Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.37020747delCA3236726NIPBLc.5226-28del (n.5226-28del)
c.1-43831del (n.1-43831del)
c.4482-28del (n.4482-28del)
c.5028-28del (n.5028-28del)
c.4845-28del (n.4845-28del)
c.4566-28del (n.4566-28del)
c.3609-28del (n.3609-28del)
c.3600-28del (n.3600-28del)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.37020747A>GCA2673553458NIPBLc.5226-28A>G (n.5226-28A>G)
c.1-43831A>G (n.1-43831A>G)
c.4482-28A>G (n.4482-28A>G)
c.5028-28A>G (n.5028-28A>G)
c.4845-28A>G (n.4845-28A>G)
c.4566-28A>G (n.4566-28A>G)
c.3609-28A>G (n.3609-28A>G)
c.3600-28A>G (n.3600-28A>G)
 gnomAD v4
5g.37020747_37020752delinsATAAATCA1539584302NIPBLc.5226-28_5226-23delinsATAAAT (n.5226-28_5226-23delinsATAAAT)
c.1-43831_1-43826delinsATAAAT (n.1-43831_1-43826delinsATAAAT)
c.4482-28_4482-23delinsATAAAT (n.4482-28_4482-23delinsATAAAT)
c.5028-28_5028-23delinsATAAAT (n.5028-28_5028-23delinsATAAAT)
c.4845-28_4845-23delinsATAAAT (n.4845-28_4845-23delinsATAAAT)
c.4566-28_4566-23delinsATAAAT (n.4566-28_4566-23delinsATAAAT)
c.3609-28_3609-23delinsATAAAT (n.3609-28_3609-23delinsATAAAT)
c.3600-28_3600-23delinsATAAAT (n.3600-28_3600-23delinsATAAAT)
5g.37020749_37020753delCA1075105959NIPBLc.5226-26_5226-22del (n.5226-26_5226-22del)
c.1-43829_1-43825del (n.1-43829_1-43825del)
c.4482-26_4482-22del (n.4482-26_4482-22del)
c.5028-26_5028-22del (n.5028-26_5028-22del)
c.4845-26_4845-22del (n.4845-26_4845-22del)
c.4566-26_4566-22del (n.4566-26_4566-22del)
c.3609-26_3609-22del (n.3609-26_3609-22del)
c.3600-26_3600-22del (n.3600-26_3600-22del)
 dbSNP gnomAD v3 gnomAD v4
5g.37020749A=CA1539584310NIPBLc.5226-26A= (n.5226-26A=)
c.1-43829A= (n.1-43829A=)
c.4482-26A= (n.4482-26A=)
c.5028-26A= (n.5028-26A=)
c.4845-26A= (n.4845-26A=)
c.4566-26A= (n.4566-26A=)
c.3609-26A= (n.3609-26A=)
c.3600-26A= (n.3600-26A=)
5g.37020749A>GCA1075105960NIPBLc.5226-26A>G (n.5226-26A>G)
c.1-43829A>G (n.1-43829A>G)
c.4482-26A>G (n.4482-26A>G)
c.5028-26A>G (n.5028-26A>G)
c.4845-26A>G (n.4845-26A>G)
c.4566-26A>G (n.4566-26A>G)
c.3609-26A>G (n.3609-26A>G)
c.3600-26A>G (n.3600-26A>G)
 dbSNP gnomAD v3 gnomAD v4
5g.37020751A=CA1539584336NIPBLc.5226-24A= (n.5226-24A=)
c.1-43827A= (n.1-43827A=)
c.4482-24A= (n.4482-24A=)
c.5028-24A= (n.5028-24A=)
c.4845-24A= (n.4845-24A=)
c.4566-24A= (n.4566-24A=)
c.3609-24A= (n.3609-24A=)
c.3600-24A= (n.3600-24A=)
5g.37020751A>GCA559295234NIPBLc.5226-24A>G (n.5226-24A>G)
c.1-43827A>G (n.1-43827A>G)
c.4482-24A>G (n.4482-24A>G)
c.5028-24A>G (n.5028-24A>G)
c.4845-24A>G (n.4845-24A>G)
c.4566-24A>G (n.4566-24A>G)
c.3609-24A>G (n.3609-24A>G)
c.3600-24A>G (n.3600-24A>G)
 dbSNP gnomAD v2 gnomAD v4
5g.37020752T>ACA559295235NIPBLc.5226-23T>A (n.5226-23T>A)
c.1-43826T>A (n.1-43826T>A)
c.4482-23T>A (n.4482-23T>A)
c.5028-23T>A (n.5028-23T>A)
c.4845-23T>A (n.4845-23T>A)
c.4566-23T>A (n.4566-23T>A)
c.3609-23T>A (n.3609-23T>A)
c.3600-23T>A (n.3600-23T>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.37020752T>CCA1539584342NIPBLc.5226-23T>C (n.5226-23T>C)
c.1-43826T>C (n.1-43826T>C)
c.4482-23T>C (n.4482-23T>C)
c.5028-23T>C (n.5028-23T>C)
c.4845-23T>C (n.4845-23T>C)
c.4566-23T>C (n.4566-23T>C)
c.3609-23T>C (n.3609-23T>C)
c.3600-23T>C (n.3600-23T>C)
 dbSNP gnomAD v4
5g.37020752T=CA1539584339NIPBLc.5226-23T= (n.5226-23T=)
c.1-43826T= (n.1-43826T=)
c.4482-23T= (n.4482-23T=)
c.5028-23T= (n.5028-23T=)
c.4845-23T= (n.4845-23T=)
c.4566-23T= (n.4566-23T=)
c.3609-23T= (n.3609-23T=)
c.3600-23T= (n.3600-23T=)
5g.37020753T>ACA3236728NIPBLc.5226-22T>A (n.5226-22T>A)
c.1-43825T>A (n.1-43825T>A)
c.4482-22T>A (n.4482-22T>A)
c.5028-22T>A (n.5028-22T>A)
c.4845-22T>A (n.4845-22T>A)
c.4566-22T>A (n.4566-22T>A)
c.3609-22T>A (n.3609-22T>A)
c.3600-22T>A (n.3600-22T>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.37020753T>GCA3236727NIPBLc.5226-22T>G (n.5226-22T>G)
c.1-43825T>G (n.1-43825T>G)
c.4482-22T>G (n.4482-22T>G)
c.5028-22T>G (n.5028-22T>G)
c.4845-22T>G (n.4845-22T>G)
c.4566-22T>G (n.4566-22T>G)
c.3609-22T>G (n.3609-22T>G)
c.3600-22T>G (n.3600-22T>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.37020753T=CA1539584346NIPBLc.5226-22T= (n.5226-22T=)
c.1-43825T= (n.1-43825T=)
c.4482-22T= (n.4482-22T=)
c.5028-22T= (n.5028-22T=)
c.4845-22T= (n.4845-22T=)
c.4566-22T= (n.4566-22T=)
c.3609-22T= (n.3609-22T=)
c.3600-22T= (n.3600-22T=)
5g.37020755T>CCA2673553464NIPBLc.5226-20T>C (n.5226-20T>C)
c.1-43823T>C (n.1-43823T>C)
c.4482-20T>C (n.4482-20T>C)
c.5028-20T>C (n.5028-20T>C)
c.4845-20T>C (n.4845-20T>C)
c.4566-20T>C (n.4566-20T>C)
c.3609-20T>C (n.3609-20T>C)
c.3600-20T>C (n.3600-20T>C)
 gnomAD v4
5g.37020757A=CA1539584351NIPBLc.5226-18A= (n.5226-18A=)
c.1-43821A= (n.1-43821A=)
c.4482-18A= (n.4482-18A=)
c.5028-18A= (n.5028-18A=)
c.4845-18A= (n.4845-18A=)
c.4566-18A= (n.4566-18A=)
c.3609-18A= (n.3609-18A=)
c.3600-18A= (n.3600-18A=)
5g.37020757A>CCA2531593436NIPBLc.5226-18A>C (n.5226-18A>C)
c.1-43821A>C (n.1-43821A>C)
c.4482-18A>C (n.4482-18A>C)
c.5028-18A>C (n.5028-18A>C)
c.4845-18A>C (n.4845-18A>C)
c.4566-18A>C (n.4566-18A>C)
c.3609-18A>C (n.3609-18A>C)
c.3600-18A>C (n.3600-18A>C)
5g.37020757A>GCA3236729NIPBLc.5226-18A>G (n.5226-18A>G)
c.1-43821A>G (n.1-43821A>G)
c.4482-18A>G (n.4482-18A>G)
c.5028-18A>G (n.5028-18A>G)
c.4845-18A>G (n.4845-18A>G)
c.4566-18A>G (n.4566-18A>G)
c.3609-18A>G (n.3609-18A>G)
c.3600-18A>G (n.3600-18A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.37020757A>TCA559295236NIPBLc.5226-18A>T (n.5226-18A>T)
c.1-43821A>T (n.1-43821A>T)
c.4482-18A>T (n.4482-18A>T)
c.5028-18A>T (n.5028-18A>T)
c.4845-18A>T (n.4845-18A>T)
c.4566-18A>T (n.4566-18A>T)
c.3609-18A>T (n.3609-18A>T)
c.3600-18A>T (n.3600-18A>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.37020761A=CA1539584357NIPBLc.5226-14A= (n.5226-14A=)
c.1-43817A= (n.1-43817A=)
c.4482-14A= (n.4482-14A=)
c.5028-14A= (n.5028-14A=)
c.4845-14A= (n.4845-14A=)
c.4566-14A= (n.4566-14A=)
c.3609-14A= (n.3609-14A=)
c.3600-14A= (n.3600-14A=)
5g.37020761A>GCA172716NIPBLc.5226-14A>G (n.5226-14A>G)
c.1-43817A>G (n.1-43817A>G)
c.4482-14A>G (n.4482-14A>G)
c.5028-14A>G (n.5028-14A>G)
c.4845-14A>G (n.4845-14A>G)
c.4566-14A>G (n.4566-14A>G)
c.3609-14A>G (n.3609-14A>G)
c.3600-14A>G (n.3600-14A>G)
 ClinVar dbSNP
5g.37020762C>ACA2673553472NIPBLc.5226-13C>A (n.5226-13C>A)
c.1-43816C>A (n.1-43816C>A)
c.4482-13C>A (n.4482-13C>A)
c.5028-13C>A (n.5028-13C>A)
c.4845-13C>A (n.4845-13C>A)
c.4566-13C>A (n.4566-13C>A)
c.3609-13C>A (n.3609-13C>A)
c.3600-13C>A (n.3600-13C>A)
 gnomAD v4
5g.37020762C=CA1539584360NIPBLc.5226-13C= (n.5226-13C=)
c.1-43816C= (n.1-43816C=)
c.4482-13C= (n.4482-13C=)
c.5028-13C= (n.5028-13C=)
c.4845-13C= (n.4845-13C=)
c.4566-13C= (n.4566-13C=)
c.3609-13C= (n.3609-13C=)
c.3600-13C= (n.3600-13C=)
5g.37020762C>TCA3236730NIPBLc.5226-13C>T (n.5226-13C>T)
c.1-43816C>T (n.1-43816C>T)
c.4482-13C>T (n.4482-13C>T)
c.5028-13C>T (n.5028-13C>T)
c.4845-13C>T (n.4845-13C>T)
c.4566-13C>T (n.4566-13C>T)
c.3609-13C>T (n.3609-13C>T)
c.3600-13C>T (n.3600-13C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.37020762_37020764delinsCTTCA1539584363NIPBLc.5226-13_5226-11delinsCTT (n.5226-13_5226-11delinsCTT)
c.1-43816_1-43814delinsCTT (n.1-43816_1-43814delinsCTT)
c.4482-13_4482-11delinsCTT (n.4482-13_4482-11delinsCTT)
c.5028-13_5028-11delinsCTT (n.5028-13_5028-11delinsCTT)
c.4845-13_4845-11delinsCTT (n.4845-13_4845-11delinsCTT)
c.4566-13_4566-11delinsCTT (n.4566-13_4566-11delinsCTT)
c.3609-13_3609-11delinsCTT (n.3609-13_3609-11delinsCTT)
c.3600-13_3600-11delinsCTT (n.3600-13_3600-11delinsCTT)
5g.37020763T>ACA2673553477NIPBLc.5226-12T>A (n.5226-12T>A)
c.1-43815T>A (n.1-43815T>A)
c.4482-12T>A (n.4482-12T>A)
c.5028-12T>A (n.5028-12T>A)
c.4845-12T>A (n.4845-12T>A)
c.4566-12T>A (n.4566-12T>A)
c.3609-12T>A (n.3609-12T>A)
c.3600-12T>A (n.3600-12T>A)
 gnomAD v4
5g.37020766_37020767delCA1539584368NIPBLc.5226-9_5226-8del (n.5226-9_5226-8del)
c.1-43812_1-43811del (n.1-43812_1-43811del)
c.4482-9_4482-8del (n.4482-9_4482-8del)
c.5028-9_5028-8del (n.5028-9_5028-8del)
c.4845-9_4845-8del (n.4845-9_4845-8del)
c.4566-9_4566-8del (n.4566-9_4566-8del)
c.3609-9_3609-8del (n.3609-9_3609-8del)
c.3600-9_3600-8del (n.3600-9_3600-8del)
 dbSNP
5g.37020765_37020767delCA2673553475NIPBLc.5226-10_5226-8del (n.5226-10_5226-8del)
c.1-43813_1-43811del (n.1-43813_1-43811del)
c.4482-10_4482-8del (n.4482-10_4482-8del)
c.5028-10_5028-8del (n.5028-10_5028-8del)
c.4845-10_4845-8del (n.4845-10_4845-8del)
c.4566-10_4566-8del (n.4566-10_4566-8del)
c.3609-10_3609-8del (n.3609-10_3609-8del)
c.3600-10_3600-8del (n.3600-10_3600-8del)
 gnomAD v4
5g.37020764T>CCA3236731NIPBLc.5226-11T>C (n.5226-11T>C)
c.1-43814T>C (n.1-43814T>C)
c.4482-11T>C (n.4482-11T>C)
c.5028-11T>C (n.5028-11T>C)
c.4845-11T>C (n.4845-11T>C)
c.4566-11T>C (n.4566-11T>C)
c.3609-11T>C (n.3609-11T>C)
c.3600-11T>C (n.3600-11T>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.37020764T>GCA2578289443NIPBLc.5226-11T>G (n.5226-11T>G)
c.1-43814T>G (n.1-43814T>G)
c.4482-11T>G (n.4482-11T>G)
