Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.4955045C>TCA2576136626ENO3c.445-30C>T (n.445-30C>T)
c.316-30C>T (n.316-30C>T)
c.*391-30C>T (n.*391-30C>T)
c.472-30C>T (n.472-30C>T)
17g.4955046C>GCA2635584403ENO3c.445-29C>G (n.445-29C>G)
c.316-29C>G (n.316-29C>G)
c.*391-29C>G (n.*391-29C>G)
c.472-29C>G (n.472-29C>G)
 gnomAD v4
17g.4955047A=CA2244628022ENO3c.445-28A= (n.445-28A=)
c.316-28A= (n.316-28A=)
c.*391-28A= (n.*391-28A=)
c.472-28A= (n.472-28A=)
17g.4955047A>GCA8316321ENO3c.445-28A>G (n.445-28A>G)
c.316-28A>G (n.316-28A>G)
c.*391-28A>G (n.*391-28A>G)
c.472-28A>G (n.472-28A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.4955049G>TCA2808297890ENO3c.445-26G>T (n.445-26G>T)
c.316-26G>T (n.316-26G>T)
c.*391-26G>T (n.*391-26G>T)
c.472-26G>T (n.472-26G>T)
17g.4955050T>ACA2635584406ENO3c.445-25T>A (n.445-25T>A)
c.316-25T>A (n.316-25T>A)
c.*391-25T>A (n.*391-25T>A)
c.472-25T>A (n.472-25T>A)
 gnomAD v4
17g.4955050T>CCA2635584407ENO3c.445-25T>C (n.445-25T>C)
c.316-25T>C (n.316-25T>C)
c.*391-25T>C (n.*391-25T>C)
c.472-25T>C (n.472-25T>C)
 gnomAD v4
17g.4955051C>TCA2635584409ENO3c.445-24C>T (n.445-24C>T)
c.316-24C>T (n.316-24C>T)
c.*391-24C>T (n.*391-24C>T)
c.472-24C>T (n.472-24C>T)
 gnomAD v4
17g.4955052C>TCA2635584411ENO3c.445-23C>T (n.445-23C>T)
c.316-23C>T (n.316-23C>T)
c.*391-23C>T (n.*391-23C>T)
c.472-23C>T (n.472-23C>T)
 gnomAD v4
17g.4955054G>TCA2635584412ENO3c.445-21G>T (n.445-21G>T)
c.316-21G>T (n.316-21G>T)
c.*391-21G>T (n.*391-21G>T)
c.472-21G>T (n.472-21G>T)
 gnomAD v4
17g.4955056C>ACA2576136627ENO3c.445-19C>A (n.445-19C>A)
c.316-19C>A (n.316-19C>A)
c.*391-19C>A (n.*391-19C>A)
c.472-19C>A (n.472-19C>A)
17g.4955056C=CA2244628024ENO3c.445-19C= (n.445-19C=)
c.316-19C= (n.316-19C=)
c.*391-19C= (n.*391-19C=)
c.472-19C= (n.472-19C=)
17g.4955056C>TCA624856672ENO3c.445-19C>T (n.445-19C>T)
c.316-19C>T (n.316-19C>T)
c.*391-19C>T (n.*391-19C>T)
c.472-19C>T (n.472-19C>T)
 dbSNP gnomAD v2
17g.4955057A>CCA2635584413ENO3c.445-18A>C (n.445-18A>C)
c.316-18A>C (n.316-18A>C)
c.*391-18A>C (n.*391-18A>C)
c.472-18A>C (n.472-18A>C)
 gnomAD v4
17g.4955057A>GCA2576136628ENO3c.445-18A>G (n.445-18A>G)
c.316-18A>G (n.316-18A>G)
c.*391-18A>G (n.*391-18A>G)
c.472-18A>G (n.472-18A>G)
17g.4955057dupCA2697554348ENO3c.445-18dup (n.445-18dup)
c.316-18dup (n.316-18dup)
c.*391-18dup (n.*391-18dup)
c.472-18dup (n.472-18dup)
 ClinVar
17g.4955059C>TCA2576136629ENO3c.445-16C>T (n.445-16C>T)
c.316-16C>T (n.316-16C>T)
c.*391-16C>T (n.*391-16C>T)
c.472-16C>T (n.472-16C>T)
17g.4955060C>ACA624856673ENO3c.445-15C>A (n.445-15C>A)
c.316-15C>A (n.316-15C>A)
c.*391-15C>A (n.*391-15C>A)
c.472-15C>A (n.472-15C>A)
 dbSNP gnomAD v2 gnomAD v4
17g.4955060C=CA2244628027ENO3c.445-15C= (n.445-15C=)
c.316-15C= (n.316-15C=)
c.*391-15C= (n.*391-15C=)
c.472-15C= (n.472-15C=)
17g.4955060C>GCA2244628029ENO3c.445-15C>G (n.445-15C>G)
c.316-15C>G (n.316-15C>G)
c.*391-15C>G (n.*391-15C>G)
c.472-15C>G (n.472-15C>G)
 dbSNP
17g.4955060C>TCA2635584415ENO3c.445-15C>T (n.445-15C>T)
c.316-15C>T (n.316-15C>T)
c.*391-15C>T (n.*391-15C>T)
c.472-15C>T (n.472-15C>T)
 ClinVar gnomAD v4
17g.4955061T>ACA2635584420ENO3c.445-14T>A (n.445-14T>A)
c.316-14T>A (n.316-14T>A)
c.*391-14T>A (n.*391-14T>A)
c.472-14T>A (n.472-14T>A)
 gnomAD v4
17g.4955061T>CCA2635584418ENO3c.445-14T>C (n.445-14T>C)
c.316-14T>C (n.316-14T>C)
c.*391-14T>C (n.*391-14T>C)
c.472-14T>C (n.472-14T>C)
 gnomAD v4
17g.4955062C=CA2244628031ENO3c.445-13C= (n.445-13C=)
c.316-13C= (n.316-13C=)
c.*391-13C= (n.*391-13C=)
c.472-13C= (n.472-13C=)
17g.4955062C>TCA8316322ENO3c.445-13C>T (n.445-13C>T)
c.316-13C>T (n.316-13C>T)
c.*391-13C>T (n.*391-13C>T)
c.472-13C>T (n.472-13C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.4955063dupCA2635584421ENO3c.445-12dup (n.445-12dup)
c.316-12dup (n.316-12dup)
c.*391-12dup (n.*391-12dup)
c.472-12dup (n.472-12dup)
 gnomAD v4
17g.4955064C>TCA2576136630ENO3c.445-11C>T (n.445-11C>T)
c.316-11C>T (n.316-11C>T)
c.*391-11C>T (n.*391-11C>T)
c.472-11C>T (n.472-11C>T)
 ClinVar
17g.4955066C=CA2244628033ENO3c.445-9C= (n.445-9C=)
c.316-9C= (n.316-9C=)
c.*391-9C= (n.*391-9C=)
c.472-9C= (n.472-9C=)
17g.4955066C>GCA772695081ENO3c.445-9C>G (n.445-9C>G)
c.316-9C>G (n.316-9C>G)
c.*391-9C>G (n.*391-9C>G)
c.472-9C>G (n.472-9C>G)
 dbSNP gnomAD v3 gnomAD v4
17g.4955067C=CA2244628034ENO3c.445-8C= (n.445-8C=)
c.316-8C= (n.316-8C=)
c.*391-8C= (n.*391-8C=)
c.472-8C= (n.472-8C=)
17g.4955067C>GCA624856674ENO3c.445-8C>G (n.445-8C>G)
c.316-8C>G (n.316-8C>G)
c.*391-8C>G (n.*391-8C>G)
c.472-8C>G (n.472-8C>G)
 dbSNP gnomAD v2
