Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.37045417_37045425delCA2673581616NIPBLc.6344-26_6344-18del (n.6344-26_6344-18del)
c.1-19161_1-19153del (n.1-19161_1-19153del)
c.5600-26_5600-18del (n.5600-26_5600-18del)
c.6146-26_6146-18del (n.6146-26_6146-18del)
c.5963-26_5963-18del (n.5963-26_5963-18del)
c.5684-26_5684-18del (n.5684-26_5684-18del)
c.4727-26_4727-18del (n.4727-26_4727-18del)
c.4718-26_4718-18del (n.4718-26_4718-18del)
 gnomAD v4
5g.37045418_37045419delinsAGCA1539618448NIPBLc.6344-25_6344-24delinsAG (n.6344-25_6344-24delinsAG)
c.1-19160_1-19159delinsAG (n.1-19160_1-19159delinsAG)
c.5600-25_5600-24delinsAG (n.5600-25_5600-24delinsAG)
c.6146-25_6146-24delinsAG (n.6146-25_6146-24delinsAG)
c.5963-25_5963-24delinsAG (n.5963-25_5963-24delinsAG)
c.5684-25_5684-24delinsAG (n.5684-25_5684-24delinsAG)
c.4727-25_4727-24delinsAG (n.4727-25_4727-24delinsAG)
c.4718-25_4718-24delinsAG (n.4718-25_4718-24delinsAG)
5g.37045419delCA559295260NIPBLc.6344-24del (n.6344-24del)
c.1-19159del (n.1-19159del)
c.5600-24del (n.5600-24del)
c.6146-24del (n.6146-24del)
c.5963-24del (n.5963-24del)
c.5684-24del (n.5684-24del)
c.4727-24del (n.4727-24del)
c.4718-24del (n.4718-24del)
 dbSNP gnomAD v2 gnomAD v4
5g.37045419G>TCA2673581617NIPBLc.6344-24G>T (n.6344-24G>T)
c.1-19159G>T (n.1-19159G>T)
c.5600-24G>T (n.5600-24G>T)
c.6146-24G>T (n.6146-24G>T)
c.5963-24G>T (n.5963-24G>T)
c.5684-24G>T (n.5684-24G>T)
c.4727-24G>T (n.4727-24G>T)
c.4718-24G>T (n.4718-24G>T)
 gnomAD v4
5g.37045419_37045423delinsGTAAACA1539618450NIPBLc.6344-24_6344-20delinsGTAAA (n.6344-24_6344-20delinsGTAAA)
c.1-19159_1-19155delinsGTAAA (n.1-19159_1-19155delinsGTAAA)
c.5600-24_5600-20delinsGTAAA (n.5600-24_5600-20delinsGTAAA)
c.6146-24_6146-20delinsGTAAA (n.6146-24_6146-20delinsGTAAA)
c.5963-24_5963-20delinsGTAAA (n.5963-24_5963-20delinsGTAAA)
c.5684-24_5684-20delinsGTAAA (n.5684-24_5684-20delinsGTAAA)
c.4727-24_4727-20delinsGTAAA (n.4727-24_4727-20delinsGTAAA)
c.4718-24_4718-20delinsGTAAA (n.4718-24_4718-20delinsGTAAA)
5g.37045420T>CCA1539618453NIPBLc.6344-23T>C (n.6344-23T>C)
c.1-19158T>C (n.1-19158T>C)
c.5600-23T>C (n.5600-23T>C)
c.6146-23T>C (n.6146-23T>C)
c.5963-23T>C (n.5963-23T>C)
c.5684-23T>C (n.5684-23T>C)
c.4727-23T>C (n.4727-23T>C)
c.4718-23T>C (n.4718-23T>C)
 dbSNP gnomAD v3 gnomAD v4
5g.37045420T=CA1539618451NIPBLc.6344-23T= (n.6344-23T=)
c.1-19158T= (n.1-19158T=)
c.5600-23T= (n.5600-23T=)
c.6146-23T= (n.6146-23T=)
c.5963-23T= (n.5963-23T=)
c.5684-23T= (n.5684-23T=)
c.4727-23T= (n.4727-23T=)
c.4718-23T= (n.4718-23T=)
5g.37045422_37045425delCA559295261NIPBLc.6344-21_6344-18del (n.6344-21_6344-18del)
c.1-19156_1-19153del (n.1-19156_1-19153del)
c.5600-21_5600-18del (n.5600-21_5600-18del)
c.6146-21_6146-18del (n.6146-21_6146-18del)
c.5963-21_5963-18del (n.5963-21_5963-18del)
c.5684-21_5684-18del (n.5684-21_5684-18del)
c.4727-21_4727-18del (n.4727-21_4727-18del)
c.4718-21_4718-18del (n.4718-21_4718-18del)
 dbSNP gnomAD v2 gnomAD v4
5g.37045421A=CA1539618454NIPBLc.6344-22A= (n.6344-22A=)
c.1-19157A= (n.1-19157A=)
c.5600-22A= (n.5600-22A=)
c.6146-22A= (n.6146-22A=)
c.5963-22A= (n.5963-22A=)
c.5684-22A= (n.5684-22A=)
c.4727-22A= (n.4727-22A=)
c.4718-22A= (n.4718-22A=)
5g.37045421A>CCA2527809073NIPBLc.6344-22A>C (n.6344-22A>C)
c.1-19157A>C (n.1-19157A>C)
c.5600-22A>C (n.5600-22A>C)
c.6146-22A>C (n.6146-22A>C)
c.5963-22A>C (n.5963-22A>C)
c.5684-22A>C (n.5684-22A>C)
c.4727-22A>C (n.4727-22A>C)
c.4718-22A>C (n.4718-22A>C)
 gnomAD v4
5g.37045421A>TCA559295262NIPBLc.6344-22A>T (n.6344-22A>T)
c.1-19157A>T (n.1-19157A>T)
c.5600-22A>T (n.5600-22A>T)
c.6146-22A>T (n.6146-22A>T)
c.5963-22A>T (n.5963-22A>T)
c.5684-22A>T (n.5684-22A>T)
c.4727-22A>T (n.4727-22A>T)
c.4718-22A>T (n.4718-22A>T)
 dbSNP gnomAD v2 gnomAD v4
5g.37045423delCA2673581618NIPBLc.6344-20del (n.6344-20del)
c.1-19155del (n.1-19155del)
c.5600-20del (n.5600-20del)
c.6146-20del (n.6146-20del)
c.5963-20del (n.5963-20del)
c.5684-20del (n.5684-20del)
c.4727-20del (n.4727-20del)
c.4718-20del (n.4718-20del)
 gnomAD v4
5g.37045422A=CA1539618455NIPBLc.6344-21A= (n.6344-21A=)
c.1-19156A= (n.1-19156A=)
c.5600-21A= (n.5600-21A=)
c.6146-21A= (n.6146-21A=)
c.5963-21A= (n.5963-21A=)
c.5684-21A= (n.5684-21A=)
c.4727-21A= (n.4727-21A=)
c.4718-21A= (n.4718-21A=)
5g.37045422A>CCA3236991NIPBLc.6344-21A>C (n.6344-21A>C)
c.1-19156A>C (n.1-19156A>C)
c.5600-21A>C (n.5600-21A>C)
c.6146-21A>C (n.6146-21A>C)
c.5963-21A>C (n.5963-21A>C)
c.5684-21A>C (n.5684-21A>C)
c.4727-21A>C (n.4727-21A>C)
c.4718-21A>C (n.4718-21A>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.37045423A=CA1539618456NIPBLc.6344-20A= (n.6344-20A=)
c.1-19155A= (n.1-19155A=)
c.5600-20A= (n.5600-20A=)
c.6146-20A= (n.6146-20A=)
c.5963-20A= (n.5963-20A=)
c.5684-20A= (n.5684-20A=)
c.4727-20A= (n.4727-20A=)
c.4718-20A= (n.4718-20A=)
5g.37045423A>GCA1539618457NIPBLc.6344-20A>G (n.6344-20A>G)
c.1-19155A>G (n.1-19155A>G)
c.5600-20A>G (n.5600-20A>G)
c.6146-20A>G (n.6146-20A>G)
c.5963-20A>G (n.5963-20A>G)
c.5684-20A>G (n.5684-20A>G)
c.4727-20A>G (n.4727-20A>G)
c.4718-20A>G (n.4718-20A>G)
 dbSNP
5g.37045424delCA2673581619NIPBLc.6344-19del (n.6344-19del)
c.1-19154del (n.1-19154del)
c.5600-19del (n.5600-19del)
c.6146-19del (n.6146-19del)
c.5963-19del (n.5963-19del)
c.5684-19del (n.5684-19del)
c.4727-19del (n.4727-19del)
c.4718-19del (n.4718-19del)
 gnomAD v4
5g.37045424T>CCA2673581620NIPBLc.6344-19T>C (n.6344-19T>C)
c.1-19154T>C (n.1-19154T>C)
c.5600-19T>C (n.5600-19T>C)
c.6146-19T>C (n.6146-19T>C)
c.5963-19T>C (n.5963-19T>C)
c.5684-19T>C (n.5684-19T>C)
c.4727-19T>C (n.4727-19T>C)
c.4718-19T>C (n.4718-19T>C)
 gnomAD v4
5g.37045425A>GCA2673581621NIPBLc.6344-18A>G (n.6344-18A>G)
c.1-19153A>G (n.1-19153A>G)
c.5600-18A>G (n.5600-18A>G)
c.6146-18A>G (n.6146-18A>G)
c.5963-18A>G (n.5963-18A>G)
c.5684-18A>G (n.5684-18A>G)
c.4727-18A>G (n.4727-18A>G)
c.4718-18A>G (n.4718-18A>G)
 gnomAD v4
5g.37045425A>TCA2578289492NIPBLc.6344-18A>T (n.6344-18A>T)
c.1-19153A>T (n.1-19153A>T)
c.5600-18A>T (n.5600-18A>T)
c.6146-18A>T (n.6146-18A>T)
c.5963-18A>T (n.5963-18A>T)
c.5684-18A>T (n.5684-18A>T)
c.4727-18A>T (n.4727-18A>T)
c.4718-18A>T (n.4718-18A>T)
5g.37045426T>CCA559295285NIPBLc.6344-17T>C (n.6344-17T>C)
c.1-19152T>C (n.1-19152T>C)
c.5600-17T>C (n.5600-17T>C)
c.6146-17T>C (n.6146-17T>C)
c.5963-17T>C (n.5963-17T>C)
c.5684-17T>C (n.5684-17T>C)
c.4727-17T>C (n.4727-17T>C)
c.4718-17T>C (n.4718-17T>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.37045426T=CA1539618458NIPBLc.6344-17T= (n.6344-17T=)
c.1-19152T= (n.1-19152T=)
c.5600-17T= (n.5600-17T=)
c.6146-17T= (n.6146-17T=)
c.5963-17T= (n.5963-17T=)
c.5684-17T= (n.5684-17T=)
c.4727-17T= (n.4727-17T=)
c.4718-17T= (n.4718-17T=)
5g.37045429_37045432delCA2673581622NIPBLc.6344-14_6344-11del (n.6344-14_6344-11del)
c.1-19149_1-19146del (n.1-19149_1-19146del)
c.5600-14_5600-11del (n.5600-14_5600-11del)
c.6146-14_6146-11del (n.6146-14_6146-11del)
c.5963-14_5963-11del (n.5963-14_5963-11del)
c.5684-14_5684-11del (n.5684-14_5684-11del)
c.4727-14_4727-11del (n.4727-14_4727-11del)
c.4718-14_4718-11del (n.4718-14_4718-11del)
 gnomAD v4
5g.37045428_37045430delCA2673581623NIPBLc.6344-15_6344-13del (n.6344-15_6344-13del)
c.1-19150_1-19148del (n.1-19150_1-19148del)
c.5600-15_5600-13del (n.5600-15_5600-13del)
c.6146-15_6146-13del (n.6146-15_6146-13del)
c.5963-15_5963-13del (n.5963-15_5963-13del)
c.5684-15_5684-13del (n.5684-15_5684-13del)
c.4727-15_4727-13del (n.4727-15_4727-13del)
c.4718-15_4718-13del (n.4718-15_4718-13del)
 gnomAD v4
5g.37045429C>TCA649811332NIPBLc.6344-14C>T (n.6344-14C>T)
c.1-19149C>T (n.1-19149C>T)
c.5600-14C>T (n.5600-14C>T)
c.6146-14C>T (n.6146-14C>T)
c.5963-14C>T (n.5963-14C>T)
c.5684-14C>T (n.5684-14C>T)
c.4727-14C>T (n.4727-14C>T)
c.4718-14C>T (n.4718-14C>T)
 COSMIC
5g.37045430T>CCA3236992NIPBLc.6344-13T>C (n.6344-13T>C)
c.1-19148T>C (n.1-19148T>C)
c.5600-13T>C (n.5600-13T>C)
c.6146-13T>C (n.6146-13T>C)
c.5963-13T>C (n.5963-13T>C)
c.5684-13T>C (n.5684-13T>C)
c.4727-13T>C (n.4727-13T>C)
c.4718-13T>C (n.4718-13T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.37045430T>GCA1539618461NIPBLc.6344-13T>G (n.6344-13T>G)
c.1-19148T>G (n.1-19148T>G)
c.5600-13T>G (n.5600-13T>G)
c.6146-13T>G (n.6146-13T>G)
c.5963-13T>G (n.5963-13T>G)
c.5684-13T>G (n.5684-13T>G)
c.4727-13T>G (n.4727-13T>G)
c.4718-13T>G (n.4718-13T>G)
 dbSNP
5g.37045430T=CA1539618460NIPBLc.6344-13T= (n.6344-13T=)
c.1-19148T= (n.1-19148T=)
c.5600-13T= (n.5600-13T=)
c.6146-13T= (n.6146-13T=)
c.5963-13T= (n.5963-13T=)
c.5684-13T= (n.5684-13T=)
c.4727-13T= (n.4727-13T=)
c.4718-13T= (n.4718-13T=)
5g.37045434_37045439delCA2695204414NIPBLc.6344-9_6344-4del (n.6344-9_6344-4del)
c.1-19144_1-19139del (n.1-19144_1-19139del)
c.5600-9_5600-4del (n.5600-9_5600-4del)
c.6146-9_6146-4del (n.6146-9_6146-4del)
c.5963-9_5963-4del (n.5963-9_5963-4del)
c.5684-9_5684-4del (n.5684-9_5684-4del)
c.4727-9_4727-4del (n.4727-9_4727-4del)
c.4718-9_4718-4del (n.4718-9_4718-4del)
5g.37045432A=CA1539618462NIPBLc.6344-11A= (n.6344-11A=)
c.1-19146A= (n.1-19146A=)
c.5600-11A= (n.5600-11A=)
c.6146-11A= (n.6146-11A=)
c.5963-11A= (n.5963-11A=)
c.5684-11A= (n.5684-11A=)
