Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.37045585A=CA1539618605NIPBLc.6486A= (p.Lys2162=)
c.1-18993A= (n.1-18993A=)
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 (n.1-18993A>C)
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 (n.1-18993A>G)
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 (n.1-18993A>T)
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)
dbSNP gnomAD v2
5g.37045586G>ACA359504926NIPBLc.6487G>A (p.Gly2163Ser)
c.1-18992G>A (n.1-18992G>A)
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 (n.1-18992G>C)
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 (n.1-18992G>T)
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 (n.1-18991G>A)
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 (n.1-18991G>C)
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 (n.1-18991G>T)
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 (n.1-18990C>A)
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 (n.1-18990C>G)
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 (n.1-18990C>T)
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 (n.1-18989A>C)
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 (n.1-18989A>G)
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 (n.1-18989A>T)
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.37045589_37045590insCCTCA2534951874NIPBLc.6490_6491insCCT (p.Asn2164delinsThrTyr)
c.1-18989_1-18988insCCT (n.1-18989_1-18988insCCT)
c.5746_5747insCCT (p.Asn1916delinsThrTyr)
c.6292_6293insCCT (p.Asn2098delinsThrTyr)
c.6109_6110insCCT (p.Asn2037delinsThrTyr)
c.5830_5831insCCT (p.Asn1944delinsThrTyr)
c.4873_4874insCCT (p.Asn1625delinsThrTyr)
c.4864_4865insCCT (p.Asn1622delinsThrTyr)
5g.37045590A=CA1539618607NIPBLc.6491A= (p.Asn2164=)
c.1-18988A= (n.1-18988A=)
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 (n.1-18988A>C)
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)
dbSNP gnomAD v2
5g.37045590A>GCA359504956NIPBLc.6491A>G (p.Asn2164Ser)
c.1-18988A>G (n.1-18988A>G)
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 (n.1-18988A>T)
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 (n.1-18987C>A)
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= (n.1-18987C=)
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 (n.1-18987C>G)
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 (n.1-18987C>T)
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=)
dbSNP gnomAD v4
5g.37045592A>CCA359504989NIPBLc.6493A>C (p.Ser2165Arg)
c.1-18986A>C (n.1-18986A>C)
c.5749A>C (p.Ser1917Arg)
c.6295A>C (p.Ser2099Arg)
c.6112A>C (p.Ser2038Arg)
c.5833A>C (p.Ser1945Arg)
c.4876A>C (p.Ser1626Arg)
c.4867A>C (p.Ser1623Arg)
5g.37045592A>GCA359505004NIPBLc.6493A>G (p.Ser2165Gly)
c.1-18986A>G (n.1-18986A>G)
c.5749A>G (p.Ser1917Gly)
c.6295A>G (p.Ser2099Gly)
c.6112A>G (p.Ser2038Gly)
