Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.37010108T>ACA359527660NIPBLc.4443T>A (p.Asp1481Glu)
c.1-54470T>A (n.1-54470T>A)
c.3699T>A (p.Asp1233Glu)
c.4245T>A (p.Asp1415Glu)
c.4062T>A (p.Asp1354Glu)
c.3783T>A (p.Asp1261Glu)
c.2826T>A (p.Asp942Glu)
c.2817T>A (p.Asp939Glu)
5g.37010108T>CCA443905282NIPBLc.4443T>C (p.Asp1481=)
c.1-54470T>C (n.1-54470T>C)
c.3699T>C (p.Asp1233=)
c.4245T>C (p.Asp1415=)
c.4062T>C (p.Asp1354=)
c.3783T>C (p.Asp1261=)
c.2826T>C (p.Asp942=)
c.2817T>C (p.Asp939=)
5g.37010108T>GCA359527661NIPBLc.4443T>G (p.Asp1481Glu)
c.1-54470T>G (n.1-54470T>G)
c.3699T>G (p.Asp1233Glu)
c.4245T>G (p.Asp1415Glu)
c.4062T>G (p.Asp1354Glu)
c.3783T>G (p.Asp1261Glu)
c.2826T>G (p.Asp942Glu)
c.2817T>G (p.Asp939Glu)
5g.37010109G>ACA359527662NIPBLc.4444G>A (p.Gly1482Arg)
c.1-54469G>A (n.1-54469G>A)
c.3700G>A (p.Gly1234Arg)
c.4246G>A (p.Gly1416Arg)
c.4063G>A (p.Gly1355Arg)
c.3784G>A (p.Gly1262Arg)
c.2827G>A (p.Gly943Arg)
c.2818G>A (p.Gly940Arg)
5g.37010109G>CCA359527663NIPBLc.4444G>C (p.Gly1482Arg)
c.1-54469G>C (n.1-54469G>C)
c.3700G>C (p.Gly1234Arg)
c.4246G>C (p.Gly1416Arg)
c.4063G>C (p.Gly1355Arg)
c.3784G>C (p.Gly1262Arg)
c.2827G>C (p.Gly943Arg)
c.2818G>C (p.Gly940Arg)
5g.37010109G>TCA359527664NIPBLc.4444G>T (p.Gly1482Ter)
c.1-54469G>T (n.1-54469G>T)
c.3700G>T (p.Gly1234Ter)
c.4246G>T (p.Gly1416Ter)
c.4063G>T (p.Gly1355Ter)
c.3784G>T (p.Gly1262Ter)
c.2827G>T (p.Gly943Ter)
c.2818G>T (p.Gly940Ter)
5g.37010110G>ACA359527665NIPBLc.4445G>A (p.Gly1482Glu)
c.1-54468G>A (n.1-54468G>A)
c.3701G>A (p.Gly1234Glu)
c.4247G>A (p.Gly1416Glu)
c.4064G>A (p.Gly1355Glu)
c.3785G>A (p.Gly1262Glu)
c.2828G>A (p.Gly943Glu)
c.2819G>A (p.Gly940Glu)
5g.37010110G>CCA359527667NIPBLc.4445G>C (p.Gly1482Ala)
c.1-54468G>C (n.1-54468G>C)
c.3701G>C (p.Gly1234Ala)
c.4247G>C (p.Gly1416Ala)
c.4064G>C (p.Gly1355Ala)
c.3785G>C (p.Gly1262Ala)
c.2828G>C (p.Gly943Ala)
c.2819G>C (p.Gly940Ala)
5g.37010110G>TCA359527666NIPBLc.4445G>T (p.Gly1482Val)
c.1-54468G>T (n.1-54468G>T)
c.3701G>T (p.Gly1234Val)
c.4247G>T (p.Gly1416Val)
c.4064G>T (p.Gly1355Val)
c.3785G>T (p.Gly1262Val)
c.2828G>T (p.Gly943Val)
c.2819G>T (p.Gly940Val)
5g.37010111A>CCA443905285NIPBLc.4446A>C (p.Gly1482=)
c.1-54467A>C (n.1-54467A>C)
c.3702A>C (p.Gly1234=)
c.4248A>C (p.Gly1416=)
c.4065A>C (p.Gly1355=)
c.3786A>C (p.Gly1262=)
c.2829A>C (p.Gly943=)
c.2820A>C (p.Gly940=)
5g.37010111A>GCA443905287NIPBLc.4446A>G (p.Gly1482=)
c.1-54467A>G (n.1-54467A>G)
c.3702A>G (p.Gly1234=)
c.4248A>G (p.Gly1416=)
c.4065A>G (p.Gly1355=)
c.3786A>G (p.Gly1262=)
c.2829A>G (p.Gly943=)
c.2820A>G (p.Gly940=)
5g.37010111A>TCA443905286NIPBLc.4446A>T (p.Gly1482=)
c.1-54467A>T (n.1-54467A>T)
c.3702A>T (p.Gly1234=)
c.4248A>T (p.Gly1416=)
c.4065A>T (p.Gly1355=)
c.3786A>T (p.Gly1262=)
c.2829A>T (p.Gly943=)
c.2820A>T (p.Gly940=)
5g.37010112G>ACA359527668NIPBLc.4447G>A (p.Glu1483Lys)
c.1-54466G>A (n.1-54466G>A)
c.3703G>A (p.Glu1235Lys)
c.4249G>A (p.Glu1417Lys)
c.4066G>A (p.Glu1356Lys)
c.3787G>A (p.Glu1263Lys)
c.2830G>A (p.Glu944Lys)
c.2821G>A (p.Glu941Lys)
5g.37010112G>CCA359527670NIPBLc.4447G>C (p.Glu1483Gln)
c.1-54466G>C (n.1-54466G>C)
c.3703G>C (p.Glu1235Gln)
c.4249G>C (p.Glu1417Gln)
c.4066G>C (p.Glu1356Gln)
c.3787G>C (p.Glu1263Gln)
c.2830G>C (p.Glu944Gln)
c.2821G>C (p.Glu941Gln)
5g.37010112G>TCA359527669NIPBLc.4447G>T (p.Glu1483Ter)
c.1-54466G>T (n.1-54466G>T)
c.3703G>T (p.Glu1235Ter)
c.4249G>T (p.Glu1417Ter)
c.4066G>T (p.Glu1356Ter)
c.3787G>T (p.Glu1263Ter)
c.2830G>T (p.Glu944Ter)
c.2821G>T (p.Glu941Ter)
5g.37010113A>CCA359527671NIPBLc.4448A>C (p.Glu1483Ala)
c.1-54465A>C (n.1-54465A>C)
c.3704A>C (p.Glu1235Ala)
c.4250A>C (p.Glu1417Ala)
c.4067A>C (p.Glu1356Ala)
c.3788A>C (p.Glu1263Ala)
c.2831A>C (p.Glu944Ala)
c.2822A>C (p.Glu941Ala)
5g.37010113A>GCA359527672NIPBLc.4448A>G (p.Glu1483Gly)
c.1-54465A>G (n.1-54465A>G)
c.3704A>G (p.Glu1235Gly)
c.4250A>G (p.Glu1417Gly)
c.4067A>G (p.Glu1356Gly)
c.3788A>G (p.Glu1263Gly)
c.2831A>G (p.Glu944Gly)
c.2822A>G (p.Glu941Gly)
5g.37010113A>TCA359527673NIPBLc.4448A>T (p.Glu1483Val)
c.1-54465A>T (n.1-54465A>T)
c.3704A>T (p.Glu1235Val)
c.4250A>T (p.Glu1417Val)
c.4067A>T (p.Glu1356Val)
c.3788A>T (p.Glu1263Val)
c.2831A>T (p.Glu944Val)
c.2822A>T (p.Glu941Val)
5g.37010114A=CA1539609279NIPBLc.4449A= (p.Glu1483=)
c.1-54464A= (n.1-54464A=)
c.3705A= (p.Glu1235=)
c.4251A= (p.Glu1417=)
c.4068A= (p.Glu1356=)
c.3789A= (p.Glu1263=)
c.2832A= (p.Glu944=)
c.2823A= (p.Glu941=)
5g.37010114A>CCA359527674NIPBLc.4449A>C (p.Glu1483Asp)
c.1-54464A>C (n.1-54464A>C)
c.3705A>C (p.Glu1235Asp)
c.4251A>C (p.Glu1417Asp)
c.4068A>C (p.Glu1356Asp)
c.3789A>C (p.Glu1263Asp)
c.2832A>C (p.Glu944Asp)
c.2823A>C (p.Glu941Asp)
5g.37010114A>GCA3236563NIPBLc.4449A>G (p.Glu1483=)
c.1-54464A>G (n.1-54464A>G)
c.3705A>G (p.Glu1235=)
c.4251A>G (p.Glu1417=)
c.4068A>G (p.Glu1356=)
c.3789A>G (p.Glu1263=)
c.2832A>G (p.Glu944=)
c.2823A>G (p.Glu941=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.37010114A>TCA359527675NIPBLc.4449A>T (p.Glu1483Asp)
c.1-54464A>T (n.1-54464A>T)
c.3705A>T (p.Glu1235Asp)
c.4251A>T (p.Glu1417Asp)
c.4068A>T (p.Glu1356Asp)
c.3789A>T (p.Glu1263Asp)
c.2832A>T (p.Glu944Asp)
c.2823A>T (p.Glu941Asp)
5g.37010115C>ACA359527676NIPBLc.4450C>A (p.Pro1484Thr)
c.1-54463C>A (n.1-54463C>A)
c.3706C>A (p.Pro1236Thr)
c.4252C>A (p.Pro1418Thr)
c.4069C>A (p.Pro1357Thr)
c.3790C>A (p.Pro1264Thr)
c.2833C>A (p.Pro945Thr)
c.2824C>A (p.Pro942Thr)
5g.37010115C=CA1539609280NIPBLc.4450C= (p.Pro1484=)
c.1-54463C= (n.1-54463C=)
c.3706C= (p.Pro1236=)
c.4252C= (p.Pro1418=)
c.4069C= (p.Pro1357=)
c.3790C= (p.Pro1264=)
c.2833C= (p.Pro945=)
c.2824C= (p.Pro942=)
5g.37010115C>GCA359527677NIPBLc.4450C>G (p.Pro1484Ala)
c.1-54463C>G (n.1-54463C>G)
c.3706C>G (p.Pro1236Ala)
c.4252C>G (p.Pro1418Ala)
c.4069C>G (p.Pro1357Ala)
c.3790C>G (p.Pro1264Ala)
c.2833C>G (p.Pro945Ala)
c.2824C>G (p.Pro942Ala)
5g.37010115C>TCA3236564NIPBLc.4450C>T (p.Pro1484Ser)
c.1-54463C>T (n.1-54463C>T)
c.3706C>T (p.Pro1236Ser)
c.4252C>T (p.Pro1418Ser)
c.4069C>T (p.Pro1357Ser)
c.3790C>T (p.Pro1264Ser)
c.2833C>T (p.Pro945Ser)
c.2824C>T (p.Pro942Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.37010116delCA2695204331NIPBLc.4451del (p.Pro1484LeufsTer?)
c.1-54462del (n.1-54462del)
c.3707del (p.Pro1236LeufsTer?)
c.4253del (p.Pro1418LeufsTer?)
c.4070del (p.Pro1357LeufsTer?)
c.3791del (p.Pro1264LeufsTer?)
c.2834del (p.Pro945LeufsTer?)
c.2825del (p.Pro942LeufsTer?)
5g.37010116C>ACA359527678NIPBLc.4451C>A (p.Pro1484His)
c.1-54462C>A (n.1-54462C>A)
c.3707C>A (p.Pro1236His)
c.4253C>A (p.Pro1418His)
c.4070C>A (p.Pro1357His)
c.3791C>A (p.Pro1264His)
c.2834C>A (p.Pro945His)
c.2825C>A (p.Pro942His)
5g.37010116C=CA1539609282NIPBLc.4451C= (p.Pro1484=)
c.1-54462C= (n.1-54462C=)
c.3707C= (p.Pro1236=)
c.4253C= (p.Pro1418=)
c.4070C= (p.Pro1357=)
c.3791C= (p.Pro1264=)
c.2834C= (p.Pro945=)
c.2825C= (p.Pro942=)
5g.37010116C>GCA359527679NIPBLc.4451C>G (p.Pro1484Arg)
c.1-54462C>G (n.1-54462C>G)
c.3707C>G (p.Pro1236Arg)
c.4253C>G (p.Pro1418Arg)
c.4070C>G (p.Pro1357Arg)
c.3791C>G (p.Pro1264Arg)
c.2834C>G (p.Pro945Arg)
c.2825C>G (p.Pro942Arg)
 dbSNP gnomAD v2 gnomAD v4
5g.37010116C>TCA359527680NIPBLc.4451C>T (p.Pro1484Leu)
c.1-54462C>T (n.1-54462C>T)
c.3707C>T (p.Pro1236Leu)
c.4253C>T (p.Pro1418Leu)
c.4070C>T (p.Pro1357Leu)
c.3791C>T (p.Pro1264Leu)
c.2834C>T (p.Pro945Leu)
c.2825C>T (p.Pro942Leu)
 COSMIC COSMIC
5g.37010117T>ACA443905291NIPBLc.4452T>A (p.Pro1484=)
c.1-54461T>A (n.1-54461T>A)
c.3708T>A (p.Pro1236=)
c.4254T>A (p.Pro1418=)
c.4071T>A (p.Pro1357=)
c.3792T>A (p.Pro1264=)
c.2835T>A (p.Pro945=)
c.2826T>A (p.Pro942=)
5g.37010117T>CCA443905292NIPBLc.4452T>C (p.Pro1484=)
c.1-54461T>C (n.1-54461T>C)
c.3708T>C (p.Pro1236=)
c.4254T>C (p.Pro1418=)
c.4071T>C (p.Pro1357=)
c.3792T>C (p.Pro1264=)
c.2835T>C (p.Pro945=)
c.2826T>C (p.Pro942=)
 gnomAD v4
5g.37010117T>GCA443905294NIPBLc.4452T>G (p.Pro1484=)
c.1-54461T>G (n.1-54461T>G)
c.3708T>G (p.Pro1236=)
c.4254T>G (p.Pro1418=)
c.4071T>G (p.Pro1357=)
c.3792T>G (p.Pro1264=)
c.2835T>G (p.Pro945=)
c.2826T>G (p.Pro942=)
 dbSNP
5g.37010117T=CA1539609285NIPBLc.4452T= (p.Pro1484=)
c.1-54461T= (n.1-54461T=)
c.3708T= (p.Pro1236=)
c.4254T= (p.Pro1418=)
c.4071T= (p.Pro1357=)
c.3792T= (p.Pro1264=)
c.2835T= (p.Pro945=)
c.2826T= (p.Pro942=)
5g.37010118A=CA1539609287NIPBLc.4453A= (p.Met1485=)
c.1-54460A= (n.1-54460A=)
c.3709A= (p.Met1237=)
c.4255A= (p.Met1419=)
c.4072A= (p.Met1358=)
c.3793A= (p.Met1265=)
c.2836A= (p.Met946=)
c.2827A= (p.Met943=)
5g.37010118A>CCA359527681NIPBLc.4453A>C (p.Met1485Leu)
c.1-54460A>C (n.1-54460A>C)
c.3709A>C (p.Met1237Leu)
c.4255A>C (p.Met1419Leu)
c.4072A>C (p.Met1358Leu)
c.3793A>C (p.Met1265Leu)
c.2836A>C (p.Met946Leu)
c.2827A>C (p.Met943Leu)
5g.37010118A>GCA3236565NIPBLc.4453A>G (p.Met1485Val)
c.1-54460A>G (n.1-54460A>G)
c.3709A>G (p.Met1237Val)
c.4255A>G (p.Met1419Val)
c.4072A>G (p.Met1358Val)
c.3793A>G (p.Met1265Val)
c.2836A>G (p.Met946Val)
c.2827A>G (p.Met943Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.37010118A>TCA359527682NIPBLc.4453A>T (p.Met1485Leu)
c.1-54460A>T (n.1-54460A>T)
c.3709A>T (p.Met1237Leu)
c.4255A>T (p.Met1419Leu)
c.4072A>T (p.Met1358Leu)
c.3793A>T (p.Met1265Leu)
c.2836A>T (p.Met946Leu)
c.2827A>T (p.Met943Leu)
5g.37010119T>ACA359527683NIPBLc.4454T>A (p.Met1485Lys)
c.1-54459T>A (n.1-54459T>A)
c.3710T>A (p.Met1237Lys)
c.4256T>A (p.Met1419Lys)
c.4073T>A (p.Met1358Lys)
c.3794T>A (p.Met1265Lys)
c.2837T>A (p.Met946Lys)
c.2828T>A (p.Met943Lys)
5g.37010119T>CCA359527684NIPBLc.4454T>C (p.Met1485Thr)
c.1-54459T>C (n.1-54459T>C)
c.3710T>C (p.Met1237Thr)
c.4256T>C (p.Met1419Thr)
c.4073T>C (p.Met1358Thr)
c.3794T>C (p.Met1265Thr)
c.2837T>C (p.Met946Thr)
c.2828T>C (p.Met943Thr)
 dbSNP gnomAD v3 gnomAD v4
5g.37010119T>GCA359527685NIPBLc.4454T>G (p.Met1485Arg)
c.1-54459T>G (n.1-54459T>G)
c.3710T>G (p.Met1237Arg)
c.4256T>G (p.Met1419Arg)
c.4073T>G (p.Met1358Arg)
c.3794T>G (p.Met1265Arg)
c.2837T>G (p.Met946Arg)
c.2828T>G (p.Met943Arg)
5g.37010119T=CA1539609289NIPBLc.4454T= (p.Met1485=)
c.1-54459T= (n.1-54459T=)
c.3710T= (p.Met1237=)
c.4256T= (p.Met1419=)
c.4073T= (p.Met1358=)
c.3794T= (p.Met1265=)
c.2837T= (p.Met946=)
c.2828T= (p.Met943=)
5g.37010120_37010121dupCA2573139628NIPBLc.4455_4456dup (p.Tyr1486CysfsTer?)
c.1-54458_1-54457dup (n.1-54458_1-54457dup)
c.3711_3712dup (p.Tyr1238CysfsTer?)
c.4257_4258dup (p.Tyr1420CysfsTer?)
c.4074_4075dup (p.Tyr1359CysfsTer?)
c.3795_3796dup (p.Tyr1266CysfsTer?)
c.2838_2839dup (p.Tyr947CysfsTer?)
c.2829_2830dup (p.Tyr944CysfsTer?)
