.4955C>T (p.Ser1652Phe)
c.4958C>T (p.Ser1653Phe)
c.4904C>T (p.Ser1635Phe)
c.4796C>T (p.Ser1599Phe)
c.4859C>T (p.Ser1620Phe)
c.4829C>T (p.Ser1610Phe)
c.4901C>T (p.Ser1634Phe)
3g.38551414G>CCA352142892SCN5Ac.4955C>G (p.Ser1652Cys)
c.4958C>G (p.Ser1653Cys)
c.4904C>G (p.Ser1635Cys)
c.4796C>G (p.Ser1599Cys)
c.4859C>G (p.Ser1620Cys)
c.4829C>G (p.Ser1610Cys)
c.4901C>G (p.Ser1634Cys)
3g.38551414G>TCA352142893SCN5Ac.4955C>A (p.Ser1652Tyr)
c.4958C>A (p.Ser1653Tyr)
c.4904C>A (p.Ser1635Tyr)
c.4796C>A (p.Ser1599Tyr)
c.4859C>A (p.Ser1620Tyr)
c.4829C>A (p.Ser1610Tyr)
c.4901C>A (p.Ser1634Tyr)
3g.38551415A>CCA352142894SCN5Ac.4954T>G (p.Ser1652Ala)
c.4957T>G (p.Ser1653Ala)
c.4903T>G (p.Ser1635Ala)
c.4795T>G (p.Ser1599Ala)
c.4858T>G (p.Ser1620Ala)
c.4828T>G (p.Ser1610Ala)
c.4900T>G (p.Ser1634Ala)
3g.38551415A>GCA352142895SCN5Ac.4954T>C (p.Ser1652Pro)
c.4957T>C (p.Ser1653Pro)
c.4903T>C (p.Ser1635Pro)
c.4795T>C (p.Ser1599Pro)
c.4858T>C (p.Ser1620Pro)
c.4828T>C (p.Ser1610Pro)
c.4900T>C (p.Ser1634Pro)
3g.38551415A>TCA352142896SCN5Ac.4954T>A (p.Ser1652Thr)
c.4957T>A (p.Ser1653Thr)
c.4903T>A (p.Ser1635Thr)
c.4795T>A (p.Ser1599Thr)
c.4858T>A (p.Ser1620Thr)
c.4828T>A (p.Ser1610Thr)
c.4900T>A (p.Ser1634Thr)
3g.38551416C>ACA352142897SCN5Ac.4953G>T (p.Met1651Ile)
c.4956G>T (p.Met1652Ile)
c.4902G>T (p.Met1634Ile)
c.4794G>T (p.Met1598Ile)
c.4857G>T (p.Met1619Ile)
c.4827G>T (p.Met1609Ile)
c.4899G>T (p.Met1633Ile)
3g.38551416C>GCA352142899SCN5Ac.4953G>C (p.Met1651Ile)
c.4956G>C (p.Met1652Ile)
c.4902G>C (p.Met1634Ile)
c.4794G>C (p.Met1598Ile)
c.4857G>C (p.Met1619Ile)
c.4827G>C (p.Met1609Ile)
c.4899G>C (p.Met1633Ile)
3g.38551416C>TCA352142898SCN5Ac.4953G>A (p.Met1651Ile)
c.4956G>A (p.Met1652Ile)
c.4902G>A (p.Met1634Ile)
c.4794G>A (p.Met1598Ile)
c.4857G>A (p.Met1619Ile)
c.4827G>A (p.Met1609Ile)
c.4899G>A (p.Met1633Ile)
ClinVar dbSNP
3g.38551417A=CA1358557997SCN5Ac.4952T= (p.Met1651=)
c.4955T= (p.Met1652=)
c.4901T= (p.Met1634=)
c.4793T= (p.Met1598=)
c.4856T= (p.Met1619=)
c.4826T= (p.Met1609=)
c.4898T= (p.Met1633=)
3g.38551417A>CCA018799SCN5Ac.4952T>G (p.Met1651Arg)
c.4955T>G (p.Met1652Arg)
c.4901T>G (p.Met1634Arg)
c.4793T>G (p.Met1598Arg)
c.4856T>G (p.Met1619Arg)
c.4826T>G (p.Met1609Arg)
c.4898T>G (p.Met1633Arg)
ClinVar dbSNP
3g.38551417A>GCA018793SCN5Ac.4952T>C (p.Met1651Thr)
c.4955T>C (p.Met1652Thr)
c.4901T>C (p.Met1634Thr)
c.4793T>C (p.Met1598Thr)
c.4856T>C (p.Met1619Thr)
c.4826T>C (p.Met1609Thr)
c.4898T>C (p.Met1633Thr)
ClinVar dbSNP
3g.38551417A>TCA352142900SCN5Ac.4952T>A (p.Met1651Lys)
c.4955T>A (p.Met1652Lys)
c.4901T>A (p.Met1634Lys)
c.4793T>A (p.Met1598Lys)
c.4856T>A (p.Met1619Lys)
c.4826T>A (p.Met1609Lys)
c.4898T>A (p.Met1633Lys)
3g.38551418T>ACA352142901SCN5Ac.4951A>T (p.Met1651Leu)
c.4954A>T (p.Met1652Leu)
c.4900A>T (p.Met1634Leu)
c.4792A>T (p.Met1598Leu)
c.4855A>T (p.Met1619Leu)
c.4825A>T (p.Met1609Leu)
c.4897A>T (p.Met1633Leu)
gnomAD v4
3g.38551418T>CCA352142902SCN5Ac.4951A>G (p.Met1651Val)
c.4954A>G (p.Met1652Val)
c.4900A>G (p.Met1634Val)
c.4792A>G (p.Met1598Val)
c.4855A>G (p.Met1619Val)
c.4825A>G (p.Met1609Val)
c.4897A>G (p.Met1633Val)
3g.38551418T>GCA352142903SCN5Ac.4951A>C (p.Met1651Leu)
c.4954A>C (p.Met1652Leu)
c.4900A>C (p.Met1634Leu)
c.4792A>C (p.Met1598Leu)
c.4855A>C (p.Met1619Leu)
c.4825A>C (p.Met1609Leu)
c.4897A>C (p.Met1633Leu)
3g.38551419C>ACA352142904SCN5Ac.4950G>T (p.Met1650Ile)
c.4953G>T (p.Met1651Ile)
c.4899G>T (p.Met1633Ile)
c.4791G>T (p.Met1597Ile)
c.4854G>T (p.Met1618Ile)
c.4824G>T (p.Met1608Ile)
c.4896G>T (p.Met1632Ile)
3g.38551419C>GCA352142905SCN5Ac.4950G>C (p.Met1650Ile)
c.4953G>C (p.Met1651Ile)
c.4899G>C (p.Met1633Ile)
c.4791G>C (p.Met1597Ile)
c.4854G>C (p.Met1618Ile)
c.4824G>C (p.Met1608Ile)
c.4896G>C (p.Met1632Ile)
3g.38551419C>TCA352142906SCN5Ac.4950G>A (p.Met1650Ile)
c.4953G>A (p.Met1651Ile)
c.4899G>A (p.Met1633Ile)
c.4791G>A (p.Met1597Ile)
c.4854G>A (p.Met1618Ile)
c.4824G>A (p.Met1608Ile)
c.4896G>A (p.Met1632Ile)
3g.38551420A>CCA352142907SCN5Ac.4949T>G (p.Met1650Arg)
c.4952T>G (p.Met1651Arg)
c.4898T>G (p.Met1633Arg)
c.4790T>G (p.Met1597Arg)
c.4853T>G (p.Met1618Arg)
c.4823T>G (p.Met1608Arg)
c.4895T>G (p.Met1632Arg)
3g.38551420A>GCA352142908SCN5Ac.4949T>C (p.Met1650Thr)
c.4952T>C (p.Met1651Thr)
c.4898T>C (p.Met1633Thr)
c.4790T>C (p.Met1597Thr)
c.4853T>C (p.Met1618Thr)
c.4823T>C (p.Met1608Thr)
c.4895T>C (p.Met1632Thr)
3g.38551420A>TCA352142909SCN5Ac.4949T>A (p.Met1650Lys)
c.4952T>A (p.Met1651Lys)
c.4898T>A (p.Met1633Lys)
c.4790T>A (p.Met1597Lys)
c.4853T>A (p.Met1618Lys)
c.4823T>A (p.Met1608Lys)
c.4895T>A (p.Met1632Lys)
3g.38551420dupCA2586965825SCN5Ac.4949dup (p.Met1650IlefsTer?)
