Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.37038653C>ACA359498159NIPBLc.6023C>A (p.Thr2008Asn)
c.1-25925C>A (n.1-25925C>A)
c.5279C>A (p.Thr1760Asn)
c.5825C>A (p.Thr1942Asn)
c.5642C>A (p.Thr1881Asn)
c.5363C>A (p.Thr1788Asn)
c.4406C>A (p.Thr1469Asn)
c.4397C>A (p.Thr1466Asn)
5g.37038653C>GCA359498161NIPBLc.6023C>G (p.Thr2008Ser)
c.1-25925C>G (n.1-25925C>G)
c.5279C>G (p.Thr1760Ser)
c.5825C>G (p.Thr1942Ser)
c.5642C>G (p.Thr1881Ser)
c.5363C>G (p.Thr1788Ser)
c.4406C>G (p.Thr1469Ser)
c.4397C>G (p.Thr1466Ser)
5g.37038653C>TCA359498167NIPBLc.6023C>T (p.Thr2008Ile)
c.1-25925C>T (n.1-25925C>T)
c.5279C>T (p.Thr1760Ile)
c.5825C>T (p.Thr1942Ile)
c.5642C>T (p.Thr1881Ile)
c.5363C>T (p.Thr1788Ile)
c.4406C>T (p.Thr1469Ile)
c.4397C>T (p.Thr1466Ile)
5g.37038654T>ACA443905811NIPBLc.6024T>A (p.Thr2008=)
c.1-25924T>A (n.1-25924T>A)
c.5280T>A (p.Thr1760=)
c.5826T>A (p.Thr1942=)
c.5643T>A (p.Thr1881=)
c.5364T>A (p.Thr1788=)
c.4407T>A (p.Thr1469=)
c.4398T>A (p.Thr1466=)
5g.37038654T>CCA443905812NIPBLc.6024T>C (p.Thr2008=)
c.1-25924T>C (n.1-25924T>C)
c.5280T>C (p.Thr1760=)
c.5826T>C (p.Thr1942=)
c.5643T>C (p.Thr1881=)
c.5364T>C (p.Thr1788=)
c.4407T>C (p.Thr1469=)
c.4398T>C (p.Thr1466=)
5g.37038654T>GCA117038341NIPBLc.6024T>G (p.Thr2008=)
c.1-25924T>G (n.1-25924T>G)
c.5280T>G (p.Thr1760=)
c.5826T>G (p.Thr1942=)
c.5643T>G (p.Thr1881=)
c.5364T>G (p.Thr1788=)
c.4407T>G (p.Thr1469=)
c.4398T>G (p.Thr1466=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.37038654T=CA1539611493NIPBLc.6024T= (p.Thr2008=)
c.1-25924T= (n.1-25924T=)
c.5280T= (p.Thr1760=)
c.5826T= (p.Thr1942=)
c.5643T= (p.Thr1881=)
c.5364T= (p.Thr1788=)
c.4407T= (p.Thr1469=)
c.4398T= (p.Thr1466=)
5g.37038655T>ACA359498170NIPBLc.6025T>A (p.Leu2009Met)
c.1-25923T>A (n.1-25923T>A)
c.5281T>A (p.Leu1761Met)
c.5827T>A (p.Leu1943Met)
c.5644T>A (p.Leu1882Met)
c.5365T>A (p.Leu1789Met)
c.4408T>A (p.Leu1470Met)
c.4399T>A (p.Leu1467Met)
5g.37038655T>CCA443905813NIPBLc.6025T>C (p.Leu2009=)
c.1-25923T>C (n.1-25923T>C)
c.5281T>C (p.Leu1761=)
c.5827T>C (p.Leu1943=)
c.5644T>C (p.Leu1882=)
c.5365T>C (p.Leu1789=)
c.4408T>C (p.Leu1470=)
c.4399T>C (p.Leu1467=)
5g.37038655T>GCA359498181NIPBLc.6025T>G (p.Leu2009Val)
c.1-25923T>G (n.1-25923T>G)
c.5281T>G (p.Leu1761Val)
c.5827T>G (p.Leu1943Val)
c.5644T>G (p.Leu1882Val)
c.5365T>G (p.Leu1789Val)
c.4408T>G (p.Leu1470Val)
c.4399T>G (p.Leu1467Val)
