Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.36985580C>ACA444095851NIPBLc.2400C>A (p.Ala800=)
n.2020C>A
c.1-78998C>A (p.=)
c.1656C>A (p.Ala552=)
c.1740C>A (p.Ala580=)
c.783C>A (p.Ala261=)
c.1495+9178C>A (p.=)
5g.36985580C>GCA444095852NIPBLc.2400C>G (p.Ala800=)
n.2020C>G
c.1-78998C>G (p.=)
c.1656C>G (p.Ala552=)
c.1740C>G (p.Ala580=)
c.783C>G (p.Ala261=)
c.1495+9178C>G (p.=)
5g.36985580C>TCA444095853NIPBLc.2400C>T (p.Ala800=)
n.2020C>T
c.1-78998C>T (p.=)
c.1656C>T (p.Ala552=)
c.1740C>T (p.Ala580=)
c.783C>T (p.Ala261=)
c.1495+9178C>T (p.=)
5g.36985581T>ACA359501082NIPBLc.2401T>A (p.Leu801Ile)
n.2021T>A
c.1-78997T>A (p.=)
c.1657T>A (p.Leu553Ile)
c.1741T>A (p.Leu581Ile)
c.784T>A (p.Leu262Ile)
c.1495+9179T>A (p.=)
5g.36985581T>CCA444095856NIPBLc.2401T>C (p.Leu801=)
n.2021T>C
c.1-78997T>C (p.=)
c.1657T>C (p.Leu553=)
c.1741T>C (p.Leu581=)
c.784T>C (p.Leu262=)
c.1495+9179T>C (p.=)
5g.36985581T>GCA117044489NIPBLc.2401T>G (p.Leu801Val)
n.2021T>G
c.1-78997T>G (p.=)
c.1657T>G (p.Leu553Val)
c.1741T>G (p.Leu581Val)
c.784T>G (p.Leu262Val)
c.1495+9179T>G (p.=)
dbSNP
5g.36985581T=CA1539582104NIPBLc.2401T= (p.Leu801=)
n.2021T=
c.1-78997T= (p.=)
c.1657T= (p.Leu553=)
c.1741T= (p.Leu581=)
c.784T= (p.Leu262=)
c.1495+9179T= (p.=)
5g.36985582T>ACA359501083NIPBLc.2402T>A (p.Leu801Ter)
n.2022T>A
c.1-78996T>A (p.=)
c.1658T>A (p.Leu553Ter)
c.1742T>A (p.Leu581Ter)
c.785T>A (p.Leu262Ter)
c.1495+9180T>A (p.=)
5g.36985582T>CCA359501086NIPBLc.2402T>C (p.Leu801Ser)
n.2022T>C
c.1-78996T>C (p.=)
c.1658T>C (p.Leu553Ser)
c.1742T>C (p.Leu581Ser)
c.785T>C (p.Leu262Ser)
c.1495+9180T>C (p.=)
5g.36985582T>GCA359501084NIPBLc.2402T>G (p.Leu801Ter)
n.2022T>G
c.1-78996T>G (p.=)
c.1658T>G (p.Leu553Ter)
c.1742T>G (p.Leu581Ter)
c.785T>G (p.Leu262Ter)
c.1495+9180T>G (p.=)
5g.36985583A=CA1539582109NIPBLc.2403A= (p.Leu801=)
n.2023A=
c.1-78995A= (p.=)
c.1659A= (p.Leu553=)
c.1743A= (p.Leu581=)
c.786A= (p.Leu262=)
c.1495+9181A= (p.=)
5g.36985583A>CCA359501091NIPBLc.2403A>C (p.Leu801Phe)
n.2023A>C
c.1-78995A>C (p.=)
c.1659A>C (p.Leu553Phe)
c.1743A>C (p.Leu581Phe)
c.786A>C (p.Leu262Phe)
c.1495+9181A>C (p.=)
5g.36985583A>GCA3236166NIPBLc.2403A>G (p.Leu801=)
n.2023A>G
c.1-78995A>G (p.=)
c.1659A>G (p.Leu553=)
