Chr Mutation (hg38) CAid Gene Transcript Linkouts
13g.23339016T>ACA483162490SACSc.4419A>T (p.Pro1473=)
c.4860A>T (p.Pro1620=)
c.4887A>T (p.Pro1629=)
c.4911A>T (p.Pro1637=)
c.4878A>T (p.Pro1626=)
c.4851A>T (p.Pro1617=)
c.2610A>T (p.Pro870=)
n.1058-9532A>T (p.=)
n.2129+2429A>T
13g.23339016T>CCA483162491SACSc.4419A>G (p.Pro1473=)
c.4860A>G (p.Pro1620=)
c.4887A>G (p.Pro1629=)
c.4911A>G (p.Pro1637=)
c.4878A>G (p.Pro1626=)
c.4851A>G (p.Pro1617=)
c.2610A>G (p.Pro870=)
n.1058-9532A>G (p.=)
n.2129+2429A>G
13g.23339016T>GCA6911338SACSc.4419A>C (p.Pro1473=)
c.4860A>C (p.Pro1620=)
c.4887A>C (p.Pro1629=)
c.4911A>C (p.Pro1637=)
c.4878A>C (p.Pro1626=)
c.4851A>C (p.Pro1617=)
c.2610A>C (p.Pro870=)
n.1058-9532A>C (p.=)
n.2129+2429A>C
dbSNP ExAC gnomAD
13g.23339017G>ACA387527236SACSc.4418C>T (p.Pro1473Leu)
c.4859C>T (p.Pro1620Leu)
c.4886C>T (p.Pro1629Leu)
c.4910C>T (p.Pro1637Leu)
c.4877C>T (p.Pro1626Leu)
c.4850C>T (p.Pro1617Leu)
c.2609C>T (p.Pro870Leu)
n.1058-9533C>T (p.=)
n.2129+2428C>T
13g.23339017G>CCA387527237SACSc.4418C>G (p.Pro1473Arg)
c.4859C>G (p.Pro1620Arg)
c.4886C>G (p.Pro1629Arg)
c.4910C>G (p.Pro1637Arg)
c.4877C>G (p.Pro1626Arg)
c.4850C>G (p.Pro1617Arg)
c.2609C>G (p.Pro870Arg)
n.1058-9533C>G (p.=)
n.2129+2428C>G
13g.23339017G>TCA387527238SACSc.4418C>A (p.Pro1473Gln)
c.4859C>A (p.Pro1620Gln)
c.4886C>A (p.Pro1629Gln)
c.4910C>A (p.Pro1637Gln)
c.4877C>A (p.Pro1626Gln)
c.4850C>A (p.Pro1617Gln)
c.2609C>A (p.Pro870Gln)
n.1058-9533C>A (p.=)
n.2129+2428C>A
13g.23339018G>ACA387527241SACSc.4417C>T (p.Pro1473Ser)
c.4858C>T (p.Pro1620Ser)
c.4885C>T (p.Pro1629Ser)
c.4909C>T (p.Pro1637Ser)
c.4876C>T (p.Pro1626Ser)
c.4849C>T (p.Pro1617Ser)
c.2608C>T (p.Pro870Ser)
n.1058-9534C>T (p.=)
n.2129+2427C>T
13g.23339018G>CCA387527243SACSc.4417C>G (p.Pro1473Ala)
c.4858C>G (p.Pro1620Ala)
c.4885C>G (p.Pro1629Ala)
c.4909C>G (p.Pro1637Ala)
c.4876C>G (p.Pro1626Ala)
c.4849C>G (p.Pro1617Ala)
c.2608C>G (p.Pro870Ala)
n.1058-9534C>G (p.=)
n.2129+2427C>G
13g.23339018G>TCA387527245SACSc.4417C>A (p.Pro1473Thr)
c.4858C>A (p.Pro1620Thr)
c.4885C>A (p.Pro1629Thr)
c.4909C>A (p.Pro1637Thr)
c.4876C>A (p.Pro1626Thr)
c.4849C>A (p.Pro1617Thr)
c.2608C>A (p.Pro870Thr)
n.1058-9534C>A (p.=)
n.2129+2427C>A
13g.23339019T>ACA387527251SACSc.4416A>T (p.Lys1472Asn)
c.4857A>T (p.Lys1619Asn)
c.4884A>T (p.Lys1628Asn)
c.4908A>T (p.Lys1636Asn)
c.4875A>T (p.Lys1625Asn)
c.4848A>T (p.Lys1616Asn)
c.2607A>T (p.Lys869Asn)