17g.4955067C>TCA2576136631ENO3c.445-8C>T (n.445-8C>T)
c.316-8C>T (n.316-8C>T)
c.*391-8C>T (n.*391-8C>T)
c.472-8C>T (n.472-8C>T)
17g.4955068A=CA2244628037ENO3c.445-7A= (n.445-7A=)
c.316-7A= (n.316-7A=)
c.*391-7A= (n.*391-7A=)
c.472-7A= (n.472-7A=)
17g.4955068A>CCA2808297891ENO3c.445-7A>C (n.445-7A>C)
c.316-7A>C (n.316-7A>C)
c.*391-7A>C (n.*391-7A>C)
c.472-7A>C (n.472-7A>C)
17g.4955068A>GCA287175791ENO3c.445-7A>G (n.445-7A>G)
c.316-7A>G (n.316-7A>G)
c.*391-7A>G (n.*391-7A>G)
c.472-7A>G (n.472-7A>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.4955068A>TCA2576136632ENO3c.445-7A>T (n.445-7A>T)
c.316-7A>T (n.316-7A>T)
c.*391-7A>T (n.*391-7A>T)
c.472-7A>T (n.472-7A>T)
17g.4955069T>ACA2635584424ENO3c.445-6T>A (n.445-6T>A)
c.316-6T>A (n.316-6T>A)
c.*391-6T>A (n.*391-6T>A)
c.472-6T>A (n.472-6T>A)
 gnomAD v4
17g.4955072C=CA2244628039ENO3c.445-3C= (n.445-3C=)
c.316-3C= (n.316-3C=)
c.*391-3C= (n.*391-3C=)
c.472-3C= (n.472-3C=)
17g.4955072C>GCA2635584425ENO3c.445-3C>G (n.445-3C>G)
c.316-3C>G (n.316-3C>G)
c.*391-3C>G (n.*391-3C>G)
c.472-3C>G (n.472-3C>G)
 gnomAD v4
17g.4955072C>TCA624856675ENO3c.445-3C>T (n.445-3C>T)
c.316-3C>T (n.316-3C>T)
c.*391-3C>T (n.*391-3C>T)
c.472-3C>T (n.472-3C>T)
 dbSNP gnomAD v2
17g.4955073A=CA2244628041ENO3c.445-2A= (n.445-2A=)
c.316-2A= (n.316-2A=)
c.*391-2A= (n.*391-2A=)
c.472-2A= (n.472-2A=)
17g.4955073A>CCA397289664ENO3c.445-2A>C (n.445-2A>C)
c.316-2A>C (n.316-2A>C)
c.*391-2A>C (n.*391-2A>C)
c.472-2A>C (n.472-2A>C)
17g.4955073A>GCA397289662ENO3c.445-2A>G (n.445-2A>G)
c.316-2A>G (n.316-2A>G)
c.*391-2A>G (n.*391-2A>G)
c.472-2A>G (n.472-2A>G)
 dbSNP
17g.4955073A>TCA397289660ENO3c.445-2A>T (n.445-2A>T)
c.316-2A>T (n.316-2A>T)
c.*391-2A>T (n.*391-2A>T)
c.472-2A>T (n.472-2A>T)
17g.4955074G>ACA397289668ENO3c.445-1G>A (n.445-1G>A)
c.316-1G>A (n.316-1G>A)
c.*391-1G>A (n.*391-1G>A)
c.472-1G>A (n.472-1G>A)
17g.4955074G>CCA397289669ENO3c.445-1G>C (n.445-1G>C)
c.316-1G>C (n.316-1G>C)
c.*391-1G>C (n.*391-1G>C)
c.472-1G>C (n.472-1G>C)
17g.4955074G>TCA397289670ENO3c.445-1G>T (n.445-1G>T)
c.316-1G>T (n.316-1G>T)
c.*391-1G>T (n.*391-1G>T)
c.472-1G>T (n.472-1G>T)
17g.4955075G>ACA397289672ENO3c.445G>A (p.Ala149Thr)
c.316G>A (p.Ala106Thr)
c.*391G>A (n.*391G>A)
c.472G>A (p.Ala158Thr)
17g.4955075G>CCA397289674ENO3c.445G>C (p.Ala149Pro)
c.316G>C (p.Ala106Pro)
c.*391G>C (n.*391G>C)
c.472G>C (p.Ala158Pro)
17g.4955075G>TCA397289675ENO3c.445G>T (p.Ala149Ser)
c.316G>T (p.Ala106Ser)
c.*391G>T (n.*391G>T)
c.472G>T (p.Ala158Ser)
 gnomAD v4
17g.4955076C>ACA397289678ENO3c.446C>A (p.Ala149Asp)
c.317C>A (p.Ala106Asp)
c.*392C>A (n.*392C>A)
c.473C>A (p.Ala158Asp)
17g.4955076C>GCA397289682ENO3c.446C>G (p.Ala149Gly)
c.317C>G (p.Ala106Gly)
c.*392C>G (n.*392C>G)
c.473C>G (p.Ala158Gly)
17g.4955076C>TCA397289680ENO3c.446C>T (p.Ala149Val)
c.317C>T (p.Ala106Val)
c.*392C>T (n.*392C>T)
c.473C>T (p.Ala158Val)
17g.4955077C>ACA497679258ENO3c.447C>A (p.Ala149=)
c.318C>A (p.Ala106=)
c.*393C>A (n.*393C>A)
c.474C>A (p.Ala158=)
17g.4955077C=CA2244628043ENO3c.447C= (p.Ala149=)
c.318C= (p.Ala106=)
c.*393C= (n.*393C=)
c.474C= (p.Ala158=)
17g.4955077C>GCA497679257ENO3c.447C>G (p.Ala149=)
c.318C>G (p.Ala106=)
c.*393C>G (n.*393C>G)
c.474C>G (p.Ala158=)
 dbSNP gnomAD v4
17g.4955077C>TCA497679256ENO3c.447C>T (p.Ala149=)
c.318C>T (p.Ala106=)
c.*393C>T (n.*393C>T)
c.474C>T (p.Ala158=)
17g.4955078T>ACA397289685ENO3c.448T>A (p.Phe150Ile)
c.319T>A (p.Phe107Ile)
c.*394T>A (n.*394T>A)
c.475T>A (p.Phe159Ile)
17g.4955078T>CCA397289686ENO3c.448T>C (p.Phe150Leu)
c.319T>C (p.Phe107Leu)
c.*394T>C (n.*394T>C)
c.475T>C (p.Phe159Leu)
17g.4955078T>GCA397289689ENO3c.448T>G (p.Phe150Val)
c.319T>G (p.Phe107Val)
c.*394T>G (n.*394T>G)
c.475T>G (p.Phe159Val)
17g.4955079T>ACA397289691ENO3c.449T>A (p.Phe150Tyr)
c.320T>A (p.Phe107Tyr)
c.*395T>A (n.*395T>A)
c.476T>A (p.Phe159Tyr)
17g.4955079T>CCA397289692ENO3c.449T>C (p.Phe150Ser)
c.320T>C (p.Phe107Ser)
c.*395T>C (n.*395T>C)
c.476T>C (p.Phe159Ser)
17g.4955079T>GCA397289694ENO3c.449T>G (p.Phe150Cys)
c.320T>G (p.Phe107Cys)
c.*395T>G (n.*395T>G)
c.476T>G (p.Phe159Cys)
17g.4955080C>ACA397289696ENO3c.450C>A (p.Phe150Leu)
c.321C>A (p.Phe107Leu)
c.*396C>A (n.*396C>A)
c.477C>A (p.Phe159Leu)
17g.4955080C>GCA397289698ENO3c.450C>G (p.Phe150Leu)
c.321C>G (p.Phe107Leu)
c.*396C>G (n.*396C>G)
c.477C>G (p.Phe159Leu)
17g.4955080C>TCA497679262ENO3c.450C>T (p.Phe150=)
c.321C>T (p.Phe107=)
c.*396C>T (n.*396C>T)
c.477C>T (p.Phe159=)
17g.4955081A>CCA397289701ENO3c.451A>C (p.Asn151His)
c.322A>C (p.Asn108His)
c.*397A>C (n.*397A>C)
c.478A>C (p.Asn160His)
