Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.37038673A>CCA359498324NIPBLc.6043A>C (p.Ile2015Leu)
c.1-25905A>C (n.1-25905A>C)
c.5299A>C (p.Ile1767Leu)
c.5845A>C (p.Ile1949Leu)
c.5662A>C (p.Ile1888Leu)
c.5383A>C (p.Ile1795Leu)
c.4426A>C (p.Ile1476Leu)
c.4417A>C (p.Ile1473Leu)
5g.37038673A>GCA359498327NIPBLc.6043A>G (p.Ile2015Val)
c.1-25905A>G (n.1-25905A>G)
c.5299A>G (p.Ile1767Val)
c.5845A>G (p.Ile1949Val)
c.5662A>G (p.Ile1888Val)
c.5383A>G (p.Ile1795Val)
c.4426A>G (p.Ile1476Val)
c.4417A>G (p.Ile1473Val)
 COSMIC COSMIC
5g.37038673A>TCA359498331NIPBLc.6043A>T (p.Ile2015Leu)
c.1-25905A>T (n.1-25905A>T)
c.5299A>T (p.Ile1767Leu)
c.5845A>T (p.Ile1949Leu)
c.5662A>T (p.Ile1888Leu)
c.5383A>T (p.Ile1795Leu)
c.4426A>T (p.Ile1476Leu)
c.4417A>T (p.Ile1473Leu)
5g.37038674T>ACA359498342NIPBLc.6044T>A (p.Ile2015Lys)
c.1-25904T>A (n.1-25904T>A)
c.5300T>A (p.Ile1767Lys)
c.5846T>A (p.Ile1949Lys)
c.5663T>A (p.Ile1888Lys)
c.5384T>A (p.Ile1795Lys)
c.4427T>A (p.Ile1476Lys)
c.4418T>A (p.Ile1473Lys)
5g.37038674T>CCA359498339NIPBLc.6044T>C (p.Ile2015Thr)
c.1-25904T>C (n.1-25904T>C)
c.5300T>C (p.Ile1767Thr)
c.5846T>C (p.Ile1949Thr)
c.5663T>C (p.Ile1888Thr)
c.5384T>C (p.Ile1795Thr)
c.4427T>C (p.Ile1476Thr)
c.4418T>C (p.Ile1473Thr)
5g.37038674T>GCA359498336NIPBLc.6044T>G (p.Ile2015Arg)
c.1-25904T>G (n.1-25904T>G)
c.5300T>G (p.Ile1767Arg)
c.5846T>G (p.Ile1949Arg)
c.5663T>G (p.Ile1888Arg)
c.5384T>G (p.Ile1795Arg)
c.4427T>G (p.Ile1476Arg)
c.4418T>G (p.Ile1473Arg)
5g.37038675A>CCA443905821NIPBLc.6045A>C (p.Ile2015=)
c.1-25903A>C (n.1-25903A>C)
c.5301A>C (p.Ile1767=)
c.5847A>C (p.Ile1949=)
c.5664A>C (p.Ile1888=)
c.5385A>C (p.Ile1795=)
c.4428A>C (p.Ile1476=)
c.4419A>C (p.Ile1473=)
5g.37038675A>GCA359498347NIPBLc.6045A>G (p.Ile2015Met)
c.1-25903A>G (n.1-25903A>G)
c.5301A>G (p.Ile1767Met)
c.5847A>G (p.Ile1949Met)
c.5664A>G (p.Ile1888Met)
c.5385A>G (p.Ile1795Met)
c.4428A>G (p.Ile1476Met)
c.4419A>G (p.Ile1473Met)
 gnomAD v4
5g.37038675A>TCA443905822NIPBLc.6045A>T (p.Ile2015=)
c.1-25903A>T (n.1-25903A>T)
c.5301A>T (p.Ile1767=)
c.5847A>T (p.Ile1949=)
c.5664A>T (p.Ile1888=)
c.5385A>T (p.Ile1795=)
c.4428A>T (p.Ile1476=)
c.4419A>T (p.Ile1473=)
5g.37038676A>CCA443905823NIPBLc.6046A>C (p.Arg2016=)
c.1-25902A>C (n.1-25902A>C)
c.5302A>C (p.Arg1768=)
c.5848A>C (p.Arg1950=)
c.5665A>C (p.Arg1889=)
c.5386A>C (p.Arg1796=)
c.4429A>C (p.Arg1477=)
c.4420A>C (p.Arg1474=)
 gnomAD v4
5g.37038676A>GCA359498355NIPBLc.6046A>G (p.Arg2016Gly)
c.1-25902A>G (n.1-25902A>G)
c.5302A>G (p.Arg1768Gly)
c.5848A>G (p.Arg1950Gly)
c.5665A>G (p.Arg1889Gly)
c.5386A>G (p.Arg1796Gly)
c.4429A>G (p.Arg1477Gly)
c.4420A>G (p.Arg1474Gly)
5g.37038676A>TCA359498358NIPBLc.6046A>T (p.Arg2016Ter)
c.1-25902A>T (n.1-25902A>T)
c.5302A>T (p.Arg1768Ter)
c.5848A>T (p.Arg1950Ter)
c.5665A>T (p.Arg1889Ter)
c.5386A>T (p.Arg1796Ter)
c.4429A>T (p.Arg1477Ter)
c.4420A>T (p.Arg1474Ter)
5g.37038677G>ACA359498362NIPBLc.6047G>A (p.Arg2016Lys)
c.1-25901G>A (n.1-25901G>A)
c.5303G>A (p.Arg1768Lys)
c.5849G>A (p.Arg1950Lys)
c.5666G>A (p.Arg1889Lys)
c.5387G>A (p.Arg1796Lys)
c.4430G>A (p.Arg1477Lys)
c.4421G>A (p.Arg1474Lys)
5g.37038677G>CCA359498363NIPBLc.6047G>C (p.Arg2016Thr)
c.1-25901G>C (n.1-25901G>C)
c.5303G>C (p.Arg1768Thr)
c.5849G>C (p.Arg1950Thr)
c.5666G>C (p.Arg1889Thr)
c.5387G>C (p.Arg1796Thr)
c.4430G>C (p.Arg1477Thr)
c.4421G>C (p.Arg1474Thr)
5g.37038677G>TCA359498364NIPBLc.6047G>T (p.Arg2016Ile)
c.1-25901G>T (n.1-25901G>T)
c.5303G>T (p.Arg1768Ile)
c.5849G>T (p.Arg1950Ile)
c.5666G>T (p.Arg1889Ile)
c.5387G>T (p.Arg1796Ile)
c.4430G>T (p.Arg1477Ile)
c.4421G>T (p.Arg1474Ile)
5g.37038678A>CCA359498365NIPBLc.6048A>C (p.Arg2016Ser)
c.1-25900A>C (n.1-25900A>C)
c.5304A>C (p.Arg1768Ser)
c.5850A>C (p.Arg1950Ser)
c.5667A>C (p.Arg1889Ser)
c.5388A>C (p.Arg1796Ser)
c.4431A>C (p.Arg1477Ser)
c.4422A>C (p.Arg1474Ser)
5g.37038678A>GCA443905824NIPBLc.6048A>G (p.Arg2016=)
c.1-25900A>G (n.1-25900A>G)
c.5304A>G (p.Arg1768=)
c.5850A>G (p.Arg1950=)
c.5667A>G (p.Arg1889=)
c.5388A>G (p.Arg1796=)
c.4431A>G (p.Arg1477=)
c.4422A>G (p.Arg1474=)
5g.37038678A>TCA359498368NIPBLc.6048A>T (p.Arg2016Ser)
c.1-25900A>T (n.1-25900A>T)
c.5304A>T (p.Arg1768Ser)
c.5850A>T (p.Arg1950Ser)
c.5667A>T (p.Arg1889Ser)
c.5388A>T (p.Arg1796Ser)
c.4431A>T (p.Arg1477Ser)
c.4422A>T (p.Arg1474Ser)
5g.37038679C>ACA359498370NIPBLc.6049C>A (p.Pro2017Thr)
c.1-25899C>A (n.1-25899C>A)
c.5305C>A (p.Pro1769Thr)
c.5851C>A (p.Pro1951Thr)
c.5668C>A (p.Pro1890Thr)
c.5389C>A (p.Pro1797Thr)
c.4432C>A (p.Pro1478Thr)
c.4423C>A (p.Pro1475Thr)
5g.37038679C>GCA359498376NIPBLc.6049C>G (p.Pro2017Ala)
c.1-25899C>G (n.1-25899C>G)
c.5305C>G (p.Pro1769Ala)
c.5851C>G (p.Pro1951Ala)
c.5668C>G (p.Pro1890Ala)
c.5389C>G (p.Pro1797Ala)
c.4432C>G (p.Pro1478Ala)
c.4423C>G (p.Pro1475Ala)
5g.37038679C>TCA359498379NIPBLc.6049C>T (p.Pro2017Ser)
c.1-25899C>T (n.1-25899C>T)
c.5305C>T (p.Pro1769Ser)
c.5851C>T (p.Pro1951Ser)
c.5668C>T (p.Pro1890Ser)
c.5389C>T (p.Pro1797Ser)
c.4432C>T (p.Pro1478Ser)
c.4423C>T (p.Pro1475Ser)
5g.37038680C>ACA359498406NIPBLc.6050C>A (p.Pro2017His)
c.1-25898C>A (n.1-25898C>A)
c.5306C>A (p.Pro1769His)
c.5852C>A (p.Pro1951His)
c.5669C>A (p.Pro1890His)
c.5390C>A (p.Pro1797His)
c.4433C>A (p.Pro1478His)
c.4424C>A (p.Pro1475His)
5g.37038680C>GCA359498402NIPBLc.6050C>G (p.Pro2017Arg)
c.1-25898C>G (n.1-25898C>G)
c.5306C>G (p.Pro1769Arg)
c.5852C>G (p.Pro1951Arg)
c.5669C>G (p.Pro1890Arg)
c.5390C>G (p.Pro1797Arg)
c.4433C>G (p.Pro1478Arg)
c.4424C>G (p.Pro1475Arg)
5g.37038680C>TCA359498393NIPBLc.6050C>T (p.Pro2017Leu)
c.1-25898C>T (n.1-25898C>T)
c.5306C>T (p.Pro1769Leu)
c.5852C>T (p.Pro1951Leu)
c.5669C>T (p.Pro1890Leu)
c.5390C>T (p.Pro1797Leu)
c.4433C>T (p.Pro1478Leu)
c.4424C>T (p.Pro1475Leu)
5g.37038681C>ACA443905826NIPBLc.6051C>A (p.Pro2017=)
c.1-25897C>A (n.1-25897C>A)
c.5307C>A (p.Pro1769=)
c.5853C>A (p.Pro1951=)
c.5670C>A (p.Pro1890=)
c.5391C>A (p.Pro1797=)
c.4434C>A (p.Pro1478=)
c.4425C>A (p.Pro1475=)
 dbSNP gnomAD v3 gnomAD v4
5g.37038681C=CA1539611504NIPBLc.6051C= (p.Pro2017=)
c.1-25897C= (n.1-25897C=)
c.5307C= (p.Pro1769=)
c.5853C= (p.Pro1951=)
c.5670C= (p.Pro1890=)
c.5391C= (p.Pro1797=)
c.4434C= (p.Pro1478=)
c.4425C= (p.Pro1475=)
5g.37038681C>GCA117038359NIPBLc.6051C>G (p.Pro2017=)
c.1-25897C>G (n.1-25897C>G)
c.5307C>G (p.Pro1769=)
c.5853C>G (p.Pro1951=)
c.5670C>G (p.Pro1890=)
c.5391C>G (p.Pro1797=)
c.4434C>G (p.Pro1478=)
c.4425C>G (p.Pro1475=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.37038681C>TCA443905827NIPBLc.6051C>T (p.Pro2017=)
c.1-25897C>T (n.1-25897C>T)
c.5307C>T (p.Pro1769=)
c.5853C>T (p.Pro1951=)
c.5670C>T (p.Pro1890=)
c.5391C>T (p.Pro1797=)
c.4434C>T (p.Pro1478=)
c.4425C>T (p.Pro1475=)
5g.37038682C>ACA359498410NIPBLc.6052C>A (p.Gln2018Lys)
c.1-25896C>A (n.1-25896C>A)
c.5308C>A (p.Gln1770Lys)
c.5854C>A (p.Gln1952Lys)
c.5671C>A (p.Gln1891Lys)
c.5392C>A (p.Gln1798Lys)
c.4435C>A (p.Gln1479Lys)
c.4426C>A (p.Gln1476Lys)
5g.37038682C>GCA359498412NIPBLc.6052C>G (p.Gln2018Glu)
c.1-25896C>G (n.1-25896C>G)
c.5308C>G (p.Gln1770Glu)
c.5854C>G (p.Gln1952Glu)
c.5671C>G (p.Gln1891Glu)
c.5392C>G (p.Gln1798Glu)
c.4435C>G (p.Gln1479Glu)
c.4426C>G (p.Gln1476Glu)
5g.37038682C>TCA359498415NIPBLc.6052C>T (p.Gln2018Ter)
c.1-25896C>T (n.1-25896C>T)
c.5308C>T (p.Gln1770Ter)
c.5854C>T (p.Gln1952Ter)
c.5671C>T (p.Gln1891Ter)
c.5392C>T (p.Gln1798Ter)
c.4435C>T (p.Gln1479Ter)
c.4426C>T (p.Gln1476Ter)
5g.37038683A>CCA359498419NIPBLc.6053A>C (p.Gln2018Pro)
c.1-25895A>C (n.1-25895A>C)
c.5309A>C (p.Gln1770Pro)
c.5855A>C (p.Gln1952Pro)
c.5672A>C (p.Gln1891Pro)
c.5393A>C (p.Gln1798Pro)
c.4436A>C (p.Gln1479Pro)
c.4427A>C (p.Gln1476Pro)
5g.37038683A>GCA359498422NIPBLc.6053A>G (p.Gln2018Arg)
c.1-25895A>G (n.1-25895A>G)
c.5309A>G (p.Gln1770Arg)
c.5855A>G (p.Gln1952Arg)
c.5672A>G (p.Gln1891Arg)
c.5393A>G (p.Gln1798Arg)
c.4436A>G (p.Gln1479Arg)
c.4427A>G (p.Gln1476Arg)
5g.37038683A>TCA359498426NIPBLc.6053A>T (p.Gln2018Leu)
c.1-25895A>T (n.1-25895A>T)
c.5309A>T (p.Gln1770Leu)
c.5855A>T (p.Gln1952Leu)
c.5672A>T (p.Gln1891Leu)
c.5393A>T (p.Gln1798Leu)
c.4436A>T (p.Gln1479Leu)
c.4427A>T (p.Gln1476Leu)
5g.37038684G>ACA443905828NIPBLc.6054G>A (p.Gln2018=)
c.1-25894G>A (n.1-25894G>A)
c.5310G>A (p.Gln1770=)
c.5856G>A (p.Gln1952=)