 ClinVar dbSNP
5g.37010120G>ACA359527686NIPBLc.4455G>A (p.Met1485Ile)
c.1-54458G>A (n.1-54458G>A)
c.3711G>A (p.Met1237Ile)
c.4257G>A (p.Met1419Ile)
c.4074G>A (p.Met1358Ile)
c.3795G>A (p.Met1265Ile)
c.2838G>A (p.Met946Ile)
c.2829G>A (p.Met943Ile)
 ClinVar gnomAD v4
5g.37010120G>CCA359527687NIPBLc.4455G>C (p.Met1485Ile)
c.1-54458G>C (n.1-54458G>C)
c.3711G>C (p.Met1237Ile)
c.4257G>C (p.Met1419Ile)
c.4074G>C (p.Met1358Ile)
c.3795G>C (p.Met1265Ile)
c.2838G>C (p.Met946Ile)
c.2829G>C (p.Met943Ile)
5g.37010120G>TCA359527688NIPBLc.4455G>T (p.Met1485Ile)
c.1-54458G>T (n.1-54458G>T)
c.3711G>T (p.Met1237Ile)
c.4257G>T (p.Met1419Ile)
c.4074G>T (p.Met1358Ile)
c.3795G>T (p.Met1265Ile)
c.2838G>T (p.Met946Ile)
c.2829G>T (p.Met943Ile)
5g.37010121T>ACA359527689NIPBLc.4456T>A (p.Tyr1486Asn)
c.1-54457T>A (n.1-54457T>A)
c.3712T>A (p.Tyr1238Asn)
c.4258T>A (p.Tyr1420Asn)
c.4075T>A (p.Tyr1359Asn)
c.3796T>A (p.Tyr1266Asn)
c.2839T>A (p.Tyr947Asn)
c.2830T>A (p.Tyr944Asn)
5g.37010121T>CCA3236566NIPBLc.4456T>C (p.Tyr1486His)
c.1-54457T>C (n.1-54457T>C)
c.3712T>C (p.Tyr1238His)
c.4258T>C (p.Tyr1420His)
c.4075T>C (p.Tyr1359His)
c.3796T>C (p.Tyr1266His)
c.2839T>C (p.Tyr947His)
c.2830T>C (p.Tyr944His)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.37010121T>GCA359527690NIPBLc.4456T>G (p.Tyr1486Asp)
c.1-54457T>G (n.1-54457T>G)
c.3712T>G (p.Tyr1238Asp)
c.4258T>G (p.Tyr1420Asp)
c.4075T>G (p.Tyr1359Asp)
c.3796T>G (p.Tyr1266Asp)
c.2839T>G (p.Tyr947Asp)
c.2830T>G (p.Tyr944Asp)
5g.37010121T=CA1539609292NIPBLc.4456T= (p.Tyr1486=)
c.1-54457T= (n.1-54457T=)
c.3712T= (p.Tyr1238=)
c.4258T= (p.Tyr1420=)
c.4075T= (p.Tyr1359=)
c.3796T= (p.Tyr1266=)
c.2839T= (p.Tyr947=)
c.2830T= (p.Tyr944=)
5g.37010122A>CCA359527692NIPBLc.4457A>C (p.Tyr1486Ser)
c.1-54456A>C (n.1-54456A>C)
c.3713A>C (p.Tyr1238Ser)
c.4259A>C (p.Tyr1420Ser)
c.4076A>C (p.Tyr1359Ser)
c.3797A>C (p.Tyr1266Ser)
c.2840A>C (p.Tyr947Ser)
c.2831A>C (p.Tyr944Ser)
5g.37010122A>GCA359527693NIPBLc.4457A>G (p.Tyr1486Cys)
c.1-54456A>G (n.1-54456A>G)
c.3713A>G (p.Tyr1238Cys)
c.4259A>G (p.Tyr1420Cys)
c.4076A>G (p.Tyr1359Cys)
c.3797A>G (p.Tyr1266Cys)
c.2840A>G (p.Tyr947Cys)
c.2831A>G (p.Tyr944Cys)
 gnomAD v4
5g.37010122A>TCA359527691NIPBLc.4457A>T (p.Tyr1486Phe)
c.1-54456A>T (n.1-54456A>T)
c.3713A>T (p.Tyr1238Phe)
c.4259A>T (p.Tyr1420Phe)
c.4076A>T (p.Tyr1359Phe)
c.3797A>T (p.Tyr1266Phe)
c.2840A>T (p.Tyr947Phe)
c.2831A>T (p.Tyr944Phe)
5g.37010123T>ACA359527694NIPBLc.4458T>A (p.Tyr1486Ter)
c.1-54455T>A (n.1-54455T>A)
c.3714T>A (p.Tyr1238Ter)
c.4260T>A (p.Tyr1420Ter)
c.4077T>A (p.Tyr1359Ter)
c.3798T>A (p.Tyr1266Ter)
c.2841T>A (p.Tyr947Ter)
c.2832T>A (p.Tyr944Ter)
5g.37010123T>CCA443905295NIPBLc.4458T>C (p.Tyr1486=)
c.1-54455T>C (n.1-54455T>C)
c.3714T>C (p.Tyr1238=)
c.4260T>C (p.Tyr1420=)
c.4077T>C (p.Tyr1359=)
c.3798T>C (p.Tyr1266=)
c.2841T>C (p.Tyr947=)
c.2832T>C (p.Tyr944=)
5g.37010123T>GCA359527695NIPBLc.4458T>G (p.Tyr1486Ter)
c.1-54455T>G (n.1-54455T>G)
c.3714T>G (p.Tyr1238Ter)
c.4260T>G (p.Tyr1420Ter)
c.4077T>G (p.Tyr1359Ter)
c.3798T>G (p.Tyr1266Ter)
c.2841T>G (p.Tyr947Ter)
c.2832T>G (p.Tyr944Ter)
5g.37010124A>CCA359527696NIPBLc.4459A>C (p.Ile1487Leu)
c.1-54454A>C (n.1-54454A>C)
c.3715A>C (p.Ile1239Leu)
c.4261A>C (p.Ile1421Leu)
c.4078A>C (p.Ile1360Leu)
c.3799A>C (p.Ile1267Leu)
c.2842A>C (p.Ile948Leu)
c.2833A>C (p.Ile945Leu)
5g.37010124A>GCA359527697NIPBLc.4459A>G (p.Ile1487Val)
c.1-54454A>G (n.1-54454A>G)
c.3715A>G (p.Ile1239Val)
c.4261A>G (p.Ile1421Val)
c.4078A>G (p.Ile1360Val)
c.3799A>G (p.Ile1267Val)
c.2842A>G (p.Ile948Val)
c.2833A>G (p.Ile945Val)
 gnomAD v4
5g.37010124A>TCA359527698NIPBLc.4459A>T (p.Ile1487Phe)
c.1-54454A>T (n.1-54454A>T)
c.3715A>T (p.Ile1239Phe)
c.4261A>T (p.Ile1421Phe)
c.4078A>T (p.Ile1360Phe)
c.3799A>T (p.Ile1267Phe)
c.2842A>T (p.Ile948Phe)
c.2833A>T (p.Ile945Phe)
5g.37010125T>ACA359527699NIPBLc.4460T>A (p.Ile1487Asn)
c.1-54453T>A (n.1-54453T>A)
c.3716T>A (p.Ile1239Asn)
c.4262T>A (p.Ile1421Asn)
c.4079T>A (p.Ile1360Asn)
c.3800T>A (p.Ile1267Asn)
c.2843T>A (p.Ile948Asn)
c.2834T>A (p.Ile945Asn)
5g.37010125T>CCA359527700NIPBLc.4460T>C (p.Ile1487Thr)
c.1-54453T>C (n.1-54453T>C)
c.3716T>C (p.Ile1239Thr)
c.4262T>C (p.Ile1421Thr)
c.4079T>C (p.Ile1360Thr)
c.3800T>C (p.Ile1267Thr)
c.2843T>C (p.Ile948Thr)
c.2834T>C (p.Ile945Thr)
5g.37010125T>GCA359527701NIPBLc.4460T>G (p.Ile1487Ser)
c.1-54453T>G (n.1-54453T>G)
c.3716T>G (p.Ile1239Ser)
c.4262T>G (p.Ile1421Ser)
c.4079T>G (p.Ile1360Ser)
c.3800T>G (p.Ile1267Ser)
c.2843T>G (p.Ile948Ser)
c.2834T>G (p.Ile945Ser)
5g.37010126T>ACA443905297NIPBLc.4461T>A (p.Ile1487=)
c.1-54452T>A (n.1-54452T>A)
c.3717T>A (p.Ile1239=)
c.4263T>A (p.Ile1421=)
c.4080T>A (p.Ile1360=)
c.3801T>A (p.Ile1267=)
c.2844T>A (p.Ile948=)
c.2835T>A (p.Ile945=)
5g.37010126T>CCA443905298NIPBLc.4461T>C (p.Ile1487=)
c.1-54452T>C (n.1-54452T>C)
c.3717T>C (p.Ile1239=)
c.4263T>C (p.Ile1421=)
c.4080T>C (p.Ile1360=)
c.3801T>C (p.Ile1267=)
c.2844T>C (p.Ile948=)
c.2835T>C (p.Ile945=)
5g.37010126T>GCA359527702NIPBLc.4461T>G (p.Ile1487Met)
c.1-54452T>G (n.1-54452T>G)
c.3717T>G (p.Ile1239Met)
c.4263T>G (p.Ile1421Met)
c.4080T>G (p.Ile1360Met)
c.3801T>G (p.Ile1267Met)
c.2844T>G (p.Ile948Met)
c.2835T>G (p.Ile945Met)
5g.37010127C>ACA359527703NIPBLc.4462C>A (p.Gln1488Lys)
c.1-54451C>A (n.1-54451C>A)
c.3718C>A (p.Gln1240Lys)
c.4264C>A (p.Gln1422Lys)
c.4081C>A (p.Gln1361Lys)
c.3802C>A (p.Gln1268Lys)
c.2845C>A (p.Gln949Lys)
c.2836C>A (p.Gln946Lys)
5g.37010127C>GCA359527704NIPBLc.4462C>G (p.Gln1488Glu)
c.1-54451C>G (n.1-54451C>G)
c.3718C>G (p.Gln1240Glu)
c.4264C>G (p.Gln1422Glu)
c.4081C>G (p.Gln1361Glu)
c.3802C>G (p.Gln1268Glu)
c.2845C>G (p.Gln949Glu)
c.2836C>G (p.Gln946Glu)
5g.37010127C>TCA359527705NIPBLc.4462C>T (p.Gln1488Ter)
c.1-54451C>T (n.1-54451C>T)
c.3718C>T (p.Gln1240Ter)
c.4264C>T (p.Gln1422Ter)
c.4081C>T (p.Gln1361Ter)
c.3802C>T (p.Gln1268Ter)
c.2845C>T (p.Gln949Ter)
c.2836C>T (p.Gln946Ter)
5g.37010128A>CCA359527707NIPBLc.4463A>C (p.Gln1488Pro)
c.1-54450A>C (n.1-54450A>C)
c.3719A>C (p.Gln1240Pro)
c.4265A>C (p.Gln1422Pro)
c.4082A>C (p.Gln1361Pro)
c.3803A>C (p.Gln1268Pro)
c.2846A>C (p.Gln949Pro)
c.2837A>C (p.Gln946Pro)
5g.37010128A>GCA359527708NIPBLc.4463A>G (p.Gln1488Arg)
c.1-54450A>G (n.1-54450A>G)
c.3719A>G (p.Gln1240Arg)
c.4265A>G (p.Gln1422Arg)
c.4082A>G (p.Gln1361Arg)
c.3803A>G (p.Gln1268Arg)
c.2846A>G (p.Gln949Arg)
c.2837A>G (p.Gln946Arg)
5g.37010128A>TCA359527706NIPBLc.4463A>T (p.Gln1488Leu)
c.1-54450A>T (n.1-54450A>T)
c.3719A>T (p.Gln1240Leu)
c.4265A>T (p.Gln1422Leu)
c.4082A>T (p.Gln1361Leu)
c.3803A>T (p.Gln1268Leu)
c.2846A>T (p.Gln949Leu)
c.2837A>T (p.Gln946Leu)
5g.37010129G>ACA443905301NIPBLc.4464G>A (p.Gln1488=)
c.1-54449G>A (n.1-54449G>A)
c.3720G>A (p.Gln1240=)
c.4266G>A (p.Gln1422=)
c.4083G>A (p.Gln1361=)
c.3804G>A (p.Gln1268=)
c.2847G>A (p.Gln949=)
c.2838G>A (p.Gln946=)
5g.37010129G>CCA359527709NIPBLc.4464G>C (p.Gln1488His)
c.1-54449G>C (n.1-54449G>C)
c.3720G>C (p.Gln1240His)
c.4266G>C (p.Gln1422His)
c.4083G>C (p.Gln1361His)
c.3804G>C (p.Gln1268His)
c.2847G>C (p.Gln949His)
c.2838G>C (p.Gln946His)
5g.37010129G>TCA359527710NIPBLc.4464G>T (p.Gln1488His)
c.1-54449G>T (n.1-54449G>T)
c.3720G>T (p.Gln1240His)
c.4266G>T (p.Gln1422His)
c.4083G>T (p.Gln1361His)
c.3804G>T (p.Gln1268His)
c.2847G>T (p.Gln949His)
c.2838G>T (p.Gln946His)
 COSMIC COSMIC
5g.37010130A>CCA359527711NIPBLc.4465A>C (p.Met1489Leu)
c.1-54448A>C (n.1-54448A>C)
c.3721A>C (p.Met1241Leu)
c.4267A>C (p.Met1423Leu)
c.4084A>C (p.Met1362Leu)
c.3805A>C (p.Met1269Leu)
c.2848A>C (p.Met950Leu)
c.2839A>C (p.Met947Leu)
5g.37010130A>GCA359527712NIPBLc.4465A>G (p.Met1489Val)
c.1-54448A>G (n.1-54448A>G)
c.3721A>G (p.Met1241Val)
c.4267A>G (p.Met1423Val)
c.4084A>G (p.Met1362Val)
c.3805A>G (p.Met1269Val)
c.2848A>G (p.Met950Val)
c.2839A>G (p.Met947Val)
5g.37010130A>TCA359527713NIPBLc.4465A>T (p.Met1489Leu)
c.1-54448A>T (n.1-54448A>T)
c.3721A>T (p.Met1241Leu)
c.4267A>T (p.Met1423Leu)
c.4084A>T (p.Met1362Leu)
c.3805A>T (p.Met1269Leu)
c.2848A>T (p.Met950Leu)
c.2839A>T (p.Met947Leu)
5g.37010131T>ACA359527716NIPBLc.4466T>A (p.Met1489Lys)
c.1-54447T>A (n.1-54447T>A)
c.3722T>A (p.Met1241Lys)
c.4268T>A (p.Met1423Lys)
c.4085T>A (p.Met1362Lys)
c.3806T>A (p.Met1269Lys)
c.2849T>A (p.Met950Lys)
c.2840T>A (p.Met947Lys)
5g.37010131T>CCA359527714NIPBLc.4466T>C (p.Met1489Thr)
c.1-54447T>C (n.1-54447T>C)
c.3722T>C (p.Met1241Thr)
c.4268T>C (p.Met1423Thr)
c.4085T>C (p.Met1362Thr)
c.3806T>C (p.Met1269Thr)
c.2849T>C (p.Met950Thr)
c.2840T>C (p.Met947Thr)
5g.37010131T>GCA359527715NIPBLc.4466T>G (p.Met1489Arg)
c.1-54447T>G (n.1-54447T>G)
c.3722T>G (p.Met1241Arg)
c.4268T>G (p.Met1423Arg)
c.4085T>G (p.Met1362Arg)
c.3806T>G (p.Met1269Arg)
c.2849T>G (p.Met950Arg)
c.2840T>G (p.Met947Arg)
5g.37010132G>ACA359527717NIPBLc.4467G>A (p.Met1489Ile)
c.1-54446G>A (n.1-54446G>A)
c.3723G>A (p.Met1241Ile)
c.4269G>A (p.Met1423Ile)
c.4086G>A (p.Met1362Ile)
c.3807G>A (p.Met1269Ile)
c.2850G>A (p.Met950Ile)
c.2841G>A (p.Met947Ile)
5g.37010132G>CCA359527718NIPBLc.4467G>C (p.Met1489Ile)
c.1-54446G>C (n.1-54446G>C)
c.3723G>C (p.Met1241Ile)
c.4269G>C (p.Met1423Ile)
c.4086G>C (p.Met1362Ile)
c.3807G>C (p.Met1269Ile)
c.2850G>C (p.Met950Ile)
c.2841G>C (p.Met947Ile)
5g.37010132G>TCA359527719NIPBLc.4467G>T (p.Met1489Ile)
c.1-54446G>T (n.1-54446G>T)
c.3723G>T (p.Met1241Ile)
c.4269G>T (p.Met1423Ile)
c.4086G>T (p.Met1362Ile)
c.3807G>T (p.Met1269Ile)
c.2850G>T (p.Met950Ile)
c.2841G>T (p.Met947Ile)
5g.37010133G>ACA359527720NIPBLc.4468G>A (p.Val1490Ile)
c.1-54445G>A (n.1-54445G>A)
c.3724G>A (p.Val1242Ile)
c.4270G>A (p.Val1424Ile)
c.4087G>A (p.Val1363Ile)
c.3808G>A (p.Val1270Ile)
c.2851G>A (p.Val951Ile)
c.2842G>A (p.Val948Ile)
5g.37010133G>CCA359527721NIPBLc.4468G>C (p.Val1490Leu)
c.1-54445G>C (n.1-54445G>C)
c.3724G>C (p.Val1242Leu)
c.4270G>C (p.Val1424Leu)
c.4087G>C (p.Val1363Leu)
c.3808G>C (p.Val1270Leu)
c.2851G>C (p.Val951Leu)
c.2842G>C (p.Val948Leu)
5g.37010133G>TCA359527722NIPBLc.4468G>T (p.Val1490Phe)
c.1-54445G>T (n.1-54445G>T)
c.3724G>T (p.Val1242Phe)
c.4270G>T (p.Val1424Phe)
c.4087G>T (p.Val1363Phe)
c.3808G>T (p.Val1270Phe)
c.2851G>T (p.Val951Phe)
c.2842G>T (p.Val948Phe)
5g.37010134T>ACA359527725NIPBLc.4469T>A (p.Val1490Asp)
c.1-54444T>A (n.1-54444T>A)
c.3725T>A (p.Val1242Asp)
c.4271T>A (p.Val1424Asp)
c.4088T>A (p.Val1363Asp)
c.3809T>A (p.Val1270Asp)
c.2852T>A (p.Val951Asp)
c.2843T>A (p.Val948Asp)
5g.37010134T>CCA359527724NIPBLc.4469T>C (p.Val1490Ala)
c.1-54444T>C (n.1-54444T>C)
c.3725T>C (p.Val1242Ala)
c.4271T>C (p.Val1424Ala)
c.4088T>C (p.Val1363Ala)
c.3809T>C (p.Val1270Ala)
