Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.37048577A>CCA359508214NIPBLc.6665A>C (p.Asp2222Ala)
c.1-16001A>C (n.1-16001A>C)
c.5921A>C (p.Asp1974Ala)
c.6467A>C (p.Asp2156Ala)
c.6284A>C (p.Asp2095Ala)
c.6005A>C (p.Asp2002Ala)
c.5048A>C (p.Asp1683Ala)
c.5039A>C (p.Asp1680Ala)
5g.37048577A>GCA359508217NIPBLc.6665A>G (p.Asp2222Gly)
c.1-16001A>G (n.1-16001A>G)
c.5921A>G (p.Asp1974Gly)
c.6467A>G (p.Asp2156Gly)
c.6284A>G (p.Asp2095Gly)
c.6005A>G (p.Asp2002Gly)
c.5048A>G (p.Asp1683Gly)
c.5039A>G (p.Asp1680Gly)
5g.37048577A>TCA359508220NIPBLc.6665A>T (p.Asp2222Val)
c.1-16001A>T (n.1-16001A>T)
c.5921A>T (p.Asp1974Val)
c.6467A>T (p.Asp2156Val)
c.6284A>T (p.Asp2095Val)
c.6005A>T (p.Asp2002Val)
c.5048A>T (p.Asp1683Val)
c.5039A>T (p.Asp1680Val)
5g.37048578T>ACA359508222NIPBLc.6666T>A (p.Asp2222Glu)
c.1-16000T>A (n.1-16000T>A)
c.5922T>A (p.Asp1974Glu)
c.6468T>A (p.Asp2156Glu)
c.6285T>A (p.Asp2095Glu)
c.6006T>A (p.Asp2002Glu)
c.5049T>A (p.Asp1683Glu)
c.5040T>A (p.Asp1680Glu)
5g.37048578T>CCA443907119NIPBLc.6666T>C (p.Asp2222=)
c.1-16000T>C (n.1-16000T>C)
c.5922T>C (p.Asp1974=)
c.6468T>C (p.Asp2156=)
c.6285T>C (p.Asp2095=)
c.6006T>C (p.Asp2002=)
c.5049T>C (p.Asp1683=)
c.5040T>C (p.Asp1680=)
5g.37048578T>GCA359508224NIPBLc.6666T>G (p.Asp2222Glu)
c.1-16000T>G (n.1-16000T>G)
c.5922T>G (p.Asp1974Glu)
c.6468T>G (p.Asp2156Glu)
c.6285T>G (p.Asp2095Glu)
c.6006T>G (p.Asp2002Glu)
c.5049T>G (p.Asp1683Glu)
c.5040T>G (p.Asp1680Glu)
5g.37048579A>CCA359508228NIPBLc.6667A>C (p.Lys2223Gln)
c.1-15999A>C (n.1-15999A>C)
c.5923A>C (p.Lys1975Gln)
c.6469A>C (p.Lys2157Gln)
c.6286A>C (p.Lys2096Gln)
c.6007A>C (p.Lys2003Gln)
c.5050A>C (p.Lys1684Gln)
c.5041A>C (p.Lys1681Gln)
5g.37048579A>GCA359508232NIPBLc.6667A>G (p.Lys2223Glu)
c.1-15999A>G (n.1-15999A>G)
c.5923A>G (p.Lys1975Glu)
c.6469A>G (p.Lys2157Glu)
c.6286A>G (p.Lys2096Glu)
c.6007A>G (p.Lys2003Glu)
c.5050A>G (p.Lys1684Glu)
c.5041A>G (p.Lys1681Glu)
5g.37048579A>TCA359508230NIPBLc.6667A>T (p.Lys2223Ter)
c.1-15999A>T (n.1-15999A>T)
c.5923A>T (p.Lys1975Ter)
c.6469A>T (p.Lys2157Ter)
c.6286A>T (p.Lys2096Ter)
c.6007A>T (p.Lys2003Ter)
c.5050A>T (p.Lys1684Ter)
c.5041A>T (p.Lys1681Ter)
5g.37048581_37048583delCA2673582270NIPBLc.6669_6671del (p.Lys2223del)
c.1-15997_1-15995del (n.1-15997_1-15995del)
c.5925_5927del (p.Lys1975del)
c.6471_6473del (p.Lys2157del)
c.6288_6290del (p.Lys2096del)
c.6009_6011del (p.Lys2003del)
c.5052_5054del (p.Lys1684del)
c.5043_5045del (p.Lys1681del)
 gnomAD v4
5g.37048580A>CCA359508236NIPBLc.6668A>C (p.Lys2223Thr)
c.1-15998A>C (n.1-15998A>C)
c.5924A>C (p.Lys1975Thr)
c.6470A>C (p.Lys2157Thr)
c.6287A>C (p.Lys2096Thr)
c.6008A>C (p.Lys2003Thr)
c.5051A>C (p.Lys1684Thr)
c.5042A>C (p.Lys1681Thr)
5g.37048580A>GCA359508238NIPBLc.6668A>G (p.Lys2223Arg)
c.1-15998A>G (n.1-15998A>G)
c.5924A>G (p.Lys1975Arg)
c.6470A>G (p.Lys2157Arg)
c.6287A>G (p.Lys2096Arg)
c.6008A>G (p.Lys2003Arg)
c.5051A>G (p.Lys1684Arg)
c.5042A>G (p.Lys1681Arg)
 gnomAD v4
5g.37048580A>TCA359508240NIPBLc.6668A>T (p.Lys2223Met)
c.1-15998A>T (n.1-15998A>T)
c.5924A>T (p.Lys1975Met)
c.6470A>T (p.Lys2157Met)
c.6287A>T (p.Lys2096Met)
c.6008A>T (p.Lys2003Met)
c.5051A>T (p.Lys1684Met)
c.5042A>T (p.Lys1681Met)
5g.37048581G>ACA443907120NIPBLc.6669G>A (p.Lys2223=)
c.1-15997G>A (n.1-15997G>A)
c.5925G>A (p.Lys1975=)
c.6471G>A (p.Lys2157=)
c.6288G>A (p.Lys2096=)
c.6009G>A (p.Lys2003=)
c.5052G>A (p.Lys1684=)
c.5043G>A (p.Lys1681=)
5g.37048581G>CCA359508242NIPBLc.6669G>C (p.Lys2223Asn)
c.1-15997G>C (n.1-15997G>C)
c.5925G>C (p.Lys1975Asn)
c.6471G>C (p.Lys2157Asn)
c.6288G>C (p.Lys2096Asn)
c.6009G>C (p.Lys2003Asn)
c.5052G>C (p.Lys1684Asn)
c.5043G>C (p.Lys1681Asn)
5g.37048581G=CA1539567620NIPBLc.6669G= (p.Lys2223=)
c.1-15997G= (n.1-15997G=)
c.5925G= (p.Lys1975=)
c.6471G= (p.Lys2157=)
c.6288G= (p.Lys2096=)
c.6009G= (p.Lys2003=)
c.5052G= (p.Lys1684=)
c.5043G= (p.Lys1681=)
5g.37048581G>TCA359508244NIPBLc.6669G>T (p.Lys2223Asn)
c.1-15997G>T (n.1-15997G>T)
c.5925G>T (p.Lys1975Asn)
c.6471G>T (p.Lys2157Asn)
c.6288G>T (p.Lys2096Asn)
c.6009G>T (p.Lys2003Asn)
c.5052G>T (p.Lys1684Asn)
c.5043G>T (p.Lys1681Asn)
 dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
5g.37048582A=CA1539567626NIPBLc.6670A= (p.Asn2224=)
c.1-15996A= (n.1-15996A=)
c.5926A= (p.Asn1976=)
c.6472A= (p.Asn2158=)
c.6289A= (p.Asn2097=)
c.6010A= (p.Asn2004=)
c.5053A= (p.Asn1685=)
c.5044A= (p.Asn1682=)
5g.37048582A>CCA359508247NIPBLc.6670A>C (p.Asn2224His)
c.1-15996A>C (n.1-15996A>C)
c.5926A>C (p.Asn1976His)
c.6472A>C (p.Asn2158His)
c.6289A>C (p.Asn2097His)
c.6010A>C (p.Asn2004His)
c.5053A>C (p.Asn1685His)
c.5044A>C (p.Asn1682His)
5g.37048582A>GCA359508250NIPBLc.6670A>G (p.Asn2224Asp)
c.1-15996A>G (n.1-15996A>G)
c.5926A>G (p.Asn1976Asp)
c.6472A>G (p.Asn2158Asp)
c.6289A>G (p.Asn2097Asp)
c.6010A>G (p.Asn2004Asp)
c.5053A>G (p.Asn1685Asp)
c.5044A>G (p.Asn1682Asp)
 dbSNP gnomAD v3 gnomAD v4
5g.37048582A>TCA359508252NIPBLc.6670A>T (p.Asn2224Tyr)
c.1-15996A>T (n.1-15996A>T)
c.5926A>T (p.Asn1976Tyr)
c.6472A>T (p.Asn2158Tyr)
c.6289A>T (p.Asn2097Tyr)
c.6010A>T (p.Asn2004Tyr)
c.5053A>T (p.Asn1685Tyr)
c.5044A>T (p.Asn1682Tyr)
5g.37048583A=CA1539567630NIPBLc.6671A= (p.Asn2224=)
c.1-15995A= (n.1-15995A=)
c.5927A= (p.Asn1976=)
c.6473A= (p.Asn2158=)
c.6290A= (p.Asn2097=)
c.6011A= (p.Asn2004=)
c.5054A= (p.Asn1685=)
c.5045A= (p.Asn1682=)
5g.37048583A>CCA359508255NIPBLc.6671A>C (p.Asn2224Thr)
c.1-15995A>C (n.1-15995A>C)
c.5927A>C (p.Asn1976Thr)
c.6473A>C (p.Asn2158Thr)
c.6290A>C (p.Asn2097Thr)
c.6011A>C (p.Asn2004Thr)
c.5054A>C (p.Asn1685Thr)
c.5045A>C (p.Asn1682Thr)
5g.37048583A>GCA359508258NIPBLc.6671A>G (p.Asn2224Ser)
c.1-15995A>G (n.1-15995A>G)
c.5927A>G (p.Asn1976Ser)
c.6473A>G (p.Asn2158Ser)
c.6290A>G (p.Asn2097Ser)
c.6011A>G (p.Asn2004Ser)
c.5054A>G (p.Asn1685Ser)
c.5045A>G (p.Asn1682Ser)
 dbSNP gnomAD v2 gnomAD v4
5g.37048583A>TCA359508259NIPBLc.6671A>T (p.Asn2224Ile)
c.1-15995A>T (n.1-15995A>T)
c.5927A>T (p.Asn1976Ile)
c.6473A>T (p.Asn2158Ile)
c.6290A>T (p.Asn2097Ile)
c.6011A>T (p.Asn2004Ile)
c.5054A>T (p.Asn1685Ile)
c.5045A>T (p.Asn1682Ile)
5g.37048584C>ACA359508262NIPBLc.6672C>A (p.Asn2224Lys)
c.1-15994C>A (n.1-15994C>A)
c.5928C>A (p.Asn1976Lys)
c.6474C>A (p.Asn2158Lys)
c.6291C>A (p.Asn2097Lys)
c.6012C>A (p.Asn2004Lys)
c.5055C>A (p.Asn1685Lys)
c.5046C>A (p.Asn1682Lys)
5g.37048584C>GCA359508264NIPBLc.6672C>G (p.Asn2224Lys)
c.1-15994C>G (n.1-15994C>G)
c.5928C>G (p.Asn1976Lys)
c.6474C>G (p.Asn2158Lys)
c.6291C>G (p.Asn2097Lys)
c.6012C>G (p.Asn2004Lys)
c.5055C>G (p.Asn1685Lys)
c.5046C>G (p.Asn1682Lys)
 gnomAD v4
5g.37048584C>TCA443907121NIPBLc.6672C>T (p.Asn2224=)
c.1-15994C>T (n.1-15994C>T)
c.5928C>T (p.Asn1976=)
c.6474C>T (p.Asn2158=)
c.6291C>T (p.Asn2097=)
c.6012C>T (p.Asn2004=)
c.5055C>T (p.Asn1685=)
c.5046C>T (p.Asn1682=)
 gnomAD v4
5g.37048585delCA443907122NIPBLc.6673del (p.Ser2225ProfsTer5)
c.1-15993del (n.1-15993del)
c.5929del (p.Ser1977ProfsTer5)
c.6475del (p.Ser2159ProfsTer5)
c.6292del (p.Ser2098ProfsTer5)
c.6013del (p.Ser2005ProfsTer5)
c.5056del (p.Ser1686ProfsTer5)
c.5047del (p.Ser1683ProfsTer5)
5g.37048585T>ACA359508265NIPBLc.6673T>A (p.Ser2225Thr)
c.1-15993T>A (n.1-15993T>A)
c.5929T>A (p.Ser1977Thr)
c.6475T>A (p.Ser2159Thr)
c.6292T>A (p.Ser2098Thr)
c.6013T>A (p.Ser2005Thr)
c.5056T>A (p.Ser1686Thr)
c.5047T>A (p.Ser1683Thr)
5g.37048585T>CCA359508268NIPBLc.6673T>C (p.Ser2225Pro)
c.1-15993T>C (n.1-15993T>C)
c.5929T>C (p.Ser1977Pro)
c.6475T>C (p.Ser2159Pro)
c.6292T>C (p.Ser2098Pro)
c.6013T>C (p.Ser2005Pro)
c.5056T>C (p.Ser1686Pro)
c.5047T>C (p.Ser1683Pro)
5g.37048585T>GCA359508267NIPBLc.6673T>G (p.Ser2225Ala)
c.1-15993T>G (n.1-15993T>G)
c.5929T>G (p.Ser1977Ala)
c.6475T>G (p.Ser2159Ala)
c.6292T>G (p.Ser2098Ala)
c.6013T>G (p.Ser2005Ala)
c.5056T>G (p.Ser1686Ala)
c.5047T>G (p.Ser1683Ala)
 gnomAD v4
5g.37048586C>ACA359508277NIPBLc.6674C>A (p.Ser2225Tyr)
c.1-15992C>A (n.1-15992C>A)
c.5930C>A (p.Ser1977Tyr)
c.6476C>A (p.Ser2159Tyr)
c.6293C>A (p.Ser2098Tyr)
c.6014C>A (p.Ser2005Tyr)
c.5057C>A (p.Ser1686Tyr)
c.5048C>A (p.Ser1683Tyr)
5g.37048586C=CA1539567636NIPBLc.6674C= (p.Ser2225=)
c.1-15992C= (n.1-15992C=)
c.5930C= (p.Ser1977=)
c.6476C= (p.Ser2159=)
c.6293C= (p.Ser2098=)
c.6014C= (p.Ser2005=)
c.5057C= (p.Ser1686=)
c.5048C= (p.Ser1683=)
5g.37048586C>GCA359508279NIPBLc.6674C>G (p.Ser2225Cys)
c.1-15992C>G (n.1-15992C>G)
c.5930C>G (p.Ser1977Cys)
c.6476C>G (p.Ser2159Cys)
c.6293C>G (p.Ser2098Cys)
c.6014C>G (p.Ser2005Cys)
c.5057C>G (p.Ser1686Cys)
c.5048C>G (p.Ser1683Cys)
5g.37048586C>TCA3237043NIPBLc.6674C>T (p.Ser2225Phe)
c.1-15992C>T (n.1-15992C>T)
c.5930C>T (p.Ser1977Phe)
c.6476C>T (p.Ser2159Phe)
c.6293C>T (p.Ser2098Phe)
c.6014C>T (p.Ser2005Phe)
c.5057C>T (p.Ser1686Phe)
c.5048C>T (p.Ser1683Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.37048587C>ACA443907123NIPBLc.6675C>A (p.Ser2225=)
c.1-15991C>A (n.1-15991C>A)
c.5931C>A (p.Ser1977=)
c.6477C>A (p.Ser2159=)
c.6294C>A (p.Ser2098=)
c.6015C>A (p.Ser2005=)
c.5058C>A (p.Ser1686=)
c.5049C>A (p.Ser1683=)
5g.37048587C=CA1539567646NIPBLc.6675C= (p.Ser2225=)
c.1-15991C= (n.1-15991C=)
c.5931C= (p.Ser1977=)
c.6477C= (p.Ser2159=)
c.6294C= (p.Ser2098=)
c.6015C= (p.Ser2005=)
c.5058C= (p.Ser1686=)
c.5049C= (p.Ser1683=)
5g.37048587C>GCA443907124NIPBLc.6675C>G (p.Ser2225=)
c.1-15991C>G (n.1-15991C>G)
c.5931C>G (p.Ser1977=)
c.6477C>G (p.Ser2159=)
c.6294C>G (p.Ser2098=)
c.6015C>G (p.Ser2005=)
c.5058C>G (p.Ser1686=)
c.5049C>G (p.Ser1683=)
5g.37048587C>TCA3237044NIPBLc.6675C>T (p.Ser2225=)
c.1-15991C>T (n.1-15991C>T)
c.5931C>T (p.Ser1977=)
c.6477C>T (p.Ser2159=)
c.6294C>T (p.Ser2098=)
c.6015C>T (p.Ser2005=)
c.5058C>T (p.Ser1686=)
c.5049C>T (p.Ser1683=)
 dbSNP ExAC gnomAD v4
5g.37048588T>ACA359508290NIPBLc.6676T>A (p.Ser2226Thr)
c.1-15990T>A (n.1-15990T>A)
c.5932T>A (p.Ser1978Thr)
c.6478T>A (p.Ser2160Thr)
c.6295T>A (p.Ser2099Thr)
c.6016T>A (p.Ser2006Thr)
c.5059T>A (p.Ser1687Thr)
c.5050T>A (p.Ser1684Thr)
5g.37048588T>CCA359508294NIPBLc.6676T>C (p.Ser2226Pro)
c.1-15990T>C (n.1-15990T>C)
c.5932T>C (p.Ser1978Pro)
c.6478T>C (p.Ser2160Pro)
c.6295T>C (p.Ser2099Pro)
c.6016T>C (p.Ser2006Pro)
c.5059T>C (p.Ser1687Pro)
c.5050T>C (p.Ser1684Pro)
5g.37048588T>GCA359508295NIPBLc.6676T>G (p.Ser2226Ala)
c.1-15990T>G (n.1-15990T>G)
c.5932T>G (p.Ser1978Ala)
c.6478T>G (p.Ser2160Ala)
c.6295T>G (p.Ser2099Ala)
c.6016T>G (p.Ser2006Ala)
