Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.37000857G>ACA443904516NIPBLc.3543G>A (p.Arg1181=)
c.1-63721G>A (n.1-63721G>A)
c.2799G>A (p.Arg933=)
c.3345G>A (p.Arg1115=)
c.3162G>A (p.Arg1054=)
c.2883G>A (p.Arg961=)
c.1926G>A (p.Arg642=)
c.1917G>A (p.Arg639=)
 dbSNP
5g.37000857G>CCA359518258NIPBLc.3543G>C (p.Arg1181Ser)
c.1-63721G>C (n.1-63721G>C)
c.2799G>C (p.Arg933Ser)
c.3345G>C (p.Arg1115Ser)
c.3162G>C (p.Arg1054Ser)
c.2883G>C (p.Arg961Ser)
c.1926G>C (p.Arg642Ser)
c.1917G>C (p.Arg639Ser)
5g.37000857G=CA1539601355NIPBLc.3543G= (p.Arg1181=)
c.1-63721G= (n.1-63721G=)
c.2799G= (p.Arg933=)
c.3345G= (p.Arg1115=)
c.3162G= (p.Arg1054=)
c.2883G= (p.Arg961=)
c.1926G= (p.Arg642=)
c.1917G= (p.Arg639=)
5g.37000857G>TCA359518260NIPBLc.3543G>T (p.Arg1181Ser)
c.1-63721G>T (n.1-63721G>T)
c.2799G>T (p.Arg933Ser)
c.3345G>T (p.Arg1115Ser)
c.3162G>T (p.Arg1054Ser)
c.2883G>T (p.Arg961Ser)
c.1926G>T (p.Arg642Ser)
c.1917G>T (p.Arg639Ser)
5g.37000858A>CCA359518266NIPBLc.3544A>C (p.Lys1182Gln)
c.1-63720A>C (n.1-63720A>C)
c.2800A>C (p.Lys934Gln)
c.3346A>C (p.Lys1116Gln)
c.3163A>C (p.Lys1055Gln)
c.2884A>C (p.Lys962Gln)
c.1927A>C (p.Lys643Gln)
c.1918A>C (p.Lys640Gln)
5g.37000858A>GCA359518268NIPBLc.3544A>G (p.Lys1182Glu)
c.1-63720A>G (n.1-63720A>G)
c.2800A>G (p.Lys934Glu)
c.3346A>G (p.Lys1116Glu)
c.3163A>G (p.Lys1055Glu)
c.2884A>G (p.Lys962Glu)
c.1927A>G (p.Lys643Glu)
c.1918A>G (p.Lys640Glu)
5g.37000858A>TCA359518270NIPBLc.3544A>T (p.Lys1182Ter)
c.1-63720A>T (n.1-63720A>T)
c.2800A>T (p.Lys934Ter)
c.3346A>T (p.Lys1116Ter)
c.3163A>T (p.Lys1055Ter)
c.2884A>T (p.Lys962Ter)
c.1927A>T (p.Lys643Ter)
c.1918A>T (p.Lys640Ter)
5g.37000860dupCA2673574835NIPBLc.3546dup (p.Ala1183SerfsTer3)
c.1-63718dup (n.1-63718dup)
c.2802dup (p.Ala935SerfsTer3)
c.3348dup (p.Ala1117SerfsTer3)
c.3165dup (p.Ala1056SerfsTer3)
c.2886dup (p.Ala963SerfsTer3)
c.1929dup (p.Ala644SerfsTer3)
c.1920dup (p.Ala641SerfsTer3)
 gnomAD v4
5g.37000859A>CCA359518280NIPBLc.3545A>C (p.Lys1182Thr)
c.1-63719A>C (n.1-63719A>C)
c.2801A>C (p.Lys934Thr)
c.3347A>C (p.Lys1116Thr)
c.3164A>C (p.Lys1055Thr)
c.2885A>C (p.Lys962Thr)
c.1928A>C (p.Lys643Thr)
c.1919A>C (p.Lys640Thr)
5g.37000859A>GCA359518283NIPBLc.3545A>G (p.Lys1182Arg)
c.1-63719A>G (n.1-63719A>G)
c.2801A>G (p.Lys934Arg)
c.3347A>G (p.Lys1116Arg)
c.3164A>G (p.Lys1055Arg)
