Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.37000839dupCA2695204248NIPBLc.3525dup (p.Glu1176ArgfsTer10)
c.1-63739dup (n.1-63739dup)
c.2781dup (p.Glu928ArgfsTer10)
c.3327dup (p.Glu1110ArgfsTer10)
c.3144dup (p.Glu1049ArgfsTer10)
c.2865dup (p.Glu956ArgfsTer10)
c.1908dup (p.Glu637ArgfsTer10)
c.1899dup (p.Glu634ArgfsTer10)
5g.37000835_37000840delinsAAAAAGCA1539601303NIPBLc.3521_3526delinsAAAAAG (p.Lys1174=)
c.1-63743_1-63738delinsAAAAAG (n.1-63743_1-63738delinsAAAAAG)
c.2777_2782delinsAAAAAG (p.Lys926=)
c.3323_3328delinsAAAAAG (p.Lys1108=)
c.3140_3145delinsAAAAAG (p.Lys1047=)
c.2861_2866delinsAAAAAG (p.Lys954=)
c.1904_1909delinsAAAAAG (p.Lys635=)
c.1895_1900delinsAAAAAG (p.Lys632=)
5g.37000840_37000844delCA272070NIPBLc.3526_3530del (p.Glu1176ThrfsTer8)
c.1-63738_1-63734del (n.1-63738_1-63734del)
c.2782_2786del (p.Glu928ThrfsTer8)
c.3328_3332del (p.Glu1110ThrfsTer8)
c.3145_3149del (p.Glu1049ThrfsTer8)
c.2866_2870del (p.Glu956ThrfsTer8)
c.1909_1913del (p.Glu637ThrfsTer8)
c.1900_1904del (p.Glu634ThrfsTer8)
 ClinVar dbSNP
5g.37000837A>CCA359518088NIPBLc.3523A>C (p.Lys1175Gln)
c.1-63741A>C (n.1-63741A>C)
c.2779A>C (p.Lys927Gln)
c.3325A>C (p.Lys1109Gln)
c.3142A>C (p.Lys1048Gln)
c.2863A>C (p.Lys955Gln)
c.1906A>C (p.Lys636Gln)
c.1897A>C (p.Lys633Gln)
5g.37000837A>GCA359518089NIPBLc.3523A>G (p.Lys1175Glu)
c.1-63741A>G (n.1-63741A>G)
c.2779A>G (p.Lys927Glu)
c.3325A>G (p.Lys1109Glu)
c.3142A>G (p.Lys1048Glu)
c.2863A>G (p.Lys955Glu)
c.1906A>G (p.Lys636Glu)
c.1897A>G (p.Lys633Glu)
 gnomAD v4
5g.37000837A>TCA359518090NIPBLc.3523A>T (p.Lys1175Ter)
c.1-63741A>T (n.1-63741A>T)
c.2779A>T (p.Lys927Ter)
c.3325A>T (p.Lys1109Ter)
c.3142A>T (p.Lys1048Ter)
c.2863A>T (p.Lys955Ter)
c.1906A>T (p.Lys636Ter)
c.1897A>T (p.Lys633Ter)
5g.37000838A=CA1539601315NIPBLc.3524A= (p.Lys1175=)
c.1-63740A= (n.1-63740A=)
c.2780A= (p.Lys927=)
c.3326A= (p.Lys1109=)
c.3143A= (p.Lys1048=)
c.2864A= (p.Lys955=)
c.1907A= (p.Lys636=)
c.1898A= (p.Lys633=)
5g.37000838A>CCA359518092NIPBLc.3524A>C (p.Lys1175Thr)
c.1-63740A>C (n.1-63740A>C)
c.2780A>C (p.Lys927Thr)
c.3326A>C (p.Lys1109Thr)
c.3143A>C (p.Lys1048Thr)
c.2864A>C (p.Lys955Thr)
c.1907A>C (p.Lys636Thr)
c.1898A>C (p.Lys633Thr)
 dbSNP gnomAD v2
5g.37000838A>GCA359518091NIPBLc.3524A>G (p.Lys1175Arg)
c.1-63740A>G (n.1-63740A>G)
c.2780A>G (p.Lys927Arg)
c.3326A>G (p.Lys1109Arg)
c.3143A>G (p.Lys1048Arg)
c.2864A>G (p.Lys955Arg)
c.1907A>G (p.Lys636Arg)
c.1898A>G (p.Lys633Arg)
