Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.36985766A>CCA359502851NIPBLc.2586A>C (p.Lys862Asn)
c.1842A>C (p.Lys614Asn)
c.1926A>C (p.Lys642Asn)
c.969A>C (p.Lys323Asn)
c.1495+9364A>C (p.=)
n.2206A>C
c.1-78812A>C (p.=)
5g.36985766A>GCA444096017NIPBLc.2586A>G (p.Lys862=)
c.1842A>G (p.Lys614=)
c.1926A>G (p.Lys642=)
c.969A>G (p.Lys323=)
c.1495+9364A>G (p.=)
n.2206A>G
c.1-78812A>G (p.=)
5g.36985766A>TCA359502853NIPBLc.2586A>T (p.Lys862Asn)
c.1842A>T (p.Lys614Asn)
c.1926A>T (p.Lys642Asn)
c.969A>T (p.Lys323Asn)
c.1495+9364A>T (p.=)
n.2206A>T
c.1-78812A>T (p.=)
5g.36985767A>CCA359502857NIPBLc.2587A>C (p.Thr863Pro)
c.1843A>C (p.Thr615Pro)
c.1927A>C (p.Thr643Pro)
c.970A>C (p.Thr324Pro)
c.1495+9365A>C (p.=)
n.2207A>C
c.1-78811A>C (p.=)
5g.36985767A>GCA359502860NIPBLc.2587A>G (p.Thr863Ala)
c.1843A>G (p.Thr615Ala)
c.1927A>G (p.Thr643Ala)
c.970A>G (p.Thr324Ala)
c.1495+9365A>G (p.=)
n.2207A>G
c.1-78811A>G (p.=)
5g.36985767A>TCA359502868NIPBLc.2587A>T (p.Thr863Ser)
c.1843A>T (p.Thr615Ser)
c.1927A>T (p.Thr643Ser)
c.970A>T (p.Thr324Ser)
c.1495+9365A>T (p.=)
n.2207A>T
c.1-78811A>T (p.=)
5g.36985768C>ACA359502873NIPBLc.2588C>A (p.Thr863Asn)
c.1844C>A (p.Thr615Asn)
c.1928C>A (p.Thr643Asn)
c.971C>A (p.Thr324Asn)
c.1495+9366C>A (p.=)
n.2208C>A
c.1-78810C>A (p.=)
5g.36985768C>GCA359502878NIPBLc.2588C>G (p.Thr863Ser)
c.1844C>G (p.Thr615Ser)
c.1928C>G (p.Thr643Ser)
c.971C>G (p.Thr324Ser)
c.1495+9366C>G (p.=)
n.2208C>G
c.1-78810C>G (p.=)
5g.36985768C>TCA359502882NIPBLc.2588C>T (p.Thr863Ile)
c.1844C>T (p.Thr615Ile)
c.1928C>T (p.Thr643Ile)
c.971C>T (p.Thr324Ile)
c.1495+9366C>T (p.=)
n.2208C>T
c.1-78810C>T (p.=)
5g.36985769T>ACA444096018NIPBLc.2589T>A (p.Thr863=)
c.1845T>A (p.Thr615=)
c.1929T>A (p.Thr643=)
c.972T>A (p.Thr324=)
c.1495+9367T>A (p.=)
n.2209T>A
c.1-78809T>A (p.=)
5g.36985769T>CCA3236195NIPBLc.2589T>C (p.Thr863=)
c.1845T>C (p.Thr615=)
c.1929T>C (p.Thr643=)
c.972T>C (p.Thr324=)
c.1495+9367T>C (p.=)
n.2209T>C
c.1-78809T>C (p.=)
dbSNP ExAC gnomAD
5g.36985769T>GCA444096019NIPBLc.2589T>G (p.Thr863=)
c.1845T>G (p.Thr615=)
c.1929T>G (p.Thr643=)
c.972T>G (p.Thr324=)
c.1495+9367T>G (p.=)
n.2209T>G
c.1-78809T>G (p.=)
5g.36985770G>ACA359502896NIPBLc.2590G>A (p.Asp864Asn)
c.1846G>A (p.Asp616Asn)