n.1058-9535A>T (p.=)
n.2129+2426A>T
13g.23339019T>CCA483162493SACSc.4416A>G (p.Lys1472=)
c.4857A>G (p.Lys1619=)
c.4884A>G (p.Lys1628=)
c.4908A>G (p.Lys1636=)
c.4875A>G (p.Lys1625=)
c.4848A>G (p.Lys1616=)
c.2607A>G (p.Lys869=)
n.1058-9535A>G (p.=)
n.2129+2426A>G
13g.23339019T>GCA387527248SACSc.4416A>C (p.Lys1472Asn)
c.4857A>C (p.Lys1619Asn)
c.4884A>C (p.Lys1628Asn)
c.4908A>C (p.Lys1636Asn)
c.4875A>C (p.Lys1625Asn)
c.4848A>C (p.Lys1616Asn)
c.2607A>C (p.Lys869Asn)
n.1058-9535A>C (p.=)
n.2129+2426A>C
13g.23339020T>ACA387527253SACSc.4415A>T (p.Lys1472Ile)
c.4856A>T (p.Lys1619Ile)
c.4883A>T (p.Lys1628Ile)
c.4907A>T (p.Lys1636Ile)
c.4874A>T (p.Lys1625Ile)
c.4847A>T (p.Lys1616Ile)
c.2606A>T (p.Lys869Ile)
n.1058-9536A>T (p.=)
n.2129+2425A>T
13g.23339020T>CCA387527255SACSc.4415A>G (p.Lys1472Arg)
c.4856A>G (p.Lys1619Arg)
c.4883A>G (p.Lys1628Arg)
c.4907A>G (p.Lys1636Arg)
c.4874A>G (p.Lys1625Arg)
c.4847A>G (p.Lys1616Arg)
c.2606A>G (p.Lys869Arg)
n.1058-9536A>G (p.=)
n.2129+2425A>G
13g.23339020T>GCA387527257SACSc.4415A>C (p.Lys1472Thr)
c.4856A>C (p.Lys1619Thr)
c.4883A>C (p.Lys1628Thr)
c.4907A>C (p.Lys1636Thr)
c.4874A>C (p.Lys1625Thr)
c.4847A>C (p.Lys1616Thr)
c.2606A>C (p.Lys869Thr)
n.1058-9536A>C (p.=)
n.2129+2425A>C
13g.23339021T>ACA387527260SACSc.4414A>T (p.Lys1472Ter)
c.4855A>T (p.Lys1619Ter)
c.4882A>T (p.Lys1628Ter)
c.4906A>T (p.Lys1636Ter)
c.4873A>T (p.Lys1625Ter)
c.4846A>T (p.Lys1616Ter)
c.2605A>T (p.Lys869Ter)
n.1058-9537A>T (p.=)
n.2129+2424A>T
13g.23339021T>CCA387527262SACSc.4414A>G (p.Lys1472Glu)
c.4855A>G (p.Lys1619Glu)
c.4882A>G (p.Lys1628Glu)
c.4906A>G (p.Lys1636Glu)
c.4873A>G (p.Lys1625Glu)
c.4846A>G (p.Lys1616Glu)
c.2605A>G (p.Lys869Glu)
n.1058-9537A>G (p.=)
n.2129+2424A>G
13g.23339021T>GCA387527264SACSc.4414A>C (p.Lys1472Gln)
c.4855A>C (p.Lys1619Gln)
c.4882A>C (p.Lys1628Gln)
c.4906A>C (p.Lys1636Gln)
c.4873A>C (p.Lys1625Gln)
c.4846A>C (p.Lys1616Gln)
c.2605A>C (p.Lys869Gln)
n.1058-9537A>C (p.=)
n.2129+2424A>C
13g.23339022G>ACA483162494SACSc.4413C>T (p.Phe1471=)
c.4854C>T (p.Phe1618=)
c.4881C>T (p.Phe1627=)
c.4905C>T (p.Phe1635=)
c.4872C>T (p.Phe1624=)
c.4845C>T (p.Phe1615=)
c.2604C>T (p.Phe868=)
n.1058-9538C>T (p.=)
n.2129+2423C>T
13g.23339022G>CCA387527267SACSc.4413C>G (p.Phe1471Leu)
c.4854C>G (p.Phe1618Leu)
c.4881C>G (p.Phe1627Leu)
c.4905C>G (p.Phe1635Leu)
c.4872C>G (p.Phe1624Leu)
c.4845C>G (p.Phe1615Leu)
c.2604C>G (p.Phe868Leu)
n.1058-9538C>G (p.=)
n.2129+2423C>G