c.5059T>G (p.Ser1687Ala)
c.5050T>G (p.Ser1684Ala)
 gnomAD v4
5g.37048591_37048594delCA2573139688NIPBLc.6679_6682del (p.Val2227IlefsTer2)
c.1-15987_1-15984del (n.1-15987_1-15984del)
c.5935_5938del (p.Val1979IlefsTer2)
c.6481_6484del (p.Val2161IlefsTer2)
c.6298_6301del (p.Val2100IlefsTer2)
c.6019_6022del (p.Val2007IlefsTer2)
c.5062_5065del (p.Val1688IlefsTer2)
c.5053_5056del (p.Val1685IlefsTer2)
 ClinVar dbSNP
5g.37048589C>ACA359508298NIPBLc.6677C>A (p.Ser2226Ter)
c.1-15989C>A (n.1-15989C>A)
c.5933C>A (p.Ser1978Ter)
c.6479C>A (p.Ser2160Ter)
c.6296C>A (p.Ser2099Ter)
c.6017C>A (p.Ser2006Ter)
c.5060C>A (p.Ser1687Ter)
c.5051C>A (p.Ser1684Ter)
 gnomAD v4
5g.37048589C>GCA359508300NIPBLc.6677C>G (p.Ser2226Ter)
c.1-15989C>G (n.1-15989C>G)
c.5933C>G (p.Ser1978Ter)
c.6479C>G (p.Ser2160Ter)
c.6296C>G (p.Ser2099Ter)
c.6017C>G (p.Ser2006Ter)
c.5060C>G (p.Ser1687Ter)
c.5051C>G (p.Ser1684Ter)
5g.37048589C>TCA359508301NIPBLc.6677C>T (p.Ser2226Leu)
c.1-15989C>T (n.1-15989C>T)
c.5933C>T (p.Ser1978Leu)
c.6479C>T (p.Ser2160Leu)
c.6296C>T (p.Ser2099Leu)
c.6017C>T (p.Ser2006Leu)
c.5060C>T (p.Ser1687Leu)
c.5051C>T (p.Ser1684Leu)
5g.37048590A=CA1539567649NIPBLc.6678A= (p.Ser2226=)
c.1-15988A= (n.1-15988A=)
c.5934A= (p.Ser1978=)
c.6480A= (p.Ser2160=)
c.6297A= (p.Ser2099=)
c.6018A= (p.Ser2006=)
c.5061A= (p.Ser1687=)
c.5052A= (p.Ser1684=)
5g.37048590A>CCA443907125NIPBLc.6678A>C (p.Ser2226=)
c.1-15988A>C (n.1-15988A>C)
c.5934A>C (p.Ser1978=)
c.6480A>C (p.Ser2160=)
c.6297A>C (p.Ser2099=)
c.6018A>C (p.Ser2006=)
c.5061A>C (p.Ser1687=)
c.5052A>C (p.Ser1684=)
5g.37048590A>GCA443907126NIPBLc.6678A>G (p.Ser2226=)
c.1-15988A>G (n.1-15988A>G)
c.5934A>G (p.Ser1978=)
c.6480A>G (p.Ser2160=)
c.6297A>G (p.Ser2099=)
c.6018A>G (p.Ser2006=)
c.5061A>G (p.Ser1687=)
c.5052A>G (p.Ser1684=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
5g.37048590A>TCA443907127NIPBLc.6678A>T (p.Ser2226=)
c.1-15988A>T (n.1-15988A>T)
c.5934A>T (p.Ser1978=)
c.6480A>T (p.Ser2160=)
c.6297A>T (p.Ser2099=)
c.6018A>T (p.Ser2006=)
c.5061A>T (p.Ser1687=)
c.5052A>T (p.Ser1684=)
5g.37048591G>ACA359508307NIPBLc.6679G>A (p.Val2227Ile)
c.1-15987G>A (n.1-15987G>A)
c.5935G>A (p.Val1979Ile)
c.6481G>A (p.Val2161Ile)
c.6298G>A (p.Val2100Ile)
c.6019G>A (p.Val2007Ile)
c.5062G>A (p.Val1688Ile)
c.5053G>A (p.Val1685Ile)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.37048591G>CCA359508305NIPBLc.6679G>C (p.Val2227Leu)
c.1-15987G>C (n.1-15987G>C)
c.5935G>C (p.Val1979Leu)
c.6481G>C (p.Val2161Leu)
c.6298G>C (p.Val2100Leu)
c.6019G>C (p.Val2007Leu)
c.5062G>C (p.Val1688Leu)
c.5053G>C (p.Val1685Leu)
5g.37048591G=CA1539567651NIPBLc.6679G= (p.Val2227=)
c.1-15987G= (n.1-15987G=)
c.5935G= (p.Val1979=)
c.6481G= (p.Val2161=)
c.6298G= (p.Val2100=)
c.6019G= (p.Val2007=)
c.5062G= (p.Val1688=)
c.5053G= (p.Val1685=)
5g.37048591G>TCA359508303NIPBLc.6679G>T (p.Val2227Phe)
c.1-15987G>T (n.1-15987G>T)
c.5935G>T (p.Val1979Phe)
c.6481G>T (p.Val2161Phe)
c.6298G>T (p.Val2100Phe)
c.6019G>T (p.Val2007Phe)
c.5062G>T (p.Val1688Phe)
c.5053G>T (p.Val1685Phe)
5g.37048592T>ACA359508310NIPBLc.6680T>A (p.Val2227Asp)
c.1-15986T>A (n.1-15986T>A)
c.5936T>A (p.Val1979Asp)
c.6482T>A (p.Val2161Asp)
c.6299T>A (p.Val2100Asp)
c.6020T>A (p.Val2007Asp)
c.5063T>A (p.Val1688Asp)
c.5054T>A (p.Val1685Asp)
5g.37048592T>CCA359508311NIPBLc.6680T>C (p.Val2227Ala)
c.1-15986T>C (n.1-15986T>C)
c.5936T>C (p.Val1979Ala)
c.6482T>C (p.Val2161Ala)
c.6299T>C (p.Val2100Ala)
c.6020T>C (p.Val2007Ala)
c.5063T>C (p.Val1688Ala)
c.5054T>C (p.Val1685Ala)
 gnomAD v4
5g.37048592T>GCA359508313NIPBLc.6680T>G (p.Val2227Gly)
c.1-15986T>G (n.1-15986T>G)
c.5936T>G (p.Val1979Gly)
c.6482T>G (p.Val2161Gly)
c.6299T>G (p.Val2100Gly)
c.6020T>G (p.Val2007Gly)
c.5063T>G (p.Val1688Gly)
c.5054T>G (p.Val1685Gly)
5g.37048593C>ACA443907128NIPBLc.6681C>A (p.Val2227=)
c.1-15985C>A (n.1-15985C>A)
c.5937C>A (p.Val1979=)
c.6483C>A (p.Val2161=)
c.6300C>A (p.Val2100=)
c.6021C>A (p.Val2007=)
c.5064C>A (p.Val1688=)
c.5055C>A (p.Val1685=)
 gnomAD v4
5g.37048593C>GCA443907130NIPBLc.6681C>G (p.Val2227=)
c.1-15985C>G (n.1-15985C>G)
c.5937C>G (p.Val1979=)
c.6483C>G (p.Val2161=)
c.6300C>G (p.Val2100=)
c.6021C>G (p.Val2007=)
c.5064C>G (p.Val1688=)
c.5055C>G (p.Val1685=)
5g.37048593C>TCA443907129NIPBLc.6681C>T (p.Val2227=)
c.1-15985C>T (n.1-15985C>T)
c.5937C>T (p.Val1979=)
c.6483C>T (p.Val2161=)
c.6300C>T (p.Val2100=)
c.6021C>T (p.Val2007=)
c.5064C>T (p.Val1688=)
c.5055C>T (p.Val1685=)
5g.37048594A>CCA359508316NIPBLc.6682A>C (p.Asn2228His)
c.1-15984A>C (n.1-15984A>C)
c.5938A>C (p.Asn1980His)
c.6484A>C (p.Asn2162His)
c.6301A>C (p.Asn2101His)
c.6022A>C (p.Asn2008His)
c.5065A>C (p.Asn1689His)
c.5056A>C (p.Asn1686His)
5g.37048594A>GCA359508318NIPBLc.6682A>G (p.Asn2228Asp)
c.1-15984A>G (n.1-15984A>G)
c.5938A>G (p.Asn1980Asp)
c.6484A>G (p.Asn2162Asp)
c.6301A>G (p.Asn2101Asp)
c.6022A>G (p.Asn2008Asp)
c.5065A>G (p.Asn1689Asp)
c.5056A>G (p.Asn1686Asp)
5g.37048594A>TCA359508320NIPBLc.6682A>T (p.Asn2228Tyr)
c.1-15984A>T (n.1-15984A>T)
c.5938A>T (p.Asn1980Tyr)
c.6484A>T (p.Asn2162Tyr)
c.6301A>T (p.Asn2101Tyr)
c.6022A>T (p.Asn2008Tyr)
c.5065A>T (p.Asn1689Tyr)
c.5056A>T (p.Asn1686Tyr)
5g.37048595A>CCA359508324NIPBLc.6683A>C (p.Asn2228Thr)
c.1-15983A>C (n.1-15983A>C)
c.5939A>C (p.Asn1980Thr)
c.6485A>C (p.Asn2162Thr)
c.6302A>C (p.Asn2101Thr)
c.6023A>C (p.Asn2008Thr)
c.5066A>C (p.Asn1689Thr)
c.5057A>C (p.Asn1686Thr)
5g.37048595A>GCA359508321NIPBLc.6683A>G (p.Asn2228Ser)
c.1-15983A>G (n.1-15983A>G)
c.5939A>G (p.Asn1980Ser)
c.6485A>G (p.Asn2162Ser)
c.6302A>G (p.Asn2101Ser)
c.6023A>G (p.Asn2008Ser)
c.5066A>G (p.Asn1689Ser)
c.5057A>G (p.Asn1686Ser)
 gnomAD v4
5g.37048595A>TCA359508323NIPBLc.6683A>T (p.Asn2228Ile)
c.1-15983A>T (n.1-15983A>T)
c.5939A>T (p.Asn1980Ile)
c.6485A>T (p.Asn2162Ile)
c.6302A>T (p.Asn2101Ile)
c.6023A>T (p.Asn2008Ile)
c.5066A>T (p.Asn1689Ile)
c.5057A>T (p.Asn1686Ile)
5g.37048596T>ACA359508326NIPBLc.6684T>A (p.Asn2228Lys)
c.1-15982T>A (n.1-15982T>A)
c.5940T>A (p.Asn1980Lys)
c.6486T>A (p.Asn2162Lys)
c.6303T>A (p.Asn2101Lys)
c.6024T>A (p.Asn2008Lys)
c.5067T>A (p.Asn1689Lys)
c.5058T>A (p.Asn1686Lys)
5g.37048596T>CCA3237045NIPBLc.6684T>C (p.Asn2228=)
c.1-15982T>C (n.1-15982T>C)
c.5940T>C (p.Asn1980=)
c.6486T>C (p.Asn2162=)
c.6303T>C (p.Asn2101=)
c.6024T>C (p.Asn2008=)
c.5067T>C (p.Asn1689=)
c.5058T>C (p.Asn1686=)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.37048596T>GCA359508331NIPBLc.6684T>G (p.Asn2228Lys)
c.1-15982T>G (n.1-15982T>G)
c.5940T>G (p.Asn1980Lys)
c.6486T>G (p.Asn2162Lys)
c.6303T>G (p.Asn2101Lys)
c.6024T>G (p.Asn2008Lys)
c.5067T>G (p.Asn1689Lys)
c.5058T>G (p.Asn1686Lys)
5g.37048596T=CA1539567655NIPBLc.6684T= (p.Asn2228=)
c.1-15982T= (n.1-15982T=)
c.5940T= (p.Asn1980=)
c.6486T= (p.Asn2162=)
c.6303T= (p.Asn2101=)
c.6024T= (p.Asn2008=)
c.5067T= (p.Asn1689=)
c.5058T= (p.Asn1686=)
5g.37048597T>ACA359508334NIPBLc.6685T>A (p.Leu2229Ile)
c.1-15981T>A (n.1-15981T>A)
c.5941T>A (p.Leu1981Ile)
c.6487T>A (p.Leu2163Ile)
c.6304T>A (p.Leu2102Ile)
c.6025T>A (p.Leu2009Ile)
c.5068T>A (p.Leu1690Ile)
c.5059T>A (p.Leu1687Ile)
5g.37048597T>CCA443907131NIPBLc.6685T>C (p.Leu2229=)
c.1-15981T>C (n.1-15981T>C)
c.5941T>C (p.Leu1981=)
c.6487T>C (p.Leu2163=)
c.6304T>C (p.Leu2102=)
c.6025T>C (p.Leu2009=)
c.5068T>C (p.Leu1690=)
c.5059T>C (p.Leu1687=)
5g.37048597T>GCA359508336NIPBLc.6685T>G (p.Leu2229Val)
c.1-15981T>G (n.1-15981T>G)
c.5941T>G (p.Leu1981Val)
c.6487T>G (p.Leu2163Val)
c.6304T>G (p.Leu2102Val)
c.6025T>G (p.Leu2009Val)
c.5068T>G (p.Leu1690Val)
c.5059T>G (p.Leu1687Val)
5g.37048598T>ACA359508338NIPBLc.6686T>A (p.Leu2229Ter)
c.1-15980T>A (n.1-15980T>A)
c.5942T>A (p.Leu1981Ter)
c.6488T>A (p.Leu2163Ter)
c.6305T>A (p.Leu2102Ter)
c.6026T>A (p.Leu2009Ter)
c.5069T>A (p.Leu1690Ter)
c.5060T>A (p.Leu1687Ter)
5g.37048598T>CCA359508346NIPBLc.6686T>C (p.Leu2229Ser)
c.1-15980T>C (n.1-15980T>C)
c.5942T>C (p.Leu1981Ser)
c.6488T>C (p.Leu2163Ser)
c.6305T>C (p.Leu2102Ser)
c.6026T>C (p.Leu2009Ser)
c.5069T>C (p.Leu1690Ser)
c.5060T>C (p.Leu1687Ser)
 gnomAD v4
5g.37048598T>GCA359508343NIPBLc.6686T>G (p.Leu2229Ter)
c.1-15980T>G (n.1-15980T>G)
c.5942T>G (p.Leu1981Ter)
c.6488T>G (p.Leu2163Ter)
c.6305T>G (p.Leu2102Ter)
c.6026T>G (p.Leu2009Ter)
c.5069T>G (p.Leu1690Ter)
c.5060T>G (p.Leu1687Ter)
5g.37048599A>CCA359508355NIPBLc.6687A>C (p.Leu2229Phe)
c.1-15979A>C (n.1-15979A>C)
c.5943A>C (p.Leu1981Phe)
c.6489A>C (p.Leu2163Phe)
c.6306A>C (p.Leu2102Phe)
c.6027A>C (p.Leu2009Phe)
c.5070A>C (p.Leu1690Phe)
c.5061A>C (p.Leu1687Phe)
5g.37048599A>GCA443907132NIPBLc.6687A>G (p.Leu2229=)
c.1-15979A>G (n.1-15979A>G)
c.5943A>G (p.Leu1981=)
c.6489A>G (p.Leu2163=)
c.6306A>G (p.Leu2102=)
c.6027A>G (p.Leu2009=)
c.5070A>G (p.Leu1690=)
c.5061A>G (p.Leu1687=)
 gnomAD v4
5g.37048599A>TCA359508358NIPBLc.6687A>T (p.Leu2229Phe)
c.1-15979A>T (n.1-15979A>T)
c.5943A>T (p.Leu1981Phe)
c.6489A>T (p.Leu2163Phe)
c.6306A>T (p.Leu2102Phe)
c.6027A>T (p.Leu2009Phe)
c.5070A>T (p.Leu1690Phe)
c.5061A>T (p.Leu1687Phe)
5g.37048603delCA2673582271NIPBLc.6691del (p.Ile2231TyrfsTer4)
c.1-15975del (n.1-15975del)
c.5947del (p.Ile1983TyrfsTer4)
c.6493del (p.Ile2165TyrfsTer4)
c.6310del (p.Ile2104TyrfsTer4)
c.6031del (p.Ile2011TyrfsTer4)
c.5074del (p.Ile1692TyrfsTer4)
c.5065del (p.Ile1689TyrfsTer4)
 gnomAD v4
5g.37048600A>CCA359508360NIPBLc.6688A>C (p.Lys2230Gln)
c.1-15978A>C (n.1-15978A>C)
c.5944A>C (p.Lys1982Gln)
c.6490A>C (p.Lys2164Gln)
c.6307A>C (p.Lys2103Gln)
c.6028A>C (p.Lys2010Gln)
c.5071A>C (p.Lys1691Gln)
c.5062A>C (p.Lys1688Gln)
5g.37048600A>GCA359508363NIPBLc.6688A>G (p.Lys2230Glu)
c.1-15978A>G (n.1-15978A>G)
c.5944A>G (p.Lys1982Glu)
c.6490A>G (p.Lys2164Glu)
c.6307A>G (p.Lys2103Glu)
c.6028A>G (p.Lys2010Glu)
c.5071A>G (p.Lys1691Glu)
c.5062A>G (p.Lys1688Glu)
 COSMIC COSMIC
5g.37048600A>TCA359508367NIPBLc.6688A>T (p.Lys2230Ter)
c.1-15978A>T (n.1-15978A>T)
c.5944A>T (p.Lys1982Ter)
c.6490A>T (p.Lys2164Ter)
c.6307A>T (p.Lys2103Ter)
c.6028A>T (p.Lys2010Ter)
c.5071A>T (p.Lys1691Ter)
c.5062A>T (p.Lys1688Ter)
5g.37048601A>CCA359508370NIPBLc.6689A>C (p.Lys2230Thr)
c.1-15977A>C (n.1-15977A>C)
c.5945A>C (p.Lys1982Thr)
c.6491A>C (p.Lys2164Thr)
c.6308A>C (p.Lys2103Thr)
c.6029A>C (p.Lys2010Thr)
c.5072A>C (p.Lys1691Thr)
c.5063A>C (p.Lys1688Thr)
5g.37048601A>GCA359508373NIPBLc.6689A>G (p.Lys2230Arg)
c.1-15977A>G (n.1-15977A>G)
