Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.38551457C>ACA352142976SCN5Ac.4912G>T (p.Gly1638Trp)
c.4915G>T (p.Gly1639Trp)
c.4861G>T (p.Gly1621Trp)
c.4753G>T (p.Gly1585Trp)
c.4816G>T (p.Gly1606Trp)
c.4786G>T (p.Gly1596Trp)
c.4858G>T (p.Gly1620Trp)
3g.38551457C>GCA352142974SCN5Ac.4912G>C (p.Gly1638Arg)
c.4915G>C (p.Gly1639Arg)
c.4861G>C (p.Gly1621Arg)
c.4753G>C (p.Gly1585Arg)
c.4816G>C (p.Gly1606Arg)
c.4786G>C (p.Gly1596Arg)
c.4858G>C (p.Gly1620Arg)
3g.38551457C>TCA352142975SCN5Ac.4912G>A (p.Gly1638Arg)
c.4915G>A (p.Gly1639Arg)
c.4861G>A (p.Gly1621Arg)
c.4753G>A (p.Gly1585Arg)
c.4816G>A (p.Gly1606Arg)
c.4786G>A (p.Gly1596Arg)
c.4858G>A (p.Gly1620Arg)
 gnomAD v4
3g.38551458T>ACA063950SCN5Ac.4911A>T (p.Arg1637=)
c.4914A>T (p.Arg1638=)
c.4860A>T (p.Arg1620=)
c.4752A>T (p.Arg1584=)
c.4815A>T (p.Arg1605=)
c.4785A>T (p.Arg1595=)
c.4857A>T (p.Arg1619=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.38551458T>CCA433134249SCN5Ac.4911A>G (p.Arg1637=)
c.4914A>G (p.Arg1638=)
c.4860A>G (p.Arg1620=)
c.4752A>G (p.Arg1584=)
c.4815A>G (p.Arg1605=)
c.4785A>G (p.Arg1595=)
c.4857A>G (p.Arg1619=)
3g.38551458T>GCA433134250SCN5Ac.4911A>C (p.Arg1637=)
c.4914A>C (p.Arg1638=)
c.4860A>C (p.Arg1620=)
c.4752A>C (p.Arg1584=)
c.4815A>C (p.Arg1605=)
c.4785A>C (p.Arg1595=)
c.4857A>C (p.Arg1619=)
 ClinVar
3g.38551458T=CA1358558120SCN5Ac.4911A= (p.Arg1637=)
c.4914A= (p.Arg1638=)
c.4860A= (p.Arg1620=)
c.4752A= (p.Arg1584=)
c.4815A= (p.Arg1605=)
c.4785A= (p.Arg1595=)
c.4857A= (p.Arg1619=)
3g.38551459C>ACA352142977SCN5Ac.4910G>T (p.Arg1637Leu)
c.4913G>T (p.Arg1638Leu)
c.4859G>T (p.Arg1620Leu)
c.4751G>T (p.Arg1584Leu)
c.4814G>T (p.Arg1605Leu)
c.4784G>T (p.Arg1595Leu)
c.4856G>T (p.Arg1619Leu)
 ClinVar dbSNP COSMIC COSMIC COSMIC
3g.38551459C=CA1358558124SCN5Ac.4910G= (p.Arg1637=)
c.4913G= (p.Arg1638=)
c.4859G= (p.Arg1620=)
c.4751G= (p.Arg1584=)
c.4814G= (p.Arg1605=)
c.4784G= (p.Arg1595=)
c.4856G= (p.Arg1619=)
3g.38551459C>GCA16604565SCN5Ac.4910G>C (p.Arg1637Pro)
c.4913G>C (p.Arg1638Pro)
c.4859G>C (p.Arg1620Pro)
c.4751G>C (p.Arg1584Pro)
c.4814G>C (p.Arg1605Pro)
c.4784G>C (p.Arg1595Pro)
c.4856G>C (p.Arg1619Pro)
 ClinVar dbSNP
3g.38551459C>TCA063944SCN5Ac.4910G>A (p.Arg1637Gln)
c.4913G>A (p.Arg1638Gln)
c.4859G>A (p.Arg1620Gln)
c.4751G>A (p.Arg1584Gln)
c.4814G>A (p.Arg1605Gln)
c.4784G>A (p.Arg1595Gln)
c.4856G>A (p.Arg1619Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
3g.38551460G>ACA063937SCN5Ac.4909C>T (p.Arg1637Ter)
c.4912C>T (p.Arg1638Ter)
c.4858C>T (p.Arg1620Ter)
c.4750C>T (p.Arg1584Ter)
c.4813C>T (p.Arg1605Ter)
c.4783C>T (p.Arg1595Ter)
c.4855C>T (p.Arg1619Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.38551460G>CCA352142978SCN5Ac.4909C>G (p.Arg1637Gly)
c.4912C>G (p.Arg1638Gly)
c.4858C>G (p.Arg1620Gly)
c.4750C>G (p.Arg1584Gly)
c.4813C>G (p.Arg1605Gly)
c.4783C>G (p.Arg1595Gly)
c.4855C>G (p.Arg1619Gly)
3g.38551460G=CA1358558129SCN5Ac.4909C= (p.Arg1637=)
c.4912C= (p.Arg1638=)
c.4858C= (p.Arg1620=)
c.4750C= (p.Arg1584=)
c.4813C= (p.Arg1605=)
c.4783C= (p.Arg1595=)
c.4855C= (p.Arg1619=)
3g.38551460G>TCA433134251SCN5Ac.4909C>A (p.Arg1637=)
c.4912C>A (p.Arg1638=)
c.4858C>A (p.Arg1620=)
c.4750C>A (p.Arg1584=)
c.4813C>A (p.Arg1605=)
c.4783C>A (p.Arg1595=)
c.4855C>A (p.Arg1619=)
 COSMIC COSMIC COSMIC
3g.38551461G>ACA018741SCN5Ac.4908C>T (p.Ile1636=)
c.4911C>T (p.Ile1637=)
c.4857C>T (p.Ile1619=)
c.4749C>T (p.Ile1583=)
c.4812C>T (p.Ile1604=)
c.4782C>T (p.Ile1594=)
c.4854C>T (p.Ile1618=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38551461G>CCA352142979SCN5Ac.4908C>G (p.Ile1636Met)
c.4911C>G (p.Ile1637Met)
c.4857C>G (p.Ile1619Met)
c.4749C>G (p.Ile1583Met)
c.4812C>G (p.Ile1604Met)
c.4782C>G (p.Ile1594Met)
c.4854C>G (p.Ile1618Met)
3g.38551461G=CA1358558133SCN5Ac.4908C= (p.Ile1636=)
c.4911C= (p.Ile1637=)
c.4857C= (p.Ile1619=)
c.4749C= (p.Ile1583=)
c.4812C= (p.Ile1604=)
c.4782C= (p.Ile1594=)
c.4854C= (p.Ile1618=)
3g.38551461G>TCA433134252SCN5Ac.4908C>A (p.Ile1636=)
c.4911C>A (p.Ile1637=)
c.4857C>A (p.Ile1619=)
c.4749C>A (p.Ile1583=)
c.4812C>A (p.Ile1604=)
c.4782C>A (p.Ile1594=)
c.4854C>A (p.Ile1618=)
3g.38551462A>CCA352142980SCN5Ac.4907T>G (p.Ile1636Ser)
c.4910T>G (p.Ile1637Ser)
c.4856T>G (p.Ile1619Ser)
c.4748T>G (p.Ile1583Ser)
c.4811T>G (p.Ile1604Ser)
c.4781T>G (p.Ile1594Ser)
c.4853T>G (p.Ile1618Ser)
3g.38551462A>GCA352142981SCN5Ac.4907T>C (p.Ile1636Thr)
c.4910T>C (p.Ile1637Thr)
c.4856T>C (p.Ile1619Thr)
c.4748T>C (p.Ile1583Thr)
c.4811T>C (p.Ile1604Thr)
c.4781T>C (p.Ile1594Thr)
c.4853T>C (p.Ile1618Thr)
 gnomAD v4
3g.38551462A>TCA352142982SCN5Ac.4907T>A (p.Ile1636Asn)
c.4910T>A (p.Ile1637Asn)
c.4856T>A (p.Ile1619Asn)
c.4748T>A (p.Ile1583Asn)
c.4811T>A (p.Ile1604Asn)
c.4781T>A (p.Ile1594Asn)
c.4853T>A (p.Ile1618Asn)
3g.38551463T>ACA352142985SCN5Ac.4906A>T (p.Ile1636Phe)
c.4909A>T (p.Ile1637Phe)
c.4855A>T (p.Ile1619Phe)
c.4747A>T (p.Ile1583Phe)
c.4810A>T (p.Ile1604Phe)
c.4780A>T (p.Ile1594Phe)
c.4852A>T (p.Ile1618Phe)
3g.38551463T>CCA352142983SCN5Ac.4906A>G (p.Ile1636Val)
c.4909A>G (p.Ile1637Val)
c.4855A>G (p.Ile1619Val)
c.4747A>G (p.Ile1583Val)
c.4810A>G (p.Ile1604Val)
c.4780A>G (p.Ile1594Val)
c.4852A>G (p.Ile1618Val)
3g.38551463T>GCA352142984SCN5Ac.4906A>C (p.Ile1636Leu)
c.4909A>C (p.Ile1637Leu)
c.4855A>C (p.Ile1619Leu)
c.4747A>C (p.Ile1583Leu)
c.4810A>C (p.Ile1604Leu)
c.4780A>C (p.Ile1594Leu)
c.4852A>C (p.Ile1618Leu)
3g.38551464C>ACA433134253SCN5Ac.4905G>T (p.Leu1635=)
c.4908G>T (p.Leu1636=)
c.4854G>T (p.Leu1618=)
c.4746G>T (p.Leu1582=)
c.4809G>T (p.Leu1603=)
c.4779G>T (p.Leu1593=)
c.4851G>T (p.Leu1617=)
3g.38551464C>GCA433134254SCN5Ac.4905G>C (p.Leu1635=)
c.4908G>C (p.Leu1636=)
c.4854G>C (p.Leu1618=)
c.4746G>C (p.Leu1582=)
c.4809G>C (p.Leu1603=)
c.4779G>C (p.Leu1593=)
c.4851G>C (p.Leu1617=)
3g.38551464C>TCA433134255SCN5Ac.4905G>A (p.Leu1635=)
c.4908G>A (p.Leu1636=)
c.4854G>A (p.Leu1618=)
c.4746G>A (p.Leu1582=)
c.4809G>A (p.Leu1603=)
c.4779G>A (p.Leu1593=)
c.4851G>A (p.Leu1617=)
 COSMIC COSMIC COSMIC
3g.38551465A>CCA352142986SCN5Ac.4904T>G (p.Leu1635Arg)
c.4907T>G (p.Leu1636Arg)
c.4853T>G (p.Leu1618Arg)
c.4745T>G (p.Leu1582Arg)
c.4808T>G (p.Leu1603Arg)
c.4778T>G (p.Leu1593Arg)
c.4850T>G (p.Leu1617Arg)
3g.38551465A>GCA352142987SCN5Ac.4904T>C (p.Leu1635Pro)
c.4907T>C (p.Leu1636Pro)
c.4853T>C (p.Leu1618Pro)
c.4745T>C (p.Leu1582Pro)
c.4808T>C (p.Leu1603Pro)
c.4778T>C (p.Leu1593Pro)
c.4850T>C (p.Leu1617Pro)
3g.38551465A>TCA352142988SCN5Ac.4904T>A (p.Leu1635Gln)
c.4907T>A (p.Leu1636Gln)
c.4853T>A (p.Leu1618Gln)
c.4745T>A (p.Leu1582Gln)
c.4808T>A (p.Leu1603Gln)
c.4778T>A (p.Leu1593Gln)
c.4850T>A (p.Leu1617Gln)
3g.38551466G>ACA433134256SCN5Ac.4903C>T (p.Leu1635=)
c.4906C>T (p.Leu1636=)
c.4852C>T (p.Leu1618=)
c.4744C>T (p.Leu1582=)
c.4807C>T (p.Leu1603=)
c.4777C>T (p.Leu1593=)
c.4849C>T (p.Leu1617=)
3g.38551466G>CCA352142989SCN5Ac.4903C>G (p.Leu1635Val)
c.4906C>G (p.Leu1636Val)
c.4852C>G (p.Leu1618Val)
c.4744C>G (p.Leu1582Val)
c.4807C>G (p.Leu1603Val)
c.4777C>G (p.Leu1593Val)
c.4849C>G (p.Leu1617Val)
3g.38551466G>TCA352142990SCN5Ac.4903C>A (p.Leu1635Met)
c.4906C>A (p.Leu1636Met)
c.4852C>A (p.Leu1618Met)
c.4744C>A (p.Leu1582Met)
c.4807C>A (p.Leu1603Met)
c.4777C>A (p.Leu1593Met)
c.4849C>A (p.Leu1617Met)
 ClinVar dbSNP
3g.38551467T>ACA352142991SCN5Ac.4902A>T (p.Arg1634Ser)
c.4905A>T (p.Arg1635Ser)
c.4851A>T (p.Arg1617Ser)
c.4743A>T (p.Arg1581Ser)
c.4806A>T (p.Arg1602Ser)
c.4776A>T (p.Arg1592Ser)
c.4848A>T (p.Arg1616Ser)
3g.38551467T>CCA433134257SCN5Ac.4902A>G (p.Arg1634=)
c.4905A>G (p.Arg1635=)
c.4851A>G (p.Arg1617=)
c.4743A>G (p.Arg1581=)
c.4806A>G (p.Arg1602=)
c.4776A>G (p.Arg1592=)
c.4848A>G (p.Arg1616=)
 ClinVar
3g.38551467T>GCA352142992SCN5Ac.4902A>C (p.Arg1634Ser)
c.4905A>C (p.Arg1635Ser)
c.4851A>C (p.Arg1617Ser)
c.4743A>C (p.Arg1581Ser)
c.4806A>C (p.Arg1602Ser)
c.4776A>C (p.Arg1592Ser)
c.4848A>C (p.Arg1616Ser)
3g.38551468C>ACA352142993SCN5Ac.4901G>T (p.Arg1634Ile)
c.4904G>T (p.Arg1635Ile)
c.4850G>T (p.Arg1617Ile)
c.4742G>T (p.Arg1581Ile)
c.4805G>T (p.Arg1602Ile)
c.4775G>T (p.Arg1592Ile)
c.4847G>T (p.Arg1616Ile)
3g.38551468C>GCA352142994SCN5Ac.4901G>C (p.Arg1634Thr)
c.4904G>C (p.Arg1635Thr)
c.4850G>C (p.Arg1617Thr)
c.4742G>C (p.Arg1581Thr)
c.4805G>C (p.Arg1602Thr)
c.4775G>C (p.Arg1592Thr)
c.4847G>C (p.Arg1616Thr)
3g.38551468C>TCA352142995SCN5Ac.4901G>A (p.Arg1634Lys)
c.4904G>A (p.Arg1635Lys)
c.4850G>A (p.Arg1617Lys)
c.4742G>A (p.Arg1581Lys)
c.4805G>A (p.Arg1602Lys)
c.4775G>A (p.Arg1592Lys)
c.4847G>A (p.Arg1616Lys)
 COSMIC COSMIC COSMIC
3g.38551469T>ACA352142996SCN5Ac.4900A>T (p.Arg1634Ter)
c.4903A>T (p.Arg1635Ter)
c.4849A>T (p.Arg1617Ter)
c.4741A>T (p.Arg1581Ter)
c.4804A>T (p.Arg1602Ter)
c.4774A>T (p.Arg1592Ter)
c.4846A>T (p.Arg1616Ter)
3g.38551469T>CCA352142997SCN5Ac.4900A>G (p.Arg1634Gly)
c.4903A>G (p.Arg1635Gly)
c.4849A>G (p.Arg1617Gly)
c.4741A>G (p.Arg1581Gly)
c.4804A>G (p.Arg1602Gly)
c.4774A>G (p.Arg1592Gly)
c.4846A>G (p.Arg1616Gly)
 COSMIC COSMIC COSMIC
3g.38551469T>GCA433134258SCN5Ac.4900A>C (p.Arg1634=)
c.4903A>C (p.Arg1635=)
c.4849A>C (p.Arg1617=)
c.4741A>C (p.Arg1581=)
c.4804A>C (p.Arg1602=)
c.4774A>C (p.Arg1592=)
c.4846A>C (p.Arg1616=)
3g.38551470G>ACA433134259SCN5Ac.4899C>T (p.Leu1633=)
c.4902C>T (p.Leu1634=)
c.4848C>T (p.Leu1616=)
c.4740C>T (p.Leu1580=)
c.4803C>T (p.Leu1601=)
c.4773C>T (p.Leu1591=)
c.4845C>T (p.Leu1615=)
 gnomAD v4
3g.38551470G>CCA433134260SCN5Ac.4899C>G (p.Leu1633=)
c.4902C>G (p.Leu1634=)
c.4848C>G (p.Leu1616=)
c.4740C>G (p.Leu1580=)
c.4803C>G (p.Leu1601=)
c.4773C>G (p.Leu1591=)
c.4845C>G (p.Leu1615=)
3g.38551470G>TCA433134261SCN5Ac.4899C>A (p.Leu1633=)
c.4902C>A (p.Leu1634=)
c.4848C>A (p.Leu1616=)
c.4740C>A (p.Leu1580=)
c.4803C>A (p.Leu1601=)
c.4773C>A (p.Leu1591=)
c.4845C>A (p.Leu1615=)
3g.38551471A>CCA352143000SCN5Ac.4898T>G (p.Leu1633Arg)
c.4901T>G (p.Leu1634Arg)
c.4847T>G (p.Leu1616Arg)
c.4739T>G (p.Leu1580Arg)
c.4802T>G (p.Leu1601Arg)
c.4772T>G (p.Leu1591Arg)
c.4844T>G (p.Leu1615Arg)
3g.38551471A>GCA352142999SCN5Ac.4898T>C (p.Leu1633Pro)
c.4901T>C (p.Leu1634Pro)
c.4847T>C (p.Leu1616Pro)
c.4739T>C (p.Leu1580Pro)
c.4802T>C (p.Leu1601Pro)
c.4772T>C (p.Leu1591Pro)
c.4844T>C (p.Leu1615Pro)
3g.38551471A>TCA352142998SCN5Ac.4898T>A (p.Leu1633His)
c.4901T>A (p.Leu1634His)
c.4847T>A (p.Leu1616His)
c.4739T>A (p.Leu1580His)
c.4802T>A (p.Leu1601His)
c.4772T>A (p.Leu1591His)
c.4844T>A (p.Leu1615His)
3g.38551472G>ACA352143001SCN5Ac.4897C>T (p.Leu1633Phe)
c.4900C>T (p.Leu1634Phe)
c.4846C>T (p.Leu1616Phe)
c.4738C>T (p.Leu1580Phe)
c.4801C>T (p.Leu1601Phe)
c.4771C>T (p.Leu1591Phe)
c.4843C>T (p.Leu1615Phe)
3g.38551472G>CCA352143003SCN5Ac.4897C>G (p.Leu1633Val)
c.4900C>G (p.Leu1634Val)
c.4846C>G (p.Leu1616Val)
c.4738C>G (p.Leu1580Val)
c.4801C>G (p.Leu1601Val)
c.4771C>G (p.Leu1591Val)
c.4843C>G (p.Leu1615Val)
3g.38551472G>TCA352143002SCN5Ac.4897C>A (p.Leu1633Ile)
c.4900C>A (p.Leu1634Ile)
c.4846C>A (p.Leu1616Ile)
c.4738C>A (p.Leu1580Ile)
c.4801C>A (p.Leu1601Ile)
c.4771C>A (p.Leu1591Ile)
c.4843C>A (p.Leu1615Ile)
3g.38551473G>ACA72938328SCN5Ac.4896C>T (p.Ile1632=)
c.4899C>T (p.Ile1633=)
c.4845C>T (p.Ile1615=)
c.4737C>T (p.Ile1579=)
c.4800C>T (p.Ile1600=)
c.4770C>T (p.Ile1590=)
c.4842C>T (p.Ile1614=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.38551473G>CCA352143004SCN5Ac.4896C>G (p.Ile1632Met)
c.4899C>G (p.Ile1633Met)
c.4845C>G (p.Ile1615Met)
c.4737C>G (p.Ile1579Met)
c.4800C>G (p.Ile1600Met)
c.4770C>G (p.Ile1590Met)
c.4842C>G (p.Ile1614Met)
3g.38551473G=CA1358558144SCN5Ac.4896C= (p.Ile1632=)
c.4899C= (p.Ile1633=)
c.4845C= (p.Ile1615=)
c.4737C= (p.Ile1579=)
c.4800C= (p.Ile1600=)
c.4770C= (p.Ile1590=)
c.4842C= (p.Ile1614=)
3g.38551473G>TCA433134262SCN5Ac.4896C>A (p.Ile1632=)
c.4899C>A (p.Ile1633=)
c.4845C>A (p.Ile1615=)
c.4737C>A (p.Ile1579=)
c.4800C>A (p.Ile1600=)
c.4770C>A (p.Ile1590=)
c.4842C>A (p.Ile1614=)
 ClinVar dbSNP
3g.38551474A>CCA352143005SCN5Ac.4895T>G (p.Ile1632Ser)
c.4898T>G (p.Ile1633Ser)
c.4844T>G (p.Ile1615Ser)
c.4736T>G (p.Ile1579Ser)
c.4799T>G (p.Ile1600Ser)
c.4769T>G (p.Ile1590Ser)
c.4841T>G (p.Ile1614Ser)
3g.38551474A>GCA352143006SCN5Ac.4895T>C (p.Ile1632Thr)
c.4898T>C (p.Ile1633Thr)
c.4844T>C (p.Ile1615Thr)
c.4736T>C (p.Ile1579Thr)
c.4799T>C (p.Ile1600Thr)
c.4769T>C (p.Ile1590Thr)
c.4841T>C (p.Ile1614Thr)
3g.38551474A>TCA352143007SCN5Ac.4895T>A (p.Ile1632Asn)
c.4898T>A (p.Ile1633Asn)
c.4844T>A (p.Ile1615Asn)
c.4736T>A (p.Ile1579Asn)
c.4799T>A (p.Ile1600Asn)
c.4769T>A (p.Ile1590Asn)
c.4841T>A (p.Ile1614Asn)
3g.38551475T>ACA352143008SCN5Ac.4894A>T (p.Ile1632Phe)
c.4897A>T (p.Ile1633Phe)
c.4843A>T (p.Ile1615Phe)
c.4735A>T (p.Ile1579Phe)
c.4798A>T (p.Ile1600Phe)
c.4768A>T (p.Ile1590Phe)
c.4840A>T (p.Ile1614Phe)
3g.38551475T>CCA352143009SCN5Ac.4894A>G (p.Ile1632Val)
c.4897A>G (p.Ile1633Val)
c.4843A>G (p.Ile1615Val)
c.4735A>G (p.Ile1579Val)
c.4798A>G (p.Ile1600Val)
c.4768A>G (p.Ile1590Val)
c.4840A>G (p.Ile1614Val)
 ClinVar dbSNP
3g.38551475T>GCA352143010SCN5Ac.4894A>C (p.Ile1632Leu)
c.4897A>C (p.Ile1633Leu)
c.4843A>C (p.Ile1615Leu)
c.4735A>C (p.Ile1579Leu)
c.4798A>C (p.Ile1600Leu)
c.4768A>C (p.Ile1590Leu)
c.4840A>C (p.Ile1614Leu)