c.2885A>G (p.Lys962Arg)
c.1928A>G (p.Lys643Arg)
c.1919A>G (p.Lys640Arg)
5g.37000859A>TCA359518286NIPBLc.3545A>T (p.Lys1182Ile)
c.1-63719A>T (n.1-63719A>T)
c.2801A>T (p.Lys934Ile)
c.3347A>T (p.Lys1116Ile)
c.3164A>T (p.Lys1055Ile)
c.2885A>T (p.Lys962Ile)
c.1928A>T (p.Lys643Ile)
c.1919A>T (p.Lys640Ile)
 gnomAD v4
5g.37000860A>CCA359518292NIPBLc.3546A>C (p.Lys1182Asn)
c.1-63718A>C (n.1-63718A>C)
c.2802A>C (p.Lys934Asn)
c.3348A>C (p.Lys1116Asn)
c.3165A>C (p.Lys1055Asn)
c.2886A>C (p.Lys962Asn)
c.1929A>C (p.Lys643Asn)
c.1920A>C (p.Lys640Asn)
5g.37000860A>GCA443904519NIPBLc.3546A>G (p.Lys1182=)
c.1-63718A>G (n.1-63718A>G)
c.2802A>G (p.Lys934=)
c.3348A>G (p.Lys1116=)
c.3165A>G (p.Lys1055=)
c.2886A>G (p.Lys962=)
c.1929A>G (p.Lys643=)
c.1920A>G (p.Lys640=)
 gnomAD v4
5g.37000860A>TCA359518289NIPBLc.3546A>T (p.Lys1182Asn)
c.1-63718A>T (n.1-63718A>T)
c.2802A>T (p.Lys934Asn)
c.3348A>T (p.Lys1116Asn)
c.3165A>T (p.Lys1055Asn)
c.2886A>T (p.Lys962Asn)
c.1929A>T (p.Lys643Asn)
c.1920A>T (p.Lys640Asn)
5g.37000861G>ACA359518294NIPBLc.3547G>A (p.Ala1183Thr)
c.1-63717G>A (n.1-63717G>A)
c.2803G>A (p.Ala935Thr)
c.3349G>A (p.Ala1117Thr)
c.3166G>A (p.Ala1056Thr)
c.2887G>A (p.Ala963Thr)
c.1930G>A (p.Ala644Thr)
c.1921G>A (p.Ala641Thr)
5g.37000861G>CCA359518297NIPBLc.3547G>C (p.Ala1183Pro)
c.1-63717G>C (n.1-63717G>C)
c.2803G>C (p.Ala935Pro)
c.3349G>C (p.Ala1117Pro)
c.3166G>C (p.Ala1056Pro)
c.2887G>C (p.Ala963Pro)
c.1930G>C (p.Ala644Pro)
c.1921G>C (p.Ala641Pro)
5g.37000861G>TCA359518299NIPBLc.3547G>T (p.Ala1183Ser)
c.1-63717G>T (n.1-63717G>T)
c.2803G>T (p.Ala935Ser)
c.3349G>T (p.Ala1117Ser)
c.3166G>T (p.Ala1056Ser)
c.2887G>T (p.Ala963Ser)
c.1930G>T (p.Ala644Ser)
c.1921G>T (p.Ala641Ser)
5g.37000862C>ACA359518301NIPBLc.3548C>A (p.Ala1183Glu)
c.1-63716C>A (n.1-63716C>A)
c.2804C>A (p.Ala935Glu)
c.3350C>A (p.Ala1117Glu)
c.3167C>A (p.Ala1056Glu)
c.2888C>A (p.Ala963Glu)
c.1931C>A (p.Ala644Glu)
c.1922C>A (p.Ala641Glu)
5g.37000862C=CA1539601359NIPBLc.3548C= (p.Ala1183=)
c.1-63716C= (n.1-63716C=)
c.2804C= (p.Ala935=)
c.3350C= (p.Ala1117=)
c.3167C= (p.Ala1056=)
c.2888C= (p.Ala963=)
c.1931C= (p.Ala644=)
c.1922C= (p.Ala641=)
5g.37000862C>GCA117056434NIPBLc.3548C>G (p.Ala1183Gly)
c.1-63716C>G (n.1-63716C>G)
c.2804C>G (p.Ala935Gly)
c.3350C>G (p.Ala1117Gly)
c.3167C>G (p.Ala1056Gly)
c.2888C>G (p.Ala963Gly)