c.5945A>G (p.Lys1982Arg)
c.6491A>G (p.Lys2164Arg)
c.6308A>G (p.Lys2103Arg)
c.6029A>G (p.Lys2010Arg)
c.5072A>G (p.Lys1691Arg)
c.5063A>G (p.Lys1688Arg)
5g.37048601A>TCA359508375NIPBLc.6689A>T (p.Lys2230Ile)
c.1-15977A>T (n.1-15977A>T)
c.5945A>T (p.Lys1982Ile)
c.6491A>T (p.Lys2164Ile)
c.6308A>T (p.Lys2103Ile)
c.6029A>T (p.Lys2010Ile)
c.5072A>T (p.Lys1691Ile)
c.5063A>T (p.Lys1688Ile)
5g.37048602A>CCA359508376NIPBLc.6690A>C (p.Lys2230Asn)
c.1-15976A>C (n.1-15976A>C)
c.5946A>C (p.Lys1982Asn)
c.6492A>C (p.Lys2164Asn)
c.6309A>C (p.Lys2103Asn)
c.6030A>C (p.Lys2010Asn)
c.5073A>C (p.Lys1691Asn)
c.5064A>C (p.Lys1688Asn)
5g.37048602A>GCA443907133NIPBLc.6690A>G (p.Lys2230=)
c.1-15976A>G (n.1-15976A>G)
c.5946A>G (p.Lys1982=)
c.6492A>G (p.Lys2164=)
c.6309A>G (p.Lys2103=)
c.6030A>G (p.Lys2010=)
c.5073A>G (p.Lys1691=)
c.5064A>G (p.Lys1688=)
5g.37048602A>TCA359508378NIPBLc.6690A>T (p.Lys2230Asn)
c.1-15976A>T (n.1-15976A>T)
c.5946A>T (p.Lys1982Asn)
c.6492A>T (p.Lys2164Asn)
c.6309A>T (p.Lys2103Asn)
c.6030A>T (p.Lys2010Asn)
c.5073A>T (p.Lys1691Asn)
c.5064A>T (p.Lys1688Asn)
5g.37048603A>CCA359508384NIPBLc.6691A>C (p.Ile2231Leu)
c.1-15975A>C (n.1-15975A>C)
c.5947A>C (p.Ile1983Leu)
c.6493A>C (p.Ile2165Leu)
c.6310A>C (p.Ile2104Leu)
c.6031A>C (p.Ile2011Leu)
c.5074A>C (p.Ile1692Leu)
c.5065A>C (p.Ile1689Leu)
5g.37048603A>GCA359508382NIPBLc.6691A>G (p.Ile2231Val)
c.1-15975A>G (n.1-15975A>G)
c.5947A>G (p.Ile1983Val)
c.6493A>G (p.Ile2165Val)
c.6310A>G (p.Ile2104Val)
c.6031A>G (p.Ile2011Val)
c.5074A>G (p.Ile1692Val)
c.5065A>G (p.Ile1689Val)
 gnomAD v4
5g.37048603A>TCA359508380NIPBLc.6691A>T (p.Ile2231Leu)
c.1-15975A>T (n.1-15975A>T)
c.5947A>T (p.Ile1983Leu)
c.6493A>T (p.Ile2165Leu)
c.6310A>T (p.Ile2104Leu)
c.6031A>T (p.Ile2011Leu)
c.5074A>T (p.Ile1692Leu)
c.5065A>T (p.Ile1689Leu)
5g.37048604T>ACA359508387NIPBLc.6692T>A (p.Ile2231Lys)
c.1-15974T>A (n.1-15974T>A)
c.5948T>A (p.Ile1983Lys)
c.6494T>A (p.Ile2165Lys)
c.6311T>A (p.Ile2104Lys)
c.6032T>A (p.Ile2011Lys)
c.5075T>A (p.Ile1692Lys)
c.5066T>A (p.Ile1689Lys)
5g.37048604T>CCA359508393NIPBLc.6692T>C (p.Ile2231Thr)
c.1-15974T>C (n.1-15974T>C)
c.5948T>C (p.Ile1983Thr)
c.6494T>C (p.Ile2165Thr)
c.6311T>C (p.Ile2104Thr)
c.6032T>C (p.Ile2011Thr)
c.5075T>C (p.Ile1692Thr)
c.5066T>C (p.Ile1689Thr)
 dbSNP gnomAD v2 gnomAD v4
5g.37048604T>GCA359508391NIPBLc.6692T>G (p.Ile2231Arg)
c.1-15974T>G (n.1-15974T>G)
c.5948T>G (p.Ile1983Arg)
c.6494T>G (p.Ile2165Arg)
c.6311T>G (p.Ile2104Arg)
c.6032T>G (p.Ile2011Arg)
c.5075T>G (p.Ile1692Arg)
c.5066T>G (p.Ile1689Arg)
5g.37048604T=CA1539567658NIPBLc.6692T= (p.Ile2231=)
c.1-15974T= (n.1-15974T=)
c.5948T= (p.Ile1983=)
c.6494T= (p.Ile2165=)
c.6311T= (p.Ile2104=)
c.6032T= (p.Ile2011=)
c.5075T= (p.Ile1692=)
c.5066T= (p.Ile1689=)
5g.37048605A>CCA443907134NIPBLc.6693A>C (p.Ile2231=)
c.1-15973A>C (n.1-15973A>C)
c.5949A>C (p.Ile1983=)
c.6495A>C (p.Ile2165=)
c.6312A>C (p.Ile2104=)
c.6033A>C (p.Ile2011=)
c.5076A>C (p.Ile1692=)
c.5067A>C (p.Ile1689=)
5g.37048605A>GCA359508397NIPBLc.6693A>G (p.Ile2231Met)
c.1-15973A>G (n.1-15973A>G)
c.5949A>G (p.Ile1983Met)
c.6495A>G (p.Ile2165Met)
c.6312A>G (p.Ile2104Met)
c.6033A>G (p.Ile2011Met)
c.5076A>G (p.Ile1692Met)
c.5067A>G (p.Ile1689Met)
5g.37048605A>TCA443907135NIPBLc.6693A>T (p.Ile2231=)
c.1-15973A>T (n.1-15973A>T)
c.5949A>T (p.Ile1983=)
c.6495A>T (p.Ile2165=)
c.6312A>T (p.Ile2104=)
c.6033A>T (p.Ile2011=)
c.5076A>T (p.Ile1692=)
c.5067A>T (p.Ile1689=)
5g.37048606C>ACA359508400NIPBLc.6694C>A (p.Gln2232Lys)
c.1-15972C>A (n.1-15972C>A)
c.5950C>A (p.Gln1984Lys)
c.6496C>A (p.Gln2166Lys)
c.6313C>A (p.Gln2105Lys)
c.6034C>A (p.Gln2012Lys)
c.5077C>A (p.Gln1693Lys)
c.5068C>A (p.Gln1690Lys)
 gnomAD v4
5g.37048606C>GCA359508398NIPBLc.6694C>G (p.Gln2232Glu)
c.1-15972C>G (n.1-15972C>G)
c.5950C>G (p.Gln1984Glu)
c.6496C>G (p.Gln2166Glu)
c.6313C>G (p.Gln2105Glu)
c.6034C>G (p.Gln2012Glu)
c.5077C>G (p.Gln1693Glu)
c.5068C>G (p.Gln1690Glu)
 ClinVar
5g.37048606C>TCA359508399NIPBLc.6694C>T (p.Gln2232Ter)
c.1-15972C>T (n.1-15972C>T)
c.5950C>T (p.Gln1984Ter)
c.6496C>T (p.Gln2166Ter)
c.6313C>T (p.Gln2105Ter)
c.6034C>T (p.Gln2012Ter)
c.5077C>T (p.Gln1693Ter)
c.5068C>T (p.Gln1690Ter)
 COSMIC COSMIC
5g.37048607A>CCA359508401NIPBLc.6695A>C (p.Gln2232Pro)
c.1-15971A>C (n.1-15971A>C)
c.5951A>C (p.Gln1984Pro)
c.6497A>C (p.Gln2166Pro)
c.6314A>C (p.Gln2105Pro)
c.6035A>C (p.Gln2012Pro)
c.5078A>C (p.Gln1693Pro)
c.5069A>C (p.Gln1690Pro)
5g.37048607A>GCA359508402NIPBLc.6695A>G (p.Gln2232Arg)
c.1-15971A>G (n.1-15971A>G)
c.5951A>G (p.Gln1984Arg)
c.6497A>G (p.Gln2166Arg)
c.6314A>G (p.Gln2105Arg)
c.6035A>G (p.Gln2012Arg)
c.5078A>G (p.Gln1693Arg)
c.5069A>G (p.Gln1690Arg)
5g.37048607A>TCA359508404NIPBLc.6695A>T (p.Gln2232Leu)
c.1-15971A>T (n.1-15971A>T)
c.5951A>T (p.Gln1984Leu)
c.6497A>T (p.Gln2166Leu)
c.6314A>T (p.Gln2105Leu)
c.6035A>T (p.Gln2012Leu)
c.5078A>T (p.Gln1693Leu)
c.5069A>T (p.Gln1690Leu)
5g.37048608A>CCA359508406NIPBLc.6696A>C (p.Gln2232His)
c.1-15970A>C (n.1-15970A>C)
c.5952A>C (p.Gln1984His)
c.6498A>C (p.Gln2166His)
c.6315A>C (p.Gln2105His)
c.6036A>C (p.Gln2012His)
c.5079A>C (p.Gln1693His)
c.5070A>C (p.Gln1690His)
5g.37048608A>GCA443907136NIPBLc.6696A>G (p.Gln2232=)
c.1-15970A>G (n.1-15970A>G)
c.5952A>G (p.Gln1984=)
c.6498A>G (p.Gln2166=)
c.6315A>G (p.Gln2105=)
c.6036A>G (p.Gln2012=)
c.5079A>G (p.Gln1693=)
c.5070A>G (p.Gln1690=)
5g.37048608A>TCA359508407NIPBLc.6696A>T (p.Gln2232His)
c.1-15970A>T (n.1-15970A>T)
c.5952A>T (p.Gln1984His)
c.6498A>T (p.Gln2166His)
c.6315A>T (p.Gln2105His)
c.6036A>T (p.Gln2012His)
c.5079A>T (p.Gln1693His)
c.5070A>T (p.Gln1690His)
5g.37048609G>ACA359508409NIPBLc.6697G>A (p.Val2233Met)
c.1-15969G>A (n.1-15969G>A)
c.5953G>A (p.Val1985Met)
c.6499G>A (p.Val2167Met)
c.6316G>A (p.Val2106Met)
c.6037G>A (p.Val2013Met)
c.5080G>A (p.Val1694Met)
c.5071G>A (p.Val1691Met)
 ClinVar dbSNP gnomAD v4
5g.37048609G>CCA359508412NIPBLc.6697G>C (p.Val2233Leu)
c.1-15969G>C (n.1-15969G>C)
c.5953G>C (p.Val1985Leu)
c.6499G>C (p.Val2167Leu)
c.6316G>C (p.Val2106Leu)
c.6037G>C (p.Val2013Leu)
c.5080G>C (p.Val1694Leu)
c.5071G>C (p.Val1691Leu)
5g.37048609G=CA1539567667NIPBLc.6697G= (p.Val2233=)
c.1-15969G= (n.1-15969G=)
c.5953G= (p.Val1985=)
c.6499G= (p.Val2167=)
c.6316G= (p.Val2106=)
c.6037G= (p.Val2013=)
c.5080G= (p.Val1694=)
c.5071G= (p.Val1691=)
5g.37048609G>TCA359508415NIPBLc.6697G>T (p.Val2233Leu)
c.1-15969G>T (n.1-15969G>T)
c.5953G>T (p.Val1985Leu)
c.6499G>T (p.Val2167Leu)
c.6316G>T (p.Val2106Leu)
c.6037G>T (p.Val2013Leu)
c.5080G>T (p.Val1694Leu)
c.5071G>T (p.Val1691Leu)
5g.37048610T>ACA359508417NIPBLc.6698T>A (p.Val2233Glu)
c.1-15968T>A (n.1-15968T>A)
c.5954T>A (p.Val1985Glu)
c.6500T>A (p.Val2167Glu)
c.6317T>A (p.Val2106Glu)
c.6038T>A (p.Val2013Glu)
c.5081T>A (p.Val1694Glu)
c.5072T>A (p.Val1691Glu)
5g.37048610T>CCA359508419NIPBLc.6698T>C (p.Val2233Ala)
c.1-15968T>C (n.1-15968T>C)
c.5954T>C (p.Val1985Ala)
c.6500T>C (p.Val2167Ala)
c.6317T>C (p.Val2106Ala)
c.6038T>C (p.Val2013Ala)
c.5081T>C (p.Val1694Ala)
c.5072T>C (p.Val1691Ala)
5g.37048610T>GCA359508422NIPBLc.6698T>G (p.Val2233Gly)
c.1-15968T>G (n.1-15968T>G)
c.5954T>G (p.Val1985Gly)
c.6500T>G (p.Val2167Gly)
c.6317T>G (p.Val2106Gly)
c.6038T>G (p.Val2013Gly)
c.5081T>G (p.Val1694Gly)
c.5072T>G (p.Val1691Gly)
5g.37048611G>ACA443907137NIPBLc.6699G>A (p.Val2233=)
c.1-15967G>A (n.1-15967G>A)
c.5955G>A (p.Val1985=)
c.6501G>A (p.Val2167=)
c.6318G>A (p.Val2106=)
c.6039G>A (p.Val2013=)
c.5082G>A (p.Val1694=)
c.5073G>A (p.Val1691=)
5g.37048611G>CCA443907138NIPBLc.6699G>C (p.Val2233=)
c.1-15967G>C (n.1-15967G>C)
c.5955G>C (p.Val1985=)
c.6501G>C (p.Val2167=)
c.6318G>C (p.Val2106=)
c.6039G>C (p.Val2013=)
c.5082G>C (p.Val1694=)
c.5073G>C (p.Val1691=)
5g.37048611G>TCA443907139NIPBLc.6699G>T (p.Val2233=)
c.1-15967G>T (n.1-15967G>T)
c.5955G>T (p.Val1985=)
c.6501G>T (p.Val2167=)
c.6318G>T (p.Val2106=)
c.6039G>T (p.Val2013=)
c.5082G>T (p.Val1694=)
c.5073G>T (p.Val1691=)
5g.37048612T>ACA359508428NIPBLc.6700T>A (p.Leu2234Ile)
c.1-15966T>A (n.1-15966T>A)
c.5956T>A (p.Leu1986Ile)
c.6502T>A (p.Leu2168Ile)
c.6319T>A (p.Leu2107Ile)
c.6040T>A (p.Leu2014Ile)
c.5083T>A (p.Leu1695Ile)
c.5074T>A (p.Leu1692Ile)
5g.37048612T>CCA443907140NIPBLc.6700T>C (p.Leu2234=)
c.1-15966T>C (n.1-15966T>C)
c.5956T>C (p.Leu1986=)
c.6502T>C (p.Leu2168=)
c.6319T>C (p.Leu2107=)
c.6040T>C (p.Leu2014=)
c.5083T>C (p.Leu1695=)
c.5074T>C (p.Leu1692=)
5g.37048612T>GCA359508429NIPBLc.6700T>G (p.Leu2234Val)
c.1-15966T>G (n.1-15966T>G)
c.5956T>G (p.Leu1986Val)
c.6502T>G (p.Leu2168Val)
c.6319T>G (p.Leu2107Val)
c.6040T>G (p.Leu2014Val)
c.5083T>G (p.Leu1695Val)
c.5074T>G (p.Leu1692Val)
5g.37048613T>ACA359508431NIPBLc.6701T>A (p.Leu2234Ter)
c.1-15965T>A (n.1-15965T>A)
c.5957T>A (p.Leu1986Ter)
c.6503T>A (p.Leu2168Ter)
c.6320T>A (p.Leu2107Ter)
c.6041T>A (p.Leu2014Ter)
c.5084T>A (p.Leu1695Ter)
c.5075T>A (p.Leu1692Ter)
5g.37048613T>CCA359508433NIPBLc.6701T>C (p.Leu2234Ser)
c.1-15965T>C (n.1-15965T>C)
c.5957T>C (p.Leu1986Ser)
c.6503T>C (p.Leu2168Ser)
c.6320T>C (p.Leu2107Ser)
c.6041T>C (p.Leu2014Ser)
c.5084T>C (p.Leu1695Ser)
c.5075T>C (p.Leu1692Ser)
5g.37048613T>GCA234390NIPBLc.6701T>G (p.Leu2234Ter)
c.1-15965T>G (n.1-15965T>G)
c.5957T>G (p.Leu1986Ter)
c.6503T>G (p.Leu2168Ter)
c.6320T>G (p.Leu2107Ter)
c.6041T>G (p.Leu2014Ter)
c.5084T>G (p.Leu1695Ter)
c.5075T>G (p.Leu1692Ter)
 ClinVar dbSNP
5g.37048613T=CA1539567677NIPBLc.6701T= (p.Leu2234=)
c.1-15965T= (n.1-15965T=)
c.5957T= (p.Leu1986=)
c.6503T= (p.Leu2168=)
c.6320T= (p.Leu2107=)
c.6041T= (p.Leu2014=)
c.5084T= (p.Leu1695=)
c.5075T= (p.Leu1692=)
5g.37048613_37048614delinsTACA1539567680NIPBLc.6701_6702delinsTA (p.Leu2234=)
c.1-15965_1-15964delinsTA (n.1-15965_1-15964delinsTA)
c.5957_5958delinsTA (p.Leu1986=)
c.6503_6504delinsTA (p.Leu2168=)
c.6320_6321delinsTA (p.Leu2107=)
c.6041_6042delinsTA (p.Leu2014=)
c.5084_5085delinsTA (p.Leu1695=)
c.5075_5076delinsTA (p.Leu1692=)
5g.37048614A>CCA359508439NIPBLc.6702A>C (p.Leu2234Phe)
c.1-15964A>C (n.1-15964A>C)
c.5958A>C (p.Leu1986Phe)
c.6504A>C (p.Leu2168Phe)
c.6321A>C (p.Leu2107Phe)
c.6042A>C (p.Leu2014Phe)
c.5085A>C (p.Leu1695Phe)
c.5076A>C (p.Leu1692Phe)
5g.37048614A>GCA443907141NIPBLc.6702A>G (p.Leu2234=)
c.1-15964A>G (n.1-15964A>G)
c.5958A>G (p.Leu1986=)
c.6504A>G (p.Leu2168=)
c.6321A>G (p.Leu2107=)
c.6042A>G (p.Leu2014=)
c.5085A>G (p.Leu1695=)
