Chr Mutation (hg38) CAid Gene Transcript Linkouts
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.=)
5g.36985869C>TCA359504045NIPBLc.2689C>T (p.Gln897Ter)
c.1945C>T (p.Gln649Ter)
c.2029C>T (p.Gln677Ter)
c.1072C>T (p.Gln358Ter)
c.1495+9467C>T (p.=)
n.2309C>T
c.1-78709C>T (p.=)
5g.36985870A>CCA359504057NIPBLc.2690A>C (p.Gln897Pro)
c.1946A>C (p.Gln649Pro)
c.2030A>C (p.Gln677Pro)
c.1073A>C (p.Gln358Pro)
c.1495+9468A>C (p.=)
n.2310A>C
c.1-78708A>C (p.=)
5g.36985870A>GCA359504054NIPBLc.2690A>G (p.Gln897Arg)
c.1946A>G (p.Gln649Arg)
c.2030A>G (p.Gln677Arg)
c.1073A>G (p.Gln358Arg)
c.1495+9468A>G (p.=)
n.2310A>G
c.1-78708A>G (p.=)
5g.36985870A>TCA359504049NIPBLc.2690A>T (p.Gln897Leu)
c.1946A>T (p.Gln649Leu)
c.2030A>T (p.Gln677Leu)
c.1073A>T (p.Gln358Leu)
c.1495+9468A>T (p.=)
n.2310A>T
c.1-78708A>T (p.=)
5g.36985871A>CCA359504065NIPBLc.2691A>C (p.Gln897His)
c.1947A>C (p.Gln649His)
c.2031A>C (p.Gln677His)
c.1074A>C (p.Gln358His)
c.1495+9469A>C (p.=)
n.2311A>C
c.1-78707A>C (p.=)
5g.36985871A>GCA3236213NIPBLc.2691A>G (p.Gln897=)
c.1947A>G (p.Gln649=)
c.2031A>G (p.Gln677=)
c.1074A>G (p.Gln358=)
c.1495+9469A>G (p.=)
n.2311A>G
c.1-78707A>G (p.=)
dbSNP ExAC gnomAD
5g.36985871A>TCA359504070NIPBLc.2691A>T (p.Gln897His)
c.1947A>T (p.Gln649His)
c.2031A>T (p.Gln677His)
c.1074A>T (p.Gln358His)
c.1495+9469A>T (p.=)
n.2311A>T
c.1-78707A>T (p.=)
5g.36985872G>ACA359504076NIPBLc.2692G>A (p.Gly898Arg)
c.1948G>A (p.Gly650Arg)
c.2032G>A (p.Gly678Arg)
c.1075G>A (p.Gly359Arg)
c.1495+9470G>A (p.=)
n.2312G>A
c.1-78706G>A (p.=)
gnomAD
5g.36985872G>CCA359504087NIPBLc.2692G>C (p.Gly898Arg)
c.1948G>C (p.Gly650Arg)
c.2032G>C (p.Gly678Arg)
c.1075G>C (p.Gly359Arg)
c.1495+9470G>C (p.=)
n.2312G>C
c.1-78706G>C (p.=)
5g.36985872G>TCA359504090NIPBLc.2692G>T (p.Gly898Ter)
c.1948G>T (p.Gly650Ter)
c.2032G>T (p.Gly678Ter)
c.1075G>T (p.Gly359Ter)
c.1495+9470G>T (p.=)
n.2312G>T
c.1-78706G>T (p.=)
5g.36985873G>ACA359504097NIPBLc.2693G>A (p.Gly898Glu)
c.1949G>A (p.Gly650Glu)
c.2033G>A (p.Gly678Glu)
c.1076G>A (p.Gly359Glu)
c.1495+9471G>A (p.=)
n.2313G>A
c.1-78705G>A (p.=)
5g.36985873G>CCA359504099NIPBLc.2693G>C (p.Gly898Ala)
c.1949G>C (p.Gly650Ala)
c.2033G>C (p.Gly678Ala)
c.1076G>C (p.Gly359Ala)
c.1495+9471G>C (p.=)
n.2313G>C
c.1-78705G>C (p.=)
5g.36985873G>TCA359504102NIPBLc.2693G>T (p.Gly898Val)
c.1949G>T (p.Gly650Val)
c.2033G>T (p.Gly678Val)