 gnomAD v4
17g.4955081A>GCA397289702ENO3c.451A>G (p.Asn151Asp)
c.322A>G (p.Asn108Asp)
c.*397A>G (n.*397A>G)
c.478A>G (p.Asn160Asp)
 ClinVar
17g.4955081A>TCA397289705ENO3c.451A>T (p.Asn151Tyr)
c.322A>T (p.Asn108Tyr)
c.*397A>T (n.*397A>T)
c.478A>T (p.Asn160Tyr)
17g.4955082A=CA2244628048ENO3c.452A= (p.Asn151=)
c.323A= (p.Asn108=)
c.*398A= (n.*398A=)
c.479A= (p.Asn160=)
17g.4955082A>CCA397289710ENO3c.452A>C (p.Asn151Thr)
c.323A>C (p.Asn108Thr)
c.*398A>C (n.*398A>C)
c.479A>C (p.Asn160Thr)
 dbSNP gnomAD v2
17g.4955082A>GCA8316323ENO3c.452A>G (p.Asn151Ser)
c.323A>G (p.Asn108Ser)
c.*398A>G (n.*398A>G)
c.479A>G (p.Asn160Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.4955082A>TCA397289707ENO3c.452A>T (p.Asn151Ile)
c.323A>T (p.Asn108Ile)
c.*398A>T (n.*398A>T)
c.479A>T (p.Asn160Ile)
 dbSNP gnomAD v3 gnomAD v4
17g.4955083T>ACA397289714ENO3c.453T>A (p.Asn151Lys)
c.324T>A (p.Asn108Lys)
c.*399T>A (n.*399T>A)
c.480T>A (p.Asn160Lys)
17g.4955083T>CCA8316324ENO3c.453T>C (p.Asn151=)
c.324T>C (p.Asn108=)
c.*399T>C (n.*399T>C)
c.480T>C (p.Asn160=)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.4955083T>GCA397289716ENO3c.453T>G (p.Asn151Lys)
c.324T>G (p.Asn108Lys)
c.*399T>G (n.*399T>G)
c.480T>G (p.Asn160Lys)
17g.4955083T=CA2244628060ENO3c.453T= (p.Asn151=)
c.324T= (p.Asn108=)
c.*399T= (n.*399T=)
c.480T= (p.Asn160=)
17g.4955084G>ACA8316325ENO3c.454G>A (p.Val152Met)
c.325G>A (p.Val109Met)
c.*400G>A (n.*400G>A)
c.481G>A (p.Val161Met)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.4955084G>CCA397289719ENO3c.454G>C (p.Val152Leu)
c.325G>C (p.Val109Leu)
c.*400G>C (n.*400G>C)
c.481G>C (p.Val161Leu)
17g.4955084G=CA2244628066ENO3c.454G= (p.Val152=)
c.325G= (p.Val109=)
c.*400G= (n.*400G=)
c.481G= (p.Val161=)
17g.4955084G>TCA397289721ENO3c.454G>T (p.Val152Leu)
c.325G>T (p.Val109Leu)
c.*400G>T (n.*400G>T)
c.481G>T (p.Val161Leu)
17g.4955085T>ACA397289724ENO3c.455T>A (p.Val152Glu)
c.326T>A (p.Val109Glu)
c.*401T>A (n.*401T>A)
c.482T>A (p.Val161Glu)
17g.4955085T>CCA397289726ENO3c.455T>C (p.Val152Ala)
c.326T>C (p.Val109Ala)
c.*401T>C (n.*401T>C)
c.482T>C (p.Val161Ala)
17g.4955085T>GCA397289727ENO3c.455T>G (p.Val152Gly)
c.326T>G (p.Val109Gly)
c.*401T>G (n.*401T>G)
c.482T>G (p.Val161Gly)
17g.4955086G>ACA497679265ENO3c.456G>A (p.Val152=)
c.327G>A (p.Val109=)
c.*402G>A (n.*402G>A)
c.483G>A (p.Val161=)
 dbSNP gnomAD v2
17g.4955086G>CCA497679266ENO3c.456G>C (p.Val152=)
c.327G>C (p.Val109=)
c.*402G>C (n.*402G>C)
c.483G>C (p.Val161=)
17g.4955086G=CA2244628069ENO3c.456G= (p.Val152=)
c.327G= (p.Val109=)
c.*402G= (n.*402G=)
c.483G= (p.Val161=)
17g.4955086G>TCA497679267ENO3c.456G>T (p.Val152=)
c.327G>T (p.Val109=)
c.*402G>T (n.*402G>T)
c.483G>T (p.Val161=)
17g.4955087A>CCA397289730ENO3c.457A>C (p.Ile153Leu)
c.328A>C (p.Ile110Leu)
c.*403A>C (n.*403A>C)
c.484A>C (p.Ile162Leu)
17g.4955087A>GCA397289731ENO3c.457A>G (p.Ile153Val)
c.328A>G (p.Ile110Val)
c.*403A>G (n.*403A>G)
c.484A>G (p.Ile162Val)
17g.4955087A>TCA397289732ENO3c.457A>T (p.Ile153Phe)
c.328A>T (p.Ile110Phe)
c.*403A>T (n.*403A>T)
c.484A>T (p.Ile162Phe)
17g.4955088T>ACA397289735ENO3c.458T>A (p.Ile153Asn)
c.329T>A (p.Ile110Asn)
c.*404T>A (n.*404T>A)
c.485T>A (p.Ile162Asn)
17g.4955088T>CCA397289737ENO3c.458T>C (p.Ile153Thr)
c.329T>C (p.Ile110Thr)
c.*404T>C (n.*404T>C)
c.485T>C (p.Ile162Thr)
17g.4955088T>GCA397289739ENO3c.458T>G (p.Ile153Ser)
c.329T>G (p.Ile110Ser)
c.*404T>G (n.*404T>G)
c.485T>G (p.Ile162Ser)
17g.4955089C>ACA497679269ENO3c.459C>A (p.Ile153=)
c.330C>A (p.Ile110=)
c.*405C>A (n.*405C>A)
c.486C>A (p.Ile162=)
17g.4955089C=CA2244628073ENO3c.459C= (p.Ile153=)
c.330C= (p.Ile110=)
c.*405C= (n.*405C=)
c.486C= (p.Ile162=)
17g.4955089C>GCA397289742ENO3c.459C>G (p.Ile153Met)
c.330C>G (p.Ile110Met)
c.*405C>G (n.*405C>G)
c.486C>G (p.Ile162Met)
 gnomAD v4
17g.4955089C>TCA8316326ENO3c.459C>T (p.Ile153=)
c.330C>T (p.Ile110=)
c.*405C>T (n.*405C>T)
c.486C>T (p.Ile162=)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.4955090A>CCA397289745ENO3c.460A>C (p.Asn154His)
c.331A>C (p.Asn111His)
c.*406A>C (n.*406A>C)
c.487A>C (p.Asn163His)
 ClinVar
17g.4955090A>GCA397289747ENO3c.460A>G (p.Asn154Asp)
c.331A>G (p.Asn111Asp)
c.*406A>G (n.*406A>G)
c.487A>G (p.Asn163Asp)
17g.4955090A>TCA397289749ENO3c.460A>T (p.Asn154Tyr)
c.331A>T (p.Asn111Tyr)
c.*406A>T (n.*406A>T)
c.487A>T (p.Asn163Tyr)
17g.4955091A=CA2244628077ENO3c.461A= (p.Asn154=)
c.332A= (p.Asn111=)
c.*407A= (n.*407A=)
c.488A= (p.Asn163=)
17g.4955091A>CCA397289752ENO3c.461A>C (p.Asn154Thr)
c.332A>C (p.Asn111Thr)
c.*407A>C (n.*407A>C)
c.488A>C (p.Asn163Thr)