c.5076A>G (p.Leu1692=)
 gnomAD v4
5g.37048614A>TCA359508441NIPBLc.6702A>T (p.Leu2234Phe)
c.1-15964A>T (n.1-15964A>T)
c.5958A>T (p.Leu1986Phe)
c.6504A>T (p.Leu2168Phe)
c.6321A>T (p.Leu2107Phe)
c.6042A>T (p.Leu2014Phe)
c.5085A>T (p.Leu1695Phe)
c.5076A>T (p.Leu1692Phe)
5g.37048619dupCA277307NIPBLc.6707dup (p.Asn2236LysfsTer18)
c.1-15959dup (n.1-15959dup)
c.5963dup (p.Asn1988LysfsTer18)
c.6509dup (p.Asn2170LysfsTer18)
c.6326dup (p.Asn2109LysfsTer18)
c.6047dup (p.Asn2016LysfsTer18)
c.5090dup (p.Asn1697LysfsTer18)
c.5081dup (p.Asn1694LysfsTer18)
 ClinVar dbSNP
5g.37048619delCA917452793NIPBLc.6707del (p.Asn2236ThrfsTer29)
c.1-15959del (n.1-15959del)
c.5963del (p.Asn1988ThrfsTer29)
c.6509del (p.Asn2170ThrfsTer29)
c.6326del (p.Asn2109ThrfsTer29)
c.6047del (p.Asn2016ThrfsTer29)
c.5090del (p.Asn1697ThrfsTer29)
c.5081del (p.Asn1694ThrfsTer29)
 dbSNP gnomAD v4
5g.37048617_37048619delCA2499217844NIPBLc.6705_6707del (p.Lys2235del)
c.1-15961_1-15959del (n.1-15961_1-15959del)
c.5961_5963del (p.Lys1987del)
c.6507_6509del (p.Lys2169del)
c.6324_6326del (p.Lys2108del)
c.6045_6047del (p.Lys2015del)
c.5088_5090del (p.Lys1696del)
c.5079_5081del (p.Lys1693del)
 ClinVar dbSNP
5g.37048615A>CCA359508444NIPBLc.6703A>C (p.Lys2235Gln)
c.1-15963A>C (n.1-15963A>C)
c.5959A>C (p.Lys1987Gln)
c.6505A>C (p.Lys2169Gln)
c.6322A>C (p.Lys2108Gln)
c.6043A>C (p.Lys2015Gln)
c.5086A>C (p.Lys1696Gln)
c.5077A>C (p.Lys1693Gln)
5g.37048615A>GCA359508447NIPBLc.6703A>G (p.Lys2235Glu)
c.1-15963A>G (n.1-15963A>G)
c.5959A>G (p.Lys1987Glu)
c.6505A>G (p.Lys2169Glu)
c.6322A>G (p.Lys2108Glu)
c.6043A>G (p.Lys2015Glu)
c.5086A>G (p.Lys1696Glu)
c.5077A>G (p.Lys1693Glu)
 ClinVar
5g.37048615A>TCA359508449NIPBLc.6703A>T (p.Lys2235Ter)
c.1-15963A>T (n.1-15963A>T)
c.5959A>T (p.Lys1987Ter)
c.6505A>T (p.Lys2169Ter)
c.6322A>T (p.Lys2108Ter)
c.6043A>T (p.Lys2015Ter)
c.5086A>T (p.Lys1696Ter)
c.5077A>T (p.Lys1693Ter)
5g.37048616A>CCA359508450NIPBLc.6704A>C (p.Lys2235Thr)
c.1-15962A>C (n.1-15962A>C)
c.5960A>C (p.Lys1987Thr)
c.6506A>C (p.Lys2169Thr)
c.6323A>C (p.Lys2108Thr)
c.6044A>C (p.Lys2015Thr)
c.5087A>C (p.Lys1696Thr)
c.5078A>C (p.Lys1693Thr)
5g.37048616A>GCA359508451NIPBLc.6704A>G (p.Lys2235Arg)
c.1-15962A>G (n.1-15962A>G)
c.5960A>G (p.Lys1987Arg)
c.6506A>G (p.Lys2169Arg)
c.6323A>G (p.Lys2108Arg)
c.6044A>G (p.Lys2015Arg)
c.5087A>G (p.Lys1696Arg)
c.5078A>G (p.Lys1693Arg)
5g.37048616A>TCA359508452NIPBLc.6704A>T (p.Lys2235Ile)
c.1-15962A>T (n.1-15962A>T)
c.5960A>T (p.Lys1987Ile)
c.6506A>T (p.Lys2169Ile)
c.6323A>T (p.Lys2108Ile)
c.6044A>T (p.Lys2015Ile)
c.5087A>T (p.Lys1696Ile)
c.5078A>T (p.Lys1693Ile)
5g.37048617A=CA1539567695NIPBLc.6705A= (p.Lys2235=)
c.1-15961A= (n.1-15961A=)
c.5961A= (p.Lys1987=)
c.6507A= (p.Lys2169=)
c.6324A= (p.Lys2108=)
c.6045A= (p.Lys2015=)
c.5088A= (p.Lys1696=)
c.5079A= (p.Lys1693=)
5g.37048617A>CCA359508454NIPBLc.6705A>C (p.Lys2235Asn)
c.1-15961A>C (n.1-15961A>C)
c.5961A>C (p.Lys1987Asn)
c.6507A>C (p.Lys2169Asn)
c.6324A>C (p.Lys2108Asn)
c.6045A>C (p.Lys2015Asn)
c.5088A>C (p.Lys1696Asn)
c.5079A>C (p.Lys1693Asn)
5g.37048617A>GCA3237046NIPBLc.6705A>G (p.Lys2235=)
c.1-15961A>G (n.1-15961A>G)
c.5961A>G (p.Lys1987=)
c.6507A>G (p.Lys2169=)
c.6324A>G (p.Lys2108=)
c.6045A>G (p.Lys2015=)
c.5088A>G (p.Lys1696=)
c.5079A>G (p.Lys1693=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.37048617A>TCA359508453NIPBLc.6705A>T (p.Lys2235Asn)
c.1-15961A>T (n.1-15961A>T)
c.5961A>T (p.Lys1987Asn)
c.6507A>T (p.Lys2169Asn)
c.6324A>T (p.Lys2108Asn)
c.6045A>T (p.Lys2015Asn)
c.5088A>T (p.Lys1696Asn)
c.5079A>T (p.Lys1693Asn)
5g.37048618A>CCA359508455NIPBLc.6706A>C (p.Asn2236His)
c.1-15960A>C (n.1-15960A>C)
c.5962A>C (p.Asn1988His)
c.6508A>C (p.Asn2170His)
c.6325A>C (p.Asn2109His)
c.6046A>C (p.Asn2016His)
c.5089A>C (p.Asn1697His)
c.5080A>C (p.Asn1694His)
5g.37048618A>GCA359508456NIPBLc.6706A>G (p.Asn2236Asp)
c.1-15960A>G (n.1-15960A>G)
c.5962A>G (p.Asn1988Asp)
c.6508A>G (p.Asn2170Asp)
c.6325A>G (p.Asn2109Asp)
c.6046A>G (p.Asn2016Asp)
c.5089A>G (p.Asn1697Asp)
c.5080A>G (p.Asn1694Asp)
 ClinVar
5g.37048618A>TCA359508458NIPBLc.6706A>T (p.Asn2236Tyr)
c.1-15960A>T (n.1-15960A>T)
c.5962A>T (p.Asn1988Tyr)
c.6508A>T (p.Asn2170Tyr)
c.6325A>T (p.Asn2109Tyr)
c.6046A>T (p.Asn2016Tyr)
c.5089A>T (p.Asn1697Tyr)
c.5080A>T (p.Asn1694Tyr)
5g.37048619A=CA1539567705NIPBLc.6707A= (p.Asn2236=)
c.1-15959A= (n.1-15959A=)
c.5963A= (p.Asn1988=)
c.6509A= (p.Asn2170=)
c.6326A= (p.Asn2109=)
c.6047A= (p.Asn2016=)
c.5090A= (p.Asn1697=)
c.5081A= (p.Asn1694=)
5g.37048619A>CCA359508459NIPBLc.6707A>C (p.Asn2236Thr)
c.1-15959A>C (n.1-15959A>C)
c.5963A>C (p.Asn1988Thr)
c.6509A>C (p.Asn2170Thr)
c.6326A>C (p.Asn2109Thr)
c.6047A>C (p.Asn2016Thr)
c.5090A>C (p.Asn1697Thr)
c.5081A>C (p.Asn1694Thr)
5g.37048619A>GCA359508461NIPBLc.6707A>G (p.Asn2236Ser)
c.1-15959A>G (n.1-15959A>G)
c.5963A>G (p.Asn1988Ser)
c.6509A>G (p.Asn2170Ser)
c.6326A>G (p.Asn2109Ser)
c.6047A>G (p.Asn2016Ser)
c.5090A>G (p.Asn1697Ser)
c.5081A>G (p.Asn1694Ser)
 dbSNP gnomAD v3 gnomAD v4
5g.37048619A>TCA272258NIPBLc.6707A>T (p.Asn2236Ile)
c.1-15959A>T (n.1-15959A>T)
c.5963A>T (p.Asn1988Ile)
c.6509A>T (p.Asn2170Ile)
c.6326A>T (p.Asn2109Ile)
c.6047A>T (p.Asn2016Ile)
c.5090A>T (p.Asn1697Ile)
c.5081A>T (p.Asn1694Ile)
 ClinVar dbSNP
5g.37048620C>ACA359508466NIPBLc.6708C>A (p.Asn2236Lys)
c.1-15958C>A (n.1-15958C>A)
c.5964C>A (p.Asn1988Lys)
c.6510C>A (p.Asn2170Lys)
c.6327C>A (p.Asn2109Lys)
c.6048C>A (p.Asn2016Lys)
c.5091C>A (p.Asn1697Lys)
c.5082C>A (p.Asn1694Lys)
5g.37048620C>GCA359508464NIPBLc.6708C>G (p.Asn2236Lys)
c.1-15958C>G (n.1-15958C>G)
c.5964C>G (p.Asn1988Lys)
c.6510C>G (p.Asn2170Lys)
c.6327C>G (p.Asn2109Lys)
c.6048C>G (p.Asn2016Lys)
c.5091C>G (p.Asn1697Lys)
c.5082C>G (p.Asn1694Lys)
5g.37048620C>TCA443907142NIPBLc.6708C>T (p.Asn2236=)
c.1-15958C>T (n.1-15958C>T)
c.5964C>T (p.Asn1988=)
c.6510C>T (p.Asn2170=)
c.6327C>T (p.Asn2109=)
c.6048C>T (p.Asn2016=)
c.5091C>T (p.Asn1697=)
c.5082C>T (p.Asn1694=)
5g.37048621C>ACA359508468NIPBLc.6709C>A (p.Leu2237Ile)
c.1-15957C>A (n.1-15957C>A)
c.5965C>A (p.Leu1989Ile)
c.6511C>A (p.Leu2171Ile)
c.6328C>A (p.Leu2110Ile)
c.6049C>A (p.Leu2017Ile)
c.5092C>A (p.Leu1698Ile)
c.5083C>A (p.Leu1695Ile)
5g.37048621C>GCA359508470NIPBLc.6709C>G (p.Leu2237Val)
c.1-15957C>G (n.1-15957C>G)
c.5965C>G (p.Leu1989Val)
c.6511C>G (p.Leu2171Val)
c.6328C>G (p.Leu2110Val)
c.6049C>G (p.Leu2017Val)
c.5092C>G (p.Leu1698Val)
c.5083C>G (p.Leu1695Val)
5g.37048621C>TCA359508471NIPBLc.6709C>T (p.Leu2237Phe)
c.1-15957C>T (n.1-15957C>T)
c.5965C>T (p.Leu1989Phe)
c.6511C>T (p.Leu2171Phe)
c.6328C>T (p.Leu2110Phe)
c.6049C>T (p.Leu2017Phe)
c.5092C>T (p.Leu1698Phe)
c.5083C>T (p.Leu1695Phe)
 COSMIC
5g.37048622T>ACA359508473NIPBLc.6710T>A (p.Leu2237His)
c.1-15956T>A (n.1-15956T>A)
c.5966T>A (p.Leu1989His)
c.6512T>A (p.Leu2171His)
c.6329T>A (p.Leu2110His)
c.6050T>A (p.Leu2017His)
c.5093T>A (p.Leu1698His)
c.5084T>A (p.Leu1695His)
5g.37048622T>CCA359508475NIPBLc.6710T>C (p.Leu2237Pro)
c.1-15956T>C (n.1-15956T>C)
c.5966T>C (p.Leu1989Pro)
c.6512T>C (p.Leu2171Pro)
c.6329T>C (p.Leu2110Pro)
c.6050T>C (p.Leu2017Pro)
c.5093T>C (p.Leu1698Pro)
c.5084T>C (p.Leu1695Pro)
5g.37048622T>GCA359508477NIPBLc.6710T>G (p.Leu2237Arg)
c.1-15956T>G (n.1-15956T>G)
c.5966T>G (p.Leu1989Arg)
c.6512T>G (p.Leu2171Arg)
c.6329T>G (p.Leu2110Arg)
c.6050T>G (p.Leu2017Arg)
c.5093T>G (p.Leu1698Arg)
c.5084T>G (p.Leu1695Arg)
5g.37048622_37048623delinsTCCA1539567714NIPBLc.6710_6711delinsTC (p.Leu2237=)
c.1-15956_1-15955delinsTC (n.1-15956_1-15955delinsTC)
c.5966_5967delinsTC (p.Leu1989=)
c.6512_6513delinsTC (p.Leu2171=)
c.6329_6330delinsTC (p.Leu2110=)
c.6050_6051delinsTC (p.Leu2017=)
c.5093_5094delinsTC (p.Leu1698=)
c.5084_5085delinsTC (p.Leu1695=)
5g.37048623C>ACA443907143NIPBLc.6711C>A (p.Leu2237=)
c.1-15955C>A (n.1-15955C>A)
c.5967C>A (p.Leu1989=)
c.6513C>A (p.Leu2171=)
c.6330C>A (p.Leu2110=)
c.6051C>A (p.Leu2017=)
c.5094C>A (p.Leu1698=)
c.5085C>A (p.Leu1695=)
5g.37048623C>GCA443907144NIPBLc.6711C>G (p.Leu2237=)
c.1-15955C>G (n.1-15955C>G)
c.5967C>G (p.Leu1989=)
c.6513C>G (p.Leu2171=)
c.6330C>G (p.Leu2110=)
c.6051C>G (p.Leu2017=)
c.5094C>G (p.Leu1698=)
c.5085C>G (p.Leu1695=)
5g.37048623C>TCA443907145NIPBLc.6711C>T (p.Leu2237=)
c.1-15955C>T (n.1-15955C>T)
c.5967C>T (p.Leu1989=)
c.6513C>T (p.Leu2171=)
c.6330C>T (p.Leu2110=)
c.6051C>T (p.Leu2017=)
c.5094C>T (p.Leu1698=)
c.5085C>T (p.Leu1695=)
5g.37048624delCA658657442NIPBLc.6712del (p.Gln2238ArgfsTer27)
c.1-15954del (n.1-15954del)
c.5968del (p.Gln1990ArgfsTer27)
c.6514del (p.Gln2172ArgfsTer27)
c.6331del (p.Gln2111ArgfsTer27)
c.6052del (p.Gln2018ArgfsTer27)
c.5095del (p.Gln1699ArgfsTer27)
c.5086del (p.Gln1696ArgfsTer27)
 ClinVar dbSNP
5g.37048624C>ACA359508479NIPBLc.6712C>A (p.Gln2238Lys)
c.1-15954C>A (n.1-15954C>A)
c.5968C>A (p.Gln1990Lys)
c.6514C>A (p.Gln2172Lys)
c.6331C>A (p.Gln2111Lys)
c.6052C>A (p.Gln2018Lys)
c.5095C>A (p.Gln1699Lys)
c.5086C>A (p.Gln1696Lys)
 gnomAD v4
5g.37048624C>GCA359508483NIPBLc.6712C>G (p.Gln2238Glu)
c.1-15954C>G (n.1-15954C>G)
c.5968C>G (p.Gln1990Glu)
c.6514C>G (p.Gln2172Glu)
c.6331C>G (p.Gln2111Glu)
c.6052C>G (p.Gln2018Glu)
c.5095C>G (p.Gln1699Glu)
c.5086C>G (p.Gln1696Glu)
5g.37048624C>TCA359508481NIPBLc.6712C>T (p.Gln2238Ter)
c.1-15954C>T (n.1-15954C>T)
c.5968C>T (p.Gln1990Ter)
c.6514C>T (p.Gln2172Ter)
c.6331C>T (p.Gln2111Ter)
c.6052C>T (p.Gln2018Ter)
c.5095C>T (p.Gln1699Ter)
c.5086C>T (p.Gln1696Ter)
5g.37048625A>CCA359508485NIPBLc.6713A>C (p.Gln2238Pro)
c.1-15953A>C (n.1-15953A>C)
c.5969A>C (p.Gln1990Pro)
c.6515A>C (p.Gln2172Pro)
c.6332A>C (p.Gln2111Pro)
c.6053A>C (p.Gln2018Pro)
c.5096A>C (p.Gln1699Pro)
c.5087A>C (p.Gln1696Pro)
5g.37048625A>GCA359508487NIPBLc.6713A>G (p.Gln2238Arg)
c.1-15953A>G (n.1-15953A>G)
c.5969A>G (p.Gln1990Arg)
c.6515A>G (p.Gln2172Arg)
c.6332A>G (p.Gln2111Arg)
c.6053A>G (p.Gln2018Arg)
c.5096A>G (p.Gln1699Arg)
c.5087A>G (p.Gln1696Arg)
5g.37048625A>TCA359508489NIPBLc.6713A>T (p.Gln2238Leu)
c.1-15953A>T (n.1-15953A>T)
c.5969A>T (p.Gln1990Leu)
c.6515A>T (p.Gln2172Leu)
c.6332A>T (p.Gln2111Leu)
c.6053A>T (p.Gln2018Leu)
c.5096A>T (p.Gln1699Leu)
c.5087A>T (p.Gln1696Leu)
5g.37048626G>ACA443907146NIPBLc.6714G>A (p.Gln2238=)
c.1-15952G>A (n.1-15952G>A)
c.5970G>A (p.Gln1990=)
c.6516G>A (p.Gln2172=)
c.6333G>A (p.Gln2111=)
c.6054G>A (p.Gln2018=)
c.5097G>A (p.Gln1699=)