5g.37000838A>TCA359518093NIPBLc.3524A>T (p.Lys1175Ile)
c.1-63740A>T (n.1-63740A>T)
c.2780A>T (p.Lys927Ile)
c.3326A>T (p.Lys1109Ile)
c.3143A>T (p.Lys1048Ile)
c.2864A>T (p.Lys955Ile)
c.1907A>T (p.Lys636Ile)
c.1898A>T (p.Lys633Ile)
5g.37000839A>CCA359518094NIPBLc.3525A>C (p.Lys1175Asn)
c.1-63739A>C (n.1-63739A>C)
c.2781A>C (p.Lys927Asn)
c.3327A>C (p.Lys1109Asn)
c.3144A>C (p.Lys1048Asn)
c.2865A>C (p.Lys955Asn)
c.1908A>C (p.Lys636Asn)
c.1899A>C (p.Lys633Asn)
5g.37000839A>GCA443904500NIPBLc.3525A>G (p.Lys1175=)
c.1-63739A>G (n.1-63739A>G)
c.2781A>G (p.Lys927=)
c.3327A>G (p.Lys1109=)
c.3144A>G (p.Lys1048=)
c.2865A>G (p.Lys955=)
c.1908A>G (p.Lys636=)
c.1899A>G (p.Lys633=)
5g.37000839A>TCA359518095NIPBLc.3525A>T (p.Lys1175Asn)
c.1-63739A>T (n.1-63739A>T)
c.2781A>T (p.Lys927Asn)
c.3327A>T (p.Lys1109Asn)
c.3144A>T (p.Lys1048Asn)
c.2865A>T (p.Lys955Asn)
c.1908A>T (p.Lys636Asn)
c.1899A>T (p.Lys633Asn)
5g.37000840G>ACA359518097NIPBLc.3526G>A (p.Glu1176Lys)
c.1-63738G>A (n.1-63738G>A)
c.2782G>A (p.Glu928Lys)
c.3328G>A (p.Glu1110Lys)
c.3145G>A (p.Glu1049Lys)
c.2866G>A (p.Glu956Lys)
c.1909G>A (p.Glu637Lys)
c.1900G>A (p.Glu634Lys)
5g.37000840G>CCA359518099NIPBLc.3526G>C (p.Glu1176Gln)
c.1-63738G>C (n.1-63738G>C)
c.2782G>C (p.Glu928Gln)
c.3328G>C (p.Glu1110Gln)
c.3145G>C (p.Glu1049Gln)
c.2866G>C (p.Glu956Gln)
c.1909G>C (p.Glu637Gln)
c.1900G>C (p.Glu634Gln)
 gnomAD v4
5g.37000840G>TCA359518102NIPBLc.3526G>T (p.Glu1176Ter)
c.1-63738G>T (n.1-63738G>T)
c.2782G>T (p.Glu928Ter)
c.3328G>T (p.Glu1110Ter)
c.3145G>T (p.Glu1049Ter)
c.2866G>T (p.Glu956Ter)
c.1909G>T (p.Glu637Ter)
c.1900G>T (p.Glu634Ter)
5g.37000841A=CA1539601320NIPBLc.3527A= (p.Glu1176=)
c.1-63737A= (n.1-63737A=)
c.2783A= (p.Glu928=)
c.3329A= (p.Glu1110=)
c.3146A= (p.Glu1049=)
c.2867A= (p.Glu956=)
c.1910A= (p.Glu637=)
c.1901A= (p.Glu634=)
5g.37000841A>CCA359518110NIPBLc.3527A>C (p.Glu1176Ala)
c.1-63737A>C (n.1-63737A>C)
c.2783A>C (p.Glu928Ala)
c.3329A>C (p.Glu1110Ala)
c.3146A>C (p.Glu1049Ala)
c.2867A>C (p.Glu956Ala)
c.1910A>C (p.Glu637Ala)
c.1901A>C (p.Glu634Ala)
5g.37000841A>GCA359518105NIPBLc.3527A>G (p.Glu1176Gly)
c.1-63737A>G (n.1-63737A>G)
c.2783A>G (p.Glu928Gly)
c.3329A>G (p.Glu1110Gly)
c.3146A>G (p.Glu1049Gly)
c.2867A>G (p.Glu956Gly)
c.1910A>G (p.Glu637Gly)
c.1901A>G (p.Glu634Gly)
 ClinVar dbSNP gnomAD v4
5g.37000841A>TCA359518107NIPBLc.3527A>T (p.Glu1176Val)
c.1-63737A>T (n.1-63737A>T)
c.2783A>T (p.Glu928Val)
c.3329A>T (p.Glu1110Val)
c.3146A>T (p.Glu1049Val)