c.4727-11A= (n.4727-11A=)
c.4718-11A= (n.4718-11A=)
5g.37045432A>GCA117046333NIPBLc.6344-11A>G (n.6344-11A>G)
c.1-19146A>G (n.1-19146A>G)
c.5600-11A>G (n.5600-11A>G)
c.6146-11A>G (n.6146-11A>G)
c.5963-11A>G (n.5963-11A>G)
c.5684-11A>G (n.5684-11A>G)
c.4727-11A>G (n.4727-11A>G)
c.4718-11A>G (n.4718-11A>G)
 dbSNP gnomAD v4
5g.37045433T>ACA1075097121NIPBLc.6344-10T>A (n.6344-10T>A)
c.1-19145T>A (n.1-19145T>A)
c.5600-10T>A (n.5600-10T>A)
c.6146-10T>A (n.6146-10T>A)
c.5963-10T>A (n.5963-10T>A)
c.5684-10T>A (n.5684-10T>A)
c.4727-10T>A (n.4727-10T>A)
c.4718-10T>A (n.4718-10T>A)
 dbSNP gnomAD v3 gnomAD v4
5g.37045433T>CCA3236993NIPBLc.6344-10T>C (n.6344-10T>C)
c.1-19145T>C (n.1-19145T>C)
c.5600-10T>C (n.5600-10T>C)
c.6146-10T>C (n.6146-10T>C)
c.5963-10T>C (n.5963-10T>C)
c.5684-10T>C (n.5684-10T>C)
c.4727-10T>C (n.4727-10T>C)
c.4718-10T>C (n.4718-10T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.37045433T=CA1539618464NIPBLc.6344-10T= (n.6344-10T=)
c.1-19145T= (n.1-19145T=)
c.5600-10T= (n.5600-10T=)
c.6146-10T= (n.6146-10T=)
c.5963-10T= (n.5963-10T=)
c.5684-10T= (n.5684-10T=)
c.4727-10T= (n.4727-10T=)
c.4718-10T= (n.4718-10T=)
5g.37045434C>ACA2673581624NIPBLc.6344-9C>A (n.6344-9C>A)
c.1-19144C>A (n.1-19144C>A)
c.5600-9C>A (n.5600-9C>A)
c.6146-9C>A (n.6146-9C>A)
c.5963-9C>A (n.5963-9C>A)
c.5684-9C>A (n.5684-9C>A)
c.4727-9C>A (n.4727-9C>A)
c.4718-9C>A (n.4718-9C>A)
 gnomAD v4
5g.37045434C>TCA2673581625NIPBLc.6344-9C>T (n.6344-9C>T)
c.1-19144C>T (n.1-19144C>T)
c.5600-9C>T (n.5600-9C>T)
c.6146-9C>T (n.6146-9C>T)
c.5963-9C>T (n.5963-9C>T)
c.5684-9C>T (n.5684-9C>T)
c.4727-9C>T (n.4727-9C>T)
c.4718-9C>T (n.4718-9C>T)
 gnomAD v4
5g.37045435T>GCA2578289495NIPBLc.6344-8T>G (n.6344-8T>G)
c.1-19143T>G (n.1-19143T>G)
c.5600-8T>G (n.5600-8T>G)
c.6146-8T>G (n.6146-8T>G)
c.5963-8T>G (n.5963-8T>G)
c.5684-8T>G (n.5684-8T>G)
c.4727-8T>G (n.4727-8T>G)
c.4718-8T>G (n.4718-8T>G)
 gnomAD v4
5g.37045438A>GCA2578289496NIPBLc.6344-5A>G (n.6344-5A>G)
c.1-19140A>G (n.1-19140A>G)
c.5600-5A>G (n.5600-5A>G)
c.6146-5A>G (n.6146-5A>G)
c.5963-5A>G (n.5963-5A>G)
c.5684-5A>G (n.5684-5A>G)
c.4727-5A>G (n.4727-5A>G)
c.4718-5A>G (n.4718-5A>G)
5g.37045440T>CCA2673581626NIPBLc.6344-3T>C (n.6344-3T>C)
c.1-19138T>C (n.1-19138T>C)
c.5600-3T>C (n.5600-3T>C)
c.6146-3T>C (n.6146-3T>C)
c.5963-3T>C (n.5963-3T>C)
c.5684-3T>C (n.5684-3T>C)
c.4727-3T>C (n.4727-3T>C)
c.4718-3T>C (n.4718-3T>C)
 gnomAD v4
5g.37045441A>CCA359503915NIPBLc.6344-2A>C (n.6344-2A>C)
c.1-19137A>C (n.1-19137A>C)
c.5600-2A>C (n.5600-2A>C)
c.6146-2A>C (n.6146-2A>C)
c.5963-2A>C (n.5963-2A>C)
c.5684-2A>C (n.5684-2A>C)
c.4727-2A>C (n.4727-2A>C)
c.4718-2A>C (n.4718-2A>C)
5g.37045441A>GCA359503916NIPBLc.6344-2A>G (n.6344-2A>G)
c.1-19137A>G (n.1-19137A>G)
c.5600-2A>G (n.5600-2A>G)
c.6146-2A>G (n.6146-2A>G)
c.5963-2A>G (n.5963-2A>G)
c.5684-2A>G (n.5684-2A>G)
c.4727-2A>G (n.4727-2A>G)
c.4718-2A>G (n.4718-2A>G)
5g.37045441A>TCA359503923NIPBLc.6344-2A>T (n.6344-2A>T)
c.1-19137A>T (n.1-19137A>T)
c.5600-2A>T (n.5600-2A>T)
c.6146-2A>T (n.6146-2A>T)
c.5963-2A>T (n.5963-2A>T)
c.5684-2A>T (n.5684-2A>T)
c.4727-2A>T (n.4727-2A>T)
c.4718-2A>T (n.4718-2A>T)
5g.37045442G>ACA359503925NIPBLc.6344-1G>A (n.6344-1G>A)
c.1-19136G>A (n.1-19136G>A)
c.5600-1G>A (n.5600-1G>A)
c.6146-1G>A (n.6146-1G>A)
c.5963-1G>A (n.5963-1G>A)
c.5684-1G>A (n.5684-1G>A)
c.4727-1G>A (n.4727-1G>A)
c.4718-1G>A (n.4718-1G>A)
 ClinVar
5g.37045442G>CCA359503931NIPBLc.6344-1G>C (n.6344-1G>C)
c.1-19136G>C (n.1-19136G>C)
c.5600-1G>C (n.5600-1G>C)
c.6146-1G>C (n.6146-1G>C)
c.5963-1G>C (n.5963-1G>C)
c.5684-1G>C (n.5684-1G>C)
c.4727-1G>C (n.4727-1G>C)
c.4718-1G>C (n.4718-1G>C)
5g.37045442G>TCA359503941NIPBLc.6344-1G>T (n.6344-1G>T)
c.1-19136G>T (n.1-19136G>T)
c.5600-1G>T (n.5600-1G>T)
c.6146-1G>T (n.6146-1G>T)
c.5963-1G>T (n.5963-1G>T)
c.5684-1G>T (n.5684-1G>T)
c.4727-1G>T (n.4727-1G>T)
c.4718-1G>T (n.4718-1G>T)
5g.37045443G>ACA359503944NIPBLc.6344G>A (p.Gly2115Asp)
c.1-19135G>A (n.1-19135G>A)
c.5600G>A (p.Gly1867Asp)
c.6146G>A (p.Gly2049Asp)
c.5963G>A (p.Gly1988Asp)
c.5684G>A (p.Gly1895Asp)
c.4727G>A (p.Gly1576Asp)
c.4718G>A (p.Gly1573Asp)
5g.37045443G>CCA359503947NIPBLc.6344G>C (p.Gly2115Ala)
c.1-19135G>C (n.1-19135G>C)
c.5600G>C (p.Gly1867Ala)
c.6146G>C (p.Gly2049Ala)
c.5963G>C (p.Gly1988Ala)
c.5684G>C (p.Gly1895Ala)
c.4727G>C (p.Gly1576Ala)
c.4718G>C (p.Gly1573Ala)
5g.37045443G>TCA359503950NIPBLc.6344G>T (p.Gly2115Val)
c.1-19135G>T (n.1-19135G>T)
c.5600G>T (p.Gly1867Val)
c.6146G>T (p.Gly2049Val)
c.5963G>T (p.Gly1988Val)
c.5684G>T (p.Gly1895Val)
c.4727G>T (p.Gly1576Val)
c.4718G>T (p.Gly1573Val)
5g.37045444T>ACA443906546NIPBLc.6345T>A (p.Gly2115=)
c.1-19134T>A (n.1-19134T>A)
c.5601T>A (p.Gly1867=)
c.6147T>A (p.Gly2049=)
c.5964T>A (p.Gly1988=)
c.5685T>A (p.Gly1895=)
c.4728T>A (p.Gly1576=)
c.4719T>A (p.Gly1573=)
5g.37045444T>CCA443906549NIPBLc.6345T>C (p.Gly2115=)
c.1-19134T>C (n.1-19134T>C)
c.5601T>C (p.Gly1867=)
c.6147T>C (p.Gly2049=)
c.5964T>C (p.Gly1988=)
c.5685T>C (p.Gly1895=)
c.4728T>C (p.Gly1576=)
c.4719T>C (p.Gly1573=)
 gnomAD v4
5g.37045444T>GCA443906552NIPBLc.6345T>G (p.Gly2115=)
c.1-19134T>G (n.1-19134T>G)
c.5601T>G (p.Gly1867=)
c.6147T>G (p.Gly2049=)
c.5964T>G (p.Gly1988=)
c.5685T>G (p.Gly1895=)
c.4728T>G (p.Gly1576=)
c.4719T>G (p.Gly1573=)
5g.37045445G>ACA359503952NIPBLc.6346G>A (p.Ala2116Thr)
c.1-19133G>A (n.1-19133G>A)
c.5602G>A (p.Ala1868Thr)
c.6148G>A (p.Ala2050Thr)
c.5965G>A (p.Ala1989Thr)
c.5686G>A (p.Ala1896Thr)
c.4729G>A (p.Ala1577Thr)
c.4720G>A (p.Ala1574Thr)
 gnomAD v3 gnomAD v4
5g.37045445G>CCA359503953NIPBLc.6346G>C (p.Ala2116Pro)
c.1-19133G>C (n.1-19133G>C)
c.5602G>C (p.Ala1868Pro)
c.6148G>C (p.Ala2050Pro)
c.5965G>C (p.Ala1989Pro)
c.5686G>C (p.Ala1896Pro)
c.4729G>C (p.Ala1577Pro)
c.4720G>C (p.Ala1574Pro)
5g.37045445G>TCA359503954NIPBLc.6346G>T (p.Ala2116Ser)
c.1-19133G>T (n.1-19133G>T)
c.5602G>T (p.Ala1868Ser)
c.6148G>T (p.Ala2050Ser)
c.5965G>T (p.Ala1989Ser)
c.5686G>T (p.Ala1896Ser)
c.4729G>T (p.Ala1577Ser)
c.4720G>T (p.Ala1574Ser)
5g.37045446C>ACA359503959NIPBLc.6347C>A (p.Ala2116Asp)
c.1-19132C>A (n.1-19132C>A)
c.5603C>A (p.Ala1868Asp)
c.6149C>A (p.Ala2050Asp)
c.5966C>A (p.Ala1989Asp)
c.5687C>A (p.Ala1896Asp)
c.4730C>A (p.Ala1577Asp)
c.4721C>A (p.Ala1574Asp)
5g.37045446C>GCA359503961NIPBLc.6347C>G (p.Ala2116Gly)
c.1-19132C>G (n.1-19132C>G)
c.5603C>G (p.Ala1868Gly)
c.6149C>G (p.Ala2050Gly)
c.5966C>G (p.Ala1989Gly)
c.5687C>G (p.Ala1896Gly)
c.4730C>G (p.Ala1577Gly)
c.4721C>G (p.Ala1574Gly)
5g.37045446C>TCA359503957NIPBLc.6347C>T (p.Ala2116Val)
c.1-19132C>T (n.1-19132C>T)
c.5603C>T (p.Ala1868Val)
c.6149C>T (p.Ala2050Val)
c.5966C>T (p.Ala1989Val)
c.5687C>T (p.Ala1896Val)
c.4730C>T (p.Ala1577Val)
c.4721C>T (p.Ala1574Val)
 gnomAD v4
5g.37045447C>ACA443906568NIPBLc.6348C>A (p.Ala2116=)
c.1-19131C>A (n.1-19131C>A)
c.5604C>A (p.Ala1868=)
c.6150C>A (p.Ala2050=)
c.5967C>A (p.Ala1989=)
c.5688C>A (p.Ala1896=)
c.4731C>A (p.Ala1577=)
c.4722C>A (p.Ala1574=)
 gnomAD v4
5g.37045447C=CA1539618466NIPBLc.6348C= (p.Ala2116=)
c.1-19131C= (n.1-19131C=)
c.5604C= (p.Ala1868=)
c.6150C= (p.Ala2050=)
c.5967C= (p.Ala1989=)
c.5688C= (p.Ala1896=)
c.4731C= (p.Ala1577=)
c.4722C= (p.Ala1574=)
5g.37045447C>GCA443906572NIPBLc.6348C>G (p.Ala2116=)
c.1-19131C>G (n.1-19131C>G)
c.5604C>G (p.Ala1868=)
c.6150C>G (p.Ala2050=)
c.5967C>G (p.Ala1989=)
c.5688C>G (p.Ala1896=)
c.4731C>G (p.Ala1577=)
c.4722C>G (p.Ala1574=)
 dbSNP gnomAD v3 gnomAD v4
5g.37045447C>TCA443906570NIPBLc.6348C>T (p.Ala2116=)
c.1-19131C>T (n.1-19131C>T)
c.5604C>T (p.Ala1868=)
c.6150C>T (p.Ala2050=)
c.5967C>T (p.Ala1989=)
c.5688C>T (p.Ala1896=)
c.4731C>T (p.Ala1577=)
c.4722C>T (p.Ala1574=)
5g.37045448A>CCA359503963NIPBLc.6349A>C (p.Ile2117Leu)
c.1-19130A>C (n.1-19130A>C)
c.5605A>C (p.Ile1869Leu)
c.6151A>C (p.Ile2051Leu)
c.5968A>C (p.Ile1990Leu)
c.5689A>C (p.Ile1897Leu)
c.4732A>C (p.Ile1578Leu)
c.4723A>C (p.Ile1575Leu)
 gnomAD v4
5g.37045448A>GCA359503967NIPBLc.6349A>G (p.Ile2117Val)
c.1-19130A>G (n.1-19130A>G)
c.5605A>G (p.Ile1869Val)
c.6151A>G (p.Ile2051Val)
c.5968A>G (p.Ile1990Val)
c.5689A>G (p.Ile1897Val)
c.4732A>G (p.Ile1578Val)
c.4723A>G (p.Ile1575Val)
5g.37045448A>TCA359503964NIPBLc.6349A>T (p.Ile2117Phe)
c.1-19130A>T (n.1-19130A>T)
c.5605A>T (p.Ile1869Phe)
c.6151A>T (p.Ile2051Phe)
c.5968A>T (p.Ile1990Phe)
c.5689A>T (p.Ile1897Phe)
c.4732A>T (p.Ile1578Phe)
c.4723A>T (p.Ile1575Phe)
5g.37045449T>ACA359503970NIPBLc.6350T>A (p.Ile2117Asn)
c.1-19129T>A (n.1-19129T>A)
c.5606T>A (p.Ile1869Asn)
c.6152T>A (p.Ile2051Asn)
c.5969T>A (p.Ile1990Asn)
c.5690T>A (p.Ile1897Asn)
c.4733T>A (p.Ile1578Asn)
c.4724T>A (p.Ile1575Asn)
5g.37045449T>CCA359503975NIPBLc.6350T>C (p.Ile2117Thr)
c.1-19129T>C (n.1-19129T>C)
c.5606T>C (p.Ile1869Thr)
c.6152T>C (p.Ile2051Thr)
c.5969T>C (p.Ile1990Thr)
c.5690T>C (p.Ile1897Thr)
c.4733T>C (p.Ile1578Thr)
c.4724T>C (p.Ile1575Thr)
5g.37045449T>GCA359503973NIPBLc.6350T>G (p.Ile2117Ser)
c.1-19129T>G (n.1-19129T>G)
c.5606T>G (p.Ile1869Ser)
c.6152T>G (p.Ile2051Ser)
c.5969T>G (p.Ile1990Ser)
c.5690T>G (p.Ile1897Ser)
c.4733T>G (p.Ile1578Ser)
c.4724T>G (p.Ile1575Ser)
5g.37045450T>ACA443906582NIPBLc.6351T>A (p.Ile2117=)
c.1-19128T>A (n.1-19128T>A)
c.5607T>A (p.Ile1869=)
