Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.37045517C>ACA359504448NIPBLc.6418C>A (p.Leu2140Ile)
c.1-19061C>A (n.1-19061C>A)
c.5674C>A (p.Leu1892Ile)
c.6220C>A (p.Leu2074Ile)
c.6037C>A (p.Leu2013Ile)
c.5758C>A (p.Leu1920Ile)
c.4801C>A (p.Leu1601Ile)
c.4792C>A (p.Leu1598Ile)
5g.37045517C>GCA359504449NIPBLc.6418C>G (p.Leu2140Val)
c.1-19061C>G (n.1-19061C>G)
c.5674C>G (p.Leu1892Val)
c.6220C>G (p.Leu2074Val)
c.6037C>G (p.Leu2013Val)
c.5758C>G (p.Leu1920Val)
c.4801C>G (p.Leu1601Val)
c.4792C>G (p.Leu1598Val)
5g.37045517C>TCA359504452NIPBLc.6418C>T (p.Leu2140Phe)
c.1-19061C>T (n.1-19061C>T)
c.5674C>T (p.Leu1892Phe)
c.6220C>T (p.Leu2074Phe)
c.6037C>T (p.Leu2013Phe)
c.5758C>T (p.Leu1920Phe)
c.4801C>T (p.Leu1601Phe)
c.4792C>T (p.Leu1598Phe)
5g.37045518T>ACA359504461NIPBLc.6419T>A (p.Leu2140His)
c.1-19060T>A (n.1-19060T>A)
c.5675T>A (p.Leu1892His)
c.6221T>A (p.Leu2074His)
c.6038T>A (p.Leu2013His)
c.5759T>A (p.Leu1920His)
c.4802T>A (p.Leu1601His)
c.4793T>A (p.Leu1598His)
5g.37045518T>CCA359504456NIPBLc.6419T>C (p.Leu2140Pro)
c.1-19060T>C (n.1-19060T>C)
c.5675T>C (p.Leu1892Pro)
c.6221T>C (p.Leu2074Pro)
c.6038T>C (p.Leu2013Pro)
c.5759T>C (p.Leu1920Pro)
c.4802T>C (p.Leu1601Pro)
c.4793T>C (p.Leu1598Pro)
5g.37045518T>GCA359504460NIPBLc.6419T>G (p.Leu2140Arg)
c.1-19060T>G (n.1-19060T>G)
c.5675T>G (p.Leu1892Arg)
c.6221T>G (p.Leu2074Arg)
c.6038T>G (p.Leu2013Arg)
c.5759T>G (p.Leu1920Arg)
c.4802T>G (p.Leu1601Arg)
c.4793T>G (p.Leu1598Arg)
5g.37045519T>ACA443906916NIPBLc.6420T>A (p.Leu2140=)
c.1-19059T>A (n.1-19059T>A)
c.5676T>A (p.Leu1892=)
c.6222T>A (p.Leu2074=)
c.6039T>A (p.Leu2013=)
c.5760T>A (p.Leu1920=)
c.4803T>A (p.Leu1601=)
c.4794T>A (p.Leu1598=)
5g.37045519T>CCA443906918NIPBLc.6420T>C (p.Leu2140=)
c.1-19059T>C (n.1-19059T>C)
c.5676T>C (p.Leu1892=)
c.6222T>C (p.Leu2074=)
c.6039T>C (p.Leu2013=)
c.5760T>C (p.Leu1920=)
c.4803T>C (p.Leu1601=)
c.4794T>C (p.Leu1598=)
5g.37045519T>GCA443906920NIPBLc.6420T>G (p.Leu2140=)
c.1-19059T>G (n.1-19059T>G)
c.5676T>G (p.Leu1892=)
c.6222T>G (p.Leu2074=)
c.6039T>G (p.Leu2013=)
c.5760T>G (p.Leu1920=)
c.4803T>G (p.Leu1601=)
c.4794T>G (p.Leu1598=)
5g.37045520C>ACA359504464NIPBLc.6421C>A (p.Leu2141Ile)
c.1-19058C>A (n.1-19058C>A)
c.5677C>A (p.Leu1893Ile)
c.6223C>A (p.Leu2075Ile)
c.6040C>A (p.Leu2014Ile)
c.5761C>A (p.Leu1921Ile)
c.4804C>A (p.Leu1602Ile)
