Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.37045577G>ACA359504813NIPBLc.6478G>A (p.Asp2160Asn)
c.1-19001G>A (p.=)
c.5734G>A (p.Asp1912Asn)
c.6280G>A (p.Asp2094Asn)
c.6097G>A (p.Asp2033Asn)
c.5818G>A (p.Asp1940Asn)
c.4861G>A (p.Asp1621Asn)
c.4852G>A (p.Asp1618Asn)
5g.37045577G>CCA359504824NIPBLc.6478G>C (p.Asp2160His)
c.1-19001G>C (p.=)
c.5734G>C (p.Asp1912His)
c.6280G>C (p.Asp2094His)
c.6097G>C (p.Asp2033His)
c.5818G>C (p.Asp1940His)
c.4861G>C (p.Asp1621His)
c.4852G>C (p.Asp1618His)
5g.37045577G=CA1539618591NIPBLc.6478G= (p.Asp2160=)
c.1-19001G= (p.=)
c.5734G= (p.Asp1912=)
c.6280G= (p.Asp2094=)
c.6097G= (p.Asp2033=)
c.5818G= (p.Asp1940=)
c.4861G= (p.Asp1621=)
c.4852G= (p.Asp1618=)
5g.37045577G>TCA272230NIPBLc.6478G>T (p.Asp2160Tyr)
c.1-19001G>T (p.=)
c.5734G>T (p.Asp1912Tyr)
c.6280G>T (p.Asp2094Tyr)
c.6097G>T (p.Asp2033Tyr)
c.5818G>T (p.Asp1940Tyr)
c.4861G>T (p.Asp1621Tyr)
c.4852G>T (p.Asp1618Tyr)
ClinVar dbSNP gnomAD
5g.37045578A>CCA359504825NIPBLc.6479A>C (p.Asp2160Ala)
c.1-19000A>C (p.=)
c.5735A>C (p.Asp1912Ala)
c.6281A>C (p.Asp2094Ala)
c.6098A>C (p.Asp2033Ala)
c.5819A>C (p.Asp1940Ala)
c.4862A>C (p.Asp1621Ala)
c.4853A>C (p.Asp1618Ala)
5g.37045578A>GCA359504826NIPBLc.6479A>G (p.Asp2160Gly)
c.1-19000A>G (p.=)
c.5735A>G (p.Asp1912Gly)
c.6281A>G (p.Asp2094Gly)
c.6098A>G (p.Asp2033Gly)
c.5819A>G (p.Asp1940Gly)
c.4862A>G (p.Asp1621Gly)
c.4853A>G (p.Asp1618Gly)
5g.37045578A>TCA359504827NIPBLc.6479A>T (p.Asp2160Val)
c.1-19000A>T (p.=)
c.5735A>T (p.Asp1912Val)
c.6281A>T (p.Asp2094Val)
c.6098A>T (p.Asp2033Val)
c.5819A>T (p.Asp1940Val)
c.4862A>T (p.Asp1621Val)
c.4853A>T (p.Asp1618Val)
5g.37045579T>ACA359504830NIPBLc.6480T>A (p.Asp2160Glu)
c.1-18999T>A (p.=)
c.5736T>A (p.Asp1912Glu)
c.6282T>A (p.Asp2094Glu)
c.6099T>A (p.Asp2033Glu)
c.5820T>A (p.Asp1940Glu)
c.4863T>A (p.Asp1621Glu)
c.4854T>A (p.Asp1618Glu)
5g.37045579T>CCA443907001NIPBLc.6480T>C (p.Asp2160=)
c.1-18999T>C (p.=)
c.5736T>C (p.Asp1912=)
c.6282T>C (p.Asp2094=)
c.6099T>C (p.Asp2033=)
c.5820T>C (p.Asp1940=)
c.4863T>C (p.Asp1621=)
c.4854T>C (p.Asp1618=)
5g.37045579T>GCA359504833NIPBLc.6480T>G (p.Asp2160Glu)
c.1-18999T>G (p.=)
c.5736T>G (p.Asp1912Glu)
c.6282T>G (p.Asp2094Glu)
c.6099T>G (p.Asp2033Glu)
c.5820T>G (p.Asp1940Glu)