c.6153T>A (p.Ile2051=)
c.5970T>A (p.Ile1990=)
c.5691T>A (p.Ile1897=)
c.4734T>A (p.Ile1578=)
c.4725T>A (p.Ile1575=)
5g.37045450T>CCA443906584NIPBLc.6351T>C (p.Ile2117=)
c.1-19128T>C (n.1-19128T>C)
c.5607T>C (p.Ile1869=)
c.6153T>C (p.Ile2051=)
c.5970T>C (p.Ile1990=)
c.5691T>C (p.Ile1897=)
c.4734T>C (p.Ile1578=)
c.4725T>C (p.Ile1575=)
5g.37045450T>GCA359503976NIPBLc.6351T>G (p.Ile2117Met)
c.1-19128T>G (n.1-19128T>G)
c.5607T>G (p.Ile1869Met)
c.6153T>G (p.Ile2051Met)
c.5970T>G (p.Ile1990Met)
c.5691T>G (p.Ile1897Met)
c.4734T>G (p.Ile1578Met)
c.4725T>G (p.Ile1575Met)
5g.37045451T>ACA359503985NIPBLc.6352T>A (p.Ser2118Thr)
c.1-19127T>A (n.1-19127T>A)
c.5608T>A (p.Ser1870Thr)
c.6154T>A (p.Ser2052Thr)
c.5971T>A (p.Ser1991Thr)
c.5692T>A (p.Ser1898Thr)
c.4735T>A (p.Ser1579Thr)
c.4726T>A (p.Ser1576Thr)
5g.37045451T>CCA359503980NIPBLc.6352T>C (p.Ser2118Pro)
c.1-19127T>C (n.1-19127T>C)
c.5608T>C (p.Ser1870Pro)
c.6154T>C (p.Ser2052Pro)
c.5971T>C (p.Ser1991Pro)
c.5692T>C (p.Ser1898Pro)
c.4735T>C (p.Ser1579Pro)
c.4726T>C (p.Ser1576Pro)
5g.37045451T>GCA359503983NIPBLc.6352T>G (p.Ser2118Ala)
c.1-19127T>G (n.1-19127T>G)
c.5608T>G (p.Ser1870Ala)
c.6154T>G (p.Ser2052Ala)
c.5971T>G (p.Ser1991Ala)
c.5692T>G (p.Ser1898Ala)
c.4735T>G (p.Ser1579Ala)
c.4726T>G (p.Ser1576Ala)
5g.37045452C>ACA359503988NIPBLc.6353C>A (p.Ser2118Ter)
c.1-19126C>A (n.1-19126C>A)
c.5609C>A (p.Ser1870Ter)
c.6155C>A (p.Ser2052Ter)
c.5972C>A (p.Ser1991Ter)
c.5693C>A (p.Ser1898Ter)
c.4736C>A (p.Ser1579Ter)
c.4727C>A (p.Ser1576Ter)
5g.37045452C>GCA359503991NIPBLc.6353C>G (p.Ser2118Ter)
c.1-19126C>G (n.1-19126C>G)
c.5609C>G (p.Ser1870Ter)
c.6155C>G (p.Ser2052Ter)
c.5972C>G (p.Ser1991Ter)
c.5693C>G (p.Ser1898Ter)
c.4736C>G (p.Ser1579Ter)
c.4727C>G (p.Ser1576Ter)
5g.37045452C>TCA359503994NIPBLc.6353C>T (p.Ser2118Leu)
c.1-19126C>T (n.1-19126C>T)
c.5609C>T (p.Ser1870Leu)
c.6155C>T (p.Ser2052Leu)
c.5972C>T (p.Ser1991Leu)
c.5693C>T (p.Ser1898Leu)
c.4736C>T (p.Ser1579Leu)
c.4727C>T (p.Ser1576Leu)
5g.37045453A>CCA443906595NIPBLc.6354A>C (p.Ser2118=)
c.1-19125A>C (n.1-19125A>C)
c.5610A>C (p.Ser1870=)
c.6156A>C (p.Ser2052=)
c.5973A>C (p.Ser1991=)
c.5694A>C (p.Ser1898=)
c.4737A>C (p.Ser1579=)
c.4728A>C (p.Ser1576=)
5g.37045453A>GCA443906597NIPBLc.6354A>G (p.Ser2118=)
c.1-19125A>G (n.1-19125A>G)
c.5610A>G (p.Ser1870=)
c.6156A>G (p.Ser2052=)
c.5973A>G (p.Ser1991=)
c.5694A>G (p.Ser1898=)
c.4737A>G (p.Ser1579=)
c.4728A>G (p.Ser1576=)
5g.37045453A>TCA443906599NIPBLc.6354A>T (p.Ser2118=)
c.1-19125A>T (n.1-19125A>T)
c.5610A>T (p.Ser1870=)
c.6156A>T (p.Ser2052=)
c.5973A>T (p.Ser1991=)
c.5694A>T (p.Ser1898=)
c.4737A>T (p.Ser1579=)
c.4728A>T (p.Ser1576=)
5g.37045454A>CCA359503996NIPBLc.6355A>C (p.Lys2119Gln)
c.1-19124A>C (n.1-19124A>C)
c.5611A>C (p.Lys1871Gln)
c.6157A>C (p.Lys2053Gln)
c.5974A>C (p.Lys1992Gln)
c.5695A>C (p.Lys1899Gln)
c.4738A>C (p.Lys1580Gln)
c.4729A>C (p.Lys1577Gln)
5g.37045454A>GCA359503998NIPBLc.6355A>G (p.Lys2119Glu)
c.1-19124A>G (n.1-19124A>G)
c.5611A>G (p.Lys1871Glu)
c.6157A>G (p.Lys2053Glu)
c.5974A>G (p.Lys1992Glu)
c.5695A>G (p.Lys1899Glu)
c.4738A>G (p.Lys1580Glu)
c.4729A>G (p.Lys1577Glu)
5g.37045454A>TCA359504003NIPBLc.6355A>T (p.Lys2119Ter)
c.1-19124A>T (n.1-19124A>T)
c.5611A>T (p.Lys1871Ter)
c.6157A>T (p.Lys2053Ter)
c.5974A>T (p.Lys1992Ter)
c.5695A>T (p.Lys1899Ter)
c.4738A>T (p.Lys1580Ter)
c.4729A>T (p.Lys1577Ter)
5g.37045455A=CA1539618468NIPBLc.6356A= (p.Lys2119=)
c.1-19123A= (n.1-19123A=)
c.5612A= (p.Lys1871=)
c.6158A= (p.Lys2053=)
c.5975A= (p.Lys1992=)
c.5696A= (p.Lys1899=)
c.4739A= (p.Lys1580=)
c.4730A= (p.Lys1577=)
5g.37045455A>CCA359504009NIPBLc.6356A>C (p.Lys2119Thr)
c.1-19123A>C (n.1-19123A>C)
c.5612A>C (p.Lys1871Thr)
c.6158A>C (p.Lys2053Thr)
c.5975A>C (p.Lys1992Thr)
c.5696A>C (p.Lys1899Thr)
c.4739A>C (p.Lys1580Thr)
c.4730A>C (p.Lys1577Thr)
5g.37045455A>GCA117046355NIPBLc.6356A>G (p.Lys2119Arg)
c.1-19123A>G (n.1-19123A>G)
c.5612A>G (p.Lys1871Arg)
c.6158A>G (p.Lys2053Arg)
c.5975A>G (p.Lys1992Arg)
c.5696A>G (p.Lys1899Arg)
c.4739A>G (p.Lys1580Arg)
c.4730A>G (p.Lys1577Arg)
 dbSNP gnomAD v4 COSMIC COSMIC
5g.37045455A>TCA359504018NIPBLc.6356A>T (p.Lys2119Ile)
c.1-19123A>T (n.1-19123A>T)
c.5612A>T (p.Lys1871Ile)
c.6158A>T (p.Lys2053Ile)
c.5975A>T (p.Lys1992Ile)
c.5696A>T (p.Lys1899Ile)
c.4739A>T (p.Lys1580Ile)
c.4730A>T (p.Lys1577Ile)
5g.37045456A>CCA359504025NIPBLc.6357A>C (p.Lys2119Asn)
c.1-19122A>C (n.1-19122A>C)
c.5613A>C (p.Lys1871Asn)
c.6159A>C (p.Lys2053Asn)
c.5976A>C (p.Lys1992Asn)
c.5697A>C (p.Lys1899Asn)
c.4740A>C (p.Lys1580Asn)
c.4731A>C (p.Lys1577Asn)
5g.37045456A>GCA443906612NIPBLc.6357A>G (p.Lys2119=)
c.1-19122A>G (n.1-19122A>G)
c.5613A>G (p.Lys1871=)
c.6159A>G (p.Lys2053=)
c.5976A>G (p.Lys1992=)
c.5697A>G (p.Lys1899=)
c.4740A>G (p.Lys1580=)
c.4731A>G (p.Lys1577=)
 gnomAD v4
5g.37045456A>TCA359504027NIPBLc.6357A>T (p.Lys2119Asn)
c.1-19122A>T (n.1-19122A>T)
c.5613A>T (p.Lys1871Asn)
c.6159A>T (p.Lys2053Asn)
c.5976A>T (p.Lys1992Asn)
c.5697A>T (p.Lys1899Asn)
c.4740A>T (p.Lys1580Asn)
c.4731A>T (p.Lys1577Asn)
5g.37045457T>ACA359504034NIPBLc.6358T>A (p.Leu2120Ile)
c.1-19121T>A (n.1-19121T>A)
c.5614T>A (p.Leu1872Ile)
c.6160T>A (p.Leu2054Ile)
c.5977T>A (p.Leu1993Ile)
c.5698T>A (p.Leu1900Ile)
c.4741T>A (p.Leu1581Ile)
c.4732T>A (p.Leu1578Ile)
5g.37045457T>CCA443906614NIPBLc.6358T>C (p.Leu2120=)
c.1-19121T>C (n.1-19121T>C)
c.5614T>C (p.Leu1872=)
c.6160T>C (p.Leu2054=)
c.5977T>C (p.Leu1993=)
c.5698T>C (p.Leu1900=)
c.4741T>C (p.Leu1581=)
c.4732T>C (p.Leu1578=)
5g.37045457T>GCA359504035NIPBLc.6358T>G (p.Leu2120Val)
c.1-19121T>G (n.1-19121T>G)
c.5614T>G (p.Leu1872Val)
c.6160T>G (p.Leu2054Val)
c.5977T>G (p.Leu1993Val)
c.5698T>G (p.Leu1900Val)
c.4741T>G (p.Leu1581Val)
c.4732T>G (p.Leu1578Val)
5g.37045458T>ACA359504039NIPBLc.6359T>A (p.Leu2120Ter)
c.1-19120T>A (n.1-19120T>A)
c.5615T>A (p.Leu1872Ter)
c.6161T>A (p.Leu2054Ter)
c.5978T>A (p.Leu1993Ter)
c.5699T>A (p.Leu1900Ter)
c.4742T>A (p.Leu1581Ter)
c.4733T>A (p.Leu1578Ter)
 COSMIC COSMIC
5g.37045458T>CCA359504043NIPBLc.6359T>C (p.Leu2120Ser)
c.1-19120T>C (n.1-19120T>C)
c.5615T>C (p.Leu1872Ser)
c.6161T>C (p.Leu2054Ser)
c.5978T>C (p.Leu1993Ser)
c.5699T>C (p.Leu1900Ser)
c.4742T>C (p.Leu1581Ser)
c.4733T>C (p.Leu1578Ser)
5g.37045458T>GCA359504041NIPBLc.6359T>G (p.Leu2120Ter)
c.1-19120T>G (n.1-19120T>G)
c.5615T>G (p.Leu1872Ter)
c.6161T>G (p.Leu2054Ter)
c.5978T>G (p.Leu1993Ter)
c.5699T>G (p.Leu1900Ter)
c.4742T>G (p.Leu1581Ter)
c.4733T>G (p.Leu1578Ter)
 ClinVar dbSNP
5g.37045458_37045461delinsTAAACA1539618471NIPBLc.6359_6362delinsTAAA (p.Leu2120=)
c.1-19120_1-19117delinsTAAA (n.1-19120_1-19117delinsTAAA)
c.5615_5618delinsTAAA (p.Leu1872=)
c.6161_6164delinsTAAA (p.Leu2054=)
c.5978_5981delinsTAAA (p.Leu1993=)
c.5699_5702delinsTAAA (p.Leu1900=)
c.4742_4745delinsTAAA (p.Leu1581=)
c.4733_4736delinsTAAA (p.Leu1578=)
5g.37045459A>CCA359504046NIPBLc.6360A>C (p.Leu2120Phe)
c.1-19119A>C (n.1-19119A>C)
c.5616A>C (p.Leu1872Phe)
c.6162A>C (p.Leu2054Phe)
c.5979A>C (p.Leu1993Phe)
c.5700A>C (p.Leu1900Phe)
c.4743A>C (p.Leu1581Phe)
c.4734A>C (p.Leu1578Phe)
5g.37045459A>GCA443906619NIPBLc.6360A>G (p.Leu2120=)
c.1-19119A>G (n.1-19119A>G)
c.5616A>G (p.Leu1872=)
c.6162A>G (p.Leu2054=)
c.5979A>G (p.Leu1993=)
c.5700A>G (p.Leu1900=)
c.4743A>G (p.Leu1581=)
c.4734A>G (p.Leu1578=)
5g.37045459A>TCA359504047NIPBLc.6360A>T (p.Leu2120Phe)
c.1-19119A>T (n.1-19119A>T)
c.5616A>T (p.Leu1872Phe)
c.6162A>T (p.Leu2054Phe)
c.5979A>T (p.Leu1993Phe)
c.5700A>T (p.Leu1900Phe)
c.4743A>T (p.Leu1581Phe)
c.4734A>T (p.Leu1578Phe)
5g.37045461_37045463delCA272225NIPBLc.6362_6364del (p.Lys2121del)
c.1-19117_1-19115del (n.1-19117_1-19115del)
c.5618_5620del (p.Lys1873del)
c.6164_6166del (p.Lys2055del)
c.5981_5983del (p.Lys1994del)
c.5702_5704del (p.Lys1901del)
c.4745_4747del (p.Lys1582del)
c.4736_4738del (p.Lys1579del)
 ClinVar dbSNP
5g.37045460A>CCA359504051NIPBLc.6361A>C (p.Lys2121Gln)
c.1-19118A>C (n.1-19118A>C)
c.5617A>C (p.Lys1873Gln)
c.6163A>C (p.Lys2055Gln)
c.5980A>C (p.Lys1994Gln)
c.5701A>C (p.Lys1901Gln)
c.4744A>C (p.Lys1582Gln)
c.4735A>C (p.Lys1579Gln)
5g.37045460A>GCA359504052NIPBLc.6361A>G (p.Lys2121Glu)
c.1-19118A>G (n.1-19118A>G)
c.5617A>G (p.Lys1873Glu)
c.6163A>G (p.Lys2055Glu)
c.5980A>G (p.Lys1994Glu)
c.5701A>G (p.Lys1901Glu)
c.4744A>G (p.Lys1582Glu)
c.4735A>G (p.Lys1579Glu)
5g.37045460A>TCA359504055NIPBLc.6361A>T (p.Lys2121Ter)
c.1-19118A>T (n.1-19118A>T)
c.5617A>T (p.Lys1873Ter)
c.6163A>T (p.Lys2055Ter)
c.5980A>T (p.Lys1994Ter)
c.5701A>T (p.Lys1901Ter)
c.4744A>T (p.Lys1582Ter)
c.4735A>T (p.Lys1579Ter)
5g.37045461A=CA1539618475NIPBLc.6362A= (p.Lys2121=)
c.1-19117A= (n.1-19117A=)
c.5618A= (p.Lys1873=)
c.6164A= (p.Lys2055=)
c.5981A= (p.Lys1994=)
c.5702A= (p.Lys1901=)
c.4745A= (p.Lys1582=)
c.4736A= (p.Lys1579=)
5g.37045461A>CCA359504059NIPBLc.6362A>C (p.Lys2121Thr)
c.1-19117A>C (n.1-19117A>C)
c.5618A>C (p.Lys1873Thr)
c.6164A>C (p.Lys2055Thr)
c.5981A>C (p.Lys1994Thr)
c.5702A>C (p.Lys1901Thr)
c.4745A>C (p.Lys1582Thr)
c.4736A>C (p.Lys1579Thr)
5g.37045461A>GCA359504060NIPBLc.6362A>G (p.Lys2121Arg)
c.1-19117A>G (n.1-19117A>G)
c.5618A>G (p.Lys1873Arg)
c.6164A>G (p.Lys2055Arg)
c.5981A>G (p.Lys1994Arg)
c.5702A>G (p.Lys1901Arg)
c.4745A>G (p.Lys1582Arg)
