Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.36976294G>ACA359487052NIPBLc.1387G>A (p.Gly463Arg)
c.643G>A (p.Gly215Arg)
c.727G>A (p.Gly243Arg)
n.1007G>A
c.1-88284G>A (p.=)
gnomAD
5g.36976294G>CCA359487059NIPBLc.1387G>C (p.Gly463Arg)
c.643G>C (p.Gly215Arg)
c.727G>C (p.Gly243Arg)
n.1007G>C
c.1-88284G>C (p.=)
5g.36976294G>TCA359487056NIPBLc.1387G>T (p.Gly463Ter)
c.643G>T (p.Gly215Ter)
c.727G>T (p.Gly243Ter)
n.1007G>T
c.1-88284G>T (p.=)
5g.36976295G>ACA359487066NIPBLc.1388G>A (p.Gly463Glu)
c.644G>A (p.Gly215Glu)
c.728G>A (p.Gly243Glu)
n.1008G>A
c.1-88283G>A (p.=)
5g.36976295G>CCA359487071NIPBLc.1388G>C (p.Gly463Ala)
c.644G>C (p.Gly215Ala)
c.728G>C (p.Gly243Ala)
n.1008G>C
c.1-88283G>C (p.=)
5g.36976295G>TCA359487075NIPBLc.1388G>T (p.Gly463Val)
c.644G>T (p.Gly215Val)
c.728G>T (p.Gly243Val)
n.1008G>T
c.1-88283G>T (p.=)
5g.36976296A>CCA444095615NIPBLc.1389A>C (p.Gly463=)
c.645A>C (p.Gly215=)
c.729A>C (p.Gly243=)
n.1009A>C
c.1-88282A>C (p.=)
5g.36976296A>GCA444095617NIPBLc.1389A>G (p.Gly463=)
c.645A>G (p.Gly215=)
c.729A>G (p.Gly243=)
n.1009A>G
c.1-88282A>G (p.=)
5g.36976296A>TCA444095618NIPBLc.1389A>T (p.Gly463=)
c.645A>T (p.Gly215=)
c.729A>T (p.Gly243=)
n.1009A>T
c.1-88282A>T (p.=)
5g.36976297C>ACA359487079NIPBLc.1390C>A (p.Pro464Thr)
c.646C>A (p.Pro216Thr)
c.730C>A (p.Pro244Thr)
n.1010C>A
c.1-88281C>A (p.=)
5g.36976297C>GCA359487082NIPBLc.1390C>G (p.Pro464Ala)
c.646C>G (p.Pro216Ala)
c.730C>G (p.Pro244Ala)
n.1010C>G
c.1-88281C>G (p.=)
5g.36976297C>TCA359487088NIPBLc.1390C>T (p.Pro464Ser)
c.646C>T (p.Pro216Ser)
c.730C>T (p.Pro244Ser)
n.1010C>T
c.1-88281C>T (p.=)
5g.36976298C>ACA359487095NIPBLc.1391C>A (p.Pro464His)
c.647C>A (p.Pro216His)
c.731C>A (p.Pro244His)
n.1011C>A
c.1-88280C>A (p.=)
5g.36976298C>GCA359487098NIPBLc.1391C>G (p.Pro464Arg)
c.647C>G (p.Pro216Arg)
c.731C>G (p.Pro244Arg)
n.1011C>G
c.1-88280C>G (p.=)
5g.36976298C>TCA359487105NIPBLc.1391C>T (p.Pro464Leu)
c.647C>T (p.Pro216Leu)
c.731C>T (p.Pro244Leu)
n.1011C>T
c.1-88280C>T (p.=)
COSMIC COSMIC
5g.36976299T>ACA248257NIPBLc.1392T>A (p.Pro464=)
c.648T>A (p.Pro216=)
c.732T>A (p.Pro244=)
n.1012T>A
c.1-88279T>A (p.=)
ClinVar dbSNP ExAC gnomAD
5g.36976299T>CCA444095622NIPBLc.1392T>C (p.Pro464=)