c.1743A>G (p.Leu581=)
c.786A>G (p.Leu262=)
c.1495+9181A>G (p.=)
dbSNP ExAC gnomAD
5g.36985583A>TCA359501093NIPBLc.2403A>T (p.Leu801Phe)
n.2023A>T
c.1-78995A>T (p.=)
c.1659A>T (p.Leu553Phe)
c.1743A>T (p.Leu581Phe)
c.786A>T (p.Leu262Phe)
c.1495+9181A>T (p.=)
5g.36985584A=CA1539582113NIPBLc.2404A= (p.Lys802=)
n.2024A=
c.1-78994A= (p.=)
c.1660A= (p.Lys554=)
c.1744A= (p.Lys582=)
c.787A= (p.Lys263=)
c.1495+9182A= (p.=)
5g.36985584A>CCA359501097NIPBLc.2404A>C (p.Lys802Gln)
n.2024A>C
c.1-78994A>C (p.=)
c.1660A>C (p.Lys554Gln)
c.1744A>C (p.Lys582Gln)
c.787A>C (p.Lys263Gln)
c.1495+9182A>C (p.=)
5g.36985584A>GCA3236167NIPBLc.2404A>G (p.Lys802Glu)
n.2024A>G
c.1-78994A>G (p.=)
c.1660A>G (p.Lys554Glu)
c.1744A>G (p.Lys582Glu)
c.787A>G (p.Lys263Glu)
c.1495+9182A>G (p.=)
dbSNP ExAC gnomAD
5g.36985584A>TCA359501100NIPBLc.2404A>T (p.Lys802Ter)
n.2024A>T
c.1-78994A>T (p.=)
c.1660A>T (p.Lys554Ter)
c.1744A>T (p.Lys582Ter)
c.787A>T (p.Lys263Ter)
c.1495+9182A>T (p.=)
5g.36985585A=CA1539582118NIPBLc.2405A= (p.Lys802=)
n.2025A=
c.1-78993A= (p.=)
c.1661A= (p.Lys554=)
c.1745A= (p.Lys582=)
c.788A= (p.Lys263=)
c.1495+9183A= (p.=)
5g.36985585A>CCA359501103NIPBLc.2405A>C (p.Lys802Thr)
n.2025A>C
c.1-78993A>C (p.=)
c.1661A>C (p.Lys554Thr)
c.1745A>C (p.Lys582Thr)
c.788A>C (p.Lys263Thr)
c.1495+9183A>C (p.=)
5g.36985585A>GCA359501106NIPBLc.2405A>G (p.Lys802Arg)
n.2025A>G
c.1-78993A>G (p.=)
c.1661A>G (p.Lys554Arg)
c.1745A>G (p.Lys582Arg)
c.788A>G (p.Lys263Arg)
c.1495+9183A>G (p.=)
5g.36985585A>TCA359501107NIPBLc.2405A>T (p.Lys802Met)
n.2025A>T
c.1-78993A>T (p.=)
c.1661A>T (p.Lys554Met)
c.1745A>T (p.Lys582Met)
c.788A>T (p.Lys263Met)
c.1495+9183A>T (p.=)
5g.36985586G>ACA444095860NIPBLc.2406G>A (p.Lys802=)
n.2026G>A
c.1-78992G>A (p.=)
c.1662G>A (p.Lys554=)
c.1746G>A (p.Lys582=)
c.789G>A (p.Lys263=)
c.1495+9184G>A (p.=)
5g.36985586G>CCA359501110NIPBLc.2406G>C (p.Lys802Asn)
n.2026G>C
c.1-78992G>C (p.=)
c.1662G>C (p.Lys554Asn)
c.1746G>C (p.Lys582Asn)
c.789G>C (p.Lys263Asn)
c.1495+9184G>C (p.=)
5g.36985586G>TCA359501112NIPBLc.2406G>T (p.Lys802Asn)
n.2026G>T
c.1-78992G>T (p.=)
c.1662G>T (p.Lys554Asn)
c.1746G>T (p.Lys582Asn)
c.789G>T (p.Lys263Asn)
c.1495+9184G>T (p.=)
5g.36985587C>ACA359501114NIPBLc.2407C>A (p.Gln803Lys)
