Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.36985680C>ACA444095961NIPBLc.2500C>A (p.Arg834=)
n.2120C>A
c.1-78898C>A (p.=)
c.1756C>A (p.Arg586=)
c.1840C>A (p.Arg614=)
c.883C>A (p.Arg295=)
c.1495+9278C>A (p.=)
5g.36985680C=CA1539582371NIPBLc.2500C= (p.Arg834=)
n.2120C=
c.1-78898C= (p.=)
c.1756C= (p.Arg586=)
c.1840C= (p.Arg614=)
c.883C= (p.Arg295=)
c.1495+9278C= (p.=)
5g.36985680C>GCA359501819NIPBLc.2500C>G (p.Arg834Gly)
n.2120C>G
c.1-78898C>G (p.=)
c.1756C>G (p.Arg586Gly)
c.1840C>G (p.Arg614Gly)
c.883C>G (p.Arg295Gly)
c.1495+9278C>G (p.=)
5g.36985680C>TCA272024NIPBLc.2500C>T (p.Arg834Ter)
n.2120C>T
c.1-78898C>T (p.=)
c.1756C>T (p.Arg586Ter)
c.1840C>T (p.Arg614Ter)
c.883C>T (p.Arg295Ter)
c.1495+9278C>T (p.=)
ClinVar dbSNP COSMIC COSMIC
5g.36985681G>ACA3236182NIPBLc.2501G>A (p.Arg834Gln)
n.2121G>A
c.1-78897G>A (p.=)
c.1757G>A (p.Arg586Gln)
c.1841G>A (p.Arg614Gln)
c.884G>A (p.Arg295Gln)
c.1495+9279G>A (p.=)
ClinVar dbSNP ExAC gnomAD
5g.36985681G>CCA359501828NIPBLc.2501G>C (p.Arg834Pro)
n.2121G>C
c.1-78897G>C (p.=)
c.1757G>C (p.Arg586Pro)
c.1841G>C (p.Arg614Pro)
c.884G>C (p.Arg295Pro)
c.1495+9279G>C (p.=)
5g.36985681G=CA1539582375NIPBLc.2501G= (p.Arg834=)
n.2121G=
c.1-78897G= (p.=)
c.1757G= (p.Arg586=)
c.1841G= (p.Arg614=)
c.884G= (p.Arg295=)
c.1495+9279G= (p.=)
5g.36985681G>TCA3236183NIPBLc.2501G>T (p.Arg834Leu)
n.2121G>T
c.1-78897G>T (p.=)
c.1757G>T (p.Arg586Leu)
c.1841G>T (p.Arg614Leu)
c.884G>T (p.Arg295Leu)
c.1495+9279G>T (p.=)
dbSNP ExAC gnomAD
5g.36985682A>CCA444095962NIPBLc.2502A>C (p.Arg834=)
n.2122A>C
c.1-78896A>C (p.=)
c.1758A>C (p.Arg586=)
c.1842A>C (p.Arg614=)
c.885A>C (p.Arg295=)
c.1495+9280A>C (p.=)
5g.36985682A>GCA444095963NIPBLc.2502A>G (p.Arg834=)
n.2122A>G
c.1-78896A>G (p.=)
c.1758A>G (p.Arg586=)
c.1842A>G (p.Arg614=)
c.885A>G (p.Arg295=)
c.1495+9280A>G (p.=)
5g.36985682A>TCA444095964NIPBLc.2502A>T (p.Arg834=)
n.2122A>T
c.1-78896A>T (p.=)
c.1758A>T (p.Arg586=)
c.1842A>T (p.Arg614=)
c.885A>T (p.Arg295=)
c.1495+9280A>T (p.=)
5g.36985683G>ACA359501838NIPBLc.2503G>A (p.Gly835Arg)
n.2123G>A
c.1-78895G>A (p.=)
c.1759G>A (p.Gly587Arg)
c.1843G>A (p.Gly615Arg)
c.886G>A (p.Gly296Arg)
c.1495+9281G>A (p.=)
5g.36985683G>CCA359501836NIPBLc.2503G>C (p.Gly835Arg)