c.1930G>A (p.Asp644Asn)
c.973G>A (p.Asp325Asn)
c.1495+9368G>A (p.=)
n.2210G>A
c.1-78808G>A (p.=)
5g.36985770G>CCA359502894NIPBLc.2590G>C (p.Asp864His)
c.1846G>C (p.Asp616His)
c.1930G>C (p.Asp644His)
c.973G>C (p.Asp325His)
c.1495+9368G>C (p.=)
n.2210G>C
c.1-78808G>C (p.=)
5g.36985770G>TCA359502892NIPBLc.2590G>T (p.Asp864Tyr)
c.1846G>T (p.Asp616Tyr)
c.1930G>T (p.Asp644Tyr)
c.973G>T (p.Asp325Tyr)
c.1495+9368G>T (p.=)
n.2210G>T
c.1-78808G>T (p.=)
5g.36985771A>CCA359502900NIPBLc.2591A>C (p.Asp864Ala)
c.1847A>C (p.Asp616Ala)
c.1931A>C (p.Asp644Ala)
c.974A>C (p.Asp325Ala)
c.1495+9369A>C (p.=)
n.2211A>C
c.1-78807A>C (p.=)
5g.36985771A>GCA359502909NIPBLc.2591A>G (p.Asp864Gly)
c.1847A>G (p.Asp616Gly)
c.1931A>G (p.Asp644Gly)
c.974A>G (p.Asp325Gly)
c.1495+9369A>G (p.=)
n.2211A>G
c.1-78807A>G (p.=)
5g.36985771A>TCA359502904NIPBLc.2591A>T (p.Asp864Val)
c.1847A>T (p.Asp616Val)
c.1931A>T (p.Asp644Val)
c.974A>T (p.Asp325Val)
c.1495+9369A>T (p.=)
n.2211A>T
c.1-78807A>T (p.=)
5g.36985772T>ACA172669NIPBLc.2592T>A (p.Asp864Glu)
c.1848T>A (p.Asp616Glu)
c.1932T>A (p.Asp644Glu)
c.975T>A (p.Asp325Glu)
c.1495+9370T>A (p.=)
n.2212T>A
c.1-78806T>A (p.=)
ClinVar dbSNP
5g.36985772T>CCA444096020NIPBLc.2592T>C (p.Asp864=)
c.1848T>C (p.Asp616=)
c.1932T>C (p.Asp644=)
c.975T>C (p.Asp325=)
c.1495+9370T>C (p.=)
n.2212T>C
c.1-78806T>C (p.=)
5g.36985772T>GCA359502920NIPBLc.2592T>G (p.Asp864Glu)
c.1848T>G (p.Asp616Glu)
c.1932T>G (p.Asp644Glu)
c.975T>G (p.Asp325Glu)
c.1495+9370T>G (p.=)
n.2212T>G
c.1-78806T>G (p.=)
5g.36985773A>CCA359502942NIPBLc.2593A>C (p.Lys865Gln)
c.1849A>C (p.Lys617Gln)
c.1933A>C (p.Lys645Gln)
c.976A>C (p.Lys326Gln)
c.1495+9371A>C (p.=)
n.2213A>C
c.1-78805A>C (p.=)
5g.36985773A>GCA359502948NIPBLc.2593A>G (p.Lys865Glu)
c.1849A>G (p.Lys617Glu)
c.1933A>G (p.Lys645Glu)
c.976A>G (p.Lys326Glu)
c.1495+9371A>G (p.=)
n.2213A>G
c.1-78805A>G (p.=)
5g.36985773A>TCA359502953NIPBLc.2593A>T (p.Lys865Ter)
c.1849A>T (p.Lys617Ter)
c.1933A>T (p.Lys645Ter)
c.976A>T (p.Lys326Ter)
c.1495+9371A>T (p.=)
n.2213A>T
c.1-78805A>T (p.=)
5g.36985775dupCA658657437NIPBLc.2595dup (p.Leu866ThrfsTer8)
c.1851dup (p.Leu618ThrfsTer8)
c.1935dup (p.Leu646ThrfsTer8)
c.978dup (p.Leu327ThrfsTer8)
c.1495+9373dup (p.=)
n.2215dup
c.1-78803dup (p.=)