13g.23339022G>TCA387527269SACSc.4413C>A (p.Phe1471Leu)
c.4854C>A (p.Phe1618Leu)
c.4881C>A (p.Phe1627Leu)
c.4905C>A (p.Phe1635Leu)
c.4872C>A (p.Phe1624Leu)
c.4845C>A (p.Phe1615Leu)
c.2604C>A (p.Phe868Leu)
n.1058-9538C>A (p.=)
n.2129+2423C>A
13g.23339023A>CCA387527272SACSc.4412T>G (p.Phe1471Cys)
c.4853T>G (p.Phe1618Cys)
c.4880T>G (p.Phe1627Cys)
c.4904T>G (p.Phe1635Cys)
c.4871T>G (p.Phe1624Cys)
c.4844T>G (p.Phe1615Cys)
c.2603T>G (p.Phe868Cys)
n.1058-9539T>G (p.=)
n.2129+2422T>G
13g.23339023A>GCA387527274SACSc.4412T>C (p.Phe1471Ser)
c.4853T>C (p.Phe1618Ser)
c.4880T>C (p.Phe1627Ser)
c.4904T>C (p.Phe1635Ser)
c.4871T>C (p.Phe1624Ser)
c.4844T>C (p.Phe1615Ser)
c.2603T>C (p.Phe868Ser)
n.1058-9539T>C (p.=)
n.2129+2422T>C
13g.23339023A>TCA387527277SACSc.4412T>A (p.Phe1471Tyr)
c.4853T>A (p.Phe1618Tyr)
c.4880T>A (p.Phe1627Tyr)
c.4904T>A (p.Phe1635Tyr)
c.4871T>A (p.Phe1624Tyr)
c.4844T>A (p.Phe1615Tyr)
c.2603T>A (p.Phe868Tyr)
n.1058-9539T>A (p.=)
n.2129+2422T>A
13g.23339024A>CCA387527280SACSc.4411T>G (p.Phe1471Val)
c.4852T>G (p.Phe1618Val)
c.4879T>G (p.Phe1627Val)
c.4903T>G (p.Phe1635Val)
c.4870T>G (p.Phe1624Val)
c.4843T>G (p.Phe1615Val)
c.2602T>G (p.Phe868Val)
n.1058-9540T>G (p.=)
n.2129+2421T>G
13g.23339024A>GCA387527282SACSc.4411T>C (p.Phe1471Leu)
c.4852T>C (p.Phe1618Leu)
c.4879T>C (p.Phe1627Leu)
c.4903T>C (p.Phe1635Leu)
c.4870T>C (p.Phe1624Leu)
c.4843T>C (p.Phe1615Leu)
c.2602T>C (p.Phe868Leu)
n.1058-9540T>C (p.=)
n.2129+2421T>C
13g.23339024A>TCA387527284SACSc.4411T>A (p.Phe1471Ile)
c.4852T>A (p.Phe1618Ile)
c.4879T>A (p.Phe1627Ile)
c.4903T>A (p.Phe1635Ile)
c.4870T>A (p.Phe1624Ile)
c.4843T>A (p.Phe1615Ile)
c.2602T>A (p.Phe868Ile)
n.1058-9540T>A (p.=)
n.2129+2421T>A
13g.23339025C>ACA387527289SACSc.4410G>T (p.Gln1470His)
c.4851G>T (p.Gln1617His)
c.4878G>T (p.Gln1626His)
c.4902G>T (p.Gln1634His)
c.4869G>T (p.Gln1623His)
c.4842G>T (p.Gln1614His)
c.2601G>T (p.Gln867His)
n.1058-9541G>T (p.=)
n.2129+2420G>T
13g.23339025C>GCA387527288SACSc.4410G>C (p.Gln1470His)
c.4851G>C (p.Gln1617His)
c.4878G>C (p.Gln1626His)
c.4902G>C (p.Gln1634His)
c.4869G>C (p.Gln1623His)
c.4842G>C (p.Gln1614His)
c.2601G>C (p.Gln867His)
n.1058-9541G>C (p.=)
n.2129+2420G>C
13g.23339025C>TCA483162498SACSc.4410G>A (p.Gln1470=)
c.4851G>A (p.Gln1617=)
c.4878G>A (p.Gln1626=)
c.4902G>A (p.Gln1634=)
c.4869G>A (p.Gln1623=)
c.4842G>A (p.Gln1614=)
c.2601G>A (p.Gln867=)
n.1058-9541G>A (p.=)
n.2129+2420G>A
