Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.37020703_37020723delCA2673553420NIPBLc.5225+30_5225+50del (n.5225+30_5225+50del)
c.1-43875_1-43855del (n.1-43875_1-43855del)
c.4481+30_4481+50del (n.4481+30_4481+50del)
c.5027+30_5027+50del (n.5027+30_5027+50del)
c.4844+30_4844+50del (n.4844+30_4844+50del)
c.4565+30_4565+50del (n.4565+30_4565+50del)
c.3608+30_3608+50del (n.3608+30_3608+50del)
c.3599+30_3599+50del (n.3599+30_3599+50del)
 gnomAD v4
5g.37020714A>CCA2673553424NIPBLc.5225+41A>C (n.5225+41A>C)
c.1-43864A>C (n.1-43864A>C)
c.4481+41A>C (n.4481+41A>C)
c.5027+41A>C (n.5027+41A>C)
c.4844+41A>C (n.4844+41A>C)
c.4565+41A>C (n.4565+41A>C)
c.3608+41A>C (n.3608+41A>C)
c.3599+41A>C (n.3599+41A>C)
 gnomAD v4
5g.37020716A=CA1539584209NIPBLc.5225+43A= (n.5225+43A=)
c.1-43862A= (n.1-43862A=)
c.4481+43A= (n.4481+43A=)
c.5027+43A= (n.5027+43A=)
c.4844+43A= (n.4844+43A=)
c.4565+43A= (n.4565+43A=)
c.3608+43A= (n.3608+43A=)
c.3599+43A= (n.3599+43A=)
5g.37020716A>GCA3236721NIPBLc.5225+43A>G (n.5225+43A>G)
c.1-43862A>G (n.1-43862A>G)
c.4481+43A>G (n.4481+43A>G)
c.5027+43A>G (n.5027+43A>G)
c.4844+43A>G (n.4844+43A>G)
c.4565+43A>G (n.4565+43A>G)
c.3608+43A>G (n.3608+43A>G)
c.3599+43A>G (n.3599+43A>G)
 dbSNP ExAC gnomAD v3 gnomAD v4
5g.37020717T>CCA117028094NIPBLc.5225+44T>C (n.5225+44T>C)
c.1-43861T>C (n.1-43861T>C)
c.4481+44T>C (n.4481+44T>C)
c.5027+44T>C (n.5027+44T>C)
c.4844+44T>C (n.4844+44T>C)
c.4565+44T>C (n.4565+44T>C)
c.3608+44T>C (n.3608+44T>C)
c.3599+44T>C (n.3599+44T>C)
 dbSNP gnomAD v3 gnomAD v4
5g.37020717T>GCA1075105947NIPBLc.5225+44T>G (n.5225+44T>G)
c.1-43861T>G (n.1-43861T>G)
c.4481+44T>G (n.4481+44T>G)
c.5027+44T>G (n.5027+44T>G)
c.4844+44T>G (n.4844+44T>G)
c.4565+44T>G (n.4565+44T>G)
c.3608+44T>G (n.3608+44T>G)
c.3599+44T>G (n.3599+44T>G)
 dbSNP gnomAD v3 gnomAD v4
5g.37020717T=CA1539584213NIPBLc.5225+44T= (n.5225+44T=)
c.1-43861T= (n.1-43861T=)
c.4481+44T= (n.4481+44T=)
c.5027+44T= (n.5027+44T=)
c.4844+44T= (n.4844+44T=)
c.4565+44T= (n.4565+44T=)
c.3608+44T= (n.3608+44T=)
c.3599+44T= (n.3599+44T=)
5g.37020718C=CA1539584221NIPBLc.5225+45C= (n.5225+45C=)
c.1-43860C= (n.1-43860C=)
c.4481+45C= (n.4481+45C=)
c.5027+45C= (n.5027+45C=)
c.4844+45C= (n.4844+45C=)
c.4565+45C= (n.4565+45C=)
c.3608+45C= (n.3608+45C=)
c.3599+45C= (n.3599+45C=)
5g.37020718C>TCA3236722NIPBLc.5225+45C>T (n.5225+45C>T)