c.5028-11T>G (n.5028-11T>G)
c.4845-11T>G (n.4845-11T>G)
c.4566-11T>G (n.4566-11T>G)
c.3609-11T>G (n.3609-11T>G)
c.3600-11T>G (n.3600-11T>G)
5g.37020764T=CA1539584378NIPBLc.5226-11T= (n.5226-11T=)
c.1-43814T= (n.1-43814T=)
c.4482-11T= (n.4482-11T=)
c.5028-11T= (n.5028-11T=)
c.4845-11T= (n.4845-11T=)
c.4566-11T= (n.4566-11T=)
c.3609-11T= (n.3609-11T=)
c.3600-11T= (n.3600-11T=)
5g.37020765T>ACA1539584390NIPBLc.5226-10T>A (n.5226-10T>A)
c.1-43813T>A (n.1-43813T>A)
c.4482-10T>A (n.4482-10T>A)
c.5028-10T>A (n.5028-10T>A)
c.4845-10T>A (n.4845-10T>A)
c.4566-10T>A (n.4566-10T>A)
c.3609-10T>A (n.3609-10T>A)
c.3600-10T>A (n.3600-10T>A)
 dbSNP
5g.37020765T>CCA2708316627NIPBLc.5226-10T>C (n.5226-10T>C)
c.1-43813T>C (n.1-43813T>C)
c.4482-10T>C (n.4482-10T>C)
c.5028-10T>C (n.5028-10T>C)
c.4845-10T>C (n.4845-10T>C)
c.4566-10T>C (n.4566-10T>C)
c.3609-10T>C (n.3609-10T>C)
c.3600-10T>C (n.3600-10T>C)
 dbSNP
5g.37020765T=CA1539584389NIPBLc.5226-10T= (n.5226-10T=)
c.1-43813T= (n.1-43813T=)
c.4482-10T= (n.4482-10T=)
c.5028-10T= (n.5028-10T=)
c.4845-10T= (n.4845-10T=)
c.4566-10T= (n.4566-10T=)
c.3609-10T= (n.3609-10T=)
c.3600-10T= (n.3600-10T=)
5g.37020766T>GCA3236732NIPBLc.5226-9T>G (n.5226-9T>G)
c.1-43812T>G (n.1-43812T>G)
c.4482-9T>G (n.4482-9T>G)
c.5028-9T>G (n.5028-9T>G)
c.4845-9T>G (n.4845-9T>G)
c.4566-9T>G (n.4566-9T>G)
c.3609-9T>G (n.3609-9T>G)
c.3600-9T>G (n.3600-9T>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.37020766T=CA1539584396NIPBLc.5226-9T= (n.5226-9T=)
c.1-43812T= (n.1-43812T=)
c.4482-9T= (n.4482-9T=)
c.5028-9T= (n.5028-9T=)
c.4845-9T= (n.4845-9T=)
c.4566-9T= (n.4566-9T=)
c.3609-9T= (n.3609-9T=)
c.3600-9T= (n.3600-9T=)
5g.37020767T>CCA2578289445NIPBLc.5226-8T>C (n.5226-8T>C)
c.1-43811T>C (n.1-43811T>C)
c.4482-8T>C (n.4482-8T>C)
c.5028-8T>C (n.5028-8T>C)
c.4845-8T>C (n.4845-8T>C)
c.4566-8T>C (n.4566-8T>C)
c.3609-8T>C (n.3609-8T>C)
c.3600-8T>C (n.3600-8T>C)
5g.37020768G>CCA117028125NIPBLc.5226-7G>C (n.5226-7G>C)
c.1-43810G>C (n.1-43810G>C)
c.4482-7G>C (n.4482-7G>C)
c.5028-7G>C (n.5028-7G>C)
c.4845-7G>C (n.4845-7G>C)
c.4566-7G>C (n.4566-7G>C)
c.3609-7G>C (n.3609-7G>C)
c.3600-7G>C (n.3600-7G>C)
 dbSNP gnomAD v4
5g.37020768G=CA1539584415NIPBLc.5226-7G= (n.5226-7G=)
c.1-43810G= (n.1-43810G=)
c.4482-7G= (n.4482-7G=)
c.5028-7G= (n.5028-7G=)
c.4845-7G= (n.4845-7G=)
c.4566-7G= (n.4566-7G=)
c.3609-7G= (n.3609-7G=)
c.3600-7G= (n.3600-7G=)
5g.37020771G>ACA3236733NIPBLc.5226-4G>A (n.5226-4G>A)
c.1-43807G>A (n.1-43807G>A)
c.4482-4G>A (n.4482-4G>A)
c.5028-4G>A (n.5028-4G>A)
c.4845-4G>A (n.4845-4G>A)
c.4566-4G>A (n.4566-4G>A)
c.3609-4G>A (n.3609-4G>A)
c.3600-4G>A (n.3600-4G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.37020771G=CA1539584422NIPBLc.5226-4G= (n.5226-4G=)
c.1-43807G= (n.1-43807G=)
c.4482-4G= (n.4482-4G=)
c.5028-4G= (n.5028-4G=)
c.4845-4G= (n.4845-4G=)
c.4566-4G= (n.4566-4G=)
c.3609-4G= (n.3609-4G=)
c.3600-4G= (n.3600-4G=)
5g.37020772C>TCA2580073213NIPBLc.5226-3C>T (n.5226-3C>T)
c.1-43806C>T (n.1-43806C>T)
c.4482-3C>T (n.4482-3C>T)
c.5028-3C>T (n.5028-3C>T)
c.4845-3C>T (n.4845-3C>T)
c.4566-3C>T (n.4566-3C>T)
c.3609-3C>T (n.3609-3C>T)
c.3600-3C>T (n.3600-3C>T)
 ClinVar
5g.37020773A>CCA359487668NIPBLc.5226-2A>C (n.5226-2A>C)
c.1-43805A>C (n.1-43805A>C)
c.4482-2A>C (n.4482-2A>C)
c.5028-2A>C (n.5028-2A>C)
c.4845-2A>C (n.4845-2A>C)
c.4566-2A>C (n.4566-2A>C)
c.3609-2A>C (n.3609-2A>C)
c.3600-2A>C (n.3600-2A>C)
5g.37020773A>GCA359487663NIPBLc.5226-2A>G (n.5226-2A>G)
c.1-43805A>G (n.1-43805A>G)
c.4482-2A>G (n.4482-2A>G)
c.5028-2A>G (n.5028-2A>G)
c.4845-2A>G (n.4845-2A>G)
c.4566-2A>G (n.4566-2A>G)
c.3609-2A>G (n.3609-2A>G)
c.3600-2A>G (n.3600-2A>G)
5g.37020773A>TCA359487661NIPBLc.5226-2A>T (n.5226-2A>T)
c.1-43805A>T (n.1-43805A>T)
c.4482-2A>T (n.4482-2A>T)
c.5028-2A>T (n.5028-2A>T)
c.4845-2A>T (n.4845-2A>T)
c.4566-2A>T (n.4566-2A>T)
c.3609-2A>T (n.3609-2A>T)
c.3600-2A>T (n.3600-2A>T)
5g.37020774G>ACA359487673NIPBLc.5226-1G>A (n.5226-1G>A)
c.1-43804G>A (n.1-43804G>A)
c.4482-1G>A (n.4482-1G>A)
c.5028-1G>A (n.5028-1G>A)
c.4845-1G>A (n.4845-1G>A)
c.4566-1G>A (n.4566-1G>A)
c.3609-1G>A (n.3609-1G>A)
c.3600-1G>A (n.3600-1G>A)
5g.37020774G>CCA359487675NIPBLc.5226-1G>C (n.5226-1G>C)
c.1-43804G>C (n.1-43804G>C)
c.4482-1G>C (n.4482-1G>C)
c.5028-1G>C (n.5028-1G>C)
c.4845-1G>C (n.4845-1G>C)
c.4566-1G>C (n.4566-1G>C)
c.3609-1G>C (n.3609-1G>C)
c.3600-1G>C (n.3600-1G>C)
5g.37020774G>TCA359487678NIPBLc.5226-1G>T (n.5226-1G>T)
c.1-43804G>T (n.1-43804G>T)
c.4482-1G>T (n.4482-1G>T)
c.5028-1G>T (n.5028-1G>T)
c.4845-1G>T (n.4845-1G>T)
c.4566-1G>T (n.4566-1G>T)
c.3609-1G>T (n.3609-1G>T)
c.3600-1G>T (n.3600-1G>T)
5g.37020775G>ACA443905147NIPBLc.5226G>A (p.Lys1742=)
c.1-43803G>A (n.1-43803G>A)
c.4482G>A (p.Lys1494=)
c.5028G>A (p.Lys1676=)
c.4845G>A (p.Lys1615=)
c.4566G>A (p.Lys1522=)
c.3609G>A (p.Lys1203=)
c.3600G>A (p.Lys1200=)
 dbSNP gnomAD v4
5g.37020775G>CCA359487694NIPBLc.5226G>C (p.Lys1742Asn)
c.1-43803G>C (n.1-43803G>C)
c.4482G>C (p.Lys1494Asn)
c.5028G>C (p.Lys1676Asn)
c.4845G>C (p.Lys1615Asn)
c.4566G>C (p.Lys1522Asn)
c.3609G>C (p.Lys1203Asn)
c.3600G>C (p.Lys1200Asn)
5g.37020775G=CA1539584442NIPBLc.5226G= (p.Lys1742=)
c.1-43803G= (n.1-43803G=)
c.4482G= (p.Lys1494=)
c.5028G= (p.Lys1676=)
c.4845G= (p.Lys1615=)
c.4566G= (p.Lys1522=)
c.3609G= (p.Lys1203=)
c.3600G= (p.Lys1200=)
5g.37020775G>TCA359487696NIPBLc.5226G>T (p.Lys1742Asn)
c.1-43803G>T (n.1-43803G>T)
c.4482G>T (p.Lys1494Asn)
c.5028G>T (p.Lys1676Asn)
c.4845G>T (p.Lys1615Asn)
c.4566G>T (p.Lys1522Asn)
c.3609G>T (p.Lys1203Asn)
c.3600G>T (p.Lys1200Asn)
5g.37020776A=CA1539584449NIPBLc.5227A= (p.Met1743=)
c.1-43802A= (n.1-43802A=)
c.4483A= (p.Met1495=)
c.5029A= (p.Met1677=)
c.4846A= (p.Met1616=)
c.4567A= (p.Met1523=)
c.3610A= (p.Met1204=)
c.3601A= (p.Met1201=)
5g.37020776A>CCA359487698NIPBLc.5227A>C (p.Met1743Leu)
c.1-43802A>C (n.1-43802A>C)
c.4483A>C (p.Met1495Leu)
c.5029A>C (p.Met1677Leu)
c.4846A>C (p.Met1616Leu)
c.4567A>C (p.Met1523Leu)
c.3610A>C (p.Met1204Leu)
c.3601A>C (p.Met1201Leu)
5g.37020776A>GCA3236734NIPBLc.5227A>G (p.Met1743Val)
c.1-43802A>G (n.1-43802A>G)
c.4483A>G (p.Met1495Val)
c.5029A>G (p.Met1677Val)
c.4846A>G (p.Met1616Val)
c.4567A>G (p.Met1523Val)
c.3610A>G (p.Met1204Val)
c.3601A>G (p.Met1201Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.37020776A>TCA359487702NIPBLc.5227A>T (p.Met1743Leu)
c.1-43802A>T (n.1-43802A>T)
c.4483A>T (p.Met1495Leu)
c.5029A>T (p.Met1677Leu)
c.4846A>T (p.Met1616Leu)
c.4567A>T (p.Met1523Leu)
c.3610A>T (p.Met1204Leu)
c.3601A>T (p.Met1201Leu)
 COSMIC COSMIC
5g.37020777T>ACA359487718NIPBLc.5228T>A (p.Met1743Lys)
c.1-43801T>A (n.1-43801T>A)
c.4484T>A (p.Met1495Lys)
c.5030T>A (p.Met1677Lys)
c.4847T>A (p.Met1616Lys)
c.4568T>A (p.Met1523Lys)
c.3611T>A (p.Met1204Lys)
c.3602T>A (p.Met1201Lys)
 dbSNP
5g.37020777T>CCA359487724NIPBLc.5228T>C (p.Met1743Thr)
c.1-43801T>C (n.1-43801T>C)
c.4484T>C (p.Met1495Thr)
c.5030T>C (p.Met1677Thr)
c.4847T>C (p.Met1616Thr)
c.4568T>C (p.Met1523Thr)
c.3611T>C (p.Met1204Thr)
c.3602T>C (p.Met1201Thr)
5g.37020777T>GCA359487727NIPBLc.5228T>G (p.Met1743Arg)
c.1-43801T>G (n.1-43801T>G)
c.4484T>G (p.Met1495Arg)
c.5030T>G (p.Met1677Arg)
c.4847T>G (p.Met1616Arg)
c.4568T>G (p.Met1523Arg)
c.3611T>G (p.Met1204Arg)
c.3602T>G (p.Met1201Arg)
5g.37020777T=CA1539584463NIPBLc.5228T= (p.Met1743=)
c.1-43801T= (n.1-43801T=)
c.4484T= (p.Met1495=)
c.5030T= (p.Met1677=)
c.4847T= (p.Met1616=)
c.4568T= (p.Met1523=)
c.3611T= (p.Met1204=)
c.3602T= (p.Met1201=)
5g.37020778G>ACA359487740NIPBLc.5229G>A (p.Met1743Ile)
c.1-43800G>A (n.1-43800G>A)
c.4485G>A (p.Met1495Ile)
c.5031G>A (p.Met1677Ile)
c.4848G>A (p.Met1616Ile)
c.4569G>A (p.Met1523Ile)
c.3612G>A (p.Met1204Ile)
c.3603G>A (p.Met1201Ile)
 dbSNP gnomAD v2
5g.37020778G>CCA359487743NIPBLc.5229G>C (p.Met1743Ile)
c.1-43800G>C (n.1-43800G>C)
c.4485G>C (p.Met1495Ile)
c.5031G>C (p.Met1677Ile)
c.4848G>C (p.Met1616Ile)
c.4569G>C (p.Met1523Ile)
c.3612G>C (p.Met1204Ile)
c.3603G>C (p.Met1201Ile)
5g.37020778G=CA1539584469NIPBLc.5229G= (p.Met1743=)
c.1-43800G= (n.1-43800G=)
c.4485G= (p.Met1495=)
c.5031G= (p.Met1677=)
c.4848G= (p.Met1616=)
c.4569G= (p.Met1523=)
c.3612G= (p.Met1204=)
c.3603G= (p.Met1201=)
5g.37020778G>TCA359487745NIPBLc.5229G>T (p.Met1743Ile)
c.1-43800G>T (n.1-43800G>T)
c.4485G>T (p.Met1495Ile)
c.5031G>T (p.Met1677Ile)
c.4848G>T (p.Met1616Ile)
c.4569G>T (p.Met1523Ile)
c.3612G>T (p.Met1204Ile)
c.3603G>T (p.Met1201Ile)
 COSMIC COSMIC
5g.37020779A=CA1539584476NIPBLc.5230A= (p.Asn1744=)
c.1-43799A= (n.1-43799A=)
c.4486A= (p.Asn1496=)
c.5032A= (p.Asn1678=)
c.4849A= (p.Asn1617=)
c.4570A= (p.Asn1524=)
c.3613A= (p.Asn1205=)
c.3604A= (p.Asn1202=)
5g.37020779A>CCA359487749NIPBLc.5230A>C (p.Asn1744His)
c.1-43799A>C (n.1-43799A>C)
c.4486A>C (p.Asn1496His)
c.5032A>C (p.Asn1678His)
c.4849A>C (p.Asn1617His)
c.4570A>C (p.Asn1524His)
c.3613A>C (p.Asn1205His)
c.3604A>C (p.Asn1202His)
5g.37020779A>GCA359487752NIPBLc.5230A>G (p.Asn1744Asp)
c.1-43799A>G (n.1-43799A>G)
c.4486A>G (p.Asn1496Asp)