3g.38551475T=CA1358558148SCN5Ac.4894A= (p.Ile1632=)
c.4897A= (p.Ile1633=)
c.4843A= (p.Ile1615=)
c.4735A= (p.Ile1579=)
c.4798A= (p.Ile1600=)
c.4768A= (p.Ile1590=)
c.4840A= (p.Ile1614=)
3g.38551476G>ACA433134263SCN5Ac.4893C>T (p.Arg1631=)
c.4896C>T (p.Arg1632=)
c.4842C>T (p.Arg1614=)
c.4734C>T (p.Arg1578=)
c.4797C>T (p.Arg1599=)
c.4767C>T (p.Arg1589=)
c.4839C>T (p.Arg1613=)
 gnomAD v4
3g.38551476G>CCA433134264SCN5Ac.4893C>G (p.Arg1631=)
c.4896C>G (p.Arg1632=)
c.4842C>G (p.Arg1614=)
c.4734C>G (p.Arg1578=)
c.4797C>G (p.Arg1599=)
c.4767C>G (p.Arg1589=)
c.4839C>G (p.Arg1613=)
3g.38551476G>TCA433134265SCN5Ac.4893C>A (p.Arg1631=)
c.4896C>A (p.Arg1632=)
c.4842C>A (p.Arg1614=)
c.4734C>A (p.Arg1578=)
c.4797C>A (p.Arg1599=)
c.4767C>A (p.Arg1589=)
c.4839C>A (p.Arg1613=)
3g.38551477C>ACA352143011SCN5Ac.4892G>T (p.Arg1631Leu)
c.4895G>T (p.Arg1632Leu)
c.4841G>T (p.Arg1614Leu)
c.4733G>T (p.Arg1578Leu)
c.4796G>T (p.Arg1599Leu)
c.4766G>T (p.Arg1589Leu)
c.4838G>T (p.Arg1613Leu)
 ClinVar gnomAD v4
3g.38551477C=CA1358558155SCN5Ac.4892G= (p.Arg1631=)
c.4895G= (p.Arg1632=)
c.4841G= (p.Arg1614=)
c.4733G= (p.Arg1578=)
c.4796G= (p.Arg1599=)
c.4766G= (p.Arg1589=)
c.4838G= (p.Arg1613=)
3g.38551477C>GCA352143012SCN5Ac.4892G>C (p.Arg1631Pro)
c.4895G>C (p.Arg1632Pro)
c.4841G>C (p.Arg1614Pro)
c.4733G>C (p.Arg1578Pro)
c.4796G>C (p.Arg1599Pro)
c.4766G>C (p.Arg1589Pro)
c.4838G>C (p.Arg1613Pro)
3g.38551477C>TCA018735SCN5Ac.4892G>A (p.Arg1631His)
c.4895G>A (p.Arg1632His)
c.4841G>A (p.Arg1614His)
c.4733G>A (p.Arg1578His)
c.4796G>A (p.Arg1599His)
c.4766G>A (p.Arg1589His)
c.4838G>A (p.Arg1613His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
3g.38551478G>ACA10582189SCN5Ac.4891C>T (p.Arg1631Cys)
c.4894C>T (p.Arg1632Cys)
c.4840C>T (p.Arg1614Cys)
c.4732C>T (p.Arg1578Cys)
c.4795C>T (p.Arg1599Cys)
c.4765C>T (p.Arg1589Cys)
c.4837C>T (p.Arg1613Cys)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.38551478G>CCA352143014SCN5Ac.4891C>G (p.Arg1631Gly)
c.4894C>G (p.Arg1632Gly)
c.4840C>G (p.Arg1614Gly)
c.4732C>G (p.Arg1578Gly)
c.4795C>G (p.Arg1599Gly)
c.4765C>G (p.Arg1589Gly)
c.4837C>G (p.Arg1613Gly)
3g.38551478G=CA1358558161SCN5Ac.4891C= (p.Arg1631=)
c.4894C= (p.Arg1632=)
c.4840C= (p.Arg1614=)
c.4732C= (p.Arg1578=)
c.4795C= (p.Arg1599=)
c.4765C= (p.Arg1589=)
c.4837C= (p.Arg1613=)
3g.38551478G>TCA352143013SCN5Ac.4891C>A (p.Arg1631Ser)
c.4894C>A (p.Arg1632Ser)
c.4840C>A (p.Arg1614Ser)
c.4732C>A (p.Arg1578Ser)
c.4795C>A (p.Arg1599Ser)
c.4765C>A (p.Arg1589Ser)
c.4837C>A (p.Arg1613Ser)
3g.38551479G>ACA433134266SCN5Ac.4890C>T (p.Gly1630=)
c.4893C>T (p.Gly1631=)
c.4839C>T (p.Gly1613=)
c.4731C>T (p.Gly1577=)
c.4794C>T (p.Gly1598=)
c.4764C>T (p.Gly1588=)
c.4836C>T (p.Gly1612=)
3g.38551479G>CCA433134267SCN5Ac.4890C>G (p.Gly1630=)
c.4893C>G (p.Gly1631=)
c.4839C>G (p.Gly1613=)
c.4731C>G (p.Gly1577=)
c.4794C>G (p.Gly1598=)
c.4764C>G (p.Gly1588=)
c.4836C>G (p.Gly1612=)
 dbSNP gnomAD v2 gnomAD v4
3g.38551479G=CA1358558170SCN5Ac.4890C= (p.Gly1630=)
c.4893C= (p.Gly1631=)
c.4839C= (p.Gly1613=)
c.4731C= (p.Gly1577=)
c.4794C= (p.Gly1598=)
c.4764C= (p.Gly1588=)
c.4836C= (p.Gly1612=)
3g.38551479G>TCA063915SCN5Ac.4890C>A (p.Gly1630=)
c.4893C>A (p.Gly1631=)
c.4839C>A (p.Gly1613=)
c.4731C>A (p.Gly1577=)
c.4794C>A (p.Gly1598=)
c.4764C>A (p.Gly1588=)
c.4836C>A (p.Gly1612=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38551480C>ACA352143015SCN5Ac.4889G>T (p.Gly1630Val)
c.4892G>T (p.Gly1631Val)
c.4838G>T (p.Gly1613Val)
c.4730G>T (p.Gly1577Val)
c.4793G>T (p.Gly1598Val)
c.4763G>T (p.Gly1588Val)
c.4835G>T (p.Gly1612Val)
3g.38551480C=CA1358558174SCN5Ac.4889G= (p.Gly1630=)
c.4892G= (p.Gly1631=)
c.4838G= (p.Gly1613=)
c.4730G= (p.Gly1577=)
c.4793G= (p.Gly1598=)
c.4763G= (p.Gly1588=)
c.4835G= (p.Gly1612=)
3g.38551480C>GCA352143016SCN5Ac.4889G>C (p.Gly1630Ala)
c.4892G>C (p.Gly1631Ala)
c.4838G>C (p.Gly1613Ala)
c.4730G>C (p.Gly1577Ala)
c.4793G>C (p.Gly1598Ala)
c.4763G>C (p.Gly1588Ala)
c.4835G>C (p.Gly1612Ala)
3g.38551480C>TCA018729SCN5Ac.4889G>A (p.Gly1630Asp)
c.4892G>A (p.Gly1631Asp)
c.4838G>A (p.Gly1613Asp)
c.4730G>A (p.Gly1577Asp)
c.4793G>A (p.Gly1598Asp)
c.4763G>A (p.Gly1588Asp)
c.4835G>A (p.Gly1612Asp)
 ClinVar dbSNP
3g.38551481C>ACA352143017SCN5Ac.4888G>T (p.Gly1630Cys)
c.4891G>T (p.Gly1631Cys)
c.4837G>T (p.Gly1613Cys)
c.4729G>T (p.Gly1577Cys)
c.4792G>T (p.Gly1598Cys)
c.4762G>T (p.Gly1588Cys)
c.4834G>T (p.Gly1612Cys)
3g.38551481C>GCA352143018SCN5Ac.4888G>C (p.Gly1630Arg)
c.4891G>C (p.Gly1631Arg)
c.4837G>C (p.Gly1613Arg)
c.4729G>C (p.Gly1577Arg)
c.4792G>C (p.Gly1598Arg)
c.4762G>C (p.Gly1588Arg)
c.4834G>C (p.Gly1612Arg)
3g.38551481C>TCA352143019SCN5Ac.4888G>A (p.Gly1630Ser)
c.4891G>A (p.Gly1631Ser)
c.4837G>A (p.Gly1613Ser)
c.4729G>A (p.Gly1577Ser)
c.4792G>A (p.Gly1598Ser)
c.4762G>A (p.Gly1588Ser)
c.4834G>A (p.Gly1612Ser)
3g.38551482T>ACA018722SCN5Ac.4887A>T (p.Ile1629=)
c.4890A>T (p.Ile1630=)
c.4836A>T (p.Ile1612=)
c.4728A>T (p.Ile1576=)
c.4791A>T (p.Ile1597=)
c.4761A>T (p.Ile1587=)
c.4833A>T (p.Ile1611=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
3g.38551482T>CCA352143020SCN5Ac.4887A>G (p.Ile1629Met)
c.4890A>G (p.Ile1630Met)
c.4836A>G (p.Ile1612Met)
c.4728A>G (p.Ile1576Met)
c.4791A>G (p.Ile1597Met)
c.4761A>G (p.Ile1587Met)
c.4833A>G (p.Ile1611Met)
 gnomAD v4
3g.38551482T>GCA433134269SCN5Ac.4887A>C (p.Ile1629=)
c.4890A>C (p.Ile1630=)
c.4836A>C (p.Ile1612=)
c.4728A>C (p.Ile1576=)
c.4791A>C (p.Ile1597=)
c.4761A>C (p.Ile1587=)
c.4833A>C (p.Ile1611=)
3g.38551482T=CA1358558183SCN5Ac.4887A= (p.Ile1629=)
c.4890A= (p.Ile1630=)
c.4836A= (p.Ile1612=)
c.4728A= (p.Ile1576=)
c.4791A= (p.Ile1597=)
c.4761A= (p.Ile1587=)
c.4833A= (p.Ile1611=)
3g.38551483A=CA1358558186SCN5Ac.4886T= (p.Ile1629=)
c.4889T= (p.Ile1630=)
c.4835T= (p.Ile1612=)
c.4727T= (p.Ile1576=)
c.4790T= (p.Ile1597=)
c.4760T= (p.Ile1587=)
c.4832T= (p.Ile1611=)
3g.38551483A>CCA352143021SCN5Ac.4886T>G (p.Ile1629Arg)
c.4889T>G (p.Ile1630Arg)
c.4835T>G (p.Ile1612Arg)
c.4727T>G (p.Ile1576Arg)
c.4790T>G (p.Ile1597Arg)
c.4760T>G (p.Ile1587Arg)
c.4832T>G (p.Ile1611Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.38551483A>GCA352143022SCN5Ac.4886T>C (p.Ile1629Thr)
c.4889T>C (p.Ile1630Thr)
c.4835T>C (p.Ile1612Thr)
c.4727T>C (p.Ile1576Thr)
c.4790T>C (p.Ile1597Thr)
c.4760T>C (p.Ile1587Thr)
c.4832T>C (p.Ile1611Thr)
 ClinVar
3g.38551483A>TCA352143023SCN5Ac.4886T>A (p.Ile1629Lys)
c.4889T>A (p.Ile1630Lys)
c.4835T>A (p.Ile1612Lys)
c.4727T>A (p.Ile1576Lys)
c.4790T>A (p.Ile1597Lys)
c.4760T>A (p.Ile1587Lys)
c.4832T>A (p.Ile1611Lys)
3g.38551484T>ACA352143026SCN5Ac.4885A>T (p.Ile1629Leu)
c.4888A>T (p.Ile1630Leu)
c.4834A>T (p.Ile1612Leu)
c.4726A>T (p.Ile1576Leu)
c.4789A>T (p.Ile1597Leu)
c.4759A>T (p.Ile1587Leu)
c.4831A>T (p.Ile1611Leu)
3g.38551484T>CCA352143025SCN5Ac.4885A>G (p.Ile1629Val)
c.4888A>G (p.Ile1630Val)
c.4834A>G (p.Ile1612Val)
c.4726A>G (p.Ile1576Val)
c.4789A>G (p.Ile1597Val)
c.4759A>G (p.Ile1587Val)
c.4831A>G (p.Ile1611Val)
 dbSNP gnomAD v2 gnomAD v4
3g.38551484T>GCA352143024SCN5Ac.4885A>C (p.Ile1629Leu)
c.4888A>C (p.Ile1630Leu)
c.4834A>C (p.Ile1612Leu)
c.4726A>C (p.Ile1576Leu)
c.4789A>C (p.Ile1597Leu)
c.4759A>C (p.Ile1587Leu)
c.4831A>C (p.Ile1611Leu)
3g.38551484T=CA1358558189SCN5Ac.4885A= (p.Ile1629=)
c.4888A= (p.Ile1630=)
c.4834A= (p.Ile1612=)
c.4726A= (p.Ile1576=)
c.4789A= (p.Ile1597=)
c.4759A= (p.Ile1587=)
c.4831A= (p.Ile1611=)
3g.38551485T>ACA433134272SCN5Ac.4884A>T (p.Arg1628=)
c.4887A>T (p.Arg1629=)
c.4833A>T (p.Arg1611=)
c.4725A>T (p.Arg1575=)
c.4788A>T (p.Arg1596=)
c.4758A>T (p.Arg1586=)
c.4830A>T (p.Arg1610=)
3g.38551485T>CCA433134274SCN5Ac.4884A>G (p.Arg1628=)
c.4887A>G (p.Arg1629=)
c.4833A>G (p.Arg1611=)
c.4725A>G (p.Arg1575=)
c.4788A>G (p.Arg1596=)
c.4758A>G (p.Arg1586=)
c.4830A>G (p.Arg1610=)
3g.38551485T>GCA433134276SCN5Ac.4884A>C (p.Arg1628=)
c.4887A>C (p.Arg1629=)
c.4833A>C (p.Arg1611=)
c.4725A>C (p.Arg1575=)
c.4788A>C (p.Arg1596=)
c.4758A>C (p.Arg1586=)
c.4830A>C (p.Arg1610=)
 ClinVar
3g.38551486C>ACA352143027SCN5Ac.4883G>T (p.Arg1628Leu)
c.4886G>T (p.Arg1629Leu)
c.4832G>T (p.Arg1611Leu)
c.4724G>T (p.Arg1575Leu)
c.4787G>T (p.Arg1596Leu)
c.4757G>T (p.Arg1586Leu)
c.4829G>T (p.Arg1610Leu)
3g.38551486C=CA1358558196SCN5Ac.4883G= (p.Arg1628=)
c.4886G= (p.Arg1629=)
c.4832G= (p.Arg1611=)
c.4724G= (p.Arg1575=)
c.4787G= (p.Arg1596=)
c.4757G= (p.Arg1586=)
c.4829G= (p.Arg1610=)
3g.38551486C>GCA352143028SCN5Ac.4883G>C (p.Arg1628Pro)
c.4886G>C (p.Arg1629Pro)
c.4832G>C (p.Arg1611Pro)
c.4724G>C (p.Arg1575Pro)
c.4787G>C (p.Arg1596Pro)
c.4757G>C (p.Arg1586Pro)
c.4829G>C (p.Arg1610Pro)
3g.38551486C>TCA018714SCN5Ac.4883G>A (p.Arg1628Gln)
c.4886G>A (p.Arg1629Gln)
c.4832G>A (p.Arg1611Gln)
c.4724G>A (p.Arg1575Gln)
c.4787G>A (p.Arg1596Gln)
c.4757G>A (p.Arg1586Gln)
c.4829G>A (p.Arg1610Gln)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
3g.38551487G>ACA063905SCN5Ac.4882C>T (p.Arg1628Ter)
c.4885C>T (p.Arg1629Ter)
c.4831C>T (p.Arg1611Ter)
c.4723C>T (p.Arg1575Ter)
c.4786C>T (p.Arg1596Ter)
c.4756C>T (p.Arg1586Ter)
c.4828C>T (p.Arg1610Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38551487G>CCA018709SCN5Ac.4882C>G (p.Arg1628Gly)
c.4885C>G (p.Arg1629Gly)
c.4831C>G (p.Arg1611Gly)
c.4723C>G (p.Arg1575Gly)
c.4786C>G (p.Arg1596Gly)
c.4756C>G (p.Arg1586Gly)
c.4828C>G (p.Arg1610Gly)
 ClinVar dbSNP
3g.38551487G=CA1358558200SCN5Ac.4882C= (p.Arg1628=)
c.4885C= (p.Arg1629=)
c.4831C= (p.Arg1611=)
c.4723C= (p.Arg1575=)
c.4786C= (p.Arg1596=)
c.4756C= (p.Arg1586=)
c.4828C= (p.Arg1610=)
3g.38551487G>TCA433134278SCN5Ac.4882C>A (p.Arg1628=)
c.4885C>A (p.Arg1629=)
c.4831C>A (p.Arg1611=)
c.4723C>A (p.Arg1575=)
c.4786C>A (p.Arg1596=)
c.4756C>A (p.Arg1586=)
c.4828C>A (p.Arg1610=)
 ClinVar
3g.38551488G>ACA433134280SCN5Ac.4881C>T (p.Ala1627=)
c.4884C>T (p.Ala1628=)
c.4830C>T (p.Ala1610=)
c.4722C>T (p.Ala1574=)
c.4785C>T (p.Ala1595=)
c.4755C>T (p.Ala1585=)
c.4827C>T (p.Ala1609=)
 dbSNP gnomAD v2 gnomAD v4
3g.38551488G>CCA433134281SCN5Ac.4881C>G (p.Ala1627=)
c.4884C>G (p.Ala1628=)
c.4830C>G (p.Ala1610=)
c.4722C>G (p.Ala1574=)
c.4785C>G (p.Ala1595=)
c.4755C>G (p.Ala1585=)
c.4827C>G (p.Ala1609=)
3g.38551488G=CA1358558207SCN5Ac.4881C= (p.Ala1627=)
c.4884C= (p.Ala1628=)
c.4830C= (p.Ala1610=)
c.4722C= (p.Ala1574=)
c.4785C= (p.Ala1595=)
c.4755C= (p.Ala1585=)
c.4827C= (p.Ala1609=)
3g.38551488G>TCA433134282SCN5Ac.4881C>A (p.Ala1627=)
c.4884C>A (p.Ala1628=)
c.4830C>A (p.Ala1610=)
c.4722C>A (p.Ala1574=)
c.4785C>A (p.Ala1595=)
c.4755C>A (p.Ala1585=)
c.4827C>A (p.Ala1609=)
3g.38551489G>ACA352143029SCN5Ac.4880C>T (p.Ala1627Val)
c.4883C>T (p.Ala1628Val)
c.4829C>T (p.Ala1610Val)
c.4721C>T (p.Ala1574Val)
c.4784C>T (p.Ala1595Val)
c.4754C>T (p.Ala1585Val)
c.4826C>T (p.Ala1609Val)
3g.38551489G>CCA352143031SCN5Ac.4880C>G (p.Ala1627Gly)
c.4883C>G (p.Ala1628Gly)
c.4829C>G (p.Ala1610Gly)
c.4721C>G (p.Ala1574Gly)
c.4784C>G (p.Ala1595Gly)
c.4754C>G (p.Ala1585Gly)
c.4826C>G (p.Ala1609Gly)
3g.38551489G=CA1358558212SCN5Ac.4880C= (p.Ala1627=)
c.4883C= (p.Ala1628=)
c.4829C= (p.Ala1610=)
c.4721C= (p.Ala1574=)
c.4784C= (p.Ala1595=)
c.4754C= (p.Ala1585=)
c.4826C= (p.Ala1609=)
3g.38551489G>TCA352143030SCN5Ac.4880C>A (p.Ala1627Asp)
c.4883C>A (p.Ala1628Asp)
c.4829C>A (p.Ala1610Asp)
c.4721C>A (p.Ala1574Asp)
c.4784C>A (p.Ala1595Asp)
c.4754C>A (p.Ala1585Asp)
c.4826C>A (p.Ala1609Asp)
 ClinVar dbSNP
3g.38551490C>ACA352143032SCN5Ac.4879G>T (p.Ala1627Ser)
c.4882G>T (p.Ala1628Ser)
c.4828G>T (p.Ala1610Ser)
c.4720G>T (p.Ala1574Ser)
c.4783G>T (p.Ala1595Ser)
c.4753G>T (p.Ala1585Ser)
c.4825G>T (p.Ala1609Ser)
3g.38551490C>GCA352143033SCN5Ac.4879G>C (p.Ala1627Pro)
c.4882G>C (p.Ala1628Pro)
c.4828G>C (p.Ala1610Pro)
c.4720G>C (p.Ala1574Pro)
c.4783G>C (p.Ala1595Pro)
c.4753G>C (p.Ala1585Pro)
c.4825G>C (p.Ala1609Pro)
3g.38551490C>TCA352143034SCN5Ac.4879G>A (p.Ala1627Thr)
c.4882G>A (p.Ala1628Thr)
c.4828G>A (p.Ala1610Thr)
c.4720G>A (p.Ala1574Thr)
c.4783G>A (p.Ala1595Thr)
c.4753G>A (p.Ala1585Thr)
c.4825G>A (p.Ala1609Thr)
3g.38551491C>ACA433134283SCN5Ac.4878G>T (p.Leu1626=)
c.4881G>T (p.Leu1627=)
c.4827G>T (p.Leu1609=)
c.4719G>T (p.Leu1573=)
c.4782G>T (p.Leu1594=)
c.4752G>T (p.Leu1584=)
c.4824G>T (p.Leu1608=)
3g.38551491C>GCA433134284SCN5Ac.4878G>C (p.Leu1626=)
c.4881G>C (p.Leu1627=)
c.4827G>C (p.Leu1609=)
c.4719G>C (p.Leu1573=)
c.4782G>C (p.Leu1594=)
c.4752G>C (p.Leu1584=)
c.4824G>C (p.Leu1608=)
3g.38551491C>TCA433134286SCN5Ac.4878G>A (p.Leu1626=)
c.4881G>A (p.Leu1627=)
c.4827G>A (p.Leu1609=)
c.4719G>A (p.Leu1573=)
c.4782G>A (p.Leu1594=)
c.4752G>A (p.Leu1584=)
c.4824G>A (p.Leu1608=)
 ClinVar
3g.38551492A>CCA352143035SCN5Ac.4877T>G (p.Leu1626Arg)
c.4880T>G (p.Leu1627Arg)
c.4826T>G (p.Leu1609Arg)
c.4718T>G (p.Leu1573Arg)
c.4781T>G (p.Leu1594Arg)
c.4751T>G (p.Leu1584Arg)
c.4823T>G (p.Leu1608Arg)
3g.38551492A>GCA352143036SCN5Ac.4877T>C (p.Leu1626Pro)
c.4880T>C (p.Leu1627Pro)
c.4826T>C (p.Leu1609Pro)
c.4718T>C (p.Leu1573Pro)
c.4781T>C (p.Leu1594Pro)
c.4751T>C (p.Leu1584Pro)
c.4823T>C (p.Leu1608Pro)
3g.38551492A>TCA352143037SCN5Ac.4877T>A (p.Leu1626Gln)
c.4880T>A (p.Leu1627Gln)
c.4826T>A (p.Leu1609Gln)
c.4718T>A (p.Leu1573Gln)