5g.37038656T>ACA359498183NIPBLc.6026T>A (p.Leu2009Ter)
c.1-25922T>A (n.1-25922T>A)
c.5282T>A (p.Leu1761Ter)
c.5828T>A (p.Leu1943Ter)
c.5645T>A (p.Leu1882Ter)
c.5366T>A (p.Leu1789Ter)
c.4409T>A (p.Leu1470Ter)
c.4400T>A (p.Leu1467Ter)
5g.37038656T>CCA359498184NIPBLc.6026T>C (p.Leu2009Ser)
c.1-25922T>C (n.1-25922T>C)
c.5282T>C (p.Leu1761Ser)
c.5828T>C (p.Leu1943Ser)
c.5645T>C (p.Leu1882Ser)
c.5366T>C (p.Leu1789Ser)
c.4409T>C (p.Leu1470Ser)
c.4400T>C (p.Leu1467Ser)
5g.37038656T>GCA359498186NIPBLc.6026T>G (p.Leu2009Trp)
c.1-25922T>G (n.1-25922T>G)
c.5282T>G (p.Leu1761Trp)
c.5828T>G (p.Leu1943Trp)
c.5645T>G (p.Leu1882Trp)
c.5366T>G (p.Leu1789Trp)
c.4409T>G (p.Leu1470Trp)
c.4400T>G (p.Leu1467Trp)
5g.37038657G>ACA443905814NIPBLc.6027G>A (p.Leu2009=)
c.1-25921G>A (n.1-25921G>A)
c.5283G>A (p.Leu1761=)
c.5829G>A (p.Leu1943=)
c.5646G>A (p.Leu1882=)
c.5367G>A (p.Leu1789=)
c.4410G>A (p.Leu1470=)
c.4401G>A (p.Leu1467=)
5g.37038657G>CCA359498188NIPBLc.6027G>C (p.Leu2009Phe)
c.1-25921G>C (n.1-25921G>C)
c.5283G>C (p.Leu1761Phe)
c.5829G>C (p.Leu1943Phe)
c.5646G>C (p.Leu1882Phe)
c.5367G>C (p.Leu1789Phe)
c.4410G>C (p.Leu1470Phe)
c.4401G>C (p.Leu1467Phe)
5g.37038657G>TCA359498193NIPBLc.6027G>T (p.Leu2009Phe)
c.1-25921G>T (n.1-25921G>T)
c.5283G>T (p.Leu1761Phe)
c.5829G>T (p.Leu1943Phe)
c.5646G>T (p.Leu1882Phe)
c.5367G>T (p.Leu1789Phe)
c.4410G>T (p.Leu1470Phe)
c.4401G>T (p.Leu1467Phe)
5g.37038657_37038660delCA2580073211NIPBLc.6027_6030del (p.Leu2009PhefsTer6)
c.1-25921_1-25918del (n.1-25921_1-25918del)
c.5283_5286del (p.Leu1761PhefsTer6)
c.5829_5832del (p.Leu1943PhefsTer6)
c.5646_5649del (p.Leu1882PhefsTer6)
c.5367_5370del (p.Leu1789PhefsTer6)
c.4410_4413del (p.Leu1470PhefsTer6)
c.4401_4404del (p.Leu1467PhefsTer6)
 ClinVar dbSNP
5g.37038658T>ACA359498203NIPBLc.6028T>A (p.Phe2010Ile)
c.1-25920T>A (n.1-25920T>A)
c.5284T>A (p.Phe1762Ile)
c.5830T>A (p.Phe1944Ile)
c.5647T>A (p.Phe1883Ile)
c.5368T>A (p.Phe1790Ile)
c.4411T>A (p.Phe1471Ile)
c.4402T>A (p.Phe1468Ile)
5g.37038658T>CCA359498204NIPBLc.6028T>C (p.Phe2010Leu)
c.1-25920T>C (n.1-25920T>C)
c.5284T>C (p.Phe1762Leu)
c.5830T>C (p.Phe1944Leu)
c.5647T>C (p.Phe1883Leu)
c.5368T>C (p.Phe1790Leu)
c.4411T>C (p.Phe1471Leu)
c.4402T>C (p.Phe1468Leu)
5g.37038658T>GCA359498208NIPBLc.6028T>G (p.Phe2010Val)
c.1-25920T>G (n.1-25920T>G)
c.5284T>G (p.Phe1762Val)
c.5830T>G (p.Phe1944Val)
c.5647T>G (p.Phe1883Val)