c.5833A>G (p.Ser1945Gly)
c.4876A>G (p.Ser1626Gly)
c.4867A>G (p.Ser1623Gly)
gnomAD v4
5g.37045592A>TCA359505011NIPBLc.6493A>T (p.Ser2165Cys)
c.1-18986A>T (n.1-18986A>T)
c.5749A>T (p.Ser1917Cys)
c.6295A>T (p.Ser2099Cys)
c.6112A>T (p.Ser2038Cys)
c.5833A>T (p.Ser1945Cys)
c.4876A>T (p.Ser1626Cys)
c.4867A>T (p.Ser1623Cys)
5g.37045593G>ACA359505016NIPBLc.6494G>A (p.Ser2165Asn)
c.1-18985G>A (n.1-18985G>A)
c.5750G>A (p.Ser1917Asn)
c.6296G>A (p.Ser2099Asn)
c.6113G>A (p.Ser2038Asn)
c.5834G>A (p.Ser1945Asn)
c.4877G>A (p.Ser1626Asn)
c.4868G>A (p.Ser1623Asn)
COSMIC COSMIC
5g.37045593G>CCA359505035NIPBLc.6494G>C (p.Ser2165Thr)
c.1-18985G>C (n.1-18985G>C)
c.5750G>C (p.Ser1917Thr)
c.6296G>C (p.Ser2099Thr)
c.6113G>C (p.Ser2038Thr)
c.5834G>C (p.Ser1945Thr)
c.4877G>C (p.Ser1626Thr)
c.4868G>C (p.Ser1623Thr)
5g.37045593G=CA1539618612NIPBLc.6494G= (p.Ser2165=)
c.1-18985G= (n.1-18985G=)
c.5750G= (p.Ser1917=)
c.6296G= (p.Ser2099=)
c.6113G= (p.Ser2038=)
c.5834G= (p.Ser1945=)
c.4877G= (p.Ser1626=)
c.4868G= (p.Ser1623=)
5g.37045593G>TCA359505048NIPBLc.6494G>T (p.Ser2165Ile)
c.1-18985G>T (n.1-18985G>T)
c.5750G>T (p.Ser1917Ile)
c.6296G>T (p.Ser2099Ile)
c.6113G>T (p.Ser2038Ile)
c.5834G>T (p.Ser1945Ile)
c.4877G>T (p.Ser1626Ile)
c.4868G>T (p.Ser1623Ile)
dbSNP gnomAD v3 gnomAD v4
5g.37045594C>ACA359505057NIPBLc.6495C>A (p.Ser2165Arg)
c.1-18984C>A (n.1-18984C>A)
c.5751C>A (p.Ser1917Arg)
c.6297C>A (p.Ser2099Arg)
c.6114C>A (p.Ser2038Arg)
c.5835C>A (p.Ser1945Arg)
c.4878C>A (p.Ser1626Arg)
c.4869C>A (p.Ser1623Arg)
5g.37045594C>GCA359505063NIPBLc.6495C>G (p.Ser2165Arg)
c.1-18984C>G (n.1-18984C>G)
c.5751C>G (p.Ser1917Arg)
c.6297C>G (p.Ser2099Arg)
c.6114C>G (p.Ser2038Arg)
c.5835C>G (p.Ser1945Arg)
c.4878C>G (p.Ser1626Arg)
c.4869C>G (p.Ser1623Arg)
5g.37045594C>TCA443907010NIPBLc.6495C>T (p.Ser2165=)
c.1-18984C>T (n.1-18984C>T)
c.5751C>T (p.Ser1917=)
c.6297C>T (p.Ser2099=)
c.6114C>T (p.Ser2038=)
c.5835C>T (p.Ser1945=)
c.4878C>T (p.Ser1626=)
c.4869C>T (p.Ser1623=)
5g.37045594_37045600delinsCAAGGTACA1539618615NIPBLc.6495_6498+3delinsCAAGGTA
c.1-18984_1-18978delinsCAAGGTA (n.1-18984_1-18978delinsCAAGGTA)
c.5751_5754+3delinsCAAGGTA
c.6297_6300+3delinsCAAGGTA
c.6114_6117+3delinsCAAGGTA
c.5835_5838+3delinsCAAGGTA
c.4878_4881+3delinsCAAGGTA
c.4869_4872+3delinsCAAGGTA
5g.37045595A>CCA359505069NIPBLc.6496A>C (p.Lys2166Gln)
c.1-18983A>C (n.1-18983A>C)
c.5752A>C (p.Lys1918Gln)
c.6298A>C (p.Lys2100Gln)
c.6115A>C (p.Lys2039Gln)
c.5836A>C (p.Lys1946Gln)
c.4879A>C (p.Lys1627Gln)
c.4870A>C (p.Lys1624Gln)
5g.37045595A>GCA359505082NIPBLc.6496A>G (p.Lys2166Glu)
c.1-18983A>G (n.1-18983A>G)
c.5752A>G (p.Lys1918Glu)
c.6298A>G (p.Lys2100Glu)
c.6115A>G (p.Lys2039Glu)
c.5836A>G (p.Lys1946Glu)
c.4879A>G (p.Lys1627Glu)
c.4870A>G (p.Lys1624Glu)
5g.37045595A>TCA359505073NIPBLc.6496A>T (p.Lys2166Ter)
c.1-18983A>T (n.1-18983A>T)