c.2852T>C (p.Val951Ala)
c.2843T>C (p.Val948Ala)
5g.37010134T>GCA359527723NIPBLc.4469T>G (p.Val1490Gly)
c.1-54444T>G (n.1-54444T>G)
c.3725T>G (p.Val1242Gly)
c.4271T>G (p.Val1424Gly)
c.4088T>G (p.Val1363Gly)
c.3809T>G (p.Val1270Gly)
c.2852T>G (p.Val951Gly)
c.2843T>G (p.Val948Gly)
5g.37010135T>ACA443905308NIPBLc.4470T>A (p.Val1490=)
c.1-54443T>A (n.1-54443T>A)
c.3726T>A (p.Val1242=)
c.4272T>A (p.Val1424=)
c.4089T>A (p.Val1363=)
c.3810T>A (p.Val1270=)
c.2853T>A (p.Val951=)
c.2844T>A (p.Val948=)
 gnomAD v4
5g.37010135T>CCA443905307NIPBLc.4470T>C (p.Val1490=)
c.1-54443T>C (n.1-54443T>C)
c.3726T>C (p.Val1242=)
c.4272T>C (p.Val1424=)
c.4089T>C (p.Val1363=)
c.3810T>C (p.Val1270=)
c.2853T>C (p.Val951=)
c.2844T>C (p.Val948=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.37010135T>GCA443905305NIPBLc.4470T>G (p.Val1490=)
c.1-54443T>G (n.1-54443T>G)
c.3726T>G (p.Val1242=)
c.4272T>G (p.Val1424=)
c.4089T>G (p.Val1363=)
c.3810T>G (p.Val1270=)
c.2853T>G (p.Val951=)
c.2844T>G (p.Val948=)
5g.37010135T=CA1539609294NIPBLc.4470T= (p.Val1490=)
c.1-54443T= (n.1-54443T=)
c.3726T= (p.Val1242=)
c.4272T= (p.Val1424=)
c.4089T= (p.Val1363=)
c.3810T= (p.Val1270=)
c.2853T= (p.Val951=)
c.2844T= (p.Val948=)
5g.37010136A>CCA359527727NIPBLc.4471A>C (p.Thr1491Pro)
c.1-54442A>C (n.1-54442A>C)
c.3727A>C (p.Thr1243Pro)
c.4273A>C (p.Thr1425Pro)
c.4090A>C (p.Thr1364Pro)
c.3811A>C (p.Thr1271Pro)
c.2854A>C (p.Thr952Pro)
c.2845A>C (p.Thr949Pro)
5g.37010136A>GCA359527726NIPBLc.4471A>G (p.Thr1491Ala)
c.1-54442A>G (n.1-54442A>G)
c.3727A>G (p.Thr1243Ala)
c.4273A>G (p.Thr1425Ala)
c.4090A>G (p.Thr1364Ala)
c.3811A>G (p.Thr1271Ala)
c.2854A>G (p.Thr952Ala)
c.2845A>G (p.Thr949Ala)
 COSMIC COSMIC
5g.37010136A>TCA359527728NIPBLc.4471A>T (p.Thr1491Ser)
c.1-54442A>T (n.1-54442A>T)
c.3727A>T (p.Thr1243Ser)
c.4273A>T (p.Thr1425Ser)
c.4090A>T (p.Thr1364Ser)
c.3811A>T (p.Thr1271Ser)
c.2854A>T (p.Thr952Ser)
c.2845A>T (p.Thr949Ser)
5g.37010137C>ACA359527729NIPBLc.4472C>A (p.Thr1491Lys)
c.1-54441C>A (n.1-54441C>A)
c.3728C>A (p.Thr1243Lys)
c.4274C>A (p.Thr1425Lys)
c.4091C>A (p.Thr1364Lys)
c.3812C>A (p.Thr1271Lys)
c.2855C>A (p.Thr952Lys)
c.2846C>A (p.Thr949Lys)
5g.37010137C>GCA359527731NIPBLc.4472C>G (p.Thr1491Arg)
c.1-54441C>G (n.1-54441C>G)
c.3728C>G (p.Thr1243Arg)
c.4274C>G (p.Thr1425Arg)
c.4091C>G (p.Thr1364Arg)
c.3812C>G (p.Thr1271Arg)
c.2855C>G (p.Thr952Arg)
c.2846C>G (p.Thr949Arg)
5g.37010137C>TCA359527730NIPBLc.4472C>T (p.Thr1491Ile)
c.1-54441C>T (n.1-54441C>T)
c.3728C>T (p.Thr1243Ile)
c.4274C>T (p.Thr1425Ile)
c.4091C>T (p.Thr1364Ile)
c.3812C>T (p.Thr1271Ile)
c.2855C>T (p.Thr952Ile)
c.2846C>T (p.Thr949Ile)
 ClinVar
5g.37010138A=CA1539609295NIPBLc.4473A= (p.Thr1491=)
c.1-54440A= (n.1-54440A=)
c.3729A= (p.Thr1243=)
c.4275A= (p.Thr1425=)
c.4092A= (p.Thr1364=)
c.3813A= (p.Thr1271=)
c.2856A= (p.Thr952=)
c.2847A= (p.Thr949=)
5g.37010138A>CCA443905310NIPBLc.4473A>C (p.Thr1491=)
c.1-54440A>C (n.1-54440A>C)
c.3729A>C (p.Thr1243=)
c.4275A>C (p.Thr1425=)
c.4092A>C (p.Thr1364=)
c.3813A>C (p.Thr1271=)
c.2856A>C (p.Thr952=)
c.2847A>C (p.Thr949=)
 dbSNP gnomAD v3 gnomAD v4
5g.37010138A>GCA443905312NIPBLc.4473A>G (p.Thr1491=)
c.1-54440A>G (n.1-54440A>G)
c.3729A>G (p.Thr1243=)
c.4275A>G (p.Thr1425=)
c.4092A>G (p.Thr1364=)
c.3813A>G (p.Thr1271=)
c.2856A>G (p.Thr952=)
c.2847A>G (p.Thr949=)
5g.37010138A>TCA443905311NIPBLc.4473A>T (p.Thr1491=)
c.1-54440A>T (n.1-54440A>T)
c.3729A>T (p.Thr1243=)
c.4275A>T (p.Thr1425=)
c.4092A>T (p.Thr1364=)
c.3813A>T (p.Thr1271=)
c.2856A>T (p.Thr952=)
c.2847A>T (p.Thr949=)
5g.37010139G>ACA359527732NIPBLc.4474G>A (p.Ala1492Thr)
c.1-54439G>A (n.1-54439G>A)
c.3730G>A (p.Ala1244Thr)
c.4276G>A (p.Ala1426Thr)
c.4093G>A (p.Ala1365Thr)
c.3814G>A (p.Ala1272Thr)
c.2857G>A (p.Ala953Thr)
c.2848G>A (p.Ala950Thr)
5g.37010139G>CCA359527734NIPBLc.4474G>C (p.Ala1492Pro)
c.1-54439G>C (n.1-54439G>C)
c.3730G>C (p.Ala1244Pro)
c.4276G>C (p.Ala1426Pro)
c.4093G>C (p.Ala1365Pro)
c.3814G>C (p.Ala1272Pro)
c.2857G>C (p.Ala953Pro)
c.2848G>C (p.Ala950Pro)
5g.37010139G>TCA359527733NIPBLc.4474G>T (p.Ala1492Ser)
c.1-54439G>T (n.1-54439G>T)
c.3730G>T (p.Ala1244Ser)
c.4276G>T (p.Ala1426Ser)
c.4093G>T (p.Ala1365Ser)
c.3814G>T (p.Ala1272Ser)
c.2857G>T (p.Ala953Ser)
c.2848G>T (p.Ala950Ser)
5g.37010140C>ACA359527735NIPBLc.4475C>A (p.Ala1492Glu)
c.1-54438C>A (n.1-54438C>A)
c.3731C>A (p.Ala1244Glu)
c.4277C>A (p.Ala1426Glu)
c.4094C>A (p.Ala1365Glu)
c.3815C>A (p.Ala1272Glu)
c.2858C>A (p.Ala953Glu)
c.2849C>A (p.Ala950Glu)
5g.37010140C>GCA359527736NIPBLc.4475C>G (p.Ala1492Gly)
c.1-54438C>G (n.1-54438C>G)
c.3731C>G (p.Ala1244Gly)
c.4277C>G (p.Ala1426Gly)
c.4094C>G (p.Ala1365Gly)
c.3815C>G (p.Ala1272Gly)
c.2858C>G (p.Ala953Gly)
c.2849C>G (p.Ala950Gly)
5g.37010140C>TCA359527737NIPBLc.4475C>T (p.Ala1492Val)
c.1-54438C>T (n.1-54438C>T)
c.3731C>T (p.Ala1244Val)
c.4277C>T (p.Ala1426Val)
c.4094C>T (p.Ala1365Val)
c.3815C>T (p.Ala1272Val)
c.2858C>T (p.Ala953Val)
c.2849C>T (p.Ala950Val)
5g.37010141A>CCA443905313NIPBLc.4476A>C (p.Ala1492=)
c.1-54437A>C (n.1-54437A>C)
c.3732A>C (p.Ala1244=)
c.4278A>C (p.Ala1426=)
c.4095A>C (p.Ala1365=)
c.3816A>C (p.Ala1272=)
c.2859A>C (p.Ala953=)
c.2850A>C (p.Ala950=)
5g.37010141A>GCA443905315NIPBLc.4476A>G (p.Ala1492=)
c.1-54437A>G (n.1-54437A>G)
c.3732A>G (p.Ala1244=)
c.4278A>G (p.Ala1426=)
c.4095A>G (p.Ala1365=)
c.3816A>G (p.Ala1272=)
c.2859A>G (p.Ala953=)
c.2850A>G (p.Ala950=)
5g.37010141A>TCA443905317NIPBLc.4476A>T (p.Ala1492=)
c.1-54437A>T (n.1-54437A>T)
c.3732A>T (p.Ala1244=)
c.4278A>T (p.Ala1426=)
c.4095A>T (p.Ala1365=)
c.3816A>T (p.Ala1272=)
c.2859A>T (p.Ala953=)
c.2850A>T (p.Ala950=)
5g.37010142C>ACA359527739NIPBLc.4477C>A (p.Leu1493Met)
c.1-54436C>A (n.1-54436C>A)
c.3733C>A (p.Leu1245Met)
c.4279C>A (p.Leu1427Met)
c.4096C>A (p.Leu1366Met)
c.3817C>A (p.Leu1273Met)
c.2860C>A (p.Leu954Met)
c.2851C>A (p.Leu951Met)
5g.37010142C>GCA359527741NIPBLc.4477C>G (p.Leu1493Val)
c.1-54436C>G (n.1-54436C>G)
c.3733C>G (p.Leu1245Val)
c.4279C>G (p.Leu1427Val)
c.4096C>G (p.Leu1366Val)
c.3817C>G (p.Leu1273Val)
c.2860C>G (p.Leu954Val)
c.2851C>G (p.Leu951Val)
5g.37010142C>TCA443905319NIPBLc.4477C>T (p.Leu1493=)
c.1-54436C>T (n.1-54436C>T)
c.3733C>T (p.Leu1245=)
c.4279C>T (p.Leu1427=)
c.4096C>T (p.Leu1366=)
c.3817C>T (p.Leu1273=)
c.2860C>T (p.Leu954=)
c.2851C>T (p.Leu951=)
5g.37010143T>ACA359527744NIPBLc.4478T>A (p.Leu1493Gln)
c.1-54435T>A (n.1-54435T>A)
c.3734T>A (p.Leu1245Gln)
c.4280T>A (p.Leu1427Gln)
c.4097T>A (p.Leu1366Gln)
c.3818T>A (p.Leu1273Gln)
c.2861T>A (p.Leu954Gln)
c.2852T>A (p.Leu951Gln)
5g.37010143T>CCA359527746NIPBLc.4478T>C (p.Leu1493Pro)
c.1-54435T>C (n.1-54435T>C)
c.3734T>C (p.Leu1245Pro)
c.4280T>C (p.Leu1427Pro)
c.4097T>C (p.Leu1366Pro)
c.3818T>C (p.Leu1273Pro)
c.2861T>C (p.Leu954Pro)
c.2852T>C (p.Leu951Pro)
5g.37010143T>GCA359527748NIPBLc.4478T>G (p.Leu1493Arg)
c.1-54435T>G (n.1-54435T>G)
c.3734T>G (p.Leu1245Arg)
c.4280T>G (p.Leu1427Arg)
c.4097T>G (p.Leu1366Arg)
c.3818T>G (p.Leu1273Arg)
c.2861T>G (p.Leu954Arg)
c.2852T>G (p.Leu951Arg)
5g.37010144G>ACA443905320NIPBLc.4479G>A (p.Leu1493=)
c.1-54434G>A (n.1-54434G>A)
c.3735G>A (p.Leu1245=)
c.4281G>A (p.Leu1427=)
c.4098G>A (p.Leu1366=)
c.3819G>A (p.Leu1273=)
c.2862G>A (p.Leu954=)
c.2853G>A (p.Leu951=)
5g.37010144G>CCA443905321NIPBLc.4479G>C (p.Leu1493=)
c.1-54434G>C (n.1-54434G>C)
c.3735G>C (p.Leu1245=)
c.4281G>C (p.Leu1427=)
c.4098G>C (p.Leu1366=)
c.3819G>C (p.Leu1273=)
c.2862G>C (p.Leu954=)
c.2853G>C (p.Leu951=)
5g.37010144G>TCA443905322NIPBLc.4479G>T (p.Leu1493=)
c.1-54434G>T (n.1-54434G>T)
c.3735G>T (p.Leu1245=)
c.4281G>T (p.Leu1427=)
c.4098G>T (p.Leu1366=)
c.3819G>T (p.Leu1273=)
c.2862G>T (p.Leu954=)
c.2853G>T (p.Leu951=)
5g.37010145G>ACA359527751NIPBLc.4480G>A (p.Val1494Ile)
c.1-54433G>A (n.1-54433G>A)
c.3736G>A (p.Val1246Ile)
c.4282G>A (p.Val1428Ile)
c.4099G>A (p.Val1367Ile)
c.3820G>A (p.Val1274Ile)
c.2863G>A (p.Val955Ile)
c.2854G>A (p.Val952Ile)
5g.37010145G>CCA359527753NIPBLc.4480G>C (p.Val1494Leu)
c.1-54433G>C (n.1-54433G>C)
c.3736G>C (p.Val1246Leu)
c.4282G>C (p.Val1428Leu)
c.4099G>C (p.Val1367Leu)
c.3820G>C (p.Val1274Leu)
c.2863G>C (p.Val955Leu)
c.2854G>C (p.Val952Leu)
5g.37010145G>TCA359527755NIPBLc.4480G>T (p.Val1494Phe)
c.1-54433G>T (n.1-54433G>T)
c.3736G>T (p.Val1246Phe)
c.4282G>T (p.Val1428Phe)
c.4099G>T (p.Val1367Phe)
c.3820G>T (p.Val1274Phe)
c.2863G>T (p.Val955Phe)
c.2854G>T (p.Val952Phe)
5g.37010146T>ACA359527763NIPBLc.4481T>A (p.Val1494Asp)
c.1-54432T>A (n.1-54432T>A)
c.3737T>A (p.Val1246Asp)
c.4283T>A (p.Val1428Asp)
c.4100T>A (p.Val1367Asp)
c.3821T>A (p.Val1274Asp)
c.2864T>A (p.Val955Asp)
c.2855T>A (p.Val952Asp)
5g.37010146T>CCA359527761NIPBLc.4481T>C (p.Val1494Ala)
c.1-54432T>C (n.1-54432T>C)
c.3737T>C (p.Val1246Ala)
c.4283T>C (p.Val1428Ala)
c.4100T>C (p.Val1367Ala)
c.3821T>C (p.Val1274Ala)
c.2864T>C (p.Val955Ala)
c.2855T>C (p.Val952Ala)
5g.37010146T>GCA359527759NIPBLc.4481T>G (p.Val1494Gly)
c.1-54432T>G (n.1-54432T>G)
c.3737T>G (p.Val1246Gly)
c.4283T>G (p.Val1428Gly)
c.4100T>G (p.Val1367Gly)
c.3821T>G (p.Val1274Gly)
c.2864T>G (p.Val955Gly)
c.2855T>G (p.Val952Gly)
5g.37010147T>ACA443905326NIPBLc.4482T>A (p.Val1494=)
c.1-54431T>A (n.1-54431T>A)
c.3738T>A (p.Val1246=)
c.4284T>A (p.Val1428=)
c.4101T>A (p.Val1367=)
c.3822T>A (p.Val1274=)
c.2865T>A (p.Val955=)
c.2856T>A (p.Val952=)
5g.37010147T>CCA443905327NIPBLc.4482T>C (p.Val1494=)
c.1-54431T>C (n.1-54431T>C)
c.3738T>C (p.Val1246=)
c.4284T>C (p.Val1428=)
c.4101T>C (p.Val1367=)
c.3822T>C (p.Val1274=)
c.2865T>C (p.Val955=)
c.2856T>C (p.Val952=)
5g.37010147T>GCA443905328NIPBLc.4482T>G (p.Val1494=)
c.1-54431T>G (n.1-54431T>G)
c.3738T>G (p.Val1246=)
c.4284T>G (p.Val1428=)
c.4101T>G (p.Val1367=)
c.3822T>G (p.Val1274=)
c.2865T>G (p.Val955=)
c.2856T>G (p.Val952=)
5g.37010148T>ACA359527766NIPBLc.4483T>A (p.Leu1495Ile)
c.1-54430T>A (n.1-54430T>A)
c.3739T>A (p.Leu1247Ile)
c.4285T>A (p.Leu1429Ile)
c.4102T>A (p.Leu1368Ile)
c.3823T>A (p.Leu1275Ile)
c.2866T>A (p.Leu956Ile)
c.2857T>A (p.Leu953Ile)
5g.37010148T>CCA443905329NIPBLc.4483T>C (p.Leu1495=)
c.1-54430T>C (n.1-54430T>C)
c.3739T>C (p.Leu1247=)
c.4285T>C (p.Leu1429=)
c.4102T>C (p.Leu1368=)
c.3823T>C (p.Leu1275=)
c.2866T>C (p.Leu956=)
c.2857T>C (p.Leu953=)
5g.37010148T>GCA359527768NIPBLc.4483T>G (p.Leu1495Val)
c.1-54430T>G (n.1-54430T>G)
c.3739T>G (p.Leu1247Val)
c.4285T>G (p.Leu1429Val)
c.4102T>G (p.Leu1368Val)
c.3823T>G (p.Leu1275Val)
c.2866T>G (p.Leu956Val)
c.2857T>G (p.Leu953Val)
5g.37010149T>ACA359527771NIPBLc.4484T>A (p.Leu1495Ter)
c.1-54429T>A (n.1-54429T>A)