c.5032A>G (p.Asn1678Asp)
c.4849A>G (p.Asn1617Asp)
c.4570A>G (p.Asn1524Asp)
c.3613A>G (p.Asn1205Asp)
c.3604A>G (p.Asn1202Asp)
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.37020779A>TCA3236735NIPBLc.5230A>T (p.Asn1744Tyr)
c.1-43799A>T (n.1-43799A>T)
c.4486A>T (p.Asn1496Tyr)
c.5032A>T (p.Asn1678Tyr)
c.4849A>T (p.Asn1617Tyr)
c.4570A>T (p.Asn1524Tyr)
c.3613A>T (p.Asn1205Tyr)
c.3604A>T (p.Asn1202Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.37020780A>CCA359487753NIPBLc.5231A>C (p.Asn1744Thr)
c.1-43798A>C (n.1-43798A>C)
c.4487A>C (p.Asn1496Thr)
c.5033A>C (p.Asn1678Thr)
c.4850A>C (p.Asn1617Thr)
c.4571A>C (p.Asn1524Thr)
c.3614A>C (p.Asn1205Thr)
c.3605A>C (p.Asn1202Thr)
5g.37020780A>GCA359487756NIPBLc.5231A>G (p.Asn1744Ser)
c.1-43798A>G (n.1-43798A>G)
c.4487A>G (p.Asn1496Ser)
c.5033A>G (p.Asn1678Ser)
c.4850A>G (p.Asn1617Ser)
c.4571A>G (p.Asn1524Ser)
c.3614A>G (p.Asn1205Ser)
c.3605A>G (p.Asn1202Ser)
 gnomAD v4
5g.37020780A>TCA359487757NIPBLc.5231A>T (p.Asn1744Ile)
c.1-43798A>T (n.1-43798A>T)
c.4487A>T (p.Asn1496Ile)
c.5033A>T (p.Asn1678Ile)
c.4850A>T (p.Asn1617Ile)
c.4571A>T (p.Asn1524Ile)
c.3614A>T (p.Asn1205Ile)
c.3605A>T (p.Asn1202Ile)
5g.37020781C>ACA359487760NIPBLc.5232C>A (p.Asn1744Lys)
c.1-43797C>A (n.1-43797C>A)
c.4488C>A (p.Asn1496Lys)
c.5034C>A (p.Asn1678Lys)
c.4851C>A (p.Asn1617Lys)
c.4572C>A (p.Asn1524Lys)
c.3615C>A (p.Asn1205Lys)
c.3606C>A (p.Asn1202Lys)
5g.37020781C>GCA359487763NIPBLc.5232C>G (p.Asn1744Lys)
c.1-43797C>G (n.1-43797C>G)
c.4488C>G (p.Asn1496Lys)
c.5034C>G (p.Asn1678Lys)
c.4851C>G (p.Asn1617Lys)
c.4572C>G (p.Asn1524Lys)
c.3615C>G (p.Asn1205Lys)
c.3606C>G (p.Asn1202Lys)
5g.37020781C>TCA443905150NIPBLc.5232C>T (p.Asn1744=)
c.1-43797C>T (n.1-43797C>T)
c.4488C>T (p.Asn1496=)
c.5034C>T (p.Asn1678=)
c.4851C>T (p.Asn1617=)
c.4572C>T (p.Asn1524=)
c.3615C>T (p.Asn1205=)
c.3606C>T (p.Asn1202=)
 gnomAD v4
5g.37020782T>ACA359487773NIPBLc.5233T>A (p.Ser1745Thr)
c.1-43796T>A (n.1-43796T>A)
c.4489T>A (p.Ser1497Thr)
c.5035T>A (p.Ser1679Thr)
c.4852T>A (p.Ser1618Thr)
c.4573T>A (p.Ser1525Thr)
c.3616T>A (p.Ser1206Thr)
c.3607T>A (p.Ser1203Thr)
5g.37020782T>CCA359487770NIPBLc.5233T>C (p.Ser1745Pro)
c.1-43796T>C (n.1-43796T>C)
c.4489T>C (p.Ser1497Pro)
c.5035T>C (p.Ser1679Pro)
c.4852T>C (p.Ser1618Pro)
c.4573T>C (p.Ser1525Pro)
c.3616T>C (p.Ser1206Pro)
c.3607T>C (p.Ser1203Pro)
 dbSNP gnomAD v2 gnomAD v4
5g.37020782T>GCA359487766NIPBLc.5233T>G (p.Ser1745Ala)
c.1-43796T>G (n.1-43796T>G)
c.4489T>G (p.Ser1497Ala)
c.5035T>G (p.Ser1679Ala)
c.4852T>G (p.Ser1618Ala)
c.4573T>G (p.Ser1525Ala)
c.3616T>G (p.Ser1206Ala)
c.3607T>G (p.Ser1203Ala)
5g.37020782T=CA1539584520NIPBLc.5233T= (p.Ser1745=)
c.1-43796T= (n.1-43796T=)
c.4489T= (p.Ser1497=)
c.5035T= (p.Ser1679=)
c.4852T= (p.Ser1618=)
c.4573T= (p.Ser1525=)
c.3616T= (p.Ser1206=)
c.3607T= (p.Ser1203=)
5g.37020783C>ACA359487777NIPBLc.5234C>A (p.Ser1745Tyr)
c.1-43795C>A (n.1-43795C>A)
c.4490C>A (p.Ser1497Tyr)
c.5036C>A (p.Ser1679Tyr)
c.4853C>A (p.Ser1618Tyr)
c.4574C>A (p.Ser1525Tyr)
c.3617C>A (p.Ser1206Tyr)
c.3608C>A (p.Ser1203Tyr)
5g.37020783C>GCA359487780NIPBLc.5234C>G (p.Ser1745Cys)
c.1-43795C>G (n.1-43795C>G)
c.4490C>G (p.Ser1497Cys)
c.5036C>G (p.Ser1679Cys)
c.4853C>G (p.Ser1618Cys)
c.4574C>G (p.Ser1525Cys)
c.3617C>G (p.Ser1206Cys)
c.3608C>G (p.Ser1203Cys)
5g.37020783C>TCA359487781NIPBLc.5234C>T (p.Ser1745Phe)
c.1-43795C>T (n.1-43795C>T)
c.4490C>T (p.Ser1497Phe)
c.5036C>T (p.Ser1679Phe)
c.4853C>T (p.Ser1618Phe)
c.4574C>T (p.Ser1525Phe)
c.3617C>T (p.Ser1206Phe)
c.3608C>T (p.Ser1203Phe)
5g.37020784T>ACA443905152NIPBLc.5235T>A (p.Ser1745=)
c.1-43794T>A (n.1-43794T>A)
c.4491T>A (p.Ser1497=)
c.5037T>A (p.Ser1679=)
c.4854T>A (p.Ser1618=)
c.4575T>A (p.Ser1525=)
c.3618T>A (p.Ser1206=)
c.3609T>A (p.Ser1203=)
5g.37020784T>CCA443905155NIPBLc.5235T>C (p.Ser1745=)
c.1-43794T>C (n.1-43794T>C)
c.4491T>C (p.Ser1497=)
c.5037T>C (p.Ser1679=)
c.4854T>C (p.Ser1618=)
c.4575T>C (p.Ser1525=)
c.3618T>C (p.Ser1206=)
c.3609T>C (p.Ser1203=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.37020784T>GCA443905156NIPBLc.5235T>G (p.Ser1745=)
c.1-43794T>G (n.1-43794T>G)
c.4491T>G (p.Ser1497=)
c.5037T>G (p.Ser1679=)
c.4854T>G (p.Ser1618=)
c.4575T>G (p.Ser1525=)
c.3618T>G (p.Ser1206=)
c.3609T>G (p.Ser1203=)
5g.37020784T=CA1539584523NIPBLc.5235T= (p.Ser1745=)
c.1-43794T= (n.1-43794T=)
c.4491T= (p.Ser1497=)
c.5037T= (p.Ser1679=)
c.4854T= (p.Ser1618=)
c.4575T= (p.Ser1525=)
c.3618T= (p.Ser1206=)
c.3609T= (p.Ser1203=)
5g.37020785G>ACA359487782NIPBLc.5236G>A (p.Asp1746Asn)
c.1-43793G>A (n.1-43793G>A)
c.4492G>A (p.Asp1498Asn)
c.5038G>A (p.Asp1680Asn)
c.4855G>A (p.Asp1619Asn)
c.4576G>A (p.Asp1526Asn)
c.3619G>A (p.Asp1207Asn)
c.3610G>A (p.Asp1204Asn)
5g.37020785G>CCA359487783NIPBLc.5236G>C (p.Asp1746His)
c.1-43793G>C (n.1-43793G>C)
c.4492G>C (p.Asp1498His)
c.5038G>C (p.Asp1680His)
c.4855G>C (p.Asp1619His)
c.4576G>C (p.Asp1526His)
c.3619G>C (p.Asp1207His)
c.3610G>C (p.Asp1204His)
 gnomAD v4
5g.37020785G>TCA359487785NIPBLc.5236G>T (p.Asp1746Tyr)
c.1-43793G>T (n.1-43793G>T)
c.4492G>T (p.Asp1498Tyr)
c.5038G>T (p.Asp1680Tyr)
c.4855G>T (p.Asp1619Tyr)
c.4576G>T (p.Asp1526Tyr)
c.3619G>T (p.Asp1207Tyr)
c.3610G>T (p.Asp1204Tyr)
5g.37020786A>CCA359487788NIPBLc.5237A>C (p.Asp1746Ala)
c.1-43792A>C (n.1-43792A>C)
c.4493A>C (p.Asp1498Ala)
c.5039A>C (p.Asp1680Ala)
c.4856A>C (p.Asp1619Ala)
c.4577A>C (p.Asp1526Ala)
c.3620A>C (p.Asp1207Ala)
c.3611A>C (p.Asp1204Ala)
 dbSNP
5g.37020786A>GCA359487794NIPBLc.5237A>G (p.Asp1746Gly)
c.1-43792A>G (n.1-43792A>G)
c.4493A>G (p.Asp1498Gly)
c.5039A>G (p.Asp1680Gly)
c.4856A>G (p.Asp1619Gly)
c.4577A>G (p.Asp1526Gly)
c.3620A>G (p.Asp1207Gly)
c.3611A>G (p.Asp1204Gly)
5g.37020786A>TCA359487790NIPBLc.5237A>T (p.Asp1746Val)
c.1-43792A>T (n.1-43792A>T)
c.4493A>T (p.Asp1498Val)
c.5039A>T (p.Asp1680Val)
c.4856A>T (p.Asp1619Val)
c.4577A>T (p.Asp1526Val)
c.3620A>T (p.Asp1207Val)
c.3611A>T (p.Asp1204Val)
5g.37020787T>ACA359487796NIPBLc.5238T>A (p.Asp1746Glu)
c.1-43791T>A (n.1-43791T>A)
c.4494T>A (p.Asp1498Glu)
c.5040T>A (p.Asp1680Glu)
c.4857T>A (p.Asp1619Glu)
c.4578T>A (p.Asp1526Glu)
c.3621T>A (p.Asp1207Glu)
c.3612T>A (p.Asp1204Glu)
5g.37020787T>CCA443905158NIPBLc.5238T>C (p.Asp1746=)
c.1-43791T>C (n.1-43791T>C)
c.4494T>C (p.Asp1498=)
c.5040T>C (p.Asp1680=)
c.4857T>C (p.Asp1619=)
c.4578T>C (p.Asp1526=)
c.3621T>C (p.Asp1207=)
c.3612T>C (p.Asp1204=)
5g.37020787T>GCA359487799NIPBLc.5238T>G (p.Asp1746Glu)
c.1-43791T>G (n.1-43791T>G)
c.4494T>G (p.Asp1498Glu)
c.5040T>G (p.Asp1680Glu)
c.4857T>G (p.Asp1619Glu)
c.4578T>G (p.Asp1526Glu)
c.3621T>G (p.Asp1207Glu)
c.3612T>G (p.Asp1204Glu)
5g.37020788A=CA1539584525NIPBLc.5239A= (p.Thr1747=)
c.1-43790A= (n.1-43790A=)
c.4495A= (p.Thr1499=)
c.5041A= (p.Thr1681=)
c.4858A= (p.Thr1620=)
c.4579A= (p.Thr1527=)
c.3622A= (p.Thr1208=)
c.3613A= (p.Thr1205=)
5g.37020788A>CCA359487803NIPBLc.5239A>C (p.Thr1747Pro)
c.1-43790A>C (n.1-43790A>C)
c.4495A>C (p.Thr1499Pro)
c.5041A>C (p.Thr1681Pro)
c.4858A>C (p.Thr1620Pro)
c.4579A>C (p.Thr1527Pro)
c.3622A>C (p.Thr1208Pro)
c.3613A>C (p.Thr1205Pro)
5g.37020788A>GCA359487806NIPBLc.5239A>G (p.Thr1747Ala)
c.1-43790A>G (n.1-43790A>G)
c.4495A>G (p.Thr1499Ala)
c.5041A>G (p.Thr1681Ala)
c.4858A>G (p.Thr1620Ala)
c.4579A>G (p.Thr1527Ala)
c.3622A>G (p.Thr1208Ala)
c.3613A>G (p.Thr1205Ala)
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.37020788A>TCA359487815NIPBLc.5239A>T (p.Thr1747Ser)
c.1-43790A>T (n.1-43790A>T)
c.4495A>T (p.Thr1499Ser)
c.5041A>T (p.Thr1681Ser)
c.4858A>T (p.Thr1620Ser)
c.4579A>T (p.Thr1527Ser)
c.3622A>T (p.Thr1208Ser)
c.3613A>T (p.Thr1205Ser)
5g.37020789C>ACA359487829NIPBLc.5240C>A (p.Thr1747Asn)
c.1-43789C>A (n.1-43789C>A)
c.4496C>A (p.Thr1499Asn)
c.5042C>A (p.Thr1681Asn)
c.4859C>A (p.Thr1620Asn)
c.4580C>A (p.Thr1527Asn)
c.3623C>A (p.Thr1208Asn)
c.3614C>A (p.Thr1205Asn)
5g.37020789C>GCA359487832NIPBLc.5240C>G (p.Thr1747Ser)
c.1-43789C>G (n.1-43789C>G)
c.4496C>G (p.Thr1499Ser)
c.5042C>G (p.Thr1681Ser)
c.4859C>G (p.Thr1620Ser)
c.4580C>G (p.Thr1527Ser)
c.3623C>G (p.Thr1208Ser)
c.3614C>G (p.Thr1205Ser)
 gnomAD v4
5g.37020789C>TCA359487834NIPBLc.5240C>T (p.Thr1747Ile)
c.1-43789C>T (n.1-43789C>T)
c.4496C>T (p.Thr1499Ile)
c.5042C>T (p.Thr1681Ile)
c.4859C>T (p.Thr1620Ile)
c.4580C>T (p.Thr1527Ile)
c.3623C>T (p.Thr1208Ile)
c.3614C>T (p.Thr1205Ile)
 gnomAD v4 COSMIC COSMIC
5g.37020790T>ACA443905161NIPBLc.5241T>A (p.Thr1747=)
c.1-43788T>A (n.1-43788T>A)
c.4497T>A (p.Thr1499=)
c.5043T>A (p.Thr1681=)
c.4860T>A (p.Thr1620=)
c.4581T>A (p.Thr1527=)
c.3624T>A (p.Thr1208=)
c.3615T>A (p.Thr1205=)
 gnomAD v4
5g.37020790T>CCA3236737NIPBLc.5241T>C (p.Thr1747=)
c.1-43788T>C (n.1-43788T>C)
c.4497T>C (p.Thr1499=)
c.5043T>C (p.Thr1681=)
c.4860T>C (p.Thr1620=)
c.4581T>C (p.Thr1527=)
c.3624T>C (p.Thr1208=)
c.3615T>C (p.Thr1205=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.37020790T>GCA3236736NIPBLc.5241T>G (p.Thr1747=)
c.1-43788T>G (n.1-43788T>G)
c.4497T>G (p.Thr1499=)
c.5043T>G (p.Thr1681=)
c.4860T>G (p.Thr1620=)
c.4581T>G (p.Thr1527=)