c.4863T>G (p.Asp1621Glu)
c.4854T>G (p.Asp1618Glu)
COSMIC COSMIC
5g.37045579T=CA1539618600NIPBLc.6480T= (p.Asp2160=)
c.1-18999T= (p.=)
c.5736T= (p.Asp1912=)
c.6282T= (p.Asp2094=)
c.6099T= (p.Asp2033=)
c.5820T= (p.Asp1940=)
c.4863T= (p.Asp1621=)
c.4854T= (p.Asp1618=)
5g.37045580T>ACA359504835NIPBLc.6481T>A (p.Phe2161Ile)
c.1-18998T>A (p.=)
c.5737T>A (p.Phe1913Ile)
c.6283T>A (p.Phe2095Ile)
c.6100T>A (p.Phe2034Ile)
c.5821T>A (p.Phe1941Ile)
c.4864T>A (p.Phe1622Ile)
c.4855T>A (p.Phe1619Ile)
5g.37045580T>CCA359504845NIPBLc.6481T>C (p.Phe2161Leu)
c.1-18998T>C (p.=)
c.5737T>C (p.Phe1913Leu)
c.6283T>C (p.Phe2095Leu)
c.6100T>C (p.Phe2034Leu)
c.5821T>C (p.Phe1941Leu)
c.4864T>C (p.Phe1622Leu)
c.4855T>C (p.Phe1619Leu)
5g.37045580T>GCA359504847NIPBLc.6481T>G (p.Phe2161Val)
c.1-18998T>G (p.=)
c.5737T>G (p.Phe1913Val)
c.6283T>G (p.Phe2095Val)
c.6100T>G (p.Phe2034Val)
c.5821T>G (p.Phe1941Val)
c.4864T>G (p.Phe1622Val)
c.4855T>G (p.Phe1619Val)
5g.37045581T>ACA359504862NIPBLc.6482T>A (p.Phe2161Tyr)
c.1-18997T>A (p.=)
c.5738T>A (p.Phe1913Tyr)
c.6284T>A (p.Phe2095Tyr)
c.6101T>A (p.Phe2034Tyr)
c.5822T>A (p.Phe1941Tyr)
c.4865T>A (p.Phe1622Tyr)
c.4856T>A (p.Phe1619Tyr)
5g.37045581T>CCA359504877NIPBLc.6482T>C (p.Phe2161Ser)
c.1-18997T>C (p.=)
c.5738T>C (p.Phe1913Ser)
c.6284T>C (p.Phe2095Ser)
c.6101T>C (p.Phe2034Ser)
c.5822T>C (p.Phe1941Ser)
c.4865T>C (p.Phe1622Ser)
c.4856T>C (p.Phe1619Ser)
5g.37045581T>GCA359504851NIPBLc.6482T>G (p.Phe2161Cys)
c.1-18997T>G (p.=)
c.5738T>G (p.Phe1913Cys)
c.6284T>G (p.Phe2095Cys)
c.6101T>G (p.Phe2034Cys)
c.5822T>G (p.Phe1941Cys)
c.4865T>G (p.Phe1622Cys)
c.4856T>G (p.Phe1619Cys)
5g.37045582T>ACA359504882NIPBLc.6483T>A (p.Phe2161Leu)
c.1-18996T>A (p.=)
c.5739T>A (p.Phe1913Leu)
c.6285T>A (p.Phe2095Leu)
c.6102T>A (p.Phe2034Leu)
c.5823T>A (p.Phe1941Leu)
c.4866T>A (p.Phe1622Leu)
c.4857T>A (p.Phe1619Leu)
5g.37045582T>CCA443907002NIPBLc.6483T>C (p.Phe2161=)
c.1-18996T>C (p.=)
c.5739T>C (p.Phe1913=)
c.6285T>C (p.Phe2095=)
c.6102T>C (p.Phe2034=)
c.5823T>C (p.Phe1941=)
c.4866T>C (p.Phe1622=)
c.4857T>C (p.Phe1619=)
5g.37045582T>GCA359504880NIPBLc.6483T>G (p.Phe2161Leu)
c.1-18996T>G (p.=)
c.5739T>G (p.Phe1913Leu)
c.6285T>G (p.Phe2095Leu)
c.6102T>G (p.Phe2034Leu)
c.5823T>G (p.Phe1941Leu)