c.4781T>A (p.Leu1594Gln)
c.4751T>A (p.Leu1584Gln)
c.4823T>A (p.Leu1608Gln)
3g.38551493G>ACA433134287SCN5Ac.4876C>T (p.Leu1626=)
c.4879C>T (p.Leu1627=)
c.4825C>T (p.Leu1609=)
c.4717C>T (p.Leu1573=)
c.4780C>T (p.Leu1594=)
c.4750C>T (p.Leu1584=)
c.4822C>T (p.Leu1608=)
3g.38551493G>CCA352143038SCN5Ac.4876C>G (p.Leu1626Val)
c.4879C>G (p.Leu1627Val)
c.4825C>G (p.Leu1609Val)
c.4717C>G (p.Leu1573Val)
c.4780C>G (p.Leu1594Val)
c.4750C>G (p.Leu1584Val)
c.4822C>G (p.Leu1608Val)
 gnomAD v4
3g.38551493G>TCA352143039SCN5Ac.4876C>A (p.Leu1626Met)
c.4879C>A (p.Leu1627Met)
c.4825C>A (p.Leu1609Met)
c.4717C>A (p.Leu1573Met)
c.4780C>A (p.Leu1594Met)
c.4750C>A (p.Leu1584Met)
c.4822C>A (p.Leu1608Met)
3g.38551494delCA2586965832SCN5Ac.4876del (p.Leu1626TrpfsTer4)
c.4879del (p.Leu1627TrpfsTer4)
c.4825del (p.Leu1609TrpfsTer4)
c.4717del (p.Leu1573TrpfsTer4)
c.4780del (p.Leu1594TrpfsTer4)
c.4750del (p.Leu1584TrpfsTer4)
c.4822del (p.Leu1608TrpfsTer4)
3g.38551494G>ACA433134288SCN5Ac.4875C>T (p.Arg1625=)
c.4878C>T (p.Arg1626=)
c.4824C>T (p.Arg1608=)
c.4716C>T (p.Arg1572=)
c.4779C>T (p.Arg1593=)
c.4749C>T (p.Arg1583=)
c.4821C>T (p.Arg1607=)
3g.38551494G>CCA433134290SCN5Ac.4875C>G (p.Arg1625=)
c.4878C>G (p.Arg1626=)
c.4824C>G (p.Arg1608=)
c.4716C>G (p.Arg1572=)
c.4779C>G (p.Arg1593=)
c.4749C>G (p.Arg1583=)
c.4821C>G (p.Arg1607=)
3g.38551494G>TCA433134292SCN5Ac.4875C>A (p.Arg1625=)
c.4878C>A (p.Arg1626=)
c.4824C>A (p.Arg1608=)
c.4716C>A (p.Arg1572=)
c.4779C>A (p.Arg1593=)
c.4749C>A (p.Arg1583=)
c.4821C>A (p.Arg1607=)
3g.38551495C>ACA352143040SCN5Ac.4874G>T (p.Arg1625Leu)
c.4877G>T (p.Arg1626Leu)
c.4823G>T (p.Arg1608Leu)
c.4715G>T (p.Arg1572Leu)
c.4778G>T (p.Arg1593Leu)
c.4748G>T (p.Arg1583Leu)
c.4820G>T (p.Arg1607Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.38551495C=CA1358558220SCN5Ac.4874G= (p.Arg1625=)
c.4877G= (p.Arg1626=)
c.4823G= (p.Arg1608=)
c.4715G= (p.Arg1572=)
c.4778G= (p.Arg1593=)
c.4748G= (p.Arg1583=)
c.4820G= (p.Arg1607=)
3g.38551495C>GCA018703SCN5Ac.4874G>C (p.Arg1625Pro)
c.4877G>C (p.Arg1626Pro)
c.4823G>C (p.Arg1608Pro)
c.4715G>C (p.Arg1572Pro)
c.4778G>C (p.Arg1593Pro)
c.4748G>C (p.Arg1583Pro)
c.4820G>C (p.Arg1607Pro)
 ClinVar dbSNP
3g.38551495C>TCA018698SCN5Ac.4874G>A (p.Arg1625His)
c.4877G>A (p.Arg1626His)
c.4823G>A (p.Arg1608His)
c.4715G>A (p.Arg1572His)
c.4778G>A (p.Arg1593His)
c.4748G>A (p.Arg1583His)
c.4820G>A (p.Arg1607His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38551496G>ACA16611263SCN5Ac.4873C>T (p.Arg1625Cys)
c.4876C>T (p.Arg1626Cys)
c.4822C>T (p.Arg1608Cys)
c.4714C>T (p.Arg1572Cys)
c.4777C>T (p.Arg1593Cys)
c.4747C>T (p.Arg1583Cys)
c.4819C>T (p.Arg1607Cys)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
3g.38551496G>CCA352143041SCN5Ac.4873C>G (p.Arg1625Gly)
c.4876C>G (p.Arg1626Gly)
c.4822C>G (p.Arg1608Gly)
c.4714C>G (p.Arg1572Gly)
c.4777C>G (p.Arg1593Gly)
c.4747C>G (p.Arg1583Gly)
c.4819C>G (p.Arg1607Gly)
3g.38551496G=CA1358558229SCN5Ac.4873C= (p.Arg1625=)
c.4876C= (p.Arg1626=)
c.4822C= (p.Arg1608=)
c.4714C= (p.Arg1572=)
c.4777C= (p.Arg1593=)
c.4747C= (p.Arg1583=)
c.4819C= (p.Arg1607=)
3g.38551496G>TCA352143042SCN5Ac.4873C>A (p.Arg1625Ser)
c.4876C>A (p.Arg1626Ser)
c.4822C>A (p.Arg1608Ser)
c.4714C>A (p.Arg1572Ser)
c.4777C>A (p.Arg1593Ser)
c.4747C>A (p.Arg1583Ser)
c.4819C>A (p.Arg1607Ser)
3g.38551497G>ACA433134295SCN5Ac.4872C>T (p.Ile1624=)
c.4875C>T (p.Ile1625=)
c.4821C>T (p.Ile1607=)
c.4713C>T (p.Ile1571=)
c.4776C>T (p.Ile1592=)
c.4746C>T (p.Ile1582=)
c.4818C>T (p.Ile1606=)
3g.38551497G>CCA352143043SCN5Ac.4872C>G (p.Ile1624Met)
c.4875C>G (p.Ile1625Met)
c.4821C>G (p.Ile1607Met)
c.4713C>G (p.Ile1571Met)
c.4776C>G (p.Ile1592Met)
c.4746C>G (p.Ile1582Met)
c.4818C>G (p.Ile1606Met)
3g.38551497G>TCA433134297SCN5Ac.4872C>A (p.Ile1624=)
c.4875C>A (p.Ile1625=)
c.4821C>A (p.Ile1607=)
c.4713C>A (p.Ile1571=)
c.4776C>A (p.Ile1592=)
c.4746C>A (p.Ile1582=)
c.4818C>A (p.Ile1606=)
3g.38551498A>CCA352143044SCN5Ac.4871T>G (p.Ile1624Ser)
c.4874T>G (p.Ile1625Ser)
c.4820T>G (p.Ile1607Ser)
c.4712T>G (p.Ile1571Ser)
c.4775T>G (p.Ile1592Ser)
c.4745T>G (p.Ile1582Ser)
c.4817T>G (p.Ile1606Ser)
3g.38551498A>GCA352143045SCN5Ac.4871T>C (p.Ile1624Thr)
c.4874T>C (p.Ile1625Thr)
c.4820T>C (p.Ile1607Thr)
c.4712T>C (p.Ile1571Thr)
c.4775T>C (p.Ile1592Thr)
c.4745T>C (p.Ile1582Thr)
c.4817T>C (p.Ile1606Thr)
3g.38551498A>TCA352143046SCN5Ac.4871T>A (p.Ile1624Asn)
c.4874T>A (p.Ile1625Asn)
c.4820T>A (p.Ile1607Asn)
c.4712T>A (p.Ile1571Asn)
c.4775T>A (p.Ile1592Asn)
c.4745T>A (p.Ile1582Asn)
c.4817T>A (p.Ile1606Asn)
3g.38551499T>ACA352143047SCN5Ac.4870A>T (p.Ile1624Phe)
c.4873A>T (p.Ile1625Phe)
c.4819A>T (p.Ile1607Phe)
c.4711A>T (p.Ile1571Phe)
c.4774A>T (p.Ile1592Phe)
c.4744A>T (p.Ile1582Phe)
c.4816A>T (p.Ile1606Phe)
3g.38551499T>CCA352143048SCN5Ac.4870A>G (p.Ile1624Val)
c.4873A>G (p.Ile1625Val)
c.4819A>G (p.Ile1607Val)
c.4711A>G (p.Ile1571Val)
c.4774A>G (p.Ile1592Val)
c.4744A>G (p.Ile1582Val)
c.4816A>G (p.Ile1606Val)
3g.38551499T>GCA352143049SCN5Ac.4870A>C (p.Ile1624Leu)
c.4873A>C (p.Ile1625Leu)
c.4819A>C (p.Ile1607Leu)
c.4711A>C (p.Ile1571Leu)
c.4774A>C (p.Ile1592Leu)
c.4744A>C (p.Ile1582Leu)
c.4816A>C (p.Ile1606Leu)
3g.38551500G>ACA433134299SCN5Ac.4869C>T (p.Val1623=)
c.4872C>T (p.Val1624=)
c.4818C>T (p.Val1606=)
c.4710C>T (p.Val1570=)
c.4773C>T (p.Val1591=)
c.4743C>T (p.Val1581=)
c.4815C>T (p.Val1605=)
3g.38551500G>CCA433134300SCN5Ac.4869C>G (p.Val1623=)
c.4872C>G (p.Val1624=)
c.4818C>G (p.Val1606=)
c.4710C>G (p.Val1570=)
c.4773C>G (p.Val1591=)
c.4743C>G (p.Val1581=)
c.4815C>G (p.Val1605=)
3g.38551500G>TCA433134301SCN5Ac.4869C>A (p.Val1623=)
c.4872C>A (p.Val1624=)
c.4818C>A (p.Val1606=)
c.4710C>A (p.Val1570=)
c.4773C>A (p.Val1591=)
c.4743C>A (p.Val1581=)
c.4815C>A (p.Val1605=)
 gnomAD v4
3g.38551501A>CCA352143050SCN5Ac.4868T>G (p.Val1623Gly)
c.4871T>G (p.Val1624Gly)
c.4817T>G (p.Val1606Gly)
c.4709T>G (p.Val1570Gly)
c.4772T>G (p.Val1591Gly)
c.4742T>G (p.Val1581Gly)
c.4814T>G (p.Val1605Gly)
3g.38551501A>GCA352143051SCN5Ac.4868T>C (p.Val1623Ala)
c.4871T>C (p.Val1624Ala)
c.4817T>C (p.Val1606Ala)
c.4709T>C (p.Val1570Ala)
c.4772T>C (p.Val1591Ala)
c.4742T>C (p.Val1581Ala)
c.4814T>C (p.Val1605Ala)
 COSMIC COSMIC COSMIC
3g.38551501A>TCA352143052SCN5Ac.4868T>A (p.Val1623Asp)
c.4871T>A (p.Val1624Asp)
c.4817T>A (p.Val1606Asp)
c.4709T>A (p.Val1570Asp)
c.4772T>A (p.Val1591Asp)
c.4742T>A (p.Val1581Asp)
c.4814T>A (p.Val1605Asp)
 ClinVar
3g.38551502C>ACA352143053SCN5Ac.4867G>T (p.Val1623Phe)
c.4870G>T (p.Val1624Phe)
c.4816G>T (p.Val1606Phe)
c.4708G>T (p.Val1570Phe)
c.4771G>T (p.Val1591Phe)
c.4741G>T (p.Val1581Phe)
c.4813G>T (p.Val1605Phe)
 COSMIC COSMIC COSMIC
3g.38551502C=CA1358558238SCN5Ac.4867G= (p.Val1623=)
c.4870G= (p.Val1624=)
c.4816G= (p.Val1606=)
c.4708G= (p.Val1570=)
c.4771G= (p.Val1591=)
c.4741G= (p.Val1581=)
c.4813G= (p.Val1605=)
3g.38551502C>GCA352143054SCN5Ac.4867G>C (p.Val1623Leu)
c.4870G>C (p.Val1624Leu)
c.4816G>C (p.Val1606Leu)
c.4708G>C (p.Val1570Leu)
c.4771G>C (p.Val1591Leu)
c.4741G>C (p.Val1581Leu)
c.4813G>C (p.Val1605Leu)
3g.38551502C>TCA018686SCN5Ac.4867G>A (p.Val1623Ile)
c.4870G>A (p.Val1624Ile)
c.4816G>A (p.Val1606Ile)
c.4708G>A (p.Val1570Ile)
c.4771G>A (p.Val1591Ile)
c.4741G>A (p.Val1581Ile)
c.4813G>A (p.Val1605Ile)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.38551503T>ACA433134302SCN5Ac.4866A>T (p.Arg1622=)
c.4869A>T (p.Arg1623=)
c.4815A>T (p.Arg1605=)
c.4707A>T (p.Arg1569=)
c.4770A>T (p.Arg1590=)
c.4740A>T (p.Arg1580=)
c.4812A>T (p.Arg1604=)
3g.38551503T>CCA433134304SCN5Ac.4866A>G (p.Arg1622=)
c.4869A>G (p.Arg1623=)
c.4815A>G (p.Arg1605=)
c.4707A>G (p.Arg1569=)
c.4770A>G (p.Arg1590=)
c.4740A>G (p.Arg1580=)
c.4812A>G (p.Arg1604=)
3g.38551503T>GCA433134303SCN5Ac.4866A>C (p.Arg1622=)
c.4869A>C (p.Arg1623=)
c.4815A>C (p.Arg1605=)
c.4707A>C (p.Arg1569=)
c.4770A>C (p.Arg1590=)
c.4740A>C (p.Arg1580=)
c.4812A>C (p.Arg1604=)
 ClinVar
3g.38551504C>ACA018677SCN5Ac.4865G>T (p.Arg1622Leu)
c.4868G>T (p.Arg1623Leu)
c.4814G>T (p.Arg1605Leu)
c.4706G>T (p.Arg1569Leu)
c.4769G>T (p.Arg1590Leu)
c.4739G>T (p.Arg1580Leu)
c.4811G>T (p.Arg1604Leu)
 ClinVar dbSNP
3g.38551504C=CA1358558244SCN5Ac.4865G= (p.Arg1622=)
c.4868G= (p.Arg1623=)
c.4814G= (p.Arg1605=)
c.4706G= (p.Arg1569=)
c.4769G= (p.Arg1590=)
c.4739G= (p.Arg1580=)
c.4811G= (p.Arg1604=)
3g.38551504C>GCA352143055SCN5Ac.4865G>C (p.Arg1622Pro)
c.4868G>C (p.Arg1623Pro)
c.4814G>C (p.Arg1605Pro)
c.4706G>C (p.Arg1569Pro)
c.4769G>C (p.Arg1590Pro)
c.4739G>C (p.Arg1580Pro)
c.4811G>C (p.Arg1604Pro)
3g.38551504C>TCA018670SCN5Ac.4865G>A (p.Arg1622Gln)
c.4868G>A (p.Arg1623Gln)
c.4814G>A (p.Arg1605Gln)
c.4706G>A (p.Arg1569Gln)
c.4769G>A (p.Arg1590Gln)
c.4739G>A (p.Arg1580Gln)
c.4811G>A (p.Arg1604Gln)
 ClinVar dbSNP
3g.38551505G>ACA018662SCN5Ac.4864C>T (p.Arg1622Ter)
c.4867C>T (p.Arg1623Ter)
c.4813C>T (p.Arg1605Ter)
c.4705C>T (p.Arg1569Ter)
c.4768C>T (p.Arg1590Ter)
c.4738C>T (p.Arg1580Ter)
c.4810C>T (p.Arg1604Ter)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.38551505G>CCA352143056SCN5Ac.4864C>G (p.Arg1622Gly)
c.4867C>G (p.Arg1623Gly)
c.4813C>G (p.Arg1605Gly)
c.4705C>G (p.Arg1569Gly)
c.4768C>G (p.Arg1590Gly)
c.4738C>G (p.Arg1580Gly)
c.4810C>G (p.Arg1604Gly)
3g.38551505G=CA1358558252SCN5Ac.4864C= (p.Arg1622=)
c.4867C= (p.Arg1623=)
c.4813C= (p.Arg1605=)
c.4705C= (p.Arg1569=)
c.4768C= (p.Arg1590=)
c.4738C= (p.Arg1580=)
c.4810C= (p.Arg1604=)
3g.38551505G>TCA063889SCN5Ac.4864C>A (p.Arg1622=)
c.4867C>A (p.Arg1623=)
c.4813C>A (p.Arg1605=)
c.4705C>A (p.Arg1569=)
c.4768C>A (p.Arg1590=)
c.4738C>A (p.Arg1580=)
c.4810C>A (p.Arg1604=)
 ClinVar dbSNP ExAC gnomAD v3 gnomAD v4
3g.38551506delCA2586965837SCN5Ac.4864del (p.Arg1622GlufsTer8)
c.4867del (p.Arg1623GlufsTer8)
c.4813del (p.Arg1605GlufsTer8)
c.4705del (p.Arg1569GlufsTer8)
c.4768del (p.Arg1590GlufsTer8)
c.4738del (p.Arg1580GlufsTer8)
c.4810del (p.Arg1604GlufsTer8)
3g.38551505_38551506insTCATGTTCATCTACTCCATCTTTCA916873435SCN5Ac.4863_4864insAAAGATGGAGTAGATGAACATGA (p.Arg1622LysfsTer16)
c.4866_4867insAAAGATGGAGTAGATGAACATGA (p.Arg1623LysfsTer16)
c.4812_4813insAAAGATGGAGTAGATGAACATGA (p.Arg1605LysfsTer16)
c.4704_4705insAAAGATGGAGTAGATGAACATGA (p.Arg1569LysfsTer16)
c.4767_4768insAAAGATGGAGTAGATGAACATGA (p.Arg1590LysfsTer16)
c.4737_4738insAAAGATGGAGTAGATGAACATGA (p.Arg1580LysfsTer16)
c.4809_4810insAAAGATGGAGTAGATGAACATGA (p.Arg1604LysfsTer16)
 dbSNP
3g.38551506G>ACA433134308SCN5Ac.4863C>T (p.Phe1621=)
c.4866C>T (p.Phe1622=)
c.4812C>T (p.Phe1604=)
c.4704C>T (p.Phe1568=)
c.4767C>T (p.Phe1589=)
c.4737C>T (p.Phe1579=)
c.4809C>T (p.Phe1603=)
3g.38551506G>CCA352143058SCN5Ac.4863C>G (p.Phe1621Leu)
c.4866C>G (p.Phe1622Leu)
c.4812C>G (p.Phe1604Leu)
c.4704C>G (p.Phe1568Leu)
c.4767C>G (p.Phe1589Leu)
c.4737C>G (p.Phe1579Leu)
c.4809C>G (p.Phe1603Leu)
 ClinVar gnomAD v4
3g.38551506G>TCA352143057SCN5Ac.4863C>A (p.Phe1621Leu)
c.4866C>A (p.Phe1622Leu)
c.4812C>A (p.Phe1604Leu)
c.4704C>A (p.Phe1568Leu)
c.4767C>A (p.Phe1589Leu)
c.4737C>A (p.Phe1579Leu)
c.4809C>A (p.Phe1603Leu)
3g.38551507A>CCA352143059SCN5Ac.4862T>G (p.Phe1621Cys)
c.4865T>G (p.Phe1622Cys)
c.4811T>G (p.Phe1604Cys)
c.4703T>G (p.Phe1568Cys)
c.4766T>G (p.Phe1589Cys)
c.4736T>G (p.Phe1579Cys)
c.4808T>G (p.Phe1603Cys)
3g.38551507A>GCA352143060SCN5Ac.4862T>C (p.Phe1621Ser)
c.4865T>C (p.Phe1622Ser)
c.4811T>C (p.Phe1604Ser)
c.4703T>C (p.Phe1568Ser)
c.4766T>C (p.Phe1589Ser)
c.4736T>C (p.Phe1579Ser)
c.4808T>C (p.Phe1603Ser)
3g.38551507A>TCA352143061SCN5Ac.4862T>A (p.Phe1621Tyr)
c.4865T>A (p.Phe1622Tyr)
c.4811T>A (p.Phe1604Tyr)
c.4703T>A (p.Phe1568Tyr)
c.4766T>A (p.Phe1589Tyr)
c.4736T>A (p.Phe1579Tyr)
c.4808T>A (p.Phe1603Tyr)
3g.38551508A>CCA352143062SCN5Ac.4861T>G (p.Phe1621Val)
c.4864T>G (p.Phe1622Val)
c.4810T>G (p.Phe1604Val)
c.4702T>G (p.Phe1568Val)
c.4765T>G (p.Phe1589Val)
c.4735T>G (p.Phe1579Val)
c.4807T>G (p.Phe1603Val)
3g.38551508A>GCA352143063SCN5Ac.4861T>C (p.Phe1621Leu)
c.4864T>C (p.Phe1622Leu)
c.4810T>C (p.Phe1604Leu)
c.4702T>C (p.Phe1568Leu)
c.4765T>C (p.Phe1589Leu)
c.4735T>C (p.Phe1579Leu)
c.4807T>C (p.Phe1603Leu)
3g.38551508A>TCA352143064SCN5Ac.4861T>A (p.Phe1621Ile)
c.4864T>A (p.Phe1622Ile)
c.4810T>A (p.Phe1604Ile)
c.4702T>A (p.Phe1568Ile)
c.4765T>A (p.Phe1589Ile)
c.4735T>A (p.Phe1579Ile)
c.4807T>A (p.Phe1603Ile)
3g.38551509G>ACA433134311SCN5Ac.4860C>T (p.Leu1620=)
c.4863C>T (p.Leu1621=)
c.4809C>T (p.Leu1603=)
c.4701C>T (p.Leu1567=)
c.4764C>T (p.Leu1588=)
c.4734C>T (p.Leu1578=)
c.4806C>T (p.Leu1602=)
 ClinVar COSMIC COSMIC COSMIC
3g.38551509G>CCA433134312SCN5Ac.4860C>G (p.Leu1620=)
c.4863C>G (p.Leu1621=)
c.4809C>G (p.Leu1603=)
c.4701C>G (p.Leu1567=)
c.4764C>G (p.Leu1588=)
c.4734C>G (p.Leu1578=)
c.4806C>G (p.Leu1602=)
3g.38551509G=CA1358558261SCN5Ac.4860C= (p.Leu1620=)
c.4863C= (p.Leu1621=)
c.4809C= (p.Leu1603=)
c.4701C= (p.Leu1567=)
c.4764C= (p.Leu1588=)
c.4734C= (p.Leu1578=)
c.4806C= (p.Leu1602=)
3g.38551509G>TCA433134313SCN5Ac.4860C>A (p.Leu1620=)
c.4863C>A (p.Leu1621=)
c.4809C>A (p.Leu1603=)
c.4701C>A (p.Leu1567=)
c.4764C>A (p.Leu1588=)
c.4734C>A (p.Leu1578=)
c.4806C>A (p.Leu1602=)
 ClinVar dbSNP
3g.38551510A>CCA352143065SCN5Ac.4859T>G (p.Leu1620Arg)