17g.4955091A>GCA8316327ENO3c.461A>G (p.Asn154Ser)
c.332A>G (p.Asn111Ser)
c.*407A>G (n.*407A>G)
c.488A>G (p.Asn163Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.4955091A>TCA397289754ENO3c.461A>T (p.Asn154Ile)
c.332A>T (p.Asn111Ile)
c.*407A>T (n.*407A>T)
c.488A>T (p.Asn163Ile)
17g.4955092C>ACA397289757ENO3c.462C>A (p.Asn154Lys)
c.333C>A (p.Asn111Lys)
c.*408C>A (n.*408C>A)
c.489C>A (p.Asn163Lys)
17g.4955092C=CA2244628080ENO3c.462C= (p.Asn154=)
c.333C= (p.Asn111=)
c.*408C= (n.*408C=)
c.489C= (p.Asn163=)
17g.4955092C>GCA397289759ENO3c.462C>G (p.Asn154Lys)
c.333C>G (p.Asn111Lys)
c.*408C>G (n.*408C>G)
c.489C>G (p.Asn163Lys)
 gnomAD v4
17g.4955092C>TCA287175803ENO3c.462C>T (p.Asn154=)
c.333C>T (p.Asn111=)
c.*408C>T (n.*408C>T)
c.489C>T (p.Asn163=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17g.4955093G>ACA8316329ENO3c.463G>A (p.Gly155Arg)
c.334G>A (p.Gly112Arg)
c.*409G>A (n.*409G>A)
c.463G>A
c.490G>A (p.Gly164Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.4955093G>CCA397289763ENO3c.463G>C (p.Gly155Arg)
c.334G>C (p.Gly112Arg)
c.*409G>C (n.*409G>C)
c.463G>C
c.490G>C (p.Gly164Arg)
17g.4955093G=CA2244628084ENO3c.463G= (p.Gly155=)
c.334G= (p.Gly112=)
c.*409G= (n.*409G=)
c.463G=
c.490G= (p.Gly164=)
17g.4955093G>TCA397289764ENO3c.463G>T (p.Gly155Trp)
c.334G>T (p.Gly112Trp)
c.*409G>T (n.*409G>T)
c.463G>T
c.490G>T (p.Gly164Trp)
17g.4955097dupCA8316328ENO3c.467dup (p.Ser157LeufsTer?)
c.338dup (p.Ser114LeufsTer?)
c.*413dup (n.*413dup)
c.494dup (p.Ser166LeufsTer?)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.4955094G>ACA397289769ENO3c.464G>A (p.Gly155Glu)
c.335G>A (p.Gly112Glu)
c.*410G>A (n.*410G>A)
c.491G>A (p.Gly164Glu)
17g.4955094G>CCA397289770ENO3c.464G>C (p.Gly155Ala)
c.335G>C (p.Gly112Ala)
c.*410G>C (n.*410G>C)
c.491G>C (p.Gly164Ala)
17g.4955094G>TCA397289767ENO3c.464G>T (p.Gly155Val)
c.335G>T (p.Gly112Val)
c.*410G>T (n.*410G>T)
c.491G>T (p.Gly164Val)
17g.4955095G>ACA497679275ENO3c.465G>A (p.Gly155=)
c.336G>A (p.Gly112=)
c.*411G>A (n.*411G>A)
c.492G>A (p.Gly164=)
17g.4955095G>CCA497679277ENO3c.465G>C (p.Gly155=)
c.336G>C (p.Gly112=)
c.*411G>C (n.*411G>C)
c.492G>C (p.Gly164=)
17g.4955095G=CA2244628089ENO3c.465G= (p.Gly155=)
c.336G= (p.Gly112=)
c.*411G= (n.*411G=)
c.492G= (p.Gly164=)
17g.4955095G>TCA497679278ENO3c.465G>T (p.Gly155=)
c.336G>T (p.Gly112=)
c.*411G>T (n.*411G>T)
c.492G>T (p.Gly164=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.4955096G>ACA397289773ENO3c.466G>A (p.Gly156Ser)
c.337G>A (p.Gly113Ser)
c.*412G>A (n.*412G>A)
c.493G>A (p.Gly165Ser)
 gnomAD v4
17g.4955096G>CCA397289775ENO3c.466G>C (p.Gly156Arg)
c.337G>C (p.Gly113Arg)
c.*412G>C (n.*412G>C)
c.493G>C (p.Gly165Arg)
17g.4955096G>TCA397289777ENO3c.466G>T (p.Gly156Cys)
c.337G>T (p.Gly113Cys)
c.*412G>T (n.*412G>T)
c.493G>T (p.Gly165Cys)
17g.4955097G>ACA126730ENO3c.467G>A (p.Gly156Asp)
c.338G>A (p.Gly113Asp)
c.*413G>A (n.*413G>A)
c.494G>A (p.Gly165Asp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.4955097G>CCA8316330ENO3c.467G>C (p.Gly156Ala)
c.338G>C (p.Gly113Ala)
c.*413G>C (n.*413G>C)
c.494G>C (p.Gly165Ala)
 dbSNP ExAC gnomAD v4
17g.4955097G=CA2244628094ENO3c.467G= (p.Gly156=)
c.338G= (p.Gly113=)
c.*413G= (n.*413G=)
c.494G= (p.Gly165=)
17g.4955097G>TCA397289782ENO3c.467G>T (p.Gly156Val)
c.338G>T (p.Gly113Val)
c.*413G>T (n.*413G>T)
c.494G>T (p.Gly165Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.4955098C>ACA497679284ENO3c.468C>A (p.Gly156=)
c.339C>A (p.Gly113=)
c.*414C>A (n.*414C>A)
c.495C>A (p.Gly165=)
17g.4955098C>GCA497679283ENO3c.468C>G (p.Gly156=)
c.339C>G (p.Gly113=)
c.*414C>G (n.*414C>G)
c.495C>G (p.Gly165=)
17g.4955098C>TCA497679282ENO3c.468C>T (p.Gly156=)
c.339C>T (p.Gly113=)
c.*414C>T (n.*414C>T)
c.495C>T (p.Gly165=)
 ClinVar
17g.4955099T>ACA287175808ENO3c.469T>A (p.Ser157Thr)
c.340T>A (p.Ser114Thr)
c.*415T>A (n.*415T>A)
c.496T>A (p.Ser166Thr)
 dbSNP gnomAD v4
17g.4955099T>CCA397289785ENO3c.469T>C (p.Ser157Pro)
c.340T>C (p.Ser114Pro)
c.*415T>C (n.*415T>C)
c.496T>C (p.Ser166Pro)
 dbSNP gnomAD v4
17g.4955099T>GCA397289787ENO3c.469T>G (p.Ser157Ala)
c.340T>G (p.Ser114Ala)
c.*415T>G (n.*415T>G)
c.496T>G (p.Ser166Ala)
 ClinVar
17g.4955099T=CA2244628099ENO3c.469T= (p.Ser157=)
c.340T= (p.Ser114=)
c.*415T= (n.*415T=)
c.496T= (p.Ser166=)
17g.4955100C>ACA397289789ENO3c.470C>A (p.Ser157Tyr)
c.341C>A (p.Ser114Tyr)
c.*416C>A (n.*416C>A)
c.497C>A (p.Ser166Tyr)
17g.4955100C>GCA397289790ENO3c.470C>G (p.Ser157Cys)
c.341C>G (p.Ser114Cys)
c.*416C>G (n.*416C>G)
c.497C>G (p.Ser166Cys)
17g.4955100C>TCA397289792ENO3c.470C>T (p.Ser157Phe)