c.4952dup (p.Met1651IlefsTer?)
c.4898dup (p.Met1633IlefsTer?)
c.4790dup (p.Met1597IlefsTer?)
c.4853dup (p.Met1618IlefsTer?)
c.4823dup (p.Met1608IlefsTer?)
c.4895dup (p.Met1632IlefsTer?)
3g.38551421T>ACA352142911SCN5Ac.4948A>T (p.Met1650Leu)
c.4951A>T (p.Met1651Leu)
c.4897A>T (p.Met1633Leu)
c.4789A>T (p.Met1597Leu)
c.4852A>T (p.Met1618Leu)
c.4822A>T (p.Met1608Leu)
c.4894A>T (p.Met1632Leu)
ClinVar dbSNP
3g.38551421T>CCA018786SCN5Ac.4948A>G (p.Met1650Val)
c.4951A>G (p.Met1651Val)
c.4897A>G (p.Met1633Val)
c.4789A>G (p.Met1597Val)
c.4852A>G (p.Met1618Val)
c.4822A>G (p.Met1608Val)
c.4894A>G (p.Met1632Val)
ClinVar dbSNP
3g.38551421T>GCA352142910SCN5Ac.4948A>C (p.Met1650Leu)
c.4951A>C (p.Met1651Leu)
c.4897A>C (p.Met1633Leu)
c.4789A>C (p.Met1597Leu)
c.4852A>C (p.Met1618Leu)
c.4822A>C (p.Met1608Leu)
c.4894A>C (p.Met1632Leu)
3g.38551421T=CA1358558002SCN5Ac.4948A= (p.Met1650=)
c.4951A= (p.Met1651=)
c.4897A= (p.Met1633=)
c.4789A= (p.Met1597=)
c.4852A= (p.Met1618=)
c.4822A= (p.Met1608=)
c.4894A= (p.Met1632=)
3g.38551422G>ACA433332292SCN5Ac.4947C>T (p.Leu1649=)
c.4950C>T (p.Leu1650=)
c.4896C>T (p.Leu1632=)
c.4788C>T (p.Leu1596=)
c.4851C>T (p.Leu1617=)
c.4821C>T (p.Leu1607=)
c.4893C>T (p.Leu1631=)
gnomAD v4 COSMIC COSMIC COSMIC
3g.38551422G>CCA433332293SCN5Ac.4947C>G (p.Leu1649=)
c.4950C>G (p.Leu1650=)
c.4896C>G (p.Leu1632=)
c.4788C>G (p.Leu1596=)
c.4851C>G (p.Leu1617=)
c.4821C>G (p.Leu1607=)
c.4893C>G (p.Leu1631=)
3g.38551422G>TCA433332295SCN5Ac.4947C>A (p.Leu1649=)
c.4950C>A (p.Leu1650=)
c.4896C>A (p.Leu1632=)
c.4788C>A (p.Leu1596=)
c.4851C>A (p.Leu1617=)
c.4821C>A (p.Leu1607=)
c.4893C>A (p.Leu1631=)
3g.38551423A>CCA352142912SCN5Ac.4946T>G (p.Leu1649Arg)
c.4949T>G (p.Leu1650Arg)
c.4895T>G (p.Leu1632Arg)
c.4787T>G (p.Leu1596Arg)
c.4850T>G (p.Leu1617Arg)
c.4820T>G (p.Leu1607Arg)
c.4892T>G (p.Leu1631Arg)
3g.38551423A>GCA352142913SCN5Ac.4946T>C (p.Leu1649Pro)
c.4949T>C (p.Leu1650Pro)
c.4895T>C (p.Leu1632Pro)
c.4787T>C (p.Leu1596Pro)
c.4850T>C (p.Leu1617Pro)
c.4820T>C (p.Leu1607Pro)
c.4892T>C (p.Leu1631Pro)
3g.38551423A>TCA352142914SCN5Ac.4946T>A (p.Leu1649His)
c.4949T>A (p.Leu1650His)
c.4895T>A (p.Leu1632His)
c.4787T>A (p.Leu1596His)
c.4850T>A (p.Leu1617His)
c.4820T>A (p.Leu1607His)
c.4892T>A (p.Leu1631His)
3g.38551424G>ACA018781SCN5Ac.4945C>T (p.Leu1649Phe)
c.4948C>T (p.Leu1650Phe)
c.4894C>T (p.Leu1632Phe)
c.4786C>T (p.Leu1596Phe)
c.4849C>T (p.Leu1617Phe)
c.4819C>T (p.Leu1607Phe)
c.4891C>T (p.Leu1631Phe)
ClinVar dbSNP
3g.38551424G>CCA352142915SCN5Ac.4945C>G (p.Leu1649Val)
c.4948C>G (p.Leu1650Val)
c.4894C>G (p.Leu1632Val)
c.4786C>G (p.Leu1596Val)
c.4849C>G (p.Leu1617Val)
c.4819C>G (p.Leu1607Val)
c.4891C>G (p.Leu1631Val)
3g.38551424G=CA1358558004SCN5Ac.4945C= (p.Leu1649=)
c.4948C= (p.Leu1650=)
c.4894C= (p.Leu1632=)
c.4786C= (p.Leu1596=)
c.4849C= (p.Leu1617=)
c.4819C= (p.Leu1607=)
c.4891C= (p.Leu1631=)
3g.38551424G>TCA352142916SCN5Ac.4945C>A (p.Leu1649Ile)
c.4948C>A (p.Leu1650Ile)
c.4894C>A (p.Leu1632Ile)
c.4786C>A (p.Leu1596Ile)
c.4849C>A (p.Leu1617Ile)
c.4819C>A (p.Leu1607Ile)
c.4891C>A (p.Leu1631Ile)
3g.38551425G>ACA433332299SCN5Ac.4944C>T (p.Ala1648=)
c.4947C>T (p.Ala1649=)
c.4893C>T (p.Ala1631=)
c.4785C>T (p.Ala1595=)
c.4848C>T (p.Ala1616=)
c.4818C>T (p.Ala1606=)
c.4890C>T (p.Ala1630=)
3g.38551425G>CCA433332300SCN5Ac.4944C>G (p.Ala1648=)
c.4947C>G (p.Ala1649=)
c.4893C>G (p.Ala1631=)
c.4785C>G (p.Ala1595=)