n.2123G>C
c.1-78895G>C (p.=)
c.1759G>C (p.Gly587Arg)
c.1843G>C (p.Gly615Arg)
c.886G>C (p.Gly296Arg)
c.1495+9281G>C (p.=)
5g.36985683G=CA1539582377NIPBLc.2503G= (p.Gly835=)
n.2123G=
c.1-78895G= (p.=)
c.1759G= (p.Gly587=)
c.1843G= (p.Gly615=)
c.886G= (p.Gly296=)
c.1495+9281G= (p.=)
5g.36985683G>TCA359501837NIPBLc.2503G>T (p.Gly835Trp)
n.2123G>T
c.1-78895G>T (p.=)
c.1759G>T (p.Gly587Trp)
c.1843G>T (p.Gly615Trp)
c.886G>T (p.Gly296Trp)
c.1495+9281G>T (p.=)
5g.36985684G>ACA359501840NIPBLc.2504G>A (p.Gly835Glu)
n.2124G>A
c.1-78894G>A (p.=)
c.1760G>A (p.Gly587Glu)
c.1844G>A (p.Gly615Glu)
c.887G>A (p.Gly296Glu)
c.1495+9282G>A (p.=)
5g.36985684G>CCA359501844NIPBLc.2504G>C (p.Gly835Ala)
n.2124G>C
c.1-78894G>C (p.=)
c.1760G>C (p.Gly587Ala)
c.1844G>C (p.Gly615Ala)
c.887G>C (p.Gly296Ala)
c.1495+9282G>C (p.=)
5g.36985684G>TCA359501848NIPBLc.2504G>T (p.Gly835Val)
n.2124G>T
c.1-78894G>T (p.=)
c.1760G>T (p.Gly587Val)
c.1844G>T (p.Gly615Val)
c.887G>T (p.Gly296Val)
c.1495+9282G>T (p.=)
5g.36985685G>ACA444095965NIPBLc.2505G>A (p.Gly835=)
n.2125G>A
c.1-78893G>A (p.=)
c.1761G>A (p.Gly587=)
c.1845G>A (p.Gly615=)
c.888G>A (p.Gly296=)
c.1495+9283G>A (p.=)
5g.36985685G>CCA444095966NIPBLc.2505G>C (p.Gly835=)
n.2125G>C
c.1-78893G>C (p.=)
c.1761G>C (p.Gly587=)
c.1845G>C (p.Gly615=)
c.888G>C (p.Gly296=)
c.1495+9283G>C (p.=)
5g.36985685G=CA1539582380NIPBLc.2505G= (p.Gly835=)
n.2125G=
c.1-78893G= (p.=)
c.1761G= (p.Gly587=)
c.1845G= (p.Gly615=)
c.888G= (p.Gly296=)
c.1495+9283G= (p.=)
5g.36985685G>TCA272027NIPBLc.2505G>T (p.Gly835=)
n.2125G>T
c.1-78893G>T (p.=)
c.1761G>T (p.Gly587=)
c.1845G>T (p.Gly615=)
c.888G>T (p.Gly296=)
c.1495+9283G>T (p.=)
ClinVar dbSNP
5g.36985686G>ACA359501855NIPBLc.2506G>A (p.Asp836Asn)
n.2126G>A
c.1-78892G>A (p.=)
c.1762G>A (p.Asp588Asn)
c.1846G>A (p.Asp616Asn)
c.889G>A (p.Asp297Asn)
c.1495+9284G>A (p.=)
5g.36985686G>CCA359501856NIPBLc.2506G>C (p.Asp836His)
n.2126G>C
c.1-78892G>C (p.=)
c.1762G>C (p.Asp588His)
c.1846G>C (p.Asp616His)
c.889G>C (p.Asp297His)
c.1495+9284G>C (p.=)
5g.36985686G>TCA359501857NIPBLc.2506G>T (p.Asp836Tyr)
n.2126G>T
c.1-78892G>T (p.=)
c.1762G>T (p.Asp588Tyr)
c.1846G>T (p.Asp616Tyr)
c.889G>T (p.Asp297Tyr)