c.2867A>T (p.Glu956Val)
c.1910A>T (p.Glu637Val)
c.1901A>T (p.Glu634Val)
5g.37000842A>CCA359518113NIPBLc.3528A>C (p.Glu1176Asp)
c.1-63736A>C (n.1-63736A>C)
c.2784A>C (p.Glu928Asp)
c.3330A>C (p.Glu1110Asp)
c.3147A>C (p.Glu1049Asp)
c.2868A>C (p.Glu956Asp)
c.1911A>C (p.Glu637Asp)
c.1902A>C (p.Glu634Asp)
5g.37000842A>GCA443904503NIPBLc.3528A>G (p.Glu1176=)
c.1-63736A>G (n.1-63736A>G)
c.2784A>G (p.Glu928=)
c.3330A>G (p.Glu1110=)
c.3147A>G (p.Glu1049=)
c.2868A>G (p.Glu956=)
c.1911A>G (p.Glu637=)
c.1902A>G (p.Glu634=)
5g.37000842A>TCA359518116NIPBLc.3528A>T (p.Glu1176Asp)
c.1-63736A>T (n.1-63736A>T)
c.2784A>T (p.Glu928Asp)
c.3330A>T (p.Glu1110Asp)
c.3147A>T (p.Glu1049Asp)
c.2868A>T (p.Glu956Asp)
c.1911A>T (p.Glu637Asp)
c.1902A>T (p.Glu634Asp)
5g.37000846_37000855delCA2673574834NIPBLc.3532_3541del (p.Gln1178GlyfsTer8)
c.1-63732_1-63723del (n.1-63732_1-63723del)
c.2788_2797del (p.Gln930GlyfsTer8)
c.3334_3343del (p.Gln1112GlyfsTer8)
c.3151_3160del (p.Gln1051GlyfsTer8)
c.2872_2881del (p.Gln958GlyfsTer8)
c.1915_1924del (p.Gln639GlyfsTer8)
c.1906_1915del (p.Gln636GlyfsTer8)
 gnomAD v4
5g.37000843A>CCA359518119NIPBLc.3529A>C (p.Lys1177Gln)
c.1-63735A>C (n.1-63735A>C)
c.2785A>C (p.Lys929Gln)
c.3331A>C (p.Lys1111Gln)
c.3148A>C (p.Lys1050Gln)
c.2869A>C (p.Lys957Gln)
c.1912A>C (p.Lys638Gln)
c.1903A>C (p.Lys635Gln)
5g.37000843A>GCA359518121NIPBLc.3529A>G (p.Lys1177Glu)
c.1-63735A>G (n.1-63735A>G)
c.2785A>G (p.Lys929Glu)
c.3331A>G (p.Lys1111Glu)
c.3148A>G (p.Lys1050Glu)
c.2869A>G (p.Lys957Glu)
c.1912A>G (p.Lys638Glu)
c.1903A>G (p.Lys635Glu)
5g.37000843A>TCA359518123NIPBLc.3529A>T (p.Lys1177Ter)
c.1-63735A>T (n.1-63735A>T)
c.2785A>T (p.Lys929Ter)
c.3331A>T (p.Lys1111Ter)
c.3148A>T (p.Lys1050Ter)
c.2869A>T (p.Lys957Ter)
c.1912A>T (p.Lys638Ter)
c.1903A>T (p.Lys635Ter)
5g.37000844A>CCA359518126NIPBLc.3530A>C (p.Lys1177Thr)
c.1-63734A>C (n.1-63734A>C)
c.2786A>C (p.Lys929Thr)
c.3332A>C (p.Lys1111Thr)
c.3149A>C (p.Lys1050Thr)
c.2870A>C (p.Lys957Thr)
c.1913A>C (p.Lys638Thr)
c.1904A>C (p.Lys635Thr)
5g.37000844A>GCA359518130NIPBLc.3530A>G (p.Lys1177Arg)
c.1-63734A>G (n.1-63734A>G)
c.2786A>G (p.Lys929Arg)
c.3332A>G (p.Lys1111Arg)
c.3149A>G (p.Lys1050Arg)
c.2870A>G (p.Lys957Arg)
c.1913A>G (p.Lys638Arg)
c.1904A>G (p.Lys635Arg)
 ClinVar
5g.37000844A>TCA359518128NIPBLc.3530A>T (p.Lys1177Ile)
c.1-63734A>T (n.1-63734A>T)
c.2786A>T (p.Lys929Ile)
c.3332A>T (p.Lys1111Ile)
c.3149A>T (p.Lys1050Ile)
c.2870A>T (p.Lys957Ile)