c.341C>T (p.Ser114Phe)
c.*416C>T (n.*416C>T)
c.497C>T (p.Ser166Phe)
17g.4955101C>ACA497679289ENO3c.471C>A (p.Ser157=)
c.342C>A (p.Ser114=)
c.*417C>A (n.*417C>A)
c.498C>A (p.Ser166=)
 COSMIC
17g.4955101C>GCA497679290ENO3c.471C>G (p.Ser157=)
c.342C>G (p.Ser114=)
c.*417C>G (n.*417C>G)
c.498C>G (p.Ser166=)
17g.4955101C>TCA497679291ENO3c.471C>T (p.Ser157=)
c.342C>T (p.Ser114=)
c.*417C>T (n.*417C>T)
c.498C>T (p.Ser166=)
17g.4955102C>ACA397289797ENO3c.472C>A (p.His158Asn)
c.343C>A (p.His115Asn)
c.*418C>A (n.*418C>A)
c.499C>A (p.His167Asn)
17g.4955102C=CA2244628102ENO3c.472C= (p.His158=)
c.343C= (p.His115=)
c.*418C= (n.*418C=)
c.499C= (p.His167=)
17g.4955102C>GCA397289798ENO3c.472C>G (p.His158Asp)
c.343C>G (p.His115Asp)
c.*418C>G (n.*418C>G)
c.499C>G (p.His167Asp)
17g.4955102C>TCA397289795ENO3c.472C>T (p.His158Tyr)
c.343C>T (p.His115Tyr)
c.*418C>T (n.*418C>T)
c.499C>T (p.His167Tyr)
 dbSNP gnomAD v2 gnomAD v4
17g.4955103A=CA2244628104ENO3c.473A= (p.His158=)
c.344A= (p.His115=)
c.*419A= (n.*419A=)
c.500A= (p.His167=)
17g.4955103A>CCA397289799ENO3c.473A>C (p.His158Pro)
c.344A>C (p.His115Pro)
c.*419A>C (n.*419A>C)
c.500A>C (p.His167Pro)
17g.4955103A>GCA8316331ENO3c.473A>G (p.His158Arg)
c.344A>G (p.His115Arg)
c.*419A>G (n.*419A>G)
c.500A>G (p.His167Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.4955103A>TCA397289800ENO3c.473A>T (p.His158Leu)
c.344A>T (p.His115Leu)
c.*419A>T (n.*419A>T)
c.500A>T (p.His167Leu)
17g.4955104T>ACA397289801ENO3c.474T>A (p.His158Gln)
c.345T>A (p.His115Gln)
c.*420T>A (n.*420T>A)
c.501T>A (p.His167Gln)
17g.4955104T>CCA497679292ENO3c.474T>C (p.His158=)
c.345T>C (p.His115=)
c.*420T>C (n.*420T>C)
c.501T>C (p.His167=)
 dbSNP gnomAD v4
17g.4955104T>GCA397289802ENO3c.474T>G (p.His158Gln)
c.345T>G (p.His115Gln)
c.*420T>G (n.*420T>G)
c.501T>G (p.His167Gln)
17g.4955104T=CA2244628107ENO3c.474T= (p.His158=)
c.345T= (p.His115=)
c.*420T= (n.*420T=)
c.501T= (p.His167=)
17g.4955105G>ACA397289805ENO3c.475G>A (p.Ala159Thr)
c.346G>A (p.Ala116Thr)
c.*421G>A (n.*421G>A)
c.502G>A (p.Ala168Thr)
 gnomAD v4
17g.4955105G>CCA397289804ENO3c.475G>C (p.Ala159Pro)
c.346G>C (p.Ala116Pro)
c.*421G>C (n.*421G>C)
c.502G>C (p.Ala168Pro)
 ClinVar dbSNP gnomAD v4
17g.4955105G=CA2244628109ENO3c.475G= (p.Ala159=)
c.346G= (p.Ala116=)
c.*421G= (n.*421G=)
c.502G= (p.Ala168=)
17g.4955105G>TCA397289803ENO3c.475G>T (p.Ala159Ser)
c.346G>T (p.Ala116Ser)
c.*421G>T (n.*421G>T)
c.502G>T (p.Ala168Ser)
 dbSNP gnomAD v4
17g.4955106C>ACA397289806ENO3c.476C>A (p.Ala159Asp)
c.347C>A (p.Ala116Asp)
c.*422C>A (n.*422C>A)
c.503C>A (p.Ala168Asp)
17g.4955106C>GCA397289807ENO3c.476C>G (p.Ala159Gly)
c.347C>G (p.Ala116Gly)
c.*422C>G (n.*422C>G)
c.503C>G (p.Ala168Gly)
17g.4955106C>TCA397289808ENO3c.476C>T (p.Ala159Val)
c.347C>T (p.Ala116Val)
c.*422C>T (n.*422C>T)
c.503C>T (p.Ala168Val)
17g.4955107T>ACA497679297ENO3c.477T>A (p.Ala159=)
c.348T>A (p.Ala116=)
c.*423T>A (n.*423T>A)
c.504T>A (p.Ala168=)
17g.4955107T>CCA497679298ENO3c.477T>C (p.Ala159=)
c.348T>C (p.Ala116=)
c.*423T>C (n.*423T>C)
c.504T>C (p.Ala168=)
 dbSNP
17g.4955107T>GCA497679299ENO3c.477T>G (p.Ala159=)
c.348T>G (p.Ala116=)
c.*423T>G (n.*423T>G)
c.504T>G (p.Ala168=)
17g.4955107T=CA2244628111ENO3c.477T= (p.Ala159=)
c.348T= (p.Ala116=)
c.*423T= (n.*423T=)
c.504T= (p.Ala168=)
17g.4955108G>ACA397289809ENO3c.478G>A (p.Gly160Arg)
c.349G>A (p.Gly117Arg)
c.*424G>A (n.*424G>A)
c.505G>A (p.Gly169Arg)
 gnomAD v4
17g.4955108G>CCA397289810ENO3c.478G>C (p.Gly160Arg)
c.349G>C (p.Gly117Arg)
c.*424G>C (n.*424G>C)
c.505G>C (p.Gly169Arg)
17g.4955108G>TCA397289811ENO3c.478G>T (p.Gly160Ter)
c.349G>T (p.Gly117Ter)
c.*424G>T (n.*424G>T)
c.505G>T (p.Gly169Ter)
17g.4955109G>ACA397289814ENO3c.479G>A (p.Gly160Glu)
c.350G>A (p.Gly117Glu)
c.*425G>A (n.*425G>A)
c.506G>A (p.Gly169Glu)
 gnomAD v4
17g.4955109G>CCA397289813ENO3c.479G>C (p.Gly160Ala)
c.350G>C (p.Gly117Ala)
c.*425G>C (n.*425G>C)
c.506G>C (p.Gly169Ala)
17g.4955109G>TCA397289812ENO3c.479G>T (p.Gly160Val)
c.350G>T (p.Gly117Val)
c.*425G>T (n.*425G>T)
c.506G>T (p.Gly169Val)
17g.4955110A=CA2244628114ENO3c.480A= (p.Gly160=)
c.351A= (p.Gly117=)
c.*426A= (n.*426A=)
c.507A= (p.Gly169=)
17g.4955110A>CCA8316332ENO3c.480A>C (p.Gly160=)
c.351A>C (p.Gly117=)
c.*426A>C (n.*426A>C)
c.507A>C (p.Gly169=)
 dbSNP ExAC gnomAD v4
17g.4955110A>GCA497679301ENO3c.480A>G (p.Gly160=)
c.351A>G (p.Gly117=)
c.*426A>G (n.*426A>G)
c.507A>G (p.Gly169=)
17g.4955110A>TCA497679302ENO3c.480A>T (p.Gly160=)
c.351A>T (p.Gly117=)
c.*426A>T (n.*426A>T)
c.507A>T (p.Gly169=)
17g.4955111A>CCA397289815ENO3c.481A>C (p.Asn161His)