c.1495+9284G>T (p.=)
5g.36985687A>CCA359501859NIPBLc.2507A>C (p.Asp836Ala)
n.2127A>C
c.1-78891A>C (p.=)
c.1763A>C (p.Asp588Ala)
c.1847A>C (p.Asp616Ala)
c.890A>C (p.Asp297Ala)
c.1495+9285A>C (p.=)
5g.36985687A>GCA359501862NIPBLc.2507A>G (p.Asp836Gly)
n.2127A>G
c.1-78891A>G (p.=)
c.1763A>G (p.Asp588Gly)
c.1847A>G (p.Asp616Gly)
c.890A>G (p.Asp297Gly)
c.1495+9285A>G (p.=)
5g.36985687A>TCA359501869NIPBLc.2507A>T (p.Asp836Val)
n.2127A>T
c.1-78891A>T (p.=)
c.1763A>T (p.Asp588Val)
c.1847A>T (p.Asp616Val)
c.890A>T (p.Asp297Val)
c.1495+9285A>T (p.=)
5g.36985688T>ACA359501872NIPBLc.2508T>A (p.Asp836Glu)
n.2128T>A
c.1-78890T>A (p.=)
c.1764T>A (p.Asp588Glu)
c.1848T>A (p.Asp616Glu)
c.891T>A (p.Asp297Glu)
c.1495+9286T>A (p.=)
5g.36985688T>CCA444095967NIPBLc.2508T>C (p.Asp836=)
n.2128T>C
c.1-78890T>C (p.=)
c.1764T>C (p.Asp588=)
c.1848T>C (p.Asp616=)
c.891T>C (p.Asp297=)
c.1495+9286T>C (p.=)
5g.36985688T>GCA359501875NIPBLc.2508T>G (p.Asp836Glu)
n.2128T>G
c.1-78890T>G (p.=)
c.1764T>G (p.Asp588Glu)
c.1848T>G (p.Asp616Glu)
c.891T>G (p.Asp297Glu)
c.1495+9286T>G (p.=)
5g.36985689C>ACA359501881NIPBLc.2509C>A (p.Gln837Lys)
n.2129C>A
c.1-78889C>A (p.=)
c.1765C>A (p.Gln589Lys)
c.1849C>A (p.Gln617Lys)
c.892C>A (p.Gln298Lys)
c.1495+9287C>A (p.=)
5g.36985689C>GCA359501890NIPBLc.2509C>G (p.Gln837Glu)
n.2129C>G
c.1-78889C>G (p.=)
c.1765C>G (p.Gln589Glu)
c.1849C>G (p.Gln617Glu)
c.892C>G (p.Gln298Glu)
c.1495+9287C>G (p.=)
5g.36985689C>TCA359501887NIPBLc.2509C>T (p.Gln837Ter)
n.2129C>T
c.1-78889C>T (p.=)
c.1765C>T (p.Gln589Ter)
c.1849C>T (p.Gln617Ter)
c.892C>T (p.Gln298Ter)
c.1495+9287C>T (p.=)
5g.36985690A=CA1539582383NIPBLc.2510A= (p.Gln837=)
n.2130A=
c.1-78888A= (p.=)
c.1766A= (p.Gln589=)
c.1850A= (p.Gln617=)
c.893A= (p.Gln298=)
c.1495+9288A= (p.=)
5g.36985690A>CCA359501893NIPBLc.2510A>C (p.Gln837Pro)
n.2130A>C
c.1-78888A>C (p.=)
c.1766A>C (p.Gln589Pro)
c.1850A>C (p.Gln617Pro)
c.893A>C (p.Gln298Pro)
c.1495+9288A>C (p.=)
5g.36985690A>GCA359501919NIPBLc.2510A>G (p.Gln837Arg)
n.2130A>G
c.1-78888A>G (p.=)
c.1766A>G (p.Gln589Arg)
c.1850A>G (p.Gln617Arg)
c.893A>G (p.Gln298Arg)
c.1495+9288A>G (p.=)
5g.36985690A>TCA359501899NIPBLc.2510A>T (p.Gln837Leu)
n.2130A>T
c.1-78888A>T (p.=)