c.5752A>T (p.Lys1918Ter)
c.6298A>T (p.Lys2100Ter)
c.6115A>T (p.Lys2039Ter)
c.5836A>T (p.Lys1946Ter)
c.4879A>T (p.Lys1627Ter)
c.4870A>T (p.Lys1624Ter)
5g.37045601_37045606delCA559295286NIPBLc.6498+4_6498+9del
c.1-18977_1-18972del (n.1-18977_1-18972del)
c.5754+4_5754+9del
c.6300+4_6300+9del
c.6117+4_6117+9del
c.5838+4_5838+9del
c.4881+4_4881+9del
c.4872+4_4872+9del
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.37045596A=CA1539618622NIPBLc.6497A= (p.Lys2166=)
c.1-18982A= (n.1-18982A=)
c.5753A= (p.Lys1918=)
c.6299A= (p.Lys2100=)
c.6116A= (p.Lys2039=)
c.5837A= (p.Lys1946=)
c.4880A= (p.Lys1627=)
c.4871A= (p.Lys1624=)
5g.37045596A>CCA359505083NIPBLc.6497A>C (p.Lys2166Thr)
c.1-18982A>C (n.1-18982A>C)
c.5753A>C (p.Lys1918Thr)
c.6299A>C (p.Lys2100Thr)
c.6116A>C (p.Lys2039Thr)
c.5837A>C (p.Lys1946Thr)
c.4880A>C (p.Lys1627Thr)
c.4871A>C (p.Lys1624Thr)
5g.37045596A>GCA359505084NIPBLc.6497A>G (p.Lys2166Arg)
c.1-18982A>G (n.1-18982A>G)
c.5753A>G (p.Lys1918Arg)
c.6299A>G (p.Lys2100Arg)
c.6116A>G (p.Lys2039Arg)
c.5837A>G (p.Lys1946Arg)
c.4880A>G (p.Lys1627Arg)
c.4871A>G (p.Lys1624Arg)
gnomAD v4
5g.37045596A>TCA359505087NIPBLc.6497A>T (p.Lys2166Met)
c.1-18982A>T (n.1-18982A>T)
c.5753A>T (p.Lys1918Met)
c.6299A>T (p.Lys2100Met)
c.6116A>T (p.Lys2039Met)
c.5837A>T (p.Lys1946Met)
c.4880A>T (p.Lys1627Met)
c.4871A>T (p.Lys1624Met)
dbSNP gnomAD v3 gnomAD v4
5g.37045597G>ACA443907011NIPBLc.6498G>A (p.Lys2166=)
c.1-18981G>A (n.1-18981G>A)
c.5754G>A (p.Lys1918=)
c.6300G>A (p.Lys2100=)
c.6117G>A (p.Lys2039=)
c.5838G>A (p.Lys1946=)
c.4881G>A (p.Lys1627=)
c.4872G>A (p.Lys1624=)
5g.37045597G>CCA359505096NIPBLc.6498G>C (p.Lys2166Asn)
c.1-18981G>C (n.1-18981G>C)
c.5754G>C (p.Lys1918Asn)
c.6300G>C (p.Lys2100Asn)
c.6117G>C (p.Lys2039Asn)
c.5838G>C (p.Lys1946Asn)
c.4881G>C (p.Lys1627Asn)
c.4872G>C (p.Lys1624Asn)
5g.37045597G>TCA359505099NIPBLc.6498G>T (p.Lys2166Asn)
c.1-18981G>T (n.1-18981G>T)
c.5754G>T (p.Lys1918Asn)
c.6300G>T (p.Lys2100Asn)
c.6117G>T (p.Lys2039Asn)
c.5838G>T (p.Lys1946Asn)
c.4881G>T (p.Lys1627Asn)
c.4872G>T (p.Lys1624Asn)
gnomAD v4
5g.37045598G>ACA359505107NIPBLc.6498+1G>A (n.6498+1G>A)
c.1-18980G>A (n.1-18980G>A)
c.5754+1G>A (n.5754+1G>A)
c.6300+1G>A (n.6300+1G>A)
c.6117+1G>A (n.6117+1G>A)
c.5838+1G>A (n.5838+1G>A)
c.4881+1G>A (n.4881+1G>A)
c.4872+1G>A (n.4872+1G>A)
5g.37045598G>CCA359505113NIPBLc.6498+1G>C (n.6498+1G>C)
c.1-18980G>C (n.1-18980G>C)
c.5754+1G>C (n.5754+1G>C)
c.6300+1G>C (n.6300+1G>C)
c.6117+1G>C (n.6117+1G>C)
c.5838+1G>C (n.5838+1G>C)
c.4881+1G>C (n.4881+1G>C)
c.4872+1G>C (n.4872+1G>C)
5g.37045598G>TCA359505118NIPBLc.6498+1G>T (n.6498+1G>T)
c.1-18980G>T (n.1-18980G>T)
c.5754+1G>T (n.5754+1G>T)
c.6300+1G>T (n.6300+1G>T)
c.6117+1G>T (n.6117+1G>T)
c.5838+1G>T (n.5838+1G>T)
c.4881+1G>T (n.4881+1G>T)
c.4872+1G>T (n.4872+1G>T)

Number of alleles fetched