Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.37038647_37038648dupCA2697547124NIPBLc.6017_6018dup (p.Thr2007Ter)
c.1-25931_1-25930dup (n.1-25931_1-25930dup)
c.5273_5274dup (p.Thr1759Ter)
c.5819_5820dup (p.Thr1941Ter)
c.5636_5637dup (p.Thr1880Ter)
c.5357_5358dup (p.Thr1787Ter)
c.4400_4401dup (p.Thr1468Ter)
c.4391_4392dup (p.Thr1465Ter)
 ClinVar
5g.37038648A>CCA443905806NIPBLc.6018A>C (p.Ile2006=)
c.1-25930A>C (n.1-25930A>C)
c.5274A>C (p.Ile1758=)
c.5820A>C (p.Ile1940=)
c.5637A>C (p.Ile1879=)
c.5358A>C (p.Ile1786=)
c.4401A>C (p.Ile1467=)
c.4392A>C (p.Ile1464=)
5g.37038648A>GCA359498099NIPBLc.6018A>G (p.Ile2006Met)
c.1-25930A>G (n.1-25930A>G)
c.5274A>G (p.Ile1758Met)
c.5820A>G (p.Ile1940Met)
c.5637A>G (p.Ile1879Met)
c.5358A>G (p.Ile1786Met)
c.4401A>G (p.Ile1467Met)
c.4392A>G (p.Ile1464Met)
5g.37038648A>TCA443905807NIPBLc.6018A>T (p.Ile2006=)
c.1-25930A>T (n.1-25930A>T)
c.5274A>T (p.Ile1758=)
c.5820A>T (p.Ile1940=)
c.5637A>T (p.Ile1879=)
c.5358A>T (p.Ile1786=)
c.4401A>T (p.Ile1467=)
c.4392A>T (p.Ile1464=)
5g.37038649A>CCA359498105NIPBLc.6019A>C (p.Thr2007Pro)
c.1-25929A>C (n.1-25929A>C)
c.5275A>C (p.Thr1759Pro)
c.5821A>C (p.Thr1941Pro)
c.5638A>C (p.Thr1880Pro)
c.5359A>C (p.Thr1787Pro)
c.4402A>C (p.Thr1468Pro)
c.4393A>C (p.Thr1465Pro)
5g.37038649A>GCA359498108NIPBLc.6019A>G (p.Thr2007Ala)
c.1-25929A>G (n.1-25929A>G)
c.5275A>G (p.Thr1759Ala)
c.5821A>G (p.Thr1941Ala)
c.5638A>G (p.Thr1880Ala)
c.5359A>G (p.Thr1787Ala)
c.4402A>G (p.Thr1468Ala)
c.4393A>G (p.Thr1465Ala)
5g.37038649A>TCA359498113NIPBLc.6019A>T (p.Thr2007Ser)
c.1-25929A>T (n.1-25929A>T)
c.5275A>T (p.Thr1759Ser)
c.5821A>T (p.Thr1941Ser)
c.5638A>T (p.Thr1880Ser)
c.5359A>T (p.Thr1787Ser)
c.4402A>T (p.Thr1468Ser)
c.4393A>T (p.Thr1465Ser)
5g.37038650C>ACA359498116NIPBLc.6020C>A (p.Thr2007Asn)
c.1-25928C>A (n.1-25928C>A)
c.5276C>A (p.Thr1759Asn)
c.5822C>A (p.Thr1941Asn)
c.5639C>A (p.Thr1880Asn)
c.5360C>A (p.Thr1787Asn)
c.4403C>A (p.Thr1468Asn)
c.4394C>A (p.Thr1465Asn)
5g.37038650C>GCA359498120NIPBLc.6020C>G (p.Thr2007Ser)
c.1-25928C>G (n.1-25928C>G)
c.5276C>G (p.Thr1759Ser)
c.5822C>G (p.Thr1941Ser)
c.5639C>G (p.Thr1880Ser)
c.5360C>G (p.Thr1787Ser)
c.4403C>G (p.Thr1468Ser)
c.4394C>G (p.Thr1465Ser)
5g.37038650C>TCA359498133NIPBLc.6020C>T (p.Thr2007Ile)
c.1-25928C>T (n.1-25928C>T)
c.5276C>T (p.Thr1759Ile)
c.5822C>T (p.Thr1941Ile)
c.5639C>T (p.Thr1880Ile)
c.5360C>T (p.Thr1787Ile)
c.4403C>T (p.Thr1468Ile)
c.4394C>T (p.Thr1465Ile)
5g.37038651C>ACA443905809NIPBLc.6021C>A (p.Thr2007=)
c.1-25927C>A (n.1-25927C>A)
c.5277C>A (p.Thr1759=)
c.5823C>A (p.Thr1941=)
c.5640C>A (p.Thr1880=)
c.5361C>A (p.Thr1787=)
c.4404C>A (p.Thr1468=)
c.4395C>A (p.Thr1465=)
5g.37038651C>GCA443905810NIPBLc.6021C>G (p.Thr2007=)
c.1-25927C>G (n.1-25927C>G)
c.5277C>G (p.Thr1759=)
c.5823C>G (p.Thr1941=)
c.5640C>G (p.Thr1880=)
c.5361C>G (p.Thr1787=)
c.4404C>G (p.Thr1468=)
c.4395C>G (p.Thr1465=)
5g.37038651C>TCA443905808NIPBLc.6021C>T (p.Thr2007=)
c.1-25927C>T (n.1-25927C>T)
c.5277C>T (p.Thr1759=)
c.5823C>T (p.Thr1941=)
c.5640C>T (p.Thr1880=)
c.5361C>T (p.Thr1787=)
c.4404C>T (p.Thr1468=)
c.4395C>T (p.Thr1465=)
5g.37038652A=CA1539611490NIPBLc.6022A= (p.Thr2008=)
c.1-25926A= (n.1-25926A=)
c.5278A= (p.Thr1760=)
c.5824A= (p.Thr1942=)
c.5641A= (p.Thr1881=)
c.5362A= (p.Thr1788=)
c.4405A= (p.Thr1469=)
c.4396A= (p.Thr1466=)
5g.37038652A>CCA359498137NIPBLc.6022A>C (p.Thr2008Pro)
c.1-25926A>C (n.1-25926A>C)
c.5278A>C (p.Thr1760Pro)
c.5824A>C (p.Thr1942Pro)
c.5641A>C (p.Thr1881Pro)
c.5362A>C (p.Thr1788Pro)
c.4405A>C (p.Thr1469Pro)
c.4396A>C (p.Thr1466Pro)
5g.37038652A>GCA359498140NIPBLc.6022A>G (p.Thr2008Ala)
c.1-25926A>G (n.1-25926A>G)
c.5278A>G (p.Thr1760Ala)
c.5824A>G (p.Thr1942Ala)
c.5641A>G (p.Thr1881Ala)
c.5362A>G (p.Thr1788Ala)
c.4405A>G (p.Thr1469Ala)
c.4396A>G (p.Thr1466Ala)
 dbSNP gnomAD v2 gnomAD v4
5g.37038652A>TCA359498153NIPBLc.6022A>T (p.Thr2008Ser)
c.1-25926A>T (n.1-25926A>T)
c.5278A>T (p.Thr1760Ser)
c.5824A>T (p.Thr1942Ser)
c.5641A>T (p.Thr1881Ser)
c.5362A>T (p.Thr1788Ser)
c.4405A>T (p.Thr1469Ser)
c.4396A>T (p.Thr1466Ser)
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=)

Number of alleles fetched