Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.36958118A>CCA359474761NIPBLc.245A>C (p.Asn82Thr)
n.224A>C
c.-1+81096A>C (p.=)
5g.36958118A>GCA359474763NIPBLc.245A>G (p.Asn82Ser)
n.224A>G
c.-1+81096A>G (p.=)
5g.36958118A>TCA359474765NIPBLc.245A>T (p.Asn82Ile)
n.224A>T
c.-1+81096A>T (p.=)
5g.36958119C>ACA359474767NIPBLc.246C>A (p.Asn82Lys)
n.225C>A
c.-1+81097C>A (p.=)
5g.36958119C>GCA359474768NIPBLc.246C>G (p.Asn82Lys)
n.225C>G
c.-1+81097C>G (p.=)
5g.36958119C>TCA443901854NIPBLc.246C>T (p.Asn82=)
n.225C>T
c.-1+81097C>T (p.=)
5g.36958120C>ACA359474778NIPBLc.247C>A (p.Leu83Ile)
n.226C>A
c.-1+81098C>A (p.=)
COSMIC COSMIC
5g.36958120C=CA1539578142NIPBLc.247C= (p.Leu83=)
n.226C=
c.-1+81098C= (p.=)
5g.36958120C>GCA359474774NIPBLc.247C>G (p.Leu83Val)
n.226C>G
c.-1+81098C>G (p.=)
5g.36958120C>TCA359474772NIPBLc.247C>T (p.Leu83Phe)
n.226C>T
c.-1+81098C>T (p.=)
5g.36958121T>ACA359474781NIPBLc.248T>A (p.Leu83His)
n.227T>A
c.-1+81099T>A (p.=)
5g.36958121T>CCA359474782NIPBLc.248T>C (p.Leu83Pro)
n.227T>C
c.-1+81099T>C (p.=)
5g.36958121T>GCA359474784NIPBLc.248T>G (p.Leu83Arg)
n.227T>G
c.-1+81099T>G (p.=)
5g.36958122T>ACA443901855NIPBLc.249T>A (p.Leu83=)
n.228T>A
c.-1+81100T>A (p.=)
5g.36958122T>CCA443901856NIPBLc.249T>C (p.Leu83=)
n.228T>C
c.-1+81100T>C (p.=)
5g.36958122T>GCA443901857NIPBLc.249T>G (p.Leu83=)
n.228T>G
c.-1+81100T>G (p.=)
5g.36958123G>ACA3235770NIPBLc.250G>A (p.Gly84Ser)
n.229G>A
c.-1+81101G>A (p.=)
dbSNP ExAC gnomAD
5g.36958123G>CCA359474787NIPBLc.250G>C (p.Gly84Arg)
n.229G>C
c.-1+81101G>C (p.=)
5g.36958123G=CA1539578148NIPBLc.250G= (p.Gly84=)
n.229G=
c.-1+81101G= (p.=)
5g.36958123G>TCA359474788NIPBLc.250G>T (p.Gly84Cys)
n.229G>T
c.-1+81101G>T (p.=)
5g.36958124G>ACA359474791NIPBLc.251G>A (p.Gly84Asp)
n.230G>A
c.-1+81102G>A (p.=)
5g.36958124G>CCA359474795NIPBLc.251G>C (p.Gly84Ala)
n.230G>C
c.-1+81102G>C (p.=)
5g.36958124G>TCA359474793NIPBLc.251G>T (p.Gly84Val)
n.230G>T
c.-1+81102G>T (p.=)
5g.36958125C>ACA443901858NIPBLc.252C>A (p.Gly84=)
n.231C>A
c.-1+81103C>A (p.=)
5g.36958125C=CA1539578153NIPBLc.252C= (p.Gly84=)
n.231C=
c.-1+81103C= (p.=)
5g.36958125C>GCA443901859NIPBLc.252C>G (p.Gly84=)
n.231C>G
c.-1+81103C>G (p.=)
5g.36958125C>TCA443901860NIPBLc.252C>T (p.Gly84=)
n.231C>T
c.-1+81103C>T (p.=)
gnomAD
5g.36958126A>CCA359474797NIPBLc.253A>C (p.Ser85Arg)
n.232A>C
c.-1+81104A>C (p.=)
5g.36958126A>GCA359474799NIPBLc.253A>G (p.Ser85Gly)
n.232A>G
c.-1+81104A>G (p.=)
COSMIC COSMIC
5g.36958126A>TCA359474801NIPBLc.253A>T (p.Ser85Cys)
n.232A>T
c.-1+81104A>T (p.=)
5g.36958127G>ACA359474805NIPBLc.254G>A (p.Ser85Asn)
n.233G>A
c.-1+81105G>A (p.=)
5g.36958127G>CCA359474806NIPBLc.254G>C (p.Ser85Thr)
n.233G>C
c.-1+81105G>C (p.=)
gnomAD
5g.36958127G=CA1539578163NIPBLc.254G= (p.Ser85=)
n.233G=
c.-1+81105G= (p.=)
5g.36958127G>TCA359474809NIPBLc.254G>T (p.Ser85Ile)
n.233G>T
c.-1+81105G>T (p.=)
5g.36958128T>ACA359474812NIPBLc.255T>A (p.Ser85Arg)
n.234T>A
c.-1+81106T>A (p.=)
5g.36958128T>CCA3235771NIPBLc.255T>C (p.Ser85=)
n.234T>C
c.-1+81106T>C (p.=)
dbSNP ExAC gnomAD
5g.36958128T>GCA359474815NIPBLc.255T>G (p.Ser85Arg)
n.234T>G
c.-1+81106T>G (p.=)
5g.36958128T=CA1539578167NIPBLc.255T= (p.Ser85=)
n.234T=
c.-1+81106T= (p.=)
5g.36958129G>ACA16609631NIPBLc.256G>A (p.Asp86Asn)
n.235G>A
c.-1+81107G>A (p.=)
gnomAD
5g.36958129G>CCA359474825NIPBLc.256G>C (p.Asp86His)
n.235G>C
c.-1+81107G>C (p.=)
5g.36958129G=CA1539578176NIPBLc.256G= (p.Asp86=)
n.235G=
c.-1+81107G= (p.=)
5g.36958129G>TCA359474827NIPBLc.256G>T (p.Asp86Tyr)
n.235G>T
c.-1+81107G>T (p.=)
5g.36958130A>CCA359474832NIPBLc.257A>C (p.Asp86Ala)
n.236A>C
c.-1+81108A>C (p.=)
5g.36958130A>GCA359474834NIPBLc.257A>G (p.Asp86Gly)
n.236A>G
c.-1+81108A>G (p.=)
5g.36958130A>TCA359474830NIPBLc.257A>T (p.Asp86Val)
n.236A>T
c.-1+81108A>T (p.=)
5g.36958131T>ACA359474839NIPBLc.258T>A (p.Asp86Glu)
n.237T>A
c.-1+81109T>A (p.=)
5g.36958131T>CCA443901861NIPBLc.258T>C (p.Asp86=)
n.237T>C
c.-1+81109T>C (p.=)
5g.36958131T>GCA359474837NIPBLc.258T>G (p.Asp86Glu)
n.237T>G
c.-1+81109T>G (p.=)
5g.36958132G>ACA359474845NIPBLc.259G>A (p.Asp87Asn)
n.238G>A
c.-1+81110G>A (p.=)
5g.36958132G>CCA359474841NIPBLc.259G>C (p.Asp87His)
n.238G>C
c.-1+81110G>C (p.=)

Number of alleles fetched