Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.36976194T>ACA444095478NIPBLc.1287T>A (p.Leu429=)
c.543T>A (p.Leu181=)
c.627T>A (p.Leu209=)
n.907T>A
c.1-88384T>A (p.=)
5g.36976194T>CCA444095479NIPBLc.1287T>C (p.Leu429=)
c.543T>C (p.Leu181=)
c.627T>C (p.Leu209=)
n.907T>C
c.1-88384T>C (p.=)
5g.36976194T>GCA444095477NIPBLc.1287T>G (p.Leu429=)
c.543T>G (p.Leu181=)
c.627T>G (p.Leu209=)
n.907T>G
c.1-88384T>G (p.=)
5g.36976195C>ACA359486310NIPBLc.1288C>A (p.Pro430Thr)
c.544C>A (p.Pro182Thr)
c.628C>A (p.Pro210Thr)
n.908C>A
c.1-88383C>A (p.=)
5g.36976195C>GCA359486313NIPBLc.1288C>G (p.Pro430Ala)
c.544C>G (p.Pro182Ala)
c.628C>G (p.Pro210Ala)
n.908C>G
c.1-88383C>G (p.=)
5g.36976195C>TCA359486324NIPBLc.1288C>T (p.Pro430Ser)
c.544C>T (p.Pro182Ser)
c.628C>T (p.Pro210Ser)
n.908C>T
c.1-88383C>T (p.=)
5g.36976196C>ACA359486327NIPBLc.1289C>A (p.Pro430Gln)
c.545C>A (p.Pro182Gln)
c.629C>A (p.Pro210Gln)
n.909C>A
c.1-88382C>A (p.=)
5g.36976196C>GCA359486331NIPBLc.1289C>G (p.Pro430Arg)
c.545C>G (p.Pro182Arg)
c.629C>G (p.Pro210Arg)
n.909C>G
c.1-88382C>G (p.=)
5g.36976196C>TCA359486335NIPBLc.1289C>T (p.Pro430Leu)
c.545C>T (p.Pro182Leu)
c.629C>T (p.Pro210Leu)
n.909C>T
c.1-88382C>T (p.=)
5g.36976197A>CCA444095481NIPBLc.1290A>C (p.Pro430=)
c.546A>C (p.Pro182=)
c.630A>C (p.Pro210=)
n.910A>C
c.1-88381A>C (p.=)
5g.36976197A>GCA3236009NIPBLc.1290A>G (p.Pro430=)
c.546A>G (p.Pro182=)
c.630A>G (p.Pro210=)
n.910A>G
c.1-88381A>G (p.=)
dbSNP ExAC
5g.36976197A>TCA444095483NIPBLc.1290A>T (p.Pro430=)
c.546A>T (p.Pro182=)
c.630A>T (p.Pro210=)
n.910A>T
c.1-88381A>T (p.=)
COSMIC COSMIC
5g.36976198G>ACA359486345NIPBLc.1291G>A (p.Ala431Thr)
c.547G>A (p.Ala183Thr)
c.631G>A (p.Ala211Thr)
n.911G>A
c.1-88380G>A (p.=)
5g.36976198G>CCA359486350NIPBLc.1291G>C (p.Ala431Pro)
c.547G>C (p.Ala183Pro)
c.631G>C (p.Ala211Pro)
n.911G>C
c.1-88380G>C (p.=)
5g.36976198G>TCA359486342NIPBLc.1291G>T (p.Ala431Ser)
c.547G>T (p.Ala183Ser)
c.631G>T (p.Ala211Ser)
n.911G>T
c.1-88380G>T (p.=)
5g.36976199C>ACA359486364NIPBLc.1292C>A (p.Ala431Glu)
c.548C>A (p.Ala183Glu)
c.632C>A (p.Ala211Glu)
n.912C>A
c.1-88379C>A (p.=)
5g.36976199C>GCA359486366NIPBLc.1292C>G (p.Ala431Gly)
c.548C>G (p.Ala183Gly)