c.5673G>A (p.Gln1891=)
c.5394G>A (p.Gln1798=)
c.4437G>A (p.Gln1479=)
c.4428G>A (p.Gln1476=)
5g.37038684G>CCA359498447NIPBLc.6054G>C (p.Gln2018His)
c.1-25894G>C (n.1-25894G>C)
c.5310G>C (p.Gln1770His)
c.5856G>C (p.Gln1952His)
c.5673G>C (p.Gln1891His)
c.5394G>C (p.Gln1798His)
c.4437G>C (p.Gln1479His)
c.4428G>C (p.Gln1476His)
5g.37038684G>TCA359498456NIPBLc.6054G>T (p.Gln2018His)
c.1-25894G>T (n.1-25894G>T)
c.5310G>T (p.Gln1770His)
c.5856G>T (p.Gln1952His)
c.5673G>T (p.Gln1891His)
c.5394G>T (p.Gln1798His)
c.4437G>T (p.Gln1479His)
c.4428G>T (p.Gln1476His)
5g.37038685C>ACA359498459NIPBLc.6055C>A (p.Leu2019Ile)
c.1-25893C>A (n.1-25893C>A)
c.5311C>A (p.Leu1771Ile)
c.5857C>A (p.Leu1953Ile)
c.5674C>A (p.Leu1892Ile)
c.5395C>A (p.Leu1799Ile)
c.4438C>A (p.Leu1480Ile)
c.4429C>A (p.Leu1477Ile)
5g.37038685C>GCA359498464NIPBLc.6055C>G (p.Leu2019Val)
c.1-25893C>G (n.1-25893C>G)
c.5311C>G (p.Leu1771Val)
c.5857C>G (p.Leu1953Val)
c.5674C>G (p.Leu1892Val)
c.5395C>G (p.Leu1799Val)
c.4438C>G (p.Leu1480Val)
c.4429C>G (p.Leu1477Val)
5g.37038685C>TCA359498473NIPBLc.6055C>T (p.Leu2019Phe)
c.1-25893C>T (n.1-25893C>T)
c.5311C>T (p.Leu1771Phe)
c.5857C>T (p.Leu1953Phe)
c.5674C>T (p.Leu1892Phe)
c.5395C>T (p.Leu1799Phe)
c.4438C>T (p.Leu1480Phe)
c.4429C>T (p.Leu1477Phe)
5g.37038686T>ACA359498488NIPBLc.6056T>A (p.Leu2019His)
c.1-25892T>A (n.1-25892T>A)
c.5312T>A (p.Leu1771His)
c.5858T>A (p.Leu1953His)
c.5675T>A (p.Leu1892His)
c.5396T>A (p.Leu1799His)
c.4439T>A (p.Leu1480His)
c.4430T>A (p.Leu1477His)
5g.37038686T>CCA359498484NIPBLc.6056T>C (p.Leu2019Pro)
c.1-25892T>C (n.1-25892T>C)
c.5312T>C (p.Leu1771Pro)
c.5858T>C (p.Leu1953Pro)
c.5675T>C (p.Leu1892Pro)
c.5396T>C (p.Leu1799Pro)
c.4439T>C (p.Leu1480Pro)
c.4430T>C (p.Leu1477Pro)
5g.37038686T>GCA359498481NIPBLc.6056T>G (p.Leu2019Arg)
c.1-25892T>G (n.1-25892T>G)
c.5312T>G (p.Leu1771Arg)
c.5858T>G (p.Leu1953Arg)
c.5675T>G (p.Leu1892Arg)
c.5396T>G (p.Leu1799Arg)
c.4439T>G (p.Leu1480Arg)
c.4430T>G (p.Leu1477Arg)
5g.37038687C>ACA443905829NIPBLc.6057C>A (p.Leu2019=)
c.1-25891C>A (n.1-25891C>A)
c.5313C>A (p.Leu1771=)
c.5859C>A (p.Leu1953=)
c.5676C>A (p.Leu1892=)
c.5397C>A (p.Leu1799=)
c.4440C>A (p.Leu1480=)
c.4431C>A (p.Leu1477=)
5g.37038687C=CA1539611507NIPBLc.6057C= (p.Leu2019=)
c.1-25891C= (n.1-25891C=)
c.5313C= (p.Leu1771=)
c.5859C= (p.Leu1953=)
c.5676C= (p.Leu1892=)
c.5397C= (p.Leu1799=)
c.4440C= (p.Leu1480=)
c.4431C= (p.Leu1477=)
5g.37038687C>GCA443905830NIPBLc.6057C>G (p.Leu2019=)
c.1-25891C>G (n.1-25891C>G)
c.5313C>G (p.Leu1771=)
c.5859C>G (p.Leu1953=)
c.5676C>G (p.Leu1892=)
c.5397C>G (p.Leu1799=)
c.4440C>G (p.Leu1480=)
c.4431C>G (p.Leu1477=)
5g.37038687C>TCA179886NIPBLc.6057C>T (p.Leu2019=)
c.1-25891C>T (n.1-25891C>T)
c.5313C>T (p.Leu1771=)
c.5859C>T (p.Leu1953=)
c.5676C>T (p.Leu1892=)
c.5397C>T (p.Leu1799=)
c.4440C>T (p.Leu1480=)
c.4431C>T (p.Leu1477=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
5g.37038688A>CCA359498496NIPBLc.6058A>C (p.Met2020Leu)
c.1-25890A>C (n.1-25890A>C)
c.5314A>C (p.Met1772Leu)
c.5860A>C (p.Met1954Leu)
c.5677A>C (p.Met1893Leu)
c.5398A>C (p.Met1800Leu)
c.4441A>C (p.Met1481Leu)
c.4432A>C (p.Met1478Leu)
 gnomAD v4
5g.37038688A>GCA359498498NIPBLc.6058A>G (p.Met2020Val)
c.1-25890A>G (n.1-25890A>G)
c.5314A>G (p.Met1772Val)
c.5860A>G (p.Met1954Val)
c.5677A>G (p.Met1893Val)
c.5398A>G (p.Met1800Val)
c.4441A>G (p.Met1481Val)
c.4432A>G (p.Met1478Val)
 gnomAD v4
5g.37038688A>TCA359498502NIPBLc.6058A>T (p.Met2020Leu)
c.1-25890A>T (n.1-25890A>T)
c.5314A>T (p.Met1772Leu)
c.5860A>T (p.Met1954Leu)
c.5677A>T (p.Met1893Leu)
c.5398A>T (p.Met1800Leu)
c.4441A>T (p.Met1481Leu)
c.4432A>T (p.Met1478Leu)
5g.37038689T>ACA359498505NIPBLc.6059T>A (p.Met2020Lys)
c.1-25889T>A (n.1-25889T>A)
c.5315T>A (p.Met1772Lys)
c.5861T>A (p.Met1954Lys)
c.5678T>A (p.Met1893Lys)
c.5399T>A (p.Met1800Lys)
c.4442T>A (p.Met1481Lys)
c.4433T>A (p.Met1478Lys)
5g.37038689T>CCA359498508NIPBLc.6059T>C (p.Met2020Thr)
c.1-25889T>C (n.1-25889T>C)
c.5315T>C (p.Met1772Thr)
c.5861T>C (p.Met1954Thr)
c.5678T>C (p.Met1893Thr)
c.5399T>C (p.Met1800Thr)
c.4442T>C (p.Met1481Thr)
c.4433T>C (p.Met1478Thr)
5g.37038689T>GCA359498511NIPBLc.6059T>G (p.Met2020Arg)
c.1-25889T>G (n.1-25889T>G)
c.5315T>G (p.Met1772Arg)
c.5861T>G (p.Met1954Arg)
c.5678T>G (p.Met1893Arg)
c.5399T>G (p.Met1800Arg)
c.4442T>G (p.Met1481Arg)
c.4433T>G (p.Met1478Arg)
5g.37038690G>ACA359498521NIPBLc.6060G>A (p.Met2020Ile)
c.1-25888G>A (n.1-25888G>A)
c.5316G>A (p.Met1772Ile)
c.5862G>A (p.Met1954Ile)
c.5679G>A (p.Met1893Ile)
c.5400G>A (p.Met1800Ile)
c.4443G>A (p.Met1481Ile)
c.4434G>A (p.Met1478Ile)
5g.37038690G>CCA359498525NIPBLc.6060G>C (p.Met2020Ile)
c.1-25888G>C (n.1-25888G>C)
c.5316G>C (p.Met1772Ile)
c.5862G>C (p.Met1954Ile)
c.5679G>C (p.Met1893Ile)
c.5400G>C (p.Met1800Ile)
c.4443G>C (p.Met1481Ile)
c.4434G>C (p.Met1478Ile)
5g.37038690G>TCA359498528NIPBLc.6060G>T (p.Met2020Ile)
c.1-25888G>T (n.1-25888G>T)
c.5316G>T (p.Met1772Ile)
c.5862G>T (p.Met1954Ile)
c.5679G>T (p.Met1893Ile)
c.5400G>T (p.Met1800Ile)
c.4443G>T (p.Met1481Ile)
c.4434G>T (p.Met1478Ile)
5g.37038691G>ACA359498534NIPBLc.6061G>A (p.Val2021Ile)
c.1-25887G>A (n.1-25887G>A)
c.5317G>A (p.Val1773Ile)
c.5863G>A (p.Val1955Ile)
c.5680G>A (p.Val1894Ile)
c.5401G>A (p.Val1801Ile)
c.4444G>A (p.Val1482Ile)
c.4435G>A (p.Val1479Ile)
5g.37038691G>CCA359498538NIPBLc.6061G>C (p.Val2021Leu)
c.1-25887G>C (n.1-25887G>C)
c.5317G>C (p.Val1773Leu)
c.5863G>C (p.Val1955Leu)
c.5680G>C (p.Val1894Leu)
c.5401G>C (p.Val1801Leu)
c.4444G>C (p.Val1482Leu)
c.4435G>C (p.Val1479Leu)
5g.37038691G>TCA359498541NIPBLc.6061G>T (p.Val2021Phe)
c.1-25887G>T (n.1-25887G>T)
c.5317G>T (p.Val1773Phe)
c.5863G>T (p.Val1955Phe)
c.5680G>T (p.Val1894Phe)
c.5401G>T (p.Val1801Phe)
c.4444G>T (p.Val1482Phe)
c.4435G>T (p.Val1479Phe)
5g.37038692T>ACA359498551NIPBLc.6062T>A (p.Val2021Asp)
c.1-25886T>A (n.1-25886T>A)
c.5318T>A (p.Val1773Asp)
c.5864T>A (p.Val1955Asp)
c.5681T>A (p.Val1894Asp)
c.5402T>A (p.Val1801Asp)
c.4445T>A (p.Val1482Asp)
c.4436T>A (p.Val1479Asp)
5g.37038692T>CCA359498556NIPBLc.6062T>C (p.Val2021Ala)
c.1-25886T>C (n.1-25886T>C)
c.5318T>C (p.Val1773Ala)
c.5864T>C (p.Val1955Ala)
c.5681T>C (p.Val1894Ala)
c.5402T>C (p.Val1801Ala)
c.4445T>C (p.Val1482Ala)
c.4436T>C (p.Val1479Ala)
5g.37038692T>GCA359498547NIPBLc.6062T>G (p.Val2021Gly)
c.1-25886T>G (n.1-25886T>G)
c.5318T>G (p.Val1773Gly)
c.5864T>G (p.Val1955Gly)
c.5681T>G (p.Val1894Gly)
c.5402T>G (p.Val1801Gly)
c.4445T>G (p.Val1482Gly)
c.4436T>G (p.Val1479Gly)
5g.37038693T>ACA443905834NIPBLc.6063T>A (p.Val2021=)
c.1-25885T>A (n.1-25885T>A)
c.5319T>A (p.Val1773=)
c.5865T>A (p.Val1955=)
c.5682T>A (p.Val1894=)
c.5403T>A (p.Val1801=)
c.4446T>A (p.Val1482=)
c.4437T>A (p.Val1479=)
5g.37038693T>CCA443905831NIPBLc.6063T>C (p.Val2021=)
c.1-25885T>C (n.1-25885T>C)
c.5319T>C (p.Val1773=)
c.5865T>C (p.Val1955=)
c.5682T>C (p.Val1894=)
c.5403T>C (p.Val1801=)
c.4446T>C (p.Val1482=)
c.4437T>C (p.Val1479=)
5g.37038693T>GCA443905832NIPBLc.6063T>G (p.Val2021=)
c.1-25885T>G (n.1-25885T>G)
c.5319T>G (p.Val1773=)
c.5865T>G (p.Val1955=)
c.5682T>G (p.Val1894=)
c.5403T>G (p.Val1801=)
c.4446T>G (p.Val1482=)
c.4437T>G (p.Val1479=)
5g.37038694_37038699delCA2695204437NIPBLc.6064_6069del (p.Lys2022_His2023del)
c.1-25884_1-25879del (n.1-25884_1-25879del)
c.5320_5325del (p.Lys1774_His1775del)
c.5866_5871del (p.Lys1956_His1957del)
c.5683_5688del (p.Lys1895_His1896del)
c.5404_5409del (p.Lys1802_His1803del)
c.4447_4452del (p.Lys1483_His1484del)
c.4438_4443del (p.Lys1480_His1481del)
5g.37038694A>CCA359498563NIPBLc.6064A>C (p.Lys2022Gln)
c.1-25884A>C (n.1-25884A>C)
c.5320A>C (p.Lys1774Gln)
c.5866A>C (p.Lys1956Gln)
c.5683A>C (p.Lys1895Gln)
c.5404A>C (p.Lys1802Gln)
c.4447A>C (p.Lys1483Gln)
c.4438A>C (p.Lys1480Gln)
5g.37038694A>GCA359498557NIPBLc.6064A>G (p.Lys2022Glu)
c.1-25884A>G (n.1-25884A>G)
c.5320A>G (p.Lys1774Glu)
c.5866A>G (p.Lys1956Glu)
c.5683A>G (p.Lys1895Glu)
c.5404A>G (p.Lys1802Glu)
c.4447A>G (p.Lys1483Glu)
c.4438A>G (p.Lys1480Glu)
5g.37038694A>TCA359498559NIPBLc.6064A>T (p.Lys2022Ter)
c.1-25884A>T (n.1-25884A>T)
c.5320A>T (p.Lys1774Ter)
c.5866A>T (p.Lys1956Ter)
c.5683A>T (p.Lys1895Ter)
c.5404A>T (p.Lys1802Ter)
c.4447A>T (p.Lys1483Ter)
c.4438A>T (p.Lys1480Ter)