c.4736A>G (p.Lys1579Arg)
 dbSNP
5g.37045461A>TCA359504063NIPBLc.6362A>T (p.Lys2121Ile)
c.1-19117A>T (n.1-19117A>T)
c.5618A>T (p.Lys1873Ile)
c.6164A>T (p.Lys2055Ile)
c.5981A>T (p.Lys1994Ile)
c.5702A>T (p.Lys1901Ile)
c.4745A>T (p.Lys1582Ile)
c.4736A>T (p.Lys1579Ile)
5g.37045462A>CCA359504064NIPBLc.6363A>C (p.Lys2121Asn)
c.1-19116A>C (n.1-19116A>C)
c.5619A>C (p.Lys1873Asn)
c.6165A>C (p.Lys2055Asn)
c.5982A>C (p.Lys1994Asn)
c.5703A>C (p.Lys1901Asn)
c.4746A>C (p.Lys1582Asn)
c.4737A>C (p.Lys1579Asn)
5g.37045462A>GCA443906634NIPBLc.6363A>G (p.Lys2121=)
c.1-19116A>G (n.1-19116A>G)
c.5619A>G (p.Lys1873=)
c.6165A>G (p.Lys2055=)
c.5982A>G (p.Lys1994=)
c.5703A>G (p.Lys1901=)
c.4746A>G (p.Lys1582=)
c.4737A>G (p.Lys1579=)
5g.37045462A>TCA359504066NIPBLc.6363A>T (p.Lys2121Asn)
c.1-19116A>T (n.1-19116A>T)
c.5619A>T (p.Lys1873Asn)
c.6165A>T (p.Lys2055Asn)
c.5982A>T (p.Lys1994Asn)
c.5703A>T (p.Lys1901Asn)
c.4746A>T (p.Lys1582Asn)
c.4737A>T (p.Lys1579Asn)
5g.37045463A=CA1539618476NIPBLc.6364A= (p.Ser2122=)
c.1-19115A= (n.1-19115A=)
c.5620A= (p.Ser1874=)
c.6166A= (p.Ser2056=)
c.5983A= (p.Ser1995=)
c.5704A= (p.Ser1902=)
c.4747A= (p.Ser1583=)
c.4738A= (p.Ser1580=)
5g.37045463A>CCA359504068NIPBLc.6364A>C (p.Ser2122Arg)
c.1-19115A>C (n.1-19115A>C)
c.5620A>C (p.Ser1874Arg)
c.6166A>C (p.Ser2056Arg)
c.5983A>C (p.Ser1995Arg)
c.5704A>C (p.Ser1902Arg)
c.4747A>C (p.Ser1583Arg)
c.4738A>C (p.Ser1580Arg)
5g.37045463A>GCA3236994NIPBLc.6364A>G (p.Ser2122Gly)
c.1-19115A>G (n.1-19115A>G)
c.5620A>G (p.Ser1874Gly)
c.6166A>G (p.Ser2056Gly)
c.5983A>G (p.Ser1995Gly)
c.5704A>G (p.Ser1902Gly)
c.4747A>G (p.Ser1583Gly)
c.4738A>G (p.Ser1580Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.37045463A>TCA359504069NIPBLc.6364A>T (p.Ser2122Cys)
c.1-19115A>T (n.1-19115A>T)
c.5620A>T (p.Ser1874Cys)
c.6166A>T (p.Ser2056Cys)
c.5983A>T (p.Ser1995Cys)
c.5704A>T (p.Ser1902Cys)
c.4747A>T (p.Ser1583Cys)
c.4738A>T (p.Ser1580Cys)
5g.37045464G>ACA359504075NIPBLc.6365G>A (p.Ser2122Asn)
c.1-19114G>A (n.1-19114G>A)
c.5621G>A (p.Ser1874Asn)
c.6167G>A (p.Ser2056Asn)
c.5984G>A (p.Ser1995Asn)
c.5705G>A (p.Ser1902Asn)
c.4748G>A (p.Ser1583Asn)
c.4739G>A (p.Ser1580Asn)
 gnomAD v4 COSMIC COSMIC
5g.37045464G>CCA359504078NIPBLc.6365G>C (p.Ser2122Thr)
c.1-19114G>C (n.1-19114G>C)
c.5621G>C (p.Ser1874Thr)
c.6167G>C (p.Ser2056Thr)
c.5984G>C (p.Ser1995Thr)
c.5705G>C (p.Ser1902Thr)
c.4748G>C (p.Ser1583Thr)
c.4739G>C (p.Ser1580Thr)
5g.37045464G>TCA359504079NIPBLc.6365G>T (p.Ser2122Ile)
c.1-19114G>T (n.1-19114G>T)
c.5621G>T (p.Ser1874Ile)
c.6167G>T (p.Ser2056Ile)
c.5984G>T (p.Ser1995Ile)
c.5705G>T (p.Ser1902Ile)
c.4748G>T (p.Ser1583Ile)
c.4739G>T (p.Ser1580Ile)
5g.37045464_37045466delCA2560312538NIPBLc.6365_6367del (p.Ser2122_Gln2123delinsLys)
c.1-19114_1-19112del (n.1-19114_1-19112del)
c.5621_5623del (p.Ser1874_Gln1875delinsLys)
c.6167_6169del (p.Ser2056_Gln2057delinsLys)
c.5984_5986del (p.Ser1995_Gln1996delinsLys)
c.5705_5707del (p.Ser1902_Gln1903delinsLys)
c.4748_4750del (p.Ser1583_Gln1584delinsLys)
c.4739_4741del (p.Ser1580_Gln1581delinsLys)
5g.37045465T>ACA359504080NIPBLc.6366T>A (p.Ser2122Arg)
c.1-19113T>A (n.1-19113T>A)
c.5622T>A (p.Ser1874Arg)
c.6168T>A (p.Ser2056Arg)
c.5985T>A (p.Ser1995Arg)
c.5706T>A (p.Ser1902Arg)
c.4749T>A (p.Ser1583Arg)
c.4740T>A (p.Ser1580Arg)
5g.37045465T>CCA443906650NIPBLc.6366T>C (p.Ser2122=)
c.1-19113T>C (n.1-19113T>C)
c.5622T>C (p.Ser1874=)
c.6168T>C (p.Ser2056=)
c.5985T>C (p.Ser1995=)
c.5706T>C (p.Ser1902=)
c.4749T>C (p.Ser1583=)
c.4740T>C (p.Ser1580=)
5g.37045465T>GCA359504081NIPBLc.6366T>G (p.Ser2122Arg)
c.1-19113T>G (n.1-19113T>G)
c.5622T>G (p.Ser1874Arg)
c.6168T>G (p.Ser2056Arg)
c.5985T>G (p.Ser1995Arg)
c.5706T>G (p.Ser1902Arg)
c.4749T>G (p.Ser1583Arg)
c.4740T>G (p.Ser1580Arg)
5g.37045466C>ACA359504082NIPBLc.6367C>A (p.Gln2123Lys)
c.1-19112C>A (n.1-19112C>A)
c.5623C>A (p.Gln1875Lys)
c.6169C>A (p.Gln2057Lys)
c.5986C>A (p.Gln1996Lys)
c.5707C>A (p.Gln1903Lys)
c.4750C>A (p.Gln1584Lys)
c.4741C>A (p.Gln1581Lys)
5g.37045466C>GCA359504083NIPBLc.6367C>G (p.Gln2123Glu)
c.1-19112C>G (n.1-19112C>G)
c.5623C>G (p.Gln1875Glu)
c.6169C>G (p.Gln2057Glu)
c.5986C>G (p.Gln1996Glu)
c.5707C>G (p.Gln1903Glu)
c.4750C>G (p.Gln1584Glu)
c.4741C>G (p.Gln1581Glu)
5g.37045466C>TCA359504084NIPBLc.6367C>T (p.Gln2123Ter)
c.1-19112C>T (n.1-19112C>T)
c.5623C>T (p.Gln1875Ter)
c.6169C>T (p.Gln2057Ter)
c.5986C>T (p.Gln1996Ter)
c.5707C>T (p.Gln1903Ter)
c.4750C>T (p.Gln1584Ter)
c.4741C>T (p.Gln1581Ter)
5g.37045467A>CCA359504085NIPBLc.6368A>C (p.Gln2123Pro)
c.1-19111A>C (n.1-19111A>C)
c.5624A>C (p.Gln1875Pro)
c.6170A>C (p.Gln2057Pro)
c.5987A>C (p.Gln1996Pro)
c.5708A>C (p.Gln1903Pro)
c.4751A>C (p.Gln1584Pro)
c.4742A>C (p.Gln1581Pro)
5g.37045467A>GCA359504086NIPBLc.6368A>G (p.Gln2123Arg)
c.1-19111A>G (n.1-19111A>G)
c.5624A>G (p.Gln1875Arg)
c.6170A>G (p.Gln2057Arg)
c.5987A>G (p.Gln1996Arg)
c.5708A>G (p.Gln1903Arg)
c.4751A>G (p.Gln1584Arg)
c.4742A>G (p.Gln1581Arg)
5g.37045467A>TCA359504088NIPBLc.6368A>T (p.Gln2123Leu)
c.1-19111A>T (n.1-19111A>T)
c.5624A>T (p.Gln1875Leu)
c.6170A>T (p.Gln2057Leu)
c.5987A>T (p.Gln1996Leu)
c.5708A>T (p.Gln1903Leu)
c.4751A>T (p.Gln1584Leu)
c.4742A>T (p.Gln1581Leu)
 gnomAD v4
5g.37045468A=CA1539618480NIPBLc.6369A= (p.Gln2123=)
c.1-19110A= (n.1-19110A=)
c.5625A= (p.Gln1875=)
c.6171A= (p.Gln2057=)
c.5988A= (p.Gln1996=)
c.5709A= (p.Gln1903=)
c.4752A= (p.Gln1584=)
c.4743A= (p.Gln1581=)
5g.37045468A>CCA359504093NIPBLc.6369A>C (p.Gln2123His)
c.1-19110A>C (n.1-19110A>C)
c.5625A>C (p.Gln1875His)
c.6171A>C (p.Gln2057His)
c.5988A>C (p.Gln1996His)
c.5709A>C (p.Gln1903His)
c.4752A>C (p.Gln1584His)
c.4743A>C (p.Gln1581His)
5g.37045468A>GCA3236995NIPBLc.6369A>G (p.Gln2123=)
c.1-19110A>G (n.1-19110A>G)
c.5625A>G (p.Gln1875=)
c.6171A>G (p.Gln2057=)
c.5988A>G (p.Gln1996=)
c.5709A>G (p.Gln1903=)
c.4752A>G (p.Gln1584=)
c.4743A>G (p.Gln1581=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.37045468A>TCA359504089NIPBLc.6369A>T (p.Gln2123His)
c.1-19110A>T (n.1-19110A>T)
c.5625A>T (p.Gln1875His)
c.6171A>T (p.Gln2057His)
c.5988A>T (p.Gln1996His)
c.5709A>T (p.Gln1903His)
c.4752A>T (p.Gln1584His)
c.4743A>T (p.Gln1581His)
 ClinVar dbSNP
5g.37045469C>ACA359504096NIPBLc.6370C>A (p.His2124Asn)
c.1-19109C>A (n.1-19109C>A)
c.5626C>A (p.His1876Asn)
c.6172C>A (p.His2058Asn)
c.5989C>A (p.His1997Asn)
c.5710C>A (p.His1904Asn)
c.4753C>A (p.His1585Asn)
c.4744C>A (p.His1582Asn)
5g.37045469C>GCA359504098NIPBLc.6370C>G (p.His2124Asp)
c.1-19109C>G (n.1-19109C>G)
c.5626C>G (p.His1876Asp)
c.6172C>G (p.His2058Asp)
c.5989C>G (p.His1997Asp)
c.5710C>G (p.His1904Asp)
c.4753C>G (p.His1585Asp)
c.4744C>G (p.His1582Asp)
5g.37045469C>TCA359504100NIPBLc.6370C>T (p.His2124Tyr)
c.1-19109C>T (n.1-19109C>T)
c.5626C>T (p.His1876Tyr)
c.6172C>T (p.His2058Tyr)
c.5989C>T (p.His1997Tyr)
c.5710C>T (p.His1904Tyr)
c.4753C>T (p.His1585Tyr)
c.4744C>T (p.His1582Tyr)
5g.37045470A>CCA359504104NIPBLc.6371A>C (p.His2124Pro)
c.1-19108A>C (n.1-19108A>C)
c.5627A>C (p.His1876Pro)
c.6173A>C (p.His2058Pro)
c.5990A>C (p.His1997Pro)
c.5711A>C (p.His1904Pro)
c.4754A>C (p.His1585Pro)
c.4745A>C (p.His1582Pro)
5g.37045470A>GCA359504106NIPBLc.6371A>G (p.His2124Arg)
c.1-19108A>G (n.1-19108A>G)
c.5627A>G (p.His1876Arg)
c.6173A>G (p.His2058Arg)
c.5990A>G (p.His1997Arg)
c.5711A>G (p.His1904Arg)
c.4754A>G (p.His1585Arg)
c.4745A>G (p.His1582Arg)
5g.37045470A>TCA359504109NIPBLc.6371A>T (p.His2124Leu)
c.1-19108A>T (n.1-19108A>T)
c.5627A>T (p.His1876Leu)
c.6173A>T (p.His2058Leu)
c.5990A>T (p.His1997Leu)
c.5711A>T (p.His1904Leu)
c.4754A>T (p.His1585Leu)
c.4745A>T (p.His1582Leu)
5g.37045471C>ACA359504116NIPBLc.6372C>A (p.His2124Gln)
c.1-19107C>A (n.1-19107C>A)
c.5628C>A (p.His1876Gln)
c.6174C>A (p.His2058Gln)
c.5991C>A (p.His1997Gln)
c.5712C>A (p.His1904Gln)
c.4755C>A (p.His1585Gln)
c.4746C>A (p.His1582Gln)
5g.37045471C>GCA359504132NIPBLc.6372C>G (p.His2124Gln)
c.1-19107C>G (n.1-19107C>G)
c.5628C>G (p.His1876Gln)
c.6174C>G (p.His2058Gln)
c.5991C>G (p.His1997Gln)
c.5712C>G (p.His1904Gln)
c.4755C>G (p.His1585Gln)
c.4746C>G (p.His1582Gln)
5g.37045471C>TCA443906678NIPBLc.6372C>T (p.His2124=)
c.1-19107C>T (n.1-19107C>T)
c.5628C>T (p.His1876=)
c.6174C>T (p.His2058=)
c.5991C>T (p.His1997=)
c.5712C>T (p.His1904=)
c.4755C>T (p.His1585=)
c.4746C>T (p.His1582=)
5g.37045472C>ACA359504135NIPBLc.6373C>A (p.Gln2125Lys)
c.1-19106C>A (n.1-19106C>A)
c.5629C>A (p.Gln1877Lys)
c.6175C>A (p.Gln2059Lys)
c.5992C>A (p.Gln1998Lys)
c.5713C>A (p.Gln1905Lys)
c.4756C>A (p.Gln1586Lys)
c.4747C>A (p.Gln1583Lys)
5g.37045472C>GCA359504139NIPBLc.6373C>G (p.Gln2125Glu)
c.1-19106C>G (n.1-19106C>G)
c.5629C>G (p.Gln1877Glu)
c.6175C>G (p.Gln2059Glu)
c.5992C>G (p.Gln1998Glu)
c.5713C>G (p.Gln1905Glu)
c.4756C>G (p.Gln1586Glu)
c.4747C>G (p.Gln1583Glu)
5g.37045472C>TCA359504141NIPBLc.6373C>T (p.Gln2125Ter)
c.1-19106C>T (n.1-19106C>T)
c.5629C>T (p.Gln1877Ter)
c.6175C>T (p.Gln2059Ter)
c.5992C>T (p.Gln1998Ter)
c.5713C>T (p.Gln1905Ter)
c.4756C>T (p.Gln1586Ter)
c.4747C>T (p.Gln1583Ter)
5g.37045473A>CCA359504150NIPBLc.6374A>C (p.Gln2125Pro)
c.1-19105A>C (n.1-19105A>C)
c.5630A>C (p.Gln1877Pro)
c.6176A>C (p.Gln2059Pro)
c.5993A>C (p.Gln1998Pro)
c.5714A>C (p.Gln1905Pro)