c.3624T>G (p.Thr1208=)
c.3615T>G (p.Thr1205=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.37020790T=CA1539584533NIPBLc.5241T= (p.Thr1747=)
c.1-43788T= (n.1-43788T=)
c.4497T= (p.Thr1499=)
c.5043T= (p.Thr1681=)
c.4860T= (p.Thr1620=)
c.4581T= (p.Thr1527=)
c.3624T= (p.Thr1208=)
c.3615T= (p.Thr1205=)
5g.37020791G>ACA359487839NIPBLc.5242G>A (p.Val1748Met)
c.1-43787G>A (n.1-43787G>A)
c.4498G>A (p.Val1500Met)
c.5044G>A (p.Val1682Met)
c.4861G>A (p.Val1621Met)
c.4582G>A (p.Val1528Met)
c.3625G>A (p.Val1209Met)
c.3616G>A (p.Val1206Met)
5g.37020791G>CCA359487844NIPBLc.5242G>C (p.Val1748Leu)
c.1-43787G>C (n.1-43787G>C)
c.4498G>C (p.Val1500Leu)
c.5044G>C (p.Val1682Leu)
c.4861G>C (p.Val1621Leu)
c.4582G>C (p.Val1528Leu)
c.3625G>C (p.Val1209Leu)
c.3616G>C (p.Val1206Leu)
5g.37020791G>TCA359487842NIPBLc.5242G>T (p.Val1748Leu)
c.1-43787G>T (n.1-43787G>T)
c.4498G>T (p.Val1500Leu)
c.5044G>T (p.Val1682Leu)
c.4861G>T (p.Val1621Leu)
c.4582G>T (p.Val1528Leu)
c.3625G>T (p.Val1209Leu)
c.3616G>T (p.Val1206Leu)
5g.37020792T>ACA359487846NIPBLc.5243T>A (p.Val1748Glu)
c.1-43786T>A (n.1-43786T>A)
c.4499T>A (p.Val1500Glu)
c.5045T>A (p.Val1682Glu)
c.4862T>A (p.Val1621Glu)
c.4583T>A (p.Val1528Glu)
c.3626T>A (p.Val1209Glu)
c.3617T>A (p.Val1206Glu)
 gnomAD v4
5g.37020792T>CCA359487848NIPBLc.5243T>C (p.Val1748Ala)
c.1-43786T>C (n.1-43786T>C)
c.4499T>C (p.Val1500Ala)
c.5045T>C (p.Val1682Ala)
c.4862T>C (p.Val1621Ala)
c.4583T>C (p.Val1528Ala)
c.3626T>C (p.Val1209Ala)
c.3617T>C (p.Val1206Ala)
5g.37020792T>GCA359487847NIPBLc.5243T>G (p.Val1748Gly)
c.1-43786T>G (n.1-43786T>G)
c.4499T>G (p.Val1500Gly)
c.5045T>G (p.Val1682Gly)
c.4862T>G (p.Val1621Gly)
c.4583T>G (p.Val1528Gly)
c.3626T>G (p.Val1209Gly)
c.3617T>G (p.Val1206Gly)
5g.37020793G>ACA443905165NIPBLc.5244G>A (p.Val1748=)
c.1-43785G>A (n.1-43785G>A)
c.4500G>A (p.Val1500=)
c.5046G>A (p.Val1682=)
c.4863G>A (p.Val1621=)
c.4584G>A (p.Val1528=)
c.3627G>A (p.Val1209=)
c.3618G>A (p.Val1206=)
5g.37020793G>CCA443905166NIPBLc.5244G>C (p.Val1748=)
c.1-43785G>C (n.1-43785G>C)
c.4500G>C (p.Val1500=)
c.5046G>C (p.Val1682=)
c.4863G>C (p.Val1621=)
c.4584G>C (p.Val1528=)
c.3627G>C (p.Val1209=)
c.3618G>C (p.Val1206=)
5g.37020793G>TCA443905167NIPBLc.5244G>T (p.Val1748=)
c.1-43785G>T (n.1-43785G>T)
c.4500G>T (p.Val1500=)
c.5046G>T (p.Val1682=)
c.4863G>T (p.Val1621=)
c.4584G>T (p.Val1528=)
c.3627G>T (p.Val1209=)
c.3618G>T (p.Val1206=)
5g.37020794G>ACA3236738NIPBLc.5245G>A (p.Asp1749Asn)
c.1-43784G>A (n.1-43784G>A)
c.4501G>A (p.Asp1501Asn)
c.5047G>A (p.Asp1683Asn)
c.4864G>A (p.Asp1622Asn)
c.4585G>A (p.Asp1529Asn)
c.3628G>A (p.Asp1210Asn)
c.3619G>A (p.Asp1207Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.37020794G>CCA359487853NIPBLc.5245G>C (p.Asp1749His)
c.1-43784G>C (n.1-43784G>C)
c.4501G>C (p.Asp1501His)
c.5047G>C (p.Asp1683His)
c.4864G>C (p.Asp1622His)
c.4585G>C (p.Asp1529His)
c.3628G>C (p.Asp1210His)
c.3619G>C (p.Asp1207His)
5g.37020794G=CA1539584541NIPBLc.5245G= (p.Asp1749=)
c.1-43784G= (n.1-43784G=)
c.4501G= (p.Asp1501=)
c.5047G= (p.Asp1683=)
c.4864G= (p.Asp1622=)
c.4585G= (p.Asp1529=)
c.3628G= (p.Asp1210=)
c.3619G= (p.Asp1207=)
5g.37020794G>TCA359487857NIPBLc.5245G>T (p.Asp1749Tyr)
c.1-43784G>T (n.1-43784G>T)
c.4501G>T (p.Asp1501Tyr)
c.5047G>T (p.Asp1683Tyr)
c.4864G>T (p.Asp1622Tyr)
c.4585G>T (p.Asp1529Tyr)
c.3628G>T (p.Asp1210Tyr)
c.3619G>T (p.Asp1207Tyr)
5g.37020795A>CCA359487862NIPBLc.5246A>C (p.Asp1749Ala)
c.1-43783A>C (n.1-43783A>C)
c.4502A>C (p.Asp1501Ala)
c.5048A>C (p.Asp1683Ala)
c.4865A>C (p.Asp1622Ala)
c.4586A>C (p.Asp1529Ala)
c.3629A>C (p.Asp1210Ala)
c.3620A>C (p.Asp1207Ala)
5g.37020795A>GCA359487870NIPBLc.5246A>G (p.Asp1749Gly)
c.1-43783A>G (n.1-43783A>G)
c.4502A>G (p.Asp1501Gly)
c.5048A>G (p.Asp1683Gly)
c.4865A>G (p.Asp1622Gly)
c.4586A>G (p.Asp1529Gly)
c.3629A>G (p.Asp1210Gly)
c.3620A>G (p.Asp1207Gly)
5g.37020795A>TCA359487874NIPBLc.5246A>T (p.Asp1749Val)
c.1-43783A>T (n.1-43783A>T)
c.4502A>T (p.Asp1501Val)
c.5048A>T (p.Asp1683Val)
c.4865A>T (p.Asp1622Val)
c.4586A>T (p.Asp1529Val)
c.3629A>T (p.Asp1210Val)
c.3620A>T (p.Asp1207Val)
5g.37020796C>ACA359487876NIPBLc.5247C>A (p.Asp1749Glu)
c.1-43782C>A (n.1-43782C>A)
c.4503C>A (p.Asp1501Glu)
c.5049C>A (p.Asp1683Glu)
c.4866C>A (p.Asp1622Glu)
c.4587C>A (p.Asp1529Glu)
c.3630C>A (p.Asp1210Glu)
c.3621C>A (p.Asp1207Glu)
5g.37020796C=CA1539584561NIPBLc.5247C= (p.Asp1749=)
c.1-43782C= (n.1-43782C=)
c.4503C= (p.Asp1501=)
c.5049C= (p.Asp1683=)
c.4866C= (p.Asp1622=)
c.4587C= (p.Asp1529=)
c.3630C= (p.Asp1210=)
c.3621C= (p.Asp1207=)
5g.37020796C>GCA359487878NIPBLc.5247C>G (p.Asp1749Glu)
c.1-43782C>G (n.1-43782C>G)
c.4503C>G (p.Asp1501Glu)
c.5049C>G (p.Asp1683Glu)
c.4866C>G (p.Asp1622Glu)
c.4587C>G (p.Asp1529Glu)
c.3630C>G (p.Asp1210Glu)
c.3621C>G (p.Asp1207Glu)
 dbSNP gnomAD v3 gnomAD v4
5g.37020796C>TCA443905171NIPBLc.5247C>T (p.Asp1749=)
c.1-43782C>T (n.1-43782C>T)
c.4503C>T (p.Asp1501=)
c.5049C>T (p.Asp1683=)
c.4866C>T (p.Asp1622=)
c.4587C>T (p.Asp1529=)
c.3630C>T (p.Asp1210=)
c.3621C>T (p.Asp1207=)
 dbSNP gnomAD v2 gnomAD v4
5g.37020797T>ACA359487883NIPBLc.5248T>A (p.Tyr1750Asn)
c.1-43781T>A (n.1-43781T>A)
c.4504T>A (p.Tyr1502Asn)
c.5050T>A (p.Tyr1684Asn)
c.4867T>A (p.Tyr1623Asn)
c.4588T>A (p.Tyr1530Asn)
c.3631T>A (p.Tyr1211Asn)
c.3622T>A (p.Tyr1208Asn)
5g.37020797T>CCA359487889NIPBLc.5248T>C (p.Tyr1750His)
c.1-43781T>C (n.1-43781T>C)
c.4504T>C (p.Tyr1502His)
c.5050T>C (p.Tyr1684His)
c.4867T>C (p.Tyr1623His)
c.4588T>C (p.Tyr1530His)
c.3631T>C (p.Tyr1211His)
c.3622T>C (p.Tyr1208His)
 gnomAD v4
5g.37020797T>GCA359487892NIPBLc.5248T>G (p.Tyr1750Asp)
c.1-43781T>G (n.1-43781T>G)
c.4504T>G (p.Tyr1502Asp)
c.5050T>G (p.Tyr1684Asp)
c.4867T>G (p.Tyr1623Asp)
c.4588T>G (p.Tyr1530Asp)
c.3631T>G (p.Tyr1211Asp)
c.3622T>G (p.Tyr1208Asp)
5g.37020798A=CA1539584572NIPBLc.5249A= (p.Tyr1750=)
c.1-43780A= (n.1-43780A=)
c.4505A= (p.Tyr1502=)
c.5051A= (p.Tyr1684=)
c.4868A= (p.Tyr1623=)
c.4589A= (p.Tyr1530=)
c.3632A= (p.Tyr1211=)
c.3623A= (p.Tyr1208=)
5g.37020798A>CCA359487899NIPBLc.5249A>C (p.Tyr1750Ser)
c.1-43780A>C (n.1-43780A>C)
c.4505A>C (p.Tyr1502Ser)
c.5051A>C (p.Tyr1684Ser)
c.4868A>C (p.Tyr1623Ser)
c.4589A>C (p.Tyr1530Ser)
c.3632A>C (p.Tyr1211Ser)
c.3623A>C (p.Tyr1208Ser)
5g.37020798A>GCA242800NIPBLc.5249A>G (p.Tyr1750Cys)
c.1-43780A>G (n.1-43780A>G)
c.4505A>G (p.Tyr1502Cys)
c.5051A>G (p.Tyr1684Cys)
c.4868A>G (p.Tyr1623Cys)
c.4589A>G (p.Tyr1530Cys)
c.3632A>G (p.Tyr1211Cys)
c.3623A>G (p.Tyr1208Cys)
 ClinVar dbSNP ExAC
5g.37020798A>TCA117028138NIPBLc.5249A>T (p.Tyr1750Phe)
c.1-43780A>T (n.1-43780A>T)
c.4505A>T (p.Tyr1502Phe)
c.5051A>T (p.Tyr1684Phe)
c.4868A>T (p.Tyr1623Phe)
c.4589A>T (p.Tyr1530Phe)
c.3632A>T (p.Tyr1211Phe)
c.3623A>T (p.Tyr1208Phe)
 dbSNP
5g.37020799T>ACA359487903NIPBLc.5250T>A (p.Tyr1750Ter)
c.1-43779T>A (n.1-43779T>A)
c.4506T>A (p.Tyr1502Ter)
c.5052T>A (p.Tyr1684Ter)
c.4869T>A (p.Tyr1623Ter)
c.4590T>A (p.Tyr1530Ter)
c.3633T>A (p.Tyr1211Ter)
c.3624T>A (p.Tyr1208Ter)
5g.37020799T>CCA443905176NIPBLc.5250T>C (p.Tyr1750=)
c.1-43779T>C (n.1-43779T>C)
c.4506T>C (p.Tyr1502=)
c.5052T>C (p.Tyr1684=)
c.4869T>C (p.Tyr1623=)
c.4590T>C (p.Tyr1530=)
c.3633T>C (p.Tyr1211=)
c.3624T>C (p.Tyr1208=)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
5g.37020799T>GCA359487904NIPBLc.5250T>G (p.Tyr1750Ter)
c.1-43779T>G (n.1-43779T>G)
c.4506T>G (p.Tyr1502Ter)
c.5052T>G (p.Tyr1684Ter)
c.4869T>G (p.Tyr1623Ter)
c.4590T>G (p.Tyr1530Ter)
c.3633T>G (p.Tyr1211Ter)
c.3624T>G (p.Tyr1208Ter)
5g.37020799T=CA1539584590NIPBLc.5250T= (p.Tyr1750=)
c.1-43779T= (n.1-43779T=)
c.4506T= (p.Tyr1502=)
c.5052T= (p.Tyr1684=)
c.4869T= (p.Tyr1623=)
c.4590T= (p.Tyr1530=)
c.3633T= (p.Tyr1211=)
c.3624T= (p.Tyr1208=)
5g.37020800G>ACA359487908NIPBLc.5251G>A (p.Asp1751Asn)
c.1-43778G>A (n.1-43778G>A)
c.4507G>A (p.Asp1503Asn)
c.5053G>A (p.Asp1685Asn)
c.4870G>A (p.Asp1624Asn)
c.4591G>A (p.Asp1531Asn)
c.3634G>A (p.Asp1212Asn)
c.3625G>A (p.Asp1209Asn)
 COSMIC COSMIC
5g.37020800G>CCA359487912NIPBLc.5251G>C (p.Asp1751His)
c.1-43778G>C (n.1-43778G>C)
c.4507G>C (p.Asp1503His)
c.5053G>C (p.Asp1685His)
c.4870G>C (p.Asp1624His)
c.4591G>C (p.Asp1531His)
c.3634G>C (p.Asp1212His)
c.3625G>C (p.Asp1209His)
5g.37020800G>TCA359487913NIPBLc.5251G>T (p.Asp1751Tyr)
c.1-43778G>T (n.1-43778G>T)
c.4507G>T (p.Asp1503Tyr)
c.5053G>T (p.Asp1685Tyr)
c.4870G>T (p.Asp1624Tyr)
c.4591G>T (p.Asp1531Tyr)
c.3634G>T (p.Asp1212Tyr)
c.3625G>T (p.Asp1209Tyr)
5g.37020801A>CCA359487914NIPBLc.5252A>C (p.Asp1751Ala)
c.1-43777A>C (n.1-43777A>C)
c.4508A>C (p.Asp1503Ala)
c.5054A>C (p.Asp1685Ala)
c.4871A>C (p.Asp1624Ala)
c.4592A>C (p.Asp1531Ala)
c.3635A>C (p.Asp1212Ala)
c.3626A>C (p.Asp1209Ala)
5g.37020801A>GCA359487915NIPBLc.5252A>G (p.Asp1751Gly)
c.1-43777A>G (n.1-43777A>G)
c.4508A>G (p.Asp1503Gly)
c.5054A>G (p.Asp1685Gly)
c.4871A>G (p.Asp1624Gly)
c.4592A>G (p.Asp1531Gly)
c.3635A>G (p.Asp1212Gly)
c.3626A>G (p.Asp1209Gly)
5g.37020801A>TCA359487916NIPBLc.5252A>T (p.Asp1751Val)
c.1-43777A>T (n.1-43777A>T)
c.4508A>T (p.Asp1503Val)
c.5054A>T (p.Asp1685Val)