c.4848C>G (p.Ala1616=)
c.4818C>G (p.Ala1606=)
c.4890C>G (p.Ala1630=)
3g.38551425G>TCA433332301SCN5Ac.4944C>A (p.Ala1648=)
c.4947C>A (p.Ala1649=)
c.4893C>A (p.Ala1631=)
c.4785C>A (p.Ala1595=)
c.4848C>A (p.Ala1616=)
c.4818C>A (p.Ala1606=)
c.4890C>A (p.Ala1630=)
3g.38551426G>ACA018777SCN5Ac.4943C>T (p.Ala1648Val)
c.4946C>T (p.Ala1649Val)
c.4892C>T (p.Ala1631Val)
c.4784C>T (p.Ala1595Val)
c.4847C>T (p.Ala1616Val)
c.4817C>T (p.Ala1606Val)
c.4889C>T (p.Ala1630Val)
ClinVar dbSNP
3g.38551426G>CCA352142917SCN5Ac.4943C>G (p.Ala1648Gly)
c.4946C>G (p.Ala1649Gly)
c.4892C>G (p.Ala1631Gly)
c.4784C>G (p.Ala1595Gly)
c.4847C>G (p.Ala1616Gly)
c.4817C>G (p.Ala1606Gly)
c.4889C>G (p.Ala1630Gly)
3g.38551426G=CA1358558006SCN5Ac.4943C= (p.Ala1648=)
c.4946C= (p.Ala1649=)
c.4892C= (p.Ala1631=)
c.4784C= (p.Ala1595=)
c.4847C= (p.Ala1616=)
c.4817C= (p.Ala1606=)
c.4889C= (p.Ala1630=)
3g.38551426G>TCA352142918SCN5Ac.4943C>A (p.Ala1648Asp)
c.4946C>A (p.Ala1649Asp)
c.4892C>A (p.Ala1631Asp)
c.4784C>A (p.Ala1595Asp)
c.4847C>A (p.Ala1616Asp)
c.4817C>A (p.Ala1606Asp)
c.4889C>A (p.Ala1630Asp)
3g.38551427C>ACA352142919SCN5Ac.4942G>T (p.Ala1648Ser)
c.4945G>T (p.Ala1649Ser)
c.4891G>T (p.Ala1631Ser)
c.4783G>T (p.Ala1595Ser)
c.4846G>T (p.Ala1616Ser)
c.4816G>T (p.Ala1606Ser)
c.4888G>T (p.Ala1630Ser)
3g.38551427C=CA1358558011SCN5Ac.4942G= (p.Ala1648=)
c.4945G= (p.Ala1649=)
c.4891G= (p.Ala1631=)
c.4783G= (p.Ala1595=)
c.4846G= (p.Ala1616=)
c.4816G= (p.Ala1606=)
c.4888G= (p.Ala1630=)
3g.38551427C>GCA352142920SCN5Ac.4942G>C (p.Ala1648Pro)
c.4945G>C (p.Ala1649Pro)
c.4891G>C (p.Ala1631Pro)
c.4783G>C (p.Ala1595Pro)
c.4846G>C (p.Ala1616Pro)
c.4816G>C (p.Ala1606Pro)
c.4888G>C (p.Ala1630Pro)
dbSNP
3g.38551427C>TCA352142921SCN5Ac.4942G>A (p.Ala1648Thr)
c.4945G>A (p.Ala1649Thr)
c.4891G>A (p.Ala1631Thr)
c.4783G>A (p.Ala1595Thr)
c.4846G>A (p.Ala1616Thr)
c.4816G>A (p.Ala1606Thr)
c.4888G>A (p.Ala1630Thr)
3g.38551428A>CCA352142923SCN5Ac.4941T>G (p.Phe1647Leu)
c.4944T>G (p.Phe1648Leu)
c.4890T>G (p.Phe1630Leu)
c.4782T>G (p.Phe1594Leu)
c.4845T>G (p.Phe1615Leu)
c.4815T>G (p.Phe1605Leu)
c.4887T>G (p.Phe1629Leu)
3g.38551428A>GCA433134227SCN5Ac.4941T>C (p.Phe1647=)
c.4944T>C (p.Phe1648=)
c.4890T>C (p.Phe1630=)
c.4782T>C (p.Phe1594=)
c.4845T>C (p.Phe1615=)
c.4815T>C (p.Phe1605=)
c.4887T>C (p.Phe1629=)
ClinVar
3g.38551428A>TCA352142922SCN5Ac.4941T>A (p.Phe1647Leu)
c.4944T>A (p.Phe1648Leu)
c.4890T>A (p.Phe1630Leu)
c.4782T>A (p.Phe1594Leu)
c.4845T>A (p.Phe1615Leu)
c.4815T>A (p.Phe1605Leu)
c.4887T>A (p.Phe1629Leu)
3g.38551429A>CCA352142924SCN5Ac.4940T>G (p.Phe1647Cys)
c.4943T>G (p.Phe1648Cys)
c.4889T>G (p.Phe1630Cys)
c.4781T>G (p.Phe1594Cys)
c.4844T>G (p.Phe1615Cys)
c.4814T>G (p.Phe1605Cys)
c.4886T>G (p.Phe1629Cys)
COSMIC COSMIC COSMIC
3g.38551429A>GCA352142926SCN5Ac.4940T>C (p.Phe1647Ser)
c.4943T>C (p.Phe1648Ser)
c.4889T>C (p.Phe1630Ser)
c.4781T>C (p.Phe1594Ser)
c.4844T>C (p.Phe1615Ser)
c.4814T>C (p.Phe1605Ser)
c.4886T>C (p.Phe1629Ser)
3g.38551429A>TCA352142925SCN5Ac.4940T>A (p.Phe1647Tyr)
c.4943T>A (p.Phe1648Tyr)
c.4889T>A (p.Phe1630Tyr)
c.4781T>A (p.Phe1594Tyr)
c.4844T>A (p.Phe1615Tyr)
c.4814T>A (p.Phe1605Tyr)
c.4886T>A (p.Phe1629Tyr)
3g.38551430A>CCA352142927SCN5Ac.4939T>G (p.Phe1647Val)
c.4942T>G (p.Phe1648Val)
c.4888T>G (p.Phe1630Val)
c.4780T>G (p.Phe1594Val)
c.4843T>G (p.Phe1615Val)
c.4813T>G (p.Phe1605Val)
c.4885T>G (p.Phe1629Val)