5g.37038695A=CA1539611509NIPBLc.6065A= (p.Lys2022=)
c.1-25883A= (n.1-25883A=)
c.5321A= (p.Lys1774=)
c.5867A= (p.Lys1956=)
c.5684A= (p.Lys1895=)
c.5405A= (p.Lys1802=)
c.4448A= (p.Lys1483=)
c.4439A= (p.Lys1480=)
5g.37038695A>CCA359498571NIPBLc.6065A>C (p.Lys2022Thr)
c.1-25883A>C (n.1-25883A>C)
c.5321A>C (p.Lys1774Thr)
c.5867A>C (p.Lys1956Thr)
c.5684A>C (p.Lys1895Thr)
c.5405A>C (p.Lys1802Thr)
c.4448A>C (p.Lys1483Thr)
c.4439A>C (p.Lys1480Thr)
5g.37038695A>GCA10607000NIPBLc.6065A>G (p.Lys2022Arg)
c.1-25883A>G (n.1-25883A>G)
c.5321A>G (p.Lys1774Arg)
c.5867A>G (p.Lys1956Arg)
c.5684A>G (p.Lys1895Arg)
c.5405A>G (p.Lys1802Arg)
c.4448A>G (p.Lys1483Arg)
c.4439A>G (p.Lys1480Arg)
 ClinVar dbSNP
5g.37038695A>TCA359498573NIPBLc.6065A>T (p.Lys2022Ile)
c.1-25883A>T (n.1-25883A>T)
c.5321A>T (p.Lys1774Ile)
c.5867A>T (p.Lys1956Ile)
c.5684A>T (p.Lys1895Ile)
c.5405A>T (p.Lys1802Ile)
c.4448A>T (p.Lys1483Ile)
c.4439A>T (p.Lys1480Ile)
5g.37038696A>CCA359498574NIPBLc.6066A>C (p.Lys2022Asn)
c.1-25882A>C (n.1-25882A>C)
c.5322A>C (p.Lys1774Asn)
c.5868A>C (p.Lys1956Asn)
c.5685A>C (p.Lys1895Asn)
c.5406A>C (p.Lys1802Asn)
c.4449A>C (p.Lys1483Asn)
c.4440A>C (p.Lys1480Asn)
5g.37038696A>GCA443905835NIPBLc.6066A>G (p.Lys2022=)
c.1-25882A>G (n.1-25882A>G)
c.5322A>G (p.Lys1774=)
c.5868A>G (p.Lys1956=)
c.5685A>G (p.Lys1895=)
c.5406A>G (p.Lys1802=)
c.4449A>G (p.Lys1483=)
c.4440A>G (p.Lys1480=)
5g.37038696A>TCA359498575NIPBLc.6066A>T (p.Lys2022Asn)
c.1-25882A>T (n.1-25882A>T)
c.5322A>T (p.Lys1774Asn)
c.5868A>T (p.Lys1956Asn)
c.5685A>T (p.Lys1895Asn)
c.5406A>T (p.Lys1802Asn)
c.4449A>T (p.Lys1483Asn)
c.4440A>T (p.Lys1480Asn)
5g.37038697C>ACA272186NIPBLc.6067C>A (p.His2023Asn)
c.1-25881C>A (n.1-25881C>A)
c.5323C>A (p.His1775Asn)
c.5869C>A (p.His1957Asn)
c.5686C>A (p.His1896Asn)
c.5407C>A (p.His1803Asn)
c.4450C>A (p.His1484Asn)
c.4441C>A (p.His1481Asn)
 ClinVar dbSNP
5g.37038697C=CA1539611513NIPBLc.6067C= (p.His2023=)
c.1-25881C= (n.1-25881C=)
c.5323C= (p.His1775=)
c.5869C= (p.His1957=)
c.5686C= (p.His1896=)
c.5407C= (p.His1803=)
c.4450C= (p.His1484=)
c.4441C= (p.His1481=)
5g.37038697C>GCA359498576NIPBLc.6067C>G (p.His2023Asp)
c.1-25881C>G (n.1-25881C>G)
c.5323C>G (p.His1775Asp)
c.5869C>G (p.His1957Asp)
c.5686C>G (p.His1896Asp)
c.5407C>G (p.His1803Asp)
c.4450C>G (p.His1484Asp)
c.4441C>G (p.His1481Asp)
5g.37038697C>TCA359498579NIPBLc.6067C>T (p.His2023Tyr)
c.1-25881C>T (n.1-25881C>T)
c.5323C>T (p.His1775Tyr)
c.5869C>T (p.His1957Tyr)
c.5686C>T (p.His1896Tyr)
c.5407C>T (p.His1803Tyr)
c.4450C>T (p.His1484Tyr)
c.4441C>T (p.His1481Tyr)
 dbSNP
5g.37038698A=CA1539611519NIPBLc.6068A= (p.His2023=)
c.1-25880A= (n.1-25880A=)
c.5324A= (p.His1775=)
c.5870A= (p.His1957=)
c.5687A= (p.His1896=)
c.5408A= (p.His1803=)
c.4451A= (p.His1484=)
c.4442A= (p.His1481=)
5g.37038698A>CCA359498593NIPBLc.6068A>C (p.His2023Pro)
c.1-25880A>C (n.1-25880A>C)
c.5324A>C (p.His1775Pro)
c.5870A>C (p.His1957Pro)
c.5687A>C (p.His1896Pro)
c.5408A>C (p.His1803Pro)
c.4451A>C (p.His1484Pro)
c.4442A>C (p.His1481Pro)
5g.37038698A>GCA272189NIPBLc.6068A>G (p.His2023Arg)
c.1-25880A>G (n.1-25880A>G)
c.5324A>G (p.His1775Arg)
c.5870A>G (p.His1957Arg)
c.5687A>G (p.His1896Arg)
c.5408A>G (p.His1803Arg)
c.4451A>G (p.His1484Arg)
c.4442A>G (p.His1481Arg)
 ClinVar dbSNP
5g.37038698A>TCA359498596NIPBLc.6068A>T (p.His2023Leu)
c.1-25880A>T (n.1-25880A>T)
c.5324A>T (p.His1775Leu)
c.5870A>T (p.His1957Leu)
c.5687A>T (p.His1896Leu)
c.5408A>T (p.His1803Leu)
c.4451A>T (p.His1484Leu)
c.4442A>T (p.His1481Leu)
5g.37038699T>ACA359498598NIPBLc.6069T>A (p.His2023Gln)
c.1-25879T>A (n.1-25879T>A)
c.5325T>A (p.His1775Gln)
c.5871T>A (p.His1957Gln)
c.5688T>A (p.His1896Gln)
c.5409T>A (p.His1803Gln)
c.4452T>A (p.His1484Gln)
c.4443T>A (p.His1481Gln)
5g.37038699T>CCA443905836NIPBLc.6069T>C (p.His2023=)
c.1-25879T>C (n.1-25879T>C)
c.5325T>C (p.His1775=)
c.5871T>C (p.His1957=)
c.5688T>C (p.His1896=)
c.5409T>C (p.His1803=)
c.4452T>C (p.His1484=)
c.4443T>C (p.His1481=)
 ClinVar dbSNP
5g.37038699T>GCA359498597NIPBLc.6069T>G (p.His2023Gln)
c.1-25879T>G (n.1-25879T>G)
c.5325T>G (p.His1775Gln)
c.5871T>G (p.His1957Gln)
c.5688T>G (p.His1896Gln)
c.5409T>G (p.His1803Gln)
c.4452T>G (p.His1484Gln)
c.4443T>G (p.His1481Gln)
5g.37038699T=CA1539611523NIPBLc.6069T= (p.His2023=)
c.1-25879T= (n.1-25879T=)
c.5325T= (p.His1775=)
c.5871T= (p.His1957=)
c.5688T= (p.His1896=)
c.5409T= (p.His1803=)
c.4452T= (p.His1484=)
c.4443T= (p.His1481=)
5g.37038700G>ACA359498599NIPBLc.6070G>A (p.Ala2024Thr)
c.1-25878G>A (n.1-25878G>A)
c.5326G>A (p.Ala1776Thr)
c.5872G>A (p.Ala1958Thr)
c.5689G>A (p.Ala1897Thr)
c.5410G>A (p.Ala1804Thr)
c.4453G>A (p.Ala1485Thr)
c.4444G>A (p.Ala1482Thr)
5g.37038700G>CCA16618203NIPBLc.6070G>C (p.Ala2024Pro)
c.1-25878G>C (n.1-25878G>C)
c.5326G>C (p.Ala1776Pro)
c.5872G>C (p.Ala1958Pro)
c.5689G>C (p.Ala1897Pro)
c.5410G>C (p.Ala1804Pro)
c.4453G>C (p.Ala1485Pro)
c.4444G>C (p.Ala1482Pro)
 ClinVar dbSNP
5g.37038700G=CA1539611529NIPBLc.6070G= (p.Ala2024=)
c.1-25878G= (n.1-25878G=)
c.5326G= (p.Ala1776=)
c.5872G= (p.Ala1958=)
c.5689G= (p.Ala1897=)
c.5410G= (p.Ala1804=)
c.4453G= (p.Ala1485=)
c.4444G= (p.Ala1482=)
5g.37038700G>TCA359498603NIPBLc.6070G>T (p.Ala2024Ser)
c.1-25878G>T (n.1-25878G>T)
c.5326G>T (p.Ala1776Ser)
c.5872G>T (p.Ala1958Ser)
c.5689G>T (p.Ala1897Ser)
c.5410G>T (p.Ala1804Ser)
c.4453G>T (p.Ala1485Ser)
c.4444G>T (p.Ala1482Ser)
5g.37038701C>ACA272192NIPBLc.6071C>A (p.Ala2024Glu)
c.1-25877C>A (n.1-25877C>A)
c.5327C>A (p.Ala1776Glu)
c.5873C>A (p.Ala1958Glu)
c.5690C>A (p.Ala1897Glu)
c.5411C>A (p.Ala1804Glu)
c.4454C>A (p.Ala1485Glu)
c.4445C>A (p.Ala1482Glu)
 ClinVar dbSNP
5g.37038701C=CA1539611540NIPBLc.6071C= (p.Ala2024=)
c.1-25877C= (n.1-25877C=)
c.5327C= (p.Ala1776=)
c.5873C= (p.Ala1958=)
c.5690C= (p.Ala1897=)
c.5411C= (p.Ala1804=)
c.4454C= (p.Ala1485=)
c.4445C= (p.Ala1482=)
5g.37038701C>GCA359498608NIPBLc.6071C>G (p.Ala2024Gly)
c.1-25877C>G (n.1-25877C>G)
c.5327C>G (p.Ala1776Gly)
c.5873C>G (p.Ala1958Gly)
c.5690C>G (p.Ala1897Gly)
c.5411C>G (p.Ala1804Gly)
c.4454C>G (p.Ala1485Gly)
c.4445C>G (p.Ala1482Gly)
5g.37038701C>TCA3236918NIPBLc.6071C>T (p.Ala2024Val)
c.1-25877C>T (n.1-25877C>T)
c.5327C>T (p.Ala1776Val)
c.5873C>T (p.Ala1958Val)
c.5690C>T (p.Ala1897Val)
c.5411C>T (p.Ala1804Val)
c.4454C>T (p.Ala1485Val)
c.4445C>T (p.Ala1482Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.37038702A=CA1539611543NIPBLc.6072A= (p.Ala2024=)
c.1-25876A= (n.1-25876A=)
c.5328A= (p.Ala1776=)
c.5874A= (p.Ala1958=)
c.5691A= (p.Ala1897=)
c.5412A= (p.Ala1804=)
c.4455A= (p.Ala1485=)
c.4446A= (p.Ala1482=)
5g.37038702A>CCA443905837NIPBLc.6072A>C (p.Ala2024=)
c.1-25876A>C (n.1-25876A>C)
c.5328A>C (p.Ala1776=)
c.5874A>C (p.Ala1958=)
c.5691A>C (p.Ala1897=)
c.5412A>C (p.Ala1804=)
c.4455A>C (p.Ala1485=)
c.4446A>C (p.Ala1482=)
 gnomAD v4
5g.37038702A>GCA3236919NIPBLc.6072A>G (p.Ala2024=)
c.1-25876A>G (n.1-25876A>G)
c.5328A>G (p.Ala1776=)
c.5874A>G (p.Ala1958=)
c.5691A>G (p.Ala1897=)
c.5412A>G (p.Ala1804=)
c.4455A>G (p.Ala1485=)
c.4446A>G (p.Ala1482=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.37038702A>TCA443905839NIPBLc.6072A>T (p.Ala2024=)
c.1-25876A>T (n.1-25876A>T)
c.5328A>T (p.Ala1776=)
c.5874A>T (p.Ala1958=)
c.5691A>T (p.Ala1897=)
c.5412A>T (p.Ala1804=)
c.4455A>T (p.Ala1485=)
c.4446A>T (p.Ala1482=)
5g.37038703A=CA1539611546NIPBLc.6073A= (p.Met2025=)
c.1-25875A= (n.1-25875A=)
c.5329A= (p.Met1777=)
c.5875A= (p.Met1959=)
c.5692A= (p.Met1898=)
c.5413A= (p.Met1805=)
c.4456A= (p.Met1486=)
c.4447A= (p.Met1483=)
5g.37038703A>CCA359498617NIPBLc.6073A>C (p.Met2025Leu)
c.1-25875A>C (n.1-25875A>C)
c.5329A>C (p.Met1777Leu)
c.5875A>C (p.Met1959Leu)
c.5692A>C (p.Met1898Leu)
c.5413A>C (p.Met1805Leu)
c.4456A>C (p.Met1486Leu)
c.4447A>C (p.Met1483Leu)
5g.37038703A>GCA359498619NIPBLc.6073A>G (p.Met2025Val)
c.1-25875A>G (n.1-25875A>G)
c.5329A>G (p.Met1777Val)
c.5875A>G (p.Met1959Val)
c.5692A>G (p.Met1898Val)
c.5413A>G (p.Met1805Val)
c.4456A>G (p.Met1486Val)
c.4447A>G (p.Met1483Val)
 dbSNP
5g.37038703A>TCA359498628NIPBLc.6073A>T (p.Met2025Leu)
c.1-25875A>T (n.1-25875A>T)
c.5329A>T (p.Met1777Leu)
c.5875A>T (p.Met1959Leu)
c.5692A>T (p.Met1898Leu)
c.5413A>T (p.Met1805Leu)
c.4456A>T (p.Met1486Leu)
c.4447A>T (p.Met1483Leu)