c.1-43860C>T (n.1-43860C>T)
c.4481+45C>T (n.4481+45C>T)
c.5027+45C>T (n.5027+45C>T)
c.4844+45C>T (n.4844+45C>T)
c.4565+45C>T (n.4565+45C>T)
c.3608+45C>T (n.3608+45C>T)
c.3599+45C>T (n.3599+45C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.37020719T>ACA2673553425NIPBLc.5225+46T>A (n.5225+46T>A)
c.1-43859T>A (n.1-43859T>A)
c.4481+46T>A (n.4481+46T>A)
c.5027+46T>A (n.5027+46T>A)
c.4844+46T>A (n.4844+46T>A)
c.4565+46T>A (n.4565+46T>A)
c.3608+46T>A (n.3608+46T>A)
c.3599+46T>A (n.3599+46T>A)
 gnomAD v4
5g.37020719T>CCA2673553426NIPBLc.5225+46T>C (n.5225+46T>C)
c.1-43859T>C (n.1-43859T>C)
c.4481+46T>C (n.4481+46T>C)
c.5027+46T>C (n.5027+46T>C)
c.4844+46T>C (n.4844+46T>C)
c.4565+46T>C (n.4565+46T>C)
c.3608+46T>C (n.3608+46T>C)
c.3599+46T>C (n.3599+46T>C)
 gnomAD v4
5g.37020719_37020720delinsTACA1539584226NIPBLc.5225+46_5225+47delinsTA (n.5225+46_5225+47delinsTA)
c.1-43859_1-43858delinsTA (n.1-43859_1-43858delinsTA)
c.4481+46_4481+47delinsTA (n.4481+46_4481+47delinsTA)
c.5027+46_5027+47delinsTA (n.5027+46_5027+47delinsTA)
c.4844+46_4844+47delinsTA (n.4844+46_4844+47delinsTA)
c.4565+46_4565+47delinsTA (n.4565+46_4565+47delinsTA)
c.3608+46_3608+47delinsTA (n.3608+46_3608+47delinsTA)
c.3599+46_3599+47delinsTA (n.3599+46_3599+47delinsTA)
5g.37020720delCA1539584230NIPBLc.5225+47del (n.5225+47del)
c.1-43858del (n.1-43858del)
c.4481+47del (n.4481+47del)
c.5027+47del (n.5027+47del)
c.4844+47del (n.4844+47del)
c.4565+47del (n.4565+47del)
c.3608+47del (n.3608+47del)
c.3599+47del (n.3599+47del)
 dbSNP gnomAD v4
5g.37020720A=CA1539584229NIPBLc.5225+47A= (n.5225+47A=)
c.1-43858A= (n.1-43858A=)
c.4481+47A= (n.4481+47A=)
c.5027+47A= (n.5027+47A=)
c.4844+47A= (n.4844+47A=)
c.4565+47A= (n.4565+47A=)
c.3608+47A= (n.3608+47A=)
c.3599+47A= (n.3599+47A=)
5g.37020720A>GCA3236723NIPBLc.5225+47A>G (n.5225+47A>G)
c.1-43858A>G (n.1-43858A>G)
c.4481+47A>G (n.4481+47A>G)
c.5027+47A>G (n.5027+47A>G)
c.4844+47A>G (n.4844+47A>G)
c.4565+47A>G (n.4565+47A>G)
c.3608+47A>G (n.3608+47A>G)
c.3599+47A>G (n.3599+47A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.37020723T>ACA2765898365NIPBLc.5225+50T>A (n.5225+50T>A)
c.1-43855T>A (n.1-43855T>A)
c.4481+50T>A (n.4481+50T>A)
c.5027+50T>A (n.5027+50T>A)
c.4844+50T>A (n.4844+50T>A)
c.4565+50T>A (n.4565+50T>A)
c.3608+50T>A (n.3608+50T>A)
c.3599+50T>A (n.3599+50T>A)
5g.37020724C>TCA2673553428NIPBLc.5226-51C>T (n.5226-51C>T)