c.648T>C (p.Pro216=)
c.732T>C (p.Pro244=)
n.1012T>C
c.1-88279T>C (p.=)
5g.36976299T>GCA444095623NIPBLc.1392T>G (p.Pro464=)
c.648T>G (p.Pro216=)
c.732T>G (p.Pro244=)
n.1012T>G
c.1-88279T>G (p.=)
5g.36976300A>CCA359487115NIPBLc.1393A>C (p.Ile465Leu)
c.649A>C (p.Ile217Leu)
c.733A>C (p.Ile245Leu)
n.1013A>C
c.1-88278A>C (p.=)
5g.36976300A>GCA359487120NIPBLc.1393A>G (p.Ile465Val)
c.649A>G (p.Ile217Val)
c.733A>G (p.Ile245Val)
n.1013A>G
c.1-88278A>G (p.=)
5g.36976300A>TCA359487122NIPBLc.1393A>T (p.Ile465Leu)
c.649A>T (p.Ile217Leu)
c.733A>T (p.Ile245Leu)
n.1013A>T
c.1-88278A>T (p.=)
5g.36976301T>ACA359487129NIPBLc.1394T>A (p.Ile465Lys)
c.650T>A (p.Ile217Lys)
c.734T>A (p.Ile245Lys)
n.1014T>A
c.1-88277T>A (p.=)
5g.36976301T>CCA359487133NIPBLc.1394T>C (p.Ile465Thr)
c.650T>C (p.Ile217Thr)
c.734T>C (p.Ile245Thr)
n.1014T>C
c.1-88277T>C (p.=)
5g.36976301T>GCA359487131NIPBLc.1394T>G (p.Ile465Arg)
c.650T>G (p.Ile217Arg)
c.734T>G (p.Ile245Arg)
n.1014T>G
c.1-88277T>G (p.=)
5g.36976302A>CCA444095626NIPBLc.1395A>C (p.Ile465=)
c.651A>C (p.Ile217=)
c.735A>C (p.Ile245=)
n.1015A>C
c.1-88276A>C (p.=)
5g.36976302A>GCA359487138NIPBLc.1395A>G (p.Ile465Met)
c.651A>G (p.Ile217Met)
c.735A>G (p.Ile245Met)
n.1015A>G
c.1-88276A>G (p.=)
5g.36976302A>TCA444095628NIPBLc.1395A>T (p.Ile465=)
c.651A>T (p.Ile217=)
c.735A>T (p.Ile245=)
n.1015A>T
c.1-88276A>T (p.=)
gnomAD
5g.36976303T>ACA359487141NIPBLc.1396T>A (p.Tyr466Asn)
c.652T>A (p.Tyr218Asn)
c.736T>A (p.Tyr246Asn)
n.1016T>A
c.1-88275T>A (p.=)
5g.36976303T>CCA359487145NIPBLc.1396T>C (p.Tyr466His)
c.652T>C (p.Tyr218His)
c.736T>C (p.Tyr246His)
n.1016T>C
c.1-88275T>C (p.=)
5g.36976303T>GCA359487149NIPBLc.1396T>G (p.Tyr466Asp)
c.652T>G (p.Tyr218Asp)
c.736T>G (p.Tyr246Asp)
n.1016T>G
c.1-88275T>G (p.=)
5g.36976304A>CCA359487152NIPBLc.1397A>C (p.Tyr466Ser)
c.653A>C (p.Tyr218Ser)
c.737A>C (p.Tyr246Ser)
n.1017A>C
c.1-88274A>C (p.=)
5g.36976304A>GCA3236022NIPBLc.1397A>G (p.Tyr466Cys)
c.653A>G (p.Tyr218Cys)
c.737A>G (p.Tyr246Cys)
n.1017A>G
c.1-88274A>G (p.=)
dbSNP ExAC gnomAD
5g.36976304A>TCA359487157NIPBLc.1397A>T (p.Tyr466Phe)
c.653A>T (p.Tyr218Phe)
c.737A>T (p.Tyr246Phe)
n.1017A>T
c.1-88274A>T (p.=)
5g.36976305T>ACA359487160NIPBLc.1398T>A (p.Tyr466Ter)