c.4862T>G (p.Leu1621Arg)
c.4808T>G (p.Leu1603Arg)
c.4700T>G (p.Leu1567Arg)
c.4763T>G (p.Leu1588Arg)
c.4733T>G (p.Leu1578Arg)
c.4805T>G (p.Leu1602Arg)
3g.38551510A>GCA352143067SCN5Ac.4859T>C (p.Leu1620Pro)
c.4862T>C (p.Leu1621Pro)
c.4808T>C (p.Leu1603Pro)
c.4700T>C (p.Leu1567Pro)
c.4763T>C (p.Leu1588Pro)
c.4733T>C (p.Leu1578Pro)
c.4805T>C (p.Leu1602Pro)
3g.38551510A>TCA352143066SCN5Ac.4859T>A (p.Leu1620His)
c.4862T>A (p.Leu1621His)
c.4808T>A (p.Leu1603His)
c.4700T>A (p.Leu1567His)
c.4763T>A (p.Leu1588His)
c.4733T>A (p.Leu1578His)
c.4805T>A (p.Leu1602His)
3g.38551511G>ACA352143068SCN5Ac.4858C>T (p.Leu1620Phe)
c.4861C>T (p.Leu1621Phe)
c.4807C>T (p.Leu1603Phe)
c.4699C>T (p.Leu1567Phe)
c.4762C>T (p.Leu1588Phe)
c.4732C>T (p.Leu1578Phe)
c.4804C>T (p.Leu1602Phe)
 gnomAD v4
3g.38551511G>CCA352143069SCN5Ac.4858C>G (p.Leu1620Val)
c.4861C>G (p.Leu1621Val)
c.4807C>G (p.Leu1603Val)
c.4699C>G (p.Leu1567Val)
c.4762C>G (p.Leu1588Val)
c.4732C>G (p.Leu1578Val)
c.4804C>G (p.Leu1602Val)
3g.38551511G>TCA352143070SCN5Ac.4858C>A (p.Leu1620Ile)
c.4861C>A (p.Leu1621Ile)
c.4807C>A (p.Leu1603Ile)
c.4699C>A (p.Leu1567Ile)
c.4762C>A (p.Leu1588Ile)
c.4732C>A (p.Leu1578Ile)
c.4804C>A (p.Leu1602Ile)
3g.38551512C>ACA433134314SCN5Ac.4857G>T (p.Thr1619=)
c.4860G>T (p.Thr1620=)
c.4806G>T (p.Thr1602=)
c.4698G>T (p.Thr1566=)
c.4761G>T (p.Thr1587=)
c.4731G>T (p.Thr1577=)
c.4803G>T (p.Thr1601=)
3g.38551512C=CA1358558266SCN5Ac.4857G= (p.Thr1619=)
c.4860G= (p.Thr1620=)
c.4806G= (p.Thr1602=)
c.4698G= (p.Thr1566=)
c.4761G= (p.Thr1587=)
c.4731G= (p.Thr1577=)
c.4803G= (p.Thr1601=)
3g.38551512C>GCA433134315SCN5Ac.4857G>C (p.Thr1619=)
c.4860G>C (p.Thr1620=)
c.4806G>C (p.Thr1602=)
c.4698G>C (p.Thr1566=)
c.4761G>C (p.Thr1587=)
c.4731G>C (p.Thr1577=)
c.4803G>C (p.Thr1601=)
3g.38551512C>TCA063884SCN5Ac.4857G>A (p.Thr1619=)
c.4860G>A (p.Thr1620=)
c.4806G>A (p.Thr1602=)
c.4698G>A (p.Thr1566=)
c.4761G>A (p.Thr1587=)
c.4731G>A (p.Thr1577=)
c.4803G>A (p.Thr1601=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38551513G>ACA018653SCN5Ac.4856C>T (p.Thr1619Met)
c.4859C>T (p.Thr1620Met)
c.4805C>T (p.Thr1602Met)
c.4697C>T (p.Thr1566Met)
c.4760C>T (p.Thr1587Met)
c.4730C>T (p.Thr1577Met)
c.4802C>T (p.Thr1601Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.[38551513G>A;38566555G>A]CA085295SCN5Ac.[3691C>T;4856C>T] (p.[Arg1231Trp;Thr1619Met])
c.[3694C>T;4859C>T] (p.[Arg1232Trp;Thr1620Met])
c.[3694C>T;4805C>T] (p.[Arg1232Trp;Thr1602Met])
c.[3532C>T;4697C>T] (p.[Arg1178Trp;Thr1566Met])
c.[3691C>T;4760C>T] (p.[Arg1231Trp;Thr1587Met])
c.[3565C>T;4730C>T] (p.[Arg1189Trp;Thr1577Met])
c.[3691C>T;4802C>T] (p.[Arg1231Trp;Thr1601Met])
3g.38551513G>CCA352143071SCN5Ac.4856C>G (p.Thr1619Arg)
c.4859C>G (p.Thr1620Arg)
c.4805C>G (p.Thr1602Arg)
c.4697C>G (p.Thr1566Arg)
c.4760C>G (p.Thr1587Arg)
c.4730C>G (p.Thr1577Arg)
c.4802C>G (p.Thr1601Arg)
3g.38551513G=CA1358558272SCN5Ac.4856C= (p.Thr1619=)
c.4859C= (p.Thr1620=)
c.4805C= (p.Thr1602=)
c.4697C= (p.Thr1566=)
c.4760C= (p.Thr1587=)
c.4730C= (p.Thr1577=)
c.4802C= (p.Thr1601=)
3g.38551513G>TCA018648SCN5Ac.4856C>A (p.Thr1619Lys)
c.4859C>A (p.Thr1620Lys)
c.4805C>A (p.Thr1602Lys)
c.4697C>A (p.Thr1566Lys)
c.4760C>A (p.Thr1587Lys)
c.4730C>A (p.Thr1577Lys)
c.4802C>A (p.Thr1601Lys)
 ClinVar dbSNP
3g.38551514T>ACA352143072SCN5Ac.4855A>T (p.Thr1619Ser)
c.4858A>T (p.Thr1620Ser)
c.4804A>T (p.Thr1602Ser)
c.4696A>T (p.Thr1566Ser)
c.4759A>T (p.Thr1587Ser)
c.4729A>T (p.Thr1577Ser)
c.4801A>T (p.Thr1601Ser)
3g.38551514T>CCA352143073SCN5Ac.4855A>G (p.Thr1619Ala)
c.4858A>G (p.Thr1620Ala)
c.4804A>G (p.Thr1602Ala)
c.4696A>G (p.Thr1566Ala)
c.4759A>G (p.Thr1587Ala)
c.4729A>G (p.Thr1577Ala)
c.4801A>G (p.Thr1601Ala)
3g.38551514T>GCA352143074SCN5Ac.4855A>C (p.Thr1619Pro)
c.4858A>C (p.Thr1620Pro)
c.4804A>C (p.Thr1602Pro)
c.4696A>C (p.Thr1566Pro)
c.4759A>C (p.Thr1587Pro)
c.4729A>C (p.Thr1577Pro)
c.4801A>C (p.Thr1601Pro)
3g.38551515C>ACA433134317SCN5Ac.4854G>T (p.Pro1618=)
c.4857G>T (p.Pro1619=)
c.4803G>T (p.Pro1601=)
c.4695G>T (p.Pro1565=)
c.4758G>T (p.Pro1586=)
c.4728G>T (p.Pro1576=)
c.4800G>T (p.Pro1600=)
 gnomAD v4
3g.38551515C=CA1358558282SCN5Ac.4854G= (p.Pro1618=)
c.4857G= (p.Pro1619=)
c.4803G= (p.Pro1601=)
c.4695G= (p.Pro1565=)
c.4758G= (p.Pro1586=)
c.4728G= (p.Pro1576=)
c.4800G= (p.Pro1600=)
3g.38551515C>GCA063871SCN5Ac.4854G>C (p.Pro1618=)
c.4857G>C (p.Pro1619=)
c.4803G>C (p.Pro1601=)
c.4695G>C (p.Pro1565=)
c.4758G>C (p.Pro1586=)
c.4728G>C (p.Pro1576=)
c.4800G>C (p.Pro1600=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.38551515C>TCA063861SCN5Ac.4854G>A (p.Pro1618=)
c.4857G>A (p.Pro1619=)
c.4803G>A (p.Pro1601=)
c.4695G>A (p.Pro1565=)
c.4758G>A (p.Pro1586=)
c.4728G>A (p.Pro1576=)
c.4800G>A (p.Pro1600=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38551515_38551516delinsCGCA1358558284SCN5Ac.4853_4854delinsCG (p.Pro1618=)
c.4856_4857delinsCG (p.Pro1619=)
c.4802_4803delinsCG (p.Pro1601=)
c.4694_4695delinsCG (p.Pro1565=)
c.4757_4758delinsCG (p.Pro1586=)
c.4727_4728delinsCG (p.Pro1576=)
c.4799_4800delinsCG (p.Pro1600=)
3g.38551516G>ACA352143076SCN5Ac.4853C>T (p.Pro1618Leu)
c.4856C>T (p.Pro1619Leu)
c.4802C>T (p.Pro1601Leu)
c.4694C>T (p.Pro1565Leu)
c.4757C>T (p.Pro1586Leu)
c.4727C>T (p.Pro1576Leu)
c.4799C>T (p.Pro1600Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.38551516G>CCA352143075SCN5Ac.4853C>G (p.Pro1618Arg)
c.4856C>G (p.Pro1619Arg)
c.4802C>G (p.Pro1601Arg)
c.4694C>G (p.Pro1565Arg)
c.4757C>G (p.Pro1586Arg)
c.4727C>G (p.Pro1576Arg)
c.4799C>G (p.Pro1600Arg)
3g.38551516G=CA1358558290SCN5Ac.4853C= (p.Pro1618=)
c.4856C= (p.Pro1619=)
c.4802C= (p.Pro1601=)
c.4694C= (p.Pro1565=)
c.4757C= (p.Pro1586=)
c.4727C= (p.Pro1576=)
c.4799C= (p.Pro1600=)
3g.38551516G>TCA063855SCN5Ac.4853C>A (p.Pro1618Gln)
c.4856C>A (p.Pro1619Gln)
c.4802C>A (p.Pro1601Gln)
c.4694C>A (p.Pro1565Gln)
c.4757C>A (p.Pro1586Gln)
c.4727C>A (p.Pro1576Gln)
c.4799C>A (p.Pro1600Gln)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC
3g.38551519delCA915942426SCN5Ac.4853del (p.Pro1618ArgfsTer12)
c.4856del (p.Pro1619ArgfsTer12)
c.4802del (p.Pro1601ArgfsTer12)
c.4694del (p.Pro1565ArgfsTer12)
c.4757del (p.Pro1586ArgfsTer12)
c.4727del (p.Pro1576ArgfsTer12)
c.4799del (p.Pro1600ArgfsTer12)
 ClinVar dbSNP
3g.38551516_38551517insTGTACA542269479SCN5Ac.4852_4853insTACA (p.Pro1618LeufsTer?)
c.4855_4856insTACA (p.Pro1619LeufsTer?)
c.4801_4802insTACA (p.Pro1601LeufsTer?)
c.4693_4694insTACA (p.Pro1565LeufsTer?)
c.4756_4757insTACA (p.Pro1586LeufsTer?)
c.4726_4727insTACA (p.Pro1576LeufsTer?)
c.4798_4799insTACA (p.Pro1600LeufsTer?)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.38551517G>ACA352143079SCN5Ac.4852C>T (p.Pro1618Ser)
c.4855C>T (p.Pro1619Ser)
c.4801C>T (p.Pro1601Ser)
c.4693C>T (p.Pro1565Ser)
c.4756C>T (p.Pro1586Ser)
c.4726C>T (p.Pro1576Ser)
c.4798C>T (p.Pro1600Ser)
 COSMIC COSMIC COSMIC
3g.38551517G>CCA352143077SCN5Ac.4852C>G (p.Pro1618Ala)
c.4855C>G (p.Pro1619Ala)
c.4801C>G (p.Pro1601Ala)
c.4693C>G (p.Pro1565Ala)
c.4756C>G (p.Pro1586Ala)
c.4726C>G (p.Pro1576Ala)
c.4798C>G (p.Pro1600Ala)
3g.38551517G>TCA352143078SCN5Ac.4852C>A (p.Pro1618Thr)
c.4855C>A (p.Pro1619Thr)
c.4801C>A (p.Pro1601Thr)
c.4693C>A (p.Pro1565Thr)
c.4756C>A (p.Pro1586Thr)
c.4726C>A (p.Pro1576Thr)
c.4798C>A (p.Pro1600Thr)
 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
3g.38551518G>ACA433134322SCN5Ac.4851C>T (p.Ser1617=)
c.4854C>T (p.Ser1618=)
c.4800C>T (p.Ser1600=)
c.4692C>T (p.Ser1564=)
c.4755C>T (p.Ser1585=)
c.4725C>T (p.Ser1575=)
c.4797C>T (p.Ser1599=)
3g.38551518G>CCA433134324SCN5Ac.4851C>G (p.Ser1617=)
c.4854C>G (p.Ser1618=)
c.4800C>G (p.Ser1600=)
c.4692C>G (p.Ser1564=)
c.4755C>G (p.Ser1585=)
c.4725C>G (p.Ser1575=)
c.4797C>G (p.Ser1599=)
3g.38551518G>TCA433134326SCN5Ac.4851C>A (p.Ser1617=)
c.4854C>A (p.Ser1618=)
c.4800C>A (p.Ser1600=)
c.4692C>A (p.Ser1564=)
c.4755C>A (p.Ser1585=)
c.4725C>A (p.Ser1575=)
c.4797C>A (p.Ser1599=)
3g.38551519G>ACA352143080SCN5Ac.4850C>T (p.Ser1617Phe)
c.4853C>T (p.Ser1618Phe)
c.4799C>T (p.Ser1600Phe)
c.4691C>T (p.Ser1564Phe)
c.4754C>T (p.Ser1585Phe)
c.4724C>T (p.Ser1575Phe)
c.4796C>T (p.Ser1599Phe)
 COSMIC COSMIC COSMIC
3g.38551519G>CCA352143081SCN5Ac.4850C>G (p.Ser1617Cys)
c.4853C>G (p.Ser1618Cys)
c.4799C>G (p.Ser1600Cys)
c.4691C>G (p.Ser1564Cys)
c.4754C>G (p.Ser1585Cys)
c.4724C>G (p.Ser1575Cys)
c.4796C>G (p.Ser1599Cys)
3g.38551519G>TCA352143082SCN5Ac.4850C>A (p.Ser1617Tyr)
c.4853C>A (p.Ser1618Tyr)
c.4799C>A (p.Ser1600Tyr)
c.4691C>A (p.Ser1564Tyr)
c.4754C>A (p.Ser1585Tyr)
c.4724C>A (p.Ser1575Tyr)
c.4796C>A (p.Ser1599Tyr)
 gnomAD v3 gnomAD v4
3g.38551519_38551522delinsGAGACA1358558301SCN5Ac.4847_4850delinsTCTC (p.Phe1616=)
c.4850_4853delinsTCTC (p.Phe1617=)
c.4796_4799delinsTCTC (p.Phe1599=)
c.4688_4691delinsTCTC (p.Phe1563=)
c.4751_4754delinsTCTC (p.Phe1584=)
c.4721_4724delinsTCTC (p.Phe1574=)
c.4793_4796delinsTCTC (p.Phe1598=)
3g.38551520A>CCA352143085SCN5Ac.4849T>G (p.Ser1617Ala)
c.4852T>G (p.Ser1618Ala)
c.4798T>G (p.Ser1600Ala)
c.4690T>G (p.Ser1564Ala)
c.4753T>G (p.Ser1585Ala)
c.4723T>G (p.Ser1575Ala)
c.4795T>G (p.Ser1599Ala)
3g.38551520A>GCA352143084SCN5Ac.4849T>C (p.Ser1617Pro)
c.4852T>C (p.Ser1618Pro)
c.4798T>C (p.Ser1600Pro)
c.4690T>C (p.Ser1564Pro)
c.4753T>C (p.Ser1585Pro)
c.4723T>C (p.Ser1575Pro)
c.4795T>C (p.Ser1599Pro)
3g.38551520A>TCA352143083SCN5Ac.4849T>A (p.Ser1617Thr)
c.4852T>A (p.Ser1618Thr)
c.4798T>A (p.Ser1600Thr)
c.4690T>A (p.Ser1564Thr)
c.4753T>A (p.Ser1585Thr)
c.4723T>A (p.Ser1575Thr)
c.4795T>A (p.Ser1599Thr)
3g.38551520_38551521insAACA1046986747SCN5Ac.4849_4850insTT (p.Ser1617PhefsTer14)
c.4852_4853insTT (p.Ser1618PhefsTer14)
c.4798_4799insTT (p.Ser1600PhefsTer14)
c.4690_4691insTT (p.Ser1564PhefsTer14)
c.4753_4754insTT (p.Ser1585PhefsTer14)
c.4723_4724insTT (p.Ser1575PhefsTer14)
c.4795_4796insTT (p.Ser1599PhefsTer14)
 gnomAD v3 gnomAD v4
3g.38551520_38551521delinsAGCA1358558307SCN5Ac.4848_4849delinsCT (p.Phe1616=)
c.4851_4852delinsCT (p.Phe1617=)
c.4797_4798delinsCT (p.Phe1599=)
c.4689_4690delinsCT (p.Phe1563=)
c.4752_4753delinsCT (p.Phe1584=)
c.4722_4723delinsCT (p.Phe1574=)
c.4794_4795delinsCT (p.Phe1598=)
3g.38551520_38551523delCA1046986755SCN5Ac.4846_4849del (p.Phe1616ProfsTer13)
c.4849_4852del (p.Phe1617ProfsTer13)
c.4795_4798del (p.Phe1599ProfsTer13)
c.4687_4690del (p.Phe1563ProfsTer13)
c.4750_4753del (p.Phe1584ProfsTer13)
c.4720_4723del (p.Phe1574ProfsTer13)
c.4792_4795del (p.Phe1598ProfsTer13)
 gnomAD v3 gnomAD v4
3g.38551525_38551527delCA018642SCN5Ac.4847_4849del (p.Phe1616del)
c.4850_4852del (p.Phe1617del)
c.4796_4798del (p.Phe1599del)
c.4688_4690del (p.Phe1563del)
c.4751_4753del (p.Phe1584del)
c.4721_4723del (p.Phe1574del)
c.4793_4795del (p.Phe1598del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC
3g.38551521delCA542269480SCN5Ac.4848del (p.Ser1617ProfsTer13)
c.4851del (p.Ser1618ProfsTer13)
c.4797del (p.Ser1600ProfsTer13)
c.4689del (p.Ser1564ProfsTer13)
c.4752del (p.Ser1585ProfsTer13)
c.4722del (p.Ser1575ProfsTer13)
c.4794del (p.Ser1599ProfsTer13)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.38551521G>ACA433134329SCN5Ac.4848C>T (p.Phe1616=)
c.4851C>T (p.Phe1617=)
c.4797C>T (p.Phe1599=)
c.4689C>T (p.Phe1563=)
c.4752C>T (p.Phe1584=)
c.4722C>T (p.Phe1574=)
c.4794C>T (p.Phe1598=)
 dbSNP gnomAD v4
3g.38551521G>CCA352143086SCN5Ac.4848C>G (p.Phe1616Leu)
c.4851C>G (p.Phe1617Leu)
c.4797C>G (p.Phe1599Leu)
c.4689C>G (p.Phe1563Leu)
c.4752C>G (p.Phe1584Leu)
c.4722C>G (p.Phe1574Leu)
c.4794C>G (p.Phe1598Leu)
3g.38551521G=CA1358558311SCN5Ac.4848C= (p.Phe1616=)
c.4851C= (p.Phe1617=)
c.4797C= (p.Phe1599=)
c.4689C= (p.Phe1563=)
c.4752C= (p.Phe1584=)
c.4722C= (p.Phe1574=)
c.4794C= (p.Phe1598=)
3g.38551521G>TCA352143087SCN5Ac.4848C>A (p.Phe1616Leu)
c.4851C>A (p.Phe1617Leu)
c.4797C>A (p.Phe1599Leu)
c.4689C>A (p.Phe1563Leu)
c.4752C>A (p.Phe1584Leu)
c.4722C>A (p.Phe1574Leu)
c.4794C>A (p.Phe1598Leu)
3g.38551521_38551522insGGACA1046986931SCN5Ac.4847_4848insTCC (p.Phe1616_Ser1617insPro)
c.4850_4851insTCC (p.Phe1617_Ser1618insPro)
c.4796_4797insTCC (p.Phe1599_Ser1600insPro)
c.4688_4689insTCC (p.Phe1563_Ser1564insPro)
c.4751_4752insTCC (p.Phe1584_Ser1585insPro)
c.4721_4722insTCC (p.Phe1574_Ser1575insPro)
c.4793_4794insTCC (p.Phe1598_Ser1599insPro)
 gnomAD v3 gnomAD v4
3g.38551522A>CCA352143088SCN5Ac.4847T>G (p.Phe1616Cys)
c.4850T>G (p.Phe1617Cys)
c.4796T>G (p.Phe1599Cys)
c.4688T>G (p.Phe1563Cys)
c.4751T>G (p.Phe1584Cys)
c.4721T>G (p.Phe1574Cys)
c.4793T>G (p.Phe1598Cys)
3g.38551522A>GCA352143089SCN5Ac.4847T>C (p.Phe1616Ser)
c.4850T>C (p.Phe1617Ser)
c.4796T>C (p.Phe1599Ser)
c.4688T>C (p.Phe1563Ser)
c.4751T>C (p.Phe1584Ser)
c.4721T>C (p.Phe1574Ser)
c.4793T>C (p.Phe1598Ser)
 gnomAD v3 gnomAD v4
3g.38551522A>TCA352143090SCN5Ac.4847T>A (p.Phe1616Tyr)
c.4850T>A (p.Phe1617Tyr)
c.4796T>A (p.Phe1599Tyr)
c.4688T>A (p.Phe1563Tyr)
c.4751T>A (p.Phe1584Tyr)
c.4721T>A (p.Phe1574Tyr)
c.4793T>A (p.Phe1598Tyr)
3g.38551522_38551523insGTGTTAATAGCAGTGTAGATCTCGGTGGTCGCCGTATCATTAAAAACA1046986927SCN5Ac.4847_4848insTTTTAATGATACGGCGACCACCGAGATCTACACTGCTATTAACACT (p.Ser1617PhefsTer?)
