Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.36985853C>ACA359503918NIPBLc.2673C>A (p.Asp891Glu)
c.1929C>A (p.Asp643Glu)
c.2013C>A (p.Asp671Glu)
c.1056C>A (p.Asp352Glu)
c.1495+9451C>A (p.=)
n.2293C>A
c.1-78725C>A (p.=)
5g.36985853C>GCA359503919NIPBLc.2673C>G (p.Asp891Glu)
c.1929C>G (p.Asp643Glu)
c.2013C>G (p.Asp671Glu)
c.1056C>G (p.Asp352Glu)
c.1495+9451C>G (p.=)
n.2293C>G
c.1-78725C>G (p.=)
5g.36985853C>TCA172672NIPBLc.2673C>T (p.Asp891=)
c.1929C>T (p.Asp643=)
c.2013C>T (p.Asp671=)
c.1056C>T (p.Asp352=)
c.1495+9451C>T (p.=)
n.2293C>T
c.1-78725C>T (p.=)
ClinVar dbSNP ExAC gnomAD
5g.36985854A>CCA359503927NIPBLc.2674A>C (p.Ser892Arg)
c.1930A>C (p.Ser644Arg)
c.2014A>C (p.Ser672Arg)
c.1057A>C (p.Ser353Arg)
c.1495+9452A>C (p.=)
n.2294A>C
c.1-78724A>C (p.=)
5g.36985854A>GCA359503924NIPBLc.2674A>G (p.Ser892Gly)
c.1930A>G (p.Ser644Gly)
c.2014A>G (p.Ser672Gly)
c.1057A>G (p.Ser353Gly)
c.1495+9452A>G (p.=)
n.2294A>G
c.1-78724A>G (p.=)
gnomAD
5g.36985854A>TCA359503926NIPBLc.2674A>T (p.Ser892Cys)
c.1930A>T (p.Ser644Cys)
c.2014A>T (p.Ser672Cys)
c.1057A>T (p.Ser353Cys)
c.1495+9452A>T (p.=)
n.2294A>T
c.1-78724A>T (p.=)
5g.36985855G>ACA359503928NIPBLc.2675G>A (p.Ser892Asn)
c.1931G>A (p.Ser644Asn)
c.2015G>A (p.Ser672Asn)
c.1058G>A (p.Ser353Asn)
c.1495+9453G>A (p.=)
n.2295G>A
c.1-78723G>A (p.=)
5g.36985855G>CCA359503929NIPBLc.2675G>C (p.Ser892Thr)
c.1931G>C (p.Ser644Thr)
c.2015G>C (p.Ser672Thr)
c.1058G>C (p.Ser353Thr)
c.1495+9453G>C (p.=)
n.2295G>C
c.1-78723G>C (p.=)
5g.36985855G>TCA359503930NIPBLc.2675G>T (p.Ser892Ile)
c.1931G>T (p.Ser644Ile)
c.2015G>T (p.Ser672Ile)
c.1058G>T (p.Ser353Ile)
c.1495+9453G>T (p.=)
n.2295G>T
c.1-78723G>T (p.=)
COSMIC COSMIC
5g.36985856T>ACA359503936NIPBLc.2676T>A (p.Ser892Arg)
c.1932T>A (p.Ser644Arg)
c.2016T>A (p.Ser672Arg)
c.1059T>A (p.Ser353Arg)
c.1495+9454T>A (p.=)
n.2296T>A
c.1-78722T>A (p.=)
5g.36985856T>CCA444096090NIPBLc.2676T>C (p.Ser892=)
c.1932T>C (p.Ser644=)
c.2016T>C (p.Ser672=)
c.1059T>C (p.Ser353=)
c.1495+9454T>C (p.=)
n.2296T>C
c.1-78722T>C (p.=)
5g.36985856T>GCA359503938NIPBLc.2676T>G (p.Ser892Arg)
c.1932T>G (p.Ser644Arg)
c.2016T>G (p.Ser672Arg)
c.1059T>G (p.Ser353Arg)
c.1495+9454T>G (p.=)
n.2296T>G
c.1-78722T>G (p.=)
5g.36985857C>ACA359503951NIPBLc.2677C>A (p.Pro893Thr)