c.5088G>A (p.Gln1696=)
5g.37048626G>CCA359508491NIPBLc.6714G>C (p.Gln2238His)
c.1-15952G>C (n.1-15952G>C)
c.5970G>C (p.Gln1990His)
c.6516G>C (p.Gln2172His)
c.6333G>C (p.Gln2111His)
c.6054G>C (p.Gln2018His)
c.5097G>C (p.Gln1699His)
c.5088G>C (p.Gln1696His)
5g.37048626G=CA1539567725NIPBLc.6714G= (p.Gln2238=)
c.1-15952G= (n.1-15952G=)
c.5970G= (p.Gln1990=)
c.6516G= (p.Gln2172=)
c.6333G= (p.Gln2111=)
c.6054G= (p.Gln2018=)
c.5097G= (p.Gln1699=)
c.5088G= (p.Gln1696=)
5g.37048626G>TCA359508493NIPBLc.6714G>T (p.Gln2238His)
c.1-15952G>T (n.1-15952G>T)
c.5970G>T (p.Gln1990His)
c.6516G>T (p.Gln2172His)
c.6333G>T (p.Gln2111His)
c.6054G>T (p.Gln2018His)
c.5097G>T (p.Gln1699His)
c.5088G>T (p.Gln1696His)
 dbSNP gnomAD v4
5g.37048627A>CCA359508495NIPBLc.6715A>C (p.Thr2239Pro)
c.1-15951A>C (n.1-15951A>C)
c.5971A>C (p.Thr1991Pro)
c.6517A>C (p.Thr2173Pro)
c.6334A>C (p.Thr2112Pro)
c.6055A>C (p.Thr2019Pro)
c.5098A>C (p.Thr1700Pro)
c.5089A>C (p.Thr1697Pro)
5g.37048627A>GCA359508496NIPBLc.6715A>G (p.Thr2239Ala)
c.1-15951A>G (n.1-15951A>G)
c.5971A>G (p.Thr1991Ala)
c.6517A>G (p.Thr2173Ala)
c.6334A>G (p.Thr2112Ala)
c.6055A>G (p.Thr2019Ala)
c.5098A>G (p.Thr1700Ala)
c.5089A>G (p.Thr1697Ala)
5g.37048627A>TCA359508498NIPBLc.6715A>T (p.Thr2239Ser)
c.1-15951A>T (n.1-15951A>T)
c.5971A>T (p.Thr1991Ser)
c.6517A>T (p.Thr2173Ser)
c.6334A>T (p.Thr2112Ser)
c.6055A>T (p.Thr2019Ser)
c.5098A>T (p.Thr1700Ser)
c.5089A>T (p.Thr1697Ser)
5g.37048633_37048636delCA645546379NIPBLc.6721_6724del (p.Leu2241LysfsTer23)
c.1-15945_1-15942del (n.1-15945_1-15942del)
c.5977_5980del (p.Leu1993LysfsTer23)
c.6523_6526del (p.Leu2175LysfsTer23)
c.6340_6343del (p.Leu2114LysfsTer23)
c.6061_6064del (p.Leu2021LysfsTer23)
c.5104_5107del (p.Leu1702LysfsTer23)
c.5095_5098del (p.Leu1699LysfsTer23)
 COSMIC
5g.37048628C>ACA359508501NIPBLc.6716C>A (p.Thr2239Asn)
c.1-15950C>A (n.1-15950C>A)
c.5972C>A (p.Thr1991Asn)
c.6518C>A (p.Thr2173Asn)
c.6335C>A (p.Thr2112Asn)
c.6056C>A (p.Thr2019Asn)
c.5099C>A (p.Thr1700Asn)
c.5090C>A (p.Thr1697Asn)
 ClinVar
5g.37048628C>GCA359508502NIPBLc.6716C>G (p.Thr2239Ser)
c.1-15950C>G (n.1-15950C>G)
c.5972C>G (p.Thr1991Ser)
c.6518C>G (p.Thr2173Ser)
c.6335C>G (p.Thr2112Ser)
c.6056C>G (p.Thr2019Ser)
c.5099C>G (p.Thr1700Ser)
c.5090C>G (p.Thr1697Ser)
5g.37048628C>TCA359508505NIPBLc.6716C>T (p.Thr2239Ile)
c.1-15950C>T (n.1-15950C>T)
c.5972C>T (p.Thr1991Ile)
c.6518C>T (p.Thr2173Ile)
c.6335C>T (p.Thr2112Ile)
c.6056C>T (p.Thr2019Ile)
c.5099C>T (p.Thr1700Ile)
c.5090C>T (p.Thr1697Ile)
5g.37048629C>ACA443907147NIPBLc.6717C>A (p.Thr2239=)
c.1-15949C>A (n.1-15949C>A)
c.5973C>A (p.Thr1991=)
c.6519C>A (p.Thr2173=)
c.6336C>A (p.Thr2112=)
c.6057C>A (p.Thr2019=)
c.5100C>A (p.Thr1700=)
c.5091C>A (p.Thr1697=)
 COSMIC COSMIC
5g.37048629C>GCA443907148NIPBLc.6717C>G (p.Thr2239=)
c.1-15949C>G (n.1-15949C>G)
c.5973C>G (p.Thr1991=)
c.6519C>G (p.Thr2173=)
c.6336C>G (p.Thr2112=)
c.6057C>G (p.Thr2019=)
c.5100C>G (p.Thr1700=)
c.5091C>G (p.Thr1697=)
 ClinVar
5g.37048629C>TCA443907149NIPBLc.6717C>T (p.Thr2239=)
c.1-15949C>T (n.1-15949C>T)
c.5973C>T (p.Thr1991=)
c.6519C>T (p.Thr2173=)
c.6336C>T (p.Thr2112=)
c.6057C>T (p.Thr2019=)
c.5100C>T (p.Thr1700=)
c.5091C>T (p.Thr1697=)
5g.37048630T>ACA359508510NIPBLc.6718T>A (p.Tyr2240Asn)
c.1-15948T>A (n.1-15948T>A)
c.5974T>A (p.Tyr1992Asn)
c.6520T>A (p.Tyr2174Asn)
c.6337T>A (p.Tyr2113Asn)
c.6058T>A (p.Tyr2020Asn)
c.5101T>A (p.Tyr1701Asn)
c.5092T>A (p.Tyr1698Asn)
5g.37048630T>CCA359508509NIPBLc.6718T>C (p.Tyr2240His)
c.1-15948T>C (n.1-15948T>C)
c.5974T>C (p.Tyr1992His)
c.6520T>C (p.Tyr2174His)
c.6337T>C (p.Tyr2113His)
c.6058T>C (p.Tyr2020His)
c.5101T>C (p.Tyr1701His)
c.5092T>C (p.Tyr1698His)
 gnomAD v4
5g.37048630T>GCA359508507NIPBLc.6718T>G (p.Tyr2240Asp)
c.1-15948T>G (n.1-15948T>G)
c.5974T>G (p.Tyr1992Asp)
c.6520T>G (p.Tyr2174Asp)
c.6337T>G (p.Tyr2113Asp)
c.6058T>G (p.Tyr2020Asp)
c.5101T>G (p.Tyr1701Asp)
c.5092T>G (p.Tyr1698Asp)
5g.37048631A>CCA359508515NIPBLc.6719A>C (p.Tyr2240Ser)
c.1-15947A>C (n.1-15947A>C)
c.5975A>C (p.Tyr1992Ser)
c.6521A>C (p.Tyr2174Ser)
c.6338A>C (p.Tyr2113Ser)
c.6059A>C (p.Tyr2020Ser)
c.5102A>C (p.Tyr1701Ser)
c.5093A>C (p.Tyr1698Ser)
5g.37048631A>GCA359508511NIPBLc.6719A>G (p.Tyr2240Cys)
c.1-15947A>G (n.1-15947A>G)
c.5975A>G (p.Tyr1992Cys)
c.6521A>G (p.Tyr2174Cys)
c.6338A>G (p.Tyr2113Cys)
c.6059A>G (p.Tyr2020Cys)
c.5102A>G (p.Tyr1701Cys)
c.5093A>G (p.Tyr1698Cys)
5g.37048631A>TCA359508513NIPBLc.6719A>T (p.Tyr2240Phe)
c.1-15947A>T (n.1-15947A>T)
c.5975A>T (p.Tyr1992Phe)
c.6521A>T (p.Tyr2174Phe)
c.6338A>T (p.Tyr2113Phe)
c.6059A>T (p.Tyr2020Phe)
c.5102A>T (p.Tyr1701Phe)
c.5093A>T (p.Tyr1698Phe)
5g.37048632C>ACA359508517NIPBLc.6720C>A (p.Tyr2240Ter)
c.1-15946C>A (n.1-15946C>A)
c.5976C>A (p.Tyr1992Ter)
c.6522C>A (p.Tyr2174Ter)
c.6339C>A (p.Tyr2113Ter)
c.6060C>A (p.Tyr2020Ter)
c.5103C>A (p.Tyr1701Ter)
c.5094C>A (p.Tyr1698Ter)
5g.37048632C>GCA359508519NIPBLc.6720C>G (p.Tyr2240Ter)
c.1-15946C>G (n.1-15946C>G)
c.5976C>G (p.Tyr1992Ter)
c.6522C>G (p.Tyr2174Ter)
c.6339C>G (p.Tyr2113Ter)
c.6060C>G (p.Tyr2020Ter)
c.5103C>G (p.Tyr1701Ter)
c.5094C>G (p.Tyr1698Ter)
5g.37048632C>TCA443907150NIPBLc.6720C>T (p.Tyr2240=)
c.1-15946C>T (n.1-15946C>T)
c.5976C>T (p.Tyr1992=)
c.6522C>T (p.Tyr2174=)
c.6339C>T (p.Tyr2113=)
c.6060C>T (p.Tyr2020=)
c.5103C>T (p.Tyr1701=)
c.5094C>T (p.Tyr1698=)
 gnomAD v4
5g.37048633C>ACA359508521NIPBLc.6721C>A (p.Leu2241Ile)
c.1-15945C>A (n.1-15945C>A)
c.5977C>A (p.Leu1993Ile)
c.6523C>A (p.Leu2175Ile)
c.6340C>A (p.Leu2114Ile)
c.6061C>A (p.Leu2021Ile)
c.5104C>A (p.Leu1702Ile)
c.5095C>A (p.Leu1699Ile)
5g.37048633C>GCA359508523NIPBLc.6721C>G (p.Leu2241Val)
c.1-15945C>G (n.1-15945C>G)
c.5977C>G (p.Leu1993Val)
c.6523C>G (p.Leu2175Val)
c.6340C>G (p.Leu2114Val)
c.6061C>G (p.Leu2021Val)
c.5104C>G (p.Leu1702Val)
c.5095C>G (p.Leu1699Val)
5g.37048633C>TCA443907151NIPBLc.6721C>T (p.Leu2241=)
c.1-15945C>T (n.1-15945C>T)
c.5977C>T (p.Leu1993=)
c.6523C>T (p.Leu2175=)
c.6340C>T (p.Leu2114=)
c.6061C>T (p.Leu2021=)
c.5104C>T (p.Leu1702=)
c.5095C>T (p.Leu1699=)
 gnomAD v4
5g.37048634T>ACA359508525NIPBLc.6722T>A (p.Leu2241Gln)
c.1-15944T>A (n.1-15944T>A)
c.5978T>A (p.Leu1993Gln)
c.6524T>A (p.Leu2175Gln)
c.6341T>A (p.Leu2114Gln)
c.6062T>A (p.Leu2021Gln)
c.5105T>A (p.Leu1702Gln)
c.5096T>A (p.Leu1699Gln)
5g.37048634T>CCA359508527NIPBLc.6722T>C (p.Leu2241Pro)
c.1-15944T>C (n.1-15944T>C)
c.5978T>C (p.Leu1993Pro)
c.6524T>C (p.Leu2175Pro)
c.6341T>C (p.Leu2114Pro)
c.6062T>C (p.Leu2021Pro)
c.5105T>C (p.Leu1702Pro)
c.5096T>C (p.Leu1699Pro)
5g.37048634T>GCA359508529NIPBLc.6722T>G (p.Leu2241Arg)
c.1-15944T>G (n.1-15944T>G)
c.5978T>G (p.Leu1993Arg)
c.6524T>G (p.Leu2175Arg)
c.6341T>G (p.Leu2114Arg)
c.6062T>G (p.Leu2021Arg)
c.5105T>G (p.Leu1702Arg)
c.5096T>G (p.Leu1699Arg)
5g.37048635A=CA1539567732NIPBLc.6723A= (p.Leu2241=)
c.1-15943A= (n.1-15943A=)
c.5979A= (p.Leu1993=)
c.6525A= (p.Leu2175=)
c.6342A= (p.Leu2114=)
c.6063A= (p.Leu2021=)
c.5106A= (p.Leu1702=)
c.5097A= (p.Leu1699=)
5g.37048635A>CCA443907152NIPBLc.6723A>C (p.Leu2241=)
c.1-15943A>C (n.1-15943A>C)
c.5979A>C (p.Leu1993=)
c.6525A>C (p.Leu2175=)
c.6342A>C (p.Leu2114=)
c.6063A>C (p.Leu2021=)
c.5106A>C (p.Leu1702=)
c.5097A>C (p.Leu1699=)
5g.37048635A>GCA3237047NIPBLc.6723A>G (p.Leu2241=)
c.1-15943A>G (n.1-15943A>G)
c.5979A>G (p.Leu1993=)
c.6525A>G (p.Leu2175=)
c.6342A>G (p.Leu2114=)
c.6063A>G (p.Leu2021=)
c.5106A>G (p.Leu1702=)
c.5097A>G (p.Leu1699=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.37048635A>TCA443907153NIPBLc.6723A>T (p.Leu2241=)
c.1-15943A>T (n.1-15943A>T)
c.5979A>T (p.Leu1993=)
c.6525A>T (p.Leu2175=)
c.6342A>T (p.Leu2114=)
c.6063A>T (p.Leu2021=)
c.5106A>T (p.Leu1702=)
c.5097A>T (p.Leu1699=)
5g.37048636C>ACA359508531NIPBLc.6724C>A (p.Gln2242Lys)
c.1-15942C>A (n.1-15942C>A)
c.5980C>A (p.Gln1994Lys)
c.6526C>A (p.Gln2176Lys)
c.6343C>A (p.Gln2115Lys)
c.6064C>A (p.Gln2022Lys)
c.5107C>A (p.Gln1703Lys)
c.5098C>A (p.Gln1700Lys)
 gnomAD v4
5g.37048636C>GCA359508532NIPBLc.6724C>G (p.Gln2242Glu)
c.1-15942C>G (n.1-15942C>G)
c.5980C>G (p.Gln1994Glu)
c.6526C>G (p.Gln2176Glu)
c.6343C>G (p.Gln2115Glu)
c.6064C>G (p.Gln2022Glu)
c.5107C>G (p.Gln1703Glu)
c.5098C>G (p.Gln1700Glu)
5g.37048636C>TCA359508534NIPBLc.6724C>T (p.Gln2242Ter)
c.1-15942C>T (n.1-15942C>T)
c.5980C>T (p.Gln1994Ter)
c.6526C>T (p.Gln2176Ter)
c.6343C>T (p.Gln2115Ter)
c.6064C>T (p.Gln2022Ter)
c.5107C>T (p.Gln1703Ter)
c.5098C>T (p.Gln1700Ter)
5g.37048637A>CCA359508539NIPBLc.6725A>C (p.Gln2242Pro)
c.1-15941A>C (n.1-15941A>C)
c.5981A>C (p.Gln1994Pro)
c.6527A>C (p.Gln2176Pro)
c.6344A>C (p.Gln2115Pro)
c.6065A>C (p.Gln2022Pro)
c.5108A>C (p.Gln1703Pro)
c.5099A>C (p.Gln1700Pro)
5g.37048637A>GCA359508537NIPBLc.6725A>G (p.Gln2242Arg)
c.1-15941A>G (n.1-15941A>G)
c.5981A>G (p.Gln1994Arg)
c.6527A>G (p.Gln2176Arg)
c.6344A>G (p.Gln2115Arg)
c.6065A>G (p.Gln2022Arg)
c.5108A>G (p.Gln1703Arg)
c.5099A>G (p.Gln1700Arg)
5g.37048637A>TCA359508536NIPBLc.6725A>T (p.Gln2242Leu)
c.1-15941A>T (n.1-15941A>T)
c.5981A>T (p.Gln1994Leu)
c.6527A>T (p.Gln2176Leu)
c.6344A>T (p.Gln2115Leu)
c.6065A>T (p.Gln2022Leu)
c.5108A>T (p.Gln1703Leu)
c.5099A>T (p.Gln1700Leu)
5g.37048644_37048646delCA923726220NIPBLc.6732_6734del (p.Glu2244del)
c.1-15934_1-15932del (n.1-15934_1-15932del)
c.5988_5990del (p.Glu1996del)
c.6534_6536del (p.Glu2178del)
c.6351_6353del (p.Glu2117del)
c.6072_6074del (p.Glu2024del)
c.5115_5117del (p.Glu1705del)
c.5106_5108del (p.Glu1702del)
 ClinVar dbSNP
5g.37048638A=CA1539567736NIPBLc.6726A= (p.Gln2242=)
c.1-15940A= (n.1-15940A=)
c.5982A= (p.Gln1994=)
c.6528A= (p.Gln2176=)
c.6345A= (p.Gln2115=)
c.6066A= (p.Gln2022=)
c.5109A= (p.Gln1703=)
c.5100A= (p.Gln1700=)
5g.37048638A>CCA359508540NIPBLc.6726A>C (p.Gln2242His)
c.1-15940A>C (n.1-15940A>C)
c.5982A>C (p.Gln1994His)
c.6528A>C (p.Gln2176His)
c.6345A>C (p.Gln2115His)
c.6066A>C (p.Gln2022His)
c.5109A>C (p.Gln1703His)
c.5100A>C (p.Gln1700His)
5g.37048638A>GCA3237048NIPBLc.6726A>G (p.Gln2242=)
c.1-15940A>G (n.1-15940A>G)
c.5982A>G (p.Gln1994=)
c.6528A>G (p.Gln2176=)
c.6345A>G (p.Gln2115=)
c.6066A>G (p.Gln2022=)
c.5109A>G (p.Gln1703=)
c.5100A>G (p.Gln1700=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.37048638A>TCA359508542NIPBLc.6726A>T (p.Gln2242His)
c.1-15940A>T (n.1-15940A>T)
c.5982A>T (p.Gln1994His)
c.6528A>T (p.Gln2176His)
c.6345A>T (p.Gln2115His)