c.4850_4851insTTTTAATGATACGGCGACCACCGAGATCTACACTGCTATTAACACT (p.Ser1618PhefsTer?)
c.4796_4797insTTTTAATGATACGGCGACCACCGAGATCTACACTGCTATTAACACT (p.Ser1600PhefsTer?)
c.4688_4689insTTTTAATGATACGGCGACCACCGAGATCTACACTGCTATTAACACT (p.Ser1564PhefsTer?)
c.4751_4752insTTTTAATGATACGGCGACCACCGAGATCTACACTGCTATTAACACT (p.Ser1585PhefsTer?)
c.4721_4722insTTTTAATGATACGGCGACCACCGAGATCTACACTGCTATTAACACT (p.Ser1575PhefsTer?)
c.4793_4794insTTTTAATGATACGGCGACCACCGAGATCTACACTGCTATTAACACT (p.Ser1599PhefsTer?)
 gnomAD v3 gnomAD v4
3g.38551523A=CA1358558313SCN5Ac.4846T= (p.Phe1616=)
c.4849T= (p.Phe1617=)
c.4795T= (p.Phe1599=)
c.4687T= (p.Phe1563=)
c.4750T= (p.Phe1584=)
c.4720T= (p.Phe1574=)
c.4792T= (p.Phe1598=)
3g.38551523A>CCA352143091SCN5Ac.4846T>G (p.Phe1616Val)
c.4849T>G (p.Phe1617Val)
c.4795T>G (p.Phe1599Val)
c.4687T>G (p.Phe1563Val)
c.4750T>G (p.Phe1584Val)
c.4720T>G (p.Phe1574Val)
c.4792T>G (p.Phe1598Val)
 dbSNP
3g.38551523A>GCA352143093SCN5Ac.4846T>C (p.Phe1616Leu)
c.4849T>C (p.Phe1617Leu)
c.4795T>C (p.Phe1599Leu)
c.4687T>C (p.Phe1563Leu)
c.4750T>C (p.Phe1584Leu)
c.4720T>C (p.Phe1574Leu)
c.4792T>C (p.Phe1598Leu)
 ClinVar gnomAD v3 gnomAD v4
3g.38551523A>TCA352143092SCN5Ac.4846T>A (p.Phe1616Ile)
c.4849T>A (p.Phe1617Ile)
c.4795T>A (p.Phe1599Ile)
c.4687T>A (p.Phe1563Ile)
c.4750T>A (p.Phe1584Ile)
c.4720T>A (p.Phe1574Ile)
c.4792T>A (p.Phe1598Ile)
3g.38551524G>ACA018636SCN5Ac.4845C>T (p.Phe1615=)
c.4848C>T (p.Phe1616=)
c.4794C>T (p.Phe1598=)
c.4686C>T (p.Phe1562=)
c.4749C>T (p.Phe1583=)
c.4719C>T (p.Phe1573=)
c.4791C>T (p.Phe1597=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38551524G>CCA352143094SCN5Ac.4845C>G (p.Phe1615Leu)
c.4848C>G (p.Phe1616Leu)
c.4794C>G (p.Phe1598Leu)
c.4686C>G (p.Phe1562Leu)
c.4749C>G (p.Phe1583Leu)
c.4719C>G (p.Phe1573Leu)
c.4791C>G (p.Phe1597Leu)
3g.38551524G=CA1358558318SCN5Ac.4845C= (p.Phe1615=)
c.4848C= (p.Phe1616=)
c.4794C= (p.Phe1598=)
c.4686C= (p.Phe1562=)
c.4749C= (p.Phe1583=)
c.4719C= (p.Phe1573=)
c.4791C= (p.Phe1597=)
3g.38551524G>TCA352143095SCN5Ac.4845C>A (p.Phe1615Leu)
c.4848C>A (p.Phe1616Leu)
c.4794C>A (p.Phe1598Leu)
c.4686C>A (p.Phe1562Leu)
c.4749C>A (p.Phe1583Leu)
c.4719C>A (p.Phe1573Leu)
c.4791C>A (p.Phe1597Leu)
3g.38551524_38551525delinsGACA1358558320SCN5Ac.4844_4845delinsTC (p.Phe1615=)
c.4847_4848delinsTC (p.Phe1616=)
c.4793_4794delinsTC (p.Phe1598=)
c.4685_4686delinsTC (p.Phe1562=)
c.4748_4749delinsTC (p.Phe1583=)
c.4718_4719delinsTC (p.Phe1573=)
c.4790_4791delinsTC (p.Phe1597=)
3g.38551524_38551525insGACA1046986948SCN5Ac.4844_4845insTC (p.Phe1616ProfsTer15)
c.4847_4848insTC (p.Phe1617ProfsTer15)
c.4793_4794insTC (p.Phe1599ProfsTer15)
c.4685_4686insTC (p.Phe1563ProfsTer15)
c.4748_4749insTC (p.Phe1584ProfsTer15)
c.4718_4719insTC (p.Phe1574ProfsTer15)
c.4790_4791insTC (p.Phe1598ProfsTer15)
 gnomAD v3 gnomAD v4
3g.38551525A=CA1358558329SCN5Ac.4844T= (p.Phe1615=)
c.4847T= (p.Phe1616=)
c.4793T= (p.Phe1598=)
c.4685T= (p.Phe1562=)
c.4748T= (p.Phe1583=)
c.4718T= (p.Phe1573=)
c.4790T= (p.Phe1597=)
3g.38551525A>CCA352143096SCN5Ac.4844T>G (p.Phe1615Cys)
c.4847T>G (p.Phe1616Cys)
c.4793T>G (p.Phe1598Cys)
c.4685T>G (p.Phe1562Cys)
c.4748T>G (p.Phe1583Cys)
c.4718T>G (p.Phe1573Cys)
c.4790T>G (p.Phe1597Cys)
3g.38551525A>GCA352143097SCN5Ac.4844T>C (p.Phe1615Ser)
c.4847T>C (p.Phe1616Ser)
c.4793T>C (p.Phe1598Ser)
c.4685T>C (p.Phe1562Ser)
c.4748T>C (p.Phe1583Ser)
c.4718T>C (p.Phe1573Ser)
c.4790T>C (p.Phe1597Ser)
 ClinVar
3g.38551525A>TCA352143098SCN5Ac.4844T>A (p.Phe1615Tyr)
c.4847T>A (p.Phe1616Tyr)
c.4793T>A (p.Phe1598Tyr)
c.4685T>A (p.Phe1562Tyr)
c.4748T>A (p.Phe1583Tyr)
c.4718T>A (p.Phe1573Tyr)
c.4790T>A (p.Phe1597Tyr)
 dbSNP
3g.38551525_38551526insGTGTATCGGAGCGTGTAGATCTCGGTGGTCGCCGTATCATTAAAAACA1046986946SCN5Ac.4844_4845insTTTTAATGATACGGCGACCACCGAGATCTACACGCTCCGATACACT (p.Ser1617AsnfsTer?)
c.4847_4848insTTTTAATGATACGGCGACCACCGAGATCTACACGCTCCGATACACT (p.Ser1618AsnfsTer?)
c.4793_4794insTTTTAATGATACGGCGACCACCGAGATCTACACGCTCCGATACACT (p.Ser1600AsnfsTer?)
c.4685_4686insTTTTAATGATACGGCGACCACCGAGATCTACACGCTCCGATACACT (p.Ser1564AsnfsTer?)
c.4748_4749insTTTTAATGATACGGCGACCACCGAGATCTACACGCTCCGATACACT (p.Ser1585AsnfsTer?)
c.4718_4719insTTTTAATGATACGGCGACCACCGAGATCTACACGCTCCGATACACT (p.Ser1575AsnfsTer?)
c.4790_4791insTTTTAATGATACGGCGACCACCGAGATCTACACGCTCCGATACACT (p.Ser1599AsnfsTer?)
 gnomAD v3 gnomAD v4
3g.38551526delCA1046986952SCN5Ac.4844del (p.Phe1615SerfsTer15)
c.4847del (p.Phe1616SerfsTer15)
c.4793del (p.Phe1598SerfsTer15)
c.4685del (p.Phe1562SerfsTer15)
c.4748del (p.Phe1583SerfsTer15)
c.4718del (p.Phe1573SerfsTer15)
c.4790del (p.Phe1597SerfsTer15)
 dbSNP gnomAD v3 gnomAD v4
3g.38551525_38551527delinsAAGCA1358558331SCN5Ac.4842_4844delinsCTT (p.Tyr1614=)
c.4845_4847delinsCTT (p.Tyr1615=)
c.4791_4793delinsCTT (p.Tyr1597=)
c.4683_4685delinsCTT (p.Tyr1561=)
c.4746_4748delinsCTT (p.Tyr1582=)
c.4716_4718delinsCTT (p.Tyr1572=)
c.4788_4790delinsCTT (p.Tyr1596=)
3g.38551525_38551527delinsTACCA335886SCN5Ac.4842_4844delinsGTA (p.Tyr1614Ter)
c.4845_4847delinsGTA (p.Tyr1615Ter)
c.4791_4793delinsGTA (p.Tyr1597Ter)
c.4683_4685delinsGTA (p.Tyr1561Ter)
c.4746_4748delinsGTA (p.Tyr1582Ter)
c.4716_4718delinsGTA (p.Tyr1572Ter)
c.4788_4790delinsGTA (p.Tyr1596Ter)
 ClinVar dbSNP
3g.38551525_38551526insGCA1046986960SCN5Ac.4843_4844insC (p.Phe1615SerfsTer?)
c.4846_4847insC (p.Phe1616SerfsTer?)
c.4792_4793insC (p.Phe1598SerfsTer?)
c.4684_4685insC (p.Phe1562SerfsTer?)
c.4747_4748insC (p.Phe1583SerfsTer?)
c.4717_4718insC (p.Phe1573SerfsTer?)
c.4789_4790insC (p.Phe1597SerfsTer?)
 gnomAD v3 gnomAD v4
3g.38551525_38551526insGTGCA2554585642SCN5Ac.4843_4844insCAC (p.Phe1615delinsSerLeu)
c.4846_4847insCAC (p.Phe1616delinsSerLeu)
c.4792_4793insCAC (p.Phe1598delinsSerLeu)
c.4684_4685insCAC (p.Phe1562delinsSerLeu)
c.4747_4748insCAC (p.Phe1583delinsSerLeu)
c.4717_4718insCAC (p.Phe1573delinsSerLeu)
c.4789_4790insCAC (p.Phe1597delinsSerLeu)
3g.38551525_38551526insGTGTCCA1046986969SCN5Ac.4843_4844insGACAC (p.Phe1615Ter)
c.4846_4847insGACAC (p.Phe1616Ter)
c.4792_4793insGACAC (p.Phe1598Ter)
c.4684_4685insGACAC (p.Phe1562Ter)
c.4747_4748insGACAC (p.Phe1583Ter)
c.4717_4718insGACAC (p.Phe1573Ter)
c.4789_4790insGACAC (p.Phe1597Ter)
 gnomAD v3 gnomAD v4
3g.38551525_38551526insGTGTTCA1046986962SCN5Ac.4843_4844insAACAC (p.Phe1615Ter)
c.4846_4847insAACAC (p.Phe1616Ter)
c.4792_4793insAACAC (p.Phe1598Ter)
c.4684_4685insAACAC (p.Phe1562Ter)
c.4747_4748insAACAC (p.Phe1583Ter)
c.4717_4718insAACAC (p.Phe1573Ter)
c.4789_4790insAACAC (p.Phe1597Ter)
 gnomAD v3 gnomAD v4
3g.38551525_38551526insGTGTGCCA1046986963SCN5Ac.4843_4844insGCACAC (p.Phe1615delinsCysThrLeu)
c.4846_4847insGCACAC (p.Phe1616delinsCysThrLeu)
c.4792_4793insGCACAC (p.Phe1598delinsCysThrLeu)
c.4684_4685insGCACAC (p.Phe1562delinsCysThrLeu)
c.4747_4748insGCACAC (p.Phe1583delinsCysThrLeu)
c.4717_4718insGCACAC (p.Phe1573delinsCysThrLeu)
c.4789_4790insGCACAC (p.Phe1597delinsCysThrLeu)
 gnomAD v3 gnomAD v4
3g.38551525_38551526insGTGTGTCCA1046986970SCN5Ac.4843_4844insGACACAC (p.Phe1615Ter)
c.4846_4847insGACACAC (p.Phe1616Ter)
c.4792_4793insGACACAC (p.Phe1598Ter)
c.4684_4685insGACACAC (p.Phe1562Ter)
c.4747_4748insGACACAC (p.Phe1583Ter)
c.4717_4718insGACACAC (p.Phe1573Ter)
c.4789_4790insGACACAC (p.Phe1597Ter)
 gnomAD v3 gnomAD v4
3g.38551526A>CCA352143099SCN5Ac.4843T>G (p.Phe1615Val)
c.4846T>G (p.Phe1616Val)
c.4792T>G (p.Phe1598Val)
c.4684T>G (p.Phe1562Val)
c.4747T>G (p.Phe1583Val)
c.4717T>G (p.Phe1573Val)
c.4789T>G (p.Phe1597Val)
3g.38551526A>GCA352143100SCN5Ac.4843T>C (p.Phe1615Leu)
c.4846T>C (p.Phe1616Leu)
c.4792T>C (p.Phe1598Leu)
c.4684T>C (p.Phe1562Leu)
c.4747T>C (p.Phe1583Leu)
c.4717T>C (p.Phe1573Leu)
c.4789T>C (p.Phe1597Leu)
3g.38551526A>TCA352143101SCN5Ac.4843T>A (p.Phe1615Ile)
c.4846T>A (p.Phe1616Ile)
c.4792T>A (p.Phe1598Ile)
c.4684T>A (p.Phe1562Ile)
c.4747T>A (p.Phe1583Ile)
c.4717T>A (p.Phe1573Ile)
c.4789T>A (p.Phe1597Ile)
 gnomAD v3 gnomAD v4
3g.38551527G>ACA433134338SCN5Ac.4842C>T (p.Tyr1614=)
c.4845C>T (p.Tyr1615=)
c.4791C>T (p.Tyr1597=)
c.4683C>T (p.Tyr1561=)
c.4746C>T (p.Tyr1582=)
c.4716C>T (p.Tyr1572=)
c.4788C>T (p.Tyr1596=)
3g.38551527G>CCA352143102SCN5Ac.4842C>G (p.Tyr1614Ter)
c.4845C>G (p.Tyr1615Ter)
c.4791C>G (p.Tyr1597Ter)
c.4683C>G (p.Tyr1561Ter)
c.4746C>G (p.Tyr1582Ter)
c.4716C>G (p.Tyr1572Ter)
c.4788C>G (p.Tyr1596Ter)
 dbSNP
3g.38551527G>TCA352143103SCN5Ac.4842C>A (p.Tyr1614Ter)
c.4845C>A (p.Tyr1615Ter)
c.4791C>A (p.Tyr1597Ter)
c.4683C>A (p.Tyr1561Ter)
c.4746C>A (p.Tyr1582Ter)
c.4716C>A (p.Tyr1572Ter)
c.4788C>A (p.Tyr1596Ter)
3g.38551528T>ACA352143104SCN5Ac.4841A>T (p.Tyr1614Phe)
c.4844A>T (p.Tyr1615Phe)
c.4790A>T (p.Tyr1597Phe)
c.4682A>T (p.Tyr1561Phe)
c.4745A>T (p.Tyr1582Phe)
c.4715A>T (p.Tyr1572Phe)
c.4787A>T (p.Tyr1596Phe)
3g.38551528T>CCA352143106SCN5Ac.4841A>G (p.Tyr1614Cys)
c.4844A>G (p.Tyr1615Cys)
c.4790A>G (p.Tyr1597Cys)
c.4682A>G (p.Tyr1561Cys)
c.4745A>G (p.Tyr1582Cys)
c.4715A>G (p.Tyr1572Cys)
c.4787A>G (p.Tyr1596Cys)
3g.38551528T>GCA352143105SCN5Ac.4841A>C (p.Tyr1614Ser)
c.4844A>C (p.Tyr1615Ser)
c.4790A>C (p.Tyr1597Ser)
c.4682A>C (p.Tyr1561Ser)
c.4745A>C (p.Tyr1582Ser)
c.4715A>C (p.Tyr1572Ser)
c.4787A>C (p.Tyr1596Ser)
3g.38551528T=CA1358558337SCN5Ac.4841A= (p.Tyr1614=)
c.4844A= (p.Tyr1615=)
c.4790A= (p.Tyr1597=)
c.4682A= (p.Tyr1561=)
c.4745A= (p.Tyr1582=)
c.4715A= (p.Tyr1572=)
c.4787A= (p.Tyr1596=)
3g.38551529_38551532delCA1046986976SCN5Ac.4838_4841del (p.Lys1613ThrfsTer16)
c.4841_4844del (p.Lys1614ThrfsTer16)
c.4787_4790del (p.Lys1596ThrfsTer16)
c.4679_4682del (p.Lys1560ThrfsTer16)
c.4742_4745del (p.Lys1581ThrfsTer16)
c.4712_4715del (p.Lys1571ThrfsTer16)
c.4784_4787del (p.Lys1595ThrfsTer16)
 gnomAD v3 gnomAD v4
3g.38551529_38551534delCA1046986978SCN5Ac.4836_4841del (p.Gln1612_Tyr1614delinsHis)
c.4839_4844del (p.Gln1613_Tyr1615delinsHis)
c.4785_4790del (p.Gln1595_Tyr1597delinsHis)
c.4677_4682del (p.Gln1559_Tyr1561delinsHis)
c.4740_4745del (p.Gln1580_Tyr1582delinsHis)
c.4710_4715del (p.Gln1570_Tyr1572delinsHis)
c.4782_4787del (p.Gln1594_Tyr1596delinsHis)
 gnomAD v3 gnomAD v4
3g.38551529_38551541delCA1046986981SCN5Ac.4829_4841del (p.Ile1610ThrfsTer16)
c.4832_4844del (p.Ile1611ThrfsTer16)
c.4778_4790del (p.Ile1593ThrfsTer16)
c.4670_4682del (p.Ile1557ThrfsTer16)
c.4733_4745del (p.Ile1578ThrfsTer16)
c.4703_4715del (p.Ile1568ThrfsTer16)
c.4775_4787del (p.Ile1592ThrfsTer16)
 gnomAD v3 gnomAD v4
3g.38551528_38551529insGTCCA1046986990SCN5Ac.4840_4841insGAC (p.Tyr1614Ter)
c.4843_4844insGAC (p.Tyr1615Ter)
c.4789_4790insGAC (p.Tyr1597Ter)
c.4681_4682insGAC (p.Tyr1561Ter)
c.4744_4745insGAC (p.Tyr1582Ter)
c.4714_4715insGAC (p.Tyr1572Ter)
c.4786_4787insGAC (p.Tyr1596Ter)
 gnomAD v3 gnomAD v4
3g.38551528_38551529insGTAGCA1046986986SCN5Ac.4840_4841insCTAC (p.Tyr1614SerfsTer?)