5g.37038704T>ACA359498631NIPBLc.6074T>A (p.Met2025Lys)
c.1-25874T>A (n.1-25874T>A)
c.5330T>A (p.Met1777Lys)
c.5876T>A (p.Met1959Lys)
c.5693T>A (p.Met1898Lys)
c.5414T>A (p.Met1805Lys)
c.4457T>A (p.Met1486Lys)
c.4448T>A (p.Met1483Lys)
5g.37038704T>CCA359498633NIPBLc.6074T>C (p.Met2025Thr)
c.1-25874T>C (n.1-25874T>C)
c.5330T>C (p.Met1777Thr)
c.5876T>C (p.Met1959Thr)
c.5693T>C (p.Met1898Thr)
c.5414T>C (p.Met1805Thr)
c.4457T>C (p.Met1486Thr)
c.4448T>C (p.Met1483Thr)
5g.37038704T>GCA359498639NIPBLc.6074T>G (p.Met2025Arg)
c.1-25874T>G (n.1-25874T>G)
c.5330T>G (p.Met1777Arg)
c.5876T>G (p.Met1959Arg)
c.5693T>G (p.Met1898Arg)
c.5414T>G (p.Met1805Arg)
c.4457T>G (p.Met1486Arg)
c.4448T>G (p.Met1483Arg)
5g.37038705G>ACA359498649NIPBLc.6075G>A (p.Met2025Ile)
c.1-25873G>A (n.1-25873G>A)
c.5331G>A (p.Met1777Ile)
c.5877G>A (p.Met1959Ile)
c.5694G>A (p.Met1898Ile)
c.5415G>A (p.Met1805Ile)
c.4458G>A (p.Met1486Ile)
c.4449G>A (p.Met1483Ile)
5g.37038705G>CCA359498646NIPBLc.6075G>C (p.Met2025Ile)
c.1-25873G>C (n.1-25873G>C)
c.5331G>C (p.Met1777Ile)
c.5877G>C (p.Met1959Ile)
c.5694G>C (p.Met1898Ile)
c.5415G>C (p.Met1805Ile)
c.4458G>C (p.Met1486Ile)
c.4449G>C (p.Met1483Ile)
5g.37038705G>TCA359498643NIPBLc.6075G>T (p.Met2025Ile)
c.1-25873G>T (n.1-25873G>T)
c.5331G>T (p.Met1777Ile)
c.5877G>T (p.Met1959Ile)
c.5694G>T (p.Met1898Ile)
c.5415G>T (p.Met1805Ile)
c.4458G>T (p.Met1486Ile)
c.4449G>T (p.Met1483Ile)
5g.37038706A>CCA359498658NIPBLc.6076A>C (p.Thr2026Pro)
c.1-25872A>C (n.1-25872A>C)
c.5332A>C (p.Thr1778Pro)
c.5878A>C (p.Thr1960Pro)
c.5695A>C (p.Thr1899Pro)
c.5416A>C (p.Thr1806Pro)
c.4459A>C (p.Thr1487Pro)
c.4450A>C (p.Thr1484Pro)
5g.37038706A>GCA359498660NIPBLc.6076A>G (p.Thr2026Ala)
c.1-25872A>G (n.1-25872A>G)
c.5332A>G (p.Thr1778Ala)
c.5878A>G (p.Thr1960Ala)
c.5695A>G (p.Thr1899Ala)
c.5416A>G (p.Thr1806Ala)
c.4459A>G (p.Thr1487Ala)
c.4450A>G (p.Thr1484Ala)
5g.37038706A>TCA359498663NIPBLc.6076A>T (p.Thr2026Ser)
c.1-25872A>T (n.1-25872A>T)
c.5332A>T (p.Thr1778Ser)
c.5878A>T (p.Thr1960Ser)
c.5695A>T (p.Thr1899Ser)
c.5416A>T (p.Thr1806Ser)
c.4459A>T (p.Thr1487Ser)
c.4450A>T (p.Thr1484Ser)
5g.37038707C>ACA359498666NIPBLc.6077C>A (p.Thr2026Asn)
c.1-25871C>A (n.1-25871C>A)
c.5333C>A (p.Thr1778Asn)
c.5879C>A (p.Thr1960Asn)
c.5696C>A (p.Thr1899Asn)
c.5417C>A (p.Thr1806Asn)
c.4460C>A (p.Thr1487Asn)
c.4451C>A (p.Thr1484Asn)
5g.37038707C>GCA359498670NIPBLc.6077C>G (p.Thr2026Ser)
c.1-25871C>G (n.1-25871C>G)
c.5333C>G (p.Thr1778Ser)
c.5879C>G (p.Thr1960Ser)
c.5696C>G (p.Thr1899Ser)
c.5417C>G (p.Thr1806Ser)
c.4460C>G (p.Thr1487Ser)
c.4451C>G (p.Thr1484Ser)
5g.37038707C>TCA359498674NIPBLc.6077C>T (p.Thr2026Ile)
c.1-25871C>T (n.1-25871C>T)
c.5333C>T (p.Thr1778Ile)
c.5879C>T (p.Thr1960Ile)
c.5696C>T (p.Thr1899Ile)
c.5417C>T (p.Thr1806Ile)
c.4460C>T (p.Thr1487Ile)
c.4451C>T (p.Thr1484Ile)
 gnomAD v4
5g.37038708T>ACA443905841NIPBLc.6078T>A (p.Thr2026=)
c.1-25870T>A (n.1-25870T>A)
c.5334T>A (p.Thr1778=)
c.5880T>A (p.Thr1960=)
c.5697T>A (p.Thr1899=)
c.5418T>A (p.Thr1806=)
c.4461T>A (p.Thr1487=)
c.4452T>A (p.Thr1484=)
5g.37038708T>CCA443905842NIPBLc.6078T>C (p.Thr2026=)
c.1-25870T>C (n.1-25870T>C)
c.5334T>C (p.Thr1778=)
c.5880T>C (p.Thr1960=)
c.5697T>C (p.Thr1899=)
c.5418T>C (p.Thr1806=)
c.4461T>C (p.Thr1487=)
c.4452T>C (p.Thr1484=)
 gnomAD v4
5g.37038708T>GCA443905843NIPBLc.6078T>G (p.Thr2026=)
c.1-25870T>G (n.1-25870T>G)
c.5334T>G (p.Thr1778=)
c.5880T>G (p.Thr1960=)
c.5697T>G (p.Thr1899=)
c.5418T>G (p.Thr1806=)
c.4461T>G (p.Thr1487=)
c.4452T>G (p.Thr1484=)
 dbSNP gnomAD v3 gnomAD v4
5g.37038708T=CA1539611550NIPBLc.6078T= (p.Thr2026=)
c.1-25870T= (n.1-25870T=)
c.5334T= (p.Thr1778=)
c.5880T= (p.Thr1960=)
c.5697T= (p.Thr1899=)
c.5418T= (p.Thr1806=)
c.4461T= (p.Thr1487=)
c.4452T= (p.Thr1484=)
5g.37038709A=CA1539611555NIPBLc.6079A= (p.Met2027=)
c.1-25869A= (n.1-25869A=)
c.5335A= (p.Met1779=)
c.5881A= (p.Met1961=)
c.5698A= (p.Met1900=)
c.5419A= (p.Met1807=)
c.4462A= (p.Met1488=)
c.4453A= (p.Met1485=)
5g.37038709A>CCA359498681NIPBLc.6079A>C (p.Met2027Leu)
c.1-25869A>C (n.1-25869A>C)
c.5335A>C (p.Met1779Leu)
c.5881A>C (p.Met1961Leu)
c.5698A>C (p.Met1900Leu)
c.5419A>C (p.Met1807Leu)
c.4462A>C (p.Met1488Leu)
c.4453A>C (p.Met1485Leu)
5g.37038709A>GCA359498679NIPBLc.6079A>G (p.Met2027Val)
c.1-25869A>G (n.1-25869A>G)
c.5335A>G (p.Met1779Val)
c.5881A>G (p.Met1961Val)
c.5698A>G (p.Met1900Val)
c.5419A>G (p.Met1807Val)
c.4462A>G (p.Met1488Val)
c.4453A>G (p.Met1485Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.37038709A>TCA359498676NIPBLc.6079A>T (p.Met2027Leu)
c.1-25869A>T (n.1-25869A>T)
c.5335A>T (p.Met1779Leu)
c.5881A>T (p.Met1961Leu)
c.5698A>T (p.Met1900Leu)
c.5419A>T (p.Met1807Leu)
c.4462A>T (p.Met1488Leu)
c.4453A>T (p.Met1485Leu)
5g.37038710_37038713dupCA2573139686NIPBLc.6080_6083dup (p.Gln2028HisfsTer8)
c.1-25868_1-25865dup (n.1-25868_1-25865dup)
c.5336_5339dup (p.Gln1780HisfsTer8)
c.5882_5885dup (p.Gln1962HisfsTer8)
c.5699_5702dup (p.Gln1901HisfsTer8)
c.5420_5423dup (p.Gln1808HisfsTer8)
c.4463_4466dup (p.Gln1489HisfsTer8)
c.4454_4457dup (p.Gln1486HisfsTer8)
 ClinVar dbSNP
5g.37038710T>ACA359498683NIPBLc.6080T>A (p.Met2027Lys)
c.1-25868T>A (n.1-25868T>A)
c.5336T>A (p.Met1779Lys)
c.5882T>A (p.Met1961Lys)
c.5699T>A (p.Met1900Lys)
c.5420T>A (p.Met1807Lys)
c.4463T>A (p.Met1488Lys)
c.4454T>A (p.Met1485Lys)
5g.37038710T>CCA359498685NIPBLc.6080T>C (p.Met2027Thr)
c.1-25868T>C (n.1-25868T>C)
c.5336T>C (p.Met1779Thr)
c.5882T>C (p.Met1961Thr)
c.5699T>C (p.Met1900Thr)
c.5420T>C (p.Met1807Thr)
c.4463T>C (p.Met1488Thr)
c.4454T>C (p.Met1485Thr)
 COSMIC COSMIC
5g.37038710T>GCA359498689NIPBLc.6080T>G (p.Met2027Arg)
c.1-25868T>G (n.1-25868T>G)
c.5336T>G (p.Met1779Arg)
c.5882T>G (p.Met1961Arg)
c.5699T>G (p.Met1900Arg)
c.5420T>G (p.Met1807Arg)
c.4463T>G (p.Met1488Arg)
c.4454T>G (p.Met1485Arg)
5g.37038711G>ACA359498698NIPBLc.6081G>A (p.Met2027Ile)
c.1-25867G>A (n.1-25867G>A)
c.5337G>A (p.Met1779Ile)
c.5883G>A (p.Met1961Ile)
c.5700G>A (p.Met1900Ile)
c.5421G>A (p.Met1807Ile)
c.4464G>A (p.Met1488Ile)
c.4455G>A (p.Met1485Ile)
5g.37038711G>CCA359498700NIPBLc.6081G>C (p.Met2027Ile)
c.1-25867G>C (n.1-25867G>C)
c.5337G>C (p.Met1779Ile)
c.5883G>C (p.Met1961Ile)
c.5700G>C (p.Met1900Ile)
c.5421G>C (p.Met1807Ile)
c.4464G>C (p.Met1488Ile)
c.4455G>C (p.Met1485Ile)
5g.37038711G>TCA359498703NIPBLc.6081G>T (p.Met2027Ile)
c.1-25867G>T (n.1-25867G>T)
c.5337G>T (p.Met1779Ile)
c.5883G>T (p.Met1961Ile)
c.5700G>T (p.Met1900Ile)
c.5421G>T (p.Met1807Ile)
c.4464G>T (p.Met1488Ile)
c.4455G>T (p.Met1485Ile)
5g.37038712C>ACA359498706NIPBLc.6082C>A (p.Gln2028Lys)
c.1-25866C>A (n.1-25866C>A)
c.5338C>A (p.Gln1780Lys)
c.5884C>A (p.Gln1962Lys)
c.5701C>A (p.Gln1901Lys)
c.5422C>A (p.Gln1808Lys)
c.4465C>A (p.Gln1489Lys)
c.4456C>A (p.Gln1486Lys)
5g.37038712C=CA1539611559NIPBLc.6082C= (p.Gln2028=)
c.1-25866C= (n.1-25866C=)
c.5338C= (p.Gln1780=)
c.5884C= (p.Gln1962=)
c.5701C= (p.Gln1901=)
c.5422C= (p.Gln1808=)
c.4465C= (p.Gln1489=)
c.4456C= (p.Gln1486=)
5g.37038712C>GCA359498711NIPBLc.6082C>G (p.Gln2028Glu)
c.1-25866C>G (n.1-25866C>G)
c.5338C>G (p.Gln1780Glu)
c.5884C>G (p.Gln1962Glu)
c.5701C>G (p.Gln1901Glu)
c.5422C>G (p.Gln1808Glu)
c.4465C>G (p.Gln1489Glu)
c.4456C>G (p.Gln1486Glu)
5g.37038712C>TCA10606653NIPBLc.6082C>T (p.Gln2028Ter)
c.1-25866C>T (n.1-25866C>T)
c.5338C>T (p.Gln1780Ter)
c.5884C>T (p.Gln1962Ter)
c.5701C>T (p.Gln1901Ter)
c.5422C>T (p.Gln1808Ter)
c.4465C>T (p.Gln1489Ter)
c.4456C>T (p.Gln1486Ter)
 ClinVar dbSNP
5g.37038713A>CCA359498714NIPBLc.6083A>C (p.Gln2028Pro)
c.1-25865A>C (n.1-25865A>C)
c.5339A>C (p.Gln1780Pro)
c.5885A>C (p.Gln1962Pro)
c.5702A>C (p.Gln1901Pro)
c.5423A>C (p.Gln1808Pro)
c.4466A>C (p.Gln1489Pro)
c.4457A>C (p.Gln1486Pro)
5g.37038713A>GCA359498716NIPBLc.6083A>G (p.Gln2028Arg)
c.1-25865A>G (n.1-25865A>G)
c.5339A>G (p.Gln1780Arg)
c.5885A>G (p.Gln1962Arg)
c.5702A>G (p.Gln1901Arg)
c.5423A>G (p.Gln1808Arg)
c.4466A>G (p.Gln1489Arg)
c.4457A>G (p.Gln1486Arg)
5g.37038713A>TCA359498719NIPBLc.6083A>T (p.Gln2028Leu)
c.1-25865A>T (n.1-25865A>T)
c.5339A>T (p.Gln1780Leu)
c.5885A>T (p.Gln1962Leu)
c.5702A>T (p.Gln1901Leu)
c.5423A>T (p.Gln1808Leu)
c.4466A>T (p.Gln1489Leu)
c.4457A>T (p.Gln1486Leu)
5g.37038714A>CCA359498720NIPBLc.6084A>C (p.Gln2028His)