c.4871A>T (p.Asp1624Val)
c.4592A>T (p.Asp1531Val)
c.3635A>T (p.Asp1212Val)
c.3626A>T (p.Asp1209Val)
5g.37020802T>ACA359487917NIPBLc.5253T>A (p.Asp1751Glu)
c.1-43776T>A (n.1-43776T>A)
c.4509T>A (p.Asp1503Glu)
c.5055T>A (p.Asp1685Glu)
c.4872T>A (p.Asp1624Glu)
c.4593T>A (p.Asp1531Glu)
c.3636T>A (p.Asp1212Glu)
c.3627T>A (p.Asp1209Glu)
5g.37020802T>CCA443905179NIPBLc.5253T>C (p.Asp1751=)
c.1-43776T>C (n.1-43776T>C)
c.4509T>C (p.Asp1503=)
c.5055T>C (p.Asp1685=)
c.4872T>C (p.Asp1624=)
c.4593T>C (p.Asp1531=)
c.3636T>C (p.Asp1212=)
c.3627T>C (p.Asp1209=)
5g.37020802T>GCA359487918NIPBLc.5253T>G (p.Asp1751Glu)
c.1-43776T>G (n.1-43776T>G)
c.4509T>G (p.Asp1503Glu)
c.5055T>G (p.Asp1685Glu)
c.4872T>G (p.Asp1624Glu)
c.4593T>G (p.Asp1531Glu)
c.3636T>G (p.Asp1212Glu)
c.3627T>G (p.Asp1209Glu)
5g.37020803G>ACA3236739NIPBLc.5254G>A (p.Asp1752Asn)
c.1-43775G>A (n.1-43775G>A)
c.4510G>A (p.Asp1504Asn)
c.5056G>A (p.Asp1686Asn)
c.4873G>A (p.Asp1625Asn)
c.4594G>A (p.Asp1532Asn)
c.3637G>A (p.Asp1213Asn)
c.3628G>A (p.Asp1210Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
5g.37020803G>CCA359487930NIPBLc.5254G>C (p.Asp1752His)
c.1-43775G>C (n.1-43775G>C)
c.4510G>C (p.Asp1504His)
c.5056G>C (p.Asp1686His)
c.4873G>C (p.Asp1625His)
c.4594G>C (p.Asp1532His)
c.3637G>C (p.Asp1213His)
c.3628G>C (p.Asp1210His)
5g.37020803G=CA1539584596NIPBLc.5254G= (p.Asp1752=)
c.1-43775G= (n.1-43775G=)
c.4510G= (p.Asp1504=)
c.5056G= (p.Asp1686=)
c.4873G= (p.Asp1625=)
c.4594G= (p.Asp1532=)
c.3637G= (p.Asp1213=)
c.3628G= (p.Asp1210=)
5g.37020803G>TCA359487925NIPBLc.5254G>T (p.Asp1752Tyr)
c.1-43775G>T (n.1-43775G>T)
c.4510G>T (p.Asp1504Tyr)
c.5056G>T (p.Asp1686Tyr)
c.4873G>T (p.Asp1625Tyr)
c.4594G>T (p.Asp1532Tyr)
c.3637G>T (p.Asp1213Tyr)
c.3628G>T (p.Asp1210Tyr)
5g.37020804A>CCA359487936NIPBLc.5255A>C (p.Asp1752Ala)
c.1-43774A>C (n.1-43774A>C)
c.4511A>C (p.Asp1504Ala)
c.5057A>C (p.Asp1686Ala)
c.4874A>C (p.Asp1625Ala)
c.4595A>C (p.Asp1532Ala)
c.3638A>C (p.Asp1213Ala)
c.3629A>C (p.Asp1210Ala)
5g.37020804A>GCA359487949NIPBLc.5255A>G (p.Asp1752Gly)
c.1-43774A>G (n.1-43774A>G)
c.4511A>G (p.Asp1504Gly)
c.5057A>G (p.Asp1686Gly)
c.4874A>G (p.Asp1625Gly)
c.4595A>G (p.Asp1532Gly)
c.3638A>G (p.Asp1213Gly)
c.3629A>G (p.Asp1210Gly)
5g.37020804A>TCA359487954NIPBLc.5255A>T (p.Asp1752Val)
c.1-43774A>T (n.1-43774A>T)
c.4511A>T (p.Asp1504Val)
c.5057A>T (p.Asp1686Val)
c.4874A>T (p.Asp1625Val)
c.4595A>T (p.Asp1532Val)
c.3638A>T (p.Asp1213Val)
c.3629A>T (p.Asp1210Val)
5g.37020805T>ACA359487957NIPBLc.5256T>A (p.Asp1752Glu)
c.1-43773T>A (n.1-43773T>A)
c.4512T>A (p.Asp1504Glu)
c.5058T>A (p.Asp1686Glu)
c.4875T>A (p.Asp1625Glu)
c.4596T>A (p.Asp1532Glu)
c.3639T>A (p.Asp1213Glu)
c.3630T>A (p.Asp1210Glu)
5g.37020805T>CCA443905183NIPBLc.5256T>C (p.Asp1752=)
c.1-43773T>C (n.1-43773T>C)
c.4512T>C (p.Asp1504=)
c.5058T>C (p.Asp1686=)
c.4875T>C (p.Asp1625=)
c.4596T>C (p.Asp1532=)
c.3639T>C (p.Asp1213=)
c.3630T>C (p.Asp1210=)
5g.37020805T>GCA359487963NIPBLc.5256T>G (p.Asp1752Glu)
c.1-43773T>G (n.1-43773T>G)
c.4512T>G (p.Asp1504Glu)
c.5058T>G (p.Asp1686Glu)
c.4875T>G (p.Asp1625Glu)
c.4596T>G (p.Asp1532Glu)
c.3639T>G (p.Asp1213Glu)
c.3630T>G (p.Asp1210Glu)
5g.37020806G>ACA359487991NIPBLc.5257G>A (p.Ala1753Thr)
c.1-43772G>A (n.1-43772G>A)
c.4513G>A (p.Ala1505Thr)
c.5059G>A (p.Ala1687Thr)
c.4876G>A (p.Ala1626Thr)
c.4597G>A (p.Ala1533Thr)
c.3640G>A (p.Ala1214Thr)
c.3631G>A (p.Ala1211Thr)
5g.37020806G>CCA359487990NIPBLc.5257G>C (p.Ala1753Pro)
c.1-43772G>C (n.1-43772G>C)
c.4513G>C (p.Ala1505Pro)
c.5059G>C (p.Ala1687Pro)
c.4876G>C (p.Ala1626Pro)
c.4597G>C (p.Ala1533Pro)
c.3640G>C (p.Ala1214Pro)
c.3631G>C (p.Ala1211Pro)
5g.37020806G>TCA359487965NIPBLc.5257G>T (p.Ala1753Ser)
c.1-43772G>T (n.1-43772G>T)
c.4513G>T (p.Ala1505Ser)
c.5059G>T (p.Ala1687Ser)
c.4876G>T (p.Ala1626Ser)
c.4597G>T (p.Ala1533Ser)
c.3640G>T (p.Ala1214Ser)
c.3631G>T (p.Ala1211Ser)
5g.37020807C>ACA359487994NIPBLc.5258C>A (p.Ala1753Asp)
c.1-43771C>A (n.1-43771C>A)
c.4514C>A (p.Ala1505Asp)
c.5060C>A (p.Ala1687Asp)
c.4877C>A (p.Ala1626Asp)
c.4598C>A (p.Ala1533Asp)
c.3641C>A (p.Ala1214Asp)
c.3632C>A (p.Ala1211Asp)
5g.37020807C=CA1539584616NIPBLc.5258C= (p.Ala1753=)
c.1-43771C= (n.1-43771C=)
c.4514C= (p.Ala1505=)
c.5060C= (p.Ala1687=)
c.4877C= (p.Ala1626=)
c.4598C= (p.Ala1533=)
c.3641C= (p.Ala1214=)
c.3632C= (p.Ala1211=)
5g.37020807C>GCA117028141NIPBLc.5258C>G (p.Ala1753Gly)
c.1-43771C>G (n.1-43771C>G)
c.4514C>G (p.Ala1505Gly)
c.5060C>G (p.Ala1687Gly)
c.4877C>G (p.Ala1626Gly)
c.4598C>G (p.Ala1533Gly)
c.3641C>G (p.Ala1214Gly)
c.3632C>G (p.Ala1211Gly)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.37020807C>TCA359488004NIPBLc.5258C>T (p.Ala1753Val)
c.1-43771C>T (n.1-43771C>T)
c.4514C>T (p.Ala1505Val)
c.5060C>T (p.Ala1687Val)
c.4877C>T (p.Ala1626Val)
c.4598C>T (p.Ala1533Val)
c.3641C>T (p.Ala1214Val)
c.3632C>T (p.Ala1211Val)
5g.37020808T>ACA443905187NIPBLc.5259T>A (p.Ala1753=)
c.1-43770T>A (n.1-43770T>A)
c.4515T>A (p.Ala1505=)
c.5061T>A (p.Ala1687=)
c.4878T>A (p.Ala1626=)
c.4599T>A (p.Ala1533=)
c.3642T>A (p.Ala1214=)
c.3633T>A (p.Ala1211=)
 gnomAD v4
5g.37020808T>CCA443905189NIPBLc.5259T>C (p.Ala1753=)
c.1-43770T>C (n.1-43770T>C)
c.4515T>C (p.Ala1505=)
c.5061T>C (p.Ala1687=)
c.4878T>C (p.Ala1626=)
c.4599T>C (p.Ala1533=)
c.3642T>C (p.Ala1214=)
c.3633T>C (p.Ala1211=)
5g.37020808T>GCA443905190NIPBLc.5259T>G (p.Ala1753=)
c.1-43770T>G (n.1-43770T>G)
c.4515T>G (p.Ala1505=)
c.5061T>G (p.Ala1687=)
c.4878T>G (p.Ala1626=)
c.4599T>G (p.Ala1533=)
c.3642T>G (p.Ala1214=)
c.3633T>G (p.Ala1211=)
5g.37020809T>ACA359488006NIPBLc.5260T>A (p.Cys1754Ser)
c.1-43769T>A (n.1-43769T>A)
c.4516T>A (p.Cys1506Ser)
c.5062T>A (p.Cys1688Ser)
c.4879T>A (p.Cys1627Ser)
c.4600T>A (p.Cys1534Ser)
c.3643T>A (p.Cys1215Ser)
c.3634T>A (p.Cys1212Ser)
5g.37020809T>CCA359488015NIPBLc.5260T>C (p.Cys1754Arg)
c.1-43769T>C (n.1-43769T>C)
c.4516T>C (p.Cys1506Arg)
c.5062T>C (p.Cys1688Arg)
c.4879T>C (p.Cys1627Arg)
c.4600T>C (p.Cys1534Arg)
c.3643T>C (p.Cys1215Arg)
c.3634T>C (p.Cys1212Arg)
5g.37020809T>GCA359488017NIPBLc.5260T>G (p.Cys1754Gly)
c.1-43769T>G (n.1-43769T>G)
c.4516T>G (p.Cys1506Gly)
c.5062T>G (p.Cys1688Gly)
c.4879T>G (p.Cys1627Gly)
c.4600T>G (p.Cys1534Gly)
c.3643T>G (p.Cys1215Gly)
c.3634T>G (p.Cys1212Gly)
5g.37020810G>ACA359488020NIPBLc.5261G>A (p.Cys1754Tyr)
c.1-43768G>A (n.1-43768G>A)
c.4517G>A (p.Cys1506Tyr)
c.5063G>A (p.Cys1688Tyr)
c.4880G>A (p.Cys1627Tyr)
c.4601G>A (p.Cys1534Tyr)
c.3644G>A (p.Cys1215Tyr)
c.3635G>A (p.Cys1212Tyr)
5g.37020810G>CCA359488026NIPBLc.5261G>C (p.Cys1754Ser)
c.1-43768G>C (n.1-43768G>C)
c.4517G>C (p.Cys1506Ser)
c.5063G>C (p.Cys1688Ser)
c.4880G>C (p.Cys1627Ser)
c.4601G>C (p.Cys1534Ser)
c.3644G>C (p.Cys1215Ser)
c.3635G>C (p.Cys1212Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.37020810G=CA1539584633NIPBLc.5261G= (p.Cys1754=)
c.1-43768G= (n.1-43768G=)
c.4517G= (p.Cys1506=)
c.5063G= (p.Cys1688=)
c.4880G= (p.Cys1627=)
c.4601G= (p.Cys1534=)
c.3644G= (p.Cys1215=)
c.3635G= (p.Cys1212=)
5g.37020810G>TCA359488025NIPBLc.5261G>T (p.Cys1754Phe)
c.1-43768G>T (n.1-43768G>T)
c.4517G>T (p.Cys1506Phe)
c.5063G>T (p.Cys1688Phe)
c.4880G>T (p.Cys1627Phe)
c.4601G>T (p.Cys1534Phe)
c.3644G>T (p.Cys1215Phe)
c.3635G>T (p.Cys1212Phe)
5g.37020811C>ACA359488029NIPBLc.5262C>A (p.Cys1754Ter)
c.1-43767C>A (n.1-43767C>A)
c.4518C>A (p.Cys1506Ter)
c.5064C>A (p.Cys1688Ter)
c.4881C>A (p.Cys1627Ter)
c.4602C>A (p.Cys1534Ter)
c.3645C>A (p.Cys1215Ter)
c.3636C>A (p.Cys1212Ter)
 ClinVar dbSNP
5g.37020811C=CA1539584641NIPBLc.5262C= (p.Cys1754=)
c.1-43767C= (n.1-43767C=)
c.4518C= (p.Cys1506=)
c.5064C= (p.Cys1688=)
c.4881C= (p.Cys1627=)
c.4602C= (p.Cys1534=)
c.3645C= (p.Cys1215=)
c.3636C= (p.Cys1212=)
5g.37020811C>GCA359488032NIPBLc.5262C>G (p.Cys1754Trp)
c.1-43767C>G (n.1-43767C>G)
c.4518C>G (p.Cys1506Trp)
c.5064C>G (p.Cys1688Trp)
c.4881C>G (p.Cys1627Trp)
c.4602C>G (p.Cys1534Trp)
c.3645C>G (p.Cys1215Trp)
c.3636C>G (p.Cys1212Trp)
5g.37020811C>TCA443905192NIPBLc.5262C>T (p.Cys1754=)
c.1-43767C>T (n.1-43767C>T)
c.4518C>T (p.Cys1506=)
c.5064C>T (p.Cys1688=)
c.4881C>T (p.Cys1627=)
c.4602C>T (p.Cys1534=)
c.3645C>T (p.Cys1215=)
c.3636C>T (p.Cys1212=)
5g.37020812T>ACA359488033NIPBLc.5263T>A (p.Leu1755Met)
c.1-43766T>A (n.1-43766T>A)
c.4519T>A (p.Leu1507Met)
c.5065T>A (p.Leu1689Met)
c.4882T>A (p.Leu1628Met)
c.4603T>A (p.Leu1535Met)
c.3646T>A (p.Leu1216Met)
c.3637T>A (p.Leu1213Met)
5g.37020812T>CCA443905193NIPBLc.5263T>C (p.Leu1755=)
c.1-43766T>C (n.1-43766T>C)
c.4519T>C (p.Leu1507=)
c.5065T>C (p.Leu1689=)
c.4882T>C (p.Leu1628=)
c.4603T>C (p.Leu1535=)
c.3646T>C (p.Leu1216=)
c.3637T>C (p.Leu1213=)
5g.37020812T>GCA359488034NIPBLc.5263T>G (p.Leu1755Val)
c.1-43766T>G (n.1-43766T>G)
c.4519T>G (p.Leu1507Val)
c.5065T>G (p.Leu1689Val)
c.4882T>G (p.Leu1628Val)
c.4603T>G (p.Leu1535Val)
c.3646T>G (p.Leu1216Val)
c.3637T>G (p.Leu1213Val)
5g.37020813T>ACA359488035NIPBLc.5264T>A (p.Leu1755Ter)
c.1-43765T>A (n.1-43765T>A)
c.4520T>A (p.Leu1507Ter)
c.5066T>A (p.Leu1689Ter)
c.4883T>A (p.Leu1628Ter)