c.4843_4844insCTAC (p.Tyr1615SerfsTer?)
c.4789_4790insCTAC (p.Tyr1597SerfsTer?)
c.4681_4682insCTAC (p.Tyr1561SerfsTer?)
c.4744_4745insCTAC (p.Tyr1582SerfsTer?)
c.4714_4715insCTAC (p.Tyr1572SerfsTer?)
c.4786_4787insCTAC (p.Tyr1596SerfsTer?)
 dbSNP gnomAD v3 gnomAD v4
3g.38551528_38551529insGTGACA1046986992SCN5Ac.4840_4841insTCAC (p.Tyr1614PhefsTer?)
c.4843_4844insTCAC (p.Tyr1615PhefsTer?)
c.4789_4790insTCAC (p.Tyr1597PhefsTer?)
c.4681_4682insTCAC (p.Tyr1561PhefsTer?)
c.4744_4745insTCAC (p.Tyr1582PhefsTer?)
c.4714_4715insTCAC (p.Tyr1572PhefsTer?)
c.4786_4787insTCAC (p.Tyr1596PhefsTer?)
 gnomAD v3 gnomAD v4
3g.38551529delCA1046986995SCN5Ac.4840del (p.Tyr1614ThrfsTer16)
c.4843del (p.Tyr1615ThrfsTer16)
c.4789del (p.Tyr1597ThrfsTer16)
c.4681del (p.Tyr1561ThrfsTer16)
c.4744del (p.Tyr1582ThrfsTer16)
c.4714del (p.Tyr1572ThrfsTer16)
c.4786del (p.Tyr1596ThrfsTer16)
 gnomAD v3 gnomAD v4
3g.38551529A>CCA352143107SCN5Ac.4840T>G (p.Tyr1614Asp)
c.4843T>G (p.Tyr1615Asp)
c.4789T>G (p.Tyr1597Asp)
c.4681T>G (p.Tyr1561Asp)
c.4744T>G (p.Tyr1582Asp)
c.4714T>G (p.Tyr1572Asp)
c.4786T>G (p.Tyr1596Asp)
3g.38551529A>GCA352143108SCN5Ac.4840T>C (p.Tyr1614His)
c.4843T>C (p.Tyr1615His)
c.4789T>C (p.Tyr1597His)
c.4681T>C (p.Tyr1561His)
c.4744T>C (p.Tyr1582His)
c.4714T>C (p.Tyr1572His)
c.4786T>C (p.Tyr1596His)
 ClinVar gnomAD v3 gnomAD v4
3g.38551529A>TCA352143109SCN5Ac.4840T>A (p.Tyr1614Asn)
c.4843T>A (p.Tyr1615Asn)
c.4789T>A (p.Tyr1597Asn)
c.4681T>A (p.Tyr1561Asn)
c.4744T>A (p.Tyr1582Asn)
c.4714T>A (p.Tyr1572Asn)
c.4786T>A (p.Tyr1596Asn)
3g.38551529_38551530delCA1046986999SCN5Ac.4839_4840del (p.Tyr1614LeufsTer?)
c.4842_4843del (p.Tyr1615LeufsTer?)
c.4788_4789del (p.Tyr1597LeufsTer?)
c.4680_4681del (p.Tyr1561LeufsTer?)
c.4743_4744del (p.Tyr1582LeufsTer?)
c.4713_4714del (p.Tyr1572LeufsTer?)
c.4785_4786del (p.Tyr1596LeufsTer?)
 gnomAD v3 gnomAD v4
3g.38551529_38551535delCA1046987012SCN5Ac.4834_4840del (p.Gln1612ThrfsTer16)
c.4837_4843del (p.Gln1613ThrfsTer16)
c.4783_4789del (p.Gln1595ThrfsTer16)
c.4675_4681del (p.Gln1559ThrfsTer16)
c.4738_4744del (p.Gln1580ThrfsTer16)
c.4708_4714del (p.Gln1570ThrfsTer16)
c.4780_4786del (p.Gln1594ThrfsTer16)
 gnomAD v3 gnomAD v4
3g.38551530C>ACA352143110SCN5Ac.4839G>T (p.Lys1613Asn)
c.4842G>T (p.Lys1614Asn)
c.4788G>T (p.Lys1596Asn)
c.4680G>T (p.Lys1560Asn)
c.4743G>T (p.Lys1581Asn)
c.4713G>T (p.Lys1571Asn)
c.4785G>T (p.Lys1595Asn)
 gnomAD v3 gnomAD v4
3g.38551530C>GCA352143111SCN5Ac.4839G>C (p.Lys1613Asn)
c.4842G>C (p.Lys1614Asn)
c.4788G>C (p.Lys1596Asn)
c.4680G>C (p.Lys1560Asn)
c.4743G>C (p.Lys1581Asn)
c.4713G>C (p.Lys1571Asn)
c.4785G>C (p.Lys1595Asn)
 gnomAD v3 gnomAD v4
3g.38551530C>TCA433134342SCN5Ac.4839G>A (p.Lys1613=)
c.4842G>A (p.Lys1614=)
c.4788G>A (p.Lys1596=)
c.4680G>A (p.Lys1560=)
c.4743G>A (p.Lys1581=)
c.4713G>A (p.Lys1571=)
c.4785G>A (p.Lys1595=)
 gnomAD v4
3g.38551530_38551534delCA1046987026SCN5Ac.4835_4839del (p.Gln1612LeufsTer?)
c.4838_4842del (p.Gln1613LeufsTer?)
c.4784_4788del (p.Gln1595LeufsTer?)
c.4676_4680del (p.Gln1559LeufsTer?)
c.4739_4743del (p.Gln1580LeufsTer?)
c.4709_4713del (p.Gln1570LeufsTer?)
c.4781_4785del (p.Gln1594LeufsTer?)
 gnomAD v3 gnomAD v4
3g.38551532_38551534delCA1046987024SCN5Ac.4837_4839del (p.Lys1613del)
c.4840_4842del (p.Lys1614del)
c.4786_4788del (p.Lys1596del)
c.4678_4680del (p.Lys1560del)
c.4741_4743del (p.Lys1581del)
c.4711_4713del (p.Lys1571del)
c.4783_4785del (p.Lys1595del)
 gnomAD v3 gnomAD v4
3g.38551530_38551536delCA2539576328SCN5Ac.4833_4839del (p.Gln1612ThrfsTer16)
c.4836_4842del (p.Gln1613ThrfsTer16)
c.4782_4788del (p.Gln1595ThrfsTer16)
c.4674_4680del (p.Gln1559ThrfsTer16)
c.4737_4743del (p.Gln1580ThrfsTer16)
c.4707_4713del (p.Gln1570ThrfsTer16)
c.4779_4785del (p.Gln1594ThrfsTer16)
3g.38551530_38551536delinsCTTCTGGCA1358558342SCN5Ac.4833_4839delinsCCAGAAG (p.Ile1611=)
c.4836_4842delinsCCAGAAG (p.Ile1612=)
c.4782_4788delinsCCAGAAG (p.Ile1594=)
c.4674_4680delinsCCAGAAG (p.Ile1558=)
c.4737_4743delinsCCAGAAG (p.Ile1579=)
c.4707_4713delinsCCAGAAG (p.Ile1569=)
c.4779_4785delinsCCAGAAG (p.Ile1593=)
3g.38551530_38551531insGCA1046987030SCN5Ac.4838_4839insC (p.Lys1613AsnfsTer?)
c.4841_4842insC (p.Lys1614AsnfsTer?)
c.4787_4788insC (p.Lys1596AsnfsTer?)
c.4679_4680insC (p.Lys1560AsnfsTer?)
c.4742_4743insC (p.Lys1581AsnfsTer?)
c.4712_4713insC (p.Lys1571AsnfsTer?)
c.4784_4785insC (p.Lys1595AsnfsTer?)
 gnomAD v3 gnomAD v4
3g.38551531T>ACA352143112SCN5Ac.4838A>T (p.Lys1613Met)
c.4841A>T (p.Lys1614Met)
c.4787A>T (p.Lys1596Met)
c.4679A>T (p.Lys1560Met)
c.4742A>T (p.Lys1581Met)
c.4712A>T (p.Lys1571Met)
c.4784A>T (p.Lys1595Met)
 gnomAD v3 gnomAD v4
3g.38551531T>CCA352143113SCN5Ac.4838A>G (p.Lys1613Arg)
c.4841A>G (p.Lys1614Arg)
c.4787A>G (p.Lys1596Arg)
c.4679A>G (p.Lys1560Arg)
c.4742A>G (p.Lys1581Arg)
c.4712A>G (p.Lys1571Arg)
c.4784A>G (p.Lys1595Arg)
 gnomAD v3 gnomAD v4
3g.38551531T>GCA352143114SCN5Ac.4838A>C (p.Lys1613Thr)
c.4841A>C (p.Lys1614Thr)
c.4787A>C (p.Lys1596Thr)
c.4679A>C (p.Lys1560Thr)
c.4742A>C (p.Lys1581Thr)
c.4712A>C (p.Lys1571Thr)
c.4784A>C (p.Lys1595Thr)
 ClinVar gnomAD v3 gnomAD v4
3g.38551531_38551532delCA1046987032SCN5Ac.4837_4838del (p.Lys1613ValfsTer?)
c.4840_4841del (p.Lys1614ValfsTer?)
c.4786_4787del (p.Lys1596ValfsTer?)
c.4678_4679del (p.Lys1560ValfsTer?)
c.4741_4742del (p.Lys1581ValfsTer?)
c.4711_4712del (p.Lys1571ValfsTer?)
c.4783_4784del (p.Lys1595ValfsTer?)
 gnomAD v3 gnomAD v4
3g.38551531_38551534delCA1046987038SCN5Ac.4835_4838del (p.Gln1612ArgfsTer17)
c.4838_4841del (p.Gln1613ArgfsTer17)
c.4784_4787del (p.Gln1595ArgfsTer17)
c.4676_4679del (p.Gln1559ArgfsTer17)
c.4739_4742del (p.Gln1580ArgfsTer17)
c.4709_4712del (p.Gln1570ArgfsTer17)
c.4781_4784del (p.Gln1594ArgfsTer17)
 gnomAD v3 gnomAD v4
3g.38551531_38551535delCA1046987039SCN5Ac.4834_4838del (p.Gln1612ValfsTer?)
c.4837_4841del (p.Gln1613ValfsTer?)
c.4783_4787del (p.Gln1595ValfsTer?)
c.4675_4679del (p.Gln1559ValfsTer?)
c.4738_4742del (p.Gln1580ValfsTer?)
c.4708_4712del (p.Gln1570ValfsTer?)
c.4780_4784del (p.Gln1594ValfsTer?)
 gnomAD v3 gnomAD v4
3g.38551531_38551536delCA1046987041SCN5Ac.4833_4838del (p.Ile1611_Lys1613delinsMet)
c.4836_4841del (p.Ile1612_Lys1614delinsMet)
c.4782_4787del (p.Ile1594_Lys1596delinsMet)
c.4674_4679del (p.Ile1558_Lys1560delinsMet)
c.4737_4742del (p.Ile1579_Lys1581delinsMet)
c.4707_4712del (p.Ile1569_Lys1571delinsMet)
c.4779_4784del (p.Ile1593_Lys1595delinsMet)
 dbSNP gnomAD v3 gnomAD v4
3g.38551531_38551532insACA1046987049SCN5Ac.4837_4838insT (p.Lys1613IlefsTer?)
c.4840_4841insT (p.Lys1614IlefsTer?)
c.4786_4787insT (p.Lys1596IlefsTer?)
c.4678_4679insT (p.Lys1560IlefsTer?)
c.4741_4742insT (p.Lys1581IlefsTer?)
c.4711_4712insT (p.Lys1571IlefsTer?)
c.4783_4784insT (p.Lys1595IlefsTer?)
 gnomAD v3 gnomAD v4
3g.38551532T>ACA352143115SCN5Ac.4837A>T (p.Lys1613Ter)
c.4840A>T (p.Lys1614Ter)
c.4786A>T (p.Lys1596Ter)
c.4678A>T (p.Lys1560Ter)
c.4741A>T (p.Lys1581Ter)
c.4711A>T (p.Lys1571Ter)
c.4783A>T (p.Lys1595Ter)
 ClinVar dbSNP gnomAD v3 gnomAD v4
3g.38551532T>CCA352143116SCN5Ac.4837A>G (p.Lys1613Glu)
c.4840A>G (p.Lys1614Glu)
c.4786A>G (p.Lys1596Glu)
c.4678A>G (p.Lys1560Glu)
c.4741A>G (p.Lys1581Glu)
c.4711A>G (p.Lys1571Glu)
c.4783A>G (p.Lys1595Glu)
 gnomAD v3 gnomAD v4
3g.38551532T>GCA352143117SCN5Ac.4837A>C (p.Lys1613Gln)
c.4840A>C (p.Lys1614Gln)
c.4786A>C (p.Lys1596Gln)
c.4678A>C (p.Lys1560Gln)
c.4741A>C (p.Lys1581Gln)
c.4711A>C (p.Lys1571Gln)
c.4783A>C (p.Lys1595Gln)
 gnomAD v3 gnomAD v4
3g.38551532T=CA1358558344SCN5Ac.4837A= (p.Lys1613=)
c.4840A= (p.Lys1614=)
c.4786A= (p.Lys1596=)
c.4678A= (p.Lys1560=)
c.4741A= (p.Lys1581=)
c.4711A= (p.Lys1571=)
c.4783A= (p.Lys1595=)
3g.38551533delCA2580069749SCN5Ac.4836del (p.Lys1613SerfsTer17)
c.4839del (p.Lys1614SerfsTer17)
c.4785del (p.Lys1596SerfsTer17)
c.4677del (p.Lys1560SerfsTer17)
c.4740del (p.Lys1581SerfsTer17)
c.4710del (p.Lys1571SerfsTer17)
c.4782del (p.Lys1595SerfsTer17)
 ClinVar
3g.38551533C>ACA352143118SCN5Ac.4836G>T (p.Gln1612His)
c.4839G>T (p.Gln1613His)
c.4785G>T (p.Gln1595His)
c.4677G>T (p.Gln1559His)
c.4740G>T (p.Gln1580His)
c.4710G>T (p.Gln1570His)
c.4782G>T (p.Gln1594His)
3g.38551533C=CA1358558346SCN5Ac.4836G= (p.Gln1612=)
c.4839G= (p.Gln1613=)
c.4785G= (p.Gln1595=)
c.4677G= (p.Gln1559=)
c.4740G= (p.Gln1580=)
c.4710G= (p.Gln1570=)
c.4782G= (p.Gln1594=)
3g.38551533C>GCA352143119SCN5Ac.4836G>C (p.Gln1612His)
c.4839G>C (p.Gln1613His)
c.4785G>C (p.Gln1595His)
c.4677G>C (p.Gln1559His)
c.4740G>C (p.Gln1580His)
c.4710G>C (p.Gln1570His)
c.4782G>C (p.Gln1594His)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.38551533C>TCA433134346SCN5Ac.4836G>A (p.Gln1612=)
c.4839G>A (p.Gln1613=)
c.4785G>A (p.Gln1595=)
c.4677G>A (p.Gln1559=)
c.4740G>A (p.Gln1580=)
c.4710G>A (p.Gln1570=)
c.4782G>A (p.Gln1594=)
3g.38551533_38551534insGCA1046987068SCN5Ac.4835_4836insC (p.Gln1612HisfsTer?)
c.4838_4839insC (p.Gln1613HisfsTer?)
c.4784_4785insC (p.Gln1595HisfsTer?)
c.4676_4677insC (p.Gln1559HisfsTer?)
c.4739_4740insC (p.Gln1580HisfsTer?)
c.4709_4710insC (p.Gln1570HisfsTer?)
c.4781_4782insC (p.Gln1594HisfsTer?)
 gnomAD v3 gnomAD v4
3g.38551533_38551534insGCGCA1046987060SCN5Ac.4835_4836insCGC (p.Gln1612delinsHisAla)
c.4838_4839insCGC (p.Gln1613delinsHisAla)
c.4784_4785insCGC (p.Gln1595delinsHisAla)
c.4676_4677insCGC (p.Gln1559delinsHisAla)
c.4739_4740insCGC (p.Gln1580delinsHisAla)
c.4709_4710insCGC (p.Gln1570delinsHisAla)
c.4781_4782insCGC (p.Gln1594delinsHisAla)
 gnomAD v3 gnomAD v4
3g.38551534delCA1046987061SCN5Ac.4835del (p.Gln1612ArgfsTer18)
c.4838del (p.Gln1613ArgfsTer18)
c.4784del (p.Gln1595ArgfsTer18)
c.4676del (p.Gln1559ArgfsTer18)
c.4739del (p.Gln1580ArgfsTer18)
c.4709del (p.Gln1570ArgfsTer18)
c.4781del (p.Gln1594ArgfsTer18)
 gnomAD v3 gnomAD v4
3g.38551534T>ACA018630SCN5Ac.4835A>T (p.Gln1612Leu)
c.4838A>T (p.Gln1613Leu)
c.4784A>T (p.Gln1595Leu)
c.4676A>T (p.Gln1559Leu)
c.4739A>T (p.Gln1580Leu)
c.4709A>T (p.Gln1570Leu)
c.4781A>T (p.Gln1594Leu)
 ClinVar dbSNP gnomAD v3 gnomAD v4
3g.38551534T>CCA352143121SCN5Ac.4835A>G (p.Gln1612Arg)
c.4838A>G (p.Gln1613Arg)
c.4784A>G (p.Gln1595Arg)
c.4676A>G (p.Gln1559Arg)
c.4739A>G (p.Gln1580Arg)
c.4709A>G (p.Gln1570Arg)
c.4781A>G (p.Gln1594Arg)
 ClinVar
3g.38551534T>GCA352143120SCN5Ac.4835A>C (p.Gln1612Pro)
c.4838A>C (p.Gln1613Pro)
c.4784A>C (p.Gln1595Pro)
c.4676A>C (p.Gln1559Pro)
c.4739A>C (p.Gln1580Pro)
c.4709A>C (p.Gln1570Pro)
c.4781A>C (p.Gln1594Pro)
3g.38551534T=CA1358558352SCN5Ac.4835A= (p.Gln1612=)
c.4838A= (p.Gln1613=)
c.4784A= (p.Gln1595=)
c.4676A= (p.Gln1559=)
c.4739A= (p.Gln1580=)
c.4709A= (p.Gln1570=)
c.4781A= (p.Gln1594=)
3g.38551534_38551536delCA1046987063SCN5Ac.4833_4835del (p.Ile1611_Gln1612delinsMet)
c.4836_4838del (p.Ile1612_Gln1613delinsMet)
c.4782_4784del (p.Ile1594_Gln1595delinsMet)
c.4674_4676del (p.Ile1558_Gln1559delinsMet)
c.4737_4739del (p.Ile1579_Gln1580delinsMet)
c.4707_4709del (p.Ile1569_Gln1570delinsMet)
c.4779_4781del (p.Ile1593_Gln1594delinsMet)
 gnomAD v3 gnomAD v4
3g.38551535G>ACA352143122SCN5Ac.4834C>T (p.Gln1612Ter)
c.4837C>T (p.Gln1613Ter)
c.4783C>T (p.Gln1595Ter)
c.4675C>T (p.Gln1559Ter)
c.4738C>T (p.Gln1580Ter)
c.4708C>T (p.Gln1570Ter)
c.4780C>T (p.Gln1594Ter)
 gnomAD v3 gnomAD v4
3g.38551535G>CCA352143123SCN5Ac.4834C>G (p.Gln1612Glu)
c.4837C>G (p.Gln1613Glu)
c.4783C>G (p.Gln1595Glu)
c.4675C>G (p.Gln1559Glu)
c.4738C>G (p.Gln1580Glu)
c.4708C>G (p.Gln1570Glu)
c.4780C>G (p.Gln1594Glu)
 gnomAD v3 gnomAD v4
3g.38551535G>TCA352143124SCN5Ac.4834C>A (p.Gln1612Lys)
c.4837C>A (p.Gln1613Lys)
c.4783C>A (p.Gln1595Lys)
c.4675C>A (p.Gln1559Lys)
c.4738C>A (p.Gln1580Lys)
c.4708C>A (p.Gln1570Lys)
c.4780C>A (p.Gln1594Lys)
3g.38551535_38551536delCA1046987076SCN5Ac.4833_4834del (p.Gln1612GlufsTer?)
c.4836_4837del (p.Gln1613GlufsTer?)
c.4782_4783del (p.Gln1595GlufsTer?)
c.4674_4675del (p.Gln1559GlufsTer?)
c.4737_4738del (p.Gln1580GlufsTer?)
c.4707_4708del (p.Gln1570GlufsTer?)
c.4779_4780del (p.Gln1594GlufsTer?)
 gnomAD v3 gnomAD v4
3g.38551535_38551536insTCA1046987092SCN5Ac.4833_4834insA (p.Gln1612ThrfsTer?)
c.4836_4837insA (p.Gln1613ThrfsTer?)
c.4782_4783insA (p.Gln1595ThrfsTer?)
c.4674_4675insA (p.Gln1559ThrfsTer?)
c.4737_4738insA (p.Gln1580ThrfsTer?)
c.4707_4708insA (p.Gln1570ThrfsTer?)
c.4779_4780insA (p.Gln1594ThrfsTer?)