c.632C>G (p.Ala211Gly)
n.912C>G
c.1-88379C>G (p.=)
5g.36976199C>TCA359486370NIPBLc.1292C>T (p.Ala431Val)
c.548C>T (p.Ala183Val)
c.632C>T (p.Ala211Val)
n.912C>T
c.1-88379C>T (p.=)
5g.36976200A>CCA444095486NIPBLc.1293A>C (p.Ala431=)
c.549A>C (p.Ala183=)
c.633A>C (p.Ala211=)
n.913A>C
c.1-88378A>C (p.=)
5g.36976200A>GCA3236010NIPBLc.1293A>G (p.Ala431=)
c.549A>G (p.Ala183=)
c.633A>G (p.Ala211=)
n.913A>G
c.1-88378A>G (p.=)
dbSNP ExAC gnomAD
5g.36976200A>TCA444095490NIPBLc.1293A>T (p.Ala431=)
c.549A>T (p.Ala183=)
c.633A>T (p.Ala211=)
n.913A>T
c.1-88378A>T (p.=)
5g.36976201A>CCA359486375NIPBLc.1294A>C (p.Asn432His)
c.550A>C (p.Asn184His)
c.634A>C (p.Asn212His)
n.914A>C
c.1-88377A>C (p.=)
5g.36976201A>GCA359486377NIPBLc.1294A>G (p.Asn432Asp)
c.550A>G (p.Asn184Asp)
c.634A>G (p.Asn212Asp)
n.914A>G
c.1-88377A>G (p.=)
5g.36976201A>TCA359486381NIPBLc.1294A>T (p.Asn432Tyr)
c.550A>T (p.Asn184Tyr)
c.634A>T (p.Asn212Tyr)
n.914A>T
c.1-88377A>T (p.=)
5g.36976202A>CCA359486383NIPBLc.1295A>C (p.Asn432Thr)
c.551A>C (p.Asn184Thr)
c.635A>C (p.Asn212Thr)
n.915A>C
c.1-88376A>C (p.=)
5g.36976202A>GCA359486384NIPBLc.1295A>G (p.Asn432Ser)
c.551A>G (p.Asn184Ser)
c.635A>G (p.Asn212Ser)
n.915A>G
c.1-88376A>G (p.=)
5g.36976202A>TCA359486385NIPBLc.1295A>T (p.Asn432Ile)
c.551A>T (p.Asn184Ile)
c.635A>T (p.Asn212Ile)
n.915A>T
c.1-88376A>T (p.=)
5g.36976203T>ACA359486386NIPBLc.1296T>A (p.Asn432Lys)
c.552T>A (p.Asn184Lys)
c.636T>A (p.Asn212Lys)
n.916T>A
c.1-88375T>A (p.=)
5g.36976203T>CCA444095494NIPBLc.1296T>C (p.Asn432=)
c.552T>C (p.Asn184=)
c.636T>C (p.Asn212=)
n.916T>C
c.1-88375T>C (p.=)
5g.36976203T>GCA359486388NIPBLc.1296T>G (p.Asn432Lys)
c.552T>G (p.Asn184Lys)
c.636T>G (p.Asn212Lys)
n.916T>G
c.1-88375T>G (p.=)
5g.36976204C>ACA359486398NIPBLc.1297C>A (p.Gln433Lys)
c.553C>A (p.Gln185Lys)
c.637C>A (p.Gln213Lys)
n.917C>A
c.1-88374C>A (p.=)
5g.36976204C>GCA359486394NIPBLc.1297C>G (p.Gln433Glu)
c.553C>G (p.Gln185Glu)
c.637C>G (p.Gln213Glu)
n.917C>G
c.1-88374C>G (p.=)
5g.36976204C>TCA271964NIPBLc.1297C>T (p.Gln433Ter)
c.553C>T (p.Gln185Ter)
c.637C>T (p.Gln213Ter)
n.917C>T
c.1-88374C>T (p.=)
ClinVar dbSNP
5g.36976205A>CCA359486404NIPBLc.1298A>C (p.Gln433Pro)