c.6066A>T (p.Gln2022His)
c.5109A>T (p.Gln1703His)
c.5100A>T (p.Gln1700His)
5g.37048639G>ACA359508543NIPBLc.6727G>A (p.Glu2243Lys)
c.1-15939G>A (n.1-15939G>A)
c.5983G>A (p.Glu1995Lys)
c.6529G>A (p.Glu2177Lys)
c.6346G>A (p.Glu2116Lys)
c.6067G>A (p.Glu2023Lys)
c.5110G>A (p.Glu1704Lys)
c.5101G>A (p.Glu1701Lys)
5g.37048639G>CCA359508544NIPBLc.6727G>C (p.Glu2243Gln)
c.1-15939G>C (n.1-15939G>C)
c.5983G>C (p.Glu1995Gln)
c.6529G>C (p.Glu2177Gln)
c.6346G>C (p.Glu2116Gln)
c.6067G>C (p.Glu2023Gln)
c.5110G>C (p.Glu1704Gln)
c.5101G>C (p.Glu1701Gln)
5g.37048639G>TCA359508546NIPBLc.6727G>T (p.Glu2243Ter)
c.1-15939G>T (n.1-15939G>T)
c.5983G>T (p.Glu1995Ter)
c.6529G>T (p.Glu2177Ter)
c.6346G>T (p.Glu2116Ter)
c.6067G>T (p.Glu2023Ter)
c.5110G>T (p.Glu1704Ter)
c.5101G>T (p.Glu1701Ter)
5g.37048640A>CCA359508548NIPBLc.6728A>C (p.Glu2243Ala)
c.1-15938A>C (n.1-15938A>C)
c.5984A>C (p.Glu1995Ala)
c.6530A>C (p.Glu2177Ala)
c.6347A>C (p.Glu2116Ala)
c.6068A>C (p.Glu2023Ala)
c.5111A>C (p.Glu1704Ala)
c.5102A>C (p.Glu1701Ala)
5g.37048640A>GCA359508550NIPBLc.6728A>G (p.Glu2243Gly)
c.1-15938A>G (n.1-15938A>G)
c.5984A>G (p.Glu1995Gly)
c.6530A>G (p.Glu2177Gly)
c.6347A>G (p.Glu2116Gly)
c.6068A>G (p.Glu2023Gly)
c.5111A>G (p.Glu1704Gly)
c.5102A>G (p.Glu1701Gly)
5g.37048640A>TCA359508552NIPBLc.6728A>T (p.Glu2243Val)
c.1-15938A>T (n.1-15938A>T)
c.5984A>T (p.Glu1995Val)
c.6530A>T (p.Glu2177Val)
c.6347A>T (p.Glu2116Val)
c.6068A>T (p.Glu2023Val)
c.5111A>T (p.Glu1704Val)
c.5102A>T (p.Glu1701Val)
5g.37048641A>CCA359508553NIPBLc.6729A>C (p.Glu2243Asp)
c.1-15937A>C (n.1-15937A>C)
c.5985A>C (p.Glu1995Asp)
c.6531A>C (p.Glu2177Asp)
c.6348A>C (p.Glu2116Asp)
c.6069A>C (p.Glu2023Asp)
c.5112A>C (p.Glu1704Asp)
c.5103A>C (p.Glu1701Asp)
5g.37048641A>GCA443907154NIPBLc.6729A>G (p.Glu2243=)
c.1-15937A>G (n.1-15937A>G)
c.5985A>G (p.Glu1995=)
c.6531A>G (p.Glu2177=)
c.6348A>G (p.Glu2116=)
c.6069A>G (p.Glu2023=)
c.5112A>G (p.Glu1704=)
c.5103A>G (p.Glu1701=)
5g.37048641A>TCA359508554NIPBLc.6729A>T (p.Glu2243Asp)
c.1-15937A>T (n.1-15937A>T)
c.5985A>T (p.Glu1995Asp)
c.6531A>T (p.Glu2177Asp)
c.6348A>T (p.Glu2116Asp)
c.6069A>T (p.Glu2023Asp)
c.5112A>T (p.Glu1704Asp)
c.5103A>T (p.Glu1701Asp)
5g.37048642G>ACA359508555NIPBLc.6730G>A (p.Glu2244Lys)
c.1-15936G>A (n.1-15936G>A)
c.5986G>A (p.Glu1996Lys)
c.6532G>A (p.Glu2178Lys)
c.6349G>A (p.Glu2117Lys)
c.6070G>A (p.Glu2024Lys)
c.5113G>A (p.Glu1705Lys)
c.5104G>A (p.Glu1702Lys)
5g.37048642G>CCA359508556NIPBLc.6730G>C (p.Glu2244Gln)
c.1-15936G>C (n.1-15936G>C)
c.5986G>C (p.Glu1996Gln)
c.6532G>C (p.Glu2178Gln)
c.6349G>C (p.Glu2117Gln)
c.6070G>C (p.Glu2024Gln)
c.5113G>C (p.Glu1705Gln)
c.5104G>C (p.Glu1702Gln)
5g.37048642G>TCA359508558NIPBLc.6730G>T (p.Glu2244Ter)
c.1-15936G>T (n.1-15936G>T)
c.5986G>T (p.Glu1996Ter)
c.6532G>T (p.Glu2178Ter)
c.6349G>T (p.Glu2117Ter)
c.6070G>T (p.Glu2024Ter)
c.5113G>T (p.Glu1705Ter)
c.5104G>T (p.Glu1702Ter)
5g.37048643A>CCA359508562NIPBLc.6731A>C (p.Glu2244Ala)
c.1-15935A>C (n.1-15935A>C)
c.5987A>C (p.Glu1996Ala)
c.6533A>C (p.Glu2178Ala)
c.6350A>C (p.Glu2117Ala)
c.6071A>C (p.Glu2024Ala)
c.5114A>C (p.Glu1705Ala)
c.5105A>C (p.Glu1702Ala)
5g.37048643A>GCA359508564NIPBLc.6731A>G (p.Glu2244Gly)
c.1-15935A>G (n.1-15935A>G)
c.5987A>G (p.Glu1996Gly)
c.6533A>G (p.Glu2178Gly)
c.6350A>G (p.Glu2117Gly)
c.6071A>G (p.Glu2024Gly)
c.5114A>G (p.Glu1705Gly)
c.5105A>G (p.Glu1702Gly)
5g.37048643A>TCA359508560NIPBLc.6731A>T (p.Glu2244Val)
c.1-15935A>T (n.1-15935A>T)
c.5987A>T (p.Glu1996Val)
c.6533A>T (p.Glu2178Val)
c.6350A>T (p.Glu2117Val)
c.6071A>T (p.Glu2024Val)
c.5114A>T (p.Glu1705Val)
c.5105A>T (p.Glu1702Val)
5g.37048644A=CA1539567740NIPBLc.6732A= (p.Glu2244=)
c.1-15934A= (n.1-15934A=)
c.5988A= (p.Glu1996=)
c.6534A= (p.Glu2178=)
c.6351A= (p.Glu2117=)
c.6072A= (p.Glu2024=)
c.5115A= (p.Glu1705=)
c.5106A= (p.Glu1702=)
5g.37048644A>CCA359508566NIPBLc.6732A>C (p.Glu2244Asp)
c.1-15934A>C (n.1-15934A>C)
c.5988A>C (p.Glu1996Asp)
c.6534A>C (p.Glu2178Asp)
c.6351A>C (p.Glu2117Asp)
c.6072A>C (p.Glu2024Asp)
c.5115A>C (p.Glu1705Asp)
c.5106A>C (p.Glu1702Asp)
5g.37048644A>GCA443907155NIPBLc.6732A>G (p.Glu2244=)
c.1-15934A>G (n.1-15934A>G)
c.5988A>G (p.Glu1996=)
c.6534A>G (p.Glu2178=)
c.6351A>G (p.Glu2117=)
c.6072A>G (p.Glu2024=)
c.5115A>G (p.Glu1705=)
c.5106A>G (p.Glu1702=)
 dbSNP
5g.37048644A>TCA359508568NIPBLc.6732A>T (p.Glu2244Asp)
c.1-15934A>T (n.1-15934A>T)
c.5988A>T (p.Glu1996Asp)
c.6534A>T (p.Glu2178Asp)
c.6351A>T (p.Glu2117Asp)
c.6072A>T (p.Glu2024Asp)
c.5115A>T (p.Glu1705Asp)
c.5106A>T (p.Glu1702Asp)
 gnomAD v4
5g.37048645G>ACA359508570NIPBLc.6733G>A (p.Asp2245Asn)
c.1-15933G>A (n.1-15933G>A)
c.5989G>A (p.Asp1997Asn)
c.6535G>A (p.Asp2179Asn)
c.6352G>A (p.Asp2118Asn)
c.6073G>A (p.Asp2025Asn)
c.5116G>A (p.Asp1706Asn)
c.5107G>A (p.Asp1703Asn)
5g.37048645G>CCA359508571NIPBLc.6733G>C (p.Asp2245His)
c.1-15933G>C (n.1-15933G>C)
c.5989G>C (p.Asp1997His)
c.6535G>C (p.Asp2179His)
c.6352G>C (p.Asp2118His)
c.6073G>C (p.Asp2025His)
c.5116G>C (p.Asp1706His)
c.5107G>C (p.Asp1703His)
5g.37048645G>TCA359508573NIPBLc.6733G>T (p.Asp2245Tyr)
c.1-15933G>T (n.1-15933G>T)
c.5989G>T (p.Asp1997Tyr)
c.6535G>T (p.Asp2179Tyr)
c.6352G>T (p.Asp2118Tyr)
c.6073G>T (p.Asp2025Tyr)
c.5116G>T (p.Asp1706Tyr)
c.5107G>T (p.Asp1703Tyr)
5g.37048646A>CCA359508575NIPBLc.6734A>C (p.Asp2245Ala)
c.1-15932A>C (n.1-15932A>C)
c.5990A>C (p.Asp1997Ala)
c.6536A>C (p.Asp2179Ala)
c.6353A>C (p.Asp2118Ala)
c.6074A>C (p.Asp2025Ala)
c.5117A>C (p.Asp1706Ala)
c.5108A>C (p.Asp1703Ala)
5g.37048646A>GCA359508577NIPBLc.6734A>G (p.Asp2245Gly)
c.1-15932A>G (n.1-15932A>G)
c.5990A>G (p.Asp1997Gly)
c.6536A>G (p.Asp2179Gly)
c.6353A>G (p.Asp2118Gly)
c.6074A>G (p.Asp2025Gly)
c.5117A>G (p.Asp1706Gly)
c.5108A>G (p.Asp1703Gly)
5g.37048646A>TCA359508579NIPBLc.6734A>T (p.Asp2245Val)
c.1-15932A>T (n.1-15932A>T)
c.5990A>T (p.Asp1997Val)
c.6536A>T (p.Asp2179Val)
c.6353A>T (p.Asp2118Val)
c.6074A>T (p.Asp2025Val)
c.5117A>T (p.Asp1706Val)
c.5108A>T (p.Asp1703Val)
5g.37048647T>ACA359508581NIPBLc.6735T>A (p.Asp2245Glu)
c.1-15931T>A (n.1-15931T>A)
c.5991T>A (p.Asp1997Glu)
c.6537T>A (p.Asp2179Glu)
c.6354T>A (p.Asp2118Glu)
c.6075T>A (p.Asp2025Glu)
c.5118T>A (p.Asp1706Glu)
c.5109T>A (p.Asp1703Glu)
 gnomAD v4
5g.37048647T>CCA443907156NIPBLc.6735T>C (p.Asp2245=)
c.1-15931T>C (n.1-15931T>C)
c.5991T>C (p.Asp1997=)
c.6537T>C (p.Asp2179=)
c.6354T>C (p.Asp2118=)
c.6075T>C (p.Asp2025=)
c.5118T>C (p.Asp1706=)
c.5109T>C (p.Asp1703=)
5g.37048647T>GCA359508582NIPBLc.6735T>G (p.Asp2245Glu)
c.1-15931T>G (n.1-15931T>G)
c.5991T>G (p.Asp1997Glu)
c.6537T>G (p.Asp2179Glu)
c.6354T>G (p.Asp2118Glu)
c.6075T>G (p.Asp2025Glu)
c.5118T>G (p.Asp1706Glu)
c.5109T>G (p.Asp1703Glu)
5g.37048648A>CCA359508583NIPBLc.6736A>C (p.Thr2246Pro)
c.1-15930A>C (n.1-15930A>C)
c.5992A>C (p.Thr1998Pro)
c.6538A>C (p.Thr2180Pro)
c.6355A>C (p.Thr2119Pro)
c.6076A>C (p.Thr2026Pro)
c.5119A>C (p.Thr1707Pro)
c.5110A>C (p.Thr1704Pro)
5g.37048648A>GCA359508585NIPBLc.6736A>G (p.Thr2246Ala)
c.1-15930A>G (n.1-15930A>G)
c.5992A>G (p.Thr1998Ala)
c.6538A>G (p.Thr2180Ala)
c.6355A>G (p.Thr2119Ala)
c.6076A>G (p.Thr2026Ala)
c.5119A>G (p.Thr1707Ala)
c.5110A>G (p.Thr1704Ala)
5g.37048648A>TCA359508589NIPBLc.6736A>T (p.Thr2246Ser)
c.1-15930A>T (n.1-15930A>T)
c.5992A>T (p.Thr1998Ser)
c.6538A>T (p.Thr2180Ser)
c.6355A>T (p.Thr2119Ser)
c.6076A>T (p.Thr2026Ser)
c.5119A>T (p.Thr1707Ser)
c.5110A>T (p.Thr1704Ser)
5g.37048649C>ACA359508594NIPBLc.6737C>A (p.Thr2246Lys)
c.1-15929C>A (n.1-15929C>A)
c.5993C>A (p.Thr1998Lys)
c.6539C>A (p.Thr2180Lys)
c.6356C>A (p.Thr2119Lys)
c.6077C>A (p.Thr2026Lys)
c.5120C>A (p.Thr1707Lys)
c.5111C>A (p.Thr1704Lys)
 gnomAD v4
5g.37048649C>GCA359508591NIPBLc.6737C>G (p.Thr2246Arg)
c.1-15929C>G (n.1-15929C>G)
c.5993C>G (p.Thr1998Arg)
c.6539C>G (p.Thr2180Arg)
c.6356C>G (p.Thr2119Arg)
c.6077C>G (p.Thr2026Arg)
c.5120C>G (p.Thr1707Arg)
c.5111C>G (p.Thr1704Arg)
5g.37048649C>TCA359508593NIPBLc.6737C>T (p.Thr2246Ile)
c.1-15929C>T (n.1-15929C>T)
c.5993C>T (p.Thr1998Ile)
c.6539C>T (p.Thr2180Ile)
c.6356C>T (p.Thr2119Ile)
c.6077C>T (p.Thr2026Ile)
c.5120C>T (p.Thr1707Ile)
c.5111C>T (p.Thr1704Ile)
5g.37048650A>CCA443907157NIPBLc.6738A>C (p.Thr2246=)
c.1-15928A>C (n.1-15928A>C)
c.5994A>C (p.Thr1998=)
c.6540A>C (p.Thr2180=)
c.6357A>C (p.Thr2119=)
c.6078A>C (p.Thr2026=)
c.5121A>C (p.Thr1707=)
c.5112A>C (p.Thr1704=)
5g.37048650A>GCA443907158NIPBLc.6738A>G (p.Thr2246=)
c.1-15928A>G (n.1-15928A>G)
c.5994A>G (p.Thr1998=)
c.6540A>G (p.Thr2180=)
c.6357A>G (p.Thr2119=)
c.6078A>G (p.Thr2026=)
c.5121A>G (p.Thr1707=)
c.5112A>G (p.Thr1704=)
5g.37048650A>TCA443907159NIPBLc.6738A>T (p.Thr2246=)
c.1-15928A>T (n.1-15928A>T)
c.5994A>T (p.Thr1998=)
c.6540A>T (p.Thr2180=)
c.6357A>T (p.Thr2119=)
c.6078A>T (p.Thr2026=)
c.5121A>T (p.Thr1707=)
c.5112A>T (p.Thr1704=)
5g.37048651C>ACA359508597NIPBLc.6739C>A (p.Arg2247Ser)
c.1-15927C>A (n.1-15927C>A)
c.5995C>A (p.Arg1999Ser)
c.6541C>A (p.Arg2181Ser)
c.6358C>A (p.Arg2120Ser)
c.6079C>A (p.Arg2027Ser)
c.5122C>A (p.Arg1708Ser)
c.5113C>A (p.Arg1705Ser)
 gnomAD v4
5g.37048651C=CA1539567744NIPBLc.6739C= (p.Arg2247=)
c.1-15927C= (n.1-15927C=)
c.5995C= (p.Arg1999=)
c.6541C= (p.Arg2181=)
c.6358C= (p.Arg2120=)
c.6079C= (p.Arg2027=)
c.5122C= (p.Arg1708=)
c.5113C= (p.Arg1705=)
5g.37048651C>GCA359508599NIPBLc.6739C>G (p.Arg2247Gly)
c.1-15927C>G (n.1-15927C>G)
c.5995C>G (p.Arg1999Gly)
c.6541C>G (p.Arg2181Gly)
c.6358C>G (p.Arg2120Gly)
c.6079C>G (p.Arg2027Gly)
c.5122C>G (p.Arg1708Gly)
c.5113C>G (p.Arg1705Gly)
5g.37048651C>TCA359508601NIPBLc.6739C>T (p.Arg2247Cys)
c.1-15927C>T (n.1-15927C>T)
c.5995C>T (p.Arg1999Cys)
c.6541C>T (p.Arg2181Cys)
c.6358C>T (p.Arg2120Cys)
c.6079C>T (p.Arg2027Cys)
c.5122C>T (p.Arg1708Cys)
c.5113C>T (p.Arg1705Cys)
 dbSNP gnomAD v2 gnomAD v4
5g.37048652G>ACA3237049NIPBLc.6740G>A (p.Arg2247His)
c.1-15926G>A (n.1-15926G>A)
c.5996G>A (p.Arg1999His)
c.6542G>A (p.Arg2181His)
c.6359G>A (p.Arg2120His)
c.6080G>A (p.Arg2027His)
c.5123G>A (p.Arg1708His)
c.5114G>A (p.Arg1705His)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.37048652G>CCA359508604NIPBLc.6740G>C (p.Arg2247Pro)
c.1-15926G>C (n.1-15926G>C)
c.5996G>C (p.Arg1999Pro)
c.6542G>C (p.Arg2181Pro)
c.6359G>C (p.Arg2120Pro)
c.6080G>C (p.Arg2027Pro)
c.5123G>C (p.Arg1708Pro)
c.5114G>C (p.Arg1705Pro)
5g.37048652G=CA1539567745NIPBLc.6740G= (p.Arg2247=)