 gnomAD v3 gnomAD v4
3g.38551535_38551536insCCACA1046987104SCN5Ac.4833_4834insTGG (p.Ile1611_Gln1612insTrp)
c.4836_4837insTGG (p.Ile1612_Gln1613insTrp)
c.4782_4783insTGG (p.Ile1594_Gln1595insTrp)
c.4674_4675insTGG (p.Ile1558_Gln1559insTrp)
c.4737_4738insTGG (p.Ile1579_Gln1580insTrp)
c.4707_4708insTGG (p.Ile1569_Gln1570insTrp)
c.4779_4780insTGG (p.Ile1593_Gln1594insTrp)
 gnomAD v3 gnomAD v4
3g.38551535_38551536insTTAACA1046987088SCN5Ac.4833_4834insTTAA (p.Gln1612LeufsTer?)
c.4836_4837insTTAA (p.Gln1613LeufsTer?)
c.4782_4783insTTAA (p.Gln1595LeufsTer?)
c.4674_4675insTTAA (p.Gln1559LeufsTer?)
c.4737_4738insTTAA (p.Gln1580LeufsTer?)
c.4707_4708insTTAA (p.Gln1570LeufsTer?)
c.4779_4780insTTAA (p.Gln1594LeufsTer?)
 gnomAD v3 gnomAD v4
3g.38551536G>ACA433134349SCN5Ac.4833C>T (p.Ile1611=)
c.4836C>T (p.Ile1612=)
c.4782C>T (p.Ile1594=)
c.4674C>T (p.Ile1558=)
c.4737C>T (p.Ile1579=)
c.4707C>T (p.Ile1569=)
c.4779C>T (p.Ile1593=)
3g.38551536G>CCA352143125SCN5Ac.4833C>G (p.Ile1611Met)
c.4836C>G (p.Ile1612Met)
c.4782C>G (p.Ile1594Met)
c.4674C>G (p.Ile1558Met)
c.4737C>G (p.Ile1579Met)
c.4707C>G (p.Ile1569Met)
c.4779C>G (p.Ile1593Met)
 gnomAD v3 gnomAD v4
3g.38551536G>TCA433134350SCN5Ac.4833C>A (p.Ile1611=)
c.4836C>A (p.Ile1612=)
c.4782C>A (p.Ile1594=)
c.4674C>A (p.Ile1558=)
c.4737C>A (p.Ile1579=)
c.4707C>A (p.Ile1569=)
c.4779C>A (p.Ile1593=)
 gnomAD v3 gnomAD v4
3g.38551536_38551537delCA1046987099SCN5Ac.4832_4833del (p.Ile1611ThrfsTer?)
c.4835_4836del (p.Ile1612ThrfsTer?)
c.4781_4782del (p.Ile1594ThrfsTer?)
c.4673_4674del (p.Ile1558ThrfsTer?)
c.4736_4737del (p.Ile1579ThrfsTer?)
c.4706_4707del (p.Ile1569ThrfsTer?)
c.4778_4779del (p.Ile1593ThrfsTer?)
 gnomAD v3 gnomAD v4
3g.38551536_38551540delCA1046987085SCN5Ac.4829_4833del (p.Ile1610ThrfsTer?)
c.4832_4836del (p.Ile1611ThrfsTer?)
c.4778_4782del (p.Ile1593ThrfsTer?)
c.4670_4674del (p.Ile1557ThrfsTer?)
c.4733_4737del (p.Ile1578ThrfsTer?)
c.4703_4707del (p.Ile1568ThrfsTer?)
c.4775_4779del (p.Ile1592ThrfsTer?)
 gnomAD v3 gnomAD v4
3g.38551536_38551537insCTCA1046987122SCN5Ac.4832_4833insAG (p.Gln1612AlafsTer19)
c.4835_4836insAG (p.Gln1613AlafsTer19)
c.4781_4782insAG (p.Gln1595AlafsTer19)
c.4673_4674insAG (p.Gln1559AlafsTer19)
c.4736_4737insAG (p.Gln1580AlafsTer19)
c.4706_4707insAG (p.Gln1570AlafsTer19)
c.4778_4779insAG (p.Gln1594AlafsTer19)
 gnomAD v3 gnomAD v4
3g.38551537A=CA1358558357SCN5Ac.4832T= (p.Ile1611=)
c.4835T= (p.Ile1612=)
c.4781T= (p.Ile1594=)
c.4673T= (p.Ile1558=)
c.4736T= (p.Ile1579=)
c.4706T= (p.Ile1569=)
c.4778T= (p.Ile1593=)
3g.38551537A>CCA352143126SCN5Ac.4832T>G (p.Ile1611Ser)
c.4835T>G (p.Ile1612Ser)
c.4781T>G (p.Ile1594Ser)
c.4673T>G (p.Ile1558Ser)
c.4736T>G (p.Ile1579Ser)
c.4706T>G (p.Ile1569Ser)
c.4778T>G (p.Ile1593Ser)
 gnomAD v3 gnomAD v4
3g.38551537A>GCA352143127SCN5Ac.4832T>C (p.Ile1611Thr)
c.4835T>C (p.Ile1612Thr)
c.4781T>C (p.Ile1594Thr)
c.4673T>C (p.Ile1558Thr)
c.4736T>C (p.Ile1579Thr)
c.4706T>C (p.Ile1569Thr)
c.4778T>C (p.Ile1593Thr)
 ClinVar dbSNP gnomAD v3 gnomAD v4
3g.38551537A>TCA352143128SCN5Ac.4832T>A (p.Ile1611Asn)
c.4835T>A (p.Ile1612Asn)
c.4781T>A (p.Ile1594Asn)
c.4673T>A (p.Ile1558Asn)
c.4736T>A (p.Ile1579Asn)
c.4706T>A (p.Ile1569Asn)
c.4778T>A (p.Ile1593Asn)
 ClinVar dbSNP gnomAD v3 gnomAD v4
3g.38551537_38551540delCA1046987119SCN5Ac.4829_4832del (p.Ile1610ThrfsTer19)
c.4832_4835del (p.Ile1611ThrfsTer19)
c.4778_4781del (p.Ile1593ThrfsTer19)
c.4670_4673del (p.Ile1557ThrfsTer19)
c.4733_4736del (p.Ile1578ThrfsTer19)
c.4703_4706del (p.Ile1568ThrfsTer19)
c.4775_4778del (p.Ile1592ThrfsTer19)
 gnomAD v3 gnomAD v4
3g.38551537_38551538insAGCCCA2515839288SCN5Ac.4831_4832insGGCT (p.Ile1611ArgfsTer?)
c.4834_4835insGGCT (p.Ile1612ArgfsTer?)
c.4780_4781insGGCT (p.Ile1594ArgfsTer?)
c.4672_4673insGGCT (p.Ile1558ArgfsTer?)
c.4735_4736insGGCT (p.Ile1579ArgfsTer?)
c.4705_4706insGGCT (p.Ile1569ArgfsTer?)
c.4777_4778insGGCT (p.Ile1593ArgfsTer?)
3g.38551538delCA1046987126SCN5Ac.4831del (p.Ile1611SerfsTer19)
c.4834del (p.Ile1612SerfsTer19)
c.4780del (p.Ile1594SerfsTer19)
c.4672del (p.Ile1558SerfsTer19)
c.4735del (p.Ile1579SerfsTer19)
c.4705del (p.Ile1569SerfsTer19)
c.4777del (p.Ile1593SerfsTer19)
 gnomAD v3 gnomAD v4
3g.38551538T>ACA352143129SCN5Ac.4831A>T (p.Ile1611Phe)
c.4834A>T (p.Ile1612Phe)
c.4780A>T (p.Ile1594Phe)
c.4672A>T (p.Ile1558Phe)
c.4735A>T (p.Ile1579Phe)
c.4705A>T (p.Ile1569Phe)
c.4777A>T (p.Ile1593Phe)
 gnomAD v3 gnomAD v4
3g.38551538T>CCA352143130SCN5Ac.4831A>G (p.Ile1611Val)
c.4834A>G (p.Ile1612Val)
c.4780A>G (p.Ile1594Val)
c.4672A>G (p.Ile1558Val)
c.4735A>G (p.Ile1579Val)
c.4705A>G (p.Ile1569Val)
c.4777A>G (p.Ile1593Val)
 ClinVar
3g.38551538T>GCA352143131SCN5Ac.4831A>C (p.Ile1611Leu)
c.4834A>C (p.Ile1612Leu)
c.4780A>C (p.Ile1594Leu)
c.4672A>C (p.Ile1558Leu)
c.4735A>C (p.Ile1579Leu)
c.4705A>C (p.Ile1569Leu)
c.4777A>C (p.Ile1593Leu)
 gnomAD v3 gnomAD v4
3g.38551538_38551539insAGCA1046987129SCN5Ac.4830_4831insCT (p.Ile1611LeufsTer20)
c.4833_4834insCT (p.Ile1612LeufsTer20)
c.4779_4780insCT (p.Ile1594LeufsTer20)
c.4671_4672insCT (p.Ile1558LeufsTer20)
c.4734_4735insCT (p.Ile1579LeufsTer20)
c.4704_4705insCT (p.Ile1569LeufsTer20)
c.4776_4777insCT (p.Ile1593LeufsTer20)
 gnomAD v3 gnomAD v4
3g.38551538_38551539insCGCCA2523370385SCN5Ac.4830_4831insGCG (p.Ile1610_Ile1611insAla)
c.4833_4834insGCG (p.Ile1611_Ile1612insAla)
c.4779_4780insGCG (p.Ile1593_Ile1594insAla)
c.4671_4672insGCG (p.Ile1557_Ile1558insAla)
c.4734_4735insGCG (p.Ile1578_Ile1579insAla)
c.4704_4705insGCG (p.Ile1568_Ile1569insAla)
c.4776_4777insGCG (p.Ile1592_Ile1593insAla)
3g.38551539G>ACA433134353SCN5Ac.4830C>T (p.Ile1610=)
c.4833C>T (p.Ile1611=)
c.4779C>T (p.Ile1593=)
c.4671C>T (p.Ile1557=)
c.4734C>T (p.Ile1578=)
c.4704C>T (p.Ile1568=)
c.4776C>T (p.Ile1592=)
 gnomAD v3 gnomAD v4
3g.38551539G>CCA352143132SCN5Ac.4830C>G (p.Ile1610Met)
c.4833C>G (p.Ile1611Met)
c.4779C>G (p.Ile1593Met)
c.4671C>G (p.Ile1557Met)
c.4734C>G (p.Ile1578Met)
c.4704C>G (p.Ile1568Met)
c.4776C>G (p.Ile1592Met)
3g.38551539G>TCA433134354SCN5Ac.4830C>A (p.Ile1610=)
c.4833C>A (p.Ile1611=)
c.4779C>A (p.Ile1593=)
c.4671C>A (p.Ile1557=)
c.4734C>A (p.Ile1578=)
c.4704C>A (p.Ile1568=)
c.4776C>A (p.Ile1592=)
 gnomAD v3 gnomAD v4
3g.38551540delCA1046987142SCN5Ac.4829del (p.Ile1610ThrfsTer20)
c.4832del (p.Ile1611ThrfsTer20)
c.4778del (p.Ile1593ThrfsTer20)
c.4670del (p.Ile1557ThrfsTer20)
c.4733del (p.Ile1578ThrfsTer20)
c.4703del (p.Ile1568ThrfsTer20)
c.4775del (p.Ile1592ThrfsTer20)
 gnomAD v3 gnomAD v4
3g.38551540A>CCA352143134SCN5Ac.4829T>G (p.Ile1610Ser)
c.4832T>G (p.Ile1611Ser)
c.4778T>G (p.Ile1593Ser)
c.4670T>G (p.Ile1557Ser)
c.4733T>G (p.Ile1578Ser)
c.4703T>G (p.Ile1568Ser)
c.4775T>G (p.Ile1592Ser)
3g.38551540A>GCA352143135SCN5Ac.4829T>C (p.Ile1610Thr)
c.4832T>C (p.Ile1611Thr)
c.4778T>C (p.Ile1593Thr)
c.4670T>C (p.Ile1557Thr)
c.4733T>C (p.Ile1578Thr)
c.4703T>C (p.Ile1568Thr)
c.4775T>C (p.Ile1592Thr)
 ClinVar gnomAD v3 gnomAD v4
3g.38551540A>TCA352143133SCN5Ac.4829T>A (p.Ile1610Asn)
c.4832T>A (p.Ile1611Asn)
c.4778T>A (p.Ile1593Asn)
c.4670T>A (p.Ile1557Asn)
c.4733T>A (p.Ile1578Asn)
c.4703T>A (p.Ile1568Asn)
c.4775T>A (p.Ile1592Asn)
3g.38551540_38551541delCA1046987141SCN5Ac.4828_4829del (p.Ile1610HisfsTer?)
c.4831_4832del (p.Ile1611HisfsTer?)
c.4777_4778del (p.Ile1593HisfsTer?)
c.4669_4670del (p.Ile1557HisfsTer?)
c.4732_4733del (p.Ile1578HisfsTer?)
c.4702_4703del (p.Ile1568HisfsTer?)
c.4774_4775del (p.Ile1592HisfsTer?)
 gnomAD v3 gnomAD v4
3g.38551540_38551541insGCA1046987146SCN5Ac.4828_4829insC (p.Ile1610ThrfsTer?)
c.4831_4832insC (p.Ile1611ThrfsTer?)
c.4777_4778insC (p.Ile1593ThrfsTer?)
c.4669_4670insC (p.Ile1557ThrfsTer?)
c.4732_4733insC (p.Ile1578ThrfsTer?)
c.4702_4703insC (p.Ile1568ThrfsTer?)
c.4774_4775insC (p.Ile1592ThrfsTer?)
 gnomAD v3 gnomAD v4
3g.38551540_38551541insAGCA1046987158SCN5Ac.4828_4829insCT (p.Ile1610ThrfsTer21)
c.4831_4832insCT (p.Ile1611ThrfsTer21)
c.4777_4778insCT (p.Ile1593ThrfsTer21)
c.4669_4670insCT (p.Ile1557ThrfsTer21)
c.4732_4733insCT (p.Ile1578ThrfsTer21)
c.4702_4703insCT (p.Ile1568ThrfsTer21)
c.4774_4775insCT (p.Ile1592ThrfsTer21)
 gnomAD v3 gnomAD v4
3g.38551540_38551541insGCCGCA1046987149SCN5Ac.4828_4829insCGGC (p.Ile1610ThrfsTer?)
c.4831_4832insCGGC (p.Ile1611ThrfsTer?)
c.4777_4778insCGGC (p.Ile1593ThrfsTer?)
c.4669_4670insCGGC (p.Ile1557ThrfsTer?)
c.4732_4733insCGGC (p.Ile1578ThrfsTer?)
c.4702_4703insCGGC (p.Ile1568ThrfsTer?)
c.4774_4775insCGGC (p.Ile1592ThrfsTer?)
 gnomAD v3 gnomAD v4
3g.38551540_38551541insGTAGCA1046987156SCN5Ac.4828_4829insCTAC (p.Ile1610ThrfsTer?)
c.4831_4832insCTAC (p.Ile1611ThrfsTer?)
c.4777_4778insCTAC (p.Ile1593ThrfsTer?)
c.4669_4670insCTAC (p.Ile1557ThrfsTer?)
c.4732_4733insCTAC (p.Ile1578ThrfsTer?)
c.4702_4703insCTAC (p.Ile1568ThrfsTer?)
c.4774_4775insCTAC (p.Ile1592ThrfsTer?)
 gnomAD v3 gnomAD v4
3g.38551541T>ACA352143136SCN5Ac.4828A>T (p.Ile1610Phe)
c.4831A>T (p.Ile1611Phe)
c.4777A>T (p.Ile1593Phe)
c.4669A>T (p.Ile1557Phe)
c.4732A>T (p.Ile1578Phe)
c.4702A>T (p.Ile1568Phe)
c.4774A>T (p.Ile1592Phe)
3g.38551541T>CCA352143137SCN5Ac.4828A>G (p.Ile1610Val)
c.4831A>G (p.Ile1611Val)
c.4777A>G (p.Ile1593Val)
c.4669A>G (p.Ile1557Val)
c.4732A>G (p.Ile1578Val)
c.4702A>G (p.Ile1568Val)
c.4774A>G (p.Ile1592Val)
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.38551541T>GCA352143138SCN5Ac.4828A>C (p.Ile1610Leu)
c.4831A>C (p.Ile1611Leu)
c.4777A>C (p.Ile1593Leu)
c.4669A>C (p.Ile1557Leu)
c.4732A>C (p.Ile1578Leu)
c.4702A>C (p.Ile1568Leu)
c.4774A>C (p.Ile1592Leu)
3g.38551541T=CA1358558363SCN5Ac.4828A= (p.Ile1610=)
c.4831A= (p.Ile1611=)
c.4777A= (p.Ile1593=)
c.4669A= (p.Ile1557=)
c.4732A= (p.Ile1578=)
c.4702A= (p.Ile1568=)
c.4774A= (p.Ile1592=)
3g.38551542G>ACA433134356SCN5Ac.4827C>T (p.Asp1609=)
c.4830C>T (p.Asp1610=)
c.4776C>T (p.Asp1592=)
c.4668C>T (p.Asp1556=)
c.4731C>T (p.Asp1577=)
c.4701C>T (p.Asp1567=)
c.4773C>T (p.Asp1591=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.38551542G>CCA352143139SCN5Ac.4827C>G (p.Asp1609Glu)
c.4830C>G (p.Asp1610Glu)
c.4776C>G (p.Asp1592Glu)
c.4668C>G (p.Asp1556Glu)
c.4731C>G (p.Asp1577Glu)
c.4701C>G (p.Asp1567Glu)
c.4773C>G (p.Asp1591Glu)
 gnomAD v3 gnomAD v4
3g.38551542G=CA1358558369SCN5Ac.4827C= (p.Asp1609=)
c.4830C= (p.Asp1610=)
c.4776C= (p.Asp1592=)
c.4668C= (p.Asp1556=)
c.4731C= (p.Asp1577=)
c.4701C= (p.Asp1567=)
c.4773C= (p.Asp1591=)
3g.38551542G>TCA352143140SCN5Ac.4827C>A (p.Asp1609Glu)
c.4830C>A (p.Asp1610Glu)
c.4776C>A (p.Asp1592Glu)
c.4668C>A (p.Asp1556Glu)
c.4731C>A (p.Asp1577Glu)
c.4701C>A (p.Asp1567Glu)
c.4773C>A (p.Asp1591Glu)
3g.38551543T>ACA352143141SCN5Ac.4826A>T (p.Asp1609Val)
c.4829A>T (p.Asp1610Val)
c.4775A>T (p.Asp1592Val)
c.4667A>T (p.Asp1556Val)
c.4730A>T (p.Asp1577Val)
c.4700A>T (p.Asp1567Val)
c.4772A>T (p.Asp1591Val)
3g.38551543T>CCA063806SCN5Ac.4826A>G (p.Asp1609Gly)
c.4829A>G (p.Asp1610Gly)
c.4775A>G (p.Asp1592Gly)
c.4667A>G (p.Asp1556Gly)
c.4730A>G (p.Asp1577Gly)
c.4700A>G (p.Asp1567Gly)
c.4772A>G (p.Asp1591Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.38551543T>GCA352143142SCN5Ac.4826A>C (p.Asp1609Ala)
c.4829A>C (p.Asp1610Ala)
c.4775A>C (p.Asp1592Ala)
c.4667A>C (p.Asp1556Ala)
c.4730A>C (p.Asp1577Ala)
c.4700A>C (p.Asp1567Ala)
c.4772A>C (p.Asp1591Ala)
3g.38551543T=CA1358558372SCN5Ac.4826A= (p.Asp1609=)
c.4829A= (p.Asp1610=)
c.4775A= (p.Asp1592=)
c.4667A= (p.Asp1556=)
c.4730A= (p.Asp1577=)
c.4700A= (p.Asp1567=)
c.4772A= (p.Asp1591=)
3g.38551543_38551544insTAATCA1046987164SCN5Ac.4826_4827insTTAA (p.Ile1610Ter)
c.4829_4830insTTAA (p.Ile1611Ter)
c.4775_4776insTTAA (p.Ile1593Ter)
c.4667_4668insTTAA (p.Ile1557Ter)
c.4730_4731insTTAA (p.Ile1578Ter)
c.4700_4701insTTAA (p.Ile1568Ter)
c.4772_4773insTTAA (p.Ile1592Ter)
 gnomAD v3 gnomAD v4
3g.38551544C>ACA352143143SCN5Ac.4825G>T (p.Asp1609Tyr)
c.4828G>T (p.Asp1610Tyr)
c.4774G>T (p.Asp1592Tyr)
c.4666G>T (p.Asp1556Tyr)
c.4729G>T (p.Asp1577Tyr)
c.4699G>T (p.Asp1567Tyr)
c.4771G>T (p.Asp1591Tyr)
3g.38551544C>GCA352143144SCN5Ac.4825G>C (p.Asp1609His)
c.4828G>C (p.Asp1610His)
c.4774G>C (p.Asp1592His)
c.4666G>C (p.Asp1556His)
c.4729G>C (p.Asp1577His)
c.4699G>C (p.Asp1567His)
c.4771G>C (p.Asp1591His)
3g.38551544C>TCA352143145SCN5Ac.4825G>A (p.Asp1609Asn)
c.4828G>A (p.Asp1610Asn)
c.4774G>A (p.Asp1592Asn)
c.4666G>A (p.Asp1556Asn)
c.4729G>A (p.Asp1577Asn)
c.4699G>A (p.Asp1567Asn)
c.4771G>A (p.Asp1591Asn)
 gnomAD v3 gnomAD v4
3g.38551544_38551545insGCCA1046987169SCN5Ac.4825_4826insCG (p.Asp1609AlafsTer22)
c.4828_4829insCG (p.Asp1610AlafsTer22)
c.4774_4775insCG (p.Asp1592AlafsTer22)
c.4666_4667insCG (p.Asp1556AlafsTer22)
c.4729_4730insCG (p.Asp1577AlafsTer22)
c.4699_4700insCG (p.Asp1567AlafsTer22)
c.4771_4772insCG (p.Asp1591AlafsTer22)
 gnomAD v3 gnomAD v4
3g.38551544_38551546delCA1046987173SCN5Ac.4823_4825del (p.Ser1608_Asp1609delinsTyr)