c.4604T>A (p.Leu1535Ter)
c.3647T>A (p.Leu1216Ter)
c.3638T>A (p.Leu1213Ter)
5g.37020813T>CCA359488038NIPBLc.5264T>C (p.Leu1755Ser)
c.1-43765T>C (n.1-43765T>C)
c.4520T>C (p.Leu1507Ser)
c.5066T>C (p.Leu1689Ser)
c.4883T>C (p.Leu1628Ser)
c.4604T>C (p.Leu1535Ser)
c.3647T>C (p.Leu1216Ser)
c.3638T>C (p.Leu1213Ser)
5g.37020813T>GCA359488039NIPBLc.5264T>G (p.Leu1755Trp)
c.1-43765T>G (n.1-43765T>G)
c.4520T>G (p.Leu1507Trp)
c.5066T>G (p.Leu1689Trp)
c.4883T>G (p.Leu1628Trp)
c.4604T>G (p.Leu1535Trp)
c.3647T>G (p.Leu1216Trp)
c.3638T>G (p.Leu1213Trp)
5g.37020814G>ACA443905195NIPBLc.5265G>A (p.Leu1755=)
c.1-43764G>A (n.1-43764G>A)
c.4521G>A (p.Leu1507=)
c.5067G>A (p.Leu1689=)
c.4884G>A (p.Leu1628=)
c.4605G>A (p.Leu1535=)
c.3648G>A (p.Leu1216=)
c.3639G>A (p.Leu1213=)
 dbSNP gnomAD v2 gnomAD v4
5g.37020814G>CCA359488046NIPBLc.5265G>C (p.Leu1755Phe)
c.1-43764G>C (n.1-43764G>C)
c.4521G>C (p.Leu1507Phe)
c.5067G>C (p.Leu1689Phe)
c.4884G>C (p.Leu1628Phe)
c.4605G>C (p.Leu1535Phe)
c.3648G>C (p.Leu1216Phe)
c.3639G>C (p.Leu1213Phe)
5g.37020814G=CA1539584652NIPBLc.5265G= (p.Leu1755=)
c.1-43764G= (n.1-43764G=)
c.4521G= (p.Leu1507=)
c.5067G= (p.Leu1689=)
c.4884G= (p.Leu1628=)
c.4605G= (p.Leu1535=)
c.3648G= (p.Leu1216=)
c.3639G= (p.Leu1213=)
5g.37020814G>TCA359488047NIPBLc.5265G>T (p.Leu1755Phe)
c.1-43764G>T (n.1-43764G>T)
c.4521G>T (p.Leu1507Phe)
c.5067G>T (p.Leu1689Phe)
c.4884G>T (p.Leu1628Phe)
c.4605G>T (p.Leu1535Phe)
c.3648G>T (p.Leu1216Phe)
c.3639G>T (p.Leu1213Phe)
5g.37020815A>CCA359488055NIPBLc.5266A>C (p.Ile1756Leu)
c.1-43763A>C (n.1-43763A>C)
c.4522A>C (p.Ile1508Leu)
c.5068A>C (p.Ile1690Leu)
c.4885A>C (p.Ile1629Leu)
c.4606A>C (p.Ile1536Leu)
c.3649A>C (p.Ile1217Leu)
c.3640A>C (p.Ile1214Leu)
5g.37020815A>GCA359488057NIPBLc.5266A>G (p.Ile1756Val)
c.1-43763A>G (n.1-43763A>G)
c.4522A>G (p.Ile1508Val)
c.5068A>G (p.Ile1690Val)
c.4885A>G (p.Ile1629Val)
c.4606A>G (p.Ile1536Val)
c.3649A>G (p.Ile1217Val)
c.3640A>G (p.Ile1214Val)
 ClinVar
5g.37020815A>TCA359488068NIPBLc.5266A>T (p.Ile1756Phe)
c.1-43763A>T (n.1-43763A>T)
c.4522A>T (p.Ile1508Phe)
c.5068A>T (p.Ile1690Phe)
c.4885A>T (p.Ile1629Phe)
c.4606A>T (p.Ile1536Phe)
c.3649A>T (p.Ile1217Phe)
c.3640A>T (p.Ile1214Phe)
5g.37020816T>ACA359488077NIPBLc.5267T>A (p.Ile1756Asn)
c.1-43762T>A (n.1-43762T>A)
c.4523T>A (p.Ile1508Asn)
c.5069T>A (p.Ile1690Asn)
c.4886T>A (p.Ile1629Asn)
c.4607T>A (p.Ile1536Asn)
c.3650T>A (p.Ile1217Asn)
c.3641T>A (p.Ile1214Asn)
5g.37020816T>CCA359488082NIPBLc.5267T>C (p.Ile1756Thr)
c.1-43762T>C (n.1-43762T>C)
c.4523T>C (p.Ile1508Thr)
c.5069T>C (p.Ile1690Thr)
c.4886T>C (p.Ile1629Thr)
c.4607T>C (p.Ile1536Thr)
c.3650T>C (p.Ile1217Thr)
c.3641T>C (p.Ile1214Thr)
 gnomAD v4
5g.37020816T>GCA359488072NIPBLc.5267T>G (p.Ile1756Ser)
c.1-43762T>G (n.1-43762T>G)
c.4523T>G (p.Ile1508Ser)
c.5069T>G (p.Ile1690Ser)
c.4886T>G (p.Ile1629Ser)
c.4607T>G (p.Ile1536Ser)
c.3650T>G (p.Ile1217Ser)
c.3641T>G (p.Ile1214Ser)
5g.37020817T>ACA443905198NIPBLc.5268T>A (p.Ile1756=)
c.1-43761T>A (n.1-43761T>A)
c.4524T>A (p.Ile1508=)
c.5070T>A (p.Ile1690=)
c.4887T>A (p.Ile1629=)
c.4608T>A (p.Ile1536=)
c.3651T>A (p.Ile1217=)
c.3642T>A (p.Ile1214=)
 dbSNP gnomAD v2 gnomAD v4
5g.37020817T>CCA443905199NIPBLc.5268T>C (p.Ile1756=)
c.1-43761T>C (n.1-43761T>C)
c.4524T>C (p.Ile1508=)
c.5070T>C (p.Ile1690=)
c.4887T>C (p.Ile1629=)
c.4608T>C (p.Ile1536=)
c.3651T>C (p.Ile1217=)
c.3642T>C (p.Ile1214=)
5g.37020817T>GCA359488087NIPBLc.5268T>G (p.Ile1756Met)
c.1-43761T>G (n.1-43761T>G)
c.4524T>G (p.Ile1508Met)
c.5070T>G (p.Ile1690Met)
c.4887T>G (p.Ile1629Met)
c.4608T>G (p.Ile1536Met)
c.3651T>G (p.Ile1217Met)
c.3642T>G (p.Ile1214Met)
5g.37020817T=CA1539584662NIPBLc.5268T= (p.Ile1756=)
c.1-43761T= (n.1-43761T=)
c.4524T= (p.Ile1508=)
c.5070T= (p.Ile1690=)
c.4887T= (p.Ile1629=)
c.4608T= (p.Ile1536=)
c.3651T= (p.Ile1217=)
c.3642T= (p.Ile1214=)
5g.37020818delCA2499217839NIPBLc.5269del (p.Val1757PhefsTer7)
c.1-43760del (n.1-43760del)
c.4525del (p.Val1509PhefsTer7)
c.5071del (p.Val1691PhefsTer7)
c.4888del (p.Val1630PhefsTer7)
c.4609del (p.Val1537PhefsTer7)
c.3652del (p.Val1218PhefsTer7)
c.3643del (p.Val1215PhefsTer7)
 ClinVar dbSNP
5g.37020818G>ACA359488088NIPBLc.5269G>A (p.Val1757Ile)
c.1-43760G>A (n.1-43760G>A)
c.4525G>A (p.Val1509Ile)
c.5071G>A (p.Val1691Ile)
c.4888G>A (p.Val1630Ile)
c.4609G>A (p.Val1537Ile)
c.3652G>A (p.Val1218Ile)
c.3643G>A (p.Val1215Ile)
 dbSNP
5g.37020818G>CCA359488089NIPBLc.5269G>C (p.Val1757Leu)
c.1-43760G>C (n.1-43760G>C)
c.4525G>C (p.Val1509Leu)
c.5071G>C (p.Val1691Leu)
c.4888G>C (p.Val1630Leu)
c.4609G>C (p.Val1537Leu)
c.3652G>C (p.Val1218Leu)
c.3643G>C (p.Val1215Leu)
5g.37020818G=CA1539584674NIPBLc.5269G= (p.Val1757=)
c.1-43760G= (n.1-43760G=)
c.4525G= (p.Val1509=)
c.5071G= (p.Val1691=)
c.4888G= (p.Val1630=)
c.4609G= (p.Val1537=)
c.3652G= (p.Val1218=)
c.3643G= (p.Val1215=)
5g.37020818G>TCA359488090NIPBLc.5269G>T (p.Val1757Phe)
c.1-43760G>T (n.1-43760G>T)
c.4525G>T (p.Val1509Phe)
c.5071G>T (p.Val1691Phe)
c.4888G>T (p.Val1630Phe)
c.4609G>T (p.Val1537Phe)
c.3652G>T (p.Val1218Phe)
c.3643G>T (p.Val1215Phe)
5g.37020819T>ACA359488091NIPBLc.5270T>A (p.Val1757Asp)
c.1-43759T>A (n.1-43759T>A)
c.4526T>A (p.Val1509Asp)
c.5072T>A (p.Val1691Asp)
c.4889T>A (p.Val1630Asp)
c.4610T>A (p.Val1537Asp)
c.3653T>A (p.Val1218Asp)
c.3644T>A (p.Val1215Asp)
5g.37020819T>CCA359488092NIPBLc.5270T>C (p.Val1757Ala)
c.1-43759T>C (n.1-43759T>C)
c.4526T>C (p.Val1509Ala)
c.5072T>C (p.Val1691Ala)
c.4889T>C (p.Val1630Ala)
c.4610T>C (p.Val1537Ala)
c.3653T>C (p.Val1218Ala)
c.3644T>C (p.Val1215Ala)
5g.37020819T>GCA359488095NIPBLc.5270T>G (p.Val1757Gly)
c.1-43759T>G (n.1-43759T>G)
c.4526T>G (p.Val1509Gly)
c.5072T>G (p.Val1691Gly)
c.4889T>G (p.Val1630Gly)
c.4610T>G (p.Val1537Gly)
c.3653T>G (p.Val1218Gly)
c.3644T>G (p.Val1215Gly)
5g.37020820T>ACA443905203NIPBLc.5271T>A (p.Val1757=)
c.1-43758T>A (n.1-43758T>A)
c.4527T>A (p.Val1509=)
c.5073T>A (p.Val1691=)
c.4890T>A (p.Val1630=)
c.4611T>A (p.Val1537=)
c.3654T>A (p.Val1218=)
c.3645T>A (p.Val1215=)
5g.37020820T>CCA443905205NIPBLc.5271T>C (p.Val1757=)
c.1-43758T>C (n.1-43758T>C)
c.4527T>C (p.Val1509=)
c.5073T>C (p.Val1691=)
c.4890T>C (p.Val1630=)
c.4611T>C (p.Val1537=)
c.3654T>C (p.Val1218=)
c.3645T>C (p.Val1215=)
5g.37020820T>GCA443905204NIPBLc.5271T>G (p.Val1757=)
c.1-43758T>G (n.1-43758T>G)
c.4527T>G (p.Val1509=)
c.5073T>G (p.Val1691=)
c.4890T>G (p.Val1630=)
c.4611T>G (p.Val1537=)
c.3654T>G (p.Val1218=)
c.3645T>G (p.Val1215=)
5g.37020821C>ACA172717NIPBLc.5272C>A (p.Arg1758=)
c.1-43757C>A (n.1-43757C>A)
c.4528C>A (p.Arg1510=)
c.5074C>A (p.Arg1692=)
c.4891C>A (p.Arg1631=)
c.4612C>A (p.Arg1538=)
c.3655C>A (p.Arg1219=)
c.3646C>A (p.Arg1216=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.37020821C=CA1539584709NIPBLc.5272C= (p.Arg1758=)
c.1-43757C= (n.1-43757C=)
c.4528C= (p.Arg1510=)
c.5074C= (p.Arg1692=)
c.4891C= (p.Arg1631=)
c.4612C= (p.Arg1538=)
c.3655C= (p.Arg1219=)
c.3646C= (p.Arg1216=)
5g.37020821C>GCA359488101NIPBLc.5272C>G (p.Arg1758Gly)
c.1-43757C>G (n.1-43757C>G)
c.4528C>G (p.Arg1510Gly)
c.5074C>G (p.Arg1692Gly)
c.4891C>G (p.Arg1631Gly)
c.4612C>G (p.Arg1538Gly)
c.3655C>G (p.Arg1219Gly)
c.3646C>G (p.Arg1216Gly)
 gnomAD v4
5g.37020821C>TCA501202NIPBLc.5272C>T (p.Arg1758Ter)
c.1-43757C>T (n.1-43757C>T)
c.4528C>T (p.Arg1510Ter)
c.5074C>T (p.Arg1692Ter)
c.4891C>T (p.Arg1631Ter)
c.4612C>T (p.Arg1538Ter)
c.3655C>T (p.Arg1219Ter)
c.3646C>T (p.Arg1216Ter)
 ClinVar COSMIC COSMIC
5g.37020822G>ACA359488119NIPBLc.5273G>A (p.Arg1758Gln)
c.1-43756G>A (n.1-43756G>A)
c.4529G>A (p.Arg1510Gln)
c.5075G>A (p.Arg1692Gln)
c.4892G>A (p.Arg1631Gln)
c.4613G>A (p.Arg1538Gln)
c.3656G>A (p.Arg1219Gln)
c.3647G>A (p.Arg1216Gln)
 gnomAD v4 COSMIC COSMIC
5g.37020822G>CCA359488121NIPBLc.5273G>C (p.Arg1758Pro)
c.1-43756G>C (n.1-43756G>C)
c.4529G>C (p.Arg1510Pro)
c.5075G>C (p.Arg1692Pro)
c.4892G>C (p.Arg1631Pro)
c.4613G>C (p.Arg1538Pro)
c.3656G>C (p.Arg1219Pro)
c.3647G>C (p.Arg1216Pro)
5g.37020822G>TCA359488124NIPBLc.5273G>T (p.Arg1758Leu)
c.1-43756G>T (n.1-43756G>T)
c.4529G>T (p.Arg1510Leu)
c.5075G>T (p.Arg1692Leu)
c.4892G>T (p.Arg1631Leu)
c.4613G>T (p.Arg1538Leu)
c.3656G>T (p.Arg1219Leu)
c.3647G>T (p.Arg1216Leu)
 gnomAD v4
5g.37020823A=CA1539584719NIPBLc.5274A= (p.Arg1758=)
c.1-43755A= (n.1-43755A=)
c.4530A= (p.Arg1510=)
c.5076A= (p.Arg1692=)
c.4893A= (p.Arg1631=)
c.4614A= (p.Arg1538=)
c.3657A= (p.Arg1219=)
c.3648A= (p.Arg1216=)
5g.37020823A>CCA443905207NIPBLc.5274A>C (p.Arg1758=)
c.1-43755A>C (n.1-43755A>C)
c.4530A>C (p.Arg1510=)
c.5076A>C (p.Arg1692=)
c.4893A>C (p.Arg1631=)
c.4614A>C (p.Arg1538=)
c.3657A>C (p.Arg1219=)
c.3648A>C (p.Arg1216=)
5g.37020823A>GCA3236740NIPBLc.5274A>G (p.Arg1758=)
c.1-43755A>G (n.1-43755A>G)
c.4530A>G (p.Arg1510=)
c.5076A>G (p.Arg1692=)
c.4893A>G (p.Arg1631=)
c.4614A>G (p.Arg1538=)
c.3657A>G (p.Arg1219=)
c.3648A>G (p.Arg1216=)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.37020823A>TCA443905208NIPBLc.5274A>T (p.Arg1758=)
c.1-43755A>T (n.1-43755A>T)
c.4530A>T (p.Arg1510=)
c.5076A>T (p.Arg1692=)