c.352A>C (p.Asn118His)
c.*427A>C (n.*427A>C)
c.508A>C (p.Asn170His)
17g.4955111A>GCA397289816ENO3c.481A>G (p.Asn161Asp)
c.352A>G (p.Asn118Asp)
c.*427A>G (n.*427A>G)
c.508A>G (p.Asn170Asp)
17g.4955111A>TCA397289817ENO3c.481A>T (p.Asn161Tyr)
c.352A>T (p.Asn118Tyr)
c.*427A>T (n.*427A>T)
c.508A>T (p.Asn170Tyr)
17g.4955112A>CCA397289818ENO3c.482A>C (p.Asn161Thr)
c.353A>C (p.Asn118Thr)
c.*428A>C (n.*428A>C)
c.509A>C (p.Asn170Thr)
17g.4955112A>GCA397289819ENO3c.482A>G (p.Asn161Ser)
c.353A>G (p.Asn118Ser)
c.*428A>G (n.*428A>G)
c.509A>G (p.Asn170Ser)
17g.4955112A>TCA397289820ENO3c.482A>T (p.Asn161Ile)
c.353A>T (p.Asn118Ile)
c.*428A>T (n.*428A>T)
c.509A>T (p.Asn170Ile)
17g.4955113C>ACA397289821ENO3c.483C>A (p.Asn161Lys)
c.354C>A (p.Asn118Lys)
c.*429C>A (n.*429C>A)
c.510C>A (p.Asn170Lys)
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.4955113C=CA2244628118ENO3c.483C= (p.Asn161=)
c.354C= (p.Asn118=)
c.*429C= (n.*429C=)
c.510C= (p.Asn170=)
17g.4955113C>GCA397289822ENO3c.483C>G (p.Asn161Lys)
c.354C>G (p.Asn118Lys)
c.*429C>G (n.*429C>G)
c.510C>G (p.Asn170Lys)
 gnomAD v4
17g.4955113C>TCA497679308ENO3c.483C>T (p.Asn161=)
c.354C>T (p.Asn118=)
c.*429C>T (n.*429C>T)
c.510C>T (p.Asn170=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.4955114A=CA2244628122ENO3c.484A= (p.Lys162=)
c.355A= (p.Lys119=)
c.*430A= (n.*430A=)
c.511A= (p.Lys171=)
17g.4955114A>CCA397289823ENO3c.484A>C (p.Lys162Gln)
c.355A>C (p.Lys119Gln)
c.*430A>C (n.*430A>C)
c.511A>C (p.Lys171Gln)
 dbSNP gnomAD v4
17g.4955114A>GCA397289824ENO3c.484A>G (p.Lys162Glu)
c.355A>G (p.Lys119Glu)
c.*430A>G (n.*430A>G)
c.511A>G (p.Lys171Glu)
17g.4955114A>TCA397289825ENO3c.484A>T (p.Lys162Ter)
c.355A>T (p.Lys119Ter)
c.*430A>T (n.*430A>T)
c.511A>T (p.Lys171Ter)
17g.4955115A>CCA397289826ENO3c.485A>C (p.Lys162Thr)
c.356A>C (p.Lys119Thr)
c.*431A>C (n.*431A>C)
c.512A>C (p.Lys171Thr)
17g.4955115A>GCA397289827ENO3c.485A>G (p.Lys162Arg)
c.356A>G (p.Lys119Arg)
c.*431A>G (n.*431A>G)
c.512A>G (p.Lys171Arg)
17g.4955115A>TCA397289828ENO3c.485A>T (p.Lys162Met)
c.356A>T (p.Lys119Met)
c.*431A>T (n.*431A>T)
c.512A>T (p.Lys171Met)
17g.4955116G>ACA497679309ENO3c.486G>A (p.Lys162=)
c.357G>A (p.Lys119=)
c.*432G>A (n.*432G>A)
c.513G>A (p.Lys171=)
17g.4955116G>CCA397289830ENO3c.486G>C (p.Lys162Asn)
c.357G>C (p.Lys119Asn)
c.*432G>C (n.*432G>C)
c.513G>C (p.Lys171Asn)
 gnomAD v4
17g.4955116G>TCA397289829ENO3c.486G>T (p.Lys162Asn)
c.357G>T (p.Lys119Asn)
c.*432G>T (n.*432G>T)
c.513G>T (p.Lys171Asn)
17g.4955117C>ACA397289831ENO3c.487C>A (p.Leu163Met)
c.358C>A (p.Leu120Met)
c.*433C>A (n.*433C>A)
c.514C>A (p.Leu172Met)
17g.4955117C=CA2244628125ENO3c.487C= (p.Leu163=)
c.358C= (p.Leu120=)
c.*433C= (n.*433C=)
c.514C= (p.Leu172=)
17g.4955117C>GCA397289832ENO3c.487C>G (p.Leu163Val)
c.358C>G (p.Leu120Val)
c.*433C>G (n.*433C>G)
c.514C>G (p.Leu172Val)
 dbSNP gnomAD v2 gnomAD v4
17g.4955117C>TCA497679310ENO3c.487C>T (p.Leu163=)
c.358C>T (p.Leu120=)
c.*433C>T (n.*433C>T)
c.514C>T (p.Leu172=)
17g.4955118T>ACA397289833ENO3c.488T>A (p.Leu163Gln)
c.359T>A (p.Leu120Gln)
c.*434T>A (n.*434T>A)
c.515T>A (p.Leu172Gln)
17g.4955118T>CCA397289834ENO3c.488T>C (p.Leu163Pro)
c.359T>C (p.Leu120Pro)
c.*434T>C (n.*434T>C)
c.515T>C (p.Leu172Pro)
17g.4955118T>GCA397289835ENO3c.488T>G (p.Leu163Arg)
c.359T>G (p.Leu120Arg)
c.*434T>G (n.*434T>G)
c.515T>G (p.Leu172Arg)
17g.4955119G>ACA497679311ENO3c.489G>A (p.Leu163=)
c.360G>A (p.Leu120=)
c.*435G>A (n.*435G>A)
c.516G>A (p.Leu172=)
17g.4955119G>CCA497679313ENO3c.489G>C (p.Leu163=)
c.360G>C (p.Leu120=)
c.*435G>C (n.*435G>C)
c.516G>C (p.Leu172=)
17g.4955119G=CA2244628128ENO3c.489G= (p.Leu163=)
c.360G= (p.Leu120=)
c.*435G= (n.*435G=)
c.516G= (p.Leu172=)
17g.4955119G>TCA497679312ENO3c.489G>T (p.Leu163=)
c.360G>T (p.Leu120=)
c.*435G>T (n.*435G>T)
c.516G>T (p.Leu172=)
 dbSNP
17g.4955120G>ACA397289838ENO3c.490G>A (p.Ala164Thr)
c.361G>A (p.Ala121Thr)
c.*436G>A (n.*436G>A)
c.517G>A (p.Ala173Thr)
17g.4955120G>CCA397289837ENO3c.490G>C (p.Ala164Pro)
c.361G>C (p.Ala121Pro)
c.*436G>C (n.*436G>C)
c.517G>C (p.Ala173Pro)
17g.4955120G>TCA397289836ENO3c.490G>T (p.Ala164Ser)
c.361G>T (p.Ala121Ser)
c.*436G>T (n.*436G>T)
c.517G>T (p.Ala173Ser)
17g.4955121C>ACA397289839ENO3c.491C>A (p.Ala164Asp)
c.362C>A (p.Ala121Asp)
c.*437C>A (n.*437C>A)
c.518C>A (p.Ala173Asp)
17g.4955121C=CA2244628131ENO3c.491C= (p.Ala164=)
c.362C= (p.Ala121=)
c.*437C= (n.*437C=)
c.518C= (p.Ala173=)
17g.4955121C>GCA397289840ENO3c.491C>G (p.Ala164Gly)
c.362C>G (p.Ala121Gly)
c.*437C>G (n.*437C>G)
c.518C>G (p.Ala173Gly)