c.1913A>T (p.Lys638Ile)
c.1904A>T (p.Lys635Ile)
5g.37000845A>CCA359518134NIPBLc.3531A>C (p.Lys1177Asn)
c.1-63733A>C (n.1-63733A>C)
c.2787A>C (p.Lys929Asn)
c.3333A>C (p.Lys1111Asn)
c.3150A>C (p.Lys1050Asn)
c.2871A>C (p.Lys957Asn)
c.1914A>C (p.Lys638Asn)
c.1905A>C (p.Lys635Asn)
5g.37000845A>GCA443904505NIPBLc.3531A>G (p.Lys1177=)
c.1-63733A>G (n.1-63733A>G)
c.2787A>G (p.Lys929=)
c.3333A>G (p.Lys1111=)
c.3150A>G (p.Lys1050=)
c.2871A>G (p.Lys957=)
c.1914A>G (p.Lys638=)
c.1905A>G (p.Lys635=)
5g.37000845A>TCA359518136NIPBLc.3531A>T (p.Lys1177Asn)
c.1-63733A>T (n.1-63733A>T)
c.2787A>T (p.Lys929Asn)
c.3333A>T (p.Lys1111Asn)
c.3150A>T (p.Lys1050Asn)
c.2871A>T (p.Lys957Asn)
c.1914A>T (p.Lys638Asn)
c.1905A>T (p.Lys635Asn)
5g.37000846C>ACA359518139NIPBLc.3532C>A (p.Gln1178Lys)
c.1-63732C>A (n.1-63732C>A)
c.2788C>A (p.Gln930Lys)
c.3334C>A (p.Gln1112Lys)
c.3151C>A (p.Gln1051Lys)
c.2872C>A (p.Gln958Lys)
c.1915C>A (p.Gln639Lys)
c.1906C>A (p.Gln636Lys)
5g.37000846C>GCA359518142NIPBLc.3532C>G (p.Gln1178Glu)
c.1-63732C>G (n.1-63732C>G)
c.2788C>G (p.Gln930Glu)
c.3334C>G (p.Gln1112Glu)
c.3151C>G (p.Gln1051Glu)
c.2872C>G (p.Gln958Glu)
c.1915C>G (p.Gln639Glu)
c.1906C>G (p.Gln636Glu)
5g.37000846C>TCA359518143NIPBLc.3532C>T (p.Gln1178Ter)
c.1-63732C>T (n.1-63732C>T)
c.2788C>T (p.Gln930Ter)
c.3334C>T (p.Gln1112Ter)
c.3151C>T (p.Gln1051Ter)
c.2872C>T (p.Gln958Ter)
c.1915C>T (p.Gln639Ter)
c.1906C>T (p.Gln636Ter)
5g.37000846_37000848delinsCAGCA1539601325NIPBLc.3532_3534delinsCAG (p.Gln1178=)
c.1-63732_1-63730delinsCAG (n.1-63732_1-63730delinsCAG)
c.2788_2790delinsCAG (p.Gln930=)
c.3334_3336delinsCAG (p.Gln1112=)
c.3151_3153delinsCAG (p.Gln1051=)
c.2872_2874delinsCAG (p.Gln958=)
c.1915_1917delinsCAG (p.Gln639=)
c.1906_1908delinsCAG (p.Gln636=)
5g.37000847A=CA1539601331NIPBLc.3533A= (p.Gln1178=)
c.1-63731A= (n.1-63731A=)
c.2789A= (p.Gln930=)
c.3335A= (p.Gln1112=)
c.3152A= (p.Gln1051=)
c.2873A= (p.Gln958=)
c.1916A= (p.Gln639=)
c.1907A= (p.Gln636=)
5g.37000847A>CCA359518147NIPBLc.3533A>C (p.Gln1178Pro)
c.1-63731A>C (n.1-63731A>C)
c.2789A>C (p.Gln930Pro)
c.3335A>C (p.Gln1112Pro)
c.3152A>C (p.Gln1051Pro)
c.2873A>C (p.Gln958Pro)
c.1916A>C (p.Gln639Pro)
c.1907A>C (p.Gln636Pro)
5g.37000847A>GCA3236362NIPBLc.3533A>G (p.Gln1178Arg)
c.1-63731A>G (n.1-63731A>G)
c.2789A>G (p.Gln930Arg)
c.3335A>G (p.Gln1112Arg)
c.3152A>G (p.Gln1051Arg)
c.2873A>G (p.Gln958Arg)
c.1916A>G (p.Gln639Arg)