c.1-43854C>T (n.1-43854C>T)
c.4482-51C>T (n.4482-51C>T)
c.5028-51C>T (n.5028-51C>T)
c.4845-51C>T (n.4845-51C>T)
c.4566-51C>T (n.4566-51C>T)
c.3609-51C>T (n.3609-51C>T)
c.3600-51C>T (n.3600-51C>T)
 gnomAD v4
5g.37020726C=CA1539584234NIPBLc.5226-49C= (n.5226-49C=)
c.1-43852C= (n.1-43852C=)
c.4482-49C= (n.4482-49C=)
c.5028-49C= (n.5028-49C=)
c.4845-49C= (n.4845-49C=)
c.4566-49C= (n.4566-49C=)
c.3609-49C= (n.3609-49C=)
c.3600-49C= (n.3600-49C=)
5g.37020726C>GCA1075105951NIPBLc.5226-49C>G (n.5226-49C>G)
c.1-43852C>G (n.1-43852C>G)
c.4482-49C>G (n.4482-49C>G)
c.5028-49C>G (n.5028-49C>G)
c.4845-49C>G (n.4845-49C>G)
c.4566-49C>G (n.4566-49C>G)
c.3609-49C>G (n.3609-49C>G)
c.3600-49C>G (n.3600-49C>G)
 dbSNP gnomAD v3 gnomAD v4
5g.37020729delCA2673553430NIPBLc.5226-46del (n.5226-46del)
c.1-43849del (n.1-43849del)
c.4482-46del (n.4482-46del)
c.5028-46del (n.5028-46del)
c.4845-46del (n.4845-46del)
c.4566-46del (n.4566-46del)
c.3609-46del (n.3609-46del)
c.3600-46del (n.3600-46del)
 gnomAD v4
5g.37020729A>CCA2673553431NIPBLc.5226-46A>C (n.5226-46A>C)
c.1-43849A>C (n.1-43849A>C)
c.4482-46A>C (n.4482-46A>C)
c.5028-46A>C (n.5028-46A>C)
c.4845-46A>C (n.4845-46A>C)
c.4566-46A>C (n.4566-46A>C)
c.3609-46A>C (n.3609-46A>C)
c.3600-46A>C (n.3600-46A>C)
 gnomAD v4
5g.37020729A>GCA2673553432NIPBLc.5226-46A>G (n.5226-46A>G)
c.1-43849A>G (n.1-43849A>G)
c.4482-46A>G (n.4482-46A>G)
c.5028-46A>G (n.5028-46A>G)
c.4845-46A>G (n.4845-46A>G)
c.4566-46A>G (n.4566-46A>G)
c.3609-46A>G (n.3609-46A>G)
c.3600-46A>G (n.3600-46A>G)
 gnomAD v4
5g.37020730G>CCA1539584236NIPBLc.5226-45G>C (n.5226-45G>C)
c.1-43848G>C (n.1-43848G>C)
c.4482-45G>C (n.4482-45G>C)
c.5028-45G>C (n.5028-45G>C)
c.4845-45G>C (n.4845-45G>C)
c.4566-45G>C (n.4566-45G>C)
c.3609-45G>C (n.3609-45G>C)
c.3600-45G>C (n.3600-45G>C)
 dbSNP gnomAD v4
5g.37020730G=CA1539584235NIPBLc.5226-45G= (n.5226-45G=)
c.1-43848G= (n.1-43848G=)
c.4482-45G= (n.4482-45G=)
c.5028-45G= (n.5028-45G=)
c.4845-45G= (n.4845-45G=)
c.4566-45G= (n.4566-45G=)
c.3609-45G= (n.3609-45G=)
c.3600-45G= (n.3600-45G=)
5g.37020733A>CCA2673553435NIPBLc.5226-42A>C (n.5226-42A>C)
c.1-43845A>C (n.1-43845A>C)
c.4482-42A>C (n.4482-42A>C)
c.5028-42A>C (n.5028-42A>C)
c.4845-42A>C (n.4845-42A>C)
c.4566-42A>C (n.4566-42A>C)
c.3609-42A>C (n.3609-42A>C)
c.3600-42A>C (n.3600-42A>C)
 gnomAD v4
5g.37020733A>TCA2578289439NIPBLc.5226-42A>T (n.5226-42A>T)