c.1-25864A>C (n.1-25864A>C)
c.5340A>C (p.Gln1780His)
c.5886A>C (p.Gln1962His)
c.5703A>C (p.Gln1901His)
c.5424A>C (p.Gln1808His)
c.4467A>C (p.Gln1489His)
c.4458A>C (p.Gln1486His)
5g.37038714A>GCA443905844NIPBLc.6084A>G (p.Gln2028=)
c.1-25864A>G (n.1-25864A>G)
c.5340A>G (p.Gln1780=)
c.5886A>G (p.Gln1962=)
c.5703A>G (p.Gln1901=)
c.5424A>G (p.Gln1808=)
c.4467A>G (p.Gln1489=)
c.4458A>G (p.Gln1486=)
5g.37038714A>TCA359498721NIPBLc.6084A>T (p.Gln2028His)
c.1-25864A>T (n.1-25864A>T)
c.5340A>T (p.Gln1780His)
c.5886A>T (p.Gln1962His)
c.5703A>T (p.Gln1901His)
c.5424A>T (p.Gln1808His)
c.4467A>T (p.Gln1489His)
c.4458A>T (p.Gln1486His)
5g.37038715C>ACA359498722NIPBLc.6085C>A (p.Pro2029Thr)
c.1-25863C>A (n.1-25863C>A)
c.5341C>A (p.Pro1781Thr)
c.5887C>A (p.Pro1963Thr)
c.5704C>A (p.Pro1902Thr)
c.5425C>A (p.Pro1809Thr)
c.4468C>A (p.Pro1490Thr)
c.4459C>A (p.Pro1487Thr)
5g.37038715C>GCA359498723NIPBLc.6085C>G (p.Pro2029Ala)
c.1-25863C>G (n.1-25863C>G)
c.5341C>G (p.Pro1781Ala)
c.5887C>G (p.Pro1963Ala)
c.5704C>G (p.Pro1902Ala)
c.5425C>G (p.Pro1809Ala)
c.4468C>G (p.Pro1490Ala)
c.4459C>G (p.Pro1487Ala)
5g.37038715C>TCA359498724NIPBLc.6085C>T (p.Pro2029Ser)
c.1-25863C>T (n.1-25863C>T)
c.5341C>T (p.Pro1781Ser)
c.5887C>T (p.Pro1963Ser)
c.5704C>T (p.Pro1902Ser)
c.5425C>T (p.Pro1809Ser)
c.4468C>T (p.Pro1490Ser)
c.4459C>T (p.Pro1487Ser)
5g.37038716C>ACA359498726NIPBLc.6086C>A (p.Pro2029Gln)
c.1-25862C>A (n.1-25862C>A)
c.5342C>A (p.Pro1781Gln)
c.5888C>A (p.Pro1963Gln)
c.5705C>A (p.Pro1902Gln)
c.5426C>A (p.Pro1809Gln)
c.4469C>A (p.Pro1490Gln)
c.4460C>A (p.Pro1487Gln)
5g.37038716C=CA1539611565NIPBLc.6086C= (p.Pro2029=)
c.1-25862C= (n.1-25862C=)
c.5342C= (p.Pro1781=)
c.5888C= (p.Pro1963=)
c.5705C= (p.Pro1902=)
c.5426C= (p.Pro1809=)
c.4469C= (p.Pro1490=)
c.4460C= (p.Pro1487=)
5g.37038716C>GCA359498729NIPBLc.6086C>G (p.Pro2029Arg)
c.1-25862C>G (n.1-25862C>G)
c.5342C>G (p.Pro1781Arg)
c.5888C>G (p.Pro1963Arg)
c.5705C>G (p.Pro1902Arg)
c.5426C>G (p.Pro1809Arg)
c.4469C>G (p.Pro1490Arg)
c.4460C>G (p.Pro1487Arg)
5g.37038716C>TCA359498731NIPBLc.6086C>T (p.Pro2029Leu)
c.1-25862C>T (n.1-25862C>T)
c.5342C>T (p.Pro1781Leu)
c.5888C>T (p.Pro1963Leu)
c.5705C>T (p.Pro1902Leu)
c.5426C>T (p.Pro1809Leu)
c.4469C>T (p.Pro1490Leu)
c.4460C>T (p.Pro1487Leu)
5g.37038716_37038717insTCA658657440NIPBLc.6086_6087insT (p.Tyr2030IlefsTer5)
c.1-25862_1-25861insT (n.1-25862_1-25861insT)
c.5342_5343insT (p.Tyr1782IlefsTer5)
c.5888_5889insT (p.Tyr1964IlefsTer5)
c.5705_5706insT (p.Tyr1903IlefsTer5)
c.5426_5427insT (p.Tyr1810IlefsTer5)
c.4469_4470insT (p.Tyr1491IlefsTer5)
c.4460_4461insT (p.Tyr1488IlefsTer5)
 ClinVar dbSNP
5g.37038717A=CA1539611571NIPBLc.6087A= (p.Pro2029=)
c.1-25861A= (n.1-25861A=)
c.5343A= (p.Pro1781=)
c.5889A= (p.Pro1963=)
c.5706A= (p.Pro1902=)
c.5427A= (p.Pro1809=)
c.4470A= (p.Pro1490=)
c.4461A= (p.Pro1487=)
5g.37038717A>CCA443905845NIPBLc.6087A>C (p.Pro2029=)
c.1-25861A>C (n.1-25861A>C)
c.5343A>C (p.Pro1781=)
c.5889A>C (p.Pro1963=)
c.5706A>C (p.Pro1902=)
c.5427A>C (p.Pro1809=)
c.4470A>C (p.Pro1490=)
c.4461A>C (p.Pro1487=)
5g.37038717A>GCA443905846NIPBLc.6087A>G (p.Pro2029=)
c.1-25861A>G (n.1-25861A>G)
c.5343A>G (p.Pro1781=)
c.5889A>G (p.Pro1963=)
c.5706A>G (p.Pro1902=)
c.5427A>G (p.Pro1809=)
c.4470A>G (p.Pro1490=)
c.4461A>G (p.Pro1487=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.37038717A>TCA443905847NIPBLc.6087A>T (p.Pro2029=)
c.1-25861A>T (n.1-25861A>T)
c.5343A>T (p.Pro1781=)
c.5889A>T (p.Pro1963=)
c.5706A>T (p.Pro1902=)
c.5427A>T (p.Pro1809=)
c.4470A>T (p.Pro1490=)
c.4461A>T (p.Pro1487=)
5g.37038718T>ACA359498739NIPBLc.6088T>A (p.Tyr2030Asn)
c.1-25860T>A (n.1-25860T>A)
c.5344T>A (p.Tyr1782Asn)
c.5890T>A (p.Tyr1964Asn)
c.5707T>A (p.Tyr1903Asn)
c.5428T>A (p.Tyr1810Asn)
c.4471T>A (p.Tyr1491Asn)
c.4462T>A (p.Tyr1488Asn)
5g.37038718T>CCA359498738NIPBLc.6088T>C (p.Tyr2030His)
c.1-25860T>C (n.1-25860T>C)
c.5344T>C (p.Tyr1782His)
c.5890T>C (p.Tyr1964His)
c.5707T>C (p.Tyr1903His)
c.5428T>C (p.Tyr1810His)
c.4471T>C (p.Tyr1491His)
c.4462T>C (p.Tyr1488His)
5g.37038718T>GCA359498735NIPBLc.6088T>G (p.Tyr2030Asp)
c.1-25860T>G (n.1-25860T>G)
c.5344T>G (p.Tyr1782Asp)
c.5890T>G (p.Tyr1964Asp)
c.5707T>G (p.Tyr1903Asp)
c.5428T>G (p.Tyr1810Asp)
c.4471T>G (p.Tyr1491Asp)
c.4462T>G (p.Tyr1488Asp)
5g.37038719A>CCA359498740NIPBLc.6089A>C (p.Tyr2030Ser)
c.1-25859A>C (n.1-25859A>C)
c.5345A>C (p.Tyr1782Ser)
c.5891A>C (p.Tyr1964Ser)
c.5708A>C (p.Tyr1903Ser)
c.5429A>C (p.Tyr1810Ser)
c.4472A>C (p.Tyr1491Ser)
c.4463A>C (p.Tyr1488Ser)
5g.37038719A>GCA359498742NIPBLc.6089A>G (p.Tyr2030Cys)
c.1-25859A>G (n.1-25859A>G)
c.5345A>G (p.Tyr1782Cys)
c.5891A>G (p.Tyr1964Cys)
c.5708A>G (p.Tyr1903Cys)
c.5429A>G (p.Tyr1810Cys)
c.4472A>G (p.Tyr1491Cys)
c.4463A>G (p.Tyr1488Cys)
 ClinVar
5g.37038719A>TCA359498741NIPBLc.6089A>T (p.Tyr2030Phe)
c.1-25859A>T (n.1-25859A>T)
c.5345A>T (p.Tyr1782Phe)
c.5891A>T (p.Tyr1964Phe)
c.5708A>T (p.Tyr1903Phe)
c.5429A>T (p.Tyr1810Phe)
c.4472A>T (p.Tyr1491Phe)
c.4463A>T (p.Tyr1488Phe)
5g.37038720C>ACA359498744NIPBLc.6090C>A (p.Tyr2030Ter)
c.1-25858C>A (n.1-25858C>A)
c.5346C>A (p.Tyr1782Ter)
c.5892C>A (p.Tyr1964Ter)
c.5709C>A (p.Tyr1903Ter)
c.5430C>A (p.Tyr1810Ter)
c.4473C>A (p.Tyr1491Ter)
c.4464C>A (p.Tyr1488Ter)
5g.37038720C=CA1539611575NIPBLc.6090C= (p.Tyr2030=)
c.1-25858C= (n.1-25858C=)
c.5346C= (p.Tyr1782=)
c.5892C= (p.Tyr1964=)
c.5709C= (p.Tyr1903=)
c.5430C= (p.Tyr1810=)
c.4473C= (p.Tyr1491=)
c.4464C= (p.Tyr1488=)
5g.37038720C>GCA359498747NIPBLc.6090C>G (p.Tyr2030Ter)
c.1-25858C>G (n.1-25858C>G)
c.5346C>G (p.Tyr1782Ter)
c.5892C>G (p.Tyr1964Ter)
c.5709C>G (p.Tyr1903Ter)
c.5430C>G (p.Tyr1810Ter)
c.4473C>G (p.Tyr1491Ter)
c.4464C>G (p.Tyr1488Ter)
5g.37038720C>TCA443905848NIPBLc.6090C>T (p.Tyr2030=)
c.1-25858C>T (n.1-25858C>T)
c.5346C>T (p.Tyr1782=)
c.5892C>T (p.Tyr1964=)
c.5709C>T (p.Tyr1903=)
c.5430C>T (p.Tyr1810=)
c.4473C>T (p.Tyr1491=)
c.4464C>T (p.Tyr1488=)
 dbSNP gnomAD v3 gnomAD v4
5g.37038721C>ACA359498750NIPBLc.6091C>A (p.Leu2031Ile)
c.1-25857C>A (n.1-25857C>A)
c.5347C>A (p.Leu1783Ile)
c.5893C>A (p.Leu1965Ile)
c.5710C>A (p.Leu1904Ile)
c.5431C>A (p.Leu1811Ile)
c.4474C>A (p.Leu1492Ile)
c.4465C>A (p.Leu1489Ile)
5g.37038721C>GCA359498769NIPBLc.6091C>G (p.Leu2031Val)
c.1-25857C>G (n.1-25857C>G)
c.5347C>G (p.Leu1783Val)
c.5893C>G (p.Leu1965Val)
c.5710C>G (p.Leu1904Val)
c.5431C>G (p.Leu1811Val)
c.4474C>G (p.Leu1492Val)
c.4465C>G (p.Leu1489Val)
5g.37038721C>TCA359498764NIPBLc.6091C>T (p.Leu2031Phe)
c.1-25857C>T (n.1-25857C>T)
c.5347C>T (p.Leu1783Phe)
c.5893C>T (p.Leu1965Phe)
c.5710C>T (p.Leu1904Phe)
c.5431C>T (p.Leu1811Phe)
c.4474C>T (p.Leu1492Phe)
c.4465C>T (p.Leu1489Phe)
5g.37038722T>ACA359498779NIPBLc.6092T>A (p.Leu2031His)
c.1-25856T>A (n.1-25856T>A)
c.5348T>A (p.Leu1783His)
c.5894T>A (p.Leu1965His)
c.5711T>A (p.Leu1904His)
c.5432T>A (p.Leu1811His)
c.4475T>A (p.Leu1492His)
c.4466T>A (p.Leu1489His)
 COSMIC COSMIC
5g.37038722T>CCA359498785NIPBLc.6092T>C (p.Leu2031Pro)
c.1-25856T>C (n.1-25856T>C)
c.5348T>C (p.Leu1783Pro)
c.5894T>C (p.Leu1965Pro)
c.5711T>C (p.Leu1904Pro)
c.5432T>C (p.Leu1811Pro)
c.4475T>C (p.Leu1492Pro)
c.4466T>C (p.Leu1489Pro)
5g.37038722T>GCA359498782NIPBLc.6092T>G (p.Leu2031Arg)
c.1-25856T>G (n.1-25856T>G)
c.5348T>G (p.Leu1783Arg)
c.5894T>G (p.Leu1965Arg)
c.5711T>G (p.Leu1904Arg)
c.5432T>G (p.Leu1811Arg)
c.4475T>G (p.Leu1492Arg)
c.4466T>G (p.Leu1489Arg)
5g.37038723T>ACA443905849NIPBLc.6093T>A (p.Leu2031=)
c.1-25855T>A (n.1-25855T>A)
c.5349T>A (p.Leu1783=)
c.5895T>A (p.Leu1965=)
c.5712T>A (p.Leu1904=)
c.5433T>A (p.Leu1811=)
c.4476T>A (p.Leu1492=)
c.4467T>A (p.Leu1489=)
5g.37038723T>CCA443905850NIPBLc.6093T>C (p.Leu2031=)
c.1-25855T>C (n.1-25855T>C)
c.5349T>C (p.Leu1783=)
c.5895T>C (p.Leu1965=)
c.5712T>C (p.Leu1904=)
c.5433T>C (p.Leu1811=)
c.4476T>C (p.Leu1492=)
c.4467T>C (p.Leu1489=)
5g.37038723T>GCA443905851NIPBLc.6093T>G (p.Leu2031=)
c.1-25855T>G (n.1-25855T>G)
c.5349T>G (p.Leu1783=)
c.5895T>G (p.Leu1965=)
c.5712T>G (p.Leu1904=)
c.5433T>G (p.Leu1811=)
c.4476T>G (p.Leu1492=)
c.4467T>G (p.Leu1489=)
5g.37038724A>CCA359498787NIPBLc.6094A>C (p.Thr2032Pro)
c.1-25854A>C (n.1-25854A>C)
c.5350A>C (p.Thr1784Pro)
c.5896A>C (p.Thr1966Pro)
c.5713A>C (p.Thr1905Pro)
c.5434A>C (p.Thr1812Pro)
c.4477A>C (p.Thr1493Pro)