c.1933C>A (p.Pro645Thr)
c.2017C>A (p.Pro673Thr)
c.1060C>A (p.Pro354Thr)
c.1495+9455C>A (p.=)
n.2297C>A
c.1-78721C>A (p.=)
5g.36985857C>GCA359503945NIPBLc.2677C>G (p.Pro893Ala)
c.1933C>G (p.Pro645Ala)
c.2017C>G (p.Pro673Ala)
c.1060C>G (p.Pro354Ala)
c.1495+9455C>G (p.=)
n.2297C>G
c.1-78721C>G (p.=)
5g.36985857C>TCA359503949NIPBLc.2677C>T (p.Pro893Ser)
c.1933C>T (p.Pro645Ser)
c.2017C>T (p.Pro673Ser)
c.1060C>T (p.Pro354Ser)
c.1495+9455C>T (p.=)
n.2297C>T
c.1-78721C>T (p.=)
5g.36985858C>ACA359503958NIPBLc.2678C>A (p.Pro893His)
c.1934C>A (p.Pro645His)
c.2018C>A (p.Pro673His)
c.1061C>A (p.Pro354His)
c.1495+9456C>A (p.=)
n.2298C>A
c.1-78720C>A (p.=)
5g.36985858C>GCA359503960NIPBLc.2678C>G (p.Pro893Arg)
c.1934C>G (p.Pro645Arg)
c.2018C>G (p.Pro673Arg)
c.1061C>G (p.Pro354Arg)
c.1495+9456C>G (p.=)
n.2298C>G
c.1-78720C>G (p.=)
5g.36985858C>TCA359503962NIPBLc.2678C>T (p.Pro893Leu)
c.1934C>T (p.Pro645Leu)
c.2018C>T (p.Pro673Leu)
c.1061C>T (p.Pro354Leu)
c.1495+9456C>T (p.=)
n.2298C>T
c.1-78720C>T (p.=)
5g.36985859T>ACA444096092NIPBLc.2679T>A (p.Pro893=)
c.1935T>A (p.Pro645=)
c.2019T>A (p.Pro673=)
c.1062T>A (p.Pro354=)
c.1495+9457T>A (p.=)
n.2299T>A
c.1-78719T>A (p.=)
5g.36985859T>CCA444096093NIPBLc.2679T>C (p.Pro893=)
c.1935T>C (p.Pro645=)
c.2019T>C (p.Pro673=)
c.1062T>C (p.Pro354=)
c.1495+9457T>C (p.=)
n.2299T>C
c.1-78719T>C (p.=)
5g.36985859T>GCA444096094NIPBLc.2679T>G (p.Pro893=)
c.1935T>G (p.Pro645=)
c.2019T>G (p.Pro673=)
c.1062T>G (p.Pro354=)
c.1495+9457T>G (p.=)
n.2299T>G
c.1-78719T>G (p.=)
5g.36985860C>ACA359503966NIPBLc.2680C>A (p.Arg894Ser)
c.1936C>A (p.Arg646Ser)
c.2020C>A (p.Arg674Ser)
c.1063C>A (p.Arg355Ser)
c.1495+9458C>A (p.=)
n.2300C>A
c.1-78718C>A (p.=)
5g.36985860C>GCA359503969NIPBLc.2680C>G (p.Arg894Gly)
c.1936C>G (p.Arg646Gly)
c.2020C>G (p.Arg674Gly)
c.1063C>G (p.Arg355Gly)
c.1495+9458C>G (p.=)
n.2300C>G
c.1-78718C>G (p.=)
5g.36985860C>TCA3236210NIPBLc.2680C>T (p.Arg894Cys)
c.1936C>T (p.Arg646Cys)
c.2020C>T (p.Arg674Cys)
c.1063C>T (p.Arg355Cys)
c.1495+9458C>T (p.=)
n.2300C>T
c.1-78718C>T (p.=)
dbSNP ExAC gnomAD
5g.36985861G>ACA3236211NIPBLc.2681G>A (p.Arg894His)
c.1937G>A (p.Arg646His)
c.2021G>A (p.Arg674His)
c.1064G>A (p.Arg355His)
c.1495+9459G>A (p.=)
n.2301G>A