c.4757A>C (p.Gln1586Pro)
c.4748A>C (p.Gln1583Pro)
5g.37045473A>GCA359504146NIPBLc.6374A>G (p.Gln2125Arg)
c.1-19105A>G (n.1-19105A>G)
c.5630A>G (p.Gln1877Arg)
c.6176A>G (p.Gln2059Arg)
c.5993A>G (p.Gln1998Arg)
c.5714A>G (p.Gln1905Arg)
c.4757A>G (p.Gln1586Arg)
c.4748A>G (p.Gln1583Arg)
5g.37045473A>TCA359504145NIPBLc.6374A>T (p.Gln2125Leu)
c.1-19105A>T (n.1-19105A>T)
c.5630A>T (p.Gln1877Leu)
c.6176A>T (p.Gln2059Leu)
c.5993A>T (p.Gln1998Leu)
c.5714A>T (p.Gln1905Leu)
c.4757A>T (p.Gln1586Leu)
c.4748A>T (p.Gln1583Leu)
5g.37045474A>CCA359504156NIPBLc.6375A>C (p.Gln2125His)
c.1-19104A>C (n.1-19104A>C)
c.5631A>C (p.Gln1877His)
c.6177A>C (p.Gln2059His)
c.5994A>C (p.Gln1998His)
c.5715A>C (p.Gln1905His)
c.4758A>C (p.Gln1586His)
c.4749A>C (p.Gln1583His)
5g.37045474A>GCA443906692NIPBLc.6375A>G (p.Gln2125=)
c.1-19104A>G (n.1-19104A>G)
c.5631A>G (p.Gln1877=)
c.6177A>G (p.Gln2059=)
c.5994A>G (p.Gln1998=)
c.5715A>G (p.Gln1905=)
c.4758A>G (p.Gln1586=)
c.4749A>G (p.Gln1583=)
5g.37045474A>TCA359504157NIPBLc.6375A>T (p.Gln2125His)
c.1-19104A>T (n.1-19104A>T)
c.5631A>T (p.Gln1877His)
c.6177A>T (p.Gln2059His)
c.5994A>T (p.Gln1998His)
c.5715A>T (p.Gln1905His)
c.4758A>T (p.Gln1586His)
c.4749A>T (p.Gln1583His)
5g.37045475G>ACA359504158NIPBLc.6376G>A (p.Glu2126Lys)
c.1-19103G>A (n.1-19103G>A)
c.5632G>A (p.Glu1878Lys)
c.6178G>A (p.Glu2060Lys)
c.5995G>A (p.Glu1999Lys)
c.5716G>A (p.Glu1906Lys)
c.4759G>A (p.Glu1587Lys)
c.4750G>A (p.Glu1584Lys)
5g.37045475G>CCA359504159NIPBLc.6376G>C (p.Glu2126Gln)
c.1-19103G>C (n.1-19103G>C)
c.5632G>C (p.Glu1878Gln)
c.6178G>C (p.Glu2060Gln)
c.5995G>C (p.Glu1999Gln)
c.5716G>C (p.Glu1906Gln)
c.4759G>C (p.Glu1587Gln)
c.4750G>C (p.Glu1584Gln)
5g.37045475G>TCA359504161NIPBLc.6376G>T (p.Glu2126Ter)
c.1-19103G>T (n.1-19103G>T)
c.5632G>T (p.Glu1878Ter)
c.6178G>T (p.Glu2060Ter)
c.5995G>T (p.Glu1999Ter)
c.5716G>T (p.Glu1906Ter)
c.4759G>T (p.Glu1587Ter)
c.4750G>T (p.Glu1584Ter)
5g.37045476A>CCA359504164NIPBLc.6377A>C (p.Glu2126Ala)
c.1-19102A>C (n.1-19102A>C)
c.5633A>C (p.Glu1878Ala)
c.6179A>C (p.Glu2060Ala)
c.5996A>C (p.Glu1999Ala)
c.5717A>C (p.Glu1906Ala)
c.4760A>C (p.Glu1587Ala)
c.4751A>C (p.Glu1584Ala)
5g.37045476A>GCA359504167NIPBLc.6377A>G (p.Glu2126Gly)
c.1-19102A>G (n.1-19102A>G)
c.5633A>G (p.Glu1878Gly)
c.6179A>G (p.Glu2060Gly)
c.5996A>G (p.Glu1999Gly)
c.5717A>G (p.Glu1906Gly)
c.4760A>G (p.Glu1587Gly)
c.4751A>G (p.Glu1584Gly)
5g.37045476A>TCA359504169NIPBLc.6377A>T (p.Glu2126Val)
c.1-19102A>T (n.1-19102A>T)
c.5633A>T (p.Glu1878Val)
c.6179A>T (p.Glu2060Val)
c.5996A>T (p.Glu1999Val)
c.5717A>T (p.Glu1906Val)
c.4760A>T (p.Glu1587Val)
c.4751A>T (p.Glu1584Val)
5g.37045477G>ACA443906705NIPBLc.6378G>A (p.Glu2126=)
c.1-19101G>A (n.1-19101G>A)
c.5634G>A (p.Glu1878=)
c.6180G>A (p.Glu2060=)
c.5997G>A (p.Glu1999=)
c.5718G>A (p.Glu1906=)
c.4761G>A (p.Glu1587=)
c.4752G>A (p.Glu1584=)
 dbSNP gnomAD v4
5g.37045477G>CCA359504172NIPBLc.6378G>C (p.Glu2126Asp)
c.1-19101G>C (n.1-19101G>C)
c.5634G>C (p.Glu1878Asp)
c.6180G>C (p.Glu2060Asp)
c.5997G>C (p.Glu1999Asp)
c.5718G>C (p.Glu1906Asp)
c.4761G>C (p.Glu1587Asp)
c.4752G>C (p.Glu1584Asp)
5g.37045477G=CA1539618483NIPBLc.6378G= (p.Glu2126=)
c.1-19101G= (n.1-19101G=)
c.5634G= (p.Glu1878=)
c.6180G= (p.Glu2060=)
c.5997G= (p.Glu1999=)
c.5718G= (p.Glu1906=)
c.4761G= (p.Glu1587=)
c.4752G= (p.Glu1584=)
5g.37045477G>TCA359504175NIPBLc.6378G>T (p.Glu2126Asp)
c.1-19101G>T (n.1-19101G>T)
c.5634G>T (p.Glu1878Asp)
c.6180G>T (p.Glu2060Asp)
c.5997G>T (p.Glu1999Asp)
c.5718G>T (p.Glu1906Asp)
c.4761G>T (p.Glu1587Asp)
c.4752G>T (p.Glu1584Asp)
5g.37045478G>ACA359504177NIPBLc.6379G>A (p.Asp2127Asn)
c.1-19100G>A (n.1-19100G>A)
c.5635G>A (p.Asp1879Asn)
c.6181G>A (p.Asp2061Asn)
c.5998G>A (p.Asp2000Asn)
c.5719G>A (p.Asp1907Asn)
c.4762G>A (p.Asp1588Asn)
c.4753G>A (p.Asp1585Asn)
5g.37045478G>CCA359504180NIPBLc.6379G>C (p.Asp2127His)
c.1-19100G>C (n.1-19100G>C)
c.5635G>C (p.Asp1879His)
c.6181G>C (p.Asp2061His)
c.5998G>C (p.Asp2000His)
c.5719G>C (p.Asp1907His)
c.4762G>C (p.Asp1588His)
c.4753G>C (p.Asp1585His)
5g.37045478G>TCA359504182NIPBLc.6379G>T (p.Asp2127Tyr)
c.1-19100G>T (n.1-19100G>T)
c.5635G>T (p.Asp1879Tyr)
c.6181G>T (p.Asp2061Tyr)
c.5998G>T (p.Asp2000Tyr)
c.5719G>T (p.Asp1907Tyr)
c.4762G>T (p.Asp1588Tyr)
c.4753G>T (p.Asp1585Tyr)
5g.37045479A>CCA359504190NIPBLc.6380A>C (p.Asp2127Ala)
c.1-19099A>C (n.1-19099A>C)
c.5636A>C (p.Asp1879Ala)
c.6182A>C (p.Asp2061Ala)
c.5999A>C (p.Asp2000Ala)
c.5720A>C (p.Asp1907Ala)
c.4763A>C (p.Asp1588Ala)
c.4754A>C (p.Asp1585Ala)
5g.37045479A>GCA359504184NIPBLc.6380A>G (p.Asp2127Gly)
c.1-19099A>G (n.1-19099A>G)
c.5636A>G (p.Asp1879Gly)
c.6182A>G (p.Asp2061Gly)
c.5999A>G (p.Asp2000Gly)
c.5720A>G (p.Asp1907Gly)
c.4763A>G (p.Asp1588Gly)
c.4754A>G (p.Asp1585Gly)
5g.37045479A>TCA359504188NIPBLc.6380A>T (p.Asp2127Val)
c.1-19099A>T (n.1-19099A>T)
c.5636A>T (p.Asp1879Val)
c.6182A>T (p.Asp2061Val)
c.5999A>T (p.Asp2000Val)
c.5720A>T (p.Asp1907Val)
c.4763A>T (p.Asp1588Val)
c.4754A>T (p.Asp1585Val)
5g.37045480C>ACA359504193NIPBLc.6381C>A (p.Asp2127Glu)
c.1-19098C>A (n.1-19098C>A)
c.5637C>A (p.Asp1879Glu)
c.6183C>A (p.Asp2061Glu)
c.6000C>A (p.Asp2000Glu)
c.5721C>A (p.Asp1907Glu)
c.4764C>A (p.Asp1588Glu)
c.4755C>A (p.Asp1585Glu)
5g.37045480C>GCA359504197NIPBLc.6381C>G (p.Asp2127Glu)
c.1-19098C>G (n.1-19098C>G)
c.5637C>G (p.Asp1879Glu)
c.6183C>G (p.Asp2061Glu)
c.6000C>G (p.Asp2000Glu)
c.5721C>G (p.Asp1907Glu)
c.4764C>G (p.Asp1588Glu)
c.4755C>G (p.Asp1585Glu)
5g.37045480C>TCA443906721NIPBLc.6381C>T (p.Asp2127=)
c.1-19098C>T (n.1-19098C>T)
c.5637C>T (p.Asp1879=)
c.6183C>T (p.Asp2061=)
c.6000C>T (p.Asp2000=)
c.5721C>T (p.Asp1907=)
c.4764C>T (p.Asp1588=)
c.4755C>T (p.Asp1585=)
5g.37045481C>ACA359504200NIPBLc.6382C>A (p.Pro2128Thr)
c.1-19097C>A (n.1-19097C>A)
c.5638C>A (p.Pro1880Thr)
c.6184C>A (p.Pro2062Thr)
c.6001C>A (p.Pro2001Thr)
c.5722C>A (p.Pro1908Thr)
c.4765C>A (p.Pro1589Thr)
c.4756C>A (p.Pro1586Thr)
5g.37045481C>GCA359504202NIPBLc.6382C>G (p.Pro2128Ala)
c.1-19097C>G (n.1-19097C>G)
c.5638C>G (p.Pro1880Ala)
c.6184C>G (p.Pro2062Ala)
c.6001C>G (p.Pro2001Ala)
c.5722C>G (p.Pro1908Ala)
c.4765C>G (p.Pro1589Ala)
c.4756C>G (p.Pro1586Ala)
5g.37045481C>TCA359504203NIPBLc.6382C>T (p.Pro2128Ser)
c.1-19097C>T (n.1-19097C>T)
c.5638C>T (p.Pro1880Ser)
c.6184C>T (p.Pro2062Ser)
c.6001C>T (p.Pro2001Ser)
c.5722C>T (p.Pro1908Ser)
c.4765C>T (p.Pro1589Ser)
c.4756C>T (p.Pro1586Ser)
 gnomAD v4
5g.37045482C>ACA359504206NIPBLc.6383C>A (p.Pro2128Gln)
c.1-19096C>A (n.1-19096C>A)
c.5639C>A (p.Pro1880Gln)
c.6185C>A (p.Pro2062Gln)
c.6002C>A (p.Pro2001Gln)
c.5723C>A (p.Pro1908Gln)
c.4766C>A (p.Pro1589Gln)
c.4757C>A (p.Pro1586Gln)
5g.37045482C>GCA359504209NIPBLc.6383C>G (p.Pro2128Arg)
c.1-19096C>G (n.1-19096C>G)
c.5639C>G (p.Pro1880Arg)
c.6185C>G (p.Pro2062Arg)
c.6002C>G (p.Pro2001Arg)
c.5723C>G (p.Pro1908Arg)
c.4766C>G (p.Pro1589Arg)
c.4757C>G (p.Pro1586Arg)
 gnomAD v4
5g.37045482C>TCA359504219NIPBLc.6383C>T (p.Pro2128Leu)
c.1-19096C>T (n.1-19096C>T)
c.5639C>T (p.Pro1880Leu)
c.6185C>T (p.Pro2062Leu)
c.6002C>T (p.Pro2001Leu)
c.5723C>T (p.Pro1908Leu)
c.4766C>T (p.Pro1589Leu)
c.4757C>T (p.Pro1586Leu)
5g.37045483A=CA1539618486NIPBLc.6384A= (p.Pro2128=)
c.1-19095A= (n.1-19095A=)
c.5640A= (p.Pro1880=)
c.6186A= (p.Pro2062=)
c.6003A= (p.Pro2001=)
c.5724A= (p.Pro1908=)
c.4767A= (p.Pro1589=)
c.4758A= (p.Pro1586=)
5g.37045483A>CCA117046385NIPBLc.6384A>C (p.Pro2128=)
c.1-19095A>C (n.1-19095A>C)
c.5640A>C (p.Pro1880=)
c.6186A>C (p.Pro2062=)
c.6003A>C (p.Pro2001=)
c.5724A>C (p.Pro1908=)
c.4767A>C (p.Pro1589=)
c.4758A>C (p.Pro1586=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
5g.37045483A>GCA443906731NIPBLc.6384A>G (p.Pro2128=)
c.1-19095A>G (n.1-19095A>G)
c.5640A>G (p.Pro1880=)
c.6186A>G (p.Pro2062=)
c.6003A>G (p.Pro2001=)
c.5724A>G (p.Pro1908=)
c.4767A>G (p.Pro1589=)
c.4758A>G (p.Pro1586=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
5g.37045483A>TCA443906734NIPBLc.6384A>T (p.Pro2128=)
c.1-19095A>T (n.1-19095A>T)
c.5640A>T (p.Pro1880=)
c.6186A>T (p.Pro2062=)
c.6003A>T (p.Pro2001=)
c.5724A>T (p.Pro1908=)
c.4767A>T (p.Pro1589=)
c.4758A>T (p.Pro1586=)
5g.37045484A>CCA359504223NIPBLc.6385A>C (p.Asn2129His)
c.1-19094A>C (n.1-19094A>C)
c.5641A>C (p.Asn1881His)
c.6187A>C (p.Asn2063His)
c.6004A>C (p.Asn2002His)
c.5725A>C (p.Asn1909His)
c.4768A>C (p.Asn1590His)
c.4759A>C (p.Asn1587His)
5g.37045484A>GCA359504224NIPBLc.6385A>G (p.Asn2129Asp)
c.1-19094A>G (n.1-19094A>G)
c.5641A>G (p.Asn1881Asp)
c.6187A>G (p.Asn2063Asp)
c.6004A>G (p.Asn2002Asp)
c.5725A>G (p.Asn1909Asp)
c.4768A>G (p.Asn1590Asp)
c.4759A>G (p.Asn1587Asp)
5g.37045484A>TCA359504227NIPBLc.6385A>T (p.Asn2129Tyr)
c.1-19094A>T (n.1-19094A>T)
c.5641A>T (p.Asn1881Tyr)
c.6187A>T (p.Asn2063Tyr)
c.6004A>T (p.Asn2002Tyr)
c.5725A>T (p.Asn1909Tyr)
c.4768A>T (p.Asn1590Tyr)
c.4759A>T (p.Asn1587Tyr)
5g.37045485A=CA1539618489NIPBLc.6386A= (p.Asn2129=)
c.1-19093A= (n.1-19093A=)
c.5642A= (p.Asn1881=)
c.6188A= (p.Asn2063=)
c.6005A= (p.Asn2002=)
c.5726A= (p.Asn1909=)
c.4769A= (p.Asn1590=)
c.4760A= (p.Asn1587=)
5g.37045485A>CCA359504235NIPBLc.6386A>C (p.Asn2129Thr)
c.1-19093A>C (n.1-19093A>C)
c.5642A>C (p.Asn1881Thr)
c.6188A>C (p.Asn2063Thr)
c.6005A>C (p.Asn2002Thr)