c.3740T>A (p.Leu1247Ter)
c.4286T>A (p.Leu1429Ter)
c.4103T>A (p.Leu1368Ter)
c.3824T>A (p.Leu1275Ter)
c.2867T>A (p.Leu956Ter)
c.2858T>A (p.Leu953Ter)
5g.37010149T>CCA359527772NIPBLc.4484T>C (p.Leu1495Ser)
c.1-54429T>C (n.1-54429T>C)
c.3740T>C (p.Leu1247Ser)
c.4286T>C (p.Leu1429Ser)
c.4103T>C (p.Leu1368Ser)
c.3824T>C (p.Leu1275Ser)
c.2867T>C (p.Leu956Ser)
c.2858T>C (p.Leu953Ser)
 COSMIC COSMIC
5g.37010149T>GCA359527775NIPBLc.4484T>G (p.Leu1495Ter)
c.1-54429T>G (n.1-54429T>G)
c.3740T>G (p.Leu1247Ter)
c.4286T>G (p.Leu1429Ter)
c.4103T>G (p.Leu1368Ter)
c.3824T>G (p.Leu1275Ter)
c.2867T>G (p.Leu956Ter)
c.2858T>G (p.Leu953Ter)
5g.37010150A>CCA359527778NIPBLc.4485A>C (p.Leu1495Phe)
c.1-54428A>C (n.1-54428A>C)
c.3741A>C (p.Leu1247Phe)
c.4287A>C (p.Leu1429Phe)
c.4104A>C (p.Leu1368Phe)
c.3825A>C (p.Leu1275Phe)
c.2868A>C (p.Leu956Phe)
c.2859A>C (p.Leu953Phe)
5g.37010150A>GCA443905333NIPBLc.4485A>G (p.Leu1495=)
c.1-54428A>G (n.1-54428A>G)
c.3741A>G (p.Leu1247=)
c.4287A>G (p.Leu1429=)
c.4104A>G (p.Leu1368=)
c.3825A>G (p.Leu1275=)
c.2868A>G (p.Leu956=)
c.2859A>G (p.Leu953=)
 gnomAD v4
5g.37010150A>TCA359527780NIPBLc.4485A>T (p.Leu1495Phe)
c.1-54428A>T (n.1-54428A>T)
c.3741A>T (p.Leu1247Phe)
c.4287A>T (p.Leu1429Phe)
c.4104A>T (p.Leu1368Phe)
c.3825A>T (p.Leu1275Phe)
c.2868A>T (p.Leu956Phe)
c.2859A>T (p.Leu953Phe)
5g.37010151C>ACA359527781NIPBLc.4486C>A (p.Gln1496Lys)
c.1-54427C>A (n.1-54427C>A)
c.3742C>A (p.Gln1248Lys)
c.4288C>A (p.Gln1430Lys)
c.4105C>A (p.Gln1369Lys)
c.3826C>A (p.Gln1276Lys)
c.2869C>A (p.Gln957Lys)
c.2860C>A (p.Gln954Lys)
 gnomAD v4
5g.37010151C>GCA359527783NIPBLc.4486C>G (p.Gln1496Glu)
c.1-54427C>G (n.1-54427C>G)
c.3742C>G (p.Gln1248Glu)
c.4288C>G (p.Gln1430Glu)
c.4105C>G (p.Gln1369Glu)
c.3826C>G (p.Gln1276Glu)
c.2869C>G (p.Gln957Glu)
c.2860C>G (p.Gln954Glu)
5g.37010151C>TCA359527786NIPBLc.4486C>T (p.Gln1496Ter)
c.1-54427C>T (n.1-54427C>T)
c.3742C>T (p.Gln1248Ter)
c.4288C>T (p.Gln1430Ter)
c.4105C>T (p.Gln1369Ter)
c.3826C>T (p.Gln1276Ter)
c.2869C>T (p.Gln957Ter)
c.2860C>T (p.Gln954Ter)
5g.37010152A>CCA359527788NIPBLc.4487A>C (p.Gln1496Pro)
c.1-54426A>C (n.1-54426A>C)
c.3743A>C (p.Gln1248Pro)
c.4289A>C (p.Gln1430Pro)
c.4106A>C (p.Gln1369Pro)
c.3827A>C (p.Gln1276Pro)
c.2870A>C (p.Gln957Pro)
c.2861A>C (p.Gln954Pro)
5g.37010152A>GCA359527790NIPBLc.4487A>G (p.Gln1496Arg)
c.1-54426A>G (n.1-54426A>G)
c.3743A>G (p.Gln1248Arg)
c.4289A>G (p.Gln1430Arg)
c.4106A>G (p.Gln1369Arg)
c.3827A>G (p.Gln1276Arg)
c.2870A>G (p.Gln957Arg)
c.2861A>G (p.Gln954Arg)
5g.37010152A>TCA359527792NIPBLc.4487A>T (p.Gln1496Leu)
c.1-54426A>T (n.1-54426A>T)
c.3743A>T (p.Gln1248Leu)
c.4289A>T (p.Gln1430Leu)
c.4106A>T (p.Gln1369Leu)
c.3827A>T (p.Gln1276Leu)
c.2870A>T (p.Gln957Leu)
c.2861A>T (p.Gln954Leu)
5g.37010153A>CCA359527798NIPBLc.4488A>C (p.Gln1496His)
c.1-54425A>C (n.1-54425A>C)
c.3744A>C (p.Gln1248His)
c.4290A>C (p.Gln1430His)
c.4107A>C (p.Gln1369His)
c.3828A>C (p.Gln1276His)
c.2871A>C (p.Gln957His)
c.2862A>C (p.Gln954His)
5g.37010153A>GCA443905334NIPBLc.4488A>G (p.Gln1496=)
c.1-54425A>G (n.1-54425A>G)
c.3744A>G (p.Gln1248=)
c.4290A>G (p.Gln1430=)
c.4107A>G (p.Gln1369=)
c.3828A>G (p.Gln1276=)
c.2871A>G (p.Gln957=)
c.2862A>G (p.Gln954=)
 gnomAD v4
5g.37010153A>TCA359527795NIPBLc.4488A>T (p.Gln1496His)
c.1-54425A>T (n.1-54425A>T)
c.3744A>T (p.Gln1248His)
c.4290A>T (p.Gln1430His)
c.4107A>T (p.Gln1369His)
c.3828A>T (p.Gln1276His)
c.2871A>T (p.Gln957His)
c.2862A>T (p.Gln954His)
5g.37010154C>ACA359527801NIPBLc.4489C>A (p.Leu1497Ile)
c.1-54424C>A (n.1-54424C>A)
c.3745C>A (p.Leu1249Ile)
c.4291C>A (p.Leu1431Ile)
c.4108C>A (p.Leu1370Ile)
c.3829C>A (p.Leu1277Ile)
c.2872C>A (p.Leu958Ile)
c.2863C>A (p.Leu955Ile)
5g.37010154C>GCA359527803NIPBLc.4489C>G (p.Leu1497Val)
c.1-54424C>G (n.1-54424C>G)
c.3745C>G (p.Leu1249Val)
c.4291C>G (p.Leu1431Val)
c.4108C>G (p.Leu1370Val)
c.3829C>G (p.Leu1277Val)
c.2872C>G (p.Leu958Val)
c.2863C>G (p.Leu955Val)
5g.37010154C>TCA359527804NIPBLc.4489C>T (p.Leu1497Phe)
c.1-54424C>T (n.1-54424C>T)
c.3745C>T (p.Leu1249Phe)
c.4291C>T (p.Leu1431Phe)
c.4108C>T (p.Leu1370Phe)
c.3829C>T (p.Leu1277Phe)
c.2872C>T (p.Leu958Phe)
c.2863C>T (p.Leu955Phe)
5g.37010155T>ACA359527807NIPBLc.4490T>A (p.Leu1497His)
c.1-54423T>A (n.1-54423T>A)
c.3746T>A (p.Leu1249His)
c.4292T>A (p.Leu1431His)
c.4109T>A (p.Leu1370His)
c.3830T>A (p.Leu1277His)
c.2873T>A (p.Leu958His)
c.2864T>A (p.Leu955His)
5g.37010155T>CCA359527809NIPBLc.4490T>C (p.Leu1497Pro)
c.1-54423T>C (n.1-54423T>C)
c.3746T>C (p.Leu1249Pro)
c.4292T>C (p.Leu1431Pro)
c.4109T>C (p.Leu1370Pro)
c.3830T>C (p.Leu1277Pro)
c.2873T>C (p.Leu958Pro)
c.2864T>C (p.Leu955Pro)
5g.37010155T>GCA359527811NIPBLc.4490T>G (p.Leu1497Arg)
c.1-54423T>G (n.1-54423T>G)
c.3746T>G (p.Leu1249Arg)
c.4292T>G (p.Leu1431Arg)
c.4109T>G (p.Leu1370Arg)
c.3830T>G (p.Leu1277Arg)
c.2873T>G (p.Leu958Arg)
c.2864T>G (p.Leu955Arg)
5g.37010156T>ACA443905335NIPBLc.4491T>A (p.Leu1497=)
c.1-54422T>A (n.1-54422T>A)
c.3747T>A (p.Leu1249=)
c.4293T>A (p.Leu1431=)
c.4110T>A (p.Leu1370=)
c.3831T>A (p.Leu1277=)
c.2874T>A (p.Leu958=)
c.2865T>A (p.Leu955=)
5g.37010156T>CCA443905336NIPBLc.4491T>C (p.Leu1497=)
c.1-54422T>C (n.1-54422T>C)
c.3747T>C (p.Leu1249=)
c.4293T>C (p.Leu1431=)
c.4110T>C (p.Leu1370=)
c.3831T>C (p.Leu1277=)
c.2874T>C (p.Leu958=)
c.2865T>C (p.Leu955=)
5g.37010156T>GCA443905337NIPBLc.4491T>G (p.Leu1497=)
c.1-54422T>G (n.1-54422T>G)
c.3747T>G (p.Leu1249=)
c.4293T>G (p.Leu1431=)
c.4110T>G (p.Leu1370=)
c.3831T>G (p.Leu1277=)
c.2874T>G (p.Leu958=)
c.2865T>G (p.Leu955=)
5g.37010157A>CCA359527814NIPBLc.4492A>C (p.Ile1498Leu)
c.1-54421A>C (n.1-54421A>C)
c.3748A>C (p.Ile1250Leu)
c.4294A>C (p.Ile1432Leu)
c.4111A>C (p.Ile1371Leu)
c.3832A>C (p.Ile1278Leu)
c.2875A>C (p.Ile959Leu)
c.2866A>C (p.Ile956Leu)
5g.37010157A>GCA359527816NIPBLc.4492A>G (p.Ile1498Val)
c.1-54421A>G (n.1-54421A>G)
c.3748A>G (p.Ile1250Val)
c.4294A>G (p.Ile1432Val)
c.4111A>G (p.Ile1371Val)
c.3832A>G (p.Ile1278Val)
c.2875A>G (p.Ile959Val)
c.2866A>G (p.Ile956Val)
5g.37010157A>TCA359527818NIPBLc.4492A>T (p.Ile1498Phe)
c.1-54421A>T (n.1-54421A>T)
c.3748A>T (p.Ile1250Phe)
c.4294A>T (p.Ile1432Phe)
c.4111A>T (p.Ile1371Phe)
c.3832A>T (p.Ile1278Phe)
c.2875A>T (p.Ile959Phe)
c.2866A>T (p.Ile956Phe)
5g.37010158T>ACA359527820NIPBLc.4493T>A (p.Ile1498Asn)
c.1-54420T>A (n.1-54420T>A)
c.3749T>A (p.Ile1250Asn)
c.4295T>A (p.Ile1432Asn)
c.4112T>A (p.Ile1371Asn)
c.3833T>A (p.Ile1278Asn)
c.2876T>A (p.Ile959Asn)
c.2867T>A (p.Ile956Asn)
5g.37010158T>CCA117062939NIPBLc.4493T>C (p.Ile1498Thr)
c.1-54420T>C (n.1-54420T>C)
c.3749T>C (p.Ile1250Thr)
c.4295T>C (p.Ile1432Thr)
c.4112T>C (p.Ile1371Thr)
c.3833T>C (p.Ile1278Thr)
c.2876T>C (p.Ile959Thr)
c.2867T>C (p.Ile956Thr)
 ClinVar dbSNP gnomAD v3 gnomAD v4
5g.37010158T>GCA359527824NIPBLc.4493T>G (p.Ile1498Ser)
c.1-54420T>G (n.1-54420T>G)
c.3749T>G (p.Ile1250Ser)
c.4295T>G (p.Ile1432Ser)
c.4112T>G (p.Ile1371Ser)
c.3833T>G (p.Ile1278Ser)
c.2876T>G (p.Ile959Ser)
c.2867T>G (p.Ile956Ser)
5g.37010158T=CA1539609296NIPBLc.4493T= (p.Ile1498=)
c.1-54420T= (n.1-54420T=)
c.3749T= (p.Ile1250=)
c.4295T= (p.Ile1432=)
c.4112T= (p.Ile1371=)
c.3833T= (p.Ile1278=)
c.2876T= (p.Ile959=)
c.2867T= (p.Ile956=)
5g.37010159T>ACA443905338NIPBLc.4494T>A (p.Ile1498=)
c.1-54419T>A (n.1-54419T>A)
c.3750T>A (p.Ile1250=)
c.4296T>A (p.Ile1432=)
c.4113T>A (p.Ile1371=)
c.3834T>A (p.Ile1278=)
c.2877T>A (p.Ile959=)
c.2868T>A (p.Ile956=)
5g.37010159T>CCA443905339NIPBLc.4494T>C (p.Ile1498=)
c.1-54419T>C (n.1-54419T>C)
c.3750T>C (p.Ile1250=)
c.4296T>C (p.Ile1432=)
c.4113T>C (p.Ile1371=)
c.3834T>C (p.Ile1278=)
c.2877T>C (p.Ile959=)
c.2868T>C (p.Ile956=)
5g.37010159T>GCA359527827NIPBLc.4494T>G (p.Ile1498Met)
c.1-54419T>G (n.1-54419T>G)
c.3750T>G (p.Ile1250Met)
c.4296T>G (p.Ile1432Met)
c.4113T>G (p.Ile1371Met)
c.3834T>G (p.Ile1278Met)
c.2877T>G (p.Ile959Met)
c.2868T>G (p.Ile956Met)
5g.37010160C>ACA359527834NIPBLc.4495C>A (p.Gln1499Lys)
c.1-54418C>A (n.1-54418C>A)
c.3751C>A (p.Gln1251Lys)
c.4297C>A (p.Gln1433Lys)
c.4114C>A (p.Gln1372Lys)
c.3835C>A (p.Gln1279Lys)
c.2878C>A (p.Gln960Lys)
c.2869C>A (p.Gln957Lys)
5g.37010160C=CA1539609297NIPBLc.4495C= (p.Gln1499=)
c.1-54418C= (n.1-54418C=)
c.3751C= (p.Gln1251=)
c.4297C= (p.Gln1433=)
c.4114C= (p.Gln1372=)
c.3835C= (p.Gln1279=)
c.2878C= (p.Gln960=)
c.2869C= (p.Gln957=)
5g.37010160C>GCA359527831NIPBLc.4495C>G (p.Gln1499Glu)
c.1-54418C>G (n.1-54418C>G)
c.3751C>G (p.Gln1251Glu)
c.4297C>G (p.Gln1433Glu)
c.4114C>G (p.Gln1372Glu)
c.3835C>G (p.Gln1279Glu)
c.2878C>G (p.Gln960Glu)
c.2869C>G (p.Gln957Glu)
5g.37010160C>TCA277134NIPBLc.4495C>T (p.Gln1499Ter)
c.1-54418C>T (n.1-54418C>T)
c.3751C>T (p.Gln1251Ter)
c.4297C>T (p.Gln1433Ter)
c.4114C>T (p.Gln1372Ter)
c.3835C>T (p.Gln1279Ter)
c.2878C>T (p.Gln960Ter)
c.2869C>T (p.Gln957Ter)
 ClinVar dbSNP COSMIC COSMIC
5g.37010161A>CCA359527836NIPBLc.4496A>C (p.Gln1499Pro)
c.1-54417A>C (n.1-54417A>C)
c.3752A>C (p.Gln1251Pro)
c.4298A>C (p.Gln1433Pro)
c.4115A>C (p.Gln1372Pro)
c.3836A>C (p.Gln1279Pro)
c.2879A>C (p.Gln960Pro)
c.2870A>C (p.Gln957Pro)
5g.37010161A>GCA359527837NIPBLc.4496A>G (p.Gln1499Arg)
c.1-54417A>G (n.1-54417A>G)
c.3752A>G (p.Gln1251Arg)
c.4298A>G (p.Gln1433Arg)
c.4115A>G (p.Gln1372Arg)
c.3836A>G (p.Gln1279Arg)
c.2879A>G (p.Gln960Arg)
c.2870A>G (p.Gln957Arg)
5g.37010161A>TCA359527840NIPBLc.4496A>T (p.Gln1499Leu)
c.1-54417A>T (n.1-54417A>T)
c.3752A>T (p.Gln1251Leu)
c.4298A>T (p.Gln1433Leu)
c.4115A>T (p.Gln1372Leu)
c.3836A>T (p.Gln1279Leu)
c.2879A>T (p.Gln960Leu)
c.2870A>T (p.Gln957Leu)
5g.37010162G>ACA443905340NIPBLc.4497G>A (p.Gln1499=)
c.1-54416G>A (n.1-54416G>A)
c.3753G>A (p.Gln1251=)
c.4299G>A (p.Gln1433=)
c.4116G>A (p.Gln1372=)
c.3837G>A (p.Gln1279=)
c.2880G>A (p.Gln960=)
c.2871G>A (p.Gln957=)
 gnomAD v4
5g.37010162G>CCA359527842NIPBLc.4497G>C (p.Gln1499His)
c.1-54416G>C (n.1-54416G>C)
c.3753G>C (p.Gln1251His)
c.4299G>C (p.Gln1433His)
c.4116G>C (p.Gln1372His)
c.3837G>C (p.Gln1279His)
c.2880G>C (p.Gln960His)
c.2871G>C (p.Gln957His)
 gnomAD v4
5g.37010162G>TCA359527845NIPBLc.4497G>T (p.Gln1499His)
c.1-54416G>T (n.1-54416G>T)
c.3753G>T (p.Gln1251His)
c.4299G>T (p.Gln1433His)
c.4116G>T (p.Gln1372His)
c.3837G>T (p.Gln1279His)
c.2880G>T (p.Gln960His)
c.2871G>T (p.Gln957His)
5g.37010167_37010168dupCA2580613548NIPBLc.4502_4503dup (p.Val1502TrpfsTer?)
c.1-54411_1-54410dup (n.1-54411_1-54410dup)
c.3758_3759dup (p.Val1254TrpfsTer?)
c.4304_4305dup (p.Val1436TrpfsTer?)
c.4121_4122dup (p.Val1375TrpfsTer?)
c.3842_3843dup (p.Val1282TrpfsTer?)
c.2885_2886dup (p.Val963TrpfsTer?)
c.2876_2877dup (p.Val960TrpfsTer?)