c.5368T>G (p.Phe1790Val)
c.4411T>G (p.Phe1471Val)
c.4402T>G (p.Phe1468Val)
5g.37038659T>ACA359498211NIPBLc.6029T>A (p.Phe2010Tyr)
c.1-25919T>A (n.1-25919T>A)
c.5285T>A (p.Phe1762Tyr)
c.5831T>A (p.Phe1944Tyr)
c.5648T>A (p.Phe1883Tyr)
c.5369T>A (p.Phe1790Tyr)
c.4412T>A (p.Phe1471Tyr)
c.4403T>A (p.Phe1468Tyr)
5g.37038659T>CCA359498215NIPBLc.6029T>C (p.Phe2010Ser)
c.1-25919T>C (n.1-25919T>C)
c.5285T>C (p.Phe1762Ser)
c.5831T>C (p.Phe1944Ser)
c.5648T>C (p.Phe1883Ser)
c.5369T>C (p.Phe1790Ser)
c.4412T>C (p.Phe1471Ser)
c.4403T>C (p.Phe1468Ser)
5g.37038659T>GCA359498222NIPBLc.6029T>G (p.Phe2010Cys)
c.1-25919T>G (n.1-25919T>G)
c.5285T>G (p.Phe1762Cys)
c.5831T>G (p.Phe1944Cys)
c.5648T>G (p.Phe1883Cys)
c.5369T>G (p.Phe1790Cys)
c.4412T>G (p.Phe1471Cys)
c.4403T>G (p.Phe1468Cys)
5g.37038660C>ACA359498223NIPBLc.6030C>A (p.Phe2010Leu)
c.1-25918C>A (n.1-25918C>A)
c.5286C>A (p.Phe1762Leu)
c.5832C>A (p.Phe1944Leu)
c.5649C>A (p.Phe1883Leu)
c.5370C>A (p.Phe1790Leu)
c.4413C>A (p.Phe1471Leu)
c.4404C>A (p.Phe1468Leu)
5g.37038660C>GCA359498226NIPBLc.6030C>G (p.Phe2010Leu)
c.1-25918C>G (n.1-25918C>G)
c.5286C>G (p.Phe1762Leu)
c.5832C>G (p.Phe1944Leu)
c.5649C>G (p.Phe1883Leu)
c.5370C>G (p.Phe1790Leu)
c.4413C>G (p.Phe1471Leu)
c.4404C>G (p.Phe1468Leu)
5g.37038660C>TCA443905815NIPBLc.6030C>T (p.Phe2010=)
c.1-25918C>T (n.1-25918C>T)
c.5286C>T (p.Phe1762=)
c.5832C>T (p.Phe1944=)
c.5649C>T (p.Phe1883=)
c.5370C>T (p.Phe1790=)
c.4413C>T (p.Phe1471=)
c.4404C>T (p.Phe1468=)
5g.37038661T>ACA359498228NIPBLc.6031T>A (p.Leu2011Ile)
c.1-25917T>A (n.1-25917T>A)
c.5287T>A (p.Leu1763Ile)
c.5833T>A (p.Leu1945Ile)
c.5650T>A (p.Leu1884Ile)
c.5371T>A (p.Leu1791Ile)
c.4414T>A (p.Leu1472Ile)
c.4405T>A (p.Leu1469Ile)
5g.37038661T>CCA443905816NIPBLc.6031T>C (p.Leu2011=)
c.1-25917T>C (n.1-25917T>C)
c.5287T>C (p.Leu1763=)
c.5833T>C (p.Leu1945=)
c.5650T>C (p.Leu1884=)
c.5371T>C (p.Leu1791=)
c.4414T>C (p.Leu1472=)
c.4405T>C (p.Leu1469=)
 gnomAD v4
5g.37038661T>GCA359498227NIPBLc.6031T>G (p.Leu2011Val)
c.1-25917T>G (n.1-25917T>G)
c.5287T>G (p.Leu1763Val)
c.5833T>G (p.Leu1945Val)
c.5650T>G (p.Leu1884Val)
c.5371T>G (p.Leu1791Val)
c.4414T>G (p.Leu1472Val)
c.4405T>G (p.Leu1469Val)
5g.37038662T>ACA359498229NIPBLc.6032T>A (p.Leu2011Ter)
c.1-25916T>A (n.1-25916T>A)
c.5288T>A (p.Leu1763Ter)
c.5834T>A (p.Leu1945Ter)
c.5651T>A (p.Leu1884Ter)
c.5372T>A (p.Leu1791Ter)