3g.38551430A>GCA352142929SCN5Ac.4939T>C (p.Phe1647Leu)
c.4942T>C (p.Phe1648Leu)
c.4888T>C (p.Phe1630Leu)
c.4780T>C (p.Phe1594Leu)
c.4843T>C (p.Phe1615Leu)
c.4813T>C (p.Phe1605Leu)
c.4885T>C (p.Phe1629Leu)
3g.38551430A>TCA352142928SCN5Ac.4939T>A (p.Phe1647Ile)
c.4942T>A (p.Phe1648Ile)
c.4888T>A (p.Phe1630Ile)
c.4780T>A (p.Phe1594Ile)
c.4843T>A (p.Phe1615Ile)
c.4813T>A (p.Phe1605Ile)
c.4885T>A (p.Phe1629Ile)
3g.38551431G>ACA433134228SCN5Ac.4938C>T (p.Leu1646=)
c.4941C>T (p.Leu1647=)
c.4887C>T (p.Leu1629=)
c.4779C>T (p.Leu1593=)
c.4842C>T (p.Leu1614=)
c.4812C>T (p.Leu1604=)
c.4884C>T (p.Leu1628=)
ClinVar dbSNP gnomAD v4
3g.38551431G>CCA433134229SCN5Ac.4938C>G (p.Leu1646=)
c.4941C>G (p.Leu1647=)
c.4887C>G (p.Leu1629=)
c.4779C>G (p.Leu1593=)
c.4842C>G (p.Leu1614=)
c.4812C>G (p.Leu1604=)
c.4884C>G (p.Leu1628=)
ClinVar dbSNP
3g.38551431G>TCA433134230SCN5Ac.4938C>A (p.Leu1646=)
c.4941C>A (p.Leu1647=)
c.4887C>A (p.Leu1629=)
c.4779C>A (p.Leu1593=)
c.4842C>A (p.Leu1614=)
c.4812C>A (p.Leu1604=)
c.4884C>A (p.Leu1628=)
3g.38551432A=CA1358558015SCN5Ac.4937T= (p.Leu1646=)
c.4940T= (p.Leu1647=)
c.4886T= (p.Leu1629=)
c.4778T= (p.Leu1593=)
c.4841T= (p.Leu1614=)
c.4811T= (p.Leu1604=)
c.4883T= (p.Leu1628=)
3g.38551432A>CCA352142930SCN5Ac.4937T>G (p.Leu1646Arg)
c.4940T>G (p.Leu1647Arg)
c.4886T>G (p.Leu1629Arg)
c.4778T>G (p.Leu1593Arg)
c.4841T>G (p.Leu1614Arg)
c.4811T>G (p.Leu1604Arg)
c.4883T>G (p.Leu1628Arg)
3g.38551432A>GCA16616905SCN5Ac.4937T>C (p.Leu1646Pro)
c.4940T>C (p.Leu1647Pro)
c.4886T>C (p.Leu1629Pro)
c.4778T>C (p.Leu1593Pro)
c.4841T>C (p.Leu1614Pro)
c.4811T>C (p.Leu1604Pro)
c.4883T>C (p.Leu1628Pro)
ClinVar dbSNP
3g.38551432A>TCA352142931SCN5Ac.4937T>A (p.Leu1646His)
c.4940T>A (p.Leu1647His)
c.4886T>A (p.Leu1629His)
c.4778T>A (p.Leu1593His)
c.4841T>A (p.Leu1614His)
c.4811T>A (p.Leu1604His)
c.4883T>A (p.Leu1628His)
3g.38551433G>ACA352142932SCN5Ac.4936C>T (p.Leu1646Phe)
c.4939C>T (p.Leu1647Phe)
c.4885C>T (p.Leu1629Phe)
c.4777C>T (p.Leu1593Phe)
c.4840C>T (p.Leu1614Phe)
c.4810C>T (p.Leu1604Phe)
c.4882C>T (p.Leu1628Phe)
ClinVar dbSNP
3g.38551433G>CCA352142933SCN5Ac.4936C>G (p.Leu1646Val)
c.4939C>G (p.Leu1647Val)
c.4885C>G (p.Leu1629Val)
c.4777C>G (p.Leu1593Val)
c.4840C>G (p.Leu1614Val)
c.4810C>G (p.Leu1604Val)
c.4882C>G (p.Leu1628Val)
3g.38551433G=CA1358558021SCN5Ac.4936C= (p.Leu1646=)
c.4939C= (p.Leu1647=)
c.4885C= (p.Leu1629=)
c.4777C= (p.Leu1593=)
c.4840C= (p.Leu1614=)
c.4810C= (p.Leu1604=)
c.4882C= (p.Leu1628=)
3g.38551433G>TCA352142934SCN5Ac.4936C>A (p.Leu1646Ile)
c.4939C>A (p.Leu1647Ile)
c.4885C>A (p.Leu1629Ile)
c.4777C>A (p.Leu1593Ile)
c.4840C>A (p.Leu1614Ile)
c.4810C>A (p.Leu1604Ile)
c.4882C>A (p.Leu1628Ile)
3g.38551434C>ACA433134232SCN5Ac.4935G>T (p.Leu1645=)
c.4938G>T (p.Leu1646=)
c.4884G>T (p.Leu1628=)
c.4776G>T (p.Leu1592=)
c.4839G>T (p.Leu1613=)
c.4809G>T (p.Leu1603=)
c.4881G>T (p.Leu1627=)
3g.38551434C=CA1358558023SCN5Ac.4935G= (p.Leu1645=)
c.4938G= (p.Leu1646=)
c.4884G= (p.Leu1628=)
c.4776G= (p.Leu1592=)
c.4839G= (p.Leu1613=)
c.4809G= (p.Leu1603=)
c.4881G= (p.Leu1627=)
3g.38551434C>GCA063999SCN5Ac.4935G>C (p.Leu1645=)
c.4938G>C (p.Leu1646=)
c.4884G>C (p.Leu1628=)
c.4776G>C (p.Leu1592=)
c.4839G>C (p.Leu1613=)
c.4809G>C (p.Leu1603=)
c.4881G>C (p.Leu1627=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.38551434C>TCA433134231SCN5Ac.4935G>A (p.Leu1645=)
c.4938G>A (p.Leu1646=)