c.1-78717G>A (p.=)
dbSNP ExAC gnomAD COSMIC COSMIC
5g.36985861G>CCA359503979NIPBLc.2681G>C (p.Arg894Pro)
c.1937G>C (p.Arg646Pro)
c.2021G>C (p.Arg674Pro)
c.1064G>C (p.Arg355Pro)
c.1495+9459G>C (p.=)
n.2301G>C
c.1-78717G>C (p.=)
gnomAD
5g.36985861G>TCA359503981NIPBLc.2681G>T (p.Arg894Leu)
c.1937G>T (p.Arg646Leu)
c.2021G>T (p.Arg674Leu)
c.1064G>T (p.Arg355Leu)
c.1495+9459G>T (p.=)
n.2301G>T
c.1-78717G>T (p.=)
gnomAD
5g.36985862T>ACA444096095NIPBLc.2682T>A (p.Arg894=)
c.1938T>A (p.Arg646=)
c.2022T>A (p.Arg674=)
c.1065T>A (p.Arg355=)
c.1495+9460T>A (p.=)
n.2302T>A
c.1-78716T>A (p.=)
5g.36985862T>CCA3236212NIPBLc.2682T>C (p.Arg894=)
c.1938T>C (p.Arg646=)
c.2022T>C (p.Arg674=)
c.1065T>C (p.Arg355=)
c.1495+9460T>C (p.=)
n.2302T>C
c.1-78716T>C (p.=)
dbSNP ExAC gnomAD
5g.36985862T>GCA444096096NIPBLc.2682T>G (p.Arg894=)
c.1938T>G (p.Arg646=)
c.2022T>G (p.Arg674=)
c.1065T>G (p.Arg355=)
c.1495+9460T>G (p.=)
n.2302T>G
c.1-78716T>G (p.=)
5g.36985863G>ACA359503992NIPBLc.2683G>A (p.Val895Ile)
c.1939G>A (p.Val647Ile)
c.2023G>A (p.Val675Ile)
c.1066G>A (p.Val356Ile)
c.1495+9461G>A (p.=)
n.2303G>A
c.1-78715G>A (p.=)
5g.36985863G>CCA359503993NIPBLc.2683G>C (p.Val895Leu)
c.1939G>C (p.Val647Leu)
c.2023G>C (p.Val675Leu)
c.1066G>C (p.Val356Leu)
c.1495+9461G>C (p.=)
n.2303G>C
c.1-78715G>C (p.=)
5g.36985863G>TCA359503997NIPBLc.2683G>T (p.Val895Phe)
c.1939G>T (p.Val647Phe)
c.2023G>T (p.Val675Phe)
c.1066G>T (p.Val356Phe)
c.1495+9461G>T (p.=)
n.2303G>T
c.1-78715G>T (p.=)
5g.36985864T>ACA359504004NIPBLc.2684T>A (p.Val895Asp)
c.1940T>A (p.Val647Asp)
c.2024T>A (p.Val675Asp)
c.1067T>A (p.Val356Asp)
c.1495+9462T>A (p.=)
n.2304T>A
c.1-78714T>A (p.=)
5g.36985864T>CCA359504008NIPBLc.2684T>C (p.Val895Ala)
c.1940T>C (p.Val647Ala)
c.2024T>C (p.Val675Ala)
c.1067T>C (p.Val356Ala)
c.1495+9462T>C (p.=)
n.2304T>C
c.1-78714T>C (p.=)
5g.36985864T>GCA359504005NIPBLc.2684T>G (p.Val895Gly)
c.1940T>G (p.Val647Gly)
c.2024T>G (p.Val675Gly)
c.1067T>G (p.Val356Gly)
c.1495+9462T>G (p.=)
n.2304T>G
c.1-78714T>G (p.=)
5g.36985865T>ACA444096098NIPBLc.2685T>A (p.Val895=)
c.1941T>A (p.Val647=)
c.2025T>A (p.Val675=)
c.1068T>A (p.Val356=)
c.1495+9463T>A (p.=)
n.2305T>A
c.1-78713T>A (p.=)
5g.36985865T>CCA444096099NIPBLc.2685T>C (p.Val895=)
c.1941T>C (p.Val647=)