c.4415T>A (p.Leu1472Ter)
c.4406T>A (p.Leu1469Ter)
5g.37038662T>CCA359498231NIPBLc.6032T>C (p.Leu2011Ser)
c.1-25916T>C (n.1-25916T>C)
c.5288T>C (p.Leu1763Ser)
c.5834T>C (p.Leu1945Ser)
c.5651T>C (p.Leu1884Ser)
c.5372T>C (p.Leu1791Ser)
c.4415T>C (p.Leu1472Ser)
c.4406T>C (p.Leu1469Ser)
5g.37038662T>GCA359498233NIPBLc.6032T>G (p.Leu2011Ter)
c.1-25916T>G (n.1-25916T>G)
c.5288T>G (p.Leu1763Ter)
c.5834T>G (p.Leu1945Ter)
c.5651T>G (p.Leu1884Ter)
c.5372T>G (p.Leu1791Ter)
c.4415T>G (p.Leu1472Ter)
c.4406T>G (p.Leu1469Ter)
5g.37038663A=CA1539611496NIPBLc.6033A= (p.Leu2011=)
c.1-25915A= (n.1-25915A=)
c.5289A= (p.Leu1763=)
c.5835A= (p.Leu1945=)
c.5652A= (p.Leu1884=)
c.5373A= (p.Leu1791=)
c.4416A= (p.Leu1472=)
c.4407A= (p.Leu1469=)
5g.37038663A>CCA359498236NIPBLc.6033A>C (p.Leu2011Phe)
c.1-25915A>C (n.1-25915A>C)
c.5289A>C (p.Leu1763Phe)
c.5835A>C (p.Leu1945Phe)
c.5652A>C (p.Leu1884Phe)
c.5373A>C (p.Leu1791Phe)
c.4416A>C (p.Leu1472Phe)
c.4407A>C (p.Leu1469Phe)
5g.37038663A>GCA443905817NIPBLc.6033A>G (p.Leu2011=)
c.1-25915A>G (n.1-25915A>G)
c.5289A>G (p.Leu1763=)
c.5835A>G (p.Leu1945=)
c.5652A>G (p.Leu1884=)
c.5373A>G (p.Leu1791=)
c.4416A>G (p.Leu1472=)
c.4407A>G (p.Leu1469=)
5g.37038663A>TCA359498241NIPBLc.6033A>T (p.Leu2011Phe)
c.1-25915A>T (n.1-25915A>T)
c.5289A>T (p.Leu1763Phe)
c.5835A>T (p.Leu1945Phe)
c.5652A>T (p.Leu1884Phe)
c.5373A>T (p.Leu1791Phe)
c.4416A>T (p.Leu1472Phe)
c.4407A>T (p.Leu1469Phe)
 ClinVar dbSNP
5g.37038664T>ACA359498244NIPBLc.6034T>A (p.Phe2012Ile)
c.1-25914T>A (n.1-25914T>A)
c.5290T>A (p.Phe1764Ile)
c.5836T>A (p.Phe1946Ile)
c.5653T>A (p.Phe1885Ile)
c.5374T>A (p.Phe1792Ile)
c.4417T>A (p.Phe1473Ile)
c.4408T>A (p.Phe1470Ile)
5g.37038664T>CCA359498246NIPBLc.6034T>C (p.Phe2012Leu)
c.1-25914T>C (n.1-25914T>C)
c.5290T>C (p.Phe1764Leu)
c.5836T>C (p.Phe1946Leu)
c.5653T>C (p.Phe1885Leu)
c.5374T>C (p.Phe1792Leu)
c.4417T>C (p.Phe1473Leu)
c.4408T>C (p.Phe1470Leu)
5g.37038664T>GCA359498249NIPBLc.6034T>G (p.Phe2012Val)
c.1-25914T>G (n.1-25914T>G)
c.5290T>G (p.Phe1764Val)
c.5836T>G (p.Phe1946Val)
c.5653T>G (p.Phe1885Val)
c.5374T>G (p.Phe1792Val)
c.4417T>G (p.Phe1473Val)
c.4408T>G (p.Phe1470Val)
5g.37038665T>ACA359498253NIPBLc.6035T>A (p.Phe2012Tyr)
c.1-25913T>A (n.1-25913T>A)
c.5291T>A (p.Phe1764Tyr)
c.5837T>A (p.Phe1946Tyr)
c.5654T>A (p.Phe1885Tyr)
c.5375T>A (p.Phe1792Tyr)
c.4418T>A (p.Phe1473Tyr)
c.4409T>A (p.Phe1470Tyr)