c.1931C>G (p.Ala644Gly)
c.1922C>G (p.Ala641Gly)
 dbSNP gnomAD v4
5g.37000862C>TCA359518305NIPBLc.3548C>T (p.Ala1183Val)
c.1-63716C>T (n.1-63716C>T)
c.2804C>T (p.Ala935Val)
c.3350C>T (p.Ala1117Val)
c.3167C>T (p.Ala1056Val)
c.2888C>T (p.Ala963Val)
c.1931C>T (p.Ala644Val)
c.1922C>T (p.Ala641Val)
 ClinVar dbSNP
5g.37000863A>CCA443904521NIPBLc.3549A>C (p.Ala1183=)
c.1-63715A>C (n.1-63715A>C)
c.2805A>C (p.Ala935=)
c.3351A>C (p.Ala1117=)
c.3168A>C (p.Ala1056=)
c.2889A>C (p.Ala963=)
c.1932A>C (p.Ala644=)
c.1923A>C (p.Ala641=)
5g.37000863A>GCA443904522NIPBLc.3549A>G (p.Ala1183=)
c.1-63715A>G (n.1-63715A>G)
c.2805A>G (p.Ala935=)
c.3351A>G (p.Ala1117=)
c.3168A>G (p.Ala1056=)
c.2889A>G (p.Ala963=)
c.1932A>G (p.Ala644=)
c.1923A>G (p.Ala641=)
 gnomAD v4
5g.37000863A>TCA443904524NIPBLc.3549A>T (p.Ala1183=)
c.1-63715A>T (n.1-63715A>T)
c.2805A>T (p.Ala935=)
c.3351A>T (p.Ala1117=)
c.3168A>T (p.Ala1056=)
c.2889A>T (p.Ala963=)
c.1932A>T (p.Ala644=)
c.1923A>T (p.Ala641=)
5g.37000864T>ACA359518313NIPBLc.3550T>A (p.Tyr1184Asn)
c.1-63714T>A (n.1-63714T>A)
c.2806T>A (p.Tyr936Asn)
c.3352T>A (p.Tyr1118Asn)
c.3169T>A (p.Tyr1057Asn)
c.2890T>A (p.Tyr964Asn)
c.1933T>A (p.Tyr645Asn)
c.1924T>A (p.Tyr642Asn)
5g.37000864T>CCA359518309NIPBLc.3550T>C (p.Tyr1184His)
c.1-63714T>C (n.1-63714T>C)
c.2806T>C (p.Tyr936His)
c.3352T>C (p.Tyr1118His)
c.3169T>C (p.Tyr1057His)
c.2890T>C (p.Tyr964His)
c.1933T>C (p.Tyr645His)
c.1924T>C (p.Tyr642His)
5g.37000864T>GCA359518310NIPBLc.3550T>G (p.Tyr1184Asp)
c.1-63714T>G (n.1-63714T>G)
c.2806T>G (p.Tyr936Asp)
c.3352T>G (p.Tyr1118Asp)
c.3169T>G (p.Tyr1057Asp)
c.2890T>G (p.Tyr964Asp)
c.1933T>G (p.Tyr645Asp)
c.1924T>G (p.Tyr642Asp)
5g.37000865A>CCA359518319NIPBLc.3551A>C (p.Tyr1184Ser)
c.1-63713A>C (n.1-63713A>C)
c.2807A>C (p.Tyr936Ser)
c.3353A>C (p.Tyr1118Ser)
c.3170A>C (p.Tyr1057Ser)
c.2891A>C (p.Tyr964Ser)
c.1934A>C (p.Tyr645Ser)
c.1925A>C (p.Tyr642Ser)
5g.37000865A>GCA359518323NIPBLc.3551A>G (p.Tyr1184Cys)
c.1-63713A>G (n.1-63713A>G)
c.2807A>G (p.Tyr936Cys)
c.3353A>G (p.Tyr1118Cys)
c.3170A>G (p.Tyr1057Cys)
c.2891A>G (p.Tyr964Cys)
c.1934A>G (p.Tyr645Cys)
c.1925A>G (p.Tyr642Cys)
5g.37000865A>TCA359518327NIPBLc.3551A>T (p.Tyr1184Phe)
c.1-63713A>T (n.1-63713A>T)
c.2807A>T (p.Tyr936Phe)
c.3353A>T (p.Tyr1118Phe)
c.3170A>T (p.Tyr1057Phe)
c.2891A>T (p.Tyr964Phe)
