Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.36958218_36958222delCA645541404NIPBLc.345_349del (p.Arg115SerfsTer11)
n.324_328del
c.-1+81196_-1+81200del (p.=)
COSMIC COSMIC
5g.36958218A=CA1539578394NIPBLc.345A= (p.Arg115=)
n.324A=
c.-1+81196A= (p.=)
5g.36958218A>CCA359475281NIPBLc.345A>C (p.Arg115Ser)
n.324A>C
c.-1+81196A>C (p.=)
5g.36958218A>GCA272065NIPBLc.345A>G (p.Arg115=)
n.324A>G
c.-1+81196A>G (p.=)
ClinVar dbSNP
5g.36958218A>TCA359475284NIPBLc.345A>T (p.Arg115Ser)
n.324A>T
c.-1+81196A>T (p.=)
5g.36958219T>ACA359475287NIPBLc.346T>A (p.Tyr116Asn)
n.325T>A
c.-1+81197T>A (p.=)
5g.36958219T>CCA359475289NIPBLc.346T>C (p.Tyr116His)
n.325T>C
c.-1+81197T>C (p.=)
5g.36958219T>GCA359475291NIPBLc.346T>G (p.Tyr116Asp)
n.325T>G
c.-1+81197T>G (p.=)
5g.36958220A>CCA359475293NIPBLc.347A>C (p.Tyr116Ser)
n.326A>C
c.-1+81198A>C (p.=)
5g.36958220A>GCA359475295NIPBLc.347A>G (p.Tyr116Cys)
n.326A>G
c.-1+81198A>G (p.=)
5g.36958220A>TCA359475297NIPBLc.347A>T (p.Tyr116Phe)
n.326A>T
c.-1+81198A>T (p.=)
5g.36958220dupCA658820581NIPBLc.347dup (p.Tyr116Ter)
n.326dup
c.-1+81198dup (p.=)
5g.36958221T>ACA359475300NIPBLc.348T>A (p.Tyr116Ter)
n.327T>A
c.-1+81199T>A (p.=)
5g.36958221T>CCA443901909NIPBLc.348T>C (p.Tyr116=)
n.327T>C
c.-1+81199T>C (p.=)
gnomAD
5g.36958221T>GCA359475302NIPBLc.348T>G (p.Tyr116Ter)
n.327T>G
c.-1+81199T>G (p.=)
5g.36958221T=CA1539578406NIPBLc.348T= (p.Tyr116=)
n.327T=
c.-1+81199T= (p.=)
5g.36958222G>ACA359475305NIPBLc.349G>A (p.Val117Ile)
n.328G>A
c.-1+81200G>A (p.=)
5g.36958222G>CCA359475306NIPBLc.349G>C (p.Val117Leu)
n.328G>C
c.-1+81200G>C (p.=)
5g.36958222G>TCA359475309NIPBLc.349G>T (p.Val117Leu)
n.328G>T
c.-1+81200G>T (p.=)
5g.36958223T>ACA359475312NIPBLc.350T>A (p.Val117Glu)
n.329T>A
c.-1+81201T>A (p.=)
5g.36958223T>CCA359475314NIPBLc.350T>C (p.Val117Ala)
n.329T>C
c.-1+81201T>C (p.=)
gnomAD
5g.36958223T>GCA359475316NIPBLc.350T>G (p.Val117Gly)
n.329T>G
c.-1+81201T>G (p.=)
5g.36958223T=CA1539578411NIPBLc.350T= (p.Val117=)
n.329T=
c.-1+81201T= (p.=)
5g.36958224A>CCA443901910NIPBLc.351A>C (p.Val117=)
n.330A>C
c.-1+81202A>C (p.=)
5g.36958224A>GCA443901912NIPBLc.351A>G (p.Val117=)
n.330A>G
c.-1+81202A>G (p.=)
5g.36958224A>TCA443901911NIPBLc.351A>T (p.Val117=)
n.330A>T
c.-1+81202A>T (p.=)
5g.36958225C>ACA359475324NIPBLc.352C>A (p.Gln118Lys)
n.331C>A
c.-1+81203C>A (p.=)
5g.36958225C>GCA359475320NIPBLc.352C>G (p.Gln118Glu)
n.331C>G
c.-1+81203C>G (p.=)
5g.36958225C>TCA359475322NIPBLc.352C>T (p.Gln118Ter)
n.331C>T
c.-1+81203C>T (p.=)
5g.36958226A>CCA359475327NIPBLc.353A>C (p.Gln118Pro)
n.332A>C
c.-1+81204A>C (p.=)
5g.36958226A>GCA359475329NIPBLc.353A>G (p.Gln118Arg)
n.332A>G
c.-1+81204A>G (p.=)
5g.36958226A>TCA359475332NIPBLc.353A>T (p.Gln118Leu)
n.332A>T
c.-1+81204A>T (p.=)
5g.36958227A=CA1539578414NIPBLc.354A= (p.Gln118=)
n.333A=
c.-1+81205A= (p.=)
5g.36958227A>CCA359475334NIPBLc.354A>C (p.Gln118His)
n.333A>C
c.-1+81205A>C (p.=)
5g.36958227A>GCA443901913NIPBLc.354A>G (p.Gln118=)
n.333A>G
c.-1+81205A>G (p.=)
5g.36958227A>TCA359475336NIPBLc.354A>T (p.Gln118His)
n.333A>T
c.-1+81205A>T (p.=)
5g.36958228A>CCA359475339NIPBLc.355A>C (p.Ser119Arg)
n.334A>C
c.-1+81206A>C (p.=)
5g.36958228A>GCA359475343NIPBLc.355A>G (p.Ser119Gly)
n.334A>G
c.-1+81206A>G (p.=)
5g.36958228A>TCA359475341NIPBLc.355A>T (p.Ser119Cys)
n.334A>T
c.-1+81206A>T (p.=)
5g.36958229G>ACA359475346NIPBLc.356G>A (p.Ser119Asn)
n.335G>A
c.-1+81207G>A (p.=)
5g.36958229G>CCA359475348NIPBLc.356G>C (p.Ser119Thr)
n.335G>C
c.-1+81207G>C (p.=)
5g.36958229G>TCA359475350NIPBLc.356G>T (p.Ser119Ile)
n.335G>T
c.-1+81207G>T (p.=)
5g.36958230T>ACA359475353NIPBLc.357T>A (p.Ser119Arg)
n.336T>A
c.-1+81208T>A (p.=)
5g.36958230T>CCA443901914NIPBLc.357T>C (p.Ser119=)
n.336T>C
c.-1+81208T>C (p.=)
5g.36958230T>GCA359475355NIPBLc.357T>G (p.Ser119Arg)
n.336T>G
c.-1+81208T>G (p.=)
5g.36958231G>ACA359475358NIPBLc.358G>A (p.Gly120Arg)
n.337G>A
c.-1+81209G>A (p.=)
5g.36958231G>CCA359475360NIPBLc.358G>C (p.Gly120Arg)
n.337G>C
c.-1+81209G>C (p.=)
5g.36958231G>TCA359475362NIPBLc.358G>T (p.Gly120Ter)
n.337G>T
c.-1+81209G>T (p.=)
5g.36958232G>ACA359475364NIPBLc.358+1G>A (p.=)
n.337+1G>A
c.-1+81210G>A (p.=)
5g.36958232G>CCA359475367NIPBLc.358+1G>C (p.=)
n.337+1G>C
c.-1+81210G>C (p.=)

Number of alleles fetched