c.1-15926G= (n.1-15926G=)
c.5996G= (p.Arg1999=)
c.6542G= (p.Arg2181=)
c.6359G= (p.Arg2120=)
c.6080G= (p.Arg2027=)
c.5123G= (p.Arg1708=)
c.5114G= (p.Arg1705=)
5g.37048652G>TCA359508607NIPBLc.6740G>T (p.Arg2247Leu)
c.1-15926G>T (n.1-15926G>T)
c.5996G>T (p.Arg1999Leu)
c.6542G>T (p.Arg2181Leu)
c.6359G>T (p.Arg2120Leu)
c.6080G>T (p.Arg2027Leu)
c.5123G>T (p.Arg1708Leu)
c.5114G>T (p.Arg1705Leu)
5g.37048653T>ACA443907160NIPBLc.6741T>A (p.Arg2247=)
c.1-15925T>A (n.1-15925T>A)
c.5997T>A (p.Arg1999=)
c.6543T>A (p.Arg2181=)
c.6360T>A (p.Arg2120=)
c.6081T>A (p.Arg2027=)
c.5124T>A (p.Arg1708=)
c.5115T>A (p.Arg1705=)
5g.37048653T>CCA443907161NIPBLc.6741T>C (p.Arg2247=)
c.1-15925T>C (n.1-15925T>C)
c.5997T>C (p.Arg1999=)
c.6543T>C (p.Arg2181=)
c.6360T>C (p.Arg2120=)
c.6081T>C (p.Arg2027=)
c.5124T>C (p.Arg1708=)
c.5115T>C (p.Arg1705=)
5g.37048653T>GCA443907162NIPBLc.6741T>G (p.Arg2247=)
c.1-15925T>G (n.1-15925T>G)
c.5997T>G (p.Arg1999=)
c.6543T>G (p.Arg2181=)
c.6360T>G (p.Arg2120=)
c.6081T>G (p.Arg2027=)
c.5124T>G (p.Arg1708=)
c.5115T>G (p.Arg1705=)
5g.37048653_37048654insGCCA2695204422NIPBLc.6741_6742insGC (p.Met2248AlafsTer18)
c.1-15925_1-15924insGC (n.1-15925_1-15924insGC)
c.5997_5998insGC (p.Met2000AlafsTer18)
c.6543_6544insGC (p.Met2182AlafsTer18)
c.6360_6361insGC (p.Met2121AlafsTer18)
c.6081_6082insGC (p.Met2028AlafsTer18)
c.5124_5125insGC (p.Met1709AlafsTer18)
c.5115_5116insGC (p.Met1706AlafsTer18)
5g.37048654A>CCA359508609NIPBLc.6742A>C (p.Met2248Leu)
c.1-15924A>C (n.1-15924A>C)
c.5998A>C (p.Met2000Leu)
c.6544A>C (p.Met2182Leu)
c.6361A>C (p.Met2121Leu)
c.6082A>C (p.Met2028Leu)
c.5125A>C (p.Met1709Leu)
c.5116A>C (p.Met1706Leu)
5g.37048654A>GCA359508610NIPBLc.6742A>G (p.Met2248Val)
c.1-15924A>G (n.1-15924A>G)
c.5998A>G (p.Met2000Val)
c.6544A>G (p.Met2182Val)
c.6361A>G (p.Met2121Val)
c.6082A>G (p.Met2028Val)
c.5125A>G (p.Met1709Val)
c.5116A>G (p.Met1706Val)
 COSMIC COSMIC
5g.37048654A>TCA359508612NIPBLc.6742A>T (p.Met2248Leu)
c.1-15924A>T (n.1-15924A>T)
c.5998A>T (p.Met2000Leu)
c.6544A>T (p.Met2182Leu)
c.6361A>T (p.Met2121Leu)
c.6082A>T (p.Met2028Leu)
c.5125A>T (p.Met1709Leu)
c.5116A>T (p.Met1706Leu)
 gnomAD v4
5g.37048655T>ACA359508614NIPBLc.6743T>A (p.Met2248Lys)
c.1-15923T>A (n.1-15923T>A)
c.5999T>A (p.Met2000Lys)
c.6545T>A (p.Met2182Lys)
c.6362T>A (p.Met2121Lys)
c.6083T>A (p.Met2028Lys)
c.5126T>A (p.Met1709Lys)
c.5117T>A (p.Met1706Lys)
5g.37048655T>CCA359508616NIPBLc.6743T>C (p.Met2248Thr)
c.1-15923T>C (n.1-15923T>C)
c.5999T>C (p.Met2000Thr)
c.6545T>C (p.Met2182Thr)
c.6362T>C (p.Met2121Thr)
c.6083T>C (p.Met2028Thr)
c.5126T>C (p.Met1709Thr)
c.5117T>C (p.Met1706Thr)
5g.37048655T>GCA359508617NIPBLc.6743T>G (p.Met2248Arg)
c.1-15923T>G (n.1-15923T>G)
c.5999T>G (p.Met2000Arg)
c.6545T>G (p.Met2182Arg)
c.6362T>G (p.Met2121Arg)
c.6083T>G (p.Met2028Arg)
c.5126T>G (p.Met1709Arg)
c.5117T>G (p.Met1706Arg)
5g.37048656G>ACA359508620NIPBLc.6744G>A (p.Met2248Ile)
c.1-15922G>A (n.1-15922G>A)
c.6000G>A (p.Met2000Ile)
c.6546G>A (p.Met2182Ile)
c.6363G>A (p.Met2121Ile)
c.6084G>A (p.Met2028Ile)
c.5127G>A (p.Met1709Ile)
c.5118G>A (p.Met1706Ile)
5g.37048656G>CCA359508619NIPBLc.6744G>C (p.Met2248Ile)
c.1-15922G>C (n.1-15922G>C)
c.6000G>C (p.Met2000Ile)
c.6546G>C (p.Met2182Ile)
c.6363G>C (p.Met2121Ile)
c.6084G>C (p.Met2028Ile)
c.5127G>C (p.Met1709Ile)
c.5118G>C (p.Met1706Ile)
5g.37048656G>TCA359508618NIPBLc.6744G>T (p.Met2248Ile)
c.1-15922G>T (n.1-15922G>T)
c.6000G>T (p.Met2000Ile)
c.6546G>T (p.Met2182Ile)
c.6363G>T (p.Met2121Ile)
c.6084G>T (p.Met2028Ile)
c.5127G>T (p.Met1709Ile)
c.5118G>T (p.Met1706Ile)
5g.37048657C>ACA359508621NIPBLc.6745C>A (p.Gln2249Lys)
c.1-15921C>A (n.1-15921C>A)
c.6001C>A (p.Gln2001Lys)
c.6547C>A (p.Gln2183Lys)
c.6364C>A (p.Gln2122Lys)
c.6085C>A (p.Gln2029Lys)
c.5128C>A (p.Gln1710Lys)
c.5119C>A (p.Gln1707Lys)
 gnomAD v4
5g.37048657C>GCA359508623NIPBLc.6745C>G (p.Gln2249Glu)
c.1-15921C>G (n.1-15921C>G)
c.6001C>G (p.Gln2001Glu)
c.6547C>G (p.Gln2183Glu)
c.6364C>G (p.Gln2122Glu)
c.6085C>G (p.Gln2029Glu)
c.5128C>G (p.Gln1710Glu)
c.5119C>G (p.Gln1707Glu)
5g.37048657C>TCA359508622NIPBLc.6745C>T (p.Gln2249Ter)
c.1-15921C>T (n.1-15921C>T)
c.6001C>T (p.Gln2001Ter)
c.6547C>T (p.Gln2183Ter)
c.6364C>T (p.Gln2122Ter)
c.6085C>T (p.Gln2029Ter)
c.5128C>T (p.Gln1710Ter)
c.5119C>T (p.Gln1707Ter)
5g.37048658A>CCA359508624NIPBLc.6746A>C (p.Gln2249Pro)
c.1-15920A>C (n.1-15920A>C)
c.6002A>C (p.Gln2001Pro)
c.6548A>C (p.Gln2183Pro)
c.6365A>C (p.Gln2122Pro)
c.6086A>C (p.Gln2029Pro)
c.5129A>C (p.Gln1710Pro)
c.5120A>C (p.Gln1707Pro)
5g.37048658A>GCA359508625NIPBLc.6746A>G (p.Gln2249Arg)
c.1-15920A>G (n.1-15920A>G)
c.6002A>G (p.Gln2001Arg)
c.6548A>G (p.Gln2183Arg)
c.6365A>G (p.Gln2122Arg)
c.6086A>G (p.Gln2029Arg)
c.5129A>G (p.Gln1710Arg)
c.5120A>G (p.Gln1707Arg)
5g.37048658A>TCA359508626NIPBLc.6746A>T (p.Gln2249Leu)
c.1-15920A>T (n.1-15920A>T)
c.6002A>T (p.Gln2001Leu)
c.6548A>T (p.Gln2183Leu)
c.6365A>T (p.Gln2122Leu)
c.6086A>T (p.Gln2029Leu)
c.5129A>T (p.Gln1710Leu)
c.5120A>T (p.Gln1707Leu)
5g.37048659G>ACA3237050NIPBLc.6747G>A (p.Gln2249=)
c.1-15919G>A (n.1-15919G>A)
c.6003G>A (p.Gln2001=)
c.6549G>A (p.Gln2183=)
c.6366G>A (p.Gln2122=)
c.6087G>A (p.Gln2029=)
c.5130G>A (p.Gln1710=)
c.5121G>A (p.Gln1707=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.37048659G>CCA359508627NIPBLc.6747G>C (p.Gln2249His)
c.1-15919G>C (n.1-15919G>C)
c.6003G>C (p.Gln2001His)
c.6549G>C (p.Gln2183His)
c.6366G>C (p.Gln2122His)
c.6087G>C (p.Gln2029His)
c.5130G>C (p.Gln1710His)
c.5121G>C (p.Gln1707His)
5g.37048659G=CA1539567748NIPBLc.6747G= (p.Gln2249=)
c.1-15919G= (n.1-15919G=)
c.6003G= (p.Gln2001=)
c.6549G= (p.Gln2183=)
c.6366G= (p.Gln2122=)
c.6087G= (p.Gln2029=)
c.5130G= (p.Gln1710=)
c.5121G= (p.Gln1707=)
5g.37048659G>TCA359508628NIPBLc.6747G>T (p.Gln2249His)
c.1-15919G>T (n.1-15919G>T)
c.6003G>T (p.Gln2001His)
c.6549G>T (p.Gln2183His)
c.6366G>T (p.Gln2122His)
c.6087G>T (p.Gln2029His)
c.5130G>T (p.Gln1710His)
c.5121G>T (p.Gln1707His)
 gnomAD v4
5g.37048660C>ACA359508631NIPBLc.6748C>A (p.Gln2250Lys)
c.1-15918C>A (n.1-15918C>A)
c.6004C>A (p.Gln2002Lys)
c.6550C>A (p.Gln2184Lys)
c.6367C>A (p.Gln2123Lys)
c.6088C>A (p.Gln2030Lys)
c.5131C>A (p.Gln1711Lys)
c.5122C>A (p.Gln1708Lys)
 gnomAD v4
5g.37048660C>GCA359508629NIPBLc.6748C>G (p.Gln2250Glu)
c.1-15918C>G (n.1-15918C>G)
c.6004C>G (p.Gln2002Glu)
c.6550C>G (p.Gln2184Glu)
c.6367C>G (p.Gln2123Glu)
c.6088C>G (p.Gln2030Glu)
c.5131C>G (p.Gln1711Glu)
c.5122C>G (p.Gln1708Glu)
5g.37048660C>TCA359508630NIPBLc.6748C>T (p.Gln2250Ter)
c.1-15918C>T (n.1-15918C>T)
c.6004C>T (p.Gln2002Ter)
c.6550C>T (p.Gln2184Ter)
c.6367C>T (p.Gln2123Ter)
c.6088C>T (p.Gln2030Ter)
c.5131C>T (p.Gln1711Ter)
c.5122C>T (p.Gln1708Ter)
 ClinVar gnomAD v4
5g.37048661A>CCA359508632NIPBLc.6749A>C (p.Gln2250Pro)
c.1-15917A>C (n.1-15917A>C)
c.6005A>C (p.Gln2002Pro)
c.6551A>C (p.Gln2184Pro)
c.6368A>C (p.Gln2123Pro)
c.6089A>C (p.Gln2030Pro)
c.5132A>C (p.Gln1711Pro)
c.5123A>C (p.Gln1708Pro)
5g.37048661A>GCA359508633NIPBLc.6749A>G (p.Gln2250Arg)
c.1-15917A>G (n.1-15917A>G)
c.6005A>G (p.Gln2002Arg)
c.6551A>G (p.Gln2184Arg)
c.6368A>G (p.Gln2123Arg)
c.6089A>G (p.Gln2030Arg)
c.5132A>G (p.Gln1711Arg)
c.5123A>G (p.Gln1708Arg)
 gnomAD v4
5g.37048661A>TCA359508634NIPBLc.6749A>T (p.Gln2250Leu)
c.1-15917A>T (n.1-15917A>T)
c.6005A>T (p.Gln2002Leu)
c.6551A>T (p.Gln2184Leu)
c.6368A>T (p.Gln2123Leu)
c.6089A>T (p.Gln2030Leu)
c.5132A>T (p.Gln1711Leu)
c.5123A>T (p.Gln1708Leu)
5g.37048662G>ACA443907163NIPBLc.6750G>A (p.Gln2250=)
c.1-15916G>A (n.1-15916G>A)
c.6006G>A (p.Gln2002=)
c.6552G>A (p.Gln2184=)
c.6369G>A (p.Gln2123=)
c.6090G>A (p.Gln2030=)
c.5133G>A (p.Gln1711=)
c.5124G>A (p.Gln1708=)
 dbSNP gnomAD v4
5g.37048662G>CCA359508635NIPBLc.6750G>C (p.Gln2250His)
c.1-15916G>C (n.1-15916G>C)
c.6006G>C (p.Gln2002His)
c.6552G>C (p.Gln2184His)
c.6369G>C (p.Gln2123His)
c.6090G>C (p.Gln2030His)
c.5133G>C (p.Gln1711His)
c.5124G>C (p.Gln1708His)
5g.37048662G=CA1539567752NIPBLc.6750G= (p.Gln2250=)
c.1-15916G= (n.1-15916G=)
c.6006G= (p.Gln2002=)
c.6552G= (p.Gln2184=)
c.6369G= (p.Gln2123=)
c.6090G= (p.Gln2030=)
c.5133G= (p.Gln1711=)
c.5124G= (p.Gln1708=)
5g.37048662G>TCA359508636NIPBLc.6750G>T (p.Gln2250His)
c.1-15916G>T (n.1-15916G>T)
c.6006G>T (p.Gln2002His)
c.6552G>T (p.Gln2184His)
c.6369G>T (p.Gln2123His)
c.6090G>T (p.Gln2030His)
c.5133G>T (p.Gln1711His)
c.5124G>T (p.Gln1708His)
5g.37048663G>ACA359508639NIPBLc.6751G>A (p.Ala2251Thr)
c.1-15915G>A (n.1-15915G>A)
c.6007G>A (p.Ala2003Thr)
c.6553G>A (p.Ala2185Thr)
c.6370G>A (p.Ala2124Thr)
c.6091G>A (p.Ala2031Thr)
c.5134G>A (p.Ala1712Thr)
c.5125G>A (p.Ala1709Thr)
 gnomAD v4
5g.37048663G>CCA359508637NIPBLc.6751G>C (p.Ala2251Pro)
c.1-15915G>C (n.1-15915G>C)
c.6007G>C (p.Ala2003Pro)
c.6553G>C (p.Ala2185Pro)
c.6370G>C (p.Ala2124Pro)
c.6091G>C (p.Ala2031Pro)
c.5134G>C (p.Ala1712Pro)
c.5125G>C (p.Ala1709Pro)
5g.37048663G>TCA359508638NIPBLc.6751G>T (p.Ala2251Ser)
c.1-15915G>T (n.1-15915G>T)
c.6007G>T (p.Ala2003Ser)
c.6553G>T (p.Ala2185Ser)
c.6370G>T (p.Ala2124Ser)
c.6091G>T (p.Ala2031Ser)
c.5134G>T (p.Ala1712Ser)
c.5125G>T (p.Ala1709Ser)
5g.37048664C>ACA359508640NIPBLc.6752C>A (p.Ala2251Glu)
c.1-15914C>A (n.1-15914C>A)
c.6008C>A (p.Ala2003Glu)
c.6554C>A (p.Ala2185Glu)
c.6371C>A (p.Ala2124Glu)
c.6092C>A (p.Ala2031Glu)
c.5135C>A (p.Ala1712Glu)
c.5126C>A (p.Ala1709Glu)
5g.37048664C>GCA359508641NIPBLc.6752C>G (p.Ala2251Gly)
c.1-15914C>G (n.1-15914C>G)
c.6008C>G (p.Ala2003Gly)
c.6554C>G (p.Ala2185Gly)
c.6371C>G (p.Ala2124Gly)
c.6092C>G (p.Ala2031Gly)
c.5135C>G (p.Ala1712Gly)
c.5126C>G (p.Ala1709Gly)
5g.37048664C>TCA359508642NIPBLc.6752C>T (p.Ala2251Val)
c.1-15914C>T (n.1-15914C>T)
c.6008C>T (p.Ala2003Val)
c.6554C>T (p.Ala2185Val)
c.6371C>T (p.Ala2124Val)
c.6092C>T (p.Ala2031Val)
c.5135C>T (p.Ala1712Val)
c.5126C>T (p.Ala1709Val)
 gnomAD v4
5g.37048665A>CCA443907164NIPBLc.6753A>C (p.Ala2251=)
c.1-15913A>C (n.1-15913A>C)
c.6009A>C (p.Ala2003=)
c.6555A>C (p.Ala2185=)
c.6372A>C (p.Ala2124=)
c.6093A>C (p.Ala2031=)
c.5136A>C (p.Ala1712=)
c.5127A>C (p.Ala1709=)
 gnomAD v4
5g.37048665A>GCA443907165NIPBLc.6753A>G (p.Ala2251=)
c.1-15913A>G (n.1-15913A>G)
c.6009A>G (p.Ala2003=)
c.6555A>G (p.Ala2185=)
c.6372A>G (p.Ala2124=)
c.6093A>G (p.Ala2031=)
c.5136A>G (p.Ala1712=)
c.5127A>G (p.Ala1709=)
5g.37048665A>TCA443907166NIPBLc.6753A>T (p.Ala2251=)