c.4795C>A (p.Leu1599Ile)
5g.37045520C>GCA359504468NIPBLc.6421C>G (p.Leu2141Val)
c.1-19058C>G (n.1-19058C>G)
c.5677C>G (p.Leu1893Val)
c.6223C>G (p.Leu2075Val)
c.6040C>G (p.Leu2014Val)
c.5761C>G (p.Leu1921Val)
c.4804C>G (p.Leu1602Val)
c.4795C>G (p.Leu1599Val)
5g.37045520C>TCA359504471NIPBLc.6421C>T (p.Leu2141Phe)
c.1-19058C>T (n.1-19058C>T)
c.5677C>T (p.Leu1893Phe)
c.6223C>T (p.Leu2075Phe)
c.6040C>T (p.Leu2014Phe)
c.5761C>T (p.Leu1921Phe)
c.4804C>T (p.Leu1602Phe)
c.4795C>T (p.Leu1599Phe)
5g.37045521T>ACA359504475NIPBLc.6422T>A (p.Leu2141His)
c.1-19057T>A (n.1-19057T>A)
c.5678T>A (p.Leu1893His)
c.6224T>A (p.Leu2075His)
c.6041T>A (p.Leu2014His)
c.5762T>A (p.Leu1921His)
c.4805T>A (p.Leu1602His)
c.4796T>A (p.Leu1599His)
5g.37045521T>CCA359504477NIPBLc.6422T>C (p.Leu2141Pro)
c.1-19057T>C (n.1-19057T>C)
c.5678T>C (p.Leu1893Pro)
c.6224T>C (p.Leu2075Pro)
c.6041T>C (p.Leu2014Pro)
c.5762T>C (p.Leu1921Pro)
c.4805T>C (p.Leu1602Pro)
c.4796T>C (p.Leu1599Pro)
 gnomAD v4
5g.37045521T>GCA359504478NIPBLc.6422T>G (p.Leu2141Arg)
c.1-19057T>G (n.1-19057T>G)
c.5678T>G (p.Leu1893Arg)
c.6224T>G (p.Leu2075Arg)
c.6041T>G (p.Leu2014Arg)
c.5762T>G (p.Leu1921Arg)
c.4805T>G (p.Leu1602Arg)
c.4796T>G (p.Leu1599Arg)
5g.37045522T>ACA443906932NIPBLc.6423T>A (p.Leu2141=)
c.1-19056T>A (n.1-19056T>A)
c.5679T>A (p.Leu1893=)
c.6225T>A (p.Leu2075=)
c.6042T>A (p.Leu2014=)
c.5763T>A (p.Leu1921=)
c.4806T>A (p.Leu1602=)
c.4797T>A (p.Leu1599=)
5g.37045522T>CCA443906934NIPBLc.6423T>C (p.Leu2141=)
c.1-19056T>C (n.1-19056T>C)
c.5679T>C (p.Leu1893=)
c.6225T>C (p.Leu2075=)
c.6042T>C (p.Leu2014=)
c.5763T>C (p.Leu1921=)
c.4806T>C (p.Leu1602=)
c.4797T>C (p.Leu1599=)
5g.37045522T>GCA443906936NIPBLc.6423T>G (p.Leu2141=)
c.1-19056T>G (n.1-19056T>G)
c.5679T>G (p.Leu1893=)
c.6225T>G (p.Leu2075=)
c.6042T>G (p.Leu2014=)
c.5763T>G (p.Leu1921=)
c.4806T>G (p.Leu1602=)
c.4797T>G (p.Leu1599=)
5g.37045523A>CCA443906939NIPBLc.6424A>C (p.Arg2142=)
c.1-19055A>C (n.1-19055A>C)
c.5680A>C (p.Arg1894=)
c.6226A>C (p.Arg2076=)
c.6043A>C (p.Arg2015=)
c.5764A>C (p.Arg1922=)
c.4807A>C (p.Arg1603=)
c.4798A>C (p.Arg1600=)
5g.37045523A>GCA359504482NIPBLc.6424A>G (p.Arg2142Gly)
c.1-19055A>G (n.1-19055A>G)
c.5680A>G (p.Arg1894Gly)
c.6226A>G (p.Arg2076Gly)
c.6043A>G (p.Arg2015Gly)
c.5764A>G (p.Arg1922Gly)
c.4807A>G (p.Arg1603Gly)
c.4798A>G (p.Arg1600Gly)