c.1907A>G (p.Gln636Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.37000847A>TCA359518150NIPBLc.3533A>T (p.Gln1178Leu)
c.1-63731A>T (n.1-63731A>T)
c.2789A>T (p.Gln930Leu)
c.3335A>T (p.Gln1112Leu)
c.3152A>T (p.Gln1051Leu)
c.2873A>T (p.Gln958Leu)
c.1916A>T (p.Gln639Leu)
c.1907A>T (p.Gln636Leu)
5g.37000848_37000849delCA1139658781NIPBLc.3534_3535del (p.Lys1179GlufsTer6)
c.1-63730_1-63729del (n.1-63730_1-63729del)
c.2790_2791del (p.Lys931GlufsTer6)
c.3336_3337del (p.Lys1113GlufsTer6)
c.3153_3154del (p.Lys1052GlufsTer6)
c.2874_2875del (p.Lys959GlufsTer6)
c.1917_1918del (p.Lys640GlufsTer6)
c.1908_1909del (p.Lys637GlufsTer6)
 ClinVar dbSNP
5g.37000848G>ACA443904508NIPBLc.3534G>A (p.Gln1178=)
c.1-63730G>A (n.1-63730G>A)
c.2790G>A (p.Gln930=)
c.3336G>A (p.Gln1112=)
c.3153G>A (p.Gln1051=)
c.2874G>A (p.Gln958=)
c.1917G>A (p.Gln639=)
c.1908G>A (p.Gln636=)
5g.37000848G>CCA359518152NIPBLc.3534G>C (p.Gln1178His)
c.1-63730G>C (n.1-63730G>C)
c.2790G>C (p.Gln930His)
c.3336G>C (p.Gln1112His)
c.3153G>C (p.Gln1051His)
c.2874G>C (p.Gln958His)
c.1917G>C (p.Gln639His)
c.1908G>C (p.Gln636His)
5g.37000848G>TCA359518154NIPBLc.3534G>T (p.Gln1178His)
c.1-63730G>T (n.1-63730G>T)
c.2790G>T (p.Gln930His)
c.3336G>T (p.Gln1112His)
c.3153G>T (p.Gln1051His)
c.2874G>T (p.Gln958His)
c.1917G>T (p.Gln639His)
c.1908G>T (p.Gln636His)
5g.37000849A=CA1539601335NIPBLc.3535A= (p.Lys1179=)
c.1-63729A= (n.1-63729A=)
c.2791A= (p.Lys931=)
c.3337A= (p.Lys1113=)
c.3154A= (p.Lys1052=)
c.2875A= (p.Lys959=)
c.1918A= (p.Lys640=)
c.1909A= (p.Lys637=)
5g.37000849A>CCA359518162NIPBLc.3535A>C (p.Lys1179Gln)
c.1-63729A>C (n.1-63729A>C)
c.2791A>C (p.Lys931Gln)
c.3337A>C (p.Lys1113Gln)
c.3154A>C (p.Lys1052Gln)
c.2875A>C (p.Lys959Gln)
c.1918A>C (p.Lys640Gln)
c.1909A>C (p.Lys637Gln)
5g.37000849A>GCA359518160NIPBLc.3535A>G (p.Lys1179Glu)
c.1-63729A>G (n.1-63729A>G)
c.2791A>G (p.Lys931Glu)
c.3337A>G (p.Lys1113Glu)
c.3154A>G (p.Lys1052Glu)
c.2875A>G (p.Lys959Glu)
c.1918A>G (p.Lys640Glu)
c.1909A>G (p.Lys637Glu)
 dbSNP gnomAD v2 gnomAD v4
5g.37000849A>TCA359518158NIPBLc.3535A>T (p.Lys1179Ter)
c.1-63729A>T (n.1-63729A>T)
c.2791A>T (p.Lys931Ter)
c.3337A>T (p.Lys1113Ter)
c.3154A>T (p.Lys1052Ter)
c.2875A>T (p.Lys959Ter)
c.1918A>T (p.Lys640Ter)
c.1909A>T (p.Lys637Ter)
5g.37000850A>CCA359518166NIPBLc.3536A>C (p.Lys1179Thr)
c.1-63728A>C (n.1-63728A>C)
c.2792A>C (p.Lys931Thr)
c.3338A>C (p.Lys1113Thr)
c.3155A>C (p.Lys1052Thr)
c.2876A>C (p.Lys959Thr)
c.1919A>C (p.Lys640Thr)
c.1910A>C (p.Lys637Thr)

Number of alleles fetched