c.4468A>C (p.Thr1490Pro)
5g.37038724A>GCA359498789NIPBLc.6094A>G (p.Thr2032Ala)
c.1-25854A>G (n.1-25854A>G)
c.5350A>G (p.Thr1784Ala)
c.5896A>G (p.Thr1966Ala)
c.5713A>G (p.Thr1905Ala)
c.5434A>G (p.Thr1812Ala)
c.4477A>G (p.Thr1493Ala)
c.4468A>G (p.Thr1490Ala)
5g.37038724A>TCA359498794NIPBLc.6094A>T (p.Thr2032Ser)
c.1-25854A>T (n.1-25854A>T)
c.5350A>T (p.Thr1784Ser)
c.5896A>T (p.Thr1966Ser)
c.5713A>T (p.Thr1905Ser)
c.5434A>T (p.Thr1812Ser)
c.4477A>T (p.Thr1493Ser)
c.4468A>T (p.Thr1490Ser)
5g.37038725C>ACA359498797NIPBLc.6095C>A (p.Thr2032Asn)
c.1-25853C>A (n.1-25853C>A)
c.5351C>A (p.Thr1784Asn)
c.5897C>A (p.Thr1966Asn)
c.5714C>A (p.Thr1905Asn)
c.5435C>A (p.Thr1812Asn)
c.4478C>A (p.Thr1493Asn)
c.4469C>A (p.Thr1490Asn)
5g.37038725C>GCA359498800NIPBLc.6095C>G (p.Thr2032Ser)
c.1-25853C>G (n.1-25853C>G)
c.5351C>G (p.Thr1784Ser)
c.5897C>G (p.Thr1966Ser)
c.5714C>G (p.Thr1905Ser)
c.5435C>G (p.Thr1812Ser)
c.4478C>G (p.Thr1493Ser)
c.4469C>G (p.Thr1490Ser)
5g.37038725C>TCA359498806NIPBLc.6095C>T (p.Thr2032Ile)
c.1-25853C>T (n.1-25853C>T)
c.5351C>T (p.Thr1784Ile)
c.5897C>T (p.Thr1966Ile)
c.5714C>T (p.Thr1905Ile)
c.5435C>T (p.Thr1812Ile)
c.4478C>T (p.Thr1493Ile)
c.4469C>T (p.Thr1490Ile)
5g.37038726C>ACA443905852NIPBLc.6096C>A (p.Thr2032=)
c.1-25852C>A (n.1-25852C>A)
c.5352C>A (p.Thr1784=)
c.5898C>A (p.Thr1966=)
c.5715C>A (p.Thr1905=)
c.5436C>A (p.Thr1812=)
c.4479C>A (p.Thr1493=)
c.4470C>A (p.Thr1490=)
5g.37038726C>GCA443905854NIPBLc.6096C>G (p.Thr2032=)
c.1-25852C>G (n.1-25852C>G)
c.5352C>G (p.Thr1784=)
c.5898C>G (p.Thr1966=)
c.5715C>G (p.Thr1905=)
c.5436C>G (p.Thr1812=)
c.4479C>G (p.Thr1493=)
c.4470C>G (p.Thr1490=)
5g.37038726C>TCA443905853NIPBLc.6096C>T (p.Thr2032=)
c.1-25852C>T (n.1-25852C>T)
c.5352C>T (p.Thr1784=)
c.5898C>T (p.Thr1966=)
c.5715C>T (p.Thr1905=)
c.5436C>T (p.Thr1812=)
c.4479C>T (p.Thr1493=)
c.4470C>T (p.Thr1490=)
5g.37038727A>CCA359498807NIPBLc.6097A>C (p.Thr2033Pro)
c.1-25851A>C (n.1-25851A>C)
c.5353A>C (p.Thr1785Pro)
c.5899A>C (p.Thr1967Pro)
c.5716A>C (p.Thr1906Pro)
c.5437A>C (p.Thr1813Pro)
c.4480A>C (p.Thr1494Pro)
c.4471A>C (p.Thr1491Pro)
5g.37038727A>GCA359498808NIPBLc.6097A>G (p.Thr2033Ala)
c.1-25851A>G (n.1-25851A>G)
c.5353A>G (p.Thr1785Ala)
c.5899A>G (p.Thr1967Ala)
c.5716A>G (p.Thr1906Ala)
c.5437A>G (p.Thr1813Ala)
c.4480A>G (p.Thr1494Ala)
c.4471A>G (p.Thr1491Ala)
 gnomAD v4
5g.37038727A>TCA359498809NIPBLc.6097A>T (p.Thr2033Ser)
c.1-25851A>T (n.1-25851A>T)
c.5353A>T (p.Thr1785Ser)
c.5899A>T (p.Thr1967Ser)
c.5716A>T (p.Thr1906Ser)
c.5437A>T (p.Thr1813Ser)
c.4480A>T (p.Thr1494Ser)
c.4471A>T (p.Thr1491Ser)
5g.37038728C>ACA359498810NIPBLc.6098C>A (p.Thr2033Asn)
c.1-25850C>A (n.1-25850C>A)
c.5354C>A (p.Thr1785Asn)
c.5900C>A (p.Thr1967Asn)
c.5717C>A (p.Thr1906Asn)
c.5438C>A (p.Thr1813Asn)
c.4481C>A (p.Thr1494Asn)
c.4472C>A (p.Thr1491Asn)
5g.37038728C>GCA359498813NIPBLc.6098C>G (p.Thr2033Ser)
c.1-25850C>G (n.1-25850C>G)
c.5354C>G (p.Thr1785Ser)
c.5900C>G (p.Thr1967Ser)
c.5717C>G (p.Thr1906Ser)
c.5438C>G (p.Thr1813Ser)
c.4481C>G (p.Thr1494Ser)
c.4472C>G (p.Thr1491Ser)
 ClinVar
5g.37038728C>TCA359498819NIPBLc.6098C>T (p.Thr2033Ile)
c.1-25850C>T (n.1-25850C>T)
c.5354C>T (p.Thr1785Ile)
c.5900C>T (p.Thr1967Ile)
c.5717C>T (p.Thr1906Ile)
c.5438C>T (p.Thr1813Ile)
c.4481C>T (p.Thr1494Ile)
c.4472C>T (p.Thr1491Ile)
5g.37038729T>ACA443905855NIPBLc.6099T>A (p.Thr2033=)
c.1-25849T>A (n.1-25849T>A)
c.5355T>A (p.Thr1785=)
c.5901T>A (p.Thr1967=)
c.5718T>A (p.Thr1906=)
c.5439T>A (p.Thr1813=)
c.4482T>A (p.Thr1494=)
c.4473T>A (p.Thr1491=)
5g.37038729T>CCA443905856NIPBLc.6099T>C (p.Thr2033=)
c.1-25849T>C (n.1-25849T>C)
c.5355T>C (p.Thr1785=)
c.5901T>C (p.Thr1967=)
c.5718T>C (p.Thr1906=)
c.5439T>C (p.Thr1813=)
c.4482T>C (p.Thr1494=)
c.4473T>C (p.Thr1491=)
5g.37038729T>GCA443905857NIPBLc.6099T>G (p.Thr2033=)
c.1-25849T>G (n.1-25849T>G)
c.5355T>G (p.Thr1785=)
c.5901T>G (p.Thr1967=)
c.5718T>G (p.Thr1906=)
c.5439T>G (p.Thr1813=)
c.4482T>G (p.Thr1494=)
c.4473T>G (p.Thr1491=)
5g.37038730A>CCA359498831NIPBLc.6100A>C (p.Lys2034Gln)
c.1-25848A>C (n.1-25848A>C)
c.5356A>C (p.Lys1786Gln)
c.5902A>C (p.Lys1968Gln)
c.5719A>C (p.Lys1907Gln)
c.5440A>C (p.Lys1814Gln)
c.4483A>C (p.Lys1495Gln)
c.4474A>C (p.Lys1492Gln)
5g.37038730A>GCA359498823NIPBLc.6100A>G (p.Lys2034Glu)
c.1-25848A>G (n.1-25848A>G)
c.5356A>G (p.Lys1786Glu)
c.5902A>G (p.Lys1968Glu)
c.5719A>G (p.Lys1907Glu)
c.5440A>G (p.Lys1814Glu)
c.4483A>G (p.Lys1495Glu)
c.4474A>G (p.Lys1492Glu)
5g.37038730A>TCA359498828NIPBLc.6100A>T (p.Lys2034Ter)
c.1-25848A>T (n.1-25848A>T)
c.5356A>T (p.Lys1786Ter)
c.5902A>T (p.Lys1968Ter)
c.5719A>T (p.Lys1907Ter)
c.5440A>T (p.Lys1814Ter)
c.4483A>T (p.Lys1495Ter)
c.4474A>T (p.Lys1492Ter)
5g.37038731A>CCA359498835NIPBLc.6101A>C (p.Lys2034Thr)
c.1-25847A>C (n.1-25847A>C)
c.5357A>C (p.Lys1786Thr)
c.5903A>C (p.Lys1968Thr)
c.5720A>C (p.Lys1907Thr)
c.5441A>C (p.Lys1814Thr)
c.4484A>C (p.Lys1495Thr)
c.4475A>C (p.Lys1492Thr)
5g.37038731A>GCA359498851NIPBLc.6101A>G (p.Lys2034Arg)
c.1-25847A>G (n.1-25847A>G)
c.5357A>G (p.Lys1786Arg)
c.5903A>G (p.Lys1968Arg)
c.5720A>G (p.Lys1907Arg)
c.5441A>G (p.Lys1814Arg)
c.4484A>G (p.Lys1495Arg)
c.4475A>G (p.Lys1492Arg)
5g.37038731A>TCA359498859NIPBLc.6101A>T (p.Lys2034Ile)
c.1-25847A>T (n.1-25847A>T)
c.5357A>T (p.Lys1786Ile)
c.5903A>T (p.Lys1968Ile)
c.5720A>T (p.Lys1907Ile)
c.5441A>T (p.Lys1814Ile)
c.4484A>T (p.Lys1495Ile)
c.4475A>T (p.Lys1492Ile)
5g.37038732A>CCA359498864NIPBLc.6102A>C (p.Lys2034Asn)
c.1-25846A>C (n.1-25846A>C)
c.5358A>C (p.Lys1786Asn)
c.5904A>C (p.Lys1968Asn)
c.5721A>C (p.Lys1907Asn)
c.5442A>C (p.Lys1814Asn)
c.4485A>C (p.Lys1495Asn)
c.4476A>C (p.Lys1492Asn)
5g.37038732A>GCA443905858NIPBLc.6102A>G (p.Lys2034=)
c.1-25846A>G (n.1-25846A>G)
c.5358A>G (p.Lys1786=)
c.5904A>G (p.Lys1968=)
c.5721A>G (p.Lys1907=)
c.5442A>G (p.Lys1814=)
c.4485A>G (p.Lys1495=)
c.4476A>G (p.Lys1492=)
5g.37038732A>TCA359498865NIPBLc.6102A>T (p.Lys2034Asn)
c.1-25846A>T (n.1-25846A>T)
c.5358A>T (p.Lys1786Asn)
c.5904A>T (p.Lys1968Asn)
c.5721A>T (p.Lys1907Asn)
c.5442A>T (p.Lys1814Asn)
c.4485A>T (p.Lys1495Asn)
c.4476A>T (p.Lys1492Asn)
5g.37038733T>ACA359498866NIPBLc.6103T>A (p.Cys2035Ser)
c.1-25845T>A (n.1-25845T>A)
c.5359T>A (p.Cys1787Ser)
c.5905T>A (p.Cys1969Ser)
c.5722T>A (p.Cys1908Ser)
c.5443T>A (p.Cys1815Ser)
c.4486T>A (p.Cys1496Ser)
c.4477T>A (p.Cys1493Ser)
5g.37038733T>CCA359498867NIPBLc.6103T>C (p.Cys2035Arg)
c.1-25845T>C (n.1-25845T>C)
c.5359T>C (p.Cys1787Arg)
c.5905T>C (p.Cys1969Arg)
c.5722T>C (p.Cys1908Arg)
c.5443T>C (p.Cys1815Arg)
c.4486T>C (p.Cys1496Arg)
c.4477T>C (p.Cys1493Arg)
5g.37038733T>GCA359498871NIPBLc.6103T>G (p.Cys2035Gly)
c.1-25845T>G (n.1-25845T>G)
c.5359T>G (p.Cys1787Gly)
c.5905T>G (p.Cys1969Gly)
c.5722T>G (p.Cys1908Gly)
c.5443T>G (p.Cys1815Gly)
c.4486T>G (p.Cys1496Gly)
c.4477T>G (p.Cys1493Gly)
5g.37038734G>ACA359498878NIPBLc.6104G>A (p.Cys2035Tyr)
c.1-25844G>A (n.1-25844G>A)
c.5360G>A (p.Cys1787Tyr)
c.5906G>A (p.Cys1969Tyr)
c.5723G>A (p.Cys1908Tyr)
c.5444G>A (p.Cys1815Tyr)
c.4487G>A (p.Cys1496Tyr)
c.4478G>A (p.Cys1493Tyr)
5g.37038734G>CCA359498880NIPBLc.6104G>C (p.Cys2035Ser)
c.1-25844G>C (n.1-25844G>C)
c.5360G>C (p.Cys1787Ser)
c.5906G>C (p.Cys1969Ser)
c.5723G>C (p.Cys1908Ser)
c.5444G>C (p.Cys1815Ser)
c.4487G>C (p.Cys1496Ser)
c.4478G>C (p.Cys1493Ser)
5g.37038734G>TCA359498882NIPBLc.6104G>T (p.Cys2035Phe)
c.1-25844G>T (n.1-25844G>T)
c.5360G>T (p.Cys1787Phe)
c.5906G>T (p.Cys1969Phe)
c.5723G>T (p.Cys1908Phe)
c.5444G>T (p.Cys1815Phe)
c.4487G>T (p.Cys1496Phe)
c.4478G>T (p.Cys1493Phe)
5g.37038735T>ACA359498884NIPBLc.6105T>A (p.Cys2035Ter)
c.1-25843T>A (n.1-25843T>A)
c.5361T>A (p.Cys1787Ter)
c.5907T>A (p.Cys1969Ter)
c.5724T>A (p.Cys1908Ter)
c.5445T>A (p.Cys1815Ter)
c.4488T>A (p.Cys1496Ter)
c.4479T>A (p.Cys1493Ter)
5g.37038735T>CCA443905859NIPBLc.6105T>C (p.Cys2035=)
c.1-25843T>C (n.1-25843T>C)
c.5361T>C (p.Cys1787=)
c.5907T>C (p.Cys1969=)
c.5724T>C (p.Cys1908=)
c.5445T>C (p.Cys1815=)
c.4488T>C (p.Cys1496=)
c.4479T>C (p.Cys1493=)
5g.37038735T>GCA359498888NIPBLc.6105T>G (p.Cys2035Trp)
c.1-25843T>G (n.1-25843T>G)
c.5361T>G (p.Cys1787Trp)
c.5907T>G (p.Cys1969Trp)
c.5724T>G (p.Cys1908Trp)
c.5445T>G (p.Cys1815Trp)
c.4488T>G (p.Cys1496Trp)
c.4479T>G (p.Cys1493Trp)
