Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.37045491C>ACA359504274NIPBLc.6392C>A (p.Thr2131Asn)
c.1-19087C>A (n.1-19087C>A)
c.5648C>A (p.Thr1883Asn)
c.6194C>A (p.Thr2065Asn)
c.6011C>A (p.Thr2004Asn)
c.5732C>A (p.Thr1911Asn)
c.4775C>A (p.Thr1592Asn)
c.4766C>A (p.Thr1589Asn)
5g.37045491C>GCA359504280NIPBLc.6392C>G (p.Thr2131Ser)
c.1-19087C>G (n.1-19087C>G)
c.5648C>G (p.Thr1883Ser)
c.6194C>G (p.Thr2065Ser)
c.6011C>G (p.Thr2004Ser)
c.5732C>G (p.Thr1911Ser)
c.4775C>G (p.Thr1592Ser)
c.4766C>G (p.Thr1589Ser)
5g.37045491C>TCA359504277NIPBLc.6392C>T (p.Thr2131Ile)
c.1-19087C>T (n.1-19087C>T)
c.5648C>T (p.Thr1883Ile)
c.6194C>T (p.Thr2065Ile)
c.6011C>T (p.Thr2004Ile)
c.5732C>T (p.Thr1911Ile)
c.4775C>T (p.Thr1592Ile)
c.4766C>T (p.Thr1589Ile)
5g.37045492T>ACA443906775NIPBLc.6393T>A (p.Thr2131=)
c.1-19086T>A (n.1-19086T>A)
c.5649T>A (p.Thr1883=)
c.6195T>A (p.Thr2065=)
c.6012T>A (p.Thr2004=)
c.5733T>A (p.Thr1911=)
c.4776T>A (p.Thr1592=)
c.4767T>A (p.Thr1589=)
5g.37045492T>CCA443906777NIPBLc.6393T>C (p.Thr2131=)
c.1-19086T>C (n.1-19086T>C)
c.5649T>C (p.Thr1883=)
c.6195T>C (p.Thr2065=)
c.6012T>C (p.Thr2004=)
c.5733T>C (p.Thr1911=)
c.4776T>C (p.Thr1592=)
c.4767T>C (p.Thr1589=)
5g.37045492T>GCA443906779NIPBLc.6393T>G (p.Thr2131=)
c.1-19086T>G (n.1-19086T>G)
c.5649T>G (p.Thr1883=)
c.6195T>G (p.Thr2065=)
c.6012T>G (p.Thr2004=)
c.5733T>G (p.Thr1911=)
c.4776T>G (p.Thr1592=)
c.4767T>G (p.Thr1589=)
5g.37045493T>ACA359504283NIPBLc.6394T>A (p.Ser2132Thr)
c.1-19085T>A (n.1-19085T>A)
c.5650T>A (p.Ser1884Thr)
c.6196T>A (p.Ser2066Thr)
c.6013T>A (p.Ser2005Thr)
c.5734T>A (p.Ser1912Thr)
c.4777T>A (p.Ser1593Thr)
c.4768T>A (p.Ser1590Thr)
5g.37045493T>CCA359504286NIPBLc.6394T>C (p.Ser2132Pro)
c.1-19085T>C (n.1-19085T>C)
c.5650T>C (p.Ser1884Pro)
c.6196T>C (p.Ser2066Pro)
c.6013T>C (p.Ser2005Pro)
c.5734T>C (p.Ser1912Pro)
c.4777T>C (p.Ser1593Pro)
c.4768T>C (p.Ser1590Pro)
5g.37045493T>GCA359504287NIPBLc.6394T>G (p.Ser2132Ala)
c.1-19085T>G (n.1-19085T>G)
c.5650T>G (p.Ser1884Ala)
c.6196T>G (p.Ser2066Ala)
c.6013T>G (p.Ser2005Ala)
c.5734T>G (p.Ser1912Ala)
c.4777T>G (p.Ser1593Ala)
c.4768T>G (p.Ser1590Ala)
5g.37045494C>ACA359504290NIPBLc.6395C>A (p.Ser2132Ter)
c.1-19084C>A (n.1-19084C>A)
c.5651C>A (p.Ser1884Ter)
c.6197C>A (p.Ser2066Ter)
c.6014C>A (p.Ser2005Ter)
c.5735C>A (p.Ser1912Ter)
c.4778C>A (p.Ser1593Ter)