c.4884G>A (p.Leu1628=)
c.4776G>A (p.Leu1592=)
c.4839G>A (p.Leu1613=)
c.4809G>A (p.Leu1603=)
c.4881G>A (p.Leu1627=)
ClinVar dbSNP gnomAD v4
3g.38551435A>CCA352142935SCN5Ac.4934T>G (p.Leu1645Arg)
c.4937T>G (p.Leu1646Arg)
c.4883T>G (p.Leu1628Arg)
c.4775T>G (p.Leu1592Arg)
c.4838T>G (p.Leu1613Arg)
c.4808T>G (p.Leu1603Arg)
c.4880T>G (p.Leu1627Arg)
3g.38551435A>GCA352142936SCN5Ac.4934T>C (p.Leu1645Pro)
c.4937T>C (p.Leu1646Pro)
c.4883T>C (p.Leu1628Pro)
c.4775T>C (p.Leu1592Pro)
c.4838T>C (p.Leu1613Pro)
c.4808T>C (p.Leu1603Pro)
c.4880T>C (p.Leu1627Pro)
3g.38551435A>TCA352142937SCN5Ac.4934T>A (p.Leu1645Gln)
c.4937T>A (p.Leu1646Gln)
c.4883T>A (p.Leu1628Gln)
c.4775T>A (p.Leu1592Gln)
c.4838T>A (p.Leu1613Gln)
c.4808T>A (p.Leu1603Gln)
c.4880T>A (p.Leu1627Gln)
3g.38551436G>ACA433134233SCN5Ac.4933C>T (p.Leu1645=)
c.4936C>T (p.Leu1646=)
c.4882C>T (p.Leu1628=)
c.4774C>T (p.Leu1592=)
c.4837C>T (p.Leu1613=)
c.4807C>T (p.Leu1603=)
c.4879C>T (p.Leu1627=)
3g.38551436G>CCA352142939SCN5Ac.4933C>G (p.Leu1645Val)
c.4936C>G (p.Leu1646Val)
c.4882C>G (p.Leu1628Val)
c.4774C>G (p.Leu1592Val)
c.4837C>G (p.Leu1613Val)
c.4807C>G (p.Leu1603Val)
c.4879C>G (p.Leu1627Val)
3g.38551436G>TCA352142938SCN5Ac.4933C>A (p.Leu1645Met)
c.4936C>A (p.Leu1646Met)
c.4882C>A (p.Leu1628Met)
c.4774C>A (p.Leu1592Met)
c.4837C>A (p.Leu1613Met)
c.4807C>A (p.Leu1603Met)
c.4879C>A (p.Leu1627Met)
3g.38551437C>ACA433134234SCN5Ac.4932G>T (p.Thr1644=)
c.4935G>T (p.Thr1645=)
c.4881G>T (p.Thr1627=)
c.4773G>T (p.Thr1591=)
c.4836G>T (p.Thr1612=)
c.4806G>T (p.Thr1602=)
c.4878G>T (p.Thr1626=)
ClinVar gnomAD v4
3g.38551437C=CA1358558026SCN5Ac.4932G= (p.Thr1644=)
c.4935G= (p.Thr1645=)
c.4881G= (p.Thr1627=)
c.4773G= (p.Thr1591=)
c.4836G= (p.Thr1612=)
c.4806G= (p.Thr1602=)
c.4878G= (p.Thr1626=)
3g.38551437C>GCA433134235SCN5Ac.4932G>C (p.Thr1644=)
c.4935G>C (p.Thr1645=)
c.4881G>C (p.Thr1627=)
c.4773G>C (p.Thr1591=)
c.4836G>C (p.Thr1612=)
c.4806G>C (p.Thr1602=)
c.4878G>C (p.Thr1626=)
3g.38551437C>TCA018771SCN5Ac.4932G>A (p.Thr1644=)
c.4935G>A (p.Thr1645=)
c.4881G>A (p.Thr1627=)
c.4773G>A (p.Thr1591=)
c.4836G>A (p.Thr1612=)
c.4806G>A (p.Thr1602=)
c.4878G>A (p.Thr1626=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38551438G>ACA018766SCN5Ac.4931C>T (p.Thr1644Met)
c.4934C>T (p.Thr1645Met)
c.4880C>T (p.Thr1627Met)
c.4772C>T (p.Thr1591Met)
c.4835C>T (p.Thr1612Met)
c.4805C>T (p.Thr1602Met)
c.4877C>T (p.Thr1626Met)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38551438G>CCA352142940SCN5Ac.4931C>G (p.Thr1644Arg)
c.4934C>G (p.Thr1645Arg)
c.4880C>G (p.Thr1627Arg)
c.4772C>G (p.Thr1591Arg)
c.4835C>G (p.Thr1612Arg)
c.4805C>G (p.Thr1602Arg)
c.4877C>G (p.Thr1626Arg)
3g.38551438G=CA1358558036SCN5Ac.4931C= (p.Thr1644=)
c.4934C= (p.Thr1645=)
c.4880C= (p.Thr1627=)
c.4772C= (p.Thr1591=)
c.4835C= (p.Thr1612=)
c.4805C= (p.Thr1602=)
c.4877C= (p.Thr1626=)
3g.38551438G>TCA352142941SCN5Ac.4931C>A (p.Thr1644Lys)
c.4934C>A (p.Thr1645Lys)
c.4880C>A (p.Thr1627Lys)
c.4772C>A (p.Thr1591Lys)
c.4835C>A (p.Thr1612Lys)
c.4805C>A (p.Thr1602Lys)
c.4877C>A (p.Thr1626Lys)
dbSNP
3g.38551439T>ACA352142942SCN5Ac.4930A>T (p.Thr1644Ser)
c.4933A>T (p.Thr1645Ser)
c.4879A>T (p.Thr1627Ser)
c.4771A>T (p.Thr1591Ser)
c.4834A>T (p.Thr1612Ser)
c.4804A>T (p.Thr1602Ser)
c.4876A>T (p.Thr1626Ser)
3g.38551439T>CCA352142943SCN5Ac.4930A>G (p.Thr1644Ala)
c.4933A>G (p.Thr1645Ala)
c.4879A>G (p.Thr1627Ala)
c.4771A>G (p.Thr1591Ala)