5g.37045523A>TCA359504492NIPBLc.6424A>T (p.Arg2142Ter)
c.1-19055A>T (n.1-19055A>T)
c.5680A>T (p.Arg1894Ter)
c.6226A>T (p.Arg2076Ter)
c.6043A>T (p.Arg2015Ter)
c.5764A>T (p.Arg1922Ter)
c.4807A>T (p.Arg1603Ter)
c.4798A>T (p.Arg1600Ter)
5g.37045524G>ACA359504494NIPBLc.6425G>A (p.Arg2142Lys)
c.1-19054G>A (n.1-19054G>A)
c.5681G>A (p.Arg1894Lys)
c.6227G>A (p.Arg2076Lys)
c.6044G>A (p.Arg2015Lys)
c.5765G>A (p.Arg1922Lys)
c.4808G>A (p.Arg1603Lys)
c.4799G>A (p.Arg1600Lys)
5g.37045524G>CCA359504495NIPBLc.6425G>C (p.Arg2142Thr)
c.1-19054G>C (n.1-19054G>C)
c.5681G>C (p.Arg1894Thr)
c.6227G>C (p.Arg2076Thr)
c.6044G>C (p.Arg2015Thr)
c.5765G>C (p.Arg1922Thr)
c.4808G>C (p.Arg1603Thr)
c.4799G>C (p.Arg1600Thr)
5g.37045524G>TCA359504497NIPBLc.6425G>T (p.Arg2142Ile)
c.1-19054G>T (n.1-19054G>T)
c.5681G>T (p.Arg1894Ile)
c.6227G>T (p.Arg2076Ile)
c.6044G>T (p.Arg2015Ile)
c.5765G>T (p.Arg1922Ile)
c.4808G>T (p.Arg1603Ile)
c.4799G>T (p.Arg1600Ile)
5g.37045525A>CCA359504500NIPBLc.6426A>C (p.Arg2142Ser)
c.1-19053A>C (n.1-19053A>C)
c.5682A>C (p.Arg1894Ser)
c.6228A>C (p.Arg2076Ser)
c.6045A>C (p.Arg2015Ser)
c.5766A>C (p.Arg1922Ser)
c.4809A>C (p.Arg1603Ser)
c.4800A>C (p.Arg1600Ser)
5g.37045525A>GCA443906951NIPBLc.6426A>G (p.Arg2142=)
c.1-19053A>G (n.1-19053A>G)
c.5682A>G (p.Arg1894=)
c.6228A>G (p.Arg2076=)
c.6045A>G (p.Arg2015=)
c.5766A>G (p.Arg1922=)
c.4809A>G (p.Arg1603=)
c.4800A>G (p.Arg1600=)
5g.37045525A>TCA359504502NIPBLc.6426A>T (p.Arg2142Ser)
c.1-19053A>T (n.1-19053A>T)
c.5682A>T (p.Arg1894Ser)
c.6228A>T (p.Arg2076Ser)
c.6045A>T (p.Arg2015Ser)
c.5766A>T (p.Arg1922Ser)
c.4809A>T (p.Arg1603Ser)
c.4800A>T (p.Arg1600Ser)
5g.37045526T>ACA359504512NIPBLc.6427T>A (p.Ser2143Thr)
c.1-19052T>A (n.1-19052T>A)
c.5683T>A (p.Ser1895Thr)
c.6229T>A (p.Ser2077Thr)
c.6046T>A (p.Ser2016Thr)
c.5767T>A (p.Ser1923Thr)
c.4810T>A (p.Ser1604Thr)
c.4801T>A (p.Ser1601Thr)
 COSMIC COSMIC
5g.37045526T>CCA359504514NIPBLc.6427T>C (p.Ser2143Pro)
c.1-19052T>C (n.1-19052T>C)
c.5683T>C (p.Ser1895Pro)
c.6229T>C (p.Ser2077Pro)
c.6046T>C (p.Ser2016Pro)
c.5767T>C (p.Ser1923Pro)
c.4810T>C (p.Ser1604Pro)
c.4801T>C (p.Ser1601Pro)
5g.37045526T>GCA359504510NIPBLc.6427T>G (p.Ser2143Ala)
c.1-19052T>G (n.1-19052T>G)
c.5683T>G (p.Ser1895Ala)
c.6229T>G (p.Ser2077Ala)
c.6046T>G (p.Ser2016Ala)
c.5767T>G (p.Ser1923Ala)
c.4810T>G (p.Ser1604Ala)
c.4801T>G (p.Ser1601Ala)