13g.23339026T>ACA387527291SACSc.4409A>T (p.Gln1470Leu)
c.4850A>T (p.Gln1617Leu)
c.4877A>T (p.Gln1626Leu)
c.4901A>T (p.Gln1634Leu)
c.4868A>T (p.Gln1623Leu)
c.4841A>T (p.Gln1614Leu)
c.2600A>T (p.Gln867Leu)
n.1058-9542A>T (p.=)
n.2129+2419A>T
13g.23339026T>CCA387527292SACSc.4409A>G (p.Gln1470Arg)
c.4850A>G (p.Gln1617Arg)
c.4877A>G (p.Gln1626Arg)
c.4901A>G (p.Gln1634Arg)
c.4868A>G (p.Gln1623Arg)
c.4841A>G (p.Gln1614Arg)
c.2600A>G (p.Gln867Arg)
n.1058-9542A>G (p.=)
n.2129+2419A>G
13g.23339026T>GCA387527294SACSc.4409A>C (p.Gln1470Pro)
c.4850A>C (p.Gln1617Pro)
c.4877A>C (p.Gln1626Pro)
c.4901A>C (p.Gln1634Pro)
c.4868A>C (p.Gln1623Pro)
c.4841A>C (p.Gln1614Pro)
c.2600A>C (p.Gln867Pro)
n.1058-9542A>C (p.=)
n.2129+2419A>C
13g.23339027G>ACA387527298SACSc.4408C>T (p.Gln1470Ter)
c.4849C>T (p.Gln1617Ter)
c.4876C>T (p.Gln1626Ter)
c.4900C>T (p.Gln1634Ter)
c.4867C>T (p.Gln1623Ter)
c.4840C>T (p.Gln1614Ter)
c.2599C>T (p.Gln867Ter)
n.1058-9543C>T (p.=)
n.2129+2418C>T
13g.23339027G>CCA387527300SACSc.4408C>G (p.Gln1470Glu)
c.4849C>G (p.Gln1617Glu)
c.4876C>G (p.Gln1626Glu)
c.4900C>G (p.Gln1634Glu)
c.4867C>G (p.Gln1623Glu)
c.4840C>G (p.Gln1614Glu)
c.2599C>G (p.Gln867Glu)
n.1058-9543C>G (p.=)
n.2129+2418C>G
13g.23339027G>TCA387527302SACSc.4408C>A (p.Gln1470Lys)
c.4849C>A (p.Gln1617Lys)
c.4876C>A (p.Gln1626Lys)
c.4900C>A (p.Gln1634Lys)
c.4867C>A (p.Gln1623Lys)
c.4840C>A (p.Gln1614Lys)
c.2599C>A (p.Gln867Lys)
n.1058-9543C>A (p.=)
n.2129+2418C>A
13g.23339028A>CCA387527307SACSc.4407T>G (p.Asn1469Lys)
c.4848T>G (p.Asn1616Lys)
c.4875T>G (p.Asn1625Lys)
c.4899T>G (p.Asn1633Lys)
c.4866T>G (p.Asn1622Lys)
c.4839T>G (p.Asn1613Lys)
c.2598T>G (p.Asn866Lys)
n.1058-9544T>G (p.=)
n.2129+2417T>G
13g.23339028A>GCA483162501SACSc.4407T>C (p.Asn1469=)
c.4848T>C (p.Asn1616=)
c.4875T>C (p.Asn1625=)
c.4899T>C (p.Asn1633=)
c.4866T>C (p.Asn1622=)
c.4839T>C (p.Asn1613=)
c.2598T>C (p.Asn866=)
n.1058-9544T>C (p.=)
n.2129+2417T>C
13g.23339028A>TCA387527305SACSc.4407T>A (p.Asn1469Lys)
c.4848T>A (p.Asn1616Lys)
c.4875T>A (p.Asn1625Lys)
c.4899T>A (p.Asn1633Lys)
c.4866T>A (p.Asn1622Lys)
c.4839T>A (p.Asn1613Lys)
c.2598T>A (p.Asn866Lys)
n.1058-9544T>A (p.=)
n.2129+2417T>A
13g.23339029T>ACA387527310SACSc.4406A>T (p.Asn1469Ile)
c.4847A>T (p.Asn1616Ile)
c.4874A>T (p.Asn1625Ile)
c.4898A>T (p.Asn1633Ile)
c.4865A>T (p.Asn1622Ile)
c.4838A>T (p.Asn1613Ile)
c.2597A>T (p.Asn866Ile)
n.1058-9545A>T (p.=)
n.2129+2416A>T