c.4834A>G (p.Thr1612Ala)
c.4804A>G (p.Thr1602Ala)
c.4876A>G (p.Thr1626Ala)
dbSNP
3g.38551439T>GCA352142944SCN5Ac.4930A>C (p.Thr1644Pro)
c.4933A>C (p.Thr1645Pro)
c.4879A>C (p.Thr1627Pro)
c.4771A>C (p.Thr1591Pro)
c.4834A>C (p.Thr1612Pro)
c.4804A>C (p.Thr1602Pro)
c.4876A>C (p.Thr1626Pro)
3g.38551439T=CA1358558038SCN5Ac.4930A= (p.Thr1644=)
c.4933A= (p.Thr1645=)
c.4879A= (p.Thr1627=)
c.4771A= (p.Thr1591=)
c.4834A= (p.Thr1612=)
c.4804A= (p.Thr1602=)
c.4876A= (p.Thr1626=)
3g.38551440G>ACA063977SCN5Ac.4929C>T (p.Arg1643=)
c.4932C>T (p.Arg1644=)
c.4878C>T (p.Arg1626=)
c.4770C>T (p.Arg1590=)
c.4833C>T (p.Arg1611=)
c.4803C>T (p.Arg1601=)
c.4875C>T (p.Arg1625=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38551440G>CCA433134237SCN5Ac.4929C>G (p.Arg1643=)
c.4932C>G (p.Arg1644=)
c.4878C>G (p.Arg1626=)
c.4770C>G (p.Arg1590=)
c.4833C>G (p.Arg1611=)
c.4803C>G (p.Arg1601=)
c.4875C>G (p.Arg1625=)
3g.38551440G=CA1358558042SCN5Ac.4929C= (p.Arg1643=)
c.4932C= (p.Arg1644=)
c.4878C= (p.Arg1626=)
c.4770C= (p.Arg1590=)
c.4833C= (p.Arg1611=)
c.4803C= (p.Arg1601=)
c.4875C= (p.Arg1625=)
3g.38551440G>TCA433134236SCN5Ac.4929C>A (p.Arg1643=)
c.4932C>A (p.Arg1644=)
c.4878C>A (p.Arg1626=)
c.4770C>A (p.Arg1590=)
c.4833C>A (p.Arg1611=)
c.4803C>A (p.Arg1601=)
c.4875C>A (p.Arg1625=)
3g.38551441C>ACA063970SCN5Ac.4928G>T (p.Arg1643Leu)
c.4931G>T (p.Arg1644Leu)
c.4877G>T (p.Arg1626Leu)
c.4769G>T (p.Arg1590Leu)
c.4832G>T (p.Arg1611Leu)
c.4802G>T (p.Arg1601Leu)
c.4874G>T (p.Arg1625Leu)
dbSNP ExAC gnomAD v2 gnomAD v4
3g.38551441C=CA1358558048SCN5Ac.4928G= (p.Arg1643=)
c.4931G= (p.Arg1644=)
c.4877G= (p.Arg1626=)
c.4769G= (p.Arg1590=)
c.4832G= (p.Arg1611=)
c.4802G= (p.Arg1601=)
c.4874G= (p.Arg1625=)
3g.38551441C>GCA352142945SCN5Ac.4928G>C (p.Arg1643Pro)
c.4931G>C (p.Arg1644Pro)
c.4877G>C (p.Arg1626Pro)
c.4769G>C (p.Arg1590Pro)
c.4832G>C (p.Arg1611Pro)
c.4802G>C (p.Arg1601Pro)
c.4874G>C (p.Arg1625Pro)
3g.38551441C>TCA018760SCN5Ac.4928G>A (p.Arg1643His)
c.4931G>A (p.Arg1644His)
c.4877G>A (p.Arg1626His)
c.4769G>A (p.Arg1590His)
c.4832G>A (p.Arg1611His)
c.4802G>A (p.Arg1601His)
c.4874G>A (p.Arg1625His)
ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
3g.38551442G>ACA018754SCN5Ac.4927C>T (p.Arg1643Cys)
c.4930C>T (p.Arg1644Cys)
c.4876C>T (p.Arg1626Cys)
c.4768C>T (p.Arg1590Cys)
c.4831C>T (p.Arg1611Cys)
c.4801C>T (p.Arg1601Cys)
c.4873C>T (p.Arg1625Cys)
ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC
3g.38551442G>CCA352142947SCN5Ac.4927C>G (p.Arg1643Gly)
c.4930C>G (p.Arg1644Gly)
c.4876C>G (p.Arg1626Gly)
c.4768C>G (p.Arg1590Gly)
c.4831C>G (p.Arg1611Gly)
c.4801C>G (p.Arg1601Gly)
c.4873C>G (p.Arg1625Gly)
ClinVar dbSNP
3g.38551442G=CA1358558055SCN5Ac.4927C= (p.Arg1643=)
c.4930C= (p.Arg1644=)
c.4876C= (p.Arg1626=)
c.4768C= (p.Arg1590=)
c.4831C= (p.Arg1611=)
c.4801C= (p.Arg1601=)
c.4873C= (p.Arg1625=)
3g.38551442G>TCA352142946SCN5Ac.4927C>A (p.Arg1643Ser)
c.4930C>A (p.Arg1644Ser)
c.4876C>A (p.Arg1626Ser)
c.4768C>A (p.Arg1590Ser)
c.4831C>A (p.Arg1611Ser)
c.4801C>A (p.Arg1601Ser)
c.4873C>A (p.Arg1625Ser)
3g.38551443G>ACA433134238SCN5Ac.4926C>T (p.Ile1642=)
c.4929C>T (p.Ile1643=)
c.4875C>T (p.Ile1625=)
c.4767C>T (p.Ile1589=)
c.4830C>T (p.Ile1610=)
c.4800C>T (p.Ile1600=)
c.4872C>T (p.Ile1624=)
3g.38551443G>CCA352142948SCN5Ac.4926C>G (p.Ile1642Met)
c.4929C>G (p.Ile1643Met)
c.4875C>G (p.Ile1625Met)
c.4767C>G (p.Ile1589Met)