n.2027C>A
c.1-78991C>A (p.=)
c.1663C>A (p.Gln555Lys)
c.1747C>A (p.Gln583Lys)
c.790C>A (p.Gln264Lys)
c.1495+9185C>A (p.=)
5g.36985587C=CA1539582128NIPBLc.2407C= (p.Gln803=)
n.2027C=
c.1-78991C= (p.=)
c.1663C= (p.Gln555=)
c.1747C= (p.Gln583=)
c.790C= (p.Gln264=)
c.1495+9185C= (p.=)
5g.36985587C>GCA359501117NIPBLc.2407C>G (p.Gln803Glu)
n.2027C>G
c.1-78991C>G (p.=)
c.1663C>G (p.Gln555Glu)
c.1747C>G (p.Gln583Glu)
c.790C>G (p.Gln264Glu)
c.1495+9185C>G (p.=)
5g.36985587C>TCA359501120NIPBLc.2407C>T (p.Gln803Ter)
n.2027C>T
c.1-78991C>T (p.=)
c.1663C>T (p.Gln555Ter)
c.1747C>T (p.Gln583Ter)
c.790C>T (p.Gln264Ter)
c.1495+9185C>T (p.=)
5g.36985588A=CA1539582136NIPBLc.2408A= (p.Gln803=)
n.2028A=
c.1-78990A= (p.=)
c.1664A= (p.Gln555=)
c.1748A= (p.Gln583=)
c.791A= (p.Gln264=)
c.1495+9186A= (p.=)
5g.36985588A>CCA359501127NIPBLc.2408A>C (p.Gln803Pro)
n.2028A>C
c.1-78990A>C (p.=)
c.1664A>C (p.Gln555Pro)
c.1748A>C (p.Gln583Pro)
c.791A>C (p.Gln264Pro)
c.1495+9186A>C (p.=)
5g.36985588A>GCA359501125NIPBLc.2408A>G (p.Gln803Arg)
n.2028A>G
c.1-78990A>G (p.=)
c.1664A>G (p.Gln555Arg)
c.1748A>G (p.Gln583Arg)
c.791A>G (p.Gln264Arg)
c.1495+9186A>G (p.=)
5g.36985588A>TCA359501122NIPBLc.2408A>T (p.Gln803Leu)
n.2028A>T
c.1-78990A>T (p.=)
c.1664A>T (p.Gln555Leu)
c.1748A>T (p.Gln583Leu)
c.791A>T (p.Gln264Leu)
c.1495+9186A>T (p.=)
5g.36985591_36985592dupCA1539582134NIPBLc.2411_2412dup (p.Pro805AspfsTer11)
n.2031_2032dup
c.1-78987_1-78986dup (p.=)
c.1667_1668dup (p.Pro557AspfsTer11)
c.1751_1752dup (p.Pro585AspfsTer11)
c.794_795dup (p.Pro266AspfsTer11)
c.1495+9189_1495+9190dup (p.=)
dbSNP
5g.36985589G>ACA444095864NIPBLc.2409G>A (p.Gln803=)
n.2029G>A
c.1-78989G>A (p.=)
c.1665G>A (p.Gln555=)
c.1749G>A (p.Gln583=)
c.792G>A (p.Gln264=)
c.1495+9187G>A (p.=)
5g.36985589G>CCA359501129NIPBLc.2409G>C (p.Gln803His)
n.2029G>C
c.1-78989G>C (p.=)
c.1665G>C (p.Gln555His)
c.1749G>C (p.Gln583His)
c.792G>C (p.Gln264His)
c.1495+9187G>C (p.=)
5g.36985589G>TCA359501130NIPBLc.2409G>T (p.Gln803His)
n.2029G>T
c.1-78989G>T (p.=)
c.1665G>T (p.Gln555His)
c.1749G>T (p.Gln583His)
c.792G>T (p.Gln264His)
c.1495+9187G>T (p.=)
5g.36985590A>CCA444095866NIPBLc.2410A>C (p.Arg804=)
n.2030A>C
c.1-78988A>C (p.=)