c.1934A>T (p.Tyr645Phe)
c.1925A>T (p.Tyr642Phe)
5g.37000866T>ACA359518330NIPBLc.3552T>A (p.Tyr1184Ter)
c.1-63712T>A (n.1-63712T>A)
c.2808T>A (p.Tyr936Ter)
c.3354T>A (p.Tyr1118Ter)
c.3171T>A (p.Tyr1057Ter)
c.2892T>A (p.Tyr964Ter)
c.1935T>A (p.Tyr645Ter)
c.1926T>A (p.Tyr642Ter)
5g.37000866T>CCA443904527NIPBLc.3552T>C (p.Tyr1184=)
c.1-63712T>C (n.1-63712T>C)
c.2808T>C (p.Tyr936=)
c.3354T>C (p.Tyr1118=)
c.3171T>C (p.Tyr1057=)
c.2892T>C (p.Tyr964=)
c.1935T>C (p.Tyr645=)
c.1926T>C (p.Tyr642=)
5g.37000866T>GCA359518331NIPBLc.3552T>G (p.Tyr1184Ter)
c.1-63712T>G (n.1-63712T>G)
c.2808T>G (p.Tyr936Ter)
c.3354T>G (p.Tyr1118Ter)
c.3171T>G (p.Tyr1057Ter)
c.2892T>G (p.Tyr964Ter)
c.1935T>G (p.Tyr645Ter)
c.1926T>G (p.Tyr642Ter)
5g.37000867G>ACA359518332NIPBLc.3553G>A (p.Glu1185Lys)
c.1-63711G>A (n.1-63711G>A)
c.2809G>A (p.Glu937Lys)
c.3355G>A (p.Glu1119Lys)
c.3172G>A (p.Glu1058Lys)
c.2893G>A (p.Glu965Lys)
c.1936G>A (p.Glu646Lys)
c.1927G>A (p.Glu643Lys)
5g.37000867G>CCA359518335NIPBLc.3553G>C (p.Glu1185Gln)
c.1-63711G>C (n.1-63711G>C)
c.2809G>C (p.Glu937Gln)
c.3355G>C (p.Glu1119Gln)
c.3172G>C (p.Glu1058Gln)
c.2893G>C (p.Glu965Gln)
c.1936G>C (p.Glu646Gln)
c.1927G>C (p.Glu643Gln)
5g.37000867G>TCA359518333NIPBLc.3553G>T (p.Glu1185Ter)
c.1-63711G>T (n.1-63711G>T)
c.2809G>T (p.Glu937Ter)
c.3355G>T (p.Glu1119Ter)
c.3172G>T (p.Glu1058Ter)
c.2893G>T (p.Glu965Ter)
c.1936G>T (p.Glu646Ter)
c.1927G>T (p.Glu643Ter)
5g.37000868A>CCA359518337NIPBLc.3554A>C (p.Glu1185Ala)
c.1-63710A>C (n.1-63710A>C)
c.2810A>C (p.Glu937Ala)
c.3356A>C (p.Glu1119Ala)
c.3173A>C (p.Glu1058Ala)
c.2894A>C (p.Glu965Ala)
c.1937A>C (p.Glu646Ala)
c.1928A>C (p.Glu643Ala)
5g.37000868A>GCA359518339NIPBLc.3554A>G (p.Glu1185Gly)
c.1-63710A>G (n.1-63710A>G)
c.2810A>G (p.Glu937Gly)
c.3356A>G (p.Glu1119Gly)
c.3173A>G (p.Glu1058Gly)
c.2894A>G (p.Glu965Gly)
c.1937A>G (p.Glu646Gly)
c.1928A>G (p.Glu643Gly)
5g.37000868A>TCA359518342NIPBLc.3554A>T (p.Glu1185Val)
c.1-63710A>T (n.1-63710A>T)
c.2810A>T (p.Glu937Val)
c.3356A>T (p.Glu1119Val)
c.3173A>T (p.Glu1058Val)
c.2894A>T (p.Glu965Val)
c.1937A>T (p.Glu646Val)
c.1928A>T (p.Glu643Val)
5g.37000869A>CCA359518343NIPBLc.3555A>C (p.Glu1185Asp)
c.1-63709A>C (n.1-63709A>C)
c.2811A>C (p.Glu937Asp)
c.3357A>C (p.Glu1119Asp)
c.3174A>C (p.Glu1058Asp)
c.2895A>C (p.Glu965Asp)
c.1938A>C (p.Glu646Asp)