c.4830C>G (p.Ile1610Met)
c.4800C>G (p.Ile1600Met)
c.4872C>G (p.Ile1624Met)
3g.38551443G=CA1358558064SCN5Ac.4926C= (p.Ile1642=)
c.4929C= (p.Ile1643=)
c.4875C= (p.Ile1625=)
c.4767C= (p.Ile1589=)
c.4830C= (p.Ile1610=)
c.4800C= (p.Ile1600=)
c.4872C= (p.Ile1624=)
3g.38551443G>TCA72938298SCN5Ac.4926C>A (p.Ile1642=)
c.4929C>A (p.Ile1643=)
c.4875C>A (p.Ile1625=)
c.4767C>A (p.Ile1589=)
c.4830C>A (p.Ile1610=)
c.4800C>A (p.Ile1600=)
c.4872C>A (p.Ile1624=)
ClinVar dbSNP gnomAD v3 gnomAD v4
3g.38551444A>CCA352142949SCN5Ac.4925T>G (p.Ile1642Ser)
c.4928T>G (p.Ile1643Ser)
c.4874T>G (p.Ile1625Ser)
c.4766T>G (p.Ile1589Ser)
c.4829T>G (p.Ile1610Ser)
c.4799T>G (p.Ile1600Ser)
c.4871T>G (p.Ile1624Ser)
3g.38551444A>GCA352142950SCN5Ac.4925T>C (p.Ile1642Thr)
c.4928T>C (p.Ile1643Thr)
c.4874T>C (p.Ile1625Thr)
c.4766T>C (p.Ile1589Thr)
c.4829T>C (p.Ile1610Thr)
c.4799T>C (p.Ile1600Thr)
c.4871T>C (p.Ile1624Thr)
3g.38551444A>TCA352142951SCN5Ac.4925T>A (p.Ile1642Asn)
c.4928T>A (p.Ile1643Asn)
c.4874T>A (p.Ile1625Asn)
c.4766T>A (p.Ile1589Asn)
c.4829T>A (p.Ile1610Asn)
c.4799T>A (p.Ile1600Asn)
c.4871T>A (p.Ile1624Asn)
3g.38551445T>ACA352142952SCN5Ac.4924A>T (p.Ile1642Phe)
c.4927A>T (p.Ile1643Phe)
c.4873A>T (p.Ile1625Phe)
c.4765A>T (p.Ile1589Phe)
c.4828A>T (p.Ile1610Phe)
c.4798A>T (p.Ile1600Phe)
c.4870A>T (p.Ile1624Phe)
3g.38551445T>CCA352142953SCN5Ac.4924A>G (p.Ile1642Val)
c.4927A>G (p.Ile1643Val)
c.4873A>G (p.Ile1625Val)
c.4765A>G (p.Ile1589Val)
c.4828A>G (p.Ile1610Val)
c.4798A>G (p.Ile1600Val)
c.4870A>G (p.Ile1624Val)
3g.38551445T>GCA10577318SCN5Ac.4924A>C (p.Ile1642Leu)
c.4927A>C (p.Ile1643Leu)
c.4873A>C (p.Ile1625Leu)
c.4765A>C (p.Ile1589Leu)
c.4828A>C (p.Ile1610Leu)
c.4798A>C (p.Ile1600Leu)
c.4870A>C (p.Ile1624Leu)
ClinVar dbSNP gnomAD v2 gnomAD v4
3g.38551445T=CA1358558071SCN5Ac.4924A= (p.Ile1642=)
c.4927A= (p.Ile1643=)
c.4873A= (p.Ile1625=)
c.4765A= (p.Ile1589=)
c.4828A= (p.Ile1610=)
c.4798A= (p.Ile1600=)
c.4870A= (p.Ile1624=)
3g.38551446C>ACA72938304SCN5Ac.4923G>T (p.Gly1641=)
c.4926G>T (p.Gly1642=)
c.4872G>T (p.Gly1624=)
c.4764G>T (p.Gly1588=)
c.4827G>T (p.Gly1609=)
c.4797G>T (p.Gly1599=)
c.4869G>T (p.Gly1623=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.38551446C=CA1358558079SCN5Ac.4923G= (p.Gly1641=)
c.4926G= (p.Gly1642=)
c.4872G= (p.Gly1624=)
c.4764G= (p.Gly1588=)
c.4827G= (p.Gly1609=)
c.4797G= (p.Gly1599=)
c.4869G= (p.Gly1623=)
3g.38551446C>GCA433134239SCN5Ac.4923G>C (p.Gly1641=)
c.4926G>C (p.Gly1642=)
c.4872G>C (p.Gly1624=)
c.4764G>C (p.Gly1588=)
c.4827G>C (p.Gly1609=)
c.4797G>C (p.Gly1599=)
c.4869G>C (p.Gly1623=)
ClinVar dbSNP gnomAD v4
3g.38551446C>TCA433134240SCN5Ac.4923G>A (p.Gly1641=)
c.4926G>A (p.Gly1642=)
c.4872G>A (p.Gly1624=)
c.4764G>A (p.Gly1588=)
c.4827G>A (p.Gly1609=)
c.4797G>A (p.Gly1599=)
c.4869G>A (p.Gly1623=)
gnomAD v4
3g.38551449dupCA645535368SCN5Ac.4923dup (p.Ile1642AspfsTer?)
c.4926dup (p.Ile1643AspfsTer?)
c.4872dup (p.Ile1625AspfsTer?)
c.4764dup (p.Ile1589AspfsTer?)
c.4827dup (p.Ile1610AspfsTer?)
c.4797dup (p.Ile1600AspfsTer?)
c.4869dup (p.Ile1624AspfsTer?)
COSMIC COSMIC COSMIC
3g.38551446_38551447insGCA433134241SCN5Ac.4922_4923insC (p.Ile1642AspfsTer?)
c.4925_4926insC (p.Ile1643AspfsTer?)
c.4871_4872insC (p.Ile1625AspfsTer?)
c.4763_4764insC (p.Ile1589AspfsTer?)
c.4826_4827insC (p.Ile1610AspfsTer?)
c.4796_4797insC (p.Ile1600AspfsTer?)
c.4868_4869insC (p.Ile1624AspfsTer?)