 ClinVar dbSNP
5g.37010163T>ACA359527847NIPBLc.4498T>A (p.Cys1500Ser)
c.1-54415T>A (n.1-54415T>A)
c.3754T>A (p.Cys1252Ser)
c.4300T>A (p.Cys1434Ser)
c.4117T>A (p.Cys1373Ser)
c.3838T>A (p.Cys1280Ser)
c.2881T>A (p.Cys961Ser)
c.2872T>A (p.Cys958Ser)
5g.37010163T>CCA359527848NIPBLc.4498T>C (p.Cys1500Arg)
c.1-54415T>C (n.1-54415T>C)
c.3754T>C (p.Cys1252Arg)
c.4300T>C (p.Cys1434Arg)
c.4117T>C (p.Cys1373Arg)
c.3838T>C (p.Cys1280Arg)
c.2881T>C (p.Cys961Arg)
c.2872T>C (p.Cys958Arg)
 gnomAD v4
5g.37010163T>GCA359527850NIPBLc.4498T>G (p.Cys1500Gly)
c.1-54415T>G (n.1-54415T>G)
c.3754T>G (p.Cys1252Gly)
c.4300T>G (p.Cys1434Gly)
c.4117T>G (p.Cys1373Gly)
c.3838T>G (p.Cys1280Gly)
c.2881T>G (p.Cys961Gly)
c.2872T>G (p.Cys958Gly)
5g.37010164G>ACA359527853NIPBLc.4499G>A (p.Cys1500Tyr)
c.1-54414G>A (n.1-54414G>A)
c.3755G>A (p.Cys1252Tyr)
c.4301G>A (p.Cys1434Tyr)
c.4118G>A (p.Cys1373Tyr)
c.3839G>A (p.Cys1280Tyr)
c.2882G>A (p.Cys961Tyr)
c.2873G>A (p.Cys958Tyr)
5g.37010164G>CCA359527855NIPBLc.4499G>C (p.Cys1500Ser)
c.1-54414G>C (n.1-54414G>C)
c.3755G>C (p.Cys1252Ser)
c.4301G>C (p.Cys1434Ser)
c.4118G>C (p.Cys1373Ser)
c.3839G>C (p.Cys1280Ser)
c.2882G>C (p.Cys961Ser)
c.2873G>C (p.Cys958Ser)
5g.37010164G>TCA359527857NIPBLc.4499G>T (p.Cys1500Phe)
c.1-54414G>T (n.1-54414G>T)
c.3755G>T (p.Cys1252Phe)
c.4301G>T (p.Cys1434Phe)
c.4118G>T (p.Cys1373Phe)
c.3839G>T (p.Cys1280Phe)
c.2882G>T (p.Cys961Phe)
c.2873G>T (p.Cys958Phe)
5g.37010165T>ACA359527860NIPBLc.4500T>A (p.Cys1500Ter)
c.1-54413T>A (n.1-54413T>A)
c.3756T>A (p.Cys1252Ter)
c.4302T>A (p.Cys1434Ter)
c.4119T>A (p.Cys1373Ter)
c.3840T>A (p.Cys1280Ter)
c.2883T>A (p.Cys961Ter)
c.2874T>A (p.Cys958Ter)
5g.37010165T>CCA443905341NIPBLc.4500T>C (p.Cys1500=)
c.1-54413T>C (n.1-54413T>C)
c.3756T>C (p.Cys1252=)
c.4302T>C (p.Cys1434=)
c.4119T>C (p.Cys1373=)
c.3840T>C (p.Cys1280=)
c.2883T>C (p.Cys961=)
c.2874T>C (p.Cys958=)
5g.37010165T>GCA359527862NIPBLc.4500T>G (p.Cys1500Trp)
c.1-54413T>G (n.1-54413T>G)
c.3756T>G (p.Cys1252Trp)
c.4302T>G (p.Cys1434Trp)
c.4119T>G (p.Cys1373Trp)
c.3840T>G (p.Cys1280Trp)
c.2883T>G (p.Cys961Trp)
c.2874T>G (p.Cys958Trp)
5g.37010166G>ACA359527867NIPBLc.4501G>A (p.Val1501Met)
c.1-54412G>A (n.1-54412G>A)
c.3757G>A (p.Val1253Met)
c.4303G>A (p.Val1435Met)
c.4120G>A (p.Val1374Met)
c.3841G>A (p.Val1281Met)
c.2884G>A (p.Val962Met)
c.2875G>A (p.Val959Met)
 gnomAD v4
5g.37010166G>CCA359527870NIPBLc.4501G>C (p.Val1501Leu)
c.1-54412G>C (n.1-54412G>C)
c.3757G>C (p.Val1253Leu)
c.4303G>C (p.Val1435Leu)
c.4120G>C (p.Val1374Leu)
c.3841G>C (p.Val1281Leu)
c.2884G>C (p.Val962Leu)
c.2875G>C (p.Val959Leu)
5g.37010166G>TCA359527865NIPBLc.4501G>T (p.Val1501Leu)
c.1-54412G>T (n.1-54412G>T)
c.3757G>T (p.Val1253Leu)
c.4303G>T (p.Val1435Leu)
c.4120G>T (p.Val1374Leu)
c.3841G>T (p.Val1281Leu)
c.2884G>T (p.Val962Leu)
c.2875G>T (p.Val959Leu)
5g.37010167T>ACA359527873NIPBLc.4502T>A (p.Val1501Glu)
c.1-54411T>A (n.1-54411T>A)
c.3758T>A (p.Val1253Glu)
c.4304T>A (p.Val1435Glu)
c.4121T>A (p.Val1374Glu)
c.3842T>A (p.Val1281Glu)
c.2885T>A (p.Val962Glu)
c.2876T>A (p.Val959Glu)
5g.37010167T>CCA359527878NIPBLc.4502T>C (p.Val1501Ala)
c.1-54411T>C (n.1-54411T>C)
c.3758T>C (p.Val1253Ala)
c.4304T>C (p.Val1435Ala)
c.4121T>C (p.Val1374Ala)
c.3842T>C (p.Val1281Ala)
c.2885T>C (p.Val962Ala)
c.2876T>C (p.Val959Ala)
5g.37010167T>GCA359527876NIPBLc.4502T>G (p.Val1501Gly)
c.1-54411T>G (n.1-54411T>G)
c.3758T>G (p.Val1253Gly)
c.4304T>G (p.Val1435Gly)
c.4121T>G (p.Val1374Gly)
c.3842T>G (p.Val1281Gly)
c.2885T>G (p.Val962Gly)
c.2876T>G (p.Val959Gly)
5g.37010168G>ACA443905342NIPBLc.4503G>A (p.Val1501=)
c.1-54410G>A (n.1-54410G>A)
c.3759G>A (p.Val1253=)
c.4305G>A (p.Val1435=)
c.4122G>A (p.Val1374=)
c.3843G>A (p.Val1281=)
c.2886G>A (p.Val962=)
c.2877G>A (p.Val959=)
5g.37010168G>CCA443905343NIPBLc.4503G>C (p.Val1501=)
c.1-54410G>C (n.1-54410G>C)
c.3759G>C (p.Val1253=)
c.4305G>C (p.Val1435=)
c.4122G>C (p.Val1374=)
c.3843G>C (p.Val1281=)
c.2886G>C (p.Val962=)
c.2877G>C (p.Val959=)
5g.37010168G>TCA443905344NIPBLc.4503G>T (p.Val1501=)
c.1-54410G>T (n.1-54410G>T)
c.3759G>T (p.Val1253=)
c.4305G>T (p.Val1435=)
c.4122G>T (p.Val1374=)
c.3843G>T (p.Val1281=)
c.2886G>T (p.Val962=)
c.2877G>T (p.Val959=)
5g.37010169delCA2695204332NIPBLc.4504del (p.Val1502TyrfsTer?)
c.1-54409del (n.1-54409del)
c.3760del (p.Val1254TyrfsTer?)
c.4306del (p.Val1436TyrfsTer?)
c.4123del (p.Val1375TyrfsTer?)
c.3844del (p.Val1282TyrfsTer?)
c.2887del (p.Val963TyrfsTer?)
c.2878del (p.Val960TyrfsTer?)
5g.37010169G>ACA359527881NIPBLc.4504G>A (p.Val1502Ile)
c.1-54409G>A (n.1-54409G>A)
c.3760G>A (p.Val1254Ile)
c.4306G>A (p.Val1436Ile)
c.4123G>A (p.Val1375Ile)
c.3844G>A (p.Val1282Ile)
c.2887G>A (p.Val963Ile)
c.2878G>A (p.Val960Ile)
5g.37010169G>CCA359527883NIPBLc.4504G>C (p.Val1502Leu)
c.1-54409G>C (n.1-54409G>C)
c.3760G>C (p.Val1254Leu)
c.4306G>C (p.Val1436Leu)
c.4123G>C (p.Val1375Leu)
c.3844G>C (p.Val1282Leu)
c.2887G>C (p.Val963Leu)
c.2878G>C (p.Val960Leu)
5g.37010169G>TCA359527885NIPBLc.4504G>T (p.Val1502Leu)
c.1-54409G>T (n.1-54409G>T)
c.3760G>T (p.Val1254Leu)
c.4306G>T (p.Val1436Leu)
c.4123G>T (p.Val1375Leu)
c.3844G>T (p.Val1282Leu)
c.2887G>T (p.Val963Leu)
c.2878G>T (p.Val960Leu)
 gnomAD v4
5g.37010170T>ACA359527887NIPBLc.4505T>A (p.Val1502Glu)
c.1-54408T>A (n.1-54408T>A)
c.3761T>A (p.Val1254Glu)
c.4307T>A (p.Val1436Glu)
c.4124T>A (p.Val1375Glu)
c.3845T>A (p.Val1282Glu)
c.2888T>A (p.Val963Glu)
c.2879T>A (p.Val960Glu)
5g.37010170T>CCA359527888NIPBLc.4505T>C (p.Val1502Ala)
c.1-54408T>C (n.1-54408T>C)
c.3761T>C (p.Val1254Ala)
c.4307T>C (p.Val1436Ala)
c.4124T>C (p.Val1375Ala)
c.3845T>C (p.Val1282Ala)
c.2888T>C (p.Val963Ala)
c.2879T>C (p.Val960Ala)
 gnomAD v4
5g.37010170T>GCA359527890NIPBLc.4505T>G (p.Val1502Gly)
c.1-54408T>G (n.1-54408T>G)
c.3761T>G (p.Val1254Gly)
c.4307T>G (p.Val1436Gly)
c.4124T>G (p.Val1375Gly)
c.3845T>G (p.Val1282Gly)
c.2888T>G (p.Val963Gly)
c.2879T>G (p.Val960Gly)
5g.37010171A=CA1539609298NIPBLc.4506A= (p.Val1502=)
c.1-54407A= (n.1-54407A=)
c.3762A= (p.Val1254=)
c.4308A= (p.Val1436=)
c.4125A= (p.Val1375=)
c.3846A= (p.Val1282=)
c.2889A= (p.Val963=)
c.2880A= (p.Val960=)
5g.37010171A>CCA443905345NIPBLc.4506A>C (p.Val1502=)
c.1-54407A>C (n.1-54407A>C)
c.3762A>C (p.Val1254=)
c.4308A>C (p.Val1436=)
c.4125A>C (p.Val1375=)
c.3846A>C (p.Val1282=)
c.2889A>C (p.Val963=)
c.2880A>C (p.Val960=)
5g.37010171A>GCA443905346NIPBLc.4506A>G (p.Val1502=)
c.1-54407A>G (n.1-54407A>G)
c.3762A>G (p.Val1254=)
c.4308A>G (p.Val1436=)
c.4125A>G (p.Val1375=)
c.3846A>G (p.Val1282=)
c.2889A>G (p.Val963=)
c.2880A>G (p.Val960=)
 dbSNP
5g.37010171A>TCA443905347NIPBLc.4506A>T (p.Val1502=)
c.1-54407A>T (n.1-54407A>T)
c.3762A>T (p.Val1254=)
c.4308A>T (p.Val1436=)
c.4125A>T (p.Val1375=)
c.3846A>T (p.Val1282=)
c.2889A>T (p.Val963=)
c.2880A>T (p.Val960=)
5g.37010172C>ACA359527892NIPBLc.4507C>A (p.His1503Asn)
c.1-54406C>A (n.1-54406C>A)
c.3763C>A (p.His1255Asn)
c.4309C>A (p.His1437Asn)
c.4126C>A (p.His1376Asn)
c.3847C>A (p.His1283Asn)
c.2890C>A (p.His964Asn)
c.2881C>A (p.His961Asn)
5g.37010172C=CA1539609299NIPBLc.4507C= (p.His1503=)
c.1-54406C= (n.1-54406C=)
c.3763C= (p.His1255=)
c.4309C= (p.His1437=)
c.4126C= (p.His1376=)
c.3847C= (p.His1283=)
c.2890C= (p.His964=)
c.2881C= (p.His961=)
5g.37010172C>GCA359527894NIPBLc.4507C>G (p.His1503Asp)
c.1-54406C>G (n.1-54406C>G)
c.3763C>G (p.His1255Asp)
c.4309C>G (p.His1437Asp)
c.4126C>G (p.His1376Asp)
c.3847C>G (p.His1283Asp)
c.2890C>G (p.His964Asp)
c.2881C>G (p.His961Asp)
5g.37010172C>TCA359527897NIPBLc.4507C>T (p.His1503Tyr)
c.1-54406C>T (n.1-54406C>T)
c.3763C>T (p.His1255Tyr)
c.4309C>T (p.His1437Tyr)
c.4126C>T (p.His1376Tyr)
c.3847C>T (p.His1283Tyr)
c.2890C>T (p.His964Tyr)
c.2881C>T (p.His961Tyr)
 dbSNP gnomAD v4
5g.37010173A>CCA359527899NIPBLc.4508A>C (p.His1503Pro)
c.1-54405A>C (n.1-54405A>C)
c.3764A>C (p.His1255Pro)
c.4310A>C (p.His1437Pro)
c.4127A>C (p.His1376Pro)
c.3848A>C (p.His1283Pro)
c.2891A>C (p.His964Pro)
c.2882A>C (p.His961Pro)
5g.37010173A>GCA359527901NIPBLc.4508A>G (p.His1503Arg)
c.1-54405A>G (n.1-54405A>G)
c.3764A>G (p.His1255Arg)
c.4310A>G (p.His1437Arg)
c.4127A>G (p.His1376Arg)
c.3848A>G (p.His1283Arg)
c.2891A>G (p.His964Arg)
c.2882A>G (p.His961Arg)
 ClinVar
5g.37010173A>TCA359527904NIPBLc.4508A>T (p.His1503Leu)
c.1-54405A>T (n.1-54405A>T)
c.3764A>T (p.His1255Leu)
c.4310A>T (p.His1437Leu)
c.4127A>T (p.His1376Leu)
c.3848A>T (p.His1283Leu)
c.2891A>T (p.His964Leu)
c.2882A>T (p.His961Leu)
5g.37010174C>ACA359527907NIPBLc.4509C>A (p.His1503Gln)
c.1-54404C>A (n.1-54404C>A)
c.3765C>A (p.His1255Gln)
c.4311C>A (p.His1437Gln)
c.4128C>A (p.His1376Gln)
c.3849C>A (p.His1283Gln)
c.2892C>A (p.His964Gln)
c.2883C>A (p.His961Gln)
5g.37010174C=CA1539609300NIPBLc.4509C= (p.His1503=)
c.1-54404C= (n.1-54404C=)
c.3765C= (p.His1255=)
c.4311C= (p.His1437=)
c.4128C= (p.His1376=)
c.3849C= (p.His1283=)
c.2892C= (p.His964=)
c.2883C= (p.His961=)
5g.37010174C>GCA359527910NIPBLc.4509C>G (p.His1503Gln)
c.1-54404C>G (n.1-54404C>G)
c.3765C>G (p.His1255Gln)
c.4311C>G (p.His1437Gln)
c.4128C>G (p.His1376Gln)
c.3849C>G (p.His1283Gln)
c.2892C>G (p.His964Gln)
c.2883C>G (p.His961Gln)
5g.37010174C>TCA443905348NIPBLc.4509C>T (p.His1503=)
c.1-54404C>T (n.1-54404C>T)
c.3765C>T (p.His1255=)
c.4311C>T (p.His1437=)
c.4128C>T (p.His1376=)
c.3849C>T (p.His1283=)
c.2892C>T (p.His964=)
c.2883C>T (p.His961=)
 dbSNP gnomAD v2 gnomAD v4
5g.37010175T>ACA359527913NIPBLc.4510T>A (p.Leu1504Ile)
c.1-54403T>A (n.1-54403T>A)
c.3766T>A (p.Leu1256Ile)
c.4312T>A (p.Leu1438Ile)
c.4129T>A (p.Leu1377Ile)
c.3850T>A (p.Leu1284Ile)
c.2893T>A (p.Leu965Ile)
c.2884T>A (p.Leu962Ile)
5g.37010175T>CCA443905349NIPBLc.4510T>C (p.Leu1504=)
c.1-54403T>C (n.1-54403T>C)
c.3766T>C (p.Leu1256=)
c.4312T>C (p.Leu1438=)
c.4129T>C (p.Leu1377=)
c.3850T>C (p.Leu1284=)
c.2893T>C (p.Leu965=)
c.2884T>C (p.Leu962=)
 dbSNP
5g.37010175T>GCA359527915NIPBLc.4510T>G (p.Leu1504Val)
c.1-54403T>G (n.1-54403T>G)
c.3766T>G (p.Leu1256Val)
c.4312T>G (p.Leu1438Val)
c.4129T>G (p.Leu1377Val)
c.3850T>G (p.Leu1284Val)
c.2893T>G (p.Leu965Val)
c.2884T>G (p.Leu962Val)
5g.37010175T=CA1539609301NIPBLc.4510T= (p.Leu1504=)
c.1-54403T= (n.1-54403T=)
c.3766T= (p.Leu1256=)
c.4312T= (p.Leu1438=)
c.4129T= (p.Leu1377=)
c.3850T= (p.Leu1284=)
c.2893T= (p.Leu965=)
c.2884T= (p.Leu962=)
5g.37010176T>ACA267537NIPBLc.4511T>A (p.Leu1504Ter)
c.1-54402T>A (n.1-54402T>A)
c.3767T>A (p.Leu1256Ter)