13g.23339029T>CCA387527311SACSc.4406A>G (p.Asn1469Ser)
c.4847A>G (p.Asn1616Ser)
c.4874A>G (p.Asn1625Ser)
c.4898A>G (p.Asn1633Ser)
c.4865A>G (p.Asn1622Ser)
c.4838A>G (p.Asn1613Ser)
c.2597A>G (p.Asn866Ser)
n.1058-9545A>G (p.=)
n.2129+2416A>G
13g.23339029T>GCA387527312SACSc.4406A>C (p.Asn1469Thr)
c.4847A>C (p.Asn1616Thr)
c.4874A>C (p.Asn1625Thr)
c.4898A>C (p.Asn1633Thr)
c.4865A>C (p.Asn1622Thr)
c.4838A>C (p.Asn1613Thr)
c.2597A>C (p.Asn866Thr)
n.1058-9545A>C (p.=)
n.2129+2416A>C
13g.23339030T>ACA246659758SACSc.4405A>T (p.Asn1469Tyr)
c.4846A>T (p.Asn1616Tyr)
c.4873A>T (p.Asn1625Tyr)
c.4897A>T (p.Asn1633Tyr)
c.4864A>T (p.Asn1622Tyr)
c.4837A>T (p.Asn1613Tyr)
c.2596A>T (p.Asn866Tyr)
n.1058-9546A>T (p.=)
n.2129+2415A>T
dbSNP
13g.23339030T>CCA387527316SACSc.4405A>G (p.Asn1469Asp)
c.4846A>G (p.Asn1616Asp)
c.4873A>G (p.Asn1625Asp)
c.4897A>G (p.Asn1633Asp)
c.4864A>G (p.Asn1622Asp)
c.4837A>G (p.Asn1613Asp)
c.2596A>G (p.Asn866Asp)
n.1058-9546A>G (p.=)
n.2129+2415A>G
13g.23339030T>GCA387527318SACSc.4405A>C (p.Asn1469His)
c.4846A>C (p.Asn1616His)
c.4873A>C (p.Asn1625His)
c.4897A>C (p.Asn1633His)
c.4864A>C (p.Asn1622His)
c.4837A>C (p.Asn1613His)
c.2596A>C (p.Asn866His)
n.1058-9546A>C (p.=)
n.2129+2415A>C
gnomAD
13g.23339031A>CCA483162502SACSc.4404T>G (p.Pro1468=)
c.4845T>G (p.Pro1615=)
c.4872T>G (p.Pro1624=)
c.4896T>G (p.Pro1632=)
c.4863T>G (p.Pro1621=)
c.4836T>G (p.Pro1612=)
c.2595T>G (p.Pro865=)
n.1058-9547T>G (p.=)
n.2129+2414T>G
13g.23339031A>GCA483162503SACSc.4404T>C (p.Pro1468=)
c.4845T>C (p.Pro1615=)
c.4872T>C (p.Pro1624=)
c.4896T>C (p.Pro1632=)
c.4863T>C (p.Pro1621=)
c.4836T>C (p.Pro1612=)
c.2595T>C (p.Pro865=)
n.1058-9547T>C (p.=)
n.2129+2414T>C
gnomAD
13g.23339031A>TCA483162504SACSc.4404T>A (p.Pro1468=)
c.4845T>A (p.Pro1615=)
c.4872T>A (p.Pro1624=)
c.4896T>A (p.Pro1632=)
c.4863T>A (p.Pro1621=)
c.4836T>A (p.Pro1612=)
c.2595T>A (p.Pro865=)
n.1058-9547T>A (p.=)
n.2129+2414T>A
13g.23339032G>ACA387527325SACSc.4403C>T (p.Pro1468Leu)
c.4844C>T (p.Pro1615Leu)
c.4871C>T (p.Pro1624Leu)
c.4895C>T (p.Pro1632Leu)
c.4862C>T (p.Pro1621Leu)
c.4835C>T (p.Pro1612Leu)
c.2594C>T (p.Pro865Leu)
n.1058-9548C>T (p.=)
n.2129+2413C>T
gnomAD
13g.23339032G>CCA387527321SACSc.4403C>G (p.Pro1468Arg)
c.4844C>G (p.Pro1615Arg)
c.4871C>G (p.Pro1624Arg)
c.4895C>G (p.Pro1632Arg)
c.4862C>G (p.Pro1621Arg)
c.4835C>G (p.Pro1612Arg)
c.2594C>G (p.Pro865Arg)
n.1058-9548C>G (p.=)
n.2129+2413C>G

Number of alleles fetched