3g.38551447C>ACA352142954SCN5Ac.4922G>T (p.Gly1641Val)
c.4925G>T (p.Gly1642Val)
c.4871G>T (p.Gly1624Val)
c.4763G>T (p.Gly1588Val)
c.4826G>T (p.Gly1609Val)
c.4796G>T (p.Gly1599Val)
c.4868G>T (p.Gly1623Val)
3g.38551447C=CA1358558085SCN5Ac.4922G= (p.Gly1641=)
c.4925G= (p.Gly1642=)
c.4871G= (p.Gly1624=)
c.4763G= (p.Gly1588=)
c.4826G= (p.Gly1609=)
c.4796G= (p.Gly1599=)
c.4868G= (p.Gly1623=)
3g.38551447C>GCA352142955SCN5Ac.4922G>C (p.Gly1641Ala)
c.4925G>C (p.Gly1642Ala)
c.4871G>C (p.Gly1624Ala)
c.4763G>C (p.Gly1588Ala)
c.4826G>C (p.Gly1609Ala)
c.4796G>C (p.Gly1599Ala)
c.4868G>C (p.Gly1623Ala)
3g.38551447C>TCA018747SCN5Ac.4922G>A (p.Gly1641Glu)
c.4925G>A (p.Gly1642Glu)
c.4871G>A (p.Gly1624Glu)
c.4763G>A (p.Gly1588Glu)
c.4826G>A (p.Gly1609Glu)
c.4796G>A (p.Gly1599Glu)
c.4868G>A (p.Gly1623Glu)
ClinVar dbSNP gnomAD v4 COSMIC COSMIC COSMIC
3g.38551448C>ACA352142957SCN5Ac.4921G>T (p.Gly1641Trp)
c.4924G>T (p.Gly1642Trp)
c.4870G>T (p.Gly1624Trp)
c.4762G>T (p.Gly1588Trp)
c.4825G>T (p.Gly1609Trp)
c.4795G>T (p.Gly1599Trp)
c.4867G>T (p.Gly1623Trp)
3g.38551448C>GCA352142958SCN5Ac.4921G>C (p.Gly1641Arg)
c.4924G>C (p.Gly1642Arg)
c.4870G>C (p.Gly1624Arg)
c.4762G>C (p.Gly1588Arg)
c.4825G>C (p.Gly1609Arg)
c.4795G>C (p.Gly1599Arg)
c.4867G>C (p.Gly1623Arg)
3g.38551448C>TCA352142956SCN5Ac.4921G>A (p.Gly1641Arg)
c.4924G>A (p.Gly1642Arg)
c.4870G>A (p.Gly1624Arg)
c.4762G>A (p.Gly1588Arg)
c.4825G>A (p.Gly1609Arg)
c.4795G>A (p.Gly1599Arg)
c.4867G>A (p.Gly1623Arg)
3g.38551449C>ACA352142959SCN5Ac.4920G>T (p.Lys1640Asn)
c.4923G>T (p.Lys1641Asn)
c.4869G>T (p.Lys1623Asn)
c.4761G>T (p.Lys1587Asn)
c.4824G>T (p.Lys1608Asn)
c.4794G>T (p.Lys1598Asn)
c.4866G>T (p.Lys1622Asn)
3g.38551449C>GCA352142960SCN5Ac.4920G>C (p.Lys1640Asn)
c.4923G>C (p.Lys1641Asn)
c.4869G>C (p.Lys1623Asn)
c.4761G>C (p.Lys1587Asn)
c.4824G>C (p.Lys1608Asn)
c.4794G>C (p.Lys1598Asn)
c.4866G>C (p.Lys1622Asn)
3g.38551449C>TCA433134242SCN5Ac.4920G>A (p.Lys1640=)
c.4923G>A (p.Lys1641=)
c.4869G>A (p.Lys1623=)
c.4761G>A (p.Lys1587=)
c.4824G>A (p.Lys1608=)
c.4794G>A (p.Lys1598=)
c.4866G>A (p.Lys1622=)
gnomAD v4
3g.38551450T>ACA352142961SCN5Ac.4919A>T (p.Lys1640Met)
c.4922A>T (p.Lys1641Met)
c.4868A>T (p.Lys1623Met)
c.4760A>T (p.Lys1587Met)
c.4823A>T (p.Lys1608Met)
c.4793A>T (p.Lys1598Met)
c.4865A>T (p.Lys1622Met)
gnomAD v4
3g.38551450T>CCA352142962SCN5Ac.4919A>G (p.Lys1640Arg)
c.4922A>G (p.Lys1641Arg)
c.4868A>G (p.Lys1623Arg)
c.4760A>G (p.Lys1587Arg)
c.4823A>G (p.Lys1608Arg)
c.4793A>G (p.Lys1598Arg)
c.4865A>G (p.Lys1622Arg)
ClinVar gnomAD v4
3g.38551450T>GCA352142963SCN5Ac.4919A>C (p.Lys1640Thr)
c.4922A>C (p.Lys1641Thr)
c.4868A>C (p.Lys1623Thr)
c.4760A>C (p.Lys1587Thr)
c.4823A>C (p.Lys1608Thr)
c.4793A>C (p.Lys1598Thr)
c.4865A>C (p.Lys1622Thr)
3g.38551451T>ACA352142966SCN5Ac.4918A>T (p.Lys1640Ter)
c.4921A>T (p.Lys1641Ter)
c.4867A>T (p.Lys1623Ter)
c.4759A>T (p.Lys1587Ter)
c.4822A>T (p.Lys1608Ter)
c.4792A>T (p.Lys1598Ter)
c.4864A>T (p.Lys1622Ter)
3g.38551451T>CCA352142964SCN5Ac.4918A>G (p.Lys1640Glu)
c.4921A>G (p.Lys1641Glu)
c.4867A>G (p.Lys1623Glu)
c.4759A>G (p.Lys1587Glu)
c.4822A>G (p.Lys1608Glu)
c.4792A>G (p.Lys1598Glu)
c.4864A>G (p.Lys1622Glu)
3g.38551451T>GCA352142965SCN5Ac.4918A>C (p.Lys1640Gln)
c.4921A>C (p.Lys1641Gln)
c.4867A>C (p.Lys1623Gln)
c.4759A>C (p.Lys1587Gln)
c.4822A>C (p.Lys1608Gln)
c.4792A>C (p.Lys1598Gln)
c.4864A>C (p.Lys1622Gln)
3g.38551452G>ACA433134243SCN5Ac.4917C>T (p.Ala1639=)
c.4920C>T (p.Ala1640=)
c.4866C>T (p.Ala1622=)
c.4758C>T (p.Ala1586=)
c.4821C>T (p.Ala1607=)
c.4791C>T (p.Ala1597=)
c.4863C>T (p.Ala1621=)
ClinVar dbSNP gnomAD v2 gnomAD v4
3g.38551452G>CCA433134244SCN5Ac.4917C>G (p.Ala1639=)
c.4920C>G (p.Ala1640=)
c.4866C>G (p.Ala1622=)
c.4758C>G (p.Ala1586=)
c.4821C>G (p.Ala1607=)
c.4791C>G (p.Ala1597=)
c.4863C>G (p.Ala1621=)
3g.38551452G=CA1358558094SCN5Ac.4917C= (p.Ala1639=)
c.4920C= (p.Ala1640=)
c.4866C= (p.Ala1622=)
c.4758C= (p.Ala1586=)
c.4821C= (p.Ala1607=)
c.4791C= (p.Ala1597=)
c.4863C= (p.Ala1621=)
3g.38551452G>TCA433134245SCN5Ac.4917C>A (p.Ala1639=)
c.4920C>A (p.Ala1640=)
c.4866C>A (p.Ala1622=)
c.4758C>A (p.Ala1586=)
c.4821C>A (p.Ala1607=)
c.4791C>A (p.Ala1597=)
c.4863C>A (p.Ala1621=)
dbSNP

Number of alleles fetched