ClinVar dbSNP
5g.36985774A>CCA359502958NIPBLc.2594A>C (p.Lys865Thr)
c.1850A>C (p.Lys617Thr)
c.1934A>C (p.Lys645Thr)
c.977A>C (p.Lys326Thr)
c.1495+9372A>C (p.=)
n.2214A>C
c.1-78804A>C (p.=)
5g.36985774A>GCA359502959NIPBLc.2594A>G (p.Lys865Arg)
c.1850A>G (p.Lys617Arg)
c.1934A>G (p.Lys645Arg)
c.977A>G (p.Lys326Arg)
c.1495+9372A>G (p.=)
n.2214A>G
c.1-78804A>G (p.=)
5g.36985774A>TCA359502961NIPBLc.2594A>T (p.Lys865Ile)
c.1850A>T (p.Lys617Ile)
c.1934A>T (p.Lys645Ile)
c.977A>T (p.Lys326Ile)
c.1495+9372A>T (p.=)
n.2214A>T
c.1-78804A>T (p.=)
5g.36985775A>CCA359502965NIPBLc.2595A>C (p.Lys865Asn)
c.1851A>C (p.Lys617Asn)
c.1935A>C (p.Lys645Asn)
c.978A>C (p.Lys326Asn)
c.1495+9373A>C (p.=)
n.2215A>C
c.1-78803A>C (p.=)
5g.36985775A>GCA444096021NIPBLc.2595A>G (p.Lys865=)
c.1851A>G (p.Lys617=)
c.1935A>G (p.Lys645=)
c.978A>G (p.Lys326=)
c.1495+9373A>G (p.=)
n.2215A>G
c.1-78803A>G (p.=)
5g.36985775A>TCA359502968NIPBLc.2595A>T (p.Lys865Asn)
c.1851A>T (p.Lys617Asn)
c.1935A>T (p.Lys645Asn)
c.978A>T (p.Lys326Asn)
c.1495+9373A>T (p.=)
n.2215A>T
c.1-78803A>T (p.=)
5g.36985776C>ACA359502981NIPBLc.2596C>A (p.Leu866Ile)
c.1852C>A (p.Leu618Ile)
c.1936C>A (p.Leu646Ile)
c.979C>A (p.Leu327Ile)
c.1495+9374C>A (p.=)
n.2216C>A
c.1-78802C>A (p.=)
5g.36985776C>GCA359502995NIPBLc.2596C>G (p.Leu866Val)
c.1852C>G (p.Leu618Val)
c.1936C>G (p.Leu646Val)
c.979C>G (p.Leu327Val)
c.1495+9374C>G (p.=)
n.2216C>G
c.1-78802C>G (p.=)
5g.36985776C>TCA444096022NIPBLc.2596C>T (p.Leu866=)
c.1852C>T (p.Leu618=)
c.1936C>T (p.Leu646=)
c.979C>T (p.Leu327=)
c.1495+9374C>T (p.=)
n.2216C>T
c.1-78802C>T (p.=)
5g.36985777T>ACA359503003NIPBLc.2597T>A (p.Leu866Gln)
c.1853T>A (p.Leu618Gln)
c.1937T>A (p.Leu646Gln)
c.980T>A (p.Leu327Gln)
c.1495+9375T>A (p.=)
n.2217T>A
c.1-78801T>A (p.=)
5g.36985777T>CCA3236196NIPBLc.2597T>C (p.Leu866Pro)
c.1853T>C (p.Leu618Pro)
c.1937T>C (p.Leu646Pro)
c.980T>C (p.Leu327Pro)
c.1495+9375T>C (p.=)
n.2217T>C
c.1-78801T>C (p.=)
dbSNP ExAC gnomAD
5g.36985777T>GCA359503017NIPBLc.2597T>G (p.Leu866Arg)
c.1853T>G (p.Leu618Arg)
c.1937T>G (p.Leu646Arg)
c.980T>G (p.Leu327Arg)
c.1495+9375T>G (p.=)
n.2217T>G
c.1-78801T>G (p.=)
5g.36985778A>CCA444096023NIPBLc.2598A>C (p.Leu866=)
c.1854A>C (p.Leu618=)
c.1938A>C (p.Leu646=)