c.4769C>A (p.Ser1590Ter)
5g.37045494C>GCA359504292NIPBLc.6395C>G (p.Ser2132Ter)
c.1-19084C>G (n.1-19084C>G)
c.5651C>G (p.Ser1884Ter)
c.6197C>G (p.Ser2066Ter)
c.6014C>G (p.Ser2005Ter)
c.5735C>G (p.Ser1912Ter)
c.4778C>G (p.Ser1593Ter)
c.4769C>G (p.Ser1590Ter)
5g.37045494C>TCA359504294NIPBLc.6395C>T (p.Ser2132Leu)
c.1-19084C>T (n.1-19084C>T)
c.5651C>T (p.Ser1884Leu)
c.6197C>T (p.Ser2066Leu)
c.6014C>T (p.Ser2005Leu)
c.5735C>T (p.Ser1912Leu)
c.4778C>T (p.Ser1593Leu)
c.4769C>T (p.Ser1590Leu)
5g.37045495A>CCA443906791NIPBLc.6396A>C (p.Ser2132=)
c.1-19083A>C (n.1-19083A>C)
c.5652A>C (p.Ser1884=)
c.6198A>C (p.Ser2066=)
c.6015A>C (p.Ser2005=)
c.5736A>C (p.Ser1912=)
c.4779A>C (p.Ser1593=)
c.4770A>C (p.Ser1590=)
5g.37045495A>GCA443906793NIPBLc.6396A>G (p.Ser2132=)
c.1-19083A>G (n.1-19083A>G)
c.5652A>G (p.Ser1884=)
c.6198A>G (p.Ser2066=)
c.6015A>G (p.Ser2005=)
c.5736A>G (p.Ser1912=)
c.4779A>G (p.Ser1593=)
c.4770A>G (p.Ser1590=)
5g.37045495A>TCA443906795NIPBLc.6396A>T (p.Ser2132=)
c.1-19083A>T (n.1-19083A>T)
c.5652A>T (p.Ser1884=)
c.6198A>T (p.Ser2066=)
c.6015A>T (p.Ser2005=)
c.5736A>T (p.Ser1912=)
c.4779A>T (p.Ser1593=)
c.4770A>T (p.Ser1590=)
5g.37045496C>ACA359504298NIPBLc.6397C>A (p.Leu2133Ile)
c.1-19082C>A (n.1-19082C>A)
c.5653C>A (p.Leu1885Ile)
c.6199C>A (p.Leu2067Ile)
c.6016C>A (p.Leu2006Ile)
c.5737C>A (p.Leu1913Ile)
c.4780C>A (p.Leu1594Ile)
c.4771C>A (p.Leu1591Ile)
5g.37045496C>GCA359504307NIPBLc.6397C>G (p.Leu2133Val)
c.1-19082C>G (n.1-19082C>G)
c.5653C>G (p.Leu1885Val)
c.6199C>G (p.Leu2067Val)
c.6016C>G (p.Leu2006Val)
c.5737C>G (p.Leu1913Val)
c.4780C>G (p.Leu1594Val)
c.4771C>G (p.Leu1591Val)
5g.37045496C>TCA359504309NIPBLc.6397C>T (p.Leu2133Phe)
c.1-19082C>T (n.1-19082C>T)
c.5653C>T (p.Leu1885Phe)
c.6199C>T (p.Leu2067Phe)
c.6016C>T (p.Leu2006Phe)
c.5737C>T (p.Leu1913Phe)
c.4780C>T (p.Leu1594Phe)
c.4771C>T (p.Leu1591Phe)
5g.37045497T>ACA359504311NIPBLc.6398T>A (p.Leu2133His)
c.1-19081T>A (n.1-19081T>A)
c.5654T>A (p.Leu1885His)
c.6200T>A (p.Leu2067His)
c.6017T>A (p.Leu2006His)
c.5738T>A (p.Leu1913His)
c.4781T>A (p.Leu1594His)
c.4772T>A (p.Leu1591His)
5g.37045497T>CCA359504314NIPBLc.6398T>C (p.Leu2133Pro)
c.1-19081T>C (n.1-19081T>C)
c.5654T>C (p.Leu1885Pro)
c.6200T>C (p.Leu2067Pro)
c.6017T>C (p.Leu2006Pro)
c.5738T>C (p.Leu1913Pro)
c.4781T>C (p.Leu1594Pro)
c.4772T>C (p.Leu1591Pro)