c.4313T>A (p.Leu1438Ter)
c.4130T>A (p.Leu1377Ter)
c.3851T>A (p.Leu1284Ter)
c.2894T>A (p.Leu965Ter)
c.2885T>A (p.Leu962Ter)
 ClinVar dbSNP
5g.37010176T>CCA359527918NIPBLc.4511T>C (p.Leu1504Ser)
c.1-54402T>C (n.1-54402T>C)
c.3767T>C (p.Leu1256Ser)
c.4313T>C (p.Leu1438Ser)
c.4130T>C (p.Leu1377Ser)
c.3851T>C (p.Leu1284Ser)
c.2894T>C (p.Leu965Ser)
c.2885T>C (p.Leu962Ser)
 gnomAD v4
5g.37010176T>GCA359527921NIPBLc.4511T>G (p.Leu1504Ter)
c.1-54402T>G (n.1-54402T>G)
c.3767T>G (p.Leu1256Ter)
c.4313T>G (p.Leu1438Ter)
c.4130T>G (p.Leu1377Ter)
c.3851T>G (p.Leu1284Ter)
c.2894T>G (p.Leu965Ter)
c.2885T>G (p.Leu962Ter)
5g.37010176T=CA1539609302NIPBLc.4511T= (p.Leu1504=)
c.1-54402T= (n.1-54402T=)
c.3767T= (p.Leu1256=)
c.4313T= (p.Leu1438=)
c.4130T= (p.Leu1377=)
c.3851T= (p.Leu1284=)
c.2894T= (p.Leu965=)
c.2885T= (p.Leu962=)
5g.37010177A>CCA359527924NIPBLc.4512A>C (p.Leu1504Phe)
c.1-54401A>C (n.1-54401A>C)
c.3768A>C (p.Leu1256Phe)
c.4314A>C (p.Leu1438Phe)
c.4131A>C (p.Leu1377Phe)
c.3852A>C (p.Leu1284Phe)
c.2895A>C (p.Leu965Phe)
c.2886A>C (p.Leu962Phe)
5g.37010177A>GCA443905350NIPBLc.4512A>G (p.Leu1504=)
c.1-54401A>G (n.1-54401A>G)
c.3768A>G (p.Leu1256=)
c.4314A>G (p.Leu1438=)
c.4131A>G (p.Leu1377=)
c.3852A>G (p.Leu1284=)
c.2895A>G (p.Leu965=)
c.2886A>G (p.Leu962=)
 gnomAD v4
5g.37010177A>TCA359527926NIPBLc.4512A>T (p.Leu1504Phe)
c.1-54401A>T (n.1-54401A>T)
c.3768A>T (p.Leu1256Phe)
c.4314A>T (p.Leu1438Phe)
c.4131A>T (p.Leu1377Phe)
c.3852A>T (p.Leu1284Phe)
c.2895A>T (p.Leu965Phe)
c.2886A>T (p.Leu962Phe)
5g.37010177dupCA658796511NIPBLc.4512dup (p.Pro1505ThrfsTer8)
c.1-54401dup (n.1-54401dup)
c.3768dup (p.Pro1257ThrfsTer8)
c.4314dup (p.Pro1439ThrfsTer8)
c.4131dup (p.Pro1378ThrfsTer8)
c.3852dup (p.Pro1285ThrfsTer8)
c.2895dup (p.Pro966ThrfsTer8)
c.2886dup (p.Pro963ThrfsTer8)
 ClinVar dbSNP
5g.37010178C>ACA359527930NIPBLc.4513C>A (p.Pro1505Thr)
c.1-54400C>A (n.1-54400C>A)
c.3769C>A (p.Pro1257Thr)
c.4315C>A (p.Pro1439Thr)
c.4132C>A (p.Pro1378Thr)
c.3853C>A (p.Pro1285Thr)
c.2896C>A (p.Pro966Thr)
c.2887C>A (p.Pro963Thr)
5g.37010178C=CA1539609304NIPBLc.4513C= (p.Pro1505=)
c.1-54400C= (n.1-54400C=)
c.3769C= (p.Pro1257=)
c.4315C= (p.Pro1439=)
c.4132C= (p.Pro1378=)
c.3853C= (p.Pro1285=)
c.2896C= (p.Pro966=)
c.2887C= (p.Pro963=)
5g.37010178C>GCA3236567NIPBLc.4513C>G (p.Pro1505Ala)
c.1-54400C>G (n.1-54400C>G)
c.3769C>G (p.Pro1257Ala)
c.4315C>G (p.Pro1439Ala)
c.4132C>G (p.Pro1378Ala)
c.3853C>G (p.Pro1285Ala)
c.2896C>G (p.Pro966Ala)
c.2887C>G (p.Pro963Ala)
 ClinVar dbSNP ExAC gnomAD v2
5g.37010178C>TCA359527935NIPBLc.4513C>T (p.Pro1505Ser)
c.1-54400C>T (n.1-54400C>T)
c.3769C>T (p.Pro1257Ser)
c.4315C>T (p.Pro1439Ser)
c.4132C>T (p.Pro1378Ser)
c.3853C>T (p.Pro1285Ser)
c.2896C>T (p.Pro966Ser)
c.2887C>T (p.Pro963Ser)
5g.37010179C>ACA359527939NIPBLc.4514C>A (p.Pro1505Gln)
c.1-54399C>A (n.1-54399C>A)
c.3770C>A (p.Pro1257Gln)
c.4316C>A (p.Pro1439Gln)
c.4133C>A (p.Pro1378Gln)
c.3854C>A (p.Pro1285Gln)
c.2897C>A (p.Pro966Gln)
c.2888C>A (p.Pro963Gln)
5g.37010179C=CA1539609306NIPBLc.4514C= (p.Pro1505=)
c.1-54399C= (n.1-54399C=)
c.3770C= (p.Pro1257=)
c.4316C= (p.Pro1439=)
c.4133C= (p.Pro1378=)
c.3854C= (p.Pro1285=)
c.2897C= (p.Pro966=)
c.2888C= (p.Pro963=)
5g.37010179C>GCA117062967NIPBLc.4514C>G (p.Pro1505Arg)
c.1-54399C>G (n.1-54399C>G)
c.3770C>G (p.Pro1257Arg)
c.4316C>G (p.Pro1439Arg)
c.4133C>G (p.Pro1378Arg)
c.3854C>G (p.Pro1285Arg)
c.2897C>G (p.Pro966Arg)
c.2888C>G (p.Pro963Arg)
 dbSNP gnomAD v4
5g.37010179C>TCA359527937NIPBLc.4514C>T (p.Pro1505Leu)
c.1-54399C>T (n.1-54399C>T)
c.3770C>T (p.Pro1257Leu)
c.4316C>T (p.Pro1439Leu)
c.4133C>T (p.Pro1378Leu)
c.3854C>T (p.Pro1285Leu)
c.2897C>T (p.Pro966Leu)
c.2888C>T (p.Pro963Leu)
 gnomAD v4
5g.37010180A=CA1539609308NIPBLc.4515A= (p.Pro1505=)
c.1-54398A= (n.1-54398A=)
c.3771A= (p.Pro1257=)
c.4317A= (p.Pro1439=)
c.4134A= (p.Pro1378=)
c.3855A= (p.Pro1285=)
c.2898A= (p.Pro966=)
c.2889A= (p.Pro963=)
5g.37010180A>CCA443905351NIPBLc.4515A>C (p.Pro1505=)
c.1-54398A>C (n.1-54398A>C)
c.3771A>C (p.Pro1257=)
c.4317A>C (p.Pro1439=)
c.4134A>C (p.Pro1378=)
c.3855A>C (p.Pro1285=)
c.2898A>C (p.Pro966=)
c.2889A>C (p.Pro963=)
5g.37010180A>GCA443905353NIPBLc.4515A>G (p.Pro1505=)
c.1-54398A>G (n.1-54398A>G)
c.3771A>G (p.Pro1257=)
c.4317A>G (p.Pro1439=)
c.4134A>G (p.Pro1378=)
c.3855A>G (p.Pro1285=)
c.2898A>G (p.Pro966=)
c.2889A>G (p.Pro963=)
 dbSNP gnomAD v4
5g.37010180A>TCA443905352NIPBLc.4515A>T (p.Pro1505=)
c.1-54398A>T (n.1-54398A>T)
c.3771A>T (p.Pro1257=)
c.4317A>T (p.Pro1439=)
c.4134A>T (p.Pro1378=)
c.3855A>T (p.Pro1285=)
c.2898A>T (p.Pro966=)
c.2889A>T (p.Pro963=)
5g.37010181T>ACA359527943NIPBLc.4516T>A (p.Ser1506Thr)
c.1-54397T>A (n.1-54397T>A)
c.3772T>A (p.Ser1258Thr)
c.4318T>A (p.Ser1440Thr)
c.4135T>A (p.Ser1379Thr)
c.3856T>A (p.Ser1286Thr)
c.2899T>A (p.Ser967Thr)
c.2890T>A (p.Ser964Thr)
5g.37010181T>CCA117062971NIPBLc.4516T>C (p.Ser1506Pro)
c.1-54397T>C (n.1-54397T>C)
c.3772T>C (p.Ser1258Pro)
c.4318T>C (p.Ser1440Pro)
c.4135T>C (p.Ser1379Pro)
c.3856T>C (p.Ser1286Pro)
c.2899T>C (p.Ser967Pro)
c.2890T>C (p.Ser964Pro)
 ClinVar dbSNP gnomAD v3 gnomAD v4
5g.37010181T>GCA359527947NIPBLc.4516T>G (p.Ser1506Ala)
c.1-54397T>G (n.1-54397T>G)
c.3772T>G (p.Ser1258Ala)
c.4318T>G (p.Ser1440Ala)
c.4135T>G (p.Ser1379Ala)
c.3856T>G (p.Ser1286Ala)
c.2899T>G (p.Ser967Ala)
c.2890T>G (p.Ser964Ala)
5g.37010181T=CA1539609310NIPBLc.4516T= (p.Ser1506=)
c.1-54397T= (n.1-54397T=)
c.3772T= (p.Ser1258=)
c.4318T= (p.Ser1440=)
c.4135T= (p.Ser1379=)
c.3856T= (p.Ser1286=)
c.2899T= (p.Ser967=)
c.2890T= (p.Ser964=)
5g.37010182C>ACA359527950NIPBLc.4517C>A (p.Ser1506Ter)
c.1-54396C>A (n.1-54396C>A)
c.3773C>A (p.Ser1258Ter)
c.4319C>A (p.Ser1440Ter)
c.4136C>A (p.Ser1379Ter)
c.3857C>A (p.Ser1286Ter)
c.2900C>A (p.Ser967Ter)
c.2891C>A (p.Ser964Ter)
5g.37010182C>GCA359527952NIPBLc.4517C>G (p.Ser1506Ter)
c.1-54396C>G (n.1-54396C>G)
c.3773C>G (p.Ser1258Ter)
c.4319C>G (p.Ser1440Ter)
c.4136C>G (p.Ser1379Ter)
c.3857C>G (p.Ser1286Ter)
c.2900C>G (p.Ser967Ter)
c.2891C>G (p.Ser964Ter)
5g.37010182C>TCA359527954NIPBLc.4517C>T (p.Ser1506Leu)
c.1-54396C>T (n.1-54396C>T)
c.3773C>T (p.Ser1258Leu)
c.4319C>T (p.Ser1440Leu)
c.4136C>T (p.Ser1379Leu)
c.3857C>T (p.Ser1286Leu)
c.2900C>T (p.Ser967Leu)
c.2891C>T (p.Ser964Leu)
 gnomAD v4
5g.37010183A=CA1539609311NIPBLc.4518A= (p.Ser1506=)
c.1-54395A= (n.1-54395A=)
c.3774A= (p.Ser1258=)
c.4320A= (p.Ser1440=)
c.4137A= (p.Ser1379=)
c.3858A= (p.Ser1286=)
c.2901A= (p.Ser967=)
c.2892A= (p.Ser964=)
5g.37010183A>CCA443905354NIPBLc.4518A>C (p.Ser1506=)
c.1-54395A>C (n.1-54395A>C)
c.3774A>C (p.Ser1258=)
c.4320A>C (p.Ser1440=)
c.4137A>C (p.Ser1379=)
c.3858A>C (p.Ser1286=)
c.2901A>C (p.Ser967=)
c.2892A>C (p.Ser964=)
5g.37010183A>GCA443905355NIPBLc.4518A>G (p.Ser1506=)
c.1-54395A>G (n.1-54395A>G)
c.3774A>G (p.Ser1258=)
c.4320A>G (p.Ser1440=)
c.4137A>G (p.Ser1379=)
c.3858A>G (p.Ser1286=)
c.2901A>G (p.Ser967=)
c.2892A>G (p.Ser964=)
 dbSNP
5g.37010183A>TCA443905356NIPBLc.4518A>T (p.Ser1506=)
c.1-54395A>T (n.1-54395A>T)
c.3774A>T (p.Ser1258=)
c.4320A>T (p.Ser1440=)
c.4137A>T (p.Ser1379=)
c.3858A>T (p.Ser1286=)
c.2901A>T (p.Ser967=)
c.2892A>T (p.Ser964=)
5g.37010184T>ACA359527956NIPBLc.4519T>A (p.Ser1507Thr)
c.1-54394T>A (n.1-54394T>A)
c.3775T>A (p.Ser1259Thr)
c.4321T>A (p.Ser1441Thr)
c.4138T>A (p.Ser1380Thr)
c.3859T>A (p.Ser1287Thr)
c.2902T>A (p.Ser968Thr)
c.2893T>A (p.Ser965Thr)
5g.37010184T>CCA359527958NIPBLc.4519T>C (p.Ser1507Pro)
c.1-54394T>C (n.1-54394T>C)
c.3775T>C (p.Ser1259Pro)
c.4321T>C (p.Ser1441Pro)
c.4138T>C (p.Ser1380Pro)
c.3859T>C (p.Ser1287Pro)
c.2902T>C (p.Ser968Pro)
c.2893T>C (p.Ser965Pro)
 dbSNP
5g.37010184T>GCA359527961NIPBLc.4519T>G (p.Ser1507Ala)
c.1-54394T>G (n.1-54394T>G)
c.3775T>G (p.Ser1259Ala)
c.4321T>G (p.Ser1441Ala)
c.4138T>G (p.Ser1380Ala)
c.3859T>G (p.Ser1287Ala)
c.2902T>G (p.Ser968Ala)
c.2893T>G (p.Ser965Ala)
5g.37010184T=CA1539609312NIPBLc.4519T= (p.Ser1507=)
c.1-54394T= (n.1-54394T=)
c.3775T= (p.Ser1259=)
c.4321T= (p.Ser1441=)
c.4138T= (p.Ser1380=)
c.3859T= (p.Ser1287=)
c.2902T= (p.Ser968=)
c.2893T= (p.Ser965=)
5g.37010185C>ACA359527964NIPBLc.4520C>A (p.Ser1507Ter)
c.1-54393C>A (n.1-54393C>A)
c.3776C>A (p.Ser1259Ter)
c.4322C>A (p.Ser1441Ter)
c.4139C>A (p.Ser1380Ter)
c.3860C>A (p.Ser1287Ter)
c.2903C>A (p.Ser968Ter)
c.2894C>A (p.Ser965Ter)
5g.37010185C=CA1539609313NIPBLc.4520C= (p.Ser1507=)
c.1-54393C= (n.1-54393C=)
c.3776C= (p.Ser1259=)
c.4322C= (p.Ser1441=)
c.4139C= (p.Ser1380=)
c.3860C= (p.Ser1287=)
c.2903C= (p.Ser968=)
c.2894C= (p.Ser965=)
5g.37010185C>GCA359527966NIPBLc.4520C>G (p.Ser1507Ter)
c.1-54393C>G (n.1-54393C>G)
c.3776C>G (p.Ser1259Ter)
c.4322C>G (p.Ser1441Ter)
c.4139C>G (p.Ser1380Ter)
c.3860C>G (p.Ser1287Ter)
c.2903C>G (p.Ser968Ter)
c.2894C>G (p.Ser965Ter)
5g.37010185C>TCA242104NIPBLc.4520C>T (p.Ser1507Leu)
c.1-54393C>T (n.1-54393C>T)
c.3776C>T (p.Ser1259Leu)
c.4322C>T (p.Ser1441Leu)
c.4139C>T (p.Ser1380Leu)
c.3860C>T (p.Ser1287Leu)
c.2903C>T (p.Ser968Leu)
c.2894C>T (p.Ser965Leu)
 ClinVar dbSNP
5g.37010185_37010187delinsCAGCA1539609314NIPBLc.4520_4522delinsCAG (p.Ser1507=)
c.1-54393_1-54391delinsCAG (n.1-54393_1-54391delinsCAG)
c.3776_3778delinsCAG (p.Ser1259=)
c.4322_4324delinsCAG (p.Ser1441=)
c.4139_4141delinsCAG (p.Ser1380=)
c.3860_3862delinsCAG (p.Ser1287=)
c.2903_2905delinsCAG (p.Ser968=)
c.2894_2896delinsCAG (p.Ser965=)
5g.37010186A>CCA443905357NIPBLc.4521A>C (p.Ser1507=)
c.1-54392A>C (n.1-54392A>C)
c.3777A>C (p.Ser1259=)
c.4323A>C (p.Ser1441=)
c.4140A>C (p.Ser1380=)
c.3861A>C (p.Ser1287=)
c.2904A>C (p.Ser968=)
c.2895A>C (p.Ser965=)
5g.37010186A>GCA443905358NIPBLc.4521A>G (p.Ser1507=)
c.1-54392A>G (n.1-54392A>G)
c.3777A>G (p.Ser1259=)
c.4323A>G (p.Ser1441=)
c.4140A>G (p.Ser1380=)
c.3861A>G (p.Ser1287=)
c.2904A>G (p.Ser968=)
c.2895A>G (p.Ser965=)
 gnomAD v4
5g.37010186A>TCA443905359NIPBLc.4521A>T (p.Ser1507=)
c.1-54392A>T (n.1-54392A>T)
c.3777A>T (p.Ser1259=)
c.4323A>T (p.Ser1441=)
c.4140A>T (p.Ser1380=)
c.3861A>T (p.Ser1287=)
c.2904A>T (p.Ser968=)
c.2895A>T (p.Ser965=)
5g.37010189_37010190delCA1075100420NIPBLc.4524_4525del (p.Lys1509GlyfsTer3)
c.1-54389_1-54388del (n.1-54389_1-54388del)
c.3780_3781del (p.Lys1261GlyfsTer3)
c.4326_4327del (p.Lys1443GlyfsTer3)
c.4143_4144del (p.Lys1382GlyfsTer3)
c.3864_3865del (p.Lys1289GlyfsTer3)
c.2907_2908del (p.Lys970GlyfsTer3)
c.2898_2899del (p.Lys967GlyfsTer3)