c.4866T>G (p.Phe1622Leu)
c.4857T>G (p.Phe1619Leu)
5g.37045583A>CCA359504884NIPBLc.6484A>C (p.Lys2162Gln)
c.1-18995A>C (p.=)
c.5740A>C (p.Lys1914Gln)
c.6286A>C (p.Lys2096Gln)
c.6103A>C (p.Lys2035Gln)
c.5824A>C (p.Lys1942Gln)
c.4867A>C (p.Lys1623Gln)
c.4858A>C (p.Lys1620Gln)
5g.37045583A>GCA359504886NIPBLc.6484A>G (p.Lys2162Glu)
c.1-18995A>G (p.=)
c.5740A>G (p.Lys1914Glu)
c.6286A>G (p.Lys2096Glu)
c.6103A>G (p.Lys2035Glu)
c.5824A>G (p.Lys1942Glu)
c.4867A>G (p.Lys1623Glu)
c.4858A>G (p.Lys1620Glu)
5g.37045583A>TCA359504889NIPBLc.6484A>T (p.Lys2162Ter)
c.1-18995A>T (p.=)
c.5740A>T (p.Lys1914Ter)
c.6286A>T (p.Lys2096Ter)
c.6103A>T (p.Lys2035Ter)
c.5824A>T (p.Lys1942Ter)
c.4867A>T (p.Lys1623Ter)
c.4858A>T (p.Lys1620Ter)
5g.37045584A>CCA359504892NIPBLc.6485A>C (p.Lys2162Thr)
c.1-18994A>C (p.=)
c.5741A>C (p.Lys1914Thr)
c.6287A>C (p.Lys2096Thr)
c.6104A>C (p.Lys2035Thr)
c.5825A>C (p.Lys1942Thr)
c.4868A>C (p.Lys1623Thr)
c.4859A>C (p.Lys1620Thr)
5g.37045584A>GCA359504896NIPBLc.6485A>G (p.Lys2162Arg)
c.1-18994A>G (p.=)
c.5741A>G (p.Lys1914Arg)
c.6287A>G (p.Lys2096Arg)
c.6104A>G (p.Lys2035Arg)
c.5825A>G (p.Lys1942Arg)
c.4868A>G (p.Lys1623Arg)
c.4859A>G (p.Lys1620Arg)
5g.37045584A>TCA359504904NIPBLc.6485A>T (p.Lys2162Ile)
c.1-18994A>T (p.=)
c.5741A>T (p.Lys1914Ile)
c.6287A>T (p.Lys2096Ile)
c.6104A>T (p.Lys2035Ile)
c.5825A>T (p.Lys1942Ile)
c.4868A>T (p.Lys1623Ile)
c.4859A>T (p.Lys1620Ile)
5g.37045585A=CA1539618605NIPBLc.6486A= (p.Lys2162=)
c.1-18993A= (p.=)
c.5742A= (p.Lys1914=)
c.6288A= (p.Lys2096=)
c.6105A= (p.Lys2035=)
c.5826A= (p.Lys1942=)
c.4869A= (p.Lys1623=)
c.4860A= (p.Lys1620=)
5g.37045585A>CCA359504910NIPBLc.6486A>C (p.Lys2162Asn)
c.1-18993A>C (p.=)
c.5742A>C (p.Lys1914Asn)
c.6288A>C (p.Lys2096Asn)
c.6105A>C (p.Lys2035Asn)
c.5826A>C (p.Lys1942Asn)
c.4869A>C (p.Lys1623Asn)
c.4860A>C (p.Lys1620Asn)
5g.37045585A>GCA443907003NIPBLc.6486A>G (p.Lys2162=)
c.1-18993A>G (p.=)
c.5742A>G (p.Lys1914=)
c.6288A>G (p.Lys2096=)
c.6105A>G (p.Lys2035=)
c.5826A>G (p.Lys1942=)
c.4869A>G (p.Lys1623=)
c.4860A>G (p.Lys1620=)
5g.37045585A>TCA359504920NIPBLc.6486A>T (p.Lys2162Asn)
c.1-18993A>T (p.=)
c.5742A>T (p.Lys1914Asn)
c.6288A>T (p.Lys2096Asn)
c.6105A>T (p.Lys2035Asn)
c.5826A>T (p.Lys1942Asn)
c.4869A>T (p.Lys1623Asn)