5g.37038736A>CCA359498892NIPBLc.6106A>C (p.Ser2036Arg)
c.1-25842A>C (n.1-25842A>C)
c.5362A>C (p.Ser1788Arg)
c.5908A>C (p.Ser1970Arg)
c.5725A>C (p.Ser1909Arg)
c.5446A>C (p.Ser1816Arg)
c.4489A>C (p.Ser1497Arg)
c.4480A>C (p.Ser1494Arg)
5g.37038736A>GCA359498895NIPBLc.6106A>G (p.Ser2036Gly)
c.1-25842A>G (n.1-25842A>G)
c.5362A>G (p.Ser1788Gly)
c.5908A>G (p.Ser1970Gly)
c.5725A>G (p.Ser1909Gly)
c.5446A>G (p.Ser1816Gly)
c.4489A>G (p.Ser1497Gly)
c.4480A>G (p.Ser1494Gly)
5g.37038736A>TCA359498910NIPBLc.6106A>T (p.Ser2036Cys)
c.1-25842A>T (n.1-25842A>T)
c.5362A>T (p.Ser1788Cys)
c.5908A>T (p.Ser1970Cys)
c.5725A>T (p.Ser1909Cys)
c.5446A>T (p.Ser1816Cys)
c.4489A>T (p.Ser1497Cys)
c.4480A>T (p.Ser1494Cys)
5g.37038737G>ACA3236920NIPBLc.6107G>A (p.Ser2036Asn)
c.1-25841G>A (n.1-25841G>A)
c.5363G>A (p.Ser1788Asn)
c.5909G>A (p.Ser1970Asn)
c.5726G>A (p.Ser1909Asn)
c.5447G>A (p.Ser1816Asn)
c.4490G>A (p.Ser1497Asn)
c.4481G>A (p.Ser1494Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.37038737G>CCA359498922NIPBLc.6107G>C (p.Ser2036Thr)
c.1-25841G>C (n.1-25841G>C)
c.5363G>C (p.Ser1788Thr)
c.5909G>C (p.Ser1970Thr)
c.5726G>C (p.Ser1909Thr)
c.5447G>C (p.Ser1816Thr)
c.4490G>C (p.Ser1497Thr)
c.4481G>C (p.Ser1494Thr)
5g.37038737G=CA1539611579NIPBLc.6107G= (p.Ser2036=)
c.1-25841G= (n.1-25841G=)
c.5363G= (p.Ser1788=)
c.5909G= (p.Ser1970=)
c.5726G= (p.Ser1909=)
c.5447G= (p.Ser1816=)
c.4490G= (p.Ser1497=)
c.4481G= (p.Ser1494=)
5g.37038737G>TCA359498928NIPBLc.6107G>T (p.Ser2036Ile)
c.1-25841G>T (n.1-25841G>T)
c.5363G>T (p.Ser1788Ile)
c.5909G>T (p.Ser1970Ile)
c.5726G>T (p.Ser1909Ile)
c.5447G>T (p.Ser1816Ile)
c.4490G>T (p.Ser1497Ile)
c.4481G>T (p.Ser1494Ile)
5g.37038738T>ACA359498931NIPBLc.6108T>A (p.Ser2036Arg)
c.1-25840T>A (n.1-25840T>A)
c.5364T>A (p.Ser1788Arg)
c.5910T>A (p.Ser1970Arg)
c.5727T>A (p.Ser1909Arg)
c.5448T>A (p.Ser1816Arg)
c.4491T>A (p.Ser1497Arg)
c.4482T>A (p.Ser1494Arg)
5g.37038738T>CCA443905860NIPBLc.6108T>C (p.Ser2036=)
c.1-25840T>C (n.1-25840T>C)
c.5364T>C (p.Ser1788=)
c.5910T>C (p.Ser1970=)
c.5727T>C (p.Ser1909=)
c.5448T>C (p.Ser1816=)
c.4491T>C (p.Ser1497=)
c.4482T>C (p.Ser1494=)
 dbSNP gnomAD v3 gnomAD v4
5g.37038738T>GCA359498939NIPBLc.6108T>G (p.Ser2036Arg)
c.1-25840T>G (n.1-25840T>G)
c.5364T>G (p.Ser1788Arg)
c.5910T>G (p.Ser1970Arg)
c.5727T>G (p.Ser1909Arg)
c.5448T>G (p.Ser1816Arg)
c.4491T>G (p.Ser1497Arg)
c.4482T>G (p.Ser1494Arg)
5g.37038738T=CA1539611584NIPBLc.6108T= (p.Ser2036=)
c.1-25840T= (n.1-25840T=)
c.5364T= (p.Ser1788=)
c.5910T= (p.Ser1970=)
c.5727T= (p.Ser1909=)
c.5448T= (p.Ser1816=)
c.4491T= (p.Ser1497=)
c.4482T= (p.Ser1494=)
5g.37038739G>ACA359498943NIPBLc.6108+1G>A (n.6108+1G>A)
c.1-25839G>A (n.1-25839G>A)
c.5364+1G>A (n.5364+1G>A)
c.5910+1G>A (n.5910+1G>A)
c.5727+1G>A (n.5727+1G>A)
c.5448+1G>A (n.5448+1G>A)
c.4491+1G>A (n.4491+1G>A)
c.4482+1G>A (n.4482+1G>A)
5g.37038739G>CCA275220NIPBLc.6108+1G>C (n.6108+1G>C)
c.1-25839G>C (n.1-25839G>C)
c.5364+1G>C (n.5364+1G>C)
c.5910+1G>C (n.5910+1G>C)
c.5727+1G>C (n.5727+1G>C)
c.5448+1G>C (n.5448+1G>C)
c.4491+1G>C (n.4491+1G>C)
c.4482+1G>C (n.4482+1G>C)
 ClinVar dbSNP
5g.37038739G=CA1539611593NIPBLc.6108+1G= (n.6108+1G=)
c.1-25839G= (n.1-25839G=)
c.5364+1G= (n.5364+1G=)
c.5910+1G= (n.5910+1G=)
c.5727+1G= (n.5727+1G=)
c.5448+1G= (n.5448+1G=)
c.4491+1G= (n.4491+1G=)
c.4482+1G= (n.4482+1G=)
5g.37038739G>TCA272196NIPBLc.6108+1G>T (n.6108+1G>T)
c.1-25839G>T (n.1-25839G>T)
c.5364+1G>T (n.5364+1G>T)
c.5910+1G>T (n.5910+1G>T)
c.5727+1G>T (n.5727+1G>T)
c.5448+1G>T (n.5448+1G>T)
c.4491+1G>T (n.4491+1G>T)
c.4482+1G>T (n.4482+1G>T)
 ClinVar dbSNP
5g.37038740T>ACA359498967NIPBLc.6108+2T>A (n.6108+2T>A)
c.1-25838T>A (n.1-25838T>A)
c.5364+2T>A (n.5364+2T>A)
c.5910+2T>A (n.5910+2T>A)
c.5727+2T>A (n.5727+2T>A)
c.5448+2T>A (n.5448+2T>A)
c.4491+2T>A (n.4491+2T>A)
c.4482+2T>A (n.4482+2T>A)
5g.37038740T>CCA277253NIPBLc.6108+2T>C (n.6108+2T>C)
c.1-25838T>C (n.1-25838T>C)
c.5364+2T>C (n.5364+2T>C)
c.5910+2T>C (n.5910+2T>C)
c.5727+2T>C (n.5727+2T>C)
c.5448+2T>C (n.5448+2T>C)
c.4491+2T>C (n.4491+2T>C)
c.4482+2T>C (n.4482+2T>C)
 ClinVar dbSNP
5g.37038740T>GCA359498951NIPBLc.6108+2T>G (n.6108+2T>G)
c.1-25838T>G (n.1-25838T>G)
c.5364+2T>G (n.5364+2T>G)
c.5910+2T>G (n.5910+2T>G)
c.5727+2T>G (n.5727+2T>G)
c.5448+2T>G (n.5448+2T>G)
c.4491+2T>G (n.4491+2T>G)
c.4482+2T>G (n.4482+2T>G)
5g.37038740T=CA1539611600NIPBLc.6108+2T= (n.6108+2T=)
c.1-25838T= (n.1-25838T=)
c.5364+2T= (n.5364+2T=)
c.5910+2T= (n.5910+2T=)
c.5727+2T= (n.5727+2T=)
c.5448+2T= (n.5448+2T=)
c.4491+2T= (n.4491+2T=)
c.4482+2T= (n.4482+2T=)
5g.37038742A>CCA2695204438NIPBLc.6108+4A>C (n.6108+4A>C)
c.1-25836A>C (n.1-25836A>C)
c.5364+4A>C (n.5364+4A>C)
c.5910+4A>C (n.5910+4A>C)
c.5727+4A>C (n.5727+4A>C)
c.5448+4A>C (n.5448+4A>C)
c.4491+4A>C (n.4491+4A>C)
c.4482+4A>C (n.4482+4A>C)
5g.37038743G>ACA16042619NIPBLc.6108+5G>A (n.6108+5G>A)
c.1-25835G>A (n.1-25835G>A)
c.5364+5G>A (n.5364+5G>A)
c.5910+5G>A (n.5910+5G>A)
c.5727+5G>A (n.5727+5G>A)
c.5448+5G>A (n.5448+5G>A)
c.4491+5G>A (n.4491+5G>A)
c.4482+5G>A (n.4482+5G>A)
 ClinVar dbSNP
5g.37038743G=CA1539611604NIPBLc.6108+5G= (n.6108+5G=)
c.1-25835G= (n.1-25835G=)
c.5364+5G= (n.5364+5G=)
c.5910+5G= (n.5910+5G=)
c.5727+5G= (n.5727+5G=)
c.5448+5G= (n.5448+5G=)
c.4491+5G= (n.4491+5G=)
c.4482+5G= (n.4482+5G=)
5g.37038745A=CA1539611607NIPBLc.6108+7A= (n.6108+7A=)
c.1-25833A= (n.1-25833A=)
c.5364+7A= (n.5364+7A=)
c.5910+7A= (n.5910+7A=)
c.5727+7A= (n.5727+7A=)
c.5448+7A= (n.5448+7A=)
c.4491+7A= (n.4491+7A=)
c.4482+7A= (n.4482+7A=)
5g.37038745A>GCA272197NIPBLc.6108+7A>G (n.6108+7A>G)
c.1-25833A>G (n.1-25833A>G)
c.5364+7A>G (n.5364+7A>G)
c.5910+7A>G (n.5910+7A>G)
c.5727+7A>G (n.5727+7A>G)
c.5448+7A>G (n.5448+7A>G)
c.4491+7A>G (n.4491+7A>G)
c.4482+7A>G (n.4482+7A>G)
 ClinVar dbSNP
5g.37038746T>ACA559020427NIPBLc.6108+8T>A (n.6108+8T>A)
c.1-25832T>A (n.1-25832T>A)
c.5364+8T>A (n.5364+8T>A)
c.5910+8T>A (n.5910+8T>A)
c.5727+8T>A (n.5727+8T>A)
c.5448+8T>A (n.5448+8T>A)
c.4491+8T>A (n.4491+8T>A)
c.4482+8T>A (n.4482+8T>A)
 dbSNP gnomAD v2
5g.37038746T>CCA2673577288NIPBLc.6108+8T>C (n.6108+8T>C)
c.1-25832T>C (n.1-25832T>C)
c.5364+8T>C (n.5364+8T>C)
c.5910+8T>C (n.5910+8T>C)
c.5727+8T>C (n.5727+8T>C)
c.5448+8T>C (n.5448+8T>C)
c.4491+8T>C (n.4491+8T>C)
c.4482+8T>C (n.4482+8T>C)
 gnomAD v4
5g.37038746T=CA1539611609NIPBLc.6108+8T= (n.6108+8T=)
c.1-25832T= (n.1-25832T=)
c.5364+8T= (n.5364+8T=)
c.5910+8T= (n.5910+8T=)
c.5727+8T= (n.5727+8T=)
c.5448+8T= (n.5448+8T=)
c.4491+8T= (n.4491+8T=)
c.4482+8T= (n.4482+8T=)
5g.37038747_37038749delCA2673577289NIPBLc.6108+9_6108+11del (n.6108+9_6108+11del)
c.1-25831_1-25829del (n.1-25831_1-25829del)
c.5364+9_5364+11del (n.5364+9_5364+11del)
c.5910+9_5910+11del (n.5910+9_5910+11del)
c.5727+9_5727+11del (n.5727+9_5727+11del)
c.5448+9_5448+11del (n.5448+9_5448+11del)
c.4491+9_4491+11del (n.4491+9_4491+11del)
c.4482+9_4482+11del (n.4482+9_4482+11del)
 gnomAD v4
5g.37038748G>ACA3236921NIPBLc.6108+10G>A (n.6108+10G>A)
c.1-25830G>A (n.1-25830G>A)
c.5364+10G>A (n.5364+10G>A)
c.5910+10G>A (n.5910+10G>A)
c.5727+10G>A (n.5727+10G>A)
c.5448+10G>A (n.5448+10G>A)
c.4491+10G>A (n.4491+10G>A)
c.4482+10G>A (n.4482+10G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.37038748G=CA1539611612NIPBLc.6108+10G= (n.6108+10G=)
c.1-25830G= (n.1-25830G=)
c.5364+10G= (n.5364+10G=)
c.5910+10G= (n.5910+10G=)
c.5727+10G= (n.5727+10G=)
c.5448+10G= (n.5448+10G=)
c.4491+10G= (n.4491+10G=)
c.4482+10G= (n.4482+10G=)
5g.37038748G>TCA2673577290NIPBLc.6108+10G>T (n.6108+10G>T)
c.1-25830G>T (n.1-25830G>T)
c.5364+10G>T (n.5364+10G>T)
c.5910+10G>T (n.5910+10G>T)
c.5727+10G>T (n.5727+10G>T)
c.5448+10G>T (n.5448+10G>T)
c.4491+10G>T (n.4491+10G>T)
c.4482+10G>T (n.4482+10G>T)
 gnomAD v4
5g.37038749A=CA1539611613NIPBLc.6108+11A= (n.6108+11A=)
c.1-25829A= (n.1-25829A=)
c.5364+11A= (n.5364+11A=)
c.5910+11A= (n.5910+11A=)
c.5727+11A= (n.5727+11A=)
c.5448+11A= (n.5448+11A=)
c.4491+11A= (n.4491+11A=)
c.4482+11A= (n.4482+11A=)
5g.37038749A>CCA1539611614NIPBLc.6108+11A>C (n.6108+11A>C)
c.1-25829A>C (n.1-25829A>C)
c.5364+11A>C (n.5364+11A>C)
c.5910+11A>C (n.5910+11A>C)
c.5727+11A>C (n.5727+11A>C)
c.5448+11A>C (n.5448+11A>C)
c.4491+11A>C (n.4491+11A>C)
c.4482+11A>C (n.4482+11A>C)