 dbSNP gnomAD v3 gnomAD v4
5g.37010187G>ACA359527974NIPBLc.4522G>A (p.Glu1508Lys)
c.1-54391G>A (n.1-54391G>A)
c.3778G>A (p.Glu1260Lys)
c.4324G>A (p.Glu1442Lys)
c.4141G>A (p.Glu1381Lys)
c.3862G>A (p.Glu1288Lys)
c.2905G>A (p.Glu969Lys)
c.2896G>A (p.Glu966Lys)
5g.37010187G>CCA359527970NIPBLc.4522G>C (p.Glu1508Gln)
c.1-54391G>C (n.1-54391G>C)
c.3778G>C (p.Glu1260Gln)
c.4324G>C (p.Glu1442Gln)
c.4141G>C (p.Glu1381Gln)
c.3862G>C (p.Glu1288Gln)
c.2905G>C (p.Glu969Gln)
c.2896G>C (p.Glu966Gln)
5g.37010187G>TCA359527972NIPBLc.4522G>T (p.Glu1508Ter)
c.1-54391G>T (n.1-54391G>T)
c.3778G>T (p.Glu1260Ter)
c.4324G>T (p.Glu1442Ter)
c.4141G>T (p.Glu1381Ter)
c.3862G>T (p.Glu1288Ter)
c.2905G>T (p.Glu969Ter)
c.2896G>T (p.Glu966Ter)
5g.37010188A=CA1539609315NIPBLc.4523A= (p.Glu1508=)
c.1-54390A= (n.1-54390A=)
c.3779A= (p.Glu1260=)
c.4325A= (p.Glu1442=)
c.4142A= (p.Glu1381=)
c.3863A= (p.Glu1288=)
c.2906A= (p.Glu969=)
c.2897A= (p.Glu966=)
5g.37010188A>CCA359527977NIPBLc.4523A>C (p.Glu1508Ala)
c.1-54390A>C (n.1-54390A>C)
c.3779A>C (p.Glu1260Ala)
c.4325A>C (p.Glu1442Ala)
c.4142A>C (p.Glu1381Ala)
c.3863A>C (p.Glu1288Ala)
c.2906A>C (p.Glu969Ala)
c.2897A>C (p.Glu966Ala)
5g.37010188A>GCA359527979NIPBLc.4523A>G (p.Glu1508Gly)
c.1-54390A>G (n.1-54390A>G)
c.3779A>G (p.Glu1260Gly)
c.4325A>G (p.Glu1442Gly)
c.4142A>G (p.Glu1381Gly)
c.3863A>G (p.Glu1288Gly)
c.2906A>G (p.Glu969Gly)
c.2897A>G (p.Glu966Gly)
 dbSNP
5g.37010188A>TCA359527981NIPBLc.4523A>T (p.Glu1508Val)
c.1-54390A>T (n.1-54390A>T)
c.3779A>T (p.Glu1260Val)
c.4325A>T (p.Glu1442Val)
c.4142A>T (p.Glu1381Val)
c.3863A>T (p.Glu1288Val)
c.2906A>T (p.Glu969Val)
c.2897A>T (p.Glu966Val)
 COSMIC COSMIC
5g.37010190_37010192delCA2673554229NIPBLc.4525_4527del (p.Lys1509del)
c.1-54388_1-54386del (n.1-54388_1-54386del)
c.3781_3783del (p.Lys1261del)
c.4327_4329del (p.Lys1443del)
c.4144_4146del (p.Lys1382del)
c.3865_3867del (p.Lys1289del)
c.2908_2910del (p.Lys970del)
c.2899_2901del (p.Lys967del)
 gnomAD v4
5g.37010189G>ACA443905360NIPBLc.4524G>A (p.Glu1508=)
c.1-54389G>A (n.1-54389G>A)
c.3780G>A (p.Glu1260=)
c.4326G>A (p.Glu1442=)
c.4143G>A (p.Glu1381=)
c.3864G>A (p.Glu1288=)
c.2907G>A (p.Glu969=)
c.2898G>A (p.Glu966=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.37010189G>CCA359527983NIPBLc.4524G>C (p.Glu1508Asp)
c.1-54389G>C (n.1-54389G>C)
c.3780G>C (p.Glu1260Asp)
c.4326G>C (p.Glu1442Asp)
c.4143G>C (p.Glu1381Asp)
c.3864G>C (p.Glu1288Asp)
c.2907G>C (p.Glu969Asp)
c.2898G>C (p.Glu966Asp)
5g.37010189G=CA1539609316NIPBLc.4524G= (p.Glu1508=)
c.1-54389G= (n.1-54389G=)
c.3780G= (p.Glu1260=)
c.4326G= (p.Glu1442=)
c.4143G= (p.Glu1381=)
c.3864G= (p.Glu1288=)
c.2907G= (p.Glu969=)
c.2898G= (p.Glu966=)
5g.37010189G>TCA359527985NIPBLc.4524G>T (p.Glu1508Asp)
c.1-54389G>T (n.1-54389G>T)
c.3780G>T (p.Glu1260Asp)
c.4326G>T (p.Glu1442Asp)
c.4143G>T (p.Glu1381Asp)
c.3864G>T (p.Glu1288Asp)
c.2907G>T (p.Glu969Asp)
c.2898G>T (p.Glu966Asp)
5g.37010190A>CCA359527988NIPBLc.4525A>C (p.Lys1509Gln)
c.1-54388A>C (n.1-54388A>C)
c.3781A>C (p.Lys1261Gln)
c.4327A>C (p.Lys1443Gln)
c.4144A>C (p.Lys1382Gln)
c.3865A>C (p.Lys1289Gln)
c.2908A>C (p.Lys970Gln)
c.2899A>C (p.Lys967Gln)
5g.37010190A>GCA359527989NIPBLc.4525A>G (p.Lys1509Glu)
c.1-54388A>G (n.1-54388A>G)
c.3781A>G (p.Lys1261Glu)
c.4327A>G (p.Lys1443Glu)
c.4144A>G (p.Lys1382Glu)
c.3865A>G (p.Lys1289Glu)
c.2908A>G (p.Lys970Glu)
c.2899A>G (p.Lys967Glu)
5g.37010190A>TCA359527992NIPBLc.4525A>T (p.Lys1509Ter)
c.1-54388A>T (n.1-54388A>T)
c.3781A>T (p.Lys1261Ter)
c.4327A>T (p.Lys1443Ter)
c.4144A>T (p.Lys1382Ter)
c.3865A>T (p.Lys1289Ter)
c.2908A>T (p.Lys970Ter)
c.2899A>T (p.Lys967Ter)
5g.37010191A>CCA359527995NIPBLc.4526A>C (p.Lys1509Thr)
c.1-54387A>C (n.1-54387A>C)
c.3782A>C (p.Lys1261Thr)
c.4328A>C (p.Lys1443Thr)
c.4145A>C (p.Lys1382Thr)
c.3866A>C (p.Lys1289Thr)
c.2909A>C (p.Lys970Thr)
c.2900A>C (p.Lys967Thr)
5g.37010191A>GCA359527997NIPBLc.4526A>G (p.Lys1509Arg)
c.1-54387A>G (n.1-54387A>G)
c.3782A>G (p.Lys1261Arg)
c.4328A>G (p.Lys1443Arg)
c.4145A>G (p.Lys1382Arg)
c.3866A>G (p.Lys1289Arg)
c.2909A>G (p.Lys970Arg)
c.2900A>G (p.Lys967Arg)
 gnomAD v4
5g.37010191A>TCA359527999NIPBLc.4526A>T (p.Lys1509Met)
c.1-54387A>T (n.1-54387A>T)
c.3782A>T (p.Lys1261Met)
c.4328A>T (p.Lys1443Met)
c.4145A>T (p.Lys1382Met)
c.3866A>T (p.Lys1289Met)
c.2909A>T (p.Lys970Met)
c.2900A>T (p.Lys967Met)
5g.37010192G>ACA443905361NIPBLc.4527G>A (p.Lys1509=)
c.1-54386G>A (n.1-54386G>A)
c.3783G>A (p.Lys1261=)
c.4329G>A (p.Lys1443=)
c.4146G>A (p.Lys1382=)
c.3867G>A (p.Lys1289=)
c.2910G>A (p.Lys970=)
c.2901G>A (p.Lys967=)
5g.37010192G>CCA359528001NIPBLc.4527G>C (p.Lys1509Asn)
c.1-54386G>C (n.1-54386G>C)
c.3783G>C (p.Lys1261Asn)
c.4329G>C (p.Lys1443Asn)
c.4146G>C (p.Lys1382Asn)
c.3867G>C (p.Lys1289Asn)
c.2910G>C (p.Lys970Asn)
c.2901G>C (p.Lys967Asn)
5g.37010192G>TCA359528003NIPBLc.4527G>T (p.Lys1509Asn)
c.1-54386G>T (n.1-54386G>T)
c.3783G>T (p.Lys1261Asn)
c.4329G>T (p.Lys1443Asn)
c.4146G>T (p.Lys1382Asn)
c.3867G>T (p.Lys1289Asn)
c.2910G>T (p.Lys970Asn)
c.2901G>T (p.Lys967Asn)
5g.37010192_37010199delinsGGACTCTACA1539609317NIPBLc.4527_4534delinsGGACTCTA (p.Lys1509=)
c.1-54386_1-54379delinsGGACTCTA (n.1-54386_1-54379delinsGGACTCTA)
c.3783_3790delinsGGACTCTA (p.Lys1261=)
c.4329_4336delinsGGACTCTA (p.Lys1443=)
c.4146_4153delinsGGACTCTA (p.Lys1382=)
c.3867_3874delinsGGACTCTA (p.Lys1289=)
c.2910_2917delinsGGACTCTA (p.Lys970=)
c.2901_2908delinsGGACTCTA (p.Lys967=)
5g.37010193G>ACA359528009NIPBLc.4528G>A (p.Asp1510Asn)
c.1-54385G>A (n.1-54385G>A)
c.3784G>A (p.Asp1262Asn)
c.4330G>A (p.Asp1444Asn)
c.4147G>A (p.Asp1383Asn)
c.3868G>A (p.Asp1290Asn)
c.2911G>A (p.Asp971Asn)
c.2902G>A (p.Asp968Asn)
5g.37010193G>CCA359528011NIPBLc.4528G>C (p.Asp1510His)
c.1-54385G>C (n.1-54385G>C)
c.3784G>C (p.Asp1262His)
c.4330G>C (p.Asp1444His)
c.4147G>C (p.Asp1383His)
c.3868G>C (p.Asp1290His)
c.2911G>C (p.Asp971His)
c.2902G>C (p.Asp968His)
5g.37010193G=CA1539609320NIPBLc.4528G= (p.Asp1510=)
c.1-54385G= (n.1-54385G=)
c.3784G= (p.Asp1262=)
c.4330G= (p.Asp1444=)
c.4147G= (p.Asp1383=)
c.3868G= (p.Asp1290=)
c.2911G= (p.Asp971=)
c.2902G= (p.Asp968=)
5g.37010193G>TCA359528007NIPBLc.4528G>T (p.Asp1510Tyr)
c.1-54385G>T (n.1-54385G>T)
c.3784G>T (p.Asp1262Tyr)
c.4330G>T (p.Asp1444Tyr)
c.4147G>T (p.Asp1383Tyr)
c.3868G>T (p.Asp1290Tyr)
c.2911G>T (p.Asp971Tyr)
c.2902G>T (p.Asp968Tyr)
5g.37010193_37010199delCA1075100440NIPBLc.4528_4534del (p.Asp1510MetfsTer?)
c.1-54385_1-54379del (n.1-54385_1-54379del)
c.3784_3790del (p.Asp1262MetfsTer?)
c.4330_4336del (p.Asp1444MetfsTer?)
c.4147_4153del (p.Asp1383MetfsTer?)
c.3868_3874del (p.Asp1290MetfsTer?)
c.2911_2917del (p.Asp971MetfsTer?)
c.2902_2908del (p.Asp968MetfsTer?)
 dbSNP gnomAD v3 gnomAD v4
5g.37010194A=CA1539609324NIPBLc.4529A= (p.Asp1510=)
c.1-54384A= (n.1-54384A=)
c.3785A= (p.Asp1262=)
c.4331A= (p.Asp1444=)
c.4148A= (p.Asp1383=)
c.3869A= (p.Asp1290=)
c.2912A= (p.Asp971=)
c.2903A= (p.Asp968=)
5g.37010194A>CCA359528016NIPBLc.4529A>C (p.Asp1510Ala)
c.1-54384A>C (n.1-54384A>C)
c.3785A>C (p.Asp1262Ala)
c.4331A>C (p.Asp1444Ala)
c.4148A>C (p.Asp1383Ala)
c.3869A>C (p.Asp1290Ala)
c.2912A>C (p.Asp971Ala)
c.2903A>C (p.Asp968Ala)
5g.37010194A>GCA359528013NIPBLc.4529A>G (p.Asp1510Gly)
c.1-54384A>G (n.1-54384A>G)
c.3785A>G (p.Asp1262Gly)
c.4331A>G (p.Asp1444Gly)
c.4148A>G (p.Asp1383Gly)
c.3869A>G (p.Asp1290Gly)
c.2912A>G (p.Asp971Gly)
c.2903A>G (p.Asp968Gly)
 dbSNP gnomAD v2 gnomAD v4
5g.37010194A>TCA359528019NIPBLc.4529A>T (p.Asp1510Val)
c.1-54384A>T (n.1-54384A>T)
c.3785A>T (p.Asp1262Val)
c.4331A>T (p.Asp1444Val)
c.4148A>T (p.Asp1383Val)
c.3869A>T (p.Asp1290Val)
c.2912A>T (p.Asp971Val)
c.2903A>T (p.Asp968Val)
 ClinVar gnomAD v4
5g.37010194dupCA277285NIPBLc.4529dup (p.Asp1510GlufsTer3)
c.1-54384dup (n.1-54384dup)
c.3785dup (p.Asp1262GlufsTer3)
c.4331dup (p.Asp1444GlufsTer3)
c.4148dup (p.Asp1383GlufsTer3)
c.3869dup (p.Asp1290GlufsTer3)
c.2912dup (p.Asp971GlufsTer3)
c.2903dup (p.Asp968GlufsTer3)
 ClinVar dbSNP
5g.37010194_37010196delinsACTCA1539609325NIPBLc.4529_4531delinsACT (p.Asp1510=)
c.1-54384_1-54382delinsACT (n.1-54384_1-54382delinsACT)
c.3785_3787delinsACT (p.Asp1262=)
c.4331_4333delinsACT (p.Asp1444=)
c.4148_4150delinsACT (p.Asp1383=)
c.3869_3871delinsACT (p.Asp1290=)
c.2912_2914delinsACT (p.Asp971=)
c.2903_2905delinsACT (p.Asp968=)
5g.37010195C>ACA359528022NIPBLc.4530C>A (p.Asp1510Glu)
c.1-54383C>A (n.1-54383C>A)
c.3786C>A (p.Asp1262Glu)
c.4332C>A (p.Asp1444Glu)
c.4149C>A (p.Asp1383Glu)
c.3870C>A (p.Asp1290Glu)
c.2913C>A (p.Asp971Glu)
c.2904C>A (p.Asp968Glu)
5g.37010195C>GCA359528024NIPBLc.4530C>G (p.Asp1510Glu)
c.1-54383C>G (n.1-54383C>G)
c.3786C>G (p.Asp1262Glu)
c.4332C>G (p.Asp1444Glu)
c.4149C>G (p.Asp1383Glu)
c.3870C>G (p.Asp1290Glu)
c.2913C>G (p.Asp971Glu)
c.2904C>G (p.Asp968Glu)
5g.37010195C>TCA443905362NIPBLc.4530C>T (p.Asp1510=)
c.1-54383C>T (n.1-54383C>T)
c.3786C>T (p.Asp1262=)
c.4332C>T (p.Asp1444=)
c.4149C>T (p.Asp1383=)
c.3870C>T (p.Asp1290=)
c.2913C>T (p.Asp971=)
c.2904C>T (p.Asp968=)
5g.37010197_37010198delCA276974NIPBLc.4532_4533del (p.Ser1511Ter)
c.1-54381_1-54380del (n.1-54381_1-54380del)
c.3788_3789del (p.Ser1263Ter)
c.4334_4335del (p.Ser1445Ter)
c.4151_4152del (p.Ser1384Ter)
c.3872_3873del (p.Ser1291Ter)
c.2915_2916del (p.Ser972Ter)
c.2906_2907del (p.Ser969Ter)
 ClinVar dbSNP
5g.37010196T>ACA359528028NIPBLc.4531T>A (p.Ser1511Thr)
c.1-54382T>A (n.1-54382T>A)
c.3787T>A (p.Ser1263Thr)
c.4333T>A (p.Ser1445Thr)
c.4150T>A (p.Ser1384Thr)
c.3871T>A (p.Ser1291Thr)
c.2914T>A (p.Ser972Thr)
c.2905T>A (p.Ser969Thr)
5g.37010196T>CCA117062978NIPBLc.4531T>C (p.Ser1511Pro)
c.1-54382T>C (n.1-54382T>C)
c.3787T>C (p.Ser1263Pro)
c.4333T>C (p.Ser1445Pro)
c.4150T>C (p.Ser1384Pro)
c.3871T>C (p.Ser1291Pro)
c.2914T>C (p.Ser972Pro)
c.2905T>C (p.Ser969Pro)
 dbSNP gnomAD v4
5g.37010196T>GCA359528031NIPBLc.4531T>G (p.Ser1511Ala)
c.1-54382T>G (n.1-54382T>G)
c.3787T>G (p.Ser1263Ala)
c.4333T>G (p.Ser1445Ala)
c.4150T>G (p.Ser1384Ala)
c.3871T>G (p.Ser1291Ala)
c.2914T>G (p.Ser972Ala)
c.2905T>G (p.Ser969Ala)
5g.37010196T=CA1539609330NIPBLc.4531T= (p.Ser1511=)
c.1-54382T= (n.1-54382T=)
c.3787T= (p.Ser1263=)
c.4333T= (p.Ser1445=)
c.4150T= (p.Ser1384=)
c.3871T= (p.Ser1291=)
c.2914T= (p.Ser972=)
c.2905T= (p.Ser969=)
5g.37010197C>ACA359528034NIPBLc.4532C>A (p.Ser1511Tyr)
c.1-54381C>A (n.1-54381C>A)
c.3788C>A (p.Ser1263Tyr)
c.4334C>A (p.Ser1445Tyr)