5g.37045527C>ACA359504523NIPBLc.6428C>A (p.Ser2143Tyr)
c.1-19051C>A (n.1-19051C>A)
c.5684C>A (p.Ser1895Tyr)
c.6230C>A (p.Ser2077Tyr)
c.6047C>A (p.Ser2016Tyr)
c.5768C>A (p.Ser1923Tyr)
c.4811C>A (p.Ser1604Tyr)
c.4802C>A (p.Ser1601Tyr)
5g.37045527C>GCA359504517NIPBLc.6428C>G (p.Ser2143Cys)
c.1-19051C>G (n.1-19051C>G)
c.5684C>G (p.Ser1895Cys)
c.6230C>G (p.Ser2077Cys)
c.6047C>G (p.Ser2016Cys)
c.5768C>G (p.Ser1923Cys)
c.4811C>G (p.Ser1604Cys)
c.4802C>G (p.Ser1601Cys)
5g.37045527C>TCA359504519NIPBLc.6428C>T (p.Ser2143Phe)
c.1-19051C>T (n.1-19051C>T)
c.5684C>T (p.Ser1895Phe)
c.6230C>T (p.Ser2077Phe)
c.6047C>T (p.Ser2016Phe)
c.5768C>T (p.Ser1923Phe)
c.4811C>T (p.Ser1604Phe)
c.4802C>T (p.Ser1601Phe)
5g.37045528C>ACA443906963NIPBLc.6429C>A (p.Ser2143=)
c.1-19050C>A (n.1-19050C>A)
c.5685C>A (p.Ser1895=)
c.6231C>A (p.Ser2077=)
c.6048C>A (p.Ser2016=)
c.5769C>A (p.Ser1923=)
c.4812C>A (p.Ser1604=)
c.4803C>A (p.Ser1601=)
 dbSNP gnomAD v4
5g.37045528C=CA1539618530NIPBLc.6429C= (p.Ser2143=)
c.1-19050C= (n.1-19050C=)
c.5685C= (p.Ser1895=)
c.6231C= (p.Ser2077=)
c.6048C= (p.Ser2016=)
c.5769C= (p.Ser1923=)
c.4812C= (p.Ser1604=)
c.4803C= (p.Ser1601=)
5g.37045528C>GCA443906964NIPBLc.6429C>G (p.Ser2143=)
c.1-19050C>G (n.1-19050C>G)
c.5685C>G (p.Ser1895=)
c.6231C>G (p.Ser2077=)
c.6048C>G (p.Ser2016=)
c.5769C>G (p.Ser1923=)
c.4812C>G (p.Ser1604=)
c.4803C>G (p.Ser1601=)
 gnomAD v4
5g.37045528C>TCA443906965NIPBLc.6429C>T (p.Ser2143=)
c.1-19050C>T (n.1-19050C>T)
c.5685C>T (p.Ser1895=)
c.6231C>T (p.Ser2077=)
c.6048C>T (p.Ser2016=)
c.5769C>T (p.Ser1923=)
c.4812C>T (p.Ser1604=)
c.4803C>T (p.Ser1601=)
 dbSNP gnomAD v2 gnomAD v4
5g.37045529C>ACA359504526NIPBLc.6430C>A (p.Leu2144Ile)
c.1-19049C>A (n.1-19049C>A)
c.5686C>A (p.Leu1896Ile)
c.6232C>A (p.Leu2078Ile)
c.6049C>A (p.Leu2017Ile)
c.5770C>A (p.Leu1924Ile)
c.4813C>A (p.Leu1605Ile)
c.4804C>A (p.Leu1602Ile)
5g.37045529C>GCA359504528NIPBLc.6430C>G (p.Leu2144Val)
c.1-19049C>G (n.1-19049C>G)
c.5686C>G (p.Leu1896Val)
c.6232C>G (p.Leu2078Val)
c.6049C>G (p.Leu2017Val)
c.5770C>G (p.Leu1924Val)
c.4813C>G (p.Leu1605Val)
c.4804C>G (p.Leu1602Val)
5g.37045529C>TCA359504532NIPBLc.6430C>T (p.Leu2144Phe)
c.1-19049C>T (n.1-19049C>T)
c.5686C>T (p.Leu1896Phe)
c.6232C>T (p.Leu2078Phe)
c.6049C>T (p.Leu2017Phe)
c.5770C>T (p.Leu1924Phe)
c.4813C>T (p.Leu1605Phe)
c.4804C>T (p.Leu1602Phe)