 dbSNP
5g.37038751C=CA1539611615NIPBLc.6108+13C= (n.6108+13C=)
c.1-25827C= (n.1-25827C=)
c.5364+13C= (n.5364+13C=)
c.5910+13C= (n.5910+13C=)
c.5727+13C= (n.5727+13C=)
c.5448+13C= (n.5448+13C=)
c.4491+13C= (n.4491+13C=)
c.4482+13C= (n.4482+13C=)
5g.37038751C>GCA117038421NIPBLc.6108+13C>G (n.6108+13C>G)
c.1-25827C>G (n.1-25827C>G)
c.5364+13C>G (n.5364+13C>G)
c.5910+13C>G (n.5910+13C>G)
c.5727+13C>G (n.5727+13C>G)
c.5448+13C>G (n.5448+13C>G)
c.4491+13C>G (n.4491+13C>G)
c.4482+13C>G (n.4482+13C>G)
 dbSNP gnomAD v4
5g.37038751C>TCA2739274672NIPBLc.6108+13C>T (n.6108+13C>T)
c.1-25827C>T (n.1-25827C>T)
c.5364+13C>T (n.5364+13C>T)
c.5910+13C>T (n.5910+13C>T)
c.5727+13C>T (n.5727+13C>T)
c.5448+13C>T (n.5448+13C>T)
c.4491+13C>T (n.4491+13C>T)
c.4482+13C>T (n.4482+13C>T)
 ClinVar
5g.37038752T>CCA2765910648NIPBLc.6108+14T>C (n.6108+14T>C)
c.1-25826T>C (n.1-25826T>C)
c.5364+14T>C (n.5364+14T>C)
c.5910+14T>C (n.5910+14T>C)
c.5727+14T>C (n.5727+14T>C)
c.5448+14T>C (n.5448+14T>C)
c.4491+14T>C (n.4491+14T>C)
c.4482+14T>C (n.4482+14T>C)
5g.37038753G>ACA1539611620NIPBLc.6108+15G>A (n.6108+15G>A)
c.1-25825G>A (n.1-25825G>A)
c.5364+15G>A (n.5364+15G>A)
c.5910+15G>A (n.5910+15G>A)
c.5727+15G>A (n.5727+15G>A)
c.5448+15G>A (n.5448+15G>A)
c.4491+15G>A (n.4491+15G>A)
c.4482+15G>A (n.4482+15G>A)
 dbSNP
5g.37038753G=CA1539611619NIPBLc.6108+15G= (n.6108+15G=)
c.1-25825G= (n.1-25825G=)
c.5364+15G= (n.5364+15G=)
c.5910+15G= (n.5910+15G=)
c.5727+15G= (n.5727+15G=)
c.5448+15G= (n.5448+15G=)
c.4491+15G= (n.4491+15G=)
c.4482+15G= (n.4482+15G=)
5g.37038753G>TCA2673577296NIPBLc.6108+15G>T (n.6108+15G>T)
c.1-25825G>T (n.1-25825G>T)
c.5364+15G>T (n.5364+15G>T)
c.5910+15G>T (n.5910+15G>T)
c.5727+15G>T (n.5727+15G>T)
c.5448+15G>T (n.5448+15G>T)
c.4491+15G>T (n.4491+15G>T)
c.4482+15G>T (n.4482+15G>T)
 gnomAD v4
5g.37038756T>CCA2503333719NIPBLc.6108+18T>C (n.6108+18T>C)
c.1-25822T>C (n.1-25822T>C)
c.5364+18T>C (n.5364+18T>C)
c.5910+18T>C (n.5910+18T>C)
c.5727+18T>C (n.5727+18T>C)
c.5448+18T>C (n.5448+18T>C)
c.4491+18T>C (n.4491+18T>C)
c.4482+18T>C (n.4482+18T>C)
5g.37038758A=CA1539611621NIPBLc.6108+20A= (n.6108+20A=)
c.1-25820A= (n.1-25820A=)
c.5364+20A= (n.5364+20A=)
c.5910+20A= (n.5910+20A=)
c.5727+20A= (n.5727+20A=)
c.5448+20A= (n.5448+20A=)
c.4491+20A= (n.4491+20A=)
c.4482+20A= (n.4482+20A=)
5g.37038758A>GCA559020429NIPBLc.6108+20A>G (n.6108+20A>G)
c.1-25820A>G (n.1-25820A>G)
c.5364+20A>G (n.5364+20A>G)
c.5910+20A>G (n.5910+20A>G)
c.5727+20A>G (n.5727+20A>G)
c.5448+20A>G (n.5448+20A>G)
c.4491+20A>G (n.4491+20A>G)
c.4482+20A>G (n.4482+20A>G)
 dbSNP gnomAD v2 gnomAD v4
5g.37038764_37038770delCA2673577297NIPBLc.6108+26_6108+32del (n.6108+26_6108+32del)
c.1-25814_1-25808del (n.1-25814_1-25808del)
c.5364+26_5364+32del (n.5364+26_5364+32del)
c.5910+26_5910+32del (n.5910+26_5910+32del)
c.5727+26_5727+32del (n.5727+26_5727+32del)
c.5448+26_5448+32del (n.5448+26_5448+32del)
c.4491+26_4491+32del (n.4491+26_4491+32del)
c.4482+26_4482+32del (n.4482+26_4482+32del)
 gnomAD v4
5g.37038761C=CA1539611624NIPBLc.6108+23C= (n.6108+23C=)
c.1-25817C= (n.1-25817C=)
c.5364+23C= (n.5364+23C=)
c.5910+23C= (n.5910+23C=)
c.5727+23C= (n.5727+23C=)
c.5448+23C= (n.5448+23C=)
c.4491+23C= (n.4491+23C=)
c.4482+23C= (n.4482+23C=)
5g.37038761C>GCA2673577298NIPBLc.6108+23C>G (n.6108+23C>G)
c.1-25817C>G (n.1-25817C>G)
c.5364+23C>G (n.5364+23C>G)
c.5910+23C>G (n.5910+23C>G)
c.5727+23C>G (n.5727+23C>G)
c.5448+23C>G (n.5448+23C>G)
c.4491+23C>G (n.4491+23C>G)
c.4482+23C>G (n.4482+23C>G)
 gnomAD v4
5g.37038761C>TCA559020430NIPBLc.6108+23C>T (n.6108+23C>T)
c.1-25817C>T (n.1-25817C>T)
c.5364+23C>T (n.5364+23C>T)
c.5910+23C>T (n.5910+23C>T)
c.5727+23C>T (n.5727+23C>T)
c.5448+23C>T (n.5448+23C>T)
c.4491+23C>T (n.4491+23C>T)
c.4482+23C>T (n.4482+23C>T)
 dbSNP gnomAD v2 gnomAD v4
5g.37038764G>ACA559020432NIPBLc.6108+26G>A (n.6108+26G>A)
c.1-25814G>A (n.1-25814G>A)
c.5364+26G>A (n.5364+26G>A)
c.5910+26G>A (n.5910+26G>A)
c.5727+26G>A (n.5727+26G>A)
c.5448+26G>A (n.5448+26G>A)
c.4491+26G>A (n.4491+26G>A)
c.4482+26G>A (n.4482+26G>A)
 dbSNP gnomAD v2 gnomAD v4
5g.37038764G>CCA3236922NIPBLc.6108+26G>C (n.6108+26G>C)
c.1-25814G>C (n.1-25814G>C)
c.5364+26G>C (n.5364+26G>C)
c.5910+26G>C (n.5910+26G>C)
c.5727+26G>C (n.5727+26G>C)
c.5448+26G>C (n.5448+26G>C)
c.4491+26G>C (n.4491+26G>C)
c.4482+26G>C (n.4482+26G>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.37038764G=CA1539611627NIPBLc.6108+26G= (n.6108+26G=)
c.1-25814G= (n.1-25814G=)
c.5364+26G= (n.5364+26G=)
c.5910+26G= (n.5910+26G=)
c.5727+26G= (n.5727+26G=)
c.5448+26G= (n.5448+26G=)
c.4491+26G= (n.4491+26G=)
c.4482+26G= (n.4482+26G=)
5g.37038766A=CA1539611630NIPBLc.6108+28A= (n.6108+28A=)
c.1-25812A= (n.1-25812A=)
c.5364+28A= (n.5364+28A=)
c.5910+28A= (n.5910+28A=)
c.5727+28A= (n.5727+28A=)
c.5448+28A= (n.5448+28A=)
c.4491+28A= (n.4491+28A=)
c.4482+28A= (n.4482+28A=)
5g.37038766A>CCA2516395429NIPBLc.6108+28A>C (n.6108+28A>C)
c.1-25812A>C (n.1-25812A>C)
c.5364+28A>C (n.5364+28A>C)
c.5910+28A>C (n.5910+28A>C)
c.5727+28A>C (n.5727+28A>C)
c.5448+28A>C (n.5448+28A>C)
c.4491+28A>C (n.4491+28A>C)
c.4482+28A>C (n.4482+28A>C)
5g.37038766A>GCA2578289659NIPBLc.6108+28A>G (n.6108+28A>G)
c.1-25812A>G (n.1-25812A>G)
c.5364+28A>G (n.5364+28A>G)
c.5910+28A>G (n.5910+28A>G)
c.5727+28A>G (n.5727+28A>G)
c.5448+28A>G (n.5448+28A>G)
c.4491+28A>G (n.4491+28A>G)
c.4482+28A>G (n.4482+28A>G)
 gnomAD v4
5g.37038766A>TCA3236923NIPBLc.6108+28A>T (n.6108+28A>T)
c.1-25812A>T (n.1-25812A>T)
c.5364+28A>T (n.5364+28A>T)
c.5910+28A>T (n.5910+28A>T)
c.5727+28A>T (n.5727+28A>T)
c.5448+28A>T (n.5448+28A>T)
c.4491+28A>T (n.4491+28A>T)
c.4482+28A>T (n.4482+28A>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.37038767T>CCA2578289663NIPBLc.6108+29T>C (n.6108+29T>C)
c.1-25811T>C (n.1-25811T>C)
c.5364+29T>C (n.5364+29T>C)
c.5910+29T>C (n.5910+29T>C)
c.5727+29T>C (n.5727+29T>C)
c.5448+29T>C (n.5448+29T>C)
c.4491+29T>C (n.4491+29T>C)
c.4482+29T>C (n.4482+29T>C)
 gnomAD v4
5g.37038767T>GCA3236924NIPBLc.6108+29T>G (n.6108+29T>G)
c.1-25811T>G (n.1-25811T>G)
c.5364+29T>G (n.5364+29T>G)
c.5910+29T>G (n.5910+29T>G)
c.5727+29T>G (n.5727+29T>G)
c.5448+29T>G (n.5448+29T>G)
c.4491+29T>G (n.4491+29T>G)
c.4482+29T>G (n.4482+29T>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.37038767T=CA1539611631NIPBLc.6108+29T= (n.6108+29T=)
c.1-25811T= (n.1-25811T=)
c.5364+29T= (n.5364+29T=)
c.5910+29T= (n.5910+29T=)
c.5727+29T= (n.5727+29T=)
c.5448+29T= (n.5448+29T=)
c.4491+29T= (n.4491+29T=)
c.4482+29T= (n.4482+29T=)
5g.37038768C>ACA2673577299NIPBLc.6108+30C>A (n.6108+30C>A)
c.1-25810C>A (n.1-25810C>A)
c.5364+30C>A (n.5364+30C>A)
c.5910+30C>A (n.5910+30C>A)
c.5727+30C>A (n.5727+30C>A)
c.5448+30C>A (n.5448+30C>A)
c.4491+30C>A (n.4491+30C>A)
c.4482+30C>A (n.4482+30C>A)
 gnomAD v4
5g.37038768C=CA1539611634NIPBLc.6108+30C= (n.6108+30C=)
c.1-25810C= (n.1-25810C=)
c.5364+30C= (n.5364+30C=)
c.5910+30C= (n.5910+30C=)
c.5727+30C= (n.5727+30C=)
c.5448+30C= (n.5448+30C=)
c.4491+30C= (n.4491+30C=)
c.4482+30C= (n.4482+30C=)
5g.37038768C>GCA3236925NIPBLc.6108+30C>G (n.6108+30C>G)
c.1-25810C>G (n.1-25810C>G)
c.5364+30C>G (n.5364+30C>G)
c.5910+30C>G (n.5910+30C>G)
c.5727+30C>G (n.5727+30C>G)
c.5448+30C>G (n.5448+30C>G)
c.4491+30C>G (n.4491+30C>G)
c.4482+30C>G (n.4482+30C>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.37038768C>TCA559020434NIPBLc.6108+30C>T (n.6108+30C>T)
c.1-25810C>T (n.1-25810C>T)
c.5364+30C>T (n.5364+30C>T)
c.5910+30C>T (n.5910+30C>T)
c.5727+30C>T (n.5727+30C>T)
c.5448+30C>T (n.5448+30C>T)
c.4491+30C>T (n.4491+30C>T)
c.4482+30C>T (n.4482+30C>T)
 dbSNP gnomAD v2 gnomAD v4
5g.37038770T>CCA3236926NIPBLc.6108+32T>C (n.6108+32T>C)
c.1-25808T>C (n.1-25808T>C)
c.5364+32T>C (n.5364+32T>C)
c.5910+32T>C (n.5910+32T>C)
c.5727+32T>C (n.5727+32T>C)
c.5448+32T>C (n.5448+32T>C)
c.4491+32T>C (n.4491+32T>C)
c.4482+32T>C (n.4482+32T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.37038770T=CA1539611638NIPBLc.6108+32T= (n.6108+32T=)
c.1-25808T= (n.1-25808T=)
c.5364+32T= (n.5364+32T=)
c.5910+32T= (n.5910+32T=)
c.5727+32T= (n.5727+32T=)
c.5448+32T= (n.5448+32T=)
c.4491+32T= (n.4491+32T=)
c.4482+32T= (n.4482+32T=)

Number of alleles fetched