c.1-43845A>T (n.1-43845A>T)
c.4482-42A>T (n.4482-42A>T)
c.5028-42A>T (n.5028-42A>T)
c.4845-42A>T (n.4845-42A>T)
c.4566-42A>T (n.4566-42A>T)
c.3609-42A>T (n.3609-42A>T)
c.3600-42A>T (n.3600-42A>T)
5g.37020734C=CA1539584238NIPBLc.5226-41C= (n.5226-41C=)
c.1-43844C= (n.1-43844C=)
c.4482-41C= (n.4482-41C=)
c.5028-41C= (n.5028-41C=)
c.4845-41C= (n.4845-41C=)
c.4566-41C= (n.4566-41C=)
c.3609-41C= (n.3609-41C=)
c.3600-41C= (n.3600-41C=)
5g.37020734C>TCA3236724NIPBLc.5226-41C>T (n.5226-41C>T)
c.1-43844C>T (n.1-43844C>T)
c.4482-41C>T (n.4482-41C>T)
c.5028-41C>T (n.5028-41C>T)
c.4845-41C>T (n.4845-41C>T)
c.4566-41C>T (n.4566-41C>T)
c.3609-41C>T (n.3609-41C>T)
c.3600-41C>T (n.3600-41C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.37020734_37020735delinsCACA1539584240NIPBLc.5226-41_5226-40delinsCA (n.5226-41_5226-40delinsCA)
c.1-43844_1-43843delinsCA (n.1-43844_1-43843delinsCA)
c.4482-41_4482-40delinsCA (n.4482-41_4482-40delinsCA)
c.5028-41_5028-40delinsCA (n.5028-41_5028-40delinsCA)
c.4845-41_4845-40delinsCA (n.4845-41_4845-40delinsCA)
c.4566-41_4566-40delinsCA (n.4566-41_4566-40delinsCA)
c.3609-41_3609-40delinsCA (n.3609-41_3609-40delinsCA)
c.3600-41_3600-40delinsCA (n.3600-41_3600-40delinsCA)
5g.37020735A=CA1539584247NIPBLc.5226-40A= (n.5226-40A=)
c.1-43843A= (n.1-43843A=)
c.4482-40A= (n.4482-40A=)
c.5028-40A= (n.5028-40A=)
c.4845-40A= (n.4845-40A=)
c.4566-40A= (n.4566-40A=)
c.3609-40A= (n.3609-40A=)
c.3600-40A= (n.3600-40A=)
5g.37020735A>CCA1539584245NIPBLc.5226-40A>C (n.5226-40A>C)
c.1-43843A>C (n.1-43843A>C)
c.4482-40A>C (n.4482-40A>C)
c.5028-40A>C (n.5028-40A>C)
c.4845-40A>C (n.4845-40A>C)
c.4566-40A>C (n.4566-40A>C)
c.3609-40A>C (n.3609-40A>C)
c.3600-40A>C (n.3600-40A>C)
 dbSNP
5g.37020741dupCA2673553438NIPBLc.5226-34dup (n.5226-34dup)
c.1-43837dup (n.1-43837dup)
c.4482-34dup (n.4482-34dup)
c.5028-34dup (n.5028-34dup)
c.4845-34dup (n.4845-34dup)
c.4566-34dup (n.4566-34dup)
c.3609-34dup (n.3609-34dup)
c.3600-34dup (n.3600-34dup)
 gnomAD v4
5g.37020741delCA559295229NIPBLc.5226-34del (n.5226-34del)
c.1-43837del (n.1-43837del)
c.4482-34del (n.4482-34del)
c.5028-34del (n.5028-34del)
c.4845-34del (n.4845-34del)
c.4566-34del (n.4566-34del)
c.3609-34del (n.3609-34del)
c.3600-34del (n.3600-34del)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.37020736A=CA1539584249NIPBLc.5226-39A= (n.5226-39A=)