17g.4955121C>TCA397289841ENO3c.491C>T (p.Ala164Val)
c.362C>T (p.Ala121Val)
c.*437C>T (n.*437C>T)
c.518C>T (p.Ala173Val)
 dbSNP gnomAD v2 gnomAD v4
17g.4955122C>ACA497679314ENO3c.492C>A (p.Ala164=)
c.363C>A (p.Ala121=)
c.*438C>A (n.*438C>A)
c.519C>A (p.Ala173=)
17g.4955122C=CA2244628133ENO3c.492C= (p.Ala164=)
c.363C= (p.Ala121=)
c.*438C= (n.*438C=)
c.519C= (p.Ala173=)
17g.4955122C>GCA497679315ENO3c.492C>G (p.Ala164=)
c.363C>G (p.Ala121=)
c.*438C>G (n.*438C>G)
c.519C>G (p.Ala173=)
17g.4955122C>TCA497679316ENO3c.492C>T (p.Ala164=)
c.363C>T (p.Ala121=)
c.*438C>T (n.*438C>T)
c.519C>T (p.Ala173=)
 dbSNP
17g.4955123A=CA2244628138ENO3c.493A= (p.Met165=)
c.364A= (p.Met122=)
c.*439A= (n.*439A=)
c.520A= (p.Met174=)
17g.4955123A>CCA397289842ENO3c.493A>C (p.Met165Leu)
c.364A>C (p.Met122Leu)
c.*439A>C (n.*439A>C)
c.520A>C (p.Met174Leu)
17g.4955123A>GCA8316333ENO3c.493A>G (p.Met165Val)
c.364A>G (p.Met122Val)
c.*439A>G (n.*439A>G)
c.520A>G (p.Met174Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.4955123A>TCA397289843ENO3c.493A>T (p.Met165Leu)
c.364A>T (p.Met122Leu)
c.*439A>T (n.*439A>T)
c.520A>T (p.Met174Leu)
17g.4955124T>ACA397289844ENO3c.494T>A (p.Met165Lys)
c.365T>A (p.Met122Lys)
c.*440T>A (n.*440T>A)
c.521T>A (p.Met174Lys)
17g.4955124T>CCA397289846ENO3c.494T>C (p.Met165Thr)
c.365T>C (p.Met122Thr)
c.*440T>C (n.*440T>C)
c.521T>C (p.Met174Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.4955124T>GCA397289845ENO3c.494T>G (p.Met165Arg)
c.365T>G (p.Met122Arg)
c.*440T>G (n.*440T>G)
c.521T>G (p.Met174Arg)
17g.4955124T=CA2244628143ENO3c.494T= (p.Met165=)
c.365T= (p.Met122=)
c.*440T= (n.*440T=)
c.521T= (p.Met174=)
17g.4955125G>ACA397289847ENO3c.495G>A (p.Met165Ile)
c.366G>A (p.Met122Ile)
c.*441G>A (n.*441G>A)
c.522G>A (p.Met174Ile)
17g.4955125G>CCA397289848ENO3c.495G>C (p.Met165Ile)
c.366G>C (p.Met122Ile)
c.*441G>C (n.*441G>C)
c.522G>C (p.Met174Ile)
17g.4955125G=CA2244628148ENO3c.495G= (p.Met165=)
c.366G= (p.Met122=)
c.*441G= (n.*441G=)
c.522G= (p.Met174=)
17g.4955125G>TCA8316334ENO3c.495G>T (p.Met165Ile)
c.366G>T (p.Met122Ile)
c.*441G>T (n.*441G>T)
c.522G>T (p.Met174Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.4955126C>ACA397289849ENO3c.496C>A (p.Gln166Lys)
c.367C>A (p.Gln123Lys)
c.*442C>A (n.*442C>A)
c.523C>A (p.Gln175Lys)
17g.4955126C=CA2244628155ENO3c.496C= (p.Gln166=)
c.367C= (p.Gln123=)
c.*442C= (n.*442C=)
c.523C= (p.Gln175=)
17g.4955126C>GCA397289850ENO3c.496C>G (p.Gln166Glu)
c.367C>G (p.Gln123Glu)
c.*442C>G (n.*442C>G)
c.523C>G (p.Gln175Glu)
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.4955126C>TCA397289851ENO3c.496C>T (p.Gln166Ter)
c.367C>T (p.Gln123Ter)
c.*442C>T (n.*442C>T)
c.523C>T (p.Gln175Ter)
 dbSNP gnomAD v3 gnomAD v4
17g.4955126_4955129delinsCAGGCA2244628154ENO3c.496_499delinsCAGG (p.Gln166=)
c.367_370delinsCAGG (p.Gln123=)
c.*442_*445delinsCAGG (n.*442_*445delinsCAGG)
c.523_526delinsCAGG (p.Gln175=)
17g.4955127A=CA2244628160ENO3c.497A= (p.Gln166=)
c.368A= (p.Gln123=)
c.*443A= (n.*443A=)
c.524A= (p.Gln175=)
17g.4955127A>CCA397289854ENO3c.497A>C (p.Gln166Pro)
c.368A>C (p.Gln123Pro)
c.*443A>C (n.*443A>C)
c.524A>C (p.Gln175Pro)
17g.4955127A>GCA397289852ENO3c.497A>G (p.Gln166Arg)
c.368A>G (p.Gln123Arg)
c.*443A>G (n.*443A>G)
c.524A>G (p.Gln175Arg)
 dbSNP gnomAD v2 gnomAD v4
17g.4955127A>TCA397289853ENO3c.497A>T (p.Gln166Leu)
c.368A>T (p.Gln123Leu)
c.*443A>T (n.*443A>T)
c.524A>T (p.Gln175Leu)
17g.4955129_4955131delCA772695228ENO3c.499_501del (p.Glu167del)
c.370_372del (p.Glu124del)
c.*445_*447del (n.*445_*447del)
c.526_528del (p.Glu176del)
 dbSNP
17g.4955128G>ACA497679317ENO3c.498G>A (p.Gln166=)
c.369G>A (p.Gln123=)
c.*444G>A (n.*444G>A)
c.525G>A (p.Gln175=)
17g.4955128G>CCA397289855ENO3c.498G>C (p.Gln166His)
c.369G>C (p.Gln123His)
c.*444G>C (n.*444G>C)
c.525G>C (p.Gln175His)
17g.4955128G>TCA397289856ENO3c.498G>T (p.Gln166His)
c.369G>T (p.Gln123His)
c.*444G>T (n.*444G>T)
c.525G>T (p.Gln175His)
17g.4955129G>ACA397289857ENO3c.499G>A (p.Glu167Lys)
c.370G>A (p.Glu124Lys)
c.*445G>A (n.*445G>A)
c.526G>A (p.Glu176Lys)
 COSMIC
17g.4955129G>CCA397289858ENO3c.499G>C (p.Glu167Gln)
c.370G>C (p.Glu124Gln)
c.*445G>C (n.*445G>C)
c.526G>C (p.Glu176Gln)
17g.4955129G>TCA397289859ENO3c.499G>T (p.Glu167Ter)
c.370G>T (p.Glu124Ter)
c.*445G>T (n.*445G>T)
c.526G>T (p.Glu176Ter)
17g.4955130A=CA2244628164ENO3c.500A= (p.Glu167=)
c.371A= (p.Glu124=)
c.*446A= (n.*446A=)
c.527A= (p.Glu176=)
17g.4955130A>CCA397289860ENO3c.500A>C (p.Glu167Ala)
c.371A>C (p.Glu124Ala)
c.*446A>C (n.*446A>C)
c.527A>C (p.Glu176Ala)
17g.4955130A>GCA397289862ENO3c.500A>G (p.Glu167Gly)