c.1-15913A>T (n.1-15913A>T)
c.6009A>T (p.Ala2003=)
c.6555A>T (p.Ala2185=)
c.6372A>T (p.Ala2124=)
c.6093A>T (p.Ala2031=)
c.5136A>T (p.Ala1712=)
c.5127A>T (p.Ala1709=)
5g.37048666G>ACA359508643NIPBLc.6754G>A (p.Asp2252Asn)
c.1-15912G>A (n.1-15912G>A)
c.6010G>A (p.Asp2004Asn)
c.6556G>A (p.Asp2186Asn)
c.6373G>A (p.Asp2125Asn)
c.6094G>A (p.Asp2032Asn)
c.5137G>A (p.Asp1713Asn)
c.5128G>A (p.Asp1710Asn)
5g.37048666G>CCA359508644NIPBLc.6754G>C (p.Asp2252His)
c.1-15912G>C (n.1-15912G>C)
c.6010G>C (p.Asp2004His)
c.6556G>C (p.Asp2186His)
c.6373G>C (p.Asp2125His)
c.6094G>C (p.Asp2032His)
c.5137G>C (p.Asp1713His)
c.5128G>C (p.Asp1710His)
5g.37048666G>TCA359508645NIPBLc.6754G>T (p.Asp2252Tyr)
c.1-15912G>T (n.1-15912G>T)
c.6010G>T (p.Asp2004Tyr)
c.6556G>T (p.Asp2186Tyr)
c.6373G>T (p.Asp2125Tyr)
c.6094G>T (p.Asp2032Tyr)
c.5137G>T (p.Asp1713Tyr)
c.5128G>T (p.Asp1710Tyr)
5g.37048667A>CCA359508646NIPBLc.6755A>C (p.Asp2252Ala)
c.1-15911A>C (n.1-15911A>C)
c.6011A>C (p.Asp2004Ala)
c.6557A>C (p.Asp2186Ala)
c.6374A>C (p.Asp2125Ala)
c.6095A>C (p.Asp2032Ala)
c.5138A>C (p.Asp1713Ala)
c.5129A>C (p.Asp1710Ala)
5g.37048667A>GCA359508647NIPBLc.6755A>G (p.Asp2252Gly)
c.1-15911A>G (n.1-15911A>G)
c.6011A>G (p.Asp2004Gly)
c.6557A>G (p.Asp2186Gly)
c.6374A>G (p.Asp2125Gly)
c.6095A>G (p.Asp2032Gly)
c.5138A>G (p.Asp1713Gly)
c.5129A>G (p.Asp1710Gly)
5g.37048667A>TCA359508648NIPBLc.6755A>T (p.Asp2252Val)
c.1-15911A>T (n.1-15911A>T)
c.6011A>T (p.Asp2004Val)
c.6557A>T (p.Asp2186Val)
c.6374A>T (p.Asp2125Val)
c.6095A>T (p.Asp2032Val)
c.5138A>T (p.Asp1713Val)
c.5129A>T (p.Asp1710Val)
5g.37048668delCA2578289657NIPBLc.6756del (p.Asp2252GlufsTer13)
c.1-15910del (n.1-15910del)
c.6012del (p.Asp2004GlufsTer13)
c.6558del (p.Asp2186GlufsTer13)
c.6375del (p.Asp2125GlufsTer13)
c.6096del (p.Asp2032GlufsTer13)
c.5139del (p.Asp1713GlufsTer13)
c.5130del (p.Asp1710GlufsTer13)
5g.37048668T>ACA359508649NIPBLc.6756T>A (p.Asp2252Glu)
c.1-15910T>A (n.1-15910T>A)
c.6012T>A (p.Asp2004Glu)
c.6558T>A (p.Asp2186Glu)
c.6375T>A (p.Asp2125Glu)
c.6096T>A (p.Asp2032Glu)
c.5139T>A (p.Asp1713Glu)
c.5130T>A (p.Asp1710Glu)
5g.37048668T>CCA443907167NIPBLc.6756T>C (p.Asp2252=)
c.1-15910T>C (n.1-15910T>C)
c.6012T>C (p.Asp2004=)
c.6558T>C (p.Asp2186=)
c.6375T>C (p.Asp2125=)
c.6096T>C (p.Asp2032=)
c.5139T>C (p.Asp1713=)
c.5130T>C (p.Asp1710=)
5g.37048668T>GCA359508650NIPBLc.6756T>G (p.Asp2252Glu)
c.1-15910T>G (n.1-15910T>G)
c.6012T>G (p.Asp2004Glu)
c.6558T>G (p.Asp2186Glu)
c.6375T>G (p.Asp2125Glu)
c.6096T>G (p.Asp2032Glu)
c.5139T>G (p.Asp1713Glu)
c.5130T>G (p.Asp1710Glu)
5g.37048669A>CCA443907168NIPBLc.6757A>C (p.Arg2253=)
c.1-15909A>C (n.1-15909A>C)
c.6013A>C (p.Arg2005=)
c.6559A>C (p.Arg2187=)
c.6376A>C (p.Arg2126=)
c.6097A>C (p.Arg2033=)
c.5140A>C (p.Arg1714=)
c.5131A>C (p.Arg1711=)
5g.37048669A>GCA359508651NIPBLc.6757A>G (p.Arg2253Gly)
c.1-15909A>G (n.1-15909A>G)
c.6013A>G (p.Arg2005Gly)
c.6559A>G (p.Arg2187Gly)
c.6376A>G (p.Arg2126Gly)
c.6097A>G (p.Arg2033Gly)
c.5140A>G (p.Arg1714Gly)
c.5131A>G (p.Arg1711Gly)
5g.37048669A>TCA359508652NIPBLc.6757A>T (p.Arg2253Ter)
c.1-15909A>T (n.1-15909A>T)
c.6013A>T (p.Arg2005Ter)
c.6559A>T (p.Arg2187Ter)
c.6376A>T (p.Arg2126Ter)
c.6097A>T (p.Arg2033Ter)
c.5140A>T (p.Arg1714Ter)
c.5131A>T (p.Arg1711Ter)
5g.37048672_37048673delCA2580612757NIPBLc.6760_6761del (p.Asp2254LeufsTer15)
c.1-15906_1-15905del (n.1-15906_1-15905del)
c.6016_6017del (p.Asp2006LeufsTer15)
c.6562_6563del (p.Asp2188LeufsTer15)
c.6379_6380del (p.Asp2127LeufsTer15)
c.6100_6101del (p.Asp2034LeufsTer15)
c.5143_5144del (p.Asp1715LeufsTer15)
c.5134_5135del (p.Asp1712LeufsTer15)
 ClinVar dbSNP
5g.37048670G>ACA359508653NIPBLc.6758G>A (p.Arg2253Lys)
c.1-15908G>A (n.1-15908G>A)
c.6014G>A (p.Arg2005Lys)
c.6560G>A (p.Arg2187Lys)
c.6377G>A (p.Arg2126Lys)
c.6098G>A (p.Arg2033Lys)
c.5141G>A (p.Arg1714Lys)
c.5132G>A (p.Arg1711Lys)
5g.37048670G>CCA359508655NIPBLc.6758G>C (p.Arg2253Thr)
c.1-15908G>C (n.1-15908G>C)
c.6014G>C (p.Arg2005Thr)
c.6560G>C (p.Arg2187Thr)
c.6377G>C (p.Arg2126Thr)
c.6098G>C (p.Arg2033Thr)
c.5141G>C (p.Arg1714Thr)
c.5132G>C (p.Arg1711Thr)
5g.37048670G>TCA359508654NIPBLc.6758G>T (p.Arg2253Ile)
c.1-15908G>T (n.1-15908G>T)
c.6014G>T (p.Arg2005Ile)
c.6560G>T (p.Arg2187Ile)
c.6377G>T (p.Arg2126Ile)
c.6098G>T (p.Arg2033Ile)
c.5141G>T (p.Arg1714Ile)
c.5132G>T (p.Arg1711Ile)
5g.37048671A>CCA359508656NIPBLc.6759A>C (p.Arg2253Ser)
c.1-15907A>C (n.1-15907A>C)
c.6015A>C (p.Arg2005Ser)
c.6561A>C (p.Arg2187Ser)
c.6378A>C (p.Arg2126Ser)
c.6099A>C (p.Arg2033Ser)
c.5142A>C (p.Arg1714Ser)
c.5133A>C (p.Arg1711Ser)
5g.37048671A>GCA443907169NIPBLc.6759A>G (p.Arg2253=)
c.1-15907A>G (n.1-15907A>G)
c.6015A>G (p.Arg2005=)
c.6561A>G (p.Arg2187=)
c.6378A>G (p.Arg2126=)
c.6099A>G (p.Arg2033=)
c.5142A>G (p.Arg1714=)
c.5133A>G (p.Arg1711=)
5g.37048671A>TCA359508657NIPBLc.6759A>T (p.Arg2253Ser)
c.1-15907A>T (n.1-15907A>T)
c.6015A>T (p.Arg2005Ser)
c.6561A>T (p.Arg2187Ser)
c.6378A>T (p.Arg2126Ser)
c.6099A>T (p.Arg2033Ser)
c.5142A>T (p.Arg1714Ser)
c.5133A>T (p.Arg1711Ser)
5g.37048672G>ACA359508658NIPBLc.6760G>A (p.Asp2254Asn)
c.1-15906G>A (n.1-15906G>A)
c.6016G>A (p.Asp2006Asn)
c.6562G>A (p.Asp2188Asn)
c.6379G>A (p.Asp2127Asn)
c.6100G>A (p.Asp2034Asn)
c.5143G>A (p.Asp1715Asn)
c.5134G>A (p.Asp1712Asn)
5g.37048672G>CCA359508659NIPBLc.6760G>C (p.Asp2254His)
c.1-15906G>C (n.1-15906G>C)
c.6016G>C (p.Asp2006His)
c.6562G>C (p.Asp2188His)
c.6379G>C (p.Asp2127His)
c.6100G>C (p.Asp2034His)
c.5143G>C (p.Asp1715His)
c.5134G>C (p.Asp1712His)
5g.37048672G>TCA359508660NIPBLc.6760G>T (p.Asp2254Tyr)
c.1-15906G>T (n.1-15906G>T)
c.6016G>T (p.Asp2006Tyr)
c.6562G>T (p.Asp2188Tyr)
c.6379G>T (p.Asp2127Tyr)
c.6100G>T (p.Asp2034Tyr)
c.5143G>T (p.Asp1715Tyr)
c.5134G>T (p.Asp1712Tyr)
5g.37048673A>CCA359508661NIPBLc.6761A>C (p.Asp2254Ala)
c.1-15905A>C (n.1-15905A>C)
c.6017A>C (p.Asp2006Ala)
c.6563A>C (p.Asp2188Ala)
c.6380A>C (p.Asp2127Ala)
c.6101A>C (p.Asp2034Ala)
c.5144A>C (p.Asp1715Ala)
c.5135A>C (p.Asp1712Ala)
5g.37048673A>GCA359508662NIPBLc.6761A>G (p.Asp2254Gly)
c.1-15905A>G (n.1-15905A>G)
c.6017A>G (p.Asp2006Gly)
c.6563A>G (p.Asp2188Gly)
c.6380A>G (p.Asp2127Gly)
c.6101A>G (p.Asp2034Gly)
c.5144A>G (p.Asp1715Gly)
c.5135A>G (p.Asp1712Gly)
5g.37048673A>TCA359508663NIPBLc.6761A>T (p.Asp2254Val)
c.1-15905A>T (n.1-15905A>T)
c.6017A>T (p.Asp2006Val)
c.6563A>T (p.Asp2188Val)
c.6380A>T (p.Asp2127Val)
c.6101A>T (p.Asp2034Val)
c.5144A>T (p.Asp1715Val)
c.5135A>T (p.Asp1712Val)
5g.37048674C>ACA117048746NIPBLc.6762C>A (p.Asp2254Glu)
c.1-15904C>A (n.1-15904C>A)
c.6018C>A (p.Asp2006Glu)
c.6564C>A (p.Asp2188Glu)
c.6381C>A (p.Asp2127Glu)
c.6102C>A (p.Asp2034Glu)
c.5145C>A (p.Asp1715Glu)
c.5136C>A (p.Asp1712Glu)
 dbSNP gnomAD v4
5g.37048674C=CA1539567757NIPBLc.6762C= (p.Asp2254=)
c.1-15904C= (n.1-15904C=)
c.6018C= (p.Asp2006=)
c.6564C= (p.Asp2188=)
c.6381C= (p.Asp2127=)
c.6102C= (p.Asp2034=)
c.5145C= (p.Asp1715=)
c.5136C= (p.Asp1712=)
5g.37048674C>GCA359508664NIPBLc.6762C>G (p.Asp2254Glu)
c.1-15904C>G (n.1-15904C>G)
c.6018C>G (p.Asp2006Glu)
c.6564C>G (p.Asp2188Glu)
c.6381C>G (p.Asp2127Glu)
c.6102C>G (p.Asp2034Glu)
c.5145C>G (p.Asp1715Glu)
c.5136C>G (p.Asp1712Glu)
5g.37048674C>TCA443907170NIPBLc.6762C>T (p.Asp2254=)
c.1-15904C>T (n.1-15904C>T)
c.6018C>T (p.Asp2006=)
c.6564C>T (p.Asp2188=)
c.6381C>T (p.Asp2127=)
c.6102C>T (p.Asp2034=)
c.5145C>T (p.Asp1715=)
c.5136C>T (p.Asp1712=)
5g.37048675T>ACA245035NIPBLc.6763T>A (p.Trp2255Arg)
c.1-15903T>A (n.1-15903T>A)
c.6019T>A (p.Trp2007Arg)
c.6565T>A (p.Trp2189Arg)
c.6382T>A (p.Trp2128Arg)
c.6103T>A (p.Trp2035Arg)
c.5146T>A (p.Trp1716Arg)
c.5137T>A (p.Trp1713Arg)
 ClinVar dbSNP
5g.37048675T>CCA359508665NIPBLc.6763T>C (p.Trp2255Arg)
c.1-15903T>C (n.1-15903T>C)
c.6019T>C (p.Trp2007Arg)
c.6565T>C (p.Trp2189Arg)
c.6382T>C (p.Trp2128Arg)
c.6103T>C (p.Trp2035Arg)
c.5146T>C (p.Trp1716Arg)
c.5137T>C (p.Trp1713Arg)
5g.37048675T>GCA359508666NIPBLc.6763T>G (p.Trp2255Gly)
c.1-15903T>G (n.1-15903T>G)
c.6019T>G (p.Trp2007Gly)
c.6565T>G (p.Trp2189Gly)
c.6382T>G (p.Trp2128Gly)
c.6103T>G (p.Trp2035Gly)
c.5146T>G (p.Trp1716Gly)
c.5137T>G (p.Trp1713Gly)
5g.37048675T=CA1539567769NIPBLc.6763T= (p.Trp2255=)
c.1-15903T= (n.1-15903T=)
c.6019T= (p.Trp2007=)
c.6565T= (p.Trp2189=)
c.6382T= (p.Trp2128=)
c.6103T= (p.Trp2035=)
c.5146T= (p.Trp1716=)
c.5137T= (p.Trp1713=)
5g.37048676_37048677delCA2825001417NIPBLc.6763+1_6763+2del
c.1-15902_1-15901del (n.1-15902_1-15901del)
c.6019+1_6019+2del
c.6565+1_6565+2del
c.6382+1_6382+2del
c.6103+1_6103+2del
c.5146+1_5146+2del
c.5137+1_5137+2del
 ClinVar
5g.37048676G>ACA359508667NIPBLc.6763+1G>A (n.6763+1G>A)
c.1-15902G>A (n.1-15902G>A)
c.6019+1G>A (n.6019+1G>A)
c.6565+1G>A (n.6565+1G>A)
c.6382+1G>A (n.6382+1G>A)
c.6103+1G>A (n.6103+1G>A)
c.5146+1G>A (n.5146+1G>A)
c.5137+1G>A (n.5137+1G>A)
 ClinVar dbSNP gnomAD v4
5g.37048676G>CCA359508669NIPBLc.6763+1G>C (n.6763+1G>C)
c.1-15902G>C (n.1-15902G>C)
c.6019+1G>C (n.6019+1G>C)
c.6565+1G>C (n.6565+1G>C)
c.6382+1G>C (n.6382+1G>C)
c.6103+1G>C (n.6103+1G>C)
c.5146+1G>C (n.5146+1G>C)
c.5137+1G>C (n.5137+1G>C)
5g.37048676G=CA1539567774NIPBLc.6763+1G= (n.6763+1G=)
c.1-15902G= (n.1-15902G=)
c.6019+1G= (n.6019+1G=)
c.6565+1G= (n.6565+1G=)
c.6382+1G= (n.6382+1G=)
c.6103+1G= (n.6103+1G=)
c.5146+1G= (n.5146+1G=)
c.5137+1G= (n.5137+1G=)
5g.37048676G>TCA359508668NIPBLc.6763+1G>T (n.6763+1G>T)
c.1-15902G>T (n.1-15902G>T)
c.6019+1G>T (n.6019+1G>T)
c.6565+1G>T (n.6565+1G>T)
c.6382+1G>T (n.6382+1G>T)
c.6103+1G>T (n.6103+1G>T)
c.5146+1G>T (n.5146+1G>T)
c.5137+1G>T (n.5137+1G>T)
 gnomAD v4
5g.37048677T>ACA359508670NIPBLc.6763+2T>A (n.6763+2T>A)
c.1-15901T>A (n.1-15901T>A)
c.6019+2T>A (n.6019+2T>A)
c.6565+2T>A (n.6565+2T>A)
c.6382+2T>A (n.6382+2T>A)
c.6103+2T>A (n.6103+2T>A)
c.5146+2T>A (n.5146+2T>A)
c.5137+2T>A (n.5137+2T>A)
5g.37048677T>CCA359508671NIPBLc.6763+2T>C (n.6763+2T>C)
c.1-15901T>C (n.1-15901T>C)
c.6019+2T>C (n.6019+2T>C)
c.6565+2T>C (n.6565+2T>C)
c.6382+2T>C (n.6382+2T>C)
c.6103+2T>C (n.6103+2T>C)
c.5146+2T>C (n.5146+2T>C)
c.5137+2T>C (n.5137+2T>C)
5g.37048677T>GCA359508672NIPBLc.6763+2T>G (n.6763+2T>G)
c.1-15901T>G (n.1-15901T>G)
c.6019+2T>G (n.6019+2T>G)
c.6565+2T>G (n.6565+2T>G)
c.6382+2T>G (n.6382+2T>G)
c.6103+2T>G (n.6103+2T>G)
c.5146+2T>G (n.5146+2T>G)
c.5137+2T>G (n.5137+2T>G)

Number of alleles fetched