c.1-43842A= (n.1-43842A=)
c.4482-39A= (n.4482-39A=)
c.5028-39A= (n.5028-39A=)
c.4845-39A= (n.4845-39A=)
c.4566-39A= (n.4566-39A=)
c.3609-39A= (n.3609-39A=)
c.3600-39A= (n.3600-39A=)
5g.37020736A>CCA559295230NIPBLc.5226-39A>C (n.5226-39A>C)
c.1-43842A>C (n.1-43842A>C)
c.4482-39A>C (n.4482-39A>C)
c.5028-39A>C (n.5028-39A>C)
c.4845-39A>C (n.4845-39A>C)
c.4566-39A>C (n.4566-39A>C)
c.3609-39A>C (n.3609-39A>C)
c.3600-39A>C (n.3600-39A>C)
 dbSNP gnomAD v2 gnomAD v4
5g.37020738A=CA1539584251NIPBLc.5226-37A= (n.5226-37A=)
c.1-43840A= (n.1-43840A=)
c.4482-37A= (n.4482-37A=)
c.5028-37A= (n.5028-37A=)
c.4845-37A= (n.4845-37A=)
c.4566-37A= (n.4566-37A=)
c.3609-37A= (n.3609-37A=)
c.3600-37A= (n.3600-37A=)
5g.37020738A>GCA3236725NIPBLc.5226-37A>G (n.5226-37A>G)
c.1-43840A>G (n.1-43840A>G)
c.4482-37A>G (n.4482-37A>G)
c.5028-37A>G (n.5028-37A>G)
c.4845-37A>G (n.4845-37A>G)
c.4566-37A>G (n.4566-37A>G)
c.3609-37A>G (n.3609-37A>G)
c.3600-37A>G (n.3600-37A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.37020738_37020742delinsAAAAGCA1539584253NIPBLc.5226-37_5226-33delinsAAAAG (n.5226-37_5226-33delinsAAAAG)
c.1-43840_1-43836delinsAAAAG (n.1-43840_1-43836delinsAAAAG)
c.4482-37_4482-33delinsAAAAG (n.4482-37_4482-33delinsAAAAG)
c.5028-37_5028-33delinsAAAAG (n.5028-37_5028-33delinsAAAAG)
c.4845-37_4845-33delinsAAAAG (n.4845-37_4845-33delinsAAAAG)
c.4566-37_4566-33delinsAAAAG (n.4566-37_4566-33delinsAAAAG)
c.3609-37_3609-33delinsAAAAG (n.3609-37_3609-33delinsAAAAG)
c.3600-37_3600-33delinsAAAAG (n.3600-37_3600-33delinsAAAAG)
5g.37020739A>GCA2673553444NIPBLc.5226-36A>G (n.5226-36A>G)
c.1-43839A>G (n.1-43839A>G)
c.4482-36A>G (n.4482-36A>G)
c.5028-36A>G (n.5028-36A>G)
c.4845-36A>G (n.4845-36A>G)
c.4566-36A>G (n.4566-36A>G)
c.3609-36A>G (n.3609-36A>G)
c.3600-36A>G (n.3600-36A>G)
 gnomAD v4
5g.37020742_37020745delCA559295231NIPBLc.5226-33_5226-30del (n.5226-33_5226-30del)
c.1-43836_1-43833del (n.1-43836_1-43833del)
c.4482-33_4482-30del (n.4482-33_4482-30del)
c.5028-33_5028-30del (n.5028-33_5028-30del)
c.4845-33_4845-30del (n.4845-33_4845-30del)
c.4566-33_4566-30del (n.4566-33_4566-30del)
c.3609-33_3609-30del (n.3609-33_3609-30del)
c.3600-33_3600-30del (n.3600-33_3600-30del)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.37020740A=CA1539584273NIPBLc.5226-35A= (n.5226-35A=)
c.1-43838A= (n.1-43838A=)
c.4482-35A= (n.4482-35A=)