c.4860A>T (p.Lys1620Asn)
gnomAD
5g.37045586G>ACA359504926NIPBLc.6487G>A (p.Gly2163Ser)
c.1-18992G>A (p.=)
c.5743G>A (p.Gly1915Ser)
c.6289G>A (p.Gly2097Ser)
c.6106G>A (p.Gly2036Ser)
c.5827G>A (p.Gly1943Ser)
c.4870G>A (p.Gly1624Ser)
c.4861G>A (p.Gly1621Ser)
5g.37045586G>CCA359504929NIPBLc.6487G>C (p.Gly2163Arg)
c.1-18992G>C (p.=)
c.5743G>C (p.Gly1915Arg)
c.6289G>C (p.Gly2097Arg)
c.6106G>C (p.Gly2036Arg)
c.5827G>C (p.Gly1943Arg)
c.4870G>C (p.Gly1624Arg)
c.4861G>C (p.Gly1621Arg)
5g.37045586G>TCA359504930NIPBLc.6487G>T (p.Gly2163Cys)
c.1-18992G>T (p.=)
c.5743G>T (p.Gly1915Cys)
c.6289G>T (p.Gly2097Cys)
c.6106G>T (p.Gly2036Cys)
c.5827G>T (p.Gly1943Cys)
c.4870G>T (p.Gly1624Cys)
c.4861G>T (p.Gly1621Cys)
5g.37045587G>ACA359504934NIPBLc.6488G>A (p.Gly2163Asp)
c.1-18991G>A (p.=)
c.5744G>A (p.Gly1915Asp)
c.6290G>A (p.Gly2097Asp)
c.6107G>A (p.Gly2036Asp)
c.5828G>A (p.Gly1943Asp)
c.4871G>A (p.Gly1624Asp)
c.4862G>A (p.Gly1621Asp)
5g.37045587G>CCA359504937NIPBLc.6488G>C (p.Gly2163Ala)
c.1-18991G>C (p.=)
c.5744G>C (p.Gly1915Ala)
c.6290G>C (p.Gly2097Ala)
c.6107G>C (p.Gly2036Ala)
c.5828G>C (p.Gly1943Ala)
c.4871G>C (p.Gly1624Ala)
c.4862G>C (p.Gly1621Ala)
5g.37045587G>TCA359504931NIPBLc.6488G>T (p.Gly2163Val)
c.1-18991G>T (p.=)
c.5744G>T (p.Gly1915Val)
c.6290G>T (p.Gly2097Val)
c.6107G>T (p.Gly2036Val)
c.5828G>T (p.Gly1943Val)
c.4871G>T (p.Gly1624Val)
c.4862G>T (p.Gly1621Val)
5g.37045588C>ACA443907006NIPBLc.6489C>A (p.Gly2163=)
c.1-18990C>A (p.=)
c.5745C>A (p.Gly1915=)
c.6291C>A (p.Gly2097=)
c.6108C>A (p.Gly2036=)
c.5829C>A (p.Gly1943=)
c.4872C>A (p.Gly1624=)
c.4863C>A (p.Gly1621=)
5g.37045588C>GCA443907005NIPBLc.6489C>G (p.Gly2163=)
c.1-18990C>G (p.=)
c.5745C>G (p.Gly1915=)
c.6291C>G (p.Gly2097=)
c.6108C>G (p.Gly2036=)
c.5829C>G (p.Gly1943=)
c.4872C>G (p.Gly1624=)
c.4863C>G (p.Gly1621=)
5g.37045588C>TCA443907004NIPBLc.6489C>T (p.Gly2163=)
c.1-18990C>T (p.=)
c.5745C>T (p.Gly1915=)
c.6291C>T (p.Gly2097=)
c.6108C>T (p.Gly2036=)
c.5829C>T (p.Gly1943=)
c.4872C>T (p.Gly1624=)
c.4863C>T (p.Gly1621=)
5g.37045589A>CCA359504942NIPBLc.6490A>C (p.Asn2164His)
c.1-18989A>C (p.=)
c.5746A>C (p.Asn1916His)
c.6292A>C (p.Asn2098His)
c.6109A>C (p.Asn2037His)
c.5830A>C (p.Asn1944His)
c.4873A>C (p.Asn1625His)
c.4864A>C (p.Asn1622His)