c.4893A>T (p.Arg1631=)
c.4614A>T (p.Arg1538=)
c.3657A>T (p.Arg1219=)
c.3648A>T (p.Arg1216=)
5g.37020824T>ACA359488135NIPBLc.5275T>A (p.Tyr1759Asn)
c.1-43754T>A (n.1-43754T>A)
c.4531T>A (p.Tyr1511Asn)
c.5077T>A (p.Tyr1693Asn)
c.4894T>A (p.Tyr1632Asn)
c.4615T>A (p.Tyr1539Asn)
c.3658T>A (p.Tyr1220Asn)
c.3649T>A (p.Tyr1217Asn)
5g.37020824T>CCA359488138NIPBLc.5275T>C (p.Tyr1759His)
c.1-43754T>C (n.1-43754T>C)
c.4531T>C (p.Tyr1511His)
c.5077T>C (p.Tyr1693His)
c.4894T>C (p.Tyr1632His)
c.4615T>C (p.Tyr1539His)
c.3658T>C (p.Tyr1220His)
c.3649T>C (p.Tyr1217His)
5g.37020824T>GCA359488142NIPBLc.5275T>G (p.Tyr1759Asp)
c.1-43754T>G (n.1-43754T>G)
c.4531T>G (p.Tyr1511Asp)
c.5077T>G (p.Tyr1693Asp)
c.4894T>G (p.Tyr1632Asp)
c.4615T>G (p.Tyr1539Asp)
c.3658T>G (p.Tyr1220Asp)
c.3649T>G (p.Tyr1217Asp)
5g.37020825A>CCA359488145NIPBLc.5276A>C (p.Tyr1759Ser)
c.1-43753A>C (n.1-43753A>C)
c.4532A>C (p.Tyr1511Ser)
c.5078A>C (p.Tyr1693Ser)
c.4895A>C (p.Tyr1632Ser)
c.4616A>C (p.Tyr1539Ser)
c.3659A>C (p.Tyr1220Ser)
c.3650A>C (p.Tyr1217Ser)
5g.37020825A>GCA359488154NIPBLc.5276A>G (p.Tyr1759Cys)
c.1-43753A>G (n.1-43753A>G)
c.4532A>G (p.Tyr1511Cys)
c.5078A>G (p.Tyr1693Cys)
c.4895A>G (p.Tyr1632Cys)
c.4616A>G (p.Tyr1539Cys)
c.3659A>G (p.Tyr1220Cys)
c.3650A>G (p.Tyr1217Cys)
5g.37020825A>TCA359488151NIPBLc.5276A>T (p.Tyr1759Phe)
c.1-43753A>T (n.1-43753A>T)
c.4532A>T (p.Tyr1511Phe)
c.5078A>T (p.Tyr1693Phe)
c.4895A>T (p.Tyr1632Phe)
c.4616A>T (p.Tyr1539Phe)
c.3659A>T (p.Tyr1220Phe)
c.3650A>T (p.Tyr1217Phe)
5g.37020826C>ACA359488159NIPBLc.5277C>A (p.Tyr1759Ter)
c.1-43752C>A (n.1-43752C>A)
c.4533C>A (p.Tyr1511Ter)
c.5079C>A (p.Tyr1693Ter)
c.4896C>A (p.Tyr1632Ter)
c.4617C>A (p.Tyr1539Ter)
c.3660C>A (p.Tyr1220Ter)
c.3651C>A (p.Tyr1217Ter)
5g.37020826C=CA1539584730NIPBLc.5277C= (p.Tyr1759=)
c.1-43752C= (n.1-43752C=)
c.4533C= (p.Tyr1511=)
c.5079C= (p.Tyr1693=)
c.4896C= (p.Tyr1632=)
c.4617C= (p.Tyr1539=)
c.3660C= (p.Tyr1220=)
c.3651C= (p.Tyr1217=)
5g.37020826C>GCA359488162NIPBLc.5277C>G (p.Tyr1759Ter)
c.1-43752C>G (n.1-43752C>G)
c.4533C>G (p.Tyr1511Ter)
c.5079C>G (p.Tyr1693Ter)
c.4896C>G (p.Tyr1632Ter)
c.4617C>G (p.Tyr1539Ter)
c.3660C>G (p.Tyr1220Ter)
c.3651C>G (p.Tyr1217Ter)
5g.37020826C>TCA443905211NIPBLc.5277C>T (p.Tyr1759=)
c.1-43752C>T (n.1-43752C>T)
c.4533C>T (p.Tyr1511=)
c.5079C>T (p.Tyr1693=)
c.4896C>T (p.Tyr1632=)
c.4617C>T (p.Tyr1539=)
c.3660C>T (p.Tyr1220=)
c.3651C>T (p.Tyr1217=)
 dbSNP gnomAD v4
5g.37020827T>ACA359488166NIPBLc.5278T>A (p.Leu1760Met)
c.1-43751T>A (n.1-43751T>A)
c.4534T>A (p.Leu1512Met)
c.5080T>A (p.Leu1694Met)
c.4897T>A (p.Leu1633Met)
c.4618T>A (p.Leu1540Met)
c.3661T>A (p.Leu1221Met)
c.3652T>A (p.Leu1218Met)
5g.37020827T>CCA443905212NIPBLc.5278T>C (p.Leu1760=)
c.1-43751T>C (n.1-43751T>C)
c.4534T>C (p.Leu1512=)
c.5080T>C (p.Leu1694=)
c.4897T>C (p.Leu1633=)
c.4618T>C (p.Leu1540=)
c.3661T>C (p.Leu1221=)
c.3652T>C (p.Leu1218=)
5g.37020827T>GCA359488167NIPBLc.5278T>G (p.Leu1760Val)
c.1-43751T>G (n.1-43751T>G)
c.4534T>G (p.Leu1512Val)
c.5080T>G (p.Leu1694Val)
c.4897T>G (p.Leu1633Val)
c.4618T>G (p.Leu1540Val)
c.3661T>G (p.Leu1221Val)
c.3652T>G (p.Leu1218Val)
5g.37020828T>ACA359488171NIPBLc.5279T>A (p.Leu1760Ter)
c.1-43750T>A (n.1-43750T>A)
c.4535T>A (p.Leu1512Ter)
c.5081T>A (p.Leu1694Ter)
c.4898T>A (p.Leu1633Ter)
c.4619T>A (p.Leu1540Ter)
c.3662T>A (p.Leu1221Ter)
c.3653T>A (p.Leu1218Ter)
5g.37020828T>CCA359488172NIPBLc.5279T>C (p.Leu1760Ser)
c.1-43750T>C (n.1-43750T>C)
c.4535T>C (p.Leu1512Ser)
c.5081T>C (p.Leu1694Ser)
c.4898T>C (p.Leu1633Ser)
c.4619T>C (p.Leu1540Ser)
c.3662T>C (p.Leu1221Ser)
c.3653T>C (p.Leu1218Ser)
5g.37020828T>GCA359488173NIPBLc.5279T>G (p.Leu1760Trp)
c.1-43750T>G (n.1-43750T>G)
c.4535T>G (p.Leu1512Trp)
c.5081T>G (p.Leu1694Trp)
c.4898T>G (p.Leu1633Trp)
c.4619T>G (p.Leu1540Trp)
c.3662T>G (p.Leu1221Trp)
c.3653T>G (p.Leu1218Trp)
5g.37020829G>ACA443905213NIPBLc.5280G>A (p.Leu1760=)
c.1-43749G>A (n.1-43749G>A)
c.4536G>A (p.Leu1512=)
c.5082G>A (p.Leu1694=)
c.4899G>A (p.Leu1633=)
c.4620G>A (p.Leu1540=)
c.3663G>A (p.Leu1221=)
c.3654G>A (p.Leu1218=)
5g.37020829G>CCA359488177NIPBLc.5280G>C (p.Leu1760Phe)
c.1-43749G>C (n.1-43749G>C)
c.4536G>C (p.Leu1512Phe)
c.5082G>C (p.Leu1694Phe)
c.4899G>C (p.Leu1633Phe)
c.4620G>C (p.Leu1540Phe)
c.3663G>C (p.Leu1221Phe)
c.3654G>C (p.Leu1218Phe)
5g.37020829G>TCA359488185NIPBLc.5280G>T (p.Leu1760Phe)
c.1-43749G>T (n.1-43749G>T)
c.4536G>T (p.Leu1512Phe)
c.5082G>T (p.Leu1694Phe)
c.4899G>T (p.Leu1633Phe)
c.4620G>T (p.Leu1540Phe)
c.3663G>T (p.Leu1221Phe)
c.3654G>T (p.Leu1218Phe)
5g.37020830G>ACA359488187NIPBLc.5281G>A (p.Ala1761Thr)
c.1-43748G>A (n.1-43748G>A)
c.4537G>A (p.Ala1513Thr)
c.5083G>A (p.Ala1695Thr)
c.4900G>A (p.Ala1634Thr)
c.4621G>A (p.Ala1541Thr)
c.3664G>A (p.Ala1222Thr)
c.3655G>A (p.Ala1219Thr)
5g.37020830G>CCA359488192NIPBLc.5281G>C (p.Ala1761Pro)
c.1-43748G>C (n.1-43748G>C)
c.4537G>C (p.Ala1513Pro)
c.5083G>C (p.Ala1695Pro)
c.4900G>C (p.Ala1634Pro)
c.4621G>C (p.Ala1541Pro)
c.3664G>C (p.Ala1222Pro)
c.3655G>C (p.Ala1219Pro)
5g.37020830G>TCA359488196NIPBLc.5281G>T (p.Ala1761Ser)
c.1-43748G>T (n.1-43748G>T)
c.4537G>T (p.Ala1513Ser)
c.5083G>T (p.Ala1695Ser)
c.4900G>T (p.Ala1634Ser)
c.4621G>T (p.Ala1541Ser)
c.3664G>T (p.Ala1222Ser)
c.3655G>T (p.Ala1219Ser)
5g.37020831C>ACA359488209NIPBLc.5282C>A (p.Ala1761Asp)
c.1-43747C>A (n.1-43747C>A)
c.4538C>A (p.Ala1513Asp)
c.5084C>A (p.Ala1695Asp)
c.4901C>A (p.Ala1634Asp)
c.4622C>A (p.Ala1541Asp)
c.3665C>A (p.Ala1222Asp)
c.3656C>A (p.Ala1219Asp)
5g.37020831C>GCA359488201NIPBLc.5282C>G (p.Ala1761Gly)
c.1-43747C>G (n.1-43747C>G)
c.4538C>G (p.Ala1513Gly)
c.5084C>G (p.Ala1695Gly)
c.4901C>G (p.Ala1634Gly)
c.4622C>G (p.Ala1541Gly)
c.3665C>G (p.Ala1222Gly)
c.3656C>G (p.Ala1219Gly)
5g.37020831C>TCA359488206NIPBLc.5282C>T (p.Ala1761Val)
c.1-43747C>T (n.1-43747C>T)
c.4538C>T (p.Ala1513Val)
c.5084C>T (p.Ala1695Val)
c.4901C>T (p.Ala1634Val)
c.4622C>T (p.Ala1541Val)
c.3665C>T (p.Ala1222Val)
c.3656C>T (p.Ala1219Val)
5g.37020832C>ACA443905214NIPBLc.5283C>A (p.Ala1761=)
c.1-43746C>A (n.1-43746C>A)
c.4539C>A (p.Ala1513=)
c.5085C>A (p.Ala1695=)
c.4902C>A (p.Ala1634=)
c.4623C>A (p.Ala1541=)
c.3666C>A (p.Ala1222=)
c.3657C>A (p.Ala1219=)
5g.37020832C>GCA443905215NIPBLc.5283C>G (p.Ala1761=)
c.1-43746C>G (n.1-43746C>G)
c.4539C>G (p.Ala1513=)
c.5085C>G (p.Ala1695=)
c.4902C>G (p.Ala1634=)
c.4623C>G (p.Ala1541=)
c.3666C>G (p.Ala1222=)
c.3657C>G (p.Ala1219=)
5g.37020832C>TCA443905216NIPBLc.5283C>T (p.Ala1761=)
c.1-43746C>T (n.1-43746C>T)
c.4539C>T (p.Ala1513=)
c.5085C>T (p.Ala1695=)
c.4902C>T (p.Ala1634=)
c.4623C>T (p.Ala1541=)
c.3666C>T (p.Ala1222=)
c.3657C>T (p.Ala1219=)
5g.37020833T>ACA359488213NIPBLc.5284T>A (p.Ser1762Thr)
c.1-43745T>A (n.1-43745T>A)
c.4540T>A (p.Ser1514Thr)
c.5086T>A (p.Ser1696Thr)
c.4903T>A (p.Ser1635Thr)
c.4624T>A (p.Ser1542Thr)
c.3667T>A (p.Ser1223Thr)
c.3658T>A (p.Ser1220Thr)
 gnomAD v4
5g.37020833T>CCA359488219NIPBLc.5284T>C (p.Ser1762Pro)
c.1-43745T>C (n.1-43745T>C)
c.4540T>C (p.Ser1514Pro)
c.5086T>C (p.Ser1696Pro)
c.4903T>C (p.Ser1635Pro)
c.4624T>C (p.Ser1542Pro)
c.3667T>C (p.Ser1223Pro)
c.3658T>C (p.Ser1220Pro)
5g.37020833T>GCA359488215NIPBLc.5284T>G (p.Ser1762Ala)
c.1-43745T>G (n.1-43745T>G)
c.4540T>G (p.Ser1514Ala)
c.5086T>G (p.Ser1696Ala)
c.4903T>G (p.Ser1635Ala)
c.4624T>G (p.Ser1542Ala)
c.3667T>G (p.Ser1223Ala)
c.3658T>G (p.Ser1220Ala)
5g.37020834C>ACA359488223NIPBLc.5285C>A (p.Ser1762Tyr)
c.1-43744C>A (n.1-43744C>A)
c.4541C>A (p.Ser1514Tyr)
c.5087C>A (p.Ser1696Tyr)
c.4904C>A (p.Ser1635Tyr)
c.4625C>A (p.Ser1542Tyr)
c.3668C>A (p.Ser1223Tyr)
c.3659C>A (p.Ser1220Tyr)
5g.37020834C>GCA359488227NIPBLc.5285C>G (p.Ser1762Cys)
c.1-43744C>G (n.1-43744C>G)
c.4541C>G (p.Ser1514Cys)
c.5087C>G (p.Ser1696Cys)
c.4904C>G (p.Ser1635Cys)
c.4625C>G (p.Ser1542Cys)
c.3668C>G (p.Ser1223Cys)
c.3659C>G (p.Ser1220Cys)
5g.37020834C>TCA359488229NIPBLc.5285C>T (p.Ser1762Phe)
c.1-43744C>T (n.1-43744C>T)
c.4541C>T (p.Ser1514Phe)
c.5087C>T (p.Ser1696Phe)
c.4904C>T (p.Ser1635Phe)
c.4625C>T (p.Ser1542Phe)
c.3668C>T (p.Ser1223Phe)
c.3659C>T (p.Ser1220Phe)
 gnomAD v4
5g.37020835C>ACA443905217NIPBLc.5286C>A (p.Ser1762=)
c.1-43743C>A (n.1-43743C>A)
c.4542C>A (p.Ser1514=)
c.5088C>A (p.Ser1696=)
c.4905C>A (p.Ser1635=)
c.4626C>A (p.Ser1542=)
c.3669C>A (p.Ser1223=)
c.3660C>A (p.Ser1220=)
 gnomAD v4 COSMIC COSMIC
5g.37020835C>GCA443905218NIPBLc.5286C>G (p.Ser1762=)
c.1-43743C>G (n.1-43743C>G)
c.4542C>G (p.Ser1514=)
c.5088C>G (p.Ser1696=)
c.4905C>G (p.Ser1635=)
c.4626C>G (p.Ser1542=)
c.3669C>G (p.Ser1223=)
c.3660C>G (p.Ser1220=)
5g.37020835C>TCA443905219NIPBLc.5286C>T (p.Ser1762=)
c.1-43743C>T (n.1-43743C>T)
c.4542C>T (p.Ser1514=)
c.5088C>T (p.Ser1696=)
c.4905C>T (p.Ser1635=)
c.4626C>T (p.Ser1542=)
c.3669C>T (p.Ser1223=)
c.3660C>T (p.Ser1220=)
5g.37020836A>CCA359488232NIPBLc.5287A>C (p.Met1763Leu)
c.1-43742A>C (n.1-43742A>C)
c.4543A>C (p.Met1515Leu)
c.5089A>C (p.Met1697Leu)
c.4906A>C (p.Met1636Leu)
c.4627A>C (p.Met1543Leu)
c.3670A>C (p.Met1224Leu)
c.3661A>C (p.Met1221Leu)