5g.37045497T>GCA359504317NIPBLc.6398T>G (p.Leu2133Arg)
c.1-19081T>G (n.1-19081T>G)
c.5654T>G (p.Leu1885Arg)
c.6200T>G (p.Leu2067Arg)
c.6017T>G (p.Leu2006Arg)
c.5738T>G (p.Leu1913Arg)
c.4781T>G (p.Leu1594Arg)
c.4772T>G (p.Leu1591Arg)
5g.37045498T>ACA443906808NIPBLc.6399T>A (p.Leu2133=)
c.1-19080T>A (n.1-19080T>A)
c.5655T>A (p.Leu1885=)
c.6201T>A (p.Leu2067=)
c.6018T>A (p.Leu2006=)
c.5739T>A (p.Leu1913=)
c.4782T>A (p.Leu1594=)
c.4773T>A (p.Leu1591=)
5g.37045498T>CCA3236998NIPBLc.6399T>C (p.Leu2133=)
c.1-19080T>C (n.1-19080T>C)
c.5655T>C (p.Leu1885=)
c.6201T>C (p.Leu2067=)
c.6018T>C (p.Leu2006=)
c.5739T>C (p.Leu1913=)
c.4782T>C (p.Leu1594=)
c.4773T>C (p.Leu1591=)
dbSNP ExAC gnomAD
5g.37045498T>GCA443906812NIPBLc.6399T>G (p.Leu2133=)
c.1-19080T>G (n.1-19080T>G)
c.5655T>G (p.Leu1885=)
c.6201T>G (p.Leu2067=)
c.6018T>G (p.Leu2006=)
c.5739T>G (p.Leu1913=)
c.4782T>G (p.Leu1594=)
c.4773T>G (p.Leu1591=)
5g.37045498T=CA1539618503NIPBLc.6399T= (p.Leu2133=)
c.1-19080T= (n.1-19080T=)
c.5655T= (p.Leu1885=)
c.6201T= (p.Leu2067=)
c.6018T= (p.Leu2006=)
c.5739T= (p.Leu1913=)
c.4782T= (p.Leu1594=)
c.4773T= (p.Leu1591=)
5g.37045499C>ACA359504325NIPBLc.6400C>A (p.Leu2134Ile)
c.1-19079C>A (n.1-19079C>A)
c.5656C>A (p.Leu1886Ile)
c.6202C>A (p.Leu2068Ile)
c.6019C>A (p.Leu2007Ile)
c.5740C>A (p.Leu1914Ile)
c.4783C>A (p.Leu1595Ile)
c.4774C>A (p.Leu1592Ile)
5g.37045499C=CA1539618512NIPBLc.6400C= (p.Leu2134=)
c.1-19079C= (n.1-19079C=)
c.5656C= (p.Leu1886=)
c.6202C= (p.Leu2068=)
c.6019C= (p.Leu2007=)
c.5740C= (p.Leu1914=)
c.4783C= (p.Leu1595=)
c.4774C= (p.Leu1592=)
5g.37045499C>GCA359504323NIPBLc.6400C>G (p.Leu2134Val)
c.1-19079C>G (n.1-19079C>G)
c.5656C>G (p.Leu1886Val)
c.6202C>G (p.Leu2068Val)
c.6019C>G (p.Leu2007Val)
c.5740C>G (p.Leu1914Val)
c.4783C>G (p.Leu1595Val)
c.4774C>G (p.Leu1592Val)
5g.37045499C>TCA172746NIPBLc.6400C>T (p.Leu2134=)
c.1-19079C>T (n.1-19079C>T)
c.5656C>T (p.Leu1886=)
c.6202C>T (p.Leu2068=)
c.6019C>T (p.Leu2007=)
c.5740C>T (p.Leu1914=)
c.4783C>T (p.Leu1595=)
c.4774C>T (p.Leu1592=)
ClinVar dbSNP ExAC gnomAD
5g.37045500_37045503dupCA645372767NIPBLc.6401_6404dup (p.Pro2138GlnfsTer6)
c.1-19078_1-19075dup (n.1-19078_1-19075dup)
c.5657_5660dup (p.Pro1890GlnfsTer6)
c.6203_6206dup (p.Pro2072GlnfsTer6)
c.6020_6023dup (p.Pro2011GlnfsTer6)
c.5741_5744dup (p.Pro1918GlnfsTer6)
c.4784_4787dup (p.Pro1599GlnfsTer6)