5g.37045589A>GCA359504944NIPBLc.6490A>G (p.Asn2164Asp)
c.1-18989A>G (p.=)
c.5746A>G (p.Asn1916Asp)
c.6292A>G (p.Asn2098Asp)
c.6109A>G (p.Asn2037Asp)
c.5830A>G (p.Asn1944Asp)
c.4873A>G (p.Asn1625Asp)
c.4864A>G (p.Asn1622Asp)
5g.37045589A>TCA359504945NIPBLc.6490A>T (p.Asn2164Tyr)
c.1-18989A>T (p.=)
c.5746A>T (p.Asn1916Tyr)
c.6292A>T (p.Asn2098Tyr)
c.6109A>T (p.Asn2037Tyr)
c.5830A>T (p.Asn1944Tyr)
c.4873A>T (p.Asn1625Tyr)
c.4864A>T (p.Asn1622Tyr)
5g.37045590A=CA1539618607NIPBLc.6491A= (p.Asn2164=)
c.1-18988A= (p.=)
c.5747A= (p.Asn1916=)
c.6293A= (p.Asn2098=)
c.6110A= (p.Asn2037=)
c.5831A= (p.Asn1944=)
c.4874A= (p.Asn1625=)
c.4865A= (p.Asn1622=)
5g.37045590A>CCA359504950NIPBLc.6491A>C (p.Asn2164Thr)
c.1-18988A>C (p.=)
c.5747A>C (p.Asn1916Thr)
c.6293A>C (p.Asn2098Thr)
c.6110A>C (p.Asn2037Thr)
c.5831A>C (p.Asn1944Thr)
c.4874A>C (p.Asn1625Thr)
c.4865A>C (p.Asn1622Thr)
gnomAD
5g.37045590A>GCA359504956NIPBLc.6491A>G (p.Asn2164Ser)
c.1-18988A>G (p.=)
c.5747A>G (p.Asn1916Ser)
c.6293A>G (p.Asn2098Ser)
c.6110A>G (p.Asn2037Ser)
c.5831A>G (p.Asn1944Ser)
c.4874A>G (p.Asn1625Ser)
c.4865A>G (p.Asn1622Ser)
5g.37045590A>TCA359504972NIPBLc.6491A>T (p.Asn2164Ile)
c.1-18988A>T (p.=)
c.5747A>T (p.Asn1916Ile)
c.6293A>T (p.Asn2098Ile)
c.6110A>T (p.Asn2037Ile)
c.5831A>T (p.Asn1944Ile)
c.4874A>T (p.Asn1625Ile)
c.4865A>T (p.Asn1622Ile)
5g.37045591C>ACA359504974NIPBLc.6492C>A (p.Asn2164Lys)
c.1-18987C>A (p.=)
c.5748C>A (p.Asn1916Lys)
c.6294C>A (p.Asn2098Lys)
c.6111C>A (p.Asn2037Lys)
c.5832C>A (p.Asn1944Lys)
c.4875C>A (p.Asn1625Lys)
c.4866C>A (p.Asn1622Lys)
5g.37045591C=CA1539618609NIPBLc.6492C= (p.Asn2164=)
c.1-18987C= (p.=)
c.5748C= (p.Asn1916=)
c.6294C= (p.Asn2098=)
c.6111C= (p.Asn2037=)
c.5832C= (p.Asn1944=)
c.4875C= (p.Asn1625=)
c.4866C= (p.Asn1622=)
5g.37045591C>GCA359504977NIPBLc.6492C>G (p.Asn2164Lys)
c.1-18987C>G (p.=)
c.5748C>G (p.Asn1916Lys)
c.6294C>G (p.Asn2098Lys)
c.6111C>G (p.Asn2037Lys)
c.5832C>G (p.Asn1944Lys)
c.4875C>G (p.Asn1625Lys)
c.4866C>G (p.Asn1622Lys)
5g.37045591C>TCA443907007NIPBLc.6492C>T (p.Asn2164=)
c.1-18987C>T (p.=)
c.5748C>T (p.Asn1916=)
c.6294C>T (p.Asn2098=)
c.6111C>T (p.Asn2037=)
c.5832C>T (p.Asn1944=)
c.4875C>T (p.Asn1625=)
c.4866C>T (p.Asn1622=)

Number of alleles fetched