c.5028-35A= (n.5028-35A=)
c.4845-35A= (n.4845-35A=)
c.4566-35A= (n.4566-35A=)
c.3609-35A= (n.3609-35A=)
c.3600-35A= (n.3600-35A=)
5g.37020740A>GCA559295232NIPBLc.5226-35A>G (n.5226-35A>G)
c.1-43838A>G (n.1-43838A>G)
c.4482-35A>G (n.4482-35A>G)
c.5028-35A>G (n.5028-35A>G)
c.4845-35A>G (n.4845-35A>G)
c.4566-35A>G (n.4566-35A>G)
c.3609-35A>G (n.3609-35A>G)
c.3600-35A>G (n.3600-35A>G)
 dbSNP gnomAD v2
5g.37020742delCA2673553446NIPBLc.5226-33del (n.5226-33del)
c.1-43836del (n.1-43836del)
c.4482-33del (n.4482-33del)
c.5028-33del (n.5028-33del)
c.4845-33del (n.4845-33del)
c.4566-33del (n.4566-33del)
c.3609-33del (n.3609-33del)
c.3600-33del (n.3600-33del)
 gnomAD v4
5g.37020742_37020743delinsGACA1539584275NIPBLc.5226-33_5226-32delinsGA (n.5226-33_5226-32delinsGA)
c.1-43836_1-43835delinsGA (n.1-43836_1-43835delinsGA)
c.4482-33_4482-32delinsGA (n.4482-33_4482-32delinsGA)
c.5028-33_5028-32delinsGA (n.5028-33_5028-32delinsGA)
c.4845-33_4845-32delinsGA (n.4845-33_4845-32delinsGA)
c.4566-33_4566-32delinsGA (n.4566-33_4566-32delinsGA)
c.3609-33_3609-32delinsGA (n.3609-33_3609-32delinsGA)
c.3600-33_3600-32delinsGA (n.3600-33_3600-32delinsGA)
5g.37020743A=CA1539584293NIPBLc.5226-32A= (n.5226-32A=)
c.1-43835A= (n.1-43835A=)
c.4482-32A= (n.4482-32A=)
c.5028-32A= (n.5028-32A=)
c.4845-32A= (n.4845-32A=)
c.4566-32A= (n.4566-32A=)
c.3609-32A= (n.3609-32A=)
c.3600-32A= (n.3600-32A=)
5g.37020743A>GCA2673553450NIPBLc.5226-32A>G (n.5226-32A>G)
c.1-43835A>G (n.1-43835A>G)
c.4482-32A>G (n.4482-32A>G)
c.5028-32A>G (n.5028-32A>G)
c.4845-32A>G (n.4845-32A>G)
c.4566-32A>G (n.4566-32A>G)
c.3609-32A>G (n.3609-32A>G)
c.3600-32A>G (n.3600-32A>G)
 gnomAD v4
5g.37020743A>TCA559295233NIPBLc.5226-32A>T (n.5226-32A>T)
c.1-43835A>T (n.1-43835A>T)
c.4482-32A>T (n.4482-32A>T)
c.5028-32A>T (n.5028-32A>T)
c.4845-32A>T (n.4845-32A>T)
c.4566-32A>T (n.4566-32A>T)
c.3609-32A>T (n.3609-32A>T)
c.3600-32A>T (n.3600-32A>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
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.37020746A>CCA2673553456NIPBLc.5226-29A>C (n.5226-29A>C)
c.1-43832A>C (n.1-43832A>C)
c.4482-29A>C (n.4482-29A>C)
c.5028-29A>C (n.5028-29A>C)
c.4845-29A>C (n.4845-29A>C)
c.4566-29A>C (n.4566-29A>C)
c.3609-29A>C (n.3609-29A>C)
c.3600-29A>C (n.3600-29A>C)
 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)

Number of alleles fetched