c.554A>C (p.Gln185Pro)
c.638A>C (p.Gln213Pro)
n.918A>C
c.1-88373A>C (p.=)
5g.36976205A>GCA359486407NIPBLc.1298A>G (p.Gln433Arg)
c.554A>G (p.Gln185Arg)
c.638A>G (p.Gln213Arg)
n.918A>G
c.1-88373A>G (p.=)
5g.36976205A>TCA359486410NIPBLc.1298A>T (p.Gln433Leu)
c.554A>T (p.Gln185Leu)
c.638A>T (p.Gln213Leu)
n.918A>T
c.1-88373A>T (p.=)
5g.36976206A>CCA359486413NIPBLc.1299A>C (p.Gln433His)
c.555A>C (p.Gln185His)
c.639A>C (p.Gln213His)
n.919A>C
c.1-88372A>C (p.=)
5g.36976206A>GCA444095501NIPBLc.1299A>G (p.Gln433=)
c.555A>G (p.Gln185=)
c.639A>G (p.Gln213=)
n.919A>G
c.1-88372A>G (p.=)
5g.36976206A>TCA359486416NIPBLc.1299A>T (p.Gln433His)
c.555A>T (p.Gln185His)
c.639A>T (p.Gln213His)
n.919A>T
c.1-88372A>T (p.=)
5g.36976207G>ACA359486421NIPBLc.1300G>A (p.Val434Met)
c.556G>A (p.Val186Met)
c.640G>A (p.Val214Met)
n.920G>A
c.1-88371G>A (p.=)
5g.36976207G>CCA359486425NIPBLc.1300G>C (p.Val434Leu)
c.556G>C (p.Val186Leu)
c.640G>C (p.Val214Leu)
n.920G>C
c.1-88371G>C (p.=)
5g.36976207G>TCA359486427NIPBLc.1300G>T (p.Val434Leu)
c.556G>T (p.Val186Leu)
c.640G>T (p.Val214Leu)
n.920G>T
c.1-88371G>T (p.=)
5g.36976208T>ACA359486431NIPBLc.1301T>A (p.Val434Glu)
c.557T>A (p.Val186Glu)
c.641T>A (p.Val214Glu)
n.921T>A
c.1-88370T>A (p.=)
5g.36976208T>CCA359486432NIPBLc.1301T>C (p.Val434Ala)
c.557T>C (p.Val186Ala)
c.641T>C (p.Val214Ala)
n.921T>C
c.1-88370T>C (p.=)
5g.36976208T>GCA359486434NIPBLc.1301T>G (p.Val434Gly)
c.557T>G (p.Val186Gly)
c.641T>G (p.Val214Gly)
n.921T>G
c.1-88370T>G (p.=)
5g.36976209G>ACA444095504NIPBLc.1302G>A (p.Val434=)
c.558G>A (p.Val186=)
c.642G>A (p.Val214=)
n.922G>A
c.1-88369G>A (p.=)
5g.36976209G>CCA3236011NIPBLc.1302G>C (p.Val434=)
c.558G>C (p.Val186=)
c.642G>C (p.Val214=)
n.922G>C
c.1-88369G>C (p.=)
ClinVar dbSNP ExAC gnomAD
5g.36976209G>TCA444095505NIPBLc.1302G>T (p.Val434=)
c.558G>T (p.Val186=)
c.642G>T (p.Val214=)
n.922G>T
c.1-88369G>T (p.=)
5g.36976210C>ACA359486447NIPBLc.1303C>A (p.Pro435Thr)
c.559C>A (p.Pro187Thr)
c.643C>A (p.Pro215Thr)
n.923C>A
c.1-88368C>A (p.=)
5g.36976210C>GCA359486444NIPBLc.1303C>G (p.Pro435Ala)
c.559C>G (p.Pro187Ala)
c.643C>G (p.Pro215Ala)
n.923C>G
c.1-88368C>G (p.=)

Number of alleles fetched