c.4826_4828del (p.Ser1609_Asp1610delinsTyr)
c.4772_4774del (p.Ser1591_Asp1592delinsTyr)
c.4664_4666del (p.Ser1555_Asp1556delinsTyr)
c.4727_4729del (p.Ser1576_Asp1577delinsTyr)
c.4697_4699del (p.Ser1566_Asp1567delinsTyr)
c.4769_4771del (p.Ser1590_Asp1591delinsTyr)
 gnomAD v3 gnomAD v4
3g.38551545C>ACA433134357SCN5Ac.4824G>T (p.Ser1608=)
c.4827G>T (p.Ser1609=)
c.4773G>T (p.Ser1591=)
c.4665G>T (p.Ser1555=)
c.4728G>T (p.Ser1576=)
c.4698G>T (p.Ser1566=)
c.4770G>T (p.Ser1590=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
3g.38551545C=CA1358558377SCN5Ac.4824G= (p.Ser1608=)
c.4827G= (p.Ser1609=)
c.4773G= (p.Ser1591=)
c.4665G= (p.Ser1555=)
c.4728G= (p.Ser1576=)
c.4698G= (p.Ser1566=)
c.4770G= (p.Ser1590=)
3g.38551545C>GCA433134358SCN5Ac.4824G>C (p.Ser1608=)
c.4827G>C (p.Ser1609=)
c.4773G>C (p.Ser1591=)
c.4665G>C (p.Ser1555=)
c.4728G>C (p.Ser1576=)
c.4698G>C (p.Ser1566=)
c.4770G>C (p.Ser1590=)
 gnomAD v3 gnomAD v4
3g.38551545C>TCA10616335SCN5Ac.4824G>A (p.Ser1608=)
c.4827G>A (p.Ser1609=)
c.4773G>A (p.Ser1591=)
c.4665G>A (p.Ser1555=)
c.4728G>A (p.Ser1576=)
c.4698G>A (p.Ser1566=)
c.4770G>A (p.Ser1590=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
3g.38551545_38551556delCA1046987184SCN5Ac.4813_4824del (p.Thr1605_Ser1608del)
c.4816_4827del (p.Thr1606_Ser1609del)
c.4762_4773del (p.Thr1588_Ser1591del)
c.4654_4665del (p.Thr1552_Ser1555del)
c.4717_4728del (p.Thr1573_Ser1576del)
c.4687_4698del (p.Thr1563_Ser1566del)
c.4759_4770del (p.Thr1587_Ser1590del)
 gnomAD v3 gnomAD v4
3g.38551546G>ACA063800SCN5Ac.4823C>T (p.Ser1608Leu)
c.4826C>T (p.Ser1609Leu)
c.4772C>T (p.Ser1591Leu)
c.4664C>T (p.Ser1555Leu)
c.4727C>T (p.Ser1576Leu)
c.4697C>T (p.Ser1566Leu)
c.4769C>T (p.Ser1590Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
3g.38551546G>CCA018618SCN5Ac.4823C>G (p.Ser1608Trp)
c.4826C>G (p.Ser1609Trp)
c.4772C>G (p.Ser1591Trp)
c.4664C>G (p.Ser1555Trp)
c.4727C>G (p.Ser1576Trp)
c.4697C>G (p.Ser1566Trp)
c.4769C>G (p.Ser1590Trp)
 ClinVar dbSNP gnomAD v4
3g.38551546G=CA1358558389SCN5Ac.4823C= (p.Ser1608=)
c.4826C= (p.Ser1609=)
c.4772C= (p.Ser1591=)
c.4664C= (p.Ser1555=)
c.4727C= (p.Ser1576=)
c.4697C= (p.Ser1566=)
c.4769C= (p.Ser1590=)
3g.38551546G>TCA352143146SCN5Ac.4823C>A (p.Ser1608Ter)
c.4826C>A (p.Ser1609Ter)
c.4772C>A (p.Ser1591Ter)
c.4664C>A (p.Ser1555Ter)
c.4727C>A (p.Ser1576Ter)
c.4697C>A (p.Ser1566Ter)
c.4769C>A (p.Ser1590Ter)
 dbSNP
3g.38551547_38551550delCA1046987209SCN5Ac.4820_4823del (p.Leu1607ArgfsTer22)
c.4823_4826del (p.Leu1608ArgfsTer22)
c.4769_4772del (p.Leu1590ArgfsTer22)
c.4661_4664del (p.Leu1554ArgfsTer22)
c.4724_4727del (p.Leu1575ArgfsTer22)
c.4694_4697del (p.Leu1565ArgfsTer22)
c.4766_4769del (p.Leu1589ArgfsTer22)
 gnomAD v3 gnomAD v4
3g.38551546_38551547insTGTCA1046987222SCN5Ac.4822_4823insACA (p.Ser1608delinsTyrThr)
c.4825_4826insACA (p.Ser1609delinsTyrThr)
c.4771_4772insACA (p.Ser1591delinsTyrThr)
c.4663_4664insACA (p.Ser1555delinsTyrThr)
c.4726_4727insACA (p.Ser1576delinsTyrThr)
c.4696_4697insACA (p.Ser1566delinsTyrThr)
c.4768_4769insACA (p.Ser1590delinsTyrThr)
 gnomAD v3 gnomAD v4
3g.38551547A>CCA352143147SCN5Ac.4822T>G (p.Ser1608Ala)
c.4825T>G (p.Ser1609Ala)
c.4771T>G (p.Ser1591Ala)
c.4663T>G (p.Ser1555Ala)
c.4726T>G (p.Ser1576Ala)
c.4696T>G (p.Ser1566Ala)
c.4768T>G (p.Ser1590Ala)
3g.38551547A>GCA352143148SCN5Ac.4822T>C (p.Ser1608Pro)
c.4825T>C (p.Ser1609Pro)
c.4771T>C (p.Ser1591Pro)
c.4663T>C (p.Ser1555Pro)
c.4726T>C (p.Ser1576Pro)
c.4696T>C (p.Ser1566Pro)
c.4768T>C (p.Ser1590Pro)
3g.38551547A>TCA352143149SCN5Ac.4822T>A (p.Ser1608Thr)
c.4825T>A (p.Ser1609Thr)
c.4771T>A (p.Ser1591Thr)
c.4663T>A (p.Ser1555Thr)
c.4726T>A (p.Ser1576Thr)
c.4696T>A (p.Ser1566Thr)
c.4768T>A (p.Ser1590Thr)
 gnomAD v3 gnomAD v4
3g.38551548G>ACA018610SCN5Ac.4821C>T (p.Leu1607=)
c.4824C>T (p.Leu1608=)
c.4770C>T (p.Leu1590=)
c.4662C>T (p.Leu1554=)
c.4725C>T (p.Leu1575=)
c.4695C>T (p.Leu1565=)
c.4767C>T (p.Leu1589=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38551548G>CCA72938423SCN5Ac.4821C>G (p.Leu1607=)
c.4824C>G (p.Leu1608=)
c.4770C>G (p.Leu1590=)
c.4662C>G (p.Leu1554=)
c.4725C>G (p.Leu1575=)
c.4695C>G (p.Leu1565=)
c.4767C>G (p.Leu1589=)
 ClinVar dbSNP
3g.38551548G=CA1358558393SCN5Ac.4821C= (p.Leu1607=)
c.4824C= (p.Leu1608=)
c.4770C= (p.Leu1590=)
c.4662C= (p.Leu1554=)
c.4725C= (p.Leu1575=)
c.4695C= (p.Leu1565=)
c.4767C= (p.Leu1589=)
3g.38551548G>TCA433134359SCN5Ac.4821C>A (p.Leu1607=)
c.4824C>A (p.Leu1608=)
c.4770C>A (p.Leu1590=)
c.4662C>A (p.Leu1554=)
c.4725C>A (p.Leu1575=)
c.4695C>A (p.Leu1565=)
c.4767C>A (p.Leu1589=)
3g.38551549A>CCA352143150SCN5Ac.4820T>G (p.Leu1607Arg)
c.4823T>G (p.Leu1608Arg)
c.4769T>G (p.Leu1590Arg)
c.4661T>G (p.Leu1554Arg)
c.4724T>G (p.Leu1575Arg)
c.4694T>G (p.Leu1565Arg)
c.4766T>G (p.Leu1589Arg)
 ClinVar
3g.38551549A>GCA352143151SCN5Ac.4820T>C (p.Leu1607Pro)
c.4823T>C (p.Leu1608Pro)
c.4769T>C (p.Leu1590Pro)
c.4661T>C (p.Leu1554Pro)
c.4724T>C (p.Leu1575Pro)
c.4694T>C (p.Leu1565Pro)
c.4766T>C (p.Leu1589Pro)
3g.38551549A>TCA352143152SCN5Ac.4820T>A (p.Leu1607His)
c.4823T>A (p.Leu1608His)
c.4769T>A (p.Leu1590His)
c.4661T>A (p.Leu1554His)
c.4724T>A (p.Leu1575His)
c.4694T>A (p.Leu1565His)
c.4766T>A (p.Leu1589His)
3g.38551549_38551554delCA1046987236SCN5Ac.4815_4820del (p.Val1606_Leu1607del)
c.4818_4823del (p.Val1607_Leu1608del)
c.4764_4769del (p.Val1589_Leu1590del)
c.4656_4661del (p.Val1553_Leu1554del)
c.4719_4724del (p.Val1574_Leu1575del)
c.4689_4694del (p.Val1564_Leu1565del)
c.4761_4766del (p.Val1588_Leu1589del)
 gnomAD v3 gnomAD v4
3g.38551550G>ACA352143153SCN5Ac.4819C>T (p.Leu1607Phe)
c.4822C>T (p.Leu1608Phe)
c.4768C>T (p.Leu1590Phe)
c.4660C>T (p.Leu1554Phe)
c.4723C>T (p.Leu1575Phe)
c.4693C>T (p.Leu1565Phe)
c.4765C>T (p.Leu1589Phe)
3g.38551550G>CCA352143154SCN5Ac.4819C>G (p.Leu1607Val)
c.4822C>G (p.Leu1608Val)
c.4768C>G (p.Leu1590Val)
c.4660C>G (p.Leu1554Val)
c.4723C>G (p.Leu1575Val)
c.4693C>G (p.Leu1565Val)
c.4765C>G (p.Leu1589Val)
3g.38551550G>TCA352143155SCN5Ac.4819C>A (p.Leu1607Ile)
c.4822C>A (p.Leu1608Ile)
c.4768C>A (p.Leu1590Ile)
c.4660C>A (p.Leu1554Ile)
c.4723C>A (p.Leu1575Ile)
c.4693C>A (p.Leu1565Ile)
c.4765C>A (p.Leu1589Ile)
 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
3g.38551551C>ACA433134360SCN5Ac.4818G>T (p.Val1606=)
c.4821G>T (p.Val1607=)
c.4767G>T (p.Val1589=)
c.4659G>T (p.Val1553=)
c.4722G>T (p.Val1574=)
c.4692G>T (p.Val1564=)
c.4764G>T (p.Val1588=)
3g.38551551C>GCA433134361SCN5Ac.4818G>C (p.Val1606=)
c.4821G>C (p.Val1607=)
c.4767G>C (p.Val1589=)
c.4659G>C (p.Val1553=)
c.4722G>C (p.Val1574=)
c.4692G>C (p.Val1564=)
c.4764G>C (p.Val1588=)
3g.38551551C>TCA433134362SCN5Ac.4818G>A (p.Val1606=)
c.4821G>A (p.Val1607=)
c.4767G>A (p.Val1589=)
c.4659G>A (p.Val1553=)
c.4722G>A (p.Val1574=)
c.4692G>A (p.Val1564=)
c.4764G>A (p.Val1588=)
 gnomAD v4
3g.38551552A>CCA352143156SCN5Ac.4817T>G (p.Val1606Gly)
c.4820T>G (p.Val1607Gly)
c.4766T>G (p.Val1589Gly)
c.4658T>G (p.Val1553Gly)
c.4721T>G (p.Val1574Gly)
c.4691T>G (p.Val1564Gly)
c.4763T>G (p.Val1588Gly)
3g.38551552A>GCA352143157SCN5Ac.4817T>C (p.Val1606Ala)
c.4820T>C (p.Val1607Ala)
c.4766T>C (p.Val1589Ala)
c.4658T>C (p.Val1553Ala)
c.4721T>C (p.Val1574Ala)
c.4691T>C (p.Val1564Ala)
c.4763T>C (p.Val1588Ala)
3g.38551552A>TCA352143158SCN5Ac.4817T>A (p.Val1606Glu)
c.4820T>A (p.Val1607Glu)
c.4766T>A (p.Val1589Glu)
c.4658T>A (p.Val1553Glu)
c.4721T>A (p.Val1574Glu)
c.4691T>A (p.Val1564Glu)
c.4763T>A (p.Val1588Glu)
 gnomAD v3 gnomAD v4
3g.38551552_38551553insTCA1046987246SCN5Ac.4816_4817insA (p.Val1606AspfsTer?)
c.4819_4820insA (p.Val1607AspfsTer?)
c.4765_4766insA (p.Val1589AspfsTer?)
c.4657_4658insA (p.Val1553AspfsTer?)
c.4720_4721insA (p.Val1574AspfsTer?)
c.4690_4691insA (p.Val1564AspfsTer?)
c.4762_4763insA (p.Val1588AspfsTer?)
 gnomAD v3 gnomAD v4
3g.38551553C>ACA352143161SCN5Ac.4816G>T (p.Val1606Leu)
c.4819G>T (p.Val1607Leu)
c.4765G>T (p.Val1589Leu)
c.4657G>T (p.Val1553Leu)
c.4720G>T (p.Val1574Leu)
c.4690G>T (p.Val1564Leu)
c.4762G>T (p.Val1588Leu)
 ClinVar dbSNP gnomAD v3 gnomAD v4
3g.38551553C=CA1358558394SCN5Ac.4816G= (p.Val1606=)
c.4819G= (p.Val1607=)
c.4765G= (p.Val1589=)
c.4657G= (p.Val1553=)
c.4720G= (p.Val1574=)
c.4690G= (p.Val1564=)
c.4762G= (p.Val1588=)
3g.38551553C>GCA352143160SCN5Ac.4816G>C (p.Val1606Leu)
c.4819G>C (p.Val1607Leu)
c.4765G>C (p.Val1589Leu)
c.4657G>C (p.Val1553Leu)
c.4720G>C (p.Val1574Leu)
c.4690G>C (p.Val1564Leu)
c.4762G>C (p.Val1588Leu)
3g.38551553C>TCA352143159SCN5Ac.4816G>A (p.Val1606Met)
c.4819G>A (p.Val1607Met)
c.4765G>A (p.Val1589Met)
c.4657G>A (p.Val1553Met)
c.4720G>A (p.Val1574Met)
c.4690G>A (p.Val1564Met)
c.4762G>A (p.Val1588Met)
3g.38551554A=CA1358558395SCN5Ac.4815T= (p.Thr1605=)
c.4818T= (p.Thr1606=)
c.4764T= (p.Thr1588=)
c.4656T= (p.Thr1552=)
c.4719T= (p.Thr1573=)
c.4689T= (p.Thr1563=)
c.4761T= (p.Thr1587=)
3g.38551554A>CCA433134363SCN5Ac.4815T>G (p.Thr1605=)
c.4818T>G (p.Thr1606=)
c.4764T>G (p.Thr1588=)
c.4656T>G (p.Thr1552=)
c.4719T>G (p.Thr1573=)
c.4689T>G (p.Thr1563=)
c.4761T>G (p.Thr1587=)
 gnomAD v4
3g.38551554A>GCA063750SCN5Ac.4815T>C (p.Thr1605=)
c.4818T>C (p.Thr1606=)
c.4764T>C (p.Thr1588=)
c.4656T>C (p.Thr1552=)
c.4719T>C (p.Thr1573=)
c.4689T>C (p.Thr1563=)
c.4761T>C (p.Thr1587=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38551554A>TCA433134365SCN5Ac.4815T>A (p.Thr1605=)
c.4818T>A (p.Thr1606=)
c.4764T>A (p.Thr1588=)
c.4656T>A (p.Thr1552=)
c.4719T>A (p.Thr1573=)
c.4689T>A (p.Thr1563=)
c.4761T>A (p.Thr1587=)
3g.38551555G>ACA063743SCN5Ac.4814C>T (p.Thr1605Ile)
c.4817C>T (p.Thr1606Ile)
c.4763C>T (p.Thr1588Ile)
c.4655C>T (p.Thr1552Ile)
c.4718C>T (p.Thr1573Ile)
c.4688C>T (p.Thr1563Ile)
c.4760C>T (p.Thr1587Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.38551555G>CCA352143162SCN5Ac.4814C>G (p.Thr1605Ser)
c.4817C>G (p.Thr1606Ser)
c.4763C>G (p.Thr1588Ser)
c.4655C>G (p.Thr1552Ser)
c.4718C>G (p.Thr1573Ser)
c.4688C>G (p.Thr1563Ser)
c.4760C>G (p.Thr1587Ser)
3g.38551555G=CA1358558396SCN5Ac.4814C= (p.Thr1605=)
c.4817C= (p.Thr1606=)
c.4763C= (p.Thr1588=)
c.4655C= (p.Thr1552=)
c.4718C= (p.Thr1573=)
c.4688C= (p.Thr1563=)
c.4760C= (p.Thr1587=)
3g.38551555G>TCA352143163SCN5Ac.4814C>A (p.Thr1605Asn)
c.4817C>A (p.Thr1606Asn)
c.4763C>A (p.Thr1588Asn)
c.4655C>A (p.Thr1552Asn)
c.4718C>A (p.Thr1573Asn)
c.4688C>A (p.Thr1563Asn)
c.4760C>A (p.Thr1587Asn)
3g.38551555_38551561delCA1046987253SCN5Ac.4811-3_4814del
c.4814-3_4817del
c.4760-3_4763del
c.4652-3_4655del
c.4715-3_4718del
c.4685-3_4688del
c.4757-3_4760del
 gnomAD v3 gnomAD v4
3g.38551556T>ACA352143164SCN5Ac.4813A>T (p.Thr1605Ser)
c.4816A>T (p.Thr1606Ser)
c.4762A>T (p.Thr1588Ser)
c.4654A>T (p.Thr1552Ser)
c.4717A>T (p.Thr1573Ser)
c.4687A>T (p.Thr1563Ser)
c.4759A>T (p.Thr1587Ser)
3g.38551556T>CCA352143165SCN5Ac.4813A>G (p.Thr1605Ala)
c.4816A>G (p.Thr1606Ala)
c.4762A>G (p.Thr1588Ala)
c.4654A>G (p.Thr1552Ala)
c.4717A>G (p.Thr1573Ala)
c.4687A>G (p.Thr1563Ala)
c.4759A>G (p.Thr1587Ala)
3g.38551556T>GCA352143166SCN5Ac.4813A>C (p.Thr1605Pro)
c.4816A>C (p.Thr1606Pro)
c.4762A>C (p.Thr1588Pro)
c.4654A>C (p.Thr1552Pro)
c.4717A>C (p.Thr1573Pro)
c.4687A>C (p.Thr1563Pro)
c.4759A>C (p.Thr1587Pro)
3g.38551558_38551561dupCA2697550808SCN5Ac.4811-1_4813dup
c.4814-1_4816dup
c.4760-1_4762dup
c.4652-1_4654dup
c.4715-1_4717dup
c.4685-1_4687dup
c.4757-1_4759dup
 ClinVar
3g.38551556_38551557insCCA1046987259SCN5Ac.4812_4813insG (p.Thr1605AspfsTer?)
c.4815_4816insG (p.Thr1606AspfsTer?)
c.4761_4762insG (p.Thr1588AspfsTer?)
c.4653_4654insG (p.Thr1552AspfsTer?)
c.4716_4717insG (p.Thr1573AspfsTer?)
c.4686_4687insG (p.Thr1563AspfsTer?)
c.4758_4759insG (p.Thr1587AspfsTer?)
 gnomAD v3 gnomAD v4
3g.38551557G>ACA063738SCN5Ac.4812C>T (p.Gly1604=)
c.4815C>T (p.Gly1605=)
c.4761C>T (p.Gly1587=)
c.4653C>T (p.Gly1551=)
c.4716C>T (p.Gly1572=)
c.4686C>T (p.Gly1562=)
c.4758C>T (p.Gly1586=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38551557G>CCA433134367SCN5Ac.4812C>G (p.Gly1604=)
c.4815C>G (p.Gly1605=)
c.4761C>G (p.Gly1587=)
c.4653C>G (p.Gly1551=)
c.4716C>G (p.Gly1572=)
c.4686C>G (p.Gly1562=)
c.4758C>G (p.Gly1586=)
 ClinVar
3g.38551557G=CA1358558397SCN5Ac.4812C= (p.Gly1604=)
c.4815C= (p.Gly1605=)
c.4761C= (p.Gly1587=)
c.4653C= (p.Gly1551=)
c.4716C= (p.Gly1572=)
c.4686C= (p.Gly1562=)
c.4758C= (p.Gly1586=)
3g.38551557G>TCA433134368SCN5Ac.4812C>A (p.Gly1604=)
c.4815C>A (p.Gly1605=)
c.4761C>A (p.Gly1587=)
c.4653C>A (p.Gly1551=)
c.4716C>A (p.Gly1572=)
c.4686C>A (p.Gly1562=)
c.4758C>A (p.Gly1586=)
3g.38551557_38551558insGTCGCA1046987266SCN5Ac.4812_4813insGACC (p.Thr1605AspfsTer?)
c.4815_4816insGACC (p.Thr1606AspfsTer?)
c.4761_4762insGACC (p.Thr1588AspfsTer?)
c.4653_4654insGACC (p.Thr1552AspfsTer?)
c.4716_4717insGACC (p.Thr1573AspfsTer?)
c.4686_4687insGACC (p.Thr1563AspfsTer?)
c.4758_4759insGACC (p.Thr1587AspfsTer?)
 gnomAD v3 gnomAD v4

Number of alleles fetched