c.2025T>C (p.Val675=)
c.1068T>C (p.Val356=)
c.1495+9463T>C (p.=)
n.2305T>C
c.1-78713T>C (p.=)
5g.36985865T>GCA444096100NIPBLc.2685T>G (p.Val895=)
c.1941T>G (p.Val647=)
c.2025T>G (p.Val675=)
c.1068T>G (p.Val356=)
c.1495+9463T>G (p.=)
n.2305T>G
c.1-78713T>G (p.=)
5g.36985866A>CCA359504015NIPBLc.2686A>C (p.Lys896Gln)
c.1942A>C (p.Lys648Gln)
c.2026A>C (p.Lys676Gln)
c.1069A>C (p.Lys357Gln)
c.1495+9464A>C (p.=)
n.2306A>C
c.1-78712A>C (p.=)
5g.36985866A>GCA359504020NIPBLc.2686A>G (p.Lys896Glu)
c.1942A>G (p.Lys648Glu)
c.2026A>G (p.Lys676Glu)
c.1069A>G (p.Lys357Glu)
c.1495+9464A>G (p.=)
n.2306A>G
c.1-78712A>G (p.=)
5g.36985866A>TCA359504022NIPBLc.2686A>T (p.Lys896Ter)
c.1942A>T (p.Lys648Ter)
c.2026A>T (p.Lys676Ter)
c.1069A>T (p.Lys357Ter)
c.1495+9464A>T (p.=)
n.2306A>T
c.1-78712A>T (p.=)
5g.36985867A>CCA359504029NIPBLc.2687A>C (p.Lys896Thr)
c.1943A>C (p.Lys648Thr)
c.2027A>C (p.Lys676Thr)
c.1070A>C (p.Lys357Thr)
c.1495+9465A>C (p.=)
n.2307A>C
c.1-78711A>C (p.=)
5g.36985867A>GCA359504030NIPBLc.2687A>G (p.Lys896Arg)
c.1943A>G (p.Lys648Arg)
c.2027A>G (p.Lys676Arg)
c.1070A>G (p.Lys357Arg)
c.1495+9465A>G (p.=)
n.2307A>G
c.1-78711A>G (p.=)
5g.36985867A>TCA359504031NIPBLc.2687A>T (p.Lys896Ile)
c.1943A>T (p.Lys648Ile)
c.2027A>T (p.Lys676Ile)
c.1070A>T (p.Lys357Ile)
c.1495+9465A>T (p.=)
n.2307A>T
c.1-78711A>T (p.=)
5g.36985868A>CCA359504032NIPBLc.2688A>C (p.Lys896Asn)
c.1944A>C (p.Lys648Asn)
c.2028A>C (p.Lys676Asn)
c.1071A>C (p.Lys357Asn)
c.1495+9466A>C (p.=)
n.2308A>C
c.1-78710A>C (p.=)
5g.36985868A>GCA444096101NIPBLc.2688A>G (p.Lys896=)
c.1944A>G (p.Lys648=)
c.2028A>G (p.Lys676=)
c.1071A>G (p.Lys357=)
c.1495+9466A>G (p.=)
n.2308A>G
c.1-78710A>G (p.=)
5g.36985868A>TCA359504036NIPBLc.2688A>T (p.Lys896Asn)
c.1944A>T (p.Lys648Asn)
c.2028A>T (p.Lys676Asn)
c.1071A>T (p.Lys357Asn)
c.1495+9466A>T (p.=)
n.2308A>T
c.1-78710A>T (p.=)
5g.36985869C>ACA359504040NIPBLc.2689C>A (p.Gln897Lys)
c.1945C>A (p.Gln649Lys)
c.2029C>A (p.Gln677Lys)
c.1072C>A (p.Gln358Lys)
c.1495+9467C>A (p.=)
n.2309C>A
c.1-78709C>A (p.=)
gnomAD
5g.36985869C>GCA359504042NIPBLc.2689C>G (p.Gln897Glu)
c.1945C>G (p.Gln649Glu)
c.2029C>G (p.Gln677Glu)
c.1072C>G (p.Gln358Glu)
c.1495+9467C>G (p.=)
n.2309C>G
c.1-78709C>G (p.=)

Number of alleles fetched