c.4775_4778dup (p.Pro1596GlnfsTer6)
ClinVar dbSNP
5g.37045500T>ACA359504329NIPBLc.6401T>A (p.Leu2134Gln)
c.1-19078T>A (n.1-19078T>A)
c.5657T>A (p.Leu1886Gln)
c.6203T>A (p.Leu2068Gln)
c.6020T>A (p.Leu2007Gln)
c.5741T>A (p.Leu1914Gln)
c.4784T>A (p.Leu1595Gln)
c.4775T>A (p.Leu1592Gln)
5g.37045500T>CCA359504337NIPBLc.6401T>C (p.Leu2134Pro)
c.1-19078T>C (n.1-19078T>C)
c.5657T>C (p.Leu1886Pro)
c.6203T>C (p.Leu2068Pro)
c.6020T>C (p.Leu2007Pro)
c.5741T>C (p.Leu1914Pro)
c.4784T>C (p.Leu1595Pro)
c.4775T>C (p.Leu1592Pro)
5g.37045500T>GCA359504332NIPBLc.6401T>G (p.Leu2134Arg)
c.1-19078T>G (n.1-19078T>G)
c.5657T>G (p.Leu1886Arg)
c.6203T>G (p.Leu2068Arg)
c.6020T>G (p.Leu2007Arg)
c.5741T>G (p.Leu1914Arg)
c.4784T>G (p.Leu1595Arg)
c.4775T>G (p.Leu1592Arg)
5g.37045501A=CA1539618520NIPBLc.6402A= (p.Leu2134=)
c.1-19077A= (n.1-19077A=)
c.5658A= (p.Leu1886=)
c.6204A= (p.Leu2068=)
c.6021A= (p.Leu2007=)
c.5742A= (p.Leu1914=)
c.4785A= (p.Leu1595=)
c.4776A= (p.Leu1592=)
5g.37045501A>CCA443906824NIPBLc.6402A>C (p.Leu2134=)
c.1-19077A>C (n.1-19077A>C)
c.5658A>C (p.Leu1886=)
c.6204A>C (p.Leu2068=)
c.6021A>C (p.Leu2007=)
c.5742A>C (p.Leu1914=)
c.4785A>C (p.Leu1595=)
c.4776A>C (p.Leu1592=)
5g.37045501A>GCA3236999NIPBLc.6402A>G (p.Leu2134=)
c.1-19077A>G (n.1-19077A>G)
c.5658A>G (p.Leu1886=)
c.6204A>G (p.Leu2068=)
c.6021A>G (p.Leu2007=)
c.5742A>G (p.Leu1914=)
c.4785A>G (p.Leu1595=)
c.4776A>G (p.Leu1592=)
ClinVar dbSNP ExAC gnomAD
5g.37045501A>TCA443906827NIPBLc.6402A>T (p.Leu2134=)
c.1-19077A>T (n.1-19077A>T)
c.5658A>T (p.Leu1886=)
c.6204A>T (p.Leu2068=)
c.6021A>T (p.Leu2007=)
c.5742A>T (p.Leu1914=)
c.4785A>T (p.Leu1595=)
c.4776A>T (p.Leu1592=)
5g.37045502A>CCA359504341NIPBLc.6403A>C (p.Thr2135Pro)
c.1-19076A>C (n.1-19076A>C)
c.5659A>C (p.Thr1887Pro)
c.6205A>C (p.Thr2069Pro)
c.6022A>C (p.Thr2008Pro)
c.5743A>C (p.Thr1915Pro)
c.4786A>C (p.Thr1596Pro)
c.4777A>C (p.Thr1593Pro)
5g.37045502A>GCA359504344NIPBLc.6403A>G (p.Thr2135Ala)
c.1-19076A>G (n.1-19076A>G)
c.5659A>G (p.Thr1887Ala)
c.6205A>G (p.Thr2069Ala)
c.6022A>G (p.Thr2008Ala)
c.5743A>G (p.Thr1915Ala)
c.4786A>G (p.Thr1596Ala)
c.4777A>G (p.Thr1593Ala)
5g.37045502A>TCA359504346NIPBLc.6403A>T (p.Thr2135Ser)
c.1-19076A>T (n.1-19076A>T)
c.5659A>T (p.Thr1887Ser)
c.6205A>T (p.Thr2069Ser)
c.6022A>T (p.Thr2008Ser)
c.5743A>T (p.Thr1915Ser)
c.4786A>T (p.Thr1596Ser)