5g.37020836A>GCA359488236NIPBLc.5287A>G (p.Met1763Val)
c.1-43742A>G (n.1-43742A>G)
c.4543A>G (p.Met1515Val)
c.5089A>G (p.Met1697Val)
c.4906A>G (p.Met1636Val)
c.4627A>G (p.Met1543Val)
c.3670A>G (p.Met1224Val)
c.3661A>G (p.Met1221Val)
5g.37020836A>TCA359488241NIPBLc.5287A>T (p.Met1763Leu)
c.1-43742A>T (n.1-43742A>T)
c.4543A>T (p.Met1515Leu)
c.5089A>T (p.Met1697Leu)
c.4906A>T (p.Met1636Leu)
c.4627A>T (p.Met1543Leu)
c.3670A>T (p.Met1224Leu)
c.3661A>T (p.Met1221Leu)
 gnomAD v4
5g.37020837T>ACA359488244NIPBLc.5288T>A (p.Met1763Lys)
c.1-43741T>A (n.1-43741T>A)
c.4544T>A (p.Met1515Lys)
c.5090T>A (p.Met1697Lys)
c.4907T>A (p.Met1636Lys)
c.4628T>A (p.Met1543Lys)
c.3671T>A (p.Met1224Lys)
c.3662T>A (p.Met1221Lys)
5g.37020837T>CCA359488246NIPBLc.5288T>C (p.Met1763Thr)
c.1-43741T>C (n.1-43741T>C)
c.4544T>C (p.Met1515Thr)
c.5090T>C (p.Met1697Thr)
c.4907T>C (p.Met1636Thr)
c.4628T>C (p.Met1543Thr)
c.3671T>C (p.Met1224Thr)
c.3662T>C (p.Met1221Thr)
5g.37020837T>GCA359488257NIPBLc.5288T>G (p.Met1763Arg)
c.1-43741T>G (n.1-43741T>G)
c.4544T>G (p.Met1515Arg)
c.5090T>G (p.Met1697Arg)
c.4907T>G (p.Met1636Arg)
c.4628T>G (p.Met1543Arg)
c.3671T>G (p.Met1224Arg)
c.3662T>G (p.Met1221Arg)
5g.37020838G>ACA359488264NIPBLc.5289G>A (p.Met1763Ile)
c.1-43740G>A (n.1-43740G>A)
c.4545G>A (p.Met1515Ile)
c.5091G>A (p.Met1697Ile)
c.4908G>A (p.Met1636Ile)
c.4629G>A (p.Met1543Ile)
c.3672G>A (p.Met1224Ile)
c.3663G>A (p.Met1221Ile)
 dbSNP gnomAD v2 gnomAD v4
5g.37020838G>CCA359488275NIPBLc.5289G>C (p.Met1763Ile)
c.1-43740G>C (n.1-43740G>C)
c.4545G>C (p.Met1515Ile)
c.5091G>C (p.Met1697Ile)
c.4908G>C (p.Met1636Ile)
c.4629G>C (p.Met1543Ile)
c.3672G>C (p.Met1224Ile)
c.3663G>C (p.Met1221Ile)
5g.37020838G=CA1539584738NIPBLc.5289G= (p.Met1763=)
c.1-43740G= (n.1-43740G=)
c.4545G= (p.Met1515=)
c.5091G= (p.Met1697=)
c.4908G= (p.Met1636=)
c.4629G= (p.Met1543=)
c.3672G= (p.Met1224=)
c.3663G= (p.Met1221=)
5g.37020838G>TCA359488277NIPBLc.5289G>T (p.Met1763Ile)
c.1-43740G>T (n.1-43740G>T)
c.4545G>T (p.Met1515Ile)
c.5091G>T (p.Met1697Ile)
c.4908G>T (p.Met1636Ile)
c.4629G>T (p.Met1543Ile)
c.3672G>T (p.Met1224Ile)
c.3663G>T (p.Met1221Ile)
5g.37020839A>CCA443905220NIPBLc.5290A>C (p.Arg1764=)
c.1-43739A>C (n.1-43739A>C)
c.4546A>C (p.Arg1516=)
c.5092A>C (p.Arg1698=)
c.4909A>C (p.Arg1637=)
c.4630A>C (p.Arg1544=)
c.3673A>C (p.Arg1225=)
c.3664A>C (p.Arg1222=)
5g.37020839A>GCA359488280NIPBLc.5290A>G (p.Arg1764Gly)
c.1-43739A>G (n.1-43739A>G)
c.4546A>G (p.Arg1516Gly)
c.5092A>G (p.Arg1698Gly)
c.4909A>G (p.Arg1637Gly)
c.4630A>G (p.Arg1544Gly)
c.3673A>G (p.Arg1225Gly)
c.3664A>G (p.Arg1222Gly)
5g.37020839A>TCA359488282NIPBLc.5290A>T (p.Arg1764Trp)
c.1-43739A>T (n.1-43739A>T)
c.4546A>T (p.Arg1516Trp)
c.5092A>T (p.Arg1698Trp)
c.4909A>T (p.Arg1637Trp)
c.4630A>T (p.Arg1544Trp)
c.3673A>T (p.Arg1225Trp)
c.3664A>T (p.Arg1222Trp)
5g.37020840G>ACA359488284NIPBLc.5291G>A (p.Arg1764Lys)
c.1-43738G>A (n.1-43738G>A)
c.4547G>A (p.Arg1516Lys)
c.5093G>A (p.Arg1698Lys)
c.4910G>A (p.Arg1637Lys)
c.4631G>A (p.Arg1544Lys)
c.3674G>A (p.Arg1225Lys)
c.3665G>A (p.Arg1222Lys)
5g.37020840G>CCA359488285NIPBLc.5291G>C (p.Arg1764Thr)
c.1-43738G>C (n.1-43738G>C)
c.4547G>C (p.Arg1516Thr)
c.5093G>C (p.Arg1698Thr)
c.4910G>C (p.Arg1637Thr)
c.4631G>C (p.Arg1544Thr)
c.3674G>C (p.Arg1225Thr)
c.3665G>C (p.Arg1222Thr)
5g.37020840G>TCA359488287NIPBLc.5291G>T (p.Arg1764Met)
c.1-43738G>T (n.1-43738G>T)
c.4547G>T (p.Arg1516Met)
c.5093G>T (p.Arg1698Met)
c.4910G>T (p.Arg1637Met)
c.4631G>T (p.Arg1544Met)
c.3674G>T (p.Arg1225Met)
c.3665G>T (p.Arg1222Met)
5g.37020841G>ACA443905221NIPBLc.5292G>A (p.Arg1764=)
c.1-43737G>A (n.1-43737G>A)
c.4548G>A (p.Arg1516=)
c.5094G>A (p.Arg1698=)
c.4911G>A (p.Arg1637=)
c.4632G>A (p.Arg1544=)
c.3675G>A (p.Arg1225=)
c.3666G>A (p.Arg1222=)
5g.37020841G>CCA359488291NIPBLc.5292G>C (p.Arg1764Ser)
c.1-43737G>C (n.1-43737G>C)
c.4548G>C (p.Arg1516Ser)
c.5094G>C (p.Arg1698Ser)
c.4911G>C (p.Arg1637Ser)
c.4632G>C (p.Arg1544Ser)
c.3675G>C (p.Arg1225Ser)
c.3666G>C (p.Arg1222Ser)
5g.37020841G>TCA359488294NIPBLc.5292G>T (p.Arg1764Ser)
c.1-43737G>T (n.1-43737G>T)
c.4548G>T (p.Arg1516Ser)
c.5094G>T (p.Arg1698Ser)
c.4911G>T (p.Arg1637Ser)
c.4632G>T (p.Arg1544Ser)
c.3675G>T (p.Arg1225Ser)
c.3666G>T (p.Arg1222Ser)
5g.37020842C>ACA359488298NIPBLc.5293C>A (p.Pro1765Thr)
c.1-43736C>A (n.1-43736C>A)
c.4549C>A (p.Pro1517Thr)
c.5095C>A (p.Pro1699Thr)
c.4912C>A (p.Pro1638Thr)
c.4633C>A (p.Pro1545Thr)
c.3676C>A (p.Pro1226Thr)
c.3667C>A (p.Pro1223Thr)
5g.37020842C=CA1539584744NIPBLc.5293C= (p.Pro1765=)
c.1-43736C= (n.1-43736C=)
c.4549C= (p.Pro1517=)
c.5095C= (p.Pro1699=)
c.4912C= (p.Pro1638=)
c.4633C= (p.Pro1545=)
c.3676C= (p.Pro1226=)
c.3667C= (p.Pro1223=)
5g.37020842C>GCA359488301NIPBLc.5293C>G (p.Pro1765Ala)
c.1-43736C>G (n.1-43736C>G)
c.4549C>G (p.Pro1517Ala)
c.5095C>G (p.Pro1699Ala)
c.4912C>G (p.Pro1638Ala)
c.4633C>G (p.Pro1545Ala)
c.3676C>G (p.Pro1226Ala)
c.3667C>G (p.Pro1223Ala)
5g.37020842C>TCA359488308NIPBLc.5293C>T (p.Pro1765Ser)
c.1-43736C>T (n.1-43736C>T)
c.4549C>T (p.Pro1517Ser)
c.5095C>T (p.Pro1699Ser)
c.4912C>T (p.Pro1638Ser)
c.4633C>T (p.Pro1545Ser)
c.3676C>T (p.Pro1226Ser)
c.3667C>T (p.Pro1223Ser)
 dbSNP
5g.37020843C>ACA359488311NIPBLc.5294C>A (p.Pro1765Gln)
c.1-43735C>A (n.1-43735C>A)
c.4550C>A (p.Pro1517Gln)
c.5096C>A (p.Pro1699Gln)
c.4913C>A (p.Pro1638Gln)
c.4634C>A (p.Pro1545Gln)
c.3677C>A (p.Pro1226Gln)
c.3668C>A (p.Pro1223Gln)
5g.37020843C>GCA359488313NIPBLc.5294C>G (p.Pro1765Arg)
c.1-43735C>G (n.1-43735C>G)
c.4550C>G (p.Pro1517Arg)
c.5096C>G (p.Pro1699Arg)
c.4913C>G (p.Pro1638Arg)
c.4634C>G (p.Pro1545Arg)
c.3677C>G (p.Pro1226Arg)
c.3668C>G (p.Pro1223Arg)
5g.37020843C>TCA359488316NIPBLc.5294C>T (p.Pro1765Leu)
c.1-43735C>T (n.1-43735C>T)
c.4550C>T (p.Pro1517Leu)
c.5096C>T (p.Pro1699Leu)
c.4913C>T (p.Pro1638Leu)
c.4634C>T (p.Pro1545Leu)
c.3677C>T (p.Pro1226Leu)
c.3668C>T (p.Pro1223Leu)
 gnomAD v4
5g.37020844G>ACA3236741NIPBLc.5295G>A (p.Pro1765=)
c.1-43734G>A (n.1-43734G>A)
c.4551G>A (p.Pro1517=)
c.5097G>A (p.Pro1699=)
c.4914G>A (p.Pro1638=)
c.4635G>A (p.Pro1545=)
c.3678G>A (p.Pro1226=)
c.3669G>A (p.Pro1223=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
5g.37020844G>CCA443905222NIPBLc.5295G>C (p.Pro1765=)
c.1-43734G>C (n.1-43734G>C)
c.4551G>C (p.Pro1517=)
c.5097G>C (p.Pro1699=)
c.4914G>C (p.Pro1638=)
c.4635G>C (p.Pro1545=)
c.3678G>C (p.Pro1226=)
c.3669G>C (p.Pro1223=)
 ClinVar dbSNP gnomAD v4
5g.37020844G=CA1539584752NIPBLc.5295G= (p.Pro1765=)
c.1-43734G= (n.1-43734G=)
c.4551G= (p.Pro1517=)
c.5097G= (p.Pro1699=)
c.4914G= (p.Pro1638=)
c.4635G= (p.Pro1545=)
c.3678G= (p.Pro1226=)
c.3669G= (p.Pro1223=)
5g.37020844G>TCA443905223NIPBLc.5295G>T (p.Pro1765=)
c.1-43734G>T (n.1-43734G>T)
c.4551G>T (p.Pro1517=)
c.5097G>T (p.Pro1699=)
c.4914G>T (p.Pro1638=)
c.4635G>T (p.Pro1545=)
c.3678G>T (p.Pro1226=)
c.3669G>T (p.Pro1223=)
5g.37020845T>ACA359488323NIPBLc.5296T>A (p.Phe1766Ile)
c.1-43733T>A (n.1-43733T>A)
c.4552T>A (p.Phe1518Ile)
c.5098T>A (p.Phe1700Ile)
c.4915T>A (p.Phe1639Ile)
c.4636T>A (p.Phe1546Ile)
c.3679T>A (p.Phe1227Ile)
c.3670T>A (p.Phe1224Ile)
5g.37020845T>CCA359488334NIPBLc.5296T>C (p.Phe1766Leu)
c.1-43733T>C (n.1-43733T>C)
c.4552T>C (p.Phe1518Leu)
c.5098T>C (p.Phe1700Leu)
c.4915T>C (p.Phe1639Leu)
c.4636T>C (p.Phe1546Leu)
c.3679T>C (p.Phe1227Leu)
c.3670T>C (p.Phe1224Leu)
5g.37020845T>GCA359488325NIPBLc.5296T>G (p.Phe1766Val)
c.1-43733T>G (n.1-43733T>G)
c.4552T>G (p.Phe1518Val)
c.5098T>G (p.Phe1700Val)
c.4915T>G (p.Phe1639Val)
c.4636T>G (p.Phe1546Val)
c.3679T>G (p.Phe1227Val)
c.3670T>G (p.Phe1224Val)
5g.37020846T>ACA359488337NIPBLc.5297T>A (p.Phe1766Tyr)
c.1-43732T>A (n.1-43732T>A)
c.4553T>A (p.Phe1518Tyr)
c.5099T>A (p.Phe1700Tyr)
c.4916T>A (p.Phe1639Tyr)
c.4637T>A (p.Phe1546Tyr)
c.3680T>A (p.Phe1227Tyr)
c.3671T>A (p.Phe1224Tyr)
5g.37020846T>CCA359488338NIPBLc.5297T>C (p.Phe1766Ser)
c.1-43732T>C (n.1-43732T>C)
c.4553T>C (p.Phe1518Ser)
c.5099T>C (p.Phe1700Ser)
c.4916T>C (p.Phe1639Ser)
c.4637T>C (p.Phe1546Ser)
c.3680T>C (p.Phe1227Ser)
c.3671T>C (p.Phe1224Ser)
 gnomAD v4
5g.37020846T>GCA359488339NIPBLc.5297T>G (p.Phe1766Cys)
c.1-43732T>G (n.1-43732T>G)
c.4553T>G (p.Phe1518Cys)
c.5099T>G (p.Phe1700Cys)
c.4916T>G (p.Phe1639Cys)
c.4637T>G (p.Phe1546Cys)
c.3680T>G (p.Phe1227Cys)
c.3671T>G (p.Phe1224Cys)
5g.37020847T>ACA359488340NIPBLc.5298T>A (p.Phe1766Leu)
c.1-43731T>A (n.1-43731T>A)
c.4554T>A (p.Phe1518Leu)
c.5100T>A (p.Phe1700Leu)
c.4917T>A (p.Phe1639Leu)
c.4638T>A (p.Phe1546Leu)
c.3681T>A (p.Phe1227Leu)
c.3672T>A (p.Phe1224Leu)
5g.37020847T>CCA443905224NIPBLc.5298T>C (p.Phe1766=)
c.1-43731T>C (n.1-43731T>C)
c.4554T>C (p.Phe1518=)
c.5100T>C (p.Phe1700=)
c.4917T>C (p.Phe1639=)
c.4638T>C (p.Phe1546=)
c.3681T>C (p.Phe1227=)
c.3672T>C (p.Phe1224=)
5g.37020847T>GCA359488343NIPBLc.5298T>G (p.Phe1766Leu)
c.1-43731T>G (n.1-43731T>G)
c.4554T>G (p.Phe1518Leu)
c.5100T>G (p.Phe1700Leu)
c.4917T>G (p.Phe1639Leu)
c.4638T>G (p.Phe1546Leu)
c.3681T>G (p.Phe1227Leu)
c.3672T>G (p.Phe1224Leu)

Number of alleles fetched