c.1076G>T (p.Gly359Val)
c.1495+9471G>T (p.=)
n.2313G>T
c.1-78705G>T (p.=)
gnomAD
5g.36985874A>CCA444096104NIPBLc.2694A>C (p.Gly898=)
c.1950A>C (p.Gly650=)
c.2034A>C (p.Gly678=)
c.1077A>C (p.Gly359=)
c.1495+9472A>C (p.=)
n.2314A>C
c.1-78704A>C (p.=)
5g.36985874A>GCA444096105NIPBLc.2694A>G (p.Gly898=)
c.1950A>G (p.Gly650=)
c.2034A>G (p.Gly678=)
c.1077A>G (p.Gly359=)
c.1495+9472A>G (p.=)
n.2314A>G
c.1-78704A>G (p.=)
gnomAD
5g.36985874A>TCA444096106NIPBLc.2694A>T (p.Gly898=)
c.1950A>T (p.Gly650=)
c.2034A>T (p.Gly678=)
c.1077A>T (p.Gly359=)
c.1495+9472A>T (p.=)
n.2314A>T
c.1-78704A>T (p.=)
5g.36985875G>ACA359504107NIPBLc.2695G>A (p.Asp899Asn)
c.1951G>A (p.Asp651Asn)
c.2035G>A (p.Asp679Asn)
c.1078G>A (p.Asp360Asn)
c.1495+9473G>A (p.=)
n.2315G>A
c.1-78703G>A (p.=)
5g.36985875G>CCA359504110NIPBLc.2695G>C (p.Asp899His)
c.1951G>C (p.Asp651His)
c.2035G>C (p.Asp679His)
c.1078G>C (p.Asp360His)
c.1495+9473G>C (p.=)
n.2315G>C
c.1-78703G>C (p.=)
5g.36985875G>TCA359504115NIPBLc.2695G>T (p.Asp899Tyr)
c.1951G>T (p.Asp651Tyr)
c.2035G>T (p.Asp679Tyr)
c.1078G>T (p.Asp360Tyr)
c.1495+9473G>T (p.=)
n.2315G>T
c.1-78703G>T (p.=)
5g.36985876A>CCA359504121NIPBLc.2696A>C (p.Asp899Ala)
c.1952A>C (p.Asp651Ala)
c.2036A>C (p.Asp679Ala)
c.1079A>C (p.Asp360Ala)
c.1495+9474A>C (p.=)
n.2316A>C
c.1-78702A>C (p.=)
5g.36985876A>GCA359504125NIPBLc.2696A>G (p.Asp899Gly)
c.1952A>G (p.Asp651Gly)
c.2036A>G (p.Asp679Gly)
c.1079A>G (p.Asp360Gly)
c.1495+9474A>G (p.=)
n.2316A>G
c.1-78702A>G (p.=)
5g.36985876A>TCA359504123NIPBLc.2696A>T (p.Asp899Val)
c.1952A>T (p.Asp651Val)
c.2036A>T (p.Asp679Val)
c.1079A>T (p.Asp360Val)
c.1495+9474A>T (p.=)
n.2316A>T
c.1-78702A>T (p.=)
5g.36985877T>ACA359504128NIPBLc.2697T>A (p.Asp899Glu)
c.1953T>A (p.Asp651Glu)
c.2037T>A (p.Asp679Glu)
c.1080T>A (p.Asp360Glu)
c.1495+9475T>A (p.=)
n.2317T>A
c.1-78701T>A (p.=)
5g.36985877T>CCA444096107NIPBLc.2697T>C (p.Asp899=)
c.1953T>C (p.Asp651=)
c.2037T>C (p.Asp679=)
c.1080T>C (p.Asp360=)
c.1495+9475T>C (p.=)
n.2317T>C
c.1-78701T>C (p.=)
5g.36985877T>GCA359504131NIPBLc.2697T>G (p.Asp899Glu)
c.1953T>G (p.Asp651Glu)
c.2037T>G (p.Asp679Glu)
c.1080T>G (p.Asp360Glu)
c.1495+9475T>G (p.=)
n.2317T>G
c.1-78701T>G (p.=)
5g.36985878T>ACA359504137NIPBLc.2698T>A (p.Ser900Thr)
c.1954T>A (p.Ser652Thr)
c.2038T>A (p.Ser680Thr)
c.1081T>A (p.Ser361Thr)
c.1495+9476T>A (p.=)