c.5726A>C (p.Asn1909Thr)
c.4769A>C (p.Asn1590Thr)
c.4760A>C (p.Asn1587Thr)
5g.37045485A>GCA359504236NIPBLc.6386A>G (p.Asn2129Ser)
c.1-19093A>G (n.1-19093A>G)
c.5642A>G (p.Asn1881Ser)
c.6188A>G (p.Asn2063Ser)
c.6005A>G (p.Asn2002Ser)
c.5726A>G (p.Asn1909Ser)
c.4769A>G (p.Asn1590Ser)
c.4760A>G (p.Asn1587Ser)
 dbSNP COSMIC COSMIC
5g.37045485A>TCA359504232NIPBLc.6386A>T (p.Asn2129Ile)
c.1-19093A>T (n.1-19093A>T)
c.5642A>T (p.Asn1881Ile)
c.6188A>T (p.Asn2063Ile)
c.6005A>T (p.Asn2002Ile)
c.5726A>T (p.Asn1909Ile)
c.4769A>T (p.Asn1590Ile)
c.4760A>T (p.Asn1587Ile)
5g.37045486T>ACA359504238NIPBLc.6387T>A (p.Asn2129Lys)
c.1-19092T>A (n.1-19092T>A)
c.5643T>A (p.Asn1881Lys)
c.6189T>A (p.Asn2063Lys)
c.6006T>A (p.Asn2002Lys)
c.5727T>A (p.Asn1909Lys)
c.4770T>A (p.Asn1590Lys)
c.4761T>A (p.Asn1587Lys)
5g.37045486T>CCA443906748NIPBLc.6387T>C (p.Asn2129=)
c.1-19092T>C (n.1-19092T>C)
c.5643T>C (p.Asn1881=)
c.6189T>C (p.Asn2063=)
c.6006T>C (p.Asn2002=)
c.5727T>C (p.Asn1909=)
c.4770T>C (p.Asn1590=)
c.4761T>C (p.Asn1587=)
5g.37045486T>GCA359504240NIPBLc.6387T>G (p.Asn2129Lys)
c.1-19092T>G (n.1-19092T>G)
c.5643T>G (p.Asn1881Lys)
c.6189T>G (p.Asn2063Lys)
c.6006T>G (p.Asn2002Lys)
c.5727T>G (p.Asn1909Lys)
c.4770T>G (p.Asn1590Lys)
c.4761T>G (p.Asn1587Lys)
5g.37045487A>CCA359504243NIPBLc.6388A>C (p.Asn2130His)
c.1-19091A>C (n.1-19091A>C)
c.5644A>C (p.Asn1882His)
c.6190A>C (p.Asn2064His)
c.6007A>C (p.Asn2003His)
c.5728A>C (p.Asn1910His)
c.4771A>C (p.Asn1591His)
c.4762A>C (p.Asn1588His)
5g.37045487A>GCA359504246NIPBLc.6388A>G (p.Asn2130Asp)
c.1-19091A>G (n.1-19091A>G)
c.5644A>G (p.Asn1882Asp)
c.6190A>G (p.Asn2064Asp)
c.6007A>G (p.Asn2003Asp)
c.5728A>G (p.Asn1910Asp)
c.4771A>G (p.Asn1591Asp)
c.4762A>G (p.Asn1588Asp)
5g.37045487A>TCA359504249NIPBLc.6388A>T (p.Asn2130Tyr)
c.1-19091A>T (n.1-19091A>T)
c.5644A>T (p.Asn1882Tyr)
c.6190A>T (p.Asn2064Tyr)
c.6007A>T (p.Asn2003Tyr)
c.5728A>T (p.Asn1910Tyr)
c.4771A>T (p.Asn1591Tyr)
c.4762A>T (p.Asn1588Tyr)
5g.37045487_37045488insCACCCAACCA2765910819NIPBLc.6388_6389insCACCCAAC (p.Asn2130ThrfsTer8)
c.1-19091_1-19090insCACCCAAC (n.1-19091_1-19090insCACCCAAC)
c.5644_5645insCACCCAAC (p.Asn1882ThrfsTer8)
c.6190_6191insCACCCAAC (p.Asn2064ThrfsTer8)
c.6007_6008insCACCCAAC (p.Asn2003ThrfsTer8)
c.5728_5729insCACCCAAC (p.Asn1910ThrfsTer8)
c.4771_4772insCACCCAAC (p.Asn1591ThrfsTer8)
c.4762_4763insCACCCAAC (p.Asn1588ThrfsTer8)
5g.37045488A=CA1539618494NIPBLc.6389A= (p.Asn2130=)
c.1-19090A= (n.1-19090A=)
c.5645A= (p.Asn1882=)
c.6191A= (p.Asn2064=)
c.6008A= (p.Asn2003=)
c.5729A= (p.Asn1910=)
c.4772A= (p.Asn1591=)
c.4763A= (p.Asn1588=)
5g.37045488A>CCA359504257NIPBLc.6389A>C (p.Asn2130Thr)
c.1-19090A>C (n.1-19090A>C)
c.5645A>C (p.Asn1882Thr)
c.6191A>C (p.Asn2064Thr)
c.6008A>C (p.Asn2003Thr)
c.5729A>C (p.Asn1910Thr)
c.4772A>C (p.Asn1591Thr)
c.4763A>C (p.Asn1588Thr)
5g.37045488A>GCA3236996NIPBLc.6389A>G (p.Asn2130Ser)
c.1-19090A>G (n.1-19090A>G)
c.5645A>G (p.Asn1882Ser)
c.6191A>G (p.Asn2064Ser)
c.6008A>G (p.Asn2003Ser)
c.5729A>G (p.Asn1910Ser)
c.4772A>G (p.Asn1591Ser)
c.4763A>G (p.Asn1588Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.37045488A>TCA359504253NIPBLc.6389A>T (p.Asn2130Ile)
c.1-19090A>T (n.1-19090A>T)
c.5645A>T (p.Asn1882Ile)
c.6191A>T (p.Asn2064Ile)
c.6008A>T (p.Asn2003Ile)
c.5729A>T (p.Asn1910Ile)
c.4772A>T (p.Asn1591Ile)
c.4763A>T (p.Asn1588Ile)
5g.37045489C>ACA359504260NIPBLc.6390C>A (p.Asn2130Lys)
c.1-19089C>A (n.1-19089C>A)
c.5646C>A (p.Asn1882Lys)
c.6192C>A (p.Asn2064Lys)
c.6009C>A (p.Asn2003Lys)
c.5730C>A (p.Asn1910Lys)
c.4773C>A (p.Asn1591Lys)
c.4764C>A (p.Asn1588Lys)
5g.37045489C=CA1539618498NIPBLc.6390C= (p.Asn2130=)
c.1-19089C= (n.1-19089C=)
c.5646C= (p.Asn1882=)
c.6192C= (p.Asn2064=)
c.6009C= (p.Asn2003=)
c.5730C= (p.Asn1910=)
c.4773C= (p.Asn1591=)
c.4764C= (p.Asn1588=)
5g.37045489C>GCA359504262NIPBLc.6390C>G (p.Asn2130Lys)
c.1-19089C>G (n.1-19089C>G)
c.5646C>G (p.Asn1882Lys)
c.6192C>G (p.Asn2064Lys)
c.6009C>G (p.Asn2003Lys)
c.5730C>G (p.Asn1910Lys)
c.4773C>G (p.Asn1591Lys)
c.4764C>G (p.Asn1588Lys)
5g.37045489C>TCA3236997NIPBLc.6390C>T (p.Asn2130=)
c.1-19089C>T (n.1-19089C>T)
c.5646C>T (p.Asn1882=)
c.6192C>T (p.Asn2064=)
c.6009C>T (p.Asn2003=)
c.5730C>T (p.Asn1910=)
c.4773C>T (p.Asn1591=)
c.4764C>T (p.Asn1588=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.37045490A>CCA359504266NIPBLc.6391A>C (p.Thr2131Pro)
c.1-19088A>C (n.1-19088A>C)
c.5647A>C (p.Thr1883Pro)
c.6193A>C (p.Thr2065Pro)
c.6010A>C (p.Thr2004Pro)
c.5731A>C (p.Thr1911Pro)
c.4774A>C (p.Thr1592Pro)
c.4765A>C (p.Thr1589Pro)
 gnomAD v4
5g.37045490A>GCA359504270NIPBLc.6391A>G (p.Thr2131Ala)
c.1-19088A>G (n.1-19088A>G)
c.5647A>G (p.Thr1883Ala)
c.6193A>G (p.Thr2065Ala)
c.6010A>G (p.Thr2004Ala)
c.5731A>G (p.Thr1911Ala)
c.4774A>G (p.Thr1592Ala)
c.4765A>G (p.Thr1589Ala)
 gnomAD v4
5g.37045490A>TCA359504271NIPBLc.6391A>T (p.Thr2131Ser)
c.1-19088A>T (n.1-19088A>T)
c.5647A>T (p.Thr1883Ser)
c.6193A>T (p.Thr2065Ser)
c.6010A>T (p.Thr2004Ser)
c.5731A>T (p.Thr1911Ser)
c.4774A>T (p.Thr1592Ser)
c.4765A>T (p.Thr1589Ser)
5g.37045491C>ACA359504274NIPBLc.6392C>A (p.Thr2131Asn)
c.1-19087C>A (n.1-19087C>A)
c.5648C>A (p.Thr1883Asn)
c.6194C>A (p.Thr2065Asn)
c.6011C>A (p.Thr2004Asn)
c.5732C>A (p.Thr1911Asn)
c.4775C>A (p.Thr1592Asn)
c.4766C>A (p.Thr1589Asn)
5g.37045491C>GCA359504280NIPBLc.6392C>G (p.Thr2131Ser)
c.1-19087C>G (n.1-19087C>G)
c.5648C>G (p.Thr1883Ser)
c.6194C>G (p.Thr2065Ser)
c.6011C>G (p.Thr2004Ser)
c.5732C>G (p.Thr1911Ser)
c.4775C>G (p.Thr1592Ser)
c.4766C>G (p.Thr1589Ser)
5g.37045491C>TCA359504277NIPBLc.6392C>T (p.Thr2131Ile)
c.1-19087C>T (n.1-19087C>T)
c.5648C>T (p.Thr1883Ile)
c.6194C>T (p.Thr2065Ile)
c.6011C>T (p.Thr2004Ile)
c.5732C>T (p.Thr1911Ile)
c.4775C>T (p.Thr1592Ile)
c.4766C>T (p.Thr1589Ile)
5g.37045492T>ACA443906775NIPBLc.6393T>A (p.Thr2131=)
c.1-19086T>A (n.1-19086T>A)
c.5649T>A (p.Thr1883=)
c.6195T>A (p.Thr2065=)
c.6012T>A (p.Thr2004=)
c.5733T>A (p.Thr1911=)
c.4776T>A (p.Thr1592=)
c.4767T>A (p.Thr1589=)
5g.37045492T>CCA443906777NIPBLc.6393T>C (p.Thr2131=)
c.1-19086T>C (n.1-19086T>C)
c.5649T>C (p.Thr1883=)
c.6195T>C (p.Thr2065=)
c.6012T>C (p.Thr2004=)
c.5733T>C (p.Thr1911=)
c.4776T>C (p.Thr1592=)
c.4767T>C (p.Thr1589=)
5g.37045492T>GCA443906779NIPBLc.6393T>G (p.Thr2131=)
c.1-19086T>G (n.1-19086T>G)
c.5649T>G (p.Thr1883=)
c.6195T>G (p.Thr2065=)
c.6012T>G (p.Thr2004=)
c.5733T>G (p.Thr1911=)
c.4776T>G (p.Thr1592=)
c.4767T>G (p.Thr1589=)
5g.37045493T>ACA359504283NIPBLc.6394T>A (p.Ser2132Thr)
c.1-19085T>A (n.1-19085T>A)
c.5650T>A (p.Ser1884Thr)
c.6196T>A (p.Ser2066Thr)
c.6013T>A (p.Ser2005Thr)
c.5734T>A (p.Ser1912Thr)
c.4777T>A (p.Ser1593Thr)
c.4768T>A (p.Ser1590Thr)
5g.37045493T>CCA359504286NIPBLc.6394T>C (p.Ser2132Pro)
c.1-19085T>C (n.1-19085T>C)
c.5650T>C (p.Ser1884Pro)
c.6196T>C (p.Ser2066Pro)
c.6013T>C (p.Ser2005Pro)
c.5734T>C (p.Ser1912Pro)
c.4777T>C (p.Ser1593Pro)
c.4768T>C (p.Ser1590Pro)
5g.37045493T>GCA359504287NIPBLc.6394T>G (p.Ser2132Ala)
c.1-19085T>G (n.1-19085T>G)
c.5650T>G (p.Ser1884Ala)
c.6196T>G (p.Ser2066Ala)
c.6013T>G (p.Ser2005Ala)
c.5734T>G (p.Ser1912Ala)
c.4777T>G (p.Ser1593Ala)
c.4768T>G (p.Ser1590Ala)
5g.37045494C>ACA359504290NIPBLc.6395C>A (p.Ser2132Ter)
c.1-19084C>A (n.1-19084C>A)
c.5651C>A (p.Ser1884Ter)
c.6197C>A (p.Ser2066Ter)
c.6014C>A (p.Ser2005Ter)
c.5735C>A (p.Ser1912Ter)
c.4778C>A (p.Ser1593Ter)
c.4769C>A (p.Ser1590Ter)
5g.37045494C>GCA359504292NIPBLc.6395C>G (p.Ser2132Ter)
c.1-19084C>G (n.1-19084C>G)
c.5651C>G (p.Ser1884Ter)
c.6197C>G (p.Ser2066Ter)
c.6014C>G (p.Ser2005Ter)
c.5735C>G (p.Ser1912Ter)
c.4778C>G (p.Ser1593Ter)
c.4769C>G (p.Ser1590Ter)
5g.37045494C>TCA359504294NIPBLc.6395C>T (p.Ser2132Leu)
c.1-19084C>T (n.1-19084C>T)
c.5651C>T (p.Ser1884Leu)
c.6197C>T (p.Ser2066Leu)
c.6014C>T (p.Ser2005Leu)
c.5735C>T (p.Ser1912Leu)
c.4778C>T (p.Ser1593Leu)
c.4769C>T (p.Ser1590Leu)
5g.37045495A>CCA443906791NIPBLc.6396A>C (p.Ser2132=)
c.1-19083A>C (n.1-19083A>C)
c.5652A>C (p.Ser1884=)
c.6198A>C (p.Ser2066=)
c.6015A>C (p.Ser2005=)
c.5736A>C (p.Ser1912=)
c.4779A>C (p.Ser1593=)
c.4770A>C (p.Ser1590=)
 gnomAD v4
5g.37045495A>GCA443906793NIPBLc.6396A>G (p.Ser2132=)
c.1-19083A>G (n.1-19083A>G)
c.5652A>G (p.Ser1884=)
c.6198A>G (p.Ser2066=)
c.6015A>G (p.Ser2005=)
c.5736A>G (p.Ser1912=)
c.4779A>G (p.Ser1593=)
c.4770A>G (p.Ser1590=)
5g.37045495A>TCA443906795NIPBLc.6396A>T (p.Ser2132=)
c.1-19083A>T (n.1-19083A>T)
c.5652A>T (p.Ser1884=)
c.6198A>T (p.Ser2066=)
c.6015A>T (p.Ser2005=)
c.5736A>T (p.Ser1912=)
c.4779A>T (p.Ser1593=)
c.4770A>T (p.Ser1590=)
5g.37045496C>ACA359504298NIPBLc.6397C>A (p.Leu2133Ile)
c.1-19082C>A (n.1-19082C>A)
c.5653C>A (p.Leu1885Ile)
c.6199C>A (p.Leu2067Ile)
c.6016C>A (p.Leu2006Ile)
c.5737C>A (p.Leu1913Ile)
c.4780C>A (p.Leu1594Ile)
c.4771C>A (p.Leu1591Ile)
5g.37045496C>GCA359504307NIPBLc.6397C>G (p.Leu2133Val)
c.1-19082C>G (n.1-19082C>G)
c.5653C>G (p.Leu1885Val)
c.6199C>G (p.Leu2067Val)
c.6016C>G (p.Leu2006Val)
c.5737C>G (p.Leu1913Val)
c.4780C>G (p.Leu1594Val)
c.4771C>G (p.Leu1591Val)
5g.37045496C>TCA359504309NIPBLc.6397C>T (p.Leu2133Phe)
c.1-19082C>T (n.1-19082C>T)
c.5653C>T (p.Leu1885Phe)
c.6199C>T (p.Leu2067Phe)
c.6016C>T (p.Leu2006Phe)
c.5737C>T (p.Leu1913Phe)