c.4151C>A (p.Ser1384Tyr)
c.3872C>A (p.Ser1291Tyr)
c.2915C>A (p.Ser972Tyr)
c.2906C>A (p.Ser969Tyr)
5g.37010197C>GCA359528036NIPBLc.4532C>G (p.Ser1511Cys)
c.1-54381C>G (n.1-54381C>G)
c.3788C>G (p.Ser1263Cys)
c.4334C>G (p.Ser1445Cys)
c.4151C>G (p.Ser1384Cys)
c.3872C>G (p.Ser1291Cys)
c.2915C>G (p.Ser972Cys)
c.2906C>G (p.Ser969Cys)
5g.37010197C>TCA359528039NIPBLc.4532C>T (p.Ser1511Phe)
c.1-54381C>T (n.1-54381C>T)
c.3788C>T (p.Ser1263Phe)
c.4334C>T (p.Ser1445Phe)
c.4151C>T (p.Ser1384Phe)
c.3872C>T (p.Ser1291Phe)
c.2915C>T (p.Ser972Phe)
c.2906C>T (p.Ser969Phe)
5g.37010198T>ACA443905364NIPBLc.4533T>A (p.Ser1511=)
c.1-54380T>A (n.1-54380T>A)
c.3789T>A (p.Ser1263=)
c.4335T>A (p.Ser1445=)
c.4152T>A (p.Ser1384=)
c.3873T>A (p.Ser1291=)
c.2916T>A (p.Ser972=)
c.2907T>A (p.Ser969=)
 dbSNP gnomAD v4
5g.37010198T>CCA443905363NIPBLc.4533T>C (p.Ser1511=)
c.1-54380T>C (n.1-54380T>C)
c.3789T>C (p.Ser1263=)
c.4335T>C (p.Ser1445=)
c.4152T>C (p.Ser1384=)
c.3873T>C (p.Ser1291=)
c.2916T>C (p.Ser972=)
c.2907T>C (p.Ser969=)
5g.37010198T>GCA443905365NIPBLc.4533T>G (p.Ser1511=)
c.1-54380T>G (n.1-54380T>G)
c.3789T>G (p.Ser1263=)
c.4335T>G (p.Ser1445=)
c.4152T>G (p.Ser1384=)
c.3873T>G (p.Ser1291=)
c.2916T>G (p.Ser972=)
c.2907T>G (p.Ser969=)
5g.37010198T=CA1539609332NIPBLc.4533T= (p.Ser1511=)
c.1-54380T= (n.1-54380T=)
c.3789T= (p.Ser1263=)
c.4335T= (p.Ser1445=)
c.4152T= (p.Ser1384=)
c.3873T= (p.Ser1291=)
c.2916T= (p.Ser972=)
c.2907T= (p.Ser969=)
5g.37010199A=CA1539609333NIPBLc.4534A= (p.Asn1512=)
c.1-54379A= (n.1-54379A=)
c.3790A= (p.Asn1264=)
c.4336A= (p.Asn1446=)
c.4153A= (p.Asn1385=)
c.3874A= (p.Asn1292=)
c.2917A= (p.Asn973=)
c.2908A= (p.Asn970=)
5g.37010199A>CCA359528043NIPBLc.4534A>C (p.Asn1512His)
c.1-54379A>C (n.1-54379A>C)
c.3790A>C (p.Asn1264His)
c.4336A>C (p.Asn1446His)
c.4153A>C (p.Asn1385His)
c.3874A>C (p.Asn1292His)
c.2917A>C (p.Asn973His)
c.2908A>C (p.Asn970His)
5g.37010199A>GCA359528046NIPBLc.4534A>G (p.Asn1512Asp)
c.1-54379A>G (n.1-54379A>G)
c.3790A>G (p.Asn1264Asp)
c.4336A>G (p.Asn1446Asp)
c.4153A>G (p.Asn1385Asp)
c.3874A>G (p.Asn1292Asp)
c.2917A>G (p.Asn973Asp)
c.2908A>G (p.Asn970Asp)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.37010199A>TCA359528048NIPBLc.4534A>T (p.Asn1512Tyr)
c.1-54379A>T (n.1-54379A>T)
c.3790A>T (p.Asn1264Tyr)
c.4336A>T (p.Asn1446Tyr)
c.4153A>T (p.Asn1385Tyr)
c.3874A>T (p.Asn1292Tyr)
c.2917A>T (p.Asn973Tyr)
c.2908A>T (p.Asn970Tyr)
5g.37010200A=CA1539609335NIPBLc.4535A= (p.Asn1512=)
c.1-54378A= (n.1-54378A=)
c.3791A= (p.Asn1264=)
c.4337A= (p.Asn1446=)
c.4154A= (p.Asn1385=)
c.3875A= (p.Asn1292=)
c.2918A= (p.Asn973=)
c.2909A= (p.Asn970=)
5g.37010200A>CCA359528053NIPBLc.4535A>C (p.Asn1512Thr)
c.1-54378A>C (n.1-54378A>C)
c.3791A>C (p.Asn1264Thr)
c.4337A>C (p.Asn1446Thr)
c.4154A>C (p.Asn1385Thr)
c.3875A>C (p.Asn1292Thr)
c.2918A>C (p.Asn973Thr)
c.2909A>C (p.Asn970Thr)
5g.37010200A>GCA359528050NIPBLc.4535A>G (p.Asn1512Ser)
c.1-54378A>G (n.1-54378A>G)
c.3791A>G (p.Asn1264Ser)
c.4337A>G (p.Asn1446Ser)
c.4154A>G (p.Asn1385Ser)
c.3875A>G (p.Asn1292Ser)
c.2918A>G (p.Asn973Ser)
c.2909A>G (p.Asn970Ser)
5g.37010200A>TCA172697NIPBLc.4535A>T (p.Asn1512Ile)
c.1-54378A>T (n.1-54378A>T)
c.3791A>T (p.Asn1264Ile)
c.4337A>T (p.Asn1446Ile)
c.4154A>T (p.Asn1385Ile)
c.3875A>T (p.Asn1292Ile)
c.2918A>T (p.Asn973Ile)
c.2909A>T (p.Asn970Ile)
 ClinVar dbSNP
5g.37010201T>ACA359528056NIPBLc.4536T>A (p.Asn1512Lys)
c.1-54377T>A (n.1-54377T>A)
c.3792T>A (p.Asn1264Lys)
c.4338T>A (p.Asn1446Lys)
c.4155T>A (p.Asn1385Lys)
c.3876T>A (p.Asn1292Lys)
c.2919T>A (p.Asn973Lys)
c.2910T>A (p.Asn970Lys)
5g.37010201T>CCA443905366NIPBLc.4536T>C (p.Asn1512=)
c.1-54377T>C (n.1-54377T>C)
c.3792T>C (p.Asn1264=)
c.4338T>C (p.Asn1446=)
c.4155T>C (p.Asn1385=)
c.3876T>C (p.Asn1292=)
c.2919T>C (p.Asn973=)
c.2910T>C (p.Asn970=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
5g.37010201T>GCA359528058NIPBLc.4536T>G (p.Asn1512Lys)
c.1-54377T>G (n.1-54377T>G)
c.3792T>G (p.Asn1264Lys)
c.4338T>G (p.Asn1446Lys)
c.4155T>G (p.Asn1385Lys)
c.3876T>G (p.Asn1292Lys)
c.2919T>G (p.Asn973Lys)
c.2910T>G (p.Asn970Lys)
5g.37010201T=CA1539609337NIPBLc.4536T= (p.Asn1512=)
c.1-54377T= (n.1-54377T=)
c.3792T= (p.Asn1264=)
c.4338T= (p.Asn1446=)
c.4155T= (p.Asn1385=)
c.3876T= (p.Asn1292=)
c.2919T= (p.Asn973=)
c.2910T= (p.Asn970=)
5g.37010202G>ACA359528061NIPBLc.4537G>A (p.Ala1513Thr)
c.1-54376G>A (n.1-54376G>A)
c.3793G>A (p.Ala1265Thr)
c.4339G>A (p.Ala1447Thr)
c.4156G>A (p.Ala1386Thr)
c.3877G>A (p.Ala1293Thr)
c.2920G>A (p.Ala974Thr)
c.2911G>A (p.Ala971Thr)
5g.37010202G>CCA359528065NIPBLc.4537G>C (p.Ala1513Pro)
c.1-54376G>C (n.1-54376G>C)
c.3793G>C (p.Ala1265Pro)
c.4339G>C (p.Ala1447Pro)
c.4156G>C (p.Ala1386Pro)
c.3877G>C (p.Ala1293Pro)
c.2920G>C (p.Ala974Pro)
c.2911G>C (p.Ala971Pro)
5g.37010202G>TCA359528066NIPBLc.4537G>T (p.Ala1513Ser)
c.1-54376G>T (n.1-54376G>T)
c.3793G>T (p.Ala1265Ser)
c.4339G>T (p.Ala1447Ser)
c.4156G>T (p.Ala1386Ser)
c.3877G>T (p.Ala1293Ser)
c.2920G>T (p.Ala974Ser)
c.2911G>T (p.Ala971Ser)
5g.37010203C>ACA359528068NIPBLc.4538C>A (p.Ala1513Glu)
c.1-54375C>A (n.1-54375C>A)
c.3794C>A (p.Ala1265Glu)
c.4340C>A (p.Ala1447Glu)
c.4157C>A (p.Ala1386Glu)
c.3878C>A (p.Ala1293Glu)
c.2921C>A (p.Ala974Glu)
c.2912C>A (p.Ala971Glu)
5g.37010203C>GCA359528069NIPBLc.4538C>G (p.Ala1513Gly)
c.1-54375C>G (n.1-54375C>G)
c.3794C>G (p.Ala1265Gly)
c.4340C>G (p.Ala1447Gly)
c.4157C>G (p.Ala1386Gly)
c.3878C>G (p.Ala1293Gly)
c.2921C>G (p.Ala974Gly)
c.2912C>G (p.Ala971Gly)
5g.37010203C>TCA359528070NIPBLc.4538C>T (p.Ala1513Val)
c.1-54375C>T (n.1-54375C>T)
c.3794C>T (p.Ala1265Val)
c.4340C>T (p.Ala1447Val)
c.4157C>T (p.Ala1386Val)
c.3878C>T (p.Ala1293Val)
c.2921C>T (p.Ala974Val)
c.2912C>T (p.Ala971Val)
5g.37010203_37010206delinsCAGACA1539609338NIPBLc.4538_4541delinsCAGA (p.Ala1513=)
c.1-54375_1-54372delinsCAGA (n.1-54375_1-54372delinsCAGA)
c.3794_3797delinsCAGA (p.Ala1265=)
c.4340_4343delinsCAGA (p.Ala1447=)
c.4157_4160delinsCAGA (p.Ala1386=)
c.3878_3881delinsCAGA (p.Ala1293=)
c.2921_2924delinsCAGA (p.Ala974=)
c.2912_2915delinsCAGA (p.Ala971=)
5g.37010204A>CCA443905367NIPBLc.4539A>C (p.Ala1513=)
c.1-54374A>C (n.1-54374A>C)
c.3795A>C (p.Ala1265=)
c.4341A>C (p.Ala1447=)
c.4158A>C (p.Ala1386=)
c.3879A>C (p.Ala1293=)
c.2922A>C (p.Ala974=)
c.2913A>C (p.Ala971=)
5g.37010204A>GCA443905368NIPBLc.4539A>G (p.Ala1513=)
c.1-54374A>G (n.1-54374A>G)
c.3795A>G (p.Ala1265=)
c.4341A>G (p.Ala1447=)
c.4158A>G (p.Ala1386=)
c.3879A>G (p.Ala1293=)
c.2922A>G (p.Ala974=)
c.2913A>G (p.Ala971=)
5g.37010204A>TCA443905369NIPBLc.4539A>T (p.Ala1513=)
c.1-54374A>T (n.1-54374A>T)
c.3795A>T (p.Ala1265=)
c.4341A>T (p.Ala1447=)
c.4158A>T (p.Ala1386=)
c.3879A>T (p.Ala1293=)
c.2922A>T (p.Ala974=)
c.2913A>T (p.Ala971=)
5g.37010210_37010212delCA915940294NIPBLc.4545_4547del (p.Glu1515del)
c.1-54368_1-54366del (n.1-54368_1-54366del)
c.3801_3803del (p.Glu1267del)
c.4347_4349del (p.Glu1449del)
c.4164_4166del (p.Glu1388del)
c.3885_3887del (p.Glu1295del)
c.2928_2930del (p.Glu976del)
c.2919_2921del (p.Glu973del)
 ClinVar dbSNP gnomAD v3 gnomAD v4
5g.37010205G>ACA117062987NIPBLc.4540G>A (p.Glu1514Lys)
c.1-54373G>A (n.1-54373G>A)
c.3796G>A (p.Glu1266Lys)
c.4342G>A (p.Glu1448Lys)
c.4159G>A (p.Glu1387Lys)
c.3880G>A (p.Glu1294Lys)
c.2923G>A (p.Glu975Lys)
c.2914G>A (p.Glu972Lys)
 dbSNP
5g.37010205G>CCA359528076NIPBLc.4540G>C (p.Glu1514Gln)
c.1-54373G>C (n.1-54373G>C)
c.3796G>C (p.Glu1266Gln)
c.4342G>C (p.Glu1448Gln)
c.4159G>C (p.Glu1387Gln)
c.3880G>C (p.Glu1294Gln)
c.2923G>C (p.Glu975Gln)
c.2914G>C (p.Glu972Gln)
5g.37010205G=CA1539609339NIPBLc.4540G= (p.Glu1514=)
c.1-54373G= (n.1-54373G=)
c.3796G= (p.Glu1266=)
c.4342G= (p.Glu1448=)
c.4159G= (p.Glu1387=)
c.3880G= (p.Glu1294=)
c.2923G= (p.Glu975=)
c.2914G= (p.Glu972=)
5g.37010205G>TCA359528078NIPBLc.4540G>T (p.Glu1514Ter)
c.1-54373G>T (n.1-54373G>T)
c.3796G>T (p.Glu1266Ter)
c.4342G>T (p.Glu1448Ter)
c.4159G>T (p.Glu1387Ter)
c.3880G>T (p.Glu1294Ter)
c.2923G>T (p.Glu975Ter)
c.2914G>T (p.Glu972Ter)
5g.37010206A>CCA359528084NIPBLc.4541A>C (p.Glu1514Ala)
c.1-54372A>C (n.1-54372A>C)
c.3797A>C (p.Glu1266Ala)
c.4343A>C (p.Glu1448Ala)
c.4160A>C (p.Glu1387Ala)
c.3881A>C (p.Glu1294Ala)
c.2924A>C (p.Glu975Ala)
c.2915A>C (p.Glu972Ala)
5g.37010206A>GCA359528087NIPBLc.4541A>G (p.Glu1514Gly)
c.1-54372A>G (n.1-54372A>G)
c.3797A>G (p.Glu1266Gly)
c.4343A>G (p.Glu1448Gly)
c.4160A>G (p.Glu1387Gly)
c.3881A>G (p.Glu1294Gly)
c.2924A>G (p.Glu975Gly)
c.2915A>G (p.Glu972Gly)
5g.37010206A>TCA359528082NIPBLc.4541A>T (p.Glu1514Val)
c.1-54372A>T (n.1-54372A>T)
c.3797A>T (p.Glu1266Val)
c.4343A>T (p.Glu1448Val)
c.4160A>T (p.Glu1387Val)
c.3881A>T (p.Glu1294Val)
c.2924A>T (p.Glu975Val)
c.2915A>T (p.Glu972Val)
5g.37010207A>CCA359528091NIPBLc.4542A>C (p.Glu1514Asp)
c.1-54371A>C (n.1-54371A>C)
c.3798A>C (p.Glu1266Asp)
c.4344A>C (p.Glu1448Asp)
c.4161A>C (p.Glu1387Asp)
c.3882A>C (p.Glu1294Asp)
c.2925A>C (p.Glu975Asp)
c.2916A>C (p.Glu972Asp)
 COSMIC COSMIC
5g.37010207A>GCA443905370NIPBLc.4542A>G (p.Glu1514=)
c.1-54371A>G (n.1-54371A>G)
c.3798A>G (p.Glu1266=)
c.4344A>G (p.Glu1448=)
c.4161A>G (p.Glu1387=)
c.3882A>G (p.Glu1294=)
c.2925A>G (p.Glu975=)
c.2916A>G (p.Glu972=)
 gnomAD v4
5g.37010207A>TCA359528093NIPBLc.4542A>T (p.Glu1514Asp)
c.1-54371A>T (n.1-54371A>T)
c.3798A>T (p.Glu1266Asp)
c.4344A>T (p.Glu1448Asp)
c.4161A>T (p.Glu1387Asp)
c.3882A>T (p.Glu1294Asp)
c.2925A>T (p.Glu975Asp)
c.2916A>T (p.Glu972Asp)
5g.37010208G>ACA359528096NIPBLc.4543G>A (p.Glu1515Lys)
c.1-54370G>A (n.1-54370G>A)
c.3799G>A (p.Glu1267Lys)
c.4345G>A (p.Glu1449Lys)
c.4162G>A (p.Glu1388Lys)
c.3883G>A (p.Glu1295Lys)
c.2926G>A (p.Glu976Lys)
c.2917G>A (p.Glu973Lys)
 COSMIC COSMIC
5g.37010208G>CCA359528099NIPBLc.4543G>C (p.Glu1515Gln)
c.1-54370G>C (n.1-54370G>C)
c.3799G>C (p.Glu1267Gln)
c.4345G>C (p.Glu1449Gln)
c.4162G>C (p.Glu1388Gln)
c.3883G>C (p.Glu1295Gln)
c.2926G>C (p.Glu976Gln)
c.2917G>C (p.Glu973Gln)
5g.37010208G=CA1539609343NIPBLc.4543G= (p.Glu1515=)
c.1-54370G= (n.1-54370G=)
c.3799G= (p.Glu1267=)
c.4345G= (p.Glu1449=)
c.4162G= (p.Glu1388=)
c.3883G= (p.Glu1295=)
c.2926G= (p.Glu976=)
c.2917G= (p.Glu973=)
5g.37010208G>TCA272113NIPBLc.4543G>T (p.Glu1515Ter)
c.1-54370G>T (n.1-54370G>T)
c.3799G>T (p.Glu1267Ter)
c.4345G>T (p.Glu1449Ter)
c.4162G>T (p.Glu1388Ter)
c.3883G>T (p.Glu1295Ter)
c.2926G>T (p.Glu976Ter)
c.2917G>T (p.Glu973Ter)
 ClinVar dbSNP

Number of alleles fetched