 ClinVar
5g.37045530T>ACA359504533NIPBLc.6431T>A (p.Leu2144His)
c.1-19048T>A (n.1-19048T>A)
c.5687T>A (p.Leu1896His)
c.6233T>A (p.Leu2078His)
c.6050T>A (p.Leu2017His)
c.5771T>A (p.Leu1924His)
c.4814T>A (p.Leu1605His)
c.4805T>A (p.Leu1602His)
5g.37045530T>CCA359504534NIPBLc.6431T>C (p.Leu2144Pro)
c.1-19048T>C (n.1-19048T>C)
c.5687T>C (p.Leu1896Pro)
c.6233T>C (p.Leu2078Pro)
c.6050T>C (p.Leu2017Pro)
c.5771T>C (p.Leu1924Pro)
c.4814T>C (p.Leu1605Pro)
c.4805T>C (p.Leu1602Pro)
5g.37045530T>GCA359504535NIPBLc.6431T>G (p.Leu2144Arg)
c.1-19048T>G (n.1-19048T>G)
c.5687T>G (p.Leu1896Arg)
c.6233T>G (p.Leu2078Arg)
c.6050T>G (p.Leu2017Arg)
c.5771T>G (p.Leu1924Arg)
c.4814T>G (p.Leu1605Arg)
c.4805T>G (p.Leu1602Arg)
5g.37045531T>ACA443906966NIPBLc.6432T>A (p.Leu2144=)
c.1-19047T>A (n.1-19047T>A)
c.5688T>A (p.Leu1896=)
c.6234T>A (p.Leu2078=)
c.6051T>A (p.Leu2017=)
c.5772T>A (p.Leu1924=)
c.4815T>A (p.Leu1605=)
c.4806T>A (p.Leu1602=)
5g.37045531T>CCA443906967NIPBLc.6432T>C (p.Leu2144=)
c.1-19047T>C (n.1-19047T>C)
c.5688T>C (p.Leu1896=)
c.6234T>C (p.Leu2078=)
c.6051T>C (p.Leu2017=)
c.5772T>C (p.Leu1924=)
c.4815T>C (p.Leu1605=)
c.4806T>C (p.Leu1602=)
5g.37045531T>GCA443906968NIPBLc.6432T>G (p.Leu2144=)
c.1-19047T>G (n.1-19047T>G)
c.5688T>G (p.Leu1896=)
c.6234T>G (p.Leu2078=)
c.6051T>G (p.Leu2017=)
c.5772T>G (p.Leu1924=)
c.4815T>G (p.Leu1605=)
c.4806T>G (p.Leu1602=)
5g.37045532T>ACA359504536NIPBLc.6433T>A (p.Phe2145Ile)
c.1-19046T>A (n.1-19046T>A)
c.5689T>A (p.Phe1897Ile)
c.6235T>A (p.Phe2079Ile)
c.6052T>A (p.Phe2018Ile)
c.5773T>A (p.Phe1925Ile)
c.4816T>A (p.Phe1606Ile)
c.4807T>A (p.Phe1603Ile)
5g.37045532T>CCA359504538NIPBLc.6433T>C (p.Phe2145Leu)
c.1-19046T>C (n.1-19046T>C)
c.5689T>C (p.Phe1897Leu)
c.6235T>C (p.Phe2079Leu)
c.6052T>C (p.Phe2018Leu)
c.5773T>C (p.Phe1925Leu)
c.4816T>C (p.Phe1606Leu)
c.4807T>C (p.Phe1603Leu)
5g.37045532T>GCA359504542NIPBLc.6433T>G (p.Phe2145Val)
c.1-19046T>G (n.1-19046T>G)
c.5689T>G (p.Phe1897Val)
c.6235T>G (p.Phe2079Val)
c.6052T>G (p.Phe2018Val)
c.5773T>G (p.Phe1925Val)
c.4816T>G (p.Phe1606Val)
c.4807T>G (p.Phe1603Val)
5g.37045533T>ACA359504550NIPBLc.6434T>A (p.Phe2145Tyr)
c.1-19045T>A (n.1-19045T>A)
c.5690T>A (p.Phe1897Tyr)
c.6236T>A (p.Phe2079Tyr)
c.6053T>A (p.Phe2018Tyr)
c.5774T>A (p.Phe1925Tyr)
c.4817T>A (p.Phe1606Tyr)
c.4808T>A (p.Phe1603Tyr)

Number of alleles fetched