c.4777A>T (p.Thr1593Ser)
5g.37045503C>ACA359504348NIPBLc.6404C>A (p.Thr2135Lys)
c.1-19075C>A (n.1-19075C>A)
c.5660C>A (p.Thr1887Lys)
c.6206C>A (p.Thr2069Lys)
c.6023C>A (p.Thr2008Lys)
c.5744C>A (p.Thr1915Lys)
c.4787C>A (p.Thr1596Lys)
c.4778C>A (p.Thr1593Lys)
gnomAD
5g.37045503C=CA1539618525NIPBLc.6404C= (p.Thr2135=)
c.1-19075C= (n.1-19075C=)
c.5660C= (p.Thr1887=)
c.6206C= (p.Thr2069=)
c.6023C= (p.Thr2008=)
c.5744C= (p.Thr1915=)
c.4787C= (p.Thr1596=)
c.4778C= (p.Thr1593=)
5g.37045503C>GCA359504349NIPBLc.6404C>G (p.Thr2135Arg)
c.1-19075C>G (n.1-19075C>G)
c.5660C>G (p.Thr1887Arg)
c.6206C>G (p.Thr2069Arg)
c.6023C>G (p.Thr2008Arg)
c.5744C>G (p.Thr1915Arg)
c.4787C>G (p.Thr1596Arg)
c.4778C>G (p.Thr1593Arg)
5g.37045503C>TCA359504352NIPBLc.6404C>T (p.Thr2135Ile)
c.1-19075C>T (n.1-19075C>T)
c.5660C>T (p.Thr1887Ile)
c.6206C>T (p.Thr2069Ile)
c.6023C>T (p.Thr2008Ile)
c.5744C>T (p.Thr1915Ile)
c.4787C>T (p.Thr1596Ile)
c.4778C>T (p.Thr1593Ile)
5g.37045504A>CCA443906840NIPBLc.6405A>C (p.Thr2135=)
c.1-19074A>C (n.1-19074A>C)
c.5661A>C (p.Thr1887=)
c.6207A>C (p.Thr2069=)
c.6024A>C (p.Thr2008=)
c.5745A>C (p.Thr1915=)
c.4788A>C (p.Thr1596=)
c.4779A>C (p.Thr1593=)
5g.37045504A>GCA443906842NIPBLc.6405A>G (p.Thr2135=)
c.1-19074A>G (n.1-19074A>G)
c.5661A>G (p.Thr1887=)
c.6207A>G (p.Thr2069=)
c.6024A>G (p.Thr2008=)
c.5745A>G (p.Thr1915=)
c.4788A>G (p.Thr1596=)
c.4779A>G (p.Thr1593=)
5g.37045504A>TCA443906838NIPBLc.6405A>T (p.Thr2135=)
c.1-19074A>T (n.1-19074A>T)
c.5661A>T (p.Thr1887=)
c.6207A>T (p.Thr2069=)
c.6024A>T (p.Thr2008=)
c.5745A>T (p.Thr1915=)
c.4788A>T (p.Thr1596=)
c.4779A>T (p.Thr1593=)
5g.37045505A>CCA359504355NIPBLc.6406A>C (p.Asn2136His)
c.1-19073A>C (n.1-19073A>C)
c.5662A>C (p.Asn1888His)
c.6208A>C (p.Asn2070His)
c.6025A>C (p.Asn2009His)
c.5746A>C (p.Asn1916His)
c.4789A>C (p.Asn1597His)
c.4780A>C (p.Asn1594His)
5g.37045505A>GCA359504357NIPBLc.6406A>G (p.Asn2136Asp)
c.1-19073A>G (n.1-19073A>G)
c.5662A>G (p.Asn1888Asp)
c.6208A>G (p.Asn2070Asp)
c.6025A>G (p.Asn2009Asp)
c.5746A>G (p.Asn1916Asp)
c.4789A>G (p.Asn1597Asp)
c.4780A>G (p.Asn1594Asp)
5g.37045505A>TCA359504359NIPBLc.6406A>T (p.Asn2136Tyr)
c.1-19073A>T (n.1-19073A>T)
c.5662A>T (p.Asn1888Tyr)
c.6208A>T (p.Asn2070Tyr)
c.6025A>T (p.Asn2009Tyr)
c.5746A>T (p.Asn1916Tyr)
c.4789A>T (p.Asn1597Tyr)
c.4780A>T (p.Asn1594Tyr)

Number of alleles fetched