c.981A>C (p.Leu327=)
c.1495+9376A>C (p.=)
n.2218A>C
c.1-78800A>C (p.=)
5g.36985778A>GCA3236197NIPBLc.2598A>G (p.Leu866=)
c.1854A>G (p.Leu618=)
c.1938A>G (p.Leu646=)
c.981A>G (p.Leu327=)
c.1495+9376A>G (p.=)
n.2218A>G
c.1-78800A>G (p.=)
dbSNP ExAC gnomAD COSMIC COSMIC
5g.36985778A>TCA444096024NIPBLc.2598A>T (p.Leu866=)
c.1854A>T (p.Leu618=)
c.1938A>T (p.Leu646=)
c.981A>T (p.Leu327=)
c.1495+9376A>T (p.=)
n.2218A>T
c.1-78800A>T (p.=)
5g.36985779G>ACA117044849NIPBLc.2599G>A (p.Glu867Lys)
c.1855G>A (p.Glu619Lys)
c.1939G>A (p.Glu647Lys)
c.982G>A (p.Glu328Lys)
c.1495+9377G>A (p.=)
n.2219G>A
c.1-78799G>A (p.=)
dbSNP
5g.36985779G>CCA359503044NIPBLc.2599G>C (p.Glu867Gln)
c.1855G>C (p.Glu619Gln)
c.1939G>C (p.Glu647Gln)
c.982G>C (p.Glu328Gln)
c.1495+9377G>C (p.=)
n.2219G>C
c.1-78799G>C (p.=)
5g.36985779G>TCA359503045NIPBLc.2599G>T (p.Glu867Ter)
c.1855G>T (p.Glu619Ter)
c.1939G>T (p.Glu647Ter)
c.982G>T (p.Glu328Ter)
c.1495+9377G>T (p.=)
n.2219G>T
c.1-78799G>T (p.=)
5g.36985780A>CCA359503046NIPBLc.2600A>C (p.Glu867Ala)
c.1856A>C (p.Glu619Ala)
c.1940A>C (p.Glu647Ala)
c.983A>C (p.Glu328Ala)
c.1495+9378A>C (p.=)
n.2220A>C
c.1-78798A>C (p.=)
5g.36985780A>GCA359503047NIPBLc.2600A>G (p.Glu867Gly)
c.1856A>G (p.Glu619Gly)
c.1940A>G (p.Glu647Gly)
c.983A>G (p.Glu328Gly)
c.1495+9378A>G (p.=)
n.2220A>G
c.1-78798A>G (p.=)
5g.36985780A>TCA117044877NIPBLc.2600A>T (p.Glu867Val)
c.1856A>T (p.Glu619Val)
c.1940A>T (p.Glu647Val)
c.983A>T (p.Glu328Val)
c.1495+9378A>T (p.=)
n.2220A>T
c.1-78798A>T (p.=)
dbSNP
5g.36985781A>CCA359503059NIPBLc.2601A>C (p.Glu867Asp)
c.1857A>C (p.Glu619Asp)
c.1941A>C (p.Glu647Asp)
c.984A>C (p.Glu328Asp)
c.1495+9379A>C (p.=)
n.2221A>C
c.1-78797A>C (p.=)
5g.36985781A>GCA444096025NIPBLc.2601A>G (p.Glu867=)
c.1857A>G (p.Glu619=)
c.1941A>G (p.Glu647=)
c.984A>G (p.Glu328=)
c.1495+9379A>G (p.=)
n.2221A>G
c.1-78797A>G (p.=)
5g.36985781A>TCA359503062NIPBLc.2601A>T (p.Glu867Asp)
c.1857A>T (p.Glu619Asp)
c.1941A>T (p.Glu647Asp)
c.984A>T (p.Glu328Asp)
c.1495+9379A>T (p.=)
n.2221A>T
c.1-78797A>T (p.=)
5g.36985782C>ACA444096026NIPBLc.2602C>A (p.Arg868=)
c.1858C>A (p.Arg620=)
c.1942C>A (p.Arg648=)
c.985C>A (p.Arg329=)
c.1495+9380C>A (p.=)
n.2222C>A
c.1-78796C>A (p.=)
ClinVar

Number of alleles fetched