c.654T>A (p.Tyr218Ter)
c.738T>A (p.Tyr246Ter)
n.1018T>A
c.1-88273T>A (p.=)
5g.36976305T>CCA444094761NIPBLc.1398T>C (p.Tyr466=)
c.654T>C (p.Tyr218=)
c.738T>C (p.Tyr246=)
n.1018T>C
c.1-88273T>C (p.=)
5g.36976305T>GCA359487164NIPBLc.1398T>G (p.Tyr466Ter)
c.654T>G (p.Tyr218Ter)
c.738T>G (p.Tyr246Ter)
n.1018T>G
c.1-88273T>G (p.=)
5g.36976306G>ACA359487168NIPBLc.1399G>A (p.Asp467Asn)
c.655G>A (p.Asp219Asn)
c.739G>A (p.Asp247Asn)
n.1019G>A
c.1-88272G>A (p.=)
5g.36976306G>CCA359487167NIPBLc.1399G>C (p.Asp467His)
c.655G>C (p.Asp219His)
c.739G>C (p.Asp247His)
n.1019G>C
c.1-88272G>C (p.=)
5g.36976306G>TCA359487166NIPBLc.1399G>T (p.Asp467Tyr)
c.655G>T (p.Asp219Tyr)
c.739G>T (p.Asp247Tyr)
n.1019G>T
c.1-88272G>T (p.=)
5g.36976307A>CCA359487172NIPBLc.1400A>C (p.Asp467Ala)
c.656A>C (p.Asp219Ala)
c.740A>C (p.Asp247Ala)
n.1020A>C
c.1-88271A>C (p.=)
5g.36976307A>GCA359487175NIPBLc.1400A>G (p.Asp467Gly)
c.656A>G (p.Asp219Gly)
c.740A>G (p.Asp247Gly)
n.1020A>G
c.1-88271A>G (p.=)
5g.36976307A>TCA359487177NIPBLc.1400A>T (p.Asp467Val)
c.656A>T (p.Asp219Val)
c.740A>T (p.Asp247Val)
n.1020A>T
c.1-88271A>T (p.=)
5g.36976308T>ACA359487180NIPBLc.1401T>A (p.Asp467Glu)
c.657T>A (p.Asp219Glu)
c.741T>A (p.Asp247Glu)
n.1021T>A
c.1-88270T>A (p.=)
5g.36976308T>CCA444094772NIPBLc.1401T>C (p.Asp467=)
c.657T>C (p.Asp219=)
c.741T>C (p.Asp247=)
n.1021T>C
c.1-88270T>C (p.=)
5g.36976308T>GCA359487182NIPBLc.1401T>G (p.Asp467Glu)
c.657T>G (p.Asp219Glu)
c.741T>G (p.Asp247Glu)
n.1021T>G
c.1-88270T>G (p.=)
5g.36976309G>ACA359487200NIPBLc.1402G>A (p.Glu468Lys)
c.658G>A (p.Glu220Lys)
c.742G>A (p.Glu248Lys)
n.1022G>A
c.1-88269G>A (p.=)
5g.36976309G>CCA359487203NIPBLc.1402G>C (p.Glu468Gln)
c.658G>C (p.Glu220Gln)
c.742G>C (p.Glu248Gln)
n.1022G>C
c.1-88269G>C (p.=)
5g.36976309G>TCA359487207NIPBLc.1402G>T (p.Glu468Ter)
c.658G>T (p.Glu220Ter)
c.742G>T (p.Glu248Ter)
n.1022G>T
c.1-88269G>T (p.=)
5g.36976310A>CCA359487211NIPBLc.1403A>C (p.Glu468Ala)
c.659A>C (p.Glu220Ala)
c.743A>C (p.Glu248Ala)
n.1023A>C
c.1-88268A>C (p.=)
5g.36976310A>GCA359487214NIPBLc.1403A>G (p.Glu468Gly)
c.659A>G (p.Glu220Gly)
c.743A>G (p.Glu248Gly)
n.1023A>G
c.1-88268A>G (p.=)

Number of alleles fetched