5g.37038665T>CCA359498256NIPBLc.6035T>C (p.Phe2012Ser)
c.1-25913T>C (n.1-25913T>C)
c.5291T>C (p.Phe1764Ser)
c.5837T>C (p.Phe1946Ser)
c.5654T>C (p.Phe1885Ser)
c.5375T>C (p.Phe1792Ser)
c.4418T>C (p.Phe1473Ser)
c.4409T>C (p.Phe1470Ser)
 COSMIC COSMIC
5g.37038665T>GCA359498261NIPBLc.6035T>G (p.Phe2012Cys)
c.1-25913T>G (n.1-25913T>G)
c.5291T>G (p.Phe1764Cys)
c.5837T>G (p.Phe1946Cys)
c.5654T>G (p.Phe1885Cys)
c.5375T>G (p.Phe1792Cys)
c.4418T>G (p.Phe1473Cys)
c.4409T>G (p.Phe1470Cys)
5g.37038666C>ACA359498266NIPBLc.6036C>A (p.Phe2012Leu)
c.1-25912C>A (n.1-25912C>A)
c.5292C>A (p.Phe1764Leu)
c.5838C>A (p.Phe1946Leu)
c.5655C>A (p.Phe1885Leu)
c.5376C>A (p.Phe1792Leu)
c.4419C>A (p.Phe1473Leu)
c.4410C>A (p.Phe1470Leu)
5g.37038666C>GCA359498267NIPBLc.6036C>G (p.Phe2012Leu)
c.1-25912C>G (n.1-25912C>G)
c.5292C>G (p.Phe1764Leu)
c.5838C>G (p.Phe1946Leu)
c.5655C>G (p.Phe1885Leu)
c.5376C>G (p.Phe1792Leu)
c.4419C>G (p.Phe1473Leu)
c.4410C>G (p.Phe1470Leu)
5g.37038666C>TCA443905818NIPBLc.6036C>T (p.Phe2012=)
c.1-25912C>T (n.1-25912C>T)
c.5292C>T (p.Phe1764=)
c.5838C>T (p.Phe1946=)
c.5655C>T (p.Phe1885=)
c.5376C>T (p.Phe1792=)
c.4419C>T (p.Phe1473=)
c.4410C>T (p.Phe1470=)
5g.37038667A=CA1539611498NIPBLc.6037A= (p.Ser2013=)
c.1-25911A= (n.1-25911A=)
c.5293A= (p.Ser1765=)
c.5839A= (p.Ser1947=)
c.5656A= (p.Ser1886=)
c.5377A= (p.Ser1793=)
c.4420A= (p.Ser1474=)
c.4411A= (p.Ser1471=)
5g.37038667A>CCA272183NIPBLc.6037A>C (p.Ser2013Arg)
c.1-25911A>C (n.1-25911A>C)
c.5293A>C (p.Ser1765Arg)
c.5839A>C (p.Ser1947Arg)
c.5656A>C (p.Ser1886Arg)
c.5377A>C (p.Ser1793Arg)
c.4420A>C (p.Ser1474Arg)
c.4411A>C (p.Ser1471Arg)
 ClinVar dbSNP
5g.37038667A>GCA359498269NIPBLc.6037A>G (p.Ser2013Gly)
c.1-25911A>G (n.1-25911A>G)
c.5293A>G (p.Ser1765Gly)
c.5839A>G (p.Ser1947Gly)
c.5656A>G (p.Ser1886Gly)
c.5377A>G (p.Ser1793Gly)
c.4420A>G (p.Ser1474Gly)
c.4411A>G (p.Ser1471Gly)
5g.37038667A>TCA359498268NIPBLc.6037A>T (p.Ser2013Cys)
c.1-25911A>T (n.1-25911A>T)
c.5293A>T (p.Ser1765Cys)
c.5839A>T (p.Ser1947Cys)
c.5656A>T (p.Ser1886Cys)
c.5377A>T (p.Ser1793Cys)
c.4420A>T (p.Ser1474Cys)
c.4411A>T (p.Ser1471Cys)
5g.37038668G>ACA359498276NIPBLc.6038G>A (p.Ser2013Asn)
c.1-25910G>A (n.1-25910G>A)
c.5294G>A (p.Ser1765Asn)
c.5840G>A (p.Ser1947Asn)
c.5657G>A (p.Ser1886Asn)
c.5378G>A (p.Ser1793Asn)
c.4421G>A (p.Ser1474Asn)
c.4412G>A (p.Ser1471Asn)
 ClinVar dbSNP

Number of alleles fetched