c.1766A>T (p.Gln589Leu)
c.1850A>T (p.Gln617Leu)
c.893A>T (p.Gln298Leu)
c.1495+9288A>T (p.=)
5g.36985691G>ACA444095968NIPBLc.2511G>A (p.Gln837=)
n.2131G>A
c.1-78887G>A (p.=)
c.1767G>A (p.Gln589=)
c.1851G>A (p.Gln617=)
c.894G>A (p.Gln298=)
c.1495+9289G>A (p.=)
5g.36985691G>CCA117044760NIPBLc.2511G>C (p.Gln837His)
n.2131G>C
c.1-78887G>C (p.=)
c.1767G>C (p.Gln589His)
c.1851G>C (p.Gln617His)
c.894G>C (p.Gln298His)
c.1495+9289G>C (p.=)
ClinVar dbSNP
5g.36985691G=CA1539582385NIPBLc.2511G= (p.Gln837=)
n.2131G=
c.1-78887G= (p.=)
c.1767G= (p.Gln589=)
c.1851G= (p.Gln617=)
c.894G= (p.Gln298=)
c.1495+9289G= (p.=)
5g.36985691G>TCA359501924NIPBLc.2511G>T (p.Gln837His)
n.2131G>T
c.1-78887G>T (p.=)
c.1767G>T (p.Gln589His)
c.1851G>T (p.Gln617His)
c.894G>T (p.Gln298His)
c.1495+9289G>T (p.=)
5g.36985692T>ACA359501925NIPBLc.2512T>A (p.Ser838Thr)
n.2132T>A
c.1-78886T>A (p.=)
c.1768T>A (p.Ser590Thr)
c.1852T>A (p.Ser618Thr)
c.895T>A (p.Ser299Thr)
c.1495+9290T>A (p.=)
5g.36985692T>CCA359501926NIPBLc.2512T>C (p.Ser838Pro)
n.2132T>C
c.1-78886T>C (p.=)
c.1768T>C (p.Ser590Pro)
c.1852T>C (p.Ser618Pro)
c.895T>C (p.Ser299Pro)
c.1495+9290T>C (p.=)
gnomAD
5g.36985692T>GCA359501939NIPBLc.2512T>G (p.Ser838Ala)
n.2132T>G
c.1-78886T>G (p.=)
c.1768T>G (p.Ser590Ala)
c.1852T>G (p.Ser618Ala)
c.895T>G (p.Ser299Ala)
c.1495+9290T>G (p.=)
5g.36985692T=CA1539582393NIPBLc.2512T= (p.Ser838=)
n.2132T=
c.1-78886T= (p.=)
c.1768T= (p.Ser590=)
c.1852T= (p.Ser618=)
c.895T= (p.Ser299=)
c.1495+9290T= (p.=)
5g.36985693C>ACA359501945NIPBLc.2513C>A (p.Ser838Tyr)
n.2133C>A
c.1-78885C>A (p.=)
c.1769C>A (p.Ser590Tyr)
c.1853C>A (p.Ser618Tyr)
c.896C>A (p.Ser299Tyr)
c.1495+9291C>A (p.=)
5g.36985693C=CA1539582399NIPBLc.2513C= (p.Ser838=)
n.2133C=
c.1-78885C= (p.=)
c.1769C= (p.Ser590=)
c.1853C= (p.Ser618=)
c.896C= (p.Ser299=)
c.1495+9291C= (p.=)
5g.36985693C>GCA359501952NIPBLc.2513C>G (p.Ser838Cys)
n.2133C>G
c.1-78885C>G (p.=)
c.1769C>G (p.Ser590Cys)
c.1853C>G (p.Ser618Cys)
c.896C>G (p.Ser299Cys)
c.1495+9291C>G (p.=)
5g.36985693C>TCA359501973NIPBLc.2513C>T (p.Ser838Phe)
n.2133C>T
c.1-78885C>T (p.=)
c.1769C>T (p.Ser590Phe)
c.1853C>T (p.Ser618Phe)
c.896C>T (p.Ser299Phe)
c.1495+9291C>T (p.=)

Number of alleles fetched