c.4780C>T (p.Leu1594Phe)
c.4771C>T (p.Leu1591Phe)
5g.37045497T>ACA359504311NIPBLc.6398T>A (p.Leu2133His)
c.1-19081T>A (n.1-19081T>A)
c.5654T>A (p.Leu1885His)
c.6200T>A (p.Leu2067His)
c.6017T>A (p.Leu2006His)
c.5738T>A (p.Leu1913His)
c.4781T>A (p.Leu1594His)
c.4772T>A (p.Leu1591His)
5g.37045497T>CCA359504314NIPBLc.6398T>C (p.Leu2133Pro)
c.1-19081T>C (n.1-19081T>C)
c.5654T>C (p.Leu1885Pro)
c.6200T>C (p.Leu2067Pro)
c.6017T>C (p.Leu2006Pro)
c.5738T>C (p.Leu1913Pro)
c.4781T>C (p.Leu1594Pro)
c.4772T>C (p.Leu1591Pro)
5g.37045497T>GCA359504317NIPBLc.6398T>G (p.Leu2133Arg)
c.1-19081T>G (n.1-19081T>G)
c.5654T>G (p.Leu1885Arg)
c.6200T>G (p.Leu2067Arg)
c.6017T>G (p.Leu2006Arg)
c.5738T>G (p.Leu1913Arg)
c.4781T>G (p.Leu1594Arg)
c.4772T>G (p.Leu1591Arg)
5g.37045498T>ACA443906808NIPBLc.6399T>A (p.Leu2133=)
c.1-19080T>A (n.1-19080T>A)
c.5655T>A (p.Leu1885=)
c.6201T>A (p.Leu2067=)
c.6018T>A (p.Leu2006=)
c.5739T>A (p.Leu1913=)
c.4782T>A (p.Leu1594=)
c.4773T>A (p.Leu1591=)
5g.37045498T>CCA3236998NIPBLc.6399T>C (p.Leu2133=)
c.1-19080T>C (n.1-19080T>C)
c.5655T>C (p.Leu1885=)
c.6201T>C (p.Leu2067=)
c.6018T>C (p.Leu2006=)
c.5739T>C (p.Leu1913=)
c.4782T>C (p.Leu1594=)
c.4773T>C (p.Leu1591=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.37045498T>GCA443906812NIPBLc.6399T>G (p.Leu2133=)
c.1-19080T>G (n.1-19080T>G)
c.5655T>G (p.Leu1885=)
c.6201T>G (p.Leu2067=)
c.6018T>G (p.Leu2006=)
c.5739T>G (p.Leu1913=)
c.4782T>G (p.Leu1594=)
c.4773T>G (p.Leu1591=)
5g.37045498T=CA1539618503NIPBLc.6399T= (p.Leu2133=)
c.1-19080T= (n.1-19080T=)
c.5655T= (p.Leu1885=)
c.6201T= (p.Leu2067=)
c.6018T= (p.Leu2006=)
c.5739T= (p.Leu1913=)
c.4782T= (p.Leu1594=)
c.4773T= (p.Leu1591=)
5g.37045499C>ACA359504325NIPBLc.6400C>A (p.Leu2134Ile)
c.1-19079C>A (n.1-19079C>A)
c.5656C>A (p.Leu1886Ile)
c.6202C>A (p.Leu2068Ile)
c.6019C>A (p.Leu2007Ile)
c.5740C>A (p.Leu1914Ile)
c.4783C>A (p.Leu1595Ile)
c.4774C>A (p.Leu1592Ile)
5g.37045499C=CA1539618512NIPBLc.6400C= (p.Leu2134=)
c.1-19079C= (n.1-19079C=)
c.5656C= (p.Leu1886=)
c.6202C= (p.Leu2068=)
c.6019C= (p.Leu2007=)
c.5740C= (p.Leu1914=)
c.4783C= (p.Leu1595=)
c.4774C= (p.Leu1592=)
5g.37045499C>GCA359504323NIPBLc.6400C>G (p.Leu2134Val)
c.1-19079C>G (n.1-19079C>G)
c.5656C>G (p.Leu1886Val)
c.6202C>G (p.Leu2068Val)
c.6019C>G (p.Leu2007Val)
c.5740C>G (p.Leu1914Val)
c.4783C>G (p.Leu1595Val)
c.4774C>G (p.Leu1592Val)
 gnomAD v4
5g.37045499C>TCA172746NIPBLc.6400C>T (p.Leu2134=)
c.1-19079C>T (n.1-19079C>T)
c.5656C>T (p.Leu1886=)
c.6202C>T (p.Leu2068=)
c.6019C>T (p.Leu2007=)
c.5740C>T (p.Leu1914=)
c.4783C>T (p.Leu1595=)
c.4774C>T (p.Leu1592=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.37045500_37045503dupCA645372767NIPBLc.6401_6404dup (p.Pro2138GlnfsTer6)
c.1-19078_1-19075dup (n.1-19078_1-19075dup)
c.5657_5660dup (p.Pro1890GlnfsTer6)
c.6203_6206dup (p.Pro2072GlnfsTer6)
c.6020_6023dup (p.Pro2011GlnfsTer6)
c.5741_5744dup (p.Pro1918GlnfsTer6)
c.4784_4787dup (p.Pro1599GlnfsTer6)
c.4775_4778dup (p.Pro1596GlnfsTer6)
 ClinVar dbSNP
5g.37045500T>ACA359504329NIPBLc.6401T>A (p.Leu2134Gln)
c.1-19078T>A (n.1-19078T>A)
c.5657T>A (p.Leu1886Gln)
c.6203T>A (p.Leu2068Gln)
c.6020T>A (p.Leu2007Gln)
c.5741T>A (p.Leu1914Gln)
c.4784T>A (p.Leu1595Gln)
c.4775T>A (p.Leu1592Gln)
5g.37045500T>CCA359504337NIPBLc.6401T>C (p.Leu2134Pro)
c.1-19078T>C (n.1-19078T>C)
c.5657T>C (p.Leu1886Pro)
c.6203T>C (p.Leu2068Pro)
c.6020T>C (p.Leu2007Pro)
c.5741T>C (p.Leu1914Pro)
c.4784T>C (p.Leu1595Pro)
c.4775T>C (p.Leu1592Pro)
5g.37045500T>GCA359504332NIPBLc.6401T>G (p.Leu2134Arg)
c.1-19078T>G (n.1-19078T>G)
c.5657T>G (p.Leu1886Arg)
c.6203T>G (p.Leu2068Arg)
c.6020T>G (p.Leu2007Arg)
c.5741T>G (p.Leu1914Arg)
c.4784T>G (p.Leu1595Arg)
c.4775T>G (p.Leu1592Arg)
5g.37045501A=CA1539618520NIPBLc.6402A= (p.Leu2134=)
c.1-19077A= (n.1-19077A=)
c.5658A= (p.Leu1886=)
c.6204A= (p.Leu2068=)
c.6021A= (p.Leu2007=)
c.5742A= (p.Leu1914=)
c.4785A= (p.Leu1595=)
c.4776A= (p.Leu1592=)
5g.37045501A>CCA443906824NIPBLc.6402A>C (p.Leu2134=)
c.1-19077A>C (n.1-19077A>C)
c.5658A>C (p.Leu1886=)
c.6204A>C (p.Leu2068=)
c.6021A>C (p.Leu2007=)
c.5742A>C (p.Leu1914=)
c.4785A>C (p.Leu1595=)
c.4776A>C (p.Leu1592=)
5g.37045501A>GCA3236999NIPBLc.6402A>G (p.Leu2134=)
c.1-19077A>G (n.1-19077A>G)
c.5658A>G (p.Leu1886=)
c.6204A>G (p.Leu2068=)
c.6021A>G (p.Leu2007=)
c.5742A>G (p.Leu1914=)
c.4785A>G (p.Leu1595=)
c.4776A>G (p.Leu1592=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.37045501A>TCA443906827NIPBLc.6402A>T (p.Leu2134=)
c.1-19077A>T (n.1-19077A>T)
c.5658A>T (p.Leu1886=)
c.6204A>T (p.Leu2068=)
c.6021A>T (p.Leu2007=)
c.5742A>T (p.Leu1914=)
c.4785A>T (p.Leu1595=)
c.4776A>T (p.Leu1592=)
5g.37045508_37045511delCA2695204415NIPBLc.6409_6412del (p.Lys2137GlnfsTer?)
c.1-19070_1-19067del (n.1-19070_1-19067del)
c.5665_5668del (p.Lys1889GlnfsTer?)
c.6211_6214del (p.Lys2071GlnfsTer?)
c.6028_6031del (p.Lys2010GlnfsTer?)
c.5749_5752del (p.Lys1917GlnfsTer?)
c.4792_4795del (p.Lys1598GlnfsTer?)
c.4783_4786del (p.Lys1595GlnfsTer?)
5g.37045502A>CCA359504341NIPBLc.6403A>C (p.Thr2135Pro)
c.1-19076A>C (n.1-19076A>C)
c.5659A>C (p.Thr1887Pro)
c.6205A>C (p.Thr2069Pro)
c.6022A>C (p.Thr2008Pro)
c.5743A>C (p.Thr1915Pro)
c.4786A>C (p.Thr1596Pro)
c.4777A>C (p.Thr1593Pro)
5g.37045502A>GCA359504344NIPBLc.6403A>G (p.Thr2135Ala)
c.1-19076A>G (n.1-19076A>G)
c.5659A>G (p.Thr1887Ala)
c.6205A>G (p.Thr2069Ala)
c.6022A>G (p.Thr2008Ala)
c.5743A>G (p.Thr1915Ala)
c.4786A>G (p.Thr1596Ala)
c.4777A>G (p.Thr1593Ala)
 gnomAD v4
5g.37045502A>TCA359504346NIPBLc.6403A>T (p.Thr2135Ser)
c.1-19076A>T (n.1-19076A>T)
c.5659A>T (p.Thr1887Ser)
c.6205A>T (p.Thr2069Ser)
c.6022A>T (p.Thr2008Ser)
c.5743A>T (p.Thr1915Ser)
c.4786A>T (p.Thr1596Ser)
c.4777A>T (p.Thr1593Ser)
5g.37045503C>ACA359504348NIPBLc.6404C>A (p.Thr2135Lys)
c.1-19075C>A (n.1-19075C>A)
c.5660C>A (p.Thr1887Lys)
c.6206C>A (p.Thr2069Lys)
c.6023C>A (p.Thr2008Lys)
c.5744C>A (p.Thr1915Lys)
c.4787C>A (p.Thr1596Lys)
c.4778C>A (p.Thr1593Lys)
 dbSNP gnomAD v2 gnomAD v4
5g.37045503C=CA1539618525NIPBLc.6404C= (p.Thr2135=)
c.1-19075C= (n.1-19075C=)
c.5660C= (p.Thr1887=)
c.6206C= (p.Thr2069=)
c.6023C= (p.Thr2008=)
c.5744C= (p.Thr1915=)
c.4787C= (p.Thr1596=)
c.4778C= (p.Thr1593=)
5g.37045503C>GCA359504349NIPBLc.6404C>G (p.Thr2135Arg)
c.1-19075C>G (n.1-19075C>G)
c.5660C>G (p.Thr1887Arg)
c.6206C>G (p.Thr2069Arg)
c.6023C>G (p.Thr2008Arg)
c.5744C>G (p.Thr1915Arg)
c.4787C>G (p.Thr1596Arg)
c.4778C>G (p.Thr1593Arg)
 gnomAD v4
5g.37045503C>TCA359504352NIPBLc.6404C>T (p.Thr2135Ile)
c.1-19075C>T (n.1-19075C>T)
c.5660C>T (p.Thr1887Ile)
c.6206C>T (p.Thr2069Ile)
c.6023C>T (p.Thr2008Ile)
c.5744C>T (p.Thr1915Ile)
c.4787C>T (p.Thr1596Ile)
c.4778C>T (p.Thr1593Ile)
5g.37045504A>CCA443906840NIPBLc.6405A>C (p.Thr2135=)
c.1-19074A>C (n.1-19074A>C)
c.5661A>C (p.Thr1887=)
c.6207A>C (p.Thr2069=)
c.6024A>C (p.Thr2008=)
c.5745A>C (p.Thr1915=)
c.4788A>C (p.Thr1596=)
c.4779A>C (p.Thr1593=)
5g.37045504A>GCA443906842NIPBLc.6405A>G (p.Thr2135=)
c.1-19074A>G (n.1-19074A>G)
c.5661A>G (p.Thr1887=)
c.6207A>G (p.Thr2069=)
c.6024A>G (p.Thr2008=)
c.5745A>G (p.Thr1915=)
c.4788A>G (p.Thr1596=)
c.4779A>G (p.Thr1593=)
5g.37045504A>TCA443906838NIPBLc.6405A>T (p.Thr2135=)
c.1-19074A>T (n.1-19074A>T)
c.5661A>T (p.Thr1887=)
c.6207A>T (p.Thr2069=)
c.6024A>T (p.Thr2008=)
c.5745A>T (p.Thr1915=)
c.4788A>T (p.Thr1596=)
c.4779A>T (p.Thr1593=)
5g.37045506dupCA2695204416NIPBLc.6407dup (p.Asn2136LysfsTer7)
c.1-19072dup (n.1-19072dup)
c.5663dup (p.Asn1888LysfsTer7)
c.6209dup (p.Asn2070LysfsTer7)
c.6026dup (p.Asn2009LysfsTer7)
c.5747dup (p.Asn1916LysfsTer7)
c.4790dup (p.Asn1597LysfsTer7)
c.4781dup (p.Asn1594LysfsTer7)
5g.37045505A>CCA359504355NIPBLc.6406A>C (p.Asn2136His)
c.1-19073A>C (n.1-19073A>C)
c.5662A>C (p.Asn1888His)
c.6208A>C (p.Asn2070His)
c.6025A>C (p.Asn2009His)
c.5746A>C (p.Asn1916His)
c.4789A>C (p.Asn1597His)
c.4780A>C (p.Asn1594His)
5g.37045505A>GCA359504357NIPBLc.6406A>G (p.Asn2136Asp)
c.1-19073A>G (n.1-19073A>G)
c.5662A>G (p.Asn1888Asp)
c.6208A>G (p.Asn2070Asp)
c.6025A>G (p.Asn2009Asp)
c.5746A>G (p.Asn1916Asp)
c.4789A>G (p.Asn1597Asp)
c.4780A>G (p.Asn1594Asp)
5g.37045505A>TCA359504359NIPBLc.6406A>T (p.Asn2136Tyr)
c.1-19073A>T (n.1-19073A>T)
c.5662A>T (p.Asn1888Tyr)
c.6208A>T (p.Asn2070Tyr)
c.6025A>T (p.Asn2009Tyr)
c.5746A>T (p.Asn1916Tyr)
c.4789A>T (p.Asn1597Tyr)
c.4780A>T (p.Asn1594Tyr)
5g.37045506A>CCA359504367NIPBLc.6407A>C (p.Asn2136Thr)
c.1-19072A>C (n.1-19072A>C)
c.5663A>C (p.Asn1888Thr)
c.6209A>C (p.Asn2070Thr)
c.6026A>C (p.Asn2009Thr)
c.5747A>C (p.Asn1916Thr)
c.4790A>C (p.Asn1597Thr)
c.4781A>C (p.Asn1594Thr)
5g.37045506A>GCA359504362NIPBLc.6407A>G (p.Asn2136Ser)
c.1-19072A>G (n.1-19072A>G)
c.5663A>G (p.Asn1888Ser)
c.6209A>G (p.Asn2070Ser)
c.6026A>G (p.Asn2009Ser)
c.5747A>G (p.Asn1916Ser)
c.4790A>G (p.Asn1597Ser)
c.4781A>G (p.Asn1594Ser)
5g.37045506A>TCA359504365NIPBLc.6407A>T (p.Asn2136Ile)
c.1-19072A>T (n.1-19072A>T)
c.5663A>T (p.Asn1888Ile)
c.6209A>T (p.Asn2070Ile)
c.6026A>T (p.Asn2009Ile)
c.5747A>T (p.Asn1916Ile)
c.4790A>T (p.Asn1597Ile)
c.4781A>T (p.Asn1594Ile)
5g.37045507C>ACA359504369NIPBLc.6408C>A (p.Asn2136Lys)
c.1-19071C>A (n.1-19071C>A)
c.5664C>A (p.Asn1888Lys)
c.6210C>A (p.Asn2070Lys)
c.6027C>A (p.Asn2009Lys)