n.2318T>A
c.1-78700T>A (p.=)
5g.36985878T>CCA359504142NIPBLc.2698T>C (p.Ser900Pro)
c.1954T>C (p.Ser652Pro)
c.2038T>C (p.Ser680Pro)
c.1081T>C (p.Ser361Pro)
c.1495+9476T>C (p.=)
n.2318T>C
c.1-78700T>C (p.=)
5g.36985878T>GCA359504140NIPBLc.2698T>G (p.Ser900Ala)
c.1954T>G (p.Ser652Ala)
c.2038T>G (p.Ser680Ala)
c.1081T>G (p.Ser361Ala)
c.1495+9476T>G (p.=)
n.2318T>G
c.1-78700T>G (p.=)
5g.36985879C>ACA359504147NIPBLc.2699C>A (p.Ser900Tyr)
c.1955C>A (p.Ser652Tyr)
c.2039C>A (p.Ser680Tyr)
c.1082C>A (p.Ser361Tyr)
c.1495+9477C>A (p.=)
n.2319C>A
c.1-78699C>A (p.=)
5g.36985879C>GCA359504152NIPBLc.2699C>G (p.Ser900Cys)
c.1955C>G (p.Ser652Cys)
c.2039C>G (p.Ser680Cys)
c.1082C>G (p.Ser361Cys)
c.1495+9477C>G (p.=)
n.2319C>G
c.1-78699C>G (p.=)
5g.36985879C>TCA359504151NIPBLc.2699C>T (p.Ser900Phe)
c.1955C>T (p.Ser652Phe)
c.2039C>T (p.Ser680Phe)
c.1082C>T (p.Ser361Phe)
c.1495+9477C>T (p.=)
n.2319C>T
c.1-78699C>T (p.=)
5g.36985880T>ACA444096112NIPBLc.2700T>A (p.Ser900=)
c.1956T>A (p.Ser652=)
c.2040T>A (p.Ser680=)
c.1083T>A (p.Ser361=)
c.1495+9478T>A (p.=)
n.2320T>A
c.1-78698T>A (p.=)
5g.36985880T>CCA444096111NIPBLc.2700T>C (p.Ser900=)
c.1956T>C (p.Ser652=)
c.2040T>C (p.Ser680=)
c.1083T>C (p.Ser361=)
c.1495+9478T>C (p.=)
n.2320T>C
c.1-78698T>C (p.=)
5g.36985880T>GCA444096110NIPBLc.2700T>G (p.Ser900=)
c.1956T>G (p.Ser652=)
c.2040T>G (p.Ser680=)
c.1083T>G (p.Ser361=)
c.1495+9478T>G (p.=)
n.2320T>G
c.1-78698T>G (p.=)
5g.36985881A>CCA117044978NIPBLc.2701A>C (p.Asn901His)
c.1957A>C (p.Asn653His)
c.2041A>C (p.Asn681His)
c.1084A>C (p.Asn362His)
c.1495+9479A>C (p.=)
n.2321A>C
c.1-78697A>C (p.=)
dbSNP
5g.36985881A>GCA359504153NIPBLc.2701A>G (p.Asn901Asp)
c.1957A>G (p.Asn653Asp)
c.2041A>G (p.Asn681Asp)
c.1084A>G (p.Asn362Asp)
c.1495+9479A>G (p.=)
n.2321A>G
c.1-78697A>G (p.=)
5g.36985881A>TCA359504155NIPBLc.2701A>T (p.Asn901Tyr)
c.1957A>T (p.Asn653Tyr)
c.2041A>T (p.Asn681Tyr)
c.1084A>T (p.Asn362Tyr)
c.1495+9479A>T (p.=)
n.2321A>T
c.1-78697A>T (p.=)
5g.36985882A>CCA359504163NIPBLc.2702A>C (p.Asn901Thr)
c.1958A>C (p.Asn653Thr)
c.2042A>C (p.Asn681Thr)
c.1085A>C (p.Asn362Thr)
c.1495+9480A>C (p.=)
n.2322A>C
c.1-78696A>C (p.=)
5g.36985882A>GCA359504166NIPBLc.2702A>G (p.Asn901Ser)
c.1958A>G (p.Asn653Ser)
c.2042A>G (p.Asn681Ser)
c.1085A>G (p.Asn362Ser)
c.1495+9480A>G (p.=)
n.2322A>G
c.1-78696A>G (p.=)

Number of alleles fetched