c.1666A>C (p.Arg556=)
c.1750A>C (p.Arg584=)
c.793A>C (p.Arg265=)
c.1495+9188A>C (p.=)
5g.36985590A>GCA359501131NIPBLc.2410A>G (p.Arg804Gly)
n.2030A>G
c.1-78988A>G (p.=)
c.1666A>G (p.Arg556Gly)
c.1750A>G (p.Arg584Gly)
c.793A>G (p.Arg265Gly)
c.1495+9188A>G (p.=)
5g.36985590A>TCA359501133NIPBLc.2410A>T (p.Arg804Ter)
n.2030A>T
c.1-78988A>T (p.=)
c.1666A>T (p.Arg556Ter)
c.1750A>T (p.Arg584Ter)
c.793A>T (p.Arg265Ter)
c.1495+9188A>T (p.=)
5g.36985591G>ACA359501141NIPBLc.2411G>A (p.Arg804Lys)
n.2031G>A
c.1-78987G>A (p.=)
c.1667G>A (p.Arg556Lys)
c.1751G>A (p.Arg584Lys)
c.794G>A (p.Arg265Lys)
c.1495+9189G>A (p.=)
gnomAD
5g.36985591G>CCA359501142NIPBLc.2411G>C (p.Arg804Thr)
n.2031G>C
c.1-78987G>C (p.=)
c.1667G>C (p.Arg556Thr)
c.1751G>C (p.Arg584Thr)
c.794G>C (p.Arg265Thr)
c.1495+9189G>C (p.=)
5g.36985591G=CA1539582144NIPBLc.2411G= (p.Arg804=)
n.2031G=
c.1-78987G= (p.=)
c.1667G= (p.Arg556=)
c.1751G= (p.Arg584=)
c.794G= (p.Arg265=)
c.1495+9189G= (p.=)
5g.36985591G>TCA359501144NIPBLc.2411G>T (p.Arg804Ile)
n.2031G>T
c.1-78987G>T (p.=)
c.1667G>T (p.Arg556Ile)
c.1751G>T (p.Arg584Ile)
c.794G>T (p.Arg265Ile)
c.1495+9189G>T (p.=)
5g.36985592A>CCA359501146NIPBLc.2412A>C (p.Arg804Ser)
n.2032A>C
c.1-78986A>C (p.=)
c.1668A>C (p.Arg556Ser)
c.1752A>C (p.Arg584Ser)
c.795A>C (p.Arg265Ser)
c.1495+9190A>C (p.=)
5g.36985592A>GCA444095870NIPBLc.2412A>G (p.Arg804=)
n.2032A>G
c.1-78986A>G (p.=)
c.1668A>G (p.Arg556=)
c.1752A>G (p.Arg584=)
c.795A>G (p.Arg265=)
c.1495+9190A>G (p.=)
5g.36985592A>TCA359501147NIPBLc.2412A>T (p.Arg804Ser)
n.2032A>T
c.1-78986A>T (p.=)
c.1668A>T (p.Arg556Ser)
c.1752A>T (p.Arg584Ser)
c.795A>T (p.Arg265Ser)
c.1495+9190A>T (p.=)
5g.36985593C>ACA359501149NIPBLc.2413C>A (p.Pro805Thr)
n.2033C>A
c.1-78985C>A (p.=)
c.1669C>A (p.Pro557Thr)
c.1753C>A (p.Pro585Thr)
c.796C>A (p.Pro266Thr)
c.1495+9191C>A (p.=)
5g.36985593C>GCA359501150NIPBLc.2413C>G (p.Pro805Ala)
n.2033C>G
c.1-78985C>G (p.=)
c.1669C>G (p.Pro557Ala)
c.1753C>G (p.Pro585Ala)
c.796C>G (p.Pro266Ala)
c.1495+9191C>G (p.=)
5g.36985593C>TCA359501152NIPBLc.2413C>T (p.Pro805Ser)
n.2033C>T
c.1-78985C>T (p.=)
c.1669C>T (p.Pro557Ser)
c.1753C>T (p.Pro585Ser)
c.796C>T (p.Pro266Ser)
c.1495+9191C>T (p.=)

Number of alleles fetched