c.5748C>A (p.Asn1916Lys)
c.4791C>A (p.Asn1597Lys)
c.4782C>A (p.Asn1594Lys)
5g.37045507C>GCA359504373NIPBLc.6408C>G (p.Asn2136Lys)
c.1-19071C>G (n.1-19071C>G)
c.5664C>G (p.Asn1888Lys)
c.6210C>G (p.Asn2070Lys)
c.6027C>G (p.Asn2009Lys)
c.5748C>G (p.Asn1916Lys)
c.4791C>G (p.Asn1597Lys)
c.4782C>G (p.Asn1594Lys)
5g.37045507C>TCA443906853NIPBLc.6408C>T (p.Asn2136=)
c.1-19071C>T (n.1-19071C>T)
c.5664C>T (p.Asn1888=)
c.6210C>T (p.Asn2070=)
c.6027C>T (p.Asn2009=)
c.5748C>T (p.Asn1916=)
c.4791C>T (p.Asn1597=)
c.4782C>T (p.Asn1594=)
 gnomAD v4
5g.37045508A>CCA359504375NIPBLc.6409A>C (p.Lys2137Gln)
c.1-19070A>C (n.1-19070A>C)
c.5665A>C (p.Lys1889Gln)
c.6211A>C (p.Lys2071Gln)
c.6028A>C (p.Lys2010Gln)
c.5749A>C (p.Lys1917Gln)
c.4792A>C (p.Lys1598Gln)
c.4783A>C (p.Lys1595Gln)
5g.37045508A>GCA359504379NIPBLc.6409A>G (p.Lys2137Glu)
c.1-19070A>G (n.1-19070A>G)
c.5665A>G (p.Lys1889Glu)
c.6211A>G (p.Lys2071Glu)
c.6028A>G (p.Lys2010Glu)
c.5749A>G (p.Lys1917Glu)
c.4792A>G (p.Lys1598Glu)
c.4783A>G (p.Lys1595Glu)
5g.37045508A>TCA359504381NIPBLc.6409A>T (p.Lys2137Ter)
c.1-19070A>T (n.1-19070A>T)
c.5665A>T (p.Lys1889Ter)
c.6211A>T (p.Lys2071Ter)
c.6028A>T (p.Lys2010Ter)
c.5749A>T (p.Lys1917Ter)
c.4792A>T (p.Lys1598Ter)
c.4783A>T (p.Lys1595Ter)
5g.37045509A>CCA359504383NIPBLc.6410A>C (p.Lys2137Thr)
c.1-19069A>C (n.1-19069A>C)
c.5666A>C (p.Lys1889Thr)
c.6212A>C (p.Lys2071Thr)
c.6029A>C (p.Lys2010Thr)
c.5750A>C (p.Lys1917Thr)
c.4793A>C (p.Lys1598Thr)
c.4784A>C (p.Lys1595Thr)
5g.37045509A>GCA359504386NIPBLc.6410A>G (p.Lys2137Arg)
c.1-19069A>G (n.1-19069A>G)
c.5666A>G (p.Lys1889Arg)
c.6212A>G (p.Lys2071Arg)
c.6029A>G (p.Lys2010Arg)
c.5750A>G (p.Lys1917Arg)
c.4793A>G (p.Lys1598Arg)
c.4784A>G (p.Lys1595Arg)
5g.37045509A>TCA359504390NIPBLc.6410A>T (p.Lys2137Ile)
c.1-19069A>T (n.1-19069A>T)
c.5666A>T (p.Lys1889Ile)
c.6212A>T (p.Lys2071Ile)
c.6029A>T (p.Lys2010Ile)
c.5750A>T (p.Lys1917Ile)
c.4793A>T (p.Lys1598Ile)
c.4784A>T (p.Lys1595Ile)
5g.37045510A>CCA359504392NIPBLc.6411A>C (p.Lys2137Asn)
c.1-19068A>C (n.1-19068A>C)
c.5667A>C (p.Lys1889Asn)
c.6213A>C (p.Lys2071Asn)
c.6030A>C (p.Lys2010Asn)
c.5751A>C (p.Lys1917Asn)
c.4794A>C (p.Lys1598Asn)
c.4785A>C (p.Lys1595Asn)
5g.37045510A>GCA443906869NIPBLc.6411A>G (p.Lys2137=)
c.1-19068A>G (n.1-19068A>G)
c.5667A>G (p.Lys1889=)
c.6213A>G (p.Lys2071=)
c.6030A>G (p.Lys2010=)
c.5751A>G (p.Lys1917=)
c.4794A>G (p.Lys1598=)
c.4785A>G (p.Lys1595=)
5g.37045510A>TCA359504394NIPBLc.6411A>T (p.Lys2137Asn)
c.1-19068A>T (n.1-19068A>T)
c.5667A>T (p.Lys1889Asn)
c.6213A>T (p.Lys2071Asn)
c.6030A>T (p.Lys2010Asn)
c.5751A>T (p.Lys1917Asn)
c.4794A>T (p.Lys1598Asn)
c.4785A>T (p.Lys1595Asn)
5g.37045511C>ACA359504399NIPBLc.6412C>A (p.Pro2138Thr)
c.1-19067C>A (n.1-19067C>A)
c.5668C>A (p.Pro1890Thr)
c.6214C>A (p.Pro2072Thr)
c.6031C>A (p.Pro2011Thr)
c.5752C>A (p.Pro1918Thr)
c.4795C>A (p.Pro1599Thr)
c.4786C>A (p.Pro1596Thr)
5g.37045511C>GCA359504400NIPBLc.6412C>G (p.Pro2138Ala)
c.1-19067C>G (n.1-19067C>G)
c.5668C>G (p.Pro1890Ala)
c.6214C>G (p.Pro2072Ala)
c.6031C>G (p.Pro2011Ala)
c.5752C>G (p.Pro1918Ala)
c.4795C>G (p.Pro1599Ala)
c.4786C>G (p.Pro1596Ala)
5g.37045511C>TCA359504397NIPBLc.6412C>T (p.Pro2138Ser)
c.1-19067C>T (n.1-19067C>T)
c.5668C>T (p.Pro1890Ser)
c.6214C>T (p.Pro2072Ser)
c.6031C>T (p.Pro2011Ser)
c.5752C>T (p.Pro1918Ser)
c.4795C>T (p.Pro1599Ser)
c.4786C>T (p.Pro1596Ser)
5g.37045512C>ACA359504403NIPBLc.6413C>A (p.Pro2138Gln)
c.1-19066C>A (n.1-19066C>A)
c.5669C>A (p.Pro1890Gln)
c.6215C>A (p.Pro2072Gln)
c.6032C>A (p.Pro2011Gln)
c.5753C>A (p.Pro1918Gln)
c.4796C>A (p.Pro1599Gln)
c.4787C>A (p.Pro1596Gln)
5g.37045512C>GCA359504413NIPBLc.6413C>G (p.Pro2138Arg)
c.1-19066C>G (n.1-19066C>G)
c.5669C>G (p.Pro1890Arg)
c.6215C>G (p.Pro2072Arg)
c.6032C>G (p.Pro2011Arg)
c.5753C>G (p.Pro1918Arg)
c.4796C>G (p.Pro1599Arg)
c.4787C>G (p.Pro1596Arg)
5g.37045512C>TCA359504418NIPBLc.6413C>T (p.Pro2138Leu)
c.1-19066C>T (n.1-19066C>T)
c.5669C>T (p.Pro1890Leu)
c.6215C>T (p.Pro2072Leu)
c.6032C>T (p.Pro2011Leu)
c.5753C>T (p.Pro1918Leu)
c.4796C>T (p.Pro1599Leu)
c.4787C>T (p.Pro1596Leu)
5g.37045513A>CCA443906883NIPBLc.6414A>C (p.Pro2138=)
c.1-19065A>C (n.1-19065A>C)
c.5670A>C (p.Pro1890=)
c.6216A>C (p.Pro2072=)
c.6033A>C (p.Pro2011=)
c.5754A>C (p.Pro1918=)
c.4797A>C (p.Pro1599=)
c.4788A>C (p.Pro1596=)
5g.37045513A>GCA443906884NIPBLc.6414A>G (p.Pro2138=)
c.1-19065A>G (n.1-19065A>G)
c.5670A>G (p.Pro1890=)
c.6216A>G (p.Pro2072=)
c.6033A>G (p.Pro2011=)
c.5754A>G (p.Pro1918=)
c.4797A>G (p.Pro1599=)
c.4788A>G (p.Pro1596=)
5g.37045513A>TCA443906887NIPBLc.6414A>T (p.Pro2138=)
c.1-19065A>T (n.1-19065A>T)
c.5670A>T (p.Pro1890=)
c.6216A>T (p.Pro2072=)
c.6033A>T (p.Pro2011=)
c.5754A>T (p.Pro1918=)
c.4797A>T (p.Pro1599=)
c.4788A>T (p.Pro1596=)
5g.37045514G>ACA359504419NIPBLc.6415G>A (p.Ala2139Thr)
c.1-19064G>A (n.1-19064G>A)
c.5671G>A (p.Ala1891Thr)
c.6217G>A (p.Ala2073Thr)
c.6034G>A (p.Ala2012Thr)
c.5755G>A (p.Ala1919Thr)
c.4798G>A (p.Ala1600Thr)
c.4789G>A (p.Ala1597Thr)
5g.37045514G>CCA359504421NIPBLc.6415G>C (p.Ala2139Pro)
c.1-19064G>C (n.1-19064G>C)
c.5671G>C (p.Ala1891Pro)
c.6217G>C (p.Ala2073Pro)
c.6034G>C (p.Ala2012Pro)
c.5755G>C (p.Ala1919Pro)
c.4798G>C (p.Ala1600Pro)
c.4789G>C (p.Ala1597Pro)
5g.37045514G>TCA359504424NIPBLc.6415G>T (p.Ala2139Ser)
c.1-19064G>T (n.1-19064G>T)
c.5671G>T (p.Ala1891Ser)
c.6217G>T (p.Ala2073Ser)
c.6034G>T (p.Ala2012Ser)
c.5755G>T (p.Ala1919Ser)
c.4798G>T (p.Ala1600Ser)
c.4789G>T (p.Ala1597Ser)
5g.37045515C>ACA359504427NIPBLc.6416C>A (p.Ala2139Glu)
c.1-19063C>A (n.1-19063C>A)
c.5672C>A (p.Ala1891Glu)
c.6218C>A (p.Ala2073Glu)
c.6035C>A (p.Ala2012Glu)
c.5756C>A (p.Ala1919Glu)
c.4799C>A (p.Ala1600Glu)
c.4790C>A (p.Ala1597Glu)
5g.37045515C>GCA359504430NIPBLc.6416C>G (p.Ala2139Gly)
c.1-19063C>G (n.1-19063C>G)
c.5672C>G (p.Ala1891Gly)
c.6218C>G (p.Ala2073Gly)
c.6035C>G (p.Ala2012Gly)
c.5756C>G (p.Ala1919Gly)
c.4799C>G (p.Ala1600Gly)
c.4790C>G (p.Ala1597Gly)
5g.37045515C>TCA359504443NIPBLc.6416C>T (p.Ala2139Val)
c.1-19063C>T (n.1-19063C>T)
c.5672C>T (p.Ala1891Val)
c.6218C>T (p.Ala2073Val)
c.6035C>T (p.Ala2012Val)
c.5756C>T (p.Ala1919Val)
c.4799C>T (p.Ala1600Val)
c.4790C>T (p.Ala1597Val)
5g.37045516A=CA1539618528NIPBLc.6417A= (p.Ala2139=)
c.1-19062A= (n.1-19062A=)
c.5673A= (p.Ala1891=)
c.6219A= (p.Ala2073=)
c.6036A= (p.Ala2012=)
c.5757A= (p.Ala1919=)
c.4800A= (p.Ala1600=)
c.4791A= (p.Ala1597=)
5g.37045516A>CCA443906900NIPBLc.6417A>C (p.Ala2139=)
c.1-19062A>C (n.1-19062A>C)
c.5673A>C (p.Ala1891=)
c.6219A>C (p.Ala2073=)
c.6036A>C (p.Ala2012=)
c.5757A>C (p.Ala1919=)
c.4800A>C (p.Ala1600=)
c.4791A>C (p.Ala1597=)
5g.37045516A>GCA443906902NIPBLc.6417A>G (p.Ala2139=)
c.1-19062A>G (n.1-19062A>G)
c.5673A>G (p.Ala1891=)
c.6219A>G (p.Ala2073=)
c.6036A>G (p.Ala2012=)
c.5757A>G (p.Ala1919=)
c.4800A>G (p.Ala1600=)
c.4791A>G (p.Ala1597=)
 dbSNP gnomAD v3 gnomAD v4
5g.37045516A>TCA443906904NIPBLc.6417A>T (p.Ala2139=)
c.1-19062A>T (n.1-19062A>T)
c.5673A>T (p.Ala1891=)
c.6219A>T (p.Ala2073=)
c.6036A>T (p.Ala2012=)
c.5757A>T (p.Ala1919=)
c.4800A>T (p.Ala1600=)
c.4791A>T (p.Ala1597=)
5g.37045517C>ACA359504448NIPBLc.6418C>A (p.Leu2140Ile)
c.1-19061C>A (n.1-19061C>A)
c.5674C>A (p.Leu1892Ile)
c.6220C>A (p.Leu2074Ile)
c.6037C>A (p.Leu2013Ile)
c.5758C>A (p.Leu1920Ile)
c.4801C>A (p.Leu1601Ile)
c.4792C>A (p.Leu1598Ile)
5g.37045517C>GCA359504449NIPBLc.6418C>G (p.Leu2140Val)
c.1-19061C>G (n.1-19061C>G)
c.5674C>G (p.Leu1892Val)
c.6220C>G (p.Leu2074Val)
c.6037C>G (p.Leu2013Val)
c.5758C>G (p.Leu1920Val)
c.4801C>G (p.Leu1601Val)
c.4792C>G (p.Leu1598Val)
5g.37045517C>TCA359504452NIPBLc.6418C>T (p.Leu2140Phe)
c.1-19061C>T (n.1-19061C>T)
c.5674C>T (p.Leu1892Phe)
c.6220C>T (p.Leu2074Phe)
c.6037C>T (p.Leu2013Phe)
c.5758C>T (p.Leu1920Phe)
c.4801C>T (p.Leu1601Phe)
c.4792C>T (p.Leu1598Phe)
5g.37045518T>ACA359504461NIPBLc.6419T>A (p.Leu2140His)
c.1-19060T>A (n.1-19060T>A)
c.5675T>A (p.Leu1892His)
c.6221T>A (p.Leu2074His)
c.6038T>A (p.Leu2013His)
c.5759T>A (p.Leu1920His)
c.4802T>A (p.Leu1601His)
c.4793T>A (p.Leu1598His)
5g.37045518T>CCA359504456NIPBLc.6419T>C (p.Leu2140Pro)
c.1-19060T>C (n.1-19060T>C)
c.5675T>C (p.Leu1892Pro)
c.6221T>C (p.Leu2074Pro)
c.6038T>C (p.Leu2013Pro)
c.5759T>C (p.Leu1920Pro)
c.4802T>C (p.Leu1601Pro)
c.4793T>C (p.Leu1598Pro)
5g.37045518T>GCA359504460NIPBLc.6419T>G (p.Leu2140Arg)
c.1-19060T>G (n.1-19060T>G)
c.5675T>G (p.Leu1892Arg)
c.6221T>G (p.Leu2074Arg)
c.6038T>G (p.Leu2013Arg)
c.5759T>G (p.Leu1920Arg)
c.4802T>G (p.Leu1601Arg)
c.4793T>G (p.Leu1598Arg)
5g.37045519T>ACA443906916NIPBLc.6420T>A (p.Leu2140=)
c.1-19059T>A (n.1-19059T>A)
c.5676T>A (p.Leu1892=)
c.6222T>A (p.Leu2074=)
c.6039T>A (p.Leu2013=)
c.5760T>A (p.Leu1920=)
c.4803T>A (p.Leu1601=)
c.4794T>A (p.Leu1598=)
5g.37045519T>CCA443906918NIPBLc.6420T>C (p.Leu2140=)
c.1-19059T>C (n.1-19059T>C)
c.5676T>C (p.Leu1892=)
c.6222T>C (p.Leu2074=)
c.6039T>C (p.Leu2013=)
c.5760T>C (p.Leu1920=)
c.4803T>C (p.Leu1601=)
c.4794T>C (p.Leu1598=)
5g.37045519T>GCA443906920NIPBLc.6420T>G (p.Leu2140=)
c.1-19059T>G (n.1-19059T>G)
c.5676T>G (p.Leu1892=)
c.6222T>G (p.Leu2074=)
c.6039T>G (p.Leu2013=)
c.5760T>G (p.Leu1920=)
c.4803T>G (p.Leu1601=)
c.4794T>G (p.Leu1598=)

Number of alleles fetched