c.1929A>C (p.Glu643Asp)
5g.37000869A>GCA443904529NIPBLc.3555A>G (p.Glu1185=)
c.1-63709A>G (n.1-63709A>G)
c.2811A>G (p.Glu937=)
c.3357A>G (p.Glu1119=)
c.3174A>G (p.Glu1058=)
c.2895A>G (p.Glu965=)
c.1938A>G (p.Glu646=)
c.1929A>G (p.Glu643=)
5g.37000869A>TCA359518344NIPBLc.3555A>T (p.Glu1185Asp)
c.1-63709A>T (n.1-63709A>T)
c.2811A>T (p.Glu937Asp)
c.3357A>T (p.Glu1119Asp)
c.3174A>T (p.Glu1058Asp)
c.2895A>T (p.Glu965Asp)
c.1938A>T (p.Glu646Asp)
c.1929A>T (p.Glu643Asp)
5g.37000870C>ACA359518345NIPBLc.3556C>A (p.Pro1186Thr)
c.1-63708C>A (n.1-63708C>A)
c.2812C>A (p.Pro938Thr)
c.3358C>A (p.Pro1120Thr)
c.3175C>A (p.Pro1059Thr)
c.2896C>A (p.Pro966Thr)
c.1939C>A (p.Pro647Thr)
c.1930C>A (p.Pro644Thr)
5g.37000870C>GCA359518347NIPBLc.3556C>G (p.Pro1186Ala)
c.1-63708C>G (n.1-63708C>G)
c.2812C>G (p.Pro938Ala)
c.3358C>G (p.Pro1120Ala)
c.3175C>G (p.Pro1059Ala)
c.2896C>G (p.Pro966Ala)
c.1939C>G (p.Pro647Ala)
c.1930C>G (p.Pro644Ala)
5g.37000870C>TCA359518349NIPBLc.3556C>T (p.Pro1186Ser)
c.1-63708C>T (n.1-63708C>T)
c.2812C>T (p.Pro938Ser)
c.3358C>T (p.Pro1120Ser)
c.3175C>T (p.Pro1059Ser)
c.2896C>T (p.Pro966Ser)
c.1939C>T (p.Pro647Ser)
c.1930C>T (p.Pro644Ser)
5g.37000871C>ACA117056439NIPBLc.3557C>A (p.Pro1186Gln)
c.1-63707C>A (n.1-63707C>A)
c.2813C>A (p.Pro938Gln)
c.3359C>A (p.Pro1120Gln)
c.3176C>A (p.Pro1059Gln)
c.2897C>A (p.Pro966Gln)
c.1940C>A (p.Pro647Gln)
c.1931C>A (p.Pro644Gln)
 dbSNP
5g.37000871C=CA1539601364NIPBLc.3557C= (p.Pro1186=)
c.1-63707C= (n.1-63707C=)
c.2813C= (p.Pro938=)
c.3359C= (p.Pro1120=)
c.3176C= (p.Pro1059=)
c.2897C= (p.Pro966=)
c.1940C= (p.Pro647=)
c.1931C= (p.Pro644=)
5g.37000871C>GCA117056440NIPBLc.3557C>G (p.Pro1186Arg)
c.1-63707C>G (n.1-63707C>G)
c.2813C>G (p.Pro938Arg)
c.3359C>G (p.Pro1120Arg)
c.3176C>G (p.Pro1059Arg)
c.2897C>G (p.Pro966Arg)
c.1940C>G (p.Pro647Arg)
c.1931C>G (p.Pro644Arg)
 dbSNP
5g.37000871C>TCA359518358NIPBLc.3557C>T (p.Pro1186Leu)
c.1-63707C>T (n.1-63707C>T)
c.2813C>T (p.Pro938Leu)
c.3359C>T (p.Pro1120Leu)
c.3176C>T (p.Pro1059Leu)
c.2897C>T (p.Pro966Leu)
c.1940C>T (p.Pro647Leu)
c.1931C>T (p.Pro644Leu)
5g.37000872A>CCA443904531NIPBLc.3558A>C (p.Pro1186=)
c.1-63706A>C (n.1-63706A>C)
c.2814A>C (p.Pro938=)
c.3360A>C (p.Pro1120=)
c.3177A>C (p.Pro1059=)
c.2898A>C (p.Pro966=)
c.1941A>C (p.Pro647=)
c.1932A>C (p.Pro644=)

Number of alleles fetched