c.371A>G (p.Glu124Gly)
c.*446A>G (n.*446A>G)
c.527A>G (p.Glu176Gly)
 gnomAD v4
17g.4955130A>TCA397289861ENO3c.500A>T (p.Glu167Val)
c.371A>T (p.Glu124Val)
c.*446A>T (n.*446A>T)
c.527A>T (p.Glu176Val)
 dbSNP gnomAD v3 gnomAD v4
17g.4955131G>ACA8316335ENO3c.501G>A (p.Glu167=)
c.372G>A (p.Glu124=)
c.*447G>A (n.*447G>A)
c.528G>A (p.Glu176=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.4955131G>CCA397289863ENO3c.501G>C (p.Glu167Asp)
c.372G>C (p.Glu124Asp)
c.*447G>C (n.*447G>C)
c.528G>C (p.Glu176Asp)
17g.4955131G=CA2244628168ENO3c.501G= (p.Glu167=)
c.372G= (p.Glu124=)
c.*447G= (n.*447G=)
c.528G= (p.Glu176=)
17g.4955131G>TCA397289864ENO3c.501G>T (p.Glu167Asp)
c.372G>T (p.Glu124Asp)
c.*447G>T (n.*447G>T)
c.528G>T (p.Glu176Asp)
 dbSNP
17g.4955132T>ACA397289865ENO3c.502T>A (p.Phe168Ile)
c.373T>A (p.Phe125Ile)
c.*448T>A (n.*448T>A)
c.529T>A (p.Phe177Ile)
17g.4955132T>CCA397289866ENO3c.502T>C (p.Phe168Leu)
c.373T>C (p.Phe125Leu)
c.*448T>C (n.*448T>C)
c.529T>C (p.Phe177Leu)
17g.4955132T>GCA397289867ENO3c.502T>G (p.Phe168Val)
c.373T>G (p.Phe125Val)
c.*448T>G (n.*448T>G)
c.529T>G (p.Phe177Val)
17g.4955133T>ACA397289868ENO3c.503T>A (p.Phe168Tyr)
c.374T>A (p.Phe125Tyr)
c.*449T>A (n.*449T>A)
c.530T>A (p.Phe177Tyr)
17g.4955133T>CCA397289869ENO3c.503T>C (p.Phe168Ser)
c.374T>C (p.Phe125Ser)
c.*449T>C (n.*449T>C)
c.530T>C (p.Phe177Ser)
 gnomAD v4
17g.4955133T>GCA397289870ENO3c.503T>G (p.Phe168Cys)
c.374T>G (p.Phe125Cys)
c.*449T>G (n.*449T>G)
c.530T>G (p.Phe177Cys)
17g.4955134C>ACA397289871ENO3c.504C>A (p.Phe168Leu)
c.375C>A (p.Phe125Leu)
c.*450C>A (n.*450C>A)
c.531C>A (p.Phe177Leu)
17g.4955134C=CA2244628171ENO3c.504C= (p.Phe168=)
c.375C= (p.Phe125=)
c.*450C= (n.*450C=)
c.531C= (p.Phe177=)
17g.4955134C>GCA397289872ENO3c.504C>G (p.Phe168Leu)
c.375C>G (p.Phe125Leu)
c.*450C>G (n.*450C>G)
c.531C>G (p.Phe177Leu)
17g.4955134C>TCA497679318ENO3c.504C>T (p.Phe168=)
c.375C>T (p.Phe125=)
c.*450C>T (n.*450C>T)
c.531C>T (p.Phe177=)
 dbSNP
17g.4955135A=CA2244628174ENO3c.505A= (p.Met169=)
c.376A= (p.Met126=)
c.*451A= (n.*451A=)
c.532A= (p.Met178=)
17g.4955135A>CCA397289874ENO3c.505A>C (p.Met169Leu)
c.376A>C (p.Met126Leu)
c.*451A>C (n.*451A>C)
c.532A>C (p.Met178Leu)
17g.4955135A>GCA397289875ENO3c.505A>G (p.Met169Val)
c.376A>G (p.Met126Val)
c.*451A>G (n.*451A>G)
c.532A>G (p.Met178Val)
 dbSNP
17g.4955135A>TCA397289873ENO3c.505A>T (p.Met169Leu)
c.376A>T (p.Met126Leu)
c.*451A>T (n.*451A>T)
c.532A>T (p.Met178Leu)
17g.4955136T>ACA397289876ENO3c.506T>A (p.Met169Lys)
c.377T>A (p.Met126Lys)
c.*452T>A (n.*452T>A)
c.533T>A (p.Met178Lys)
17g.4955136T>CCA397289878ENO3c.506T>C (p.Met169Thr)
c.377T>C (p.Met126Thr)
c.*452T>C (n.*452T>C)
c.533T>C (p.Met178Thr)
 ClinVar dbSNP gnomAD v4
17g.4955136T>GCA397289877ENO3c.506T>G (p.Met169Arg)
c.377T>G (p.Met126Arg)
c.*452T>G (n.*452T>G)
c.533T>G (p.Met178Arg)
17g.4955136T=CA2244628176ENO3c.506T= (p.Met169=)
c.377T= (p.Met126=)
c.*452T= (n.*452T=)
c.533T= (p.Met178=)
17g.4955137G>ACA397289879ENO3c.507G>A (p.Met169Ile)
c.378G>A (p.Met126Ile)
c.*453G>A (n.*453G>A)
c.534G>A (p.Met178Ile)
17g.4955137G>CCA397289880ENO3c.507G>C (p.Met169Ile)
c.378G>C (p.Met126Ile)
c.*453G>C (n.*453G>C)
c.534G>C (p.Met178Ile)
17g.4955137G>TCA397289881ENO3c.507G>T (p.Met169Ile)
c.378G>T (p.Met126Ile)
c.*453G>T (n.*453G>T)
c.534G>T (p.Met178Ile)
 COSMIC
17g.4955138A>CCA397289882ENO3c.508A>C (p.Ile170Leu)
c.379A>C (p.Ile127Leu)
c.*454A>C (n.*454A>C)
c.535A>C (p.Ile179Leu)
17g.4955138A>GCA397289883ENO3c.508A>G (p.Ile170Val)
c.379A>G (p.Ile127Val)
c.*454A>G (n.*454A>G)
c.535A>G (p.Ile179Val)
17g.4955138A>TCA397289884ENO3c.508A>T (p.Ile170Phe)
c.379A>T (p.Ile127Phe)
c.*454A>T (n.*454A>T)
c.535A>T (p.Ile179Phe)
17g.4955139T>ACA397289887ENO3c.509T>A (p.Ile170Asn)
c.380T>A (p.Ile127Asn)
c.*455T>A (n.*455T>A)
c.536T>A (p.Ile179Asn)
17g.4955139T>CCA397289886ENO3c.509T>C (p.Ile170Thr)
c.380T>C (p.Ile127Thr)
c.*455T>C (n.*455T>C)
c.536T>C (p.Ile179Thr)
17g.4955139T>GCA397289885ENO3c.509T>G (p.Ile170Ser)
c.380T>G (p.Ile127Ser)
c.*455T>G (n.*455T>G)
c.536T>G (p.Ile179Ser)
 gnomAD v4
17g.4955140T>ACA497679319ENO3c.510T>A (p.Ile170=)
c.381T>A (p.Ile127=)
c.*456T>A (n.*456T>A)
c.537T>A (p.Ile179=)
17g.4955140T>CCA497679320ENO3c.510T>C (p.Ile170=)
c.381T>C (p.Ile127=)
c.*456T>C (n.*456T>C)
c.537T>C (p.Ile179=)
 dbSNP COSMIC
17g.4955140T>GCA397289888ENO3c.510T>G (p.Ile170Met)
c.381T>G (p.Ile127Met)
c.*456T>G (n.*456T>G)
c.537T>G (p.Ile179Met)
17g.4955140T=CA2244628179ENO3c.510T= (p.Ile170=)
c.381T= (p.Ile127=)
c.*456T= (n.*456T=)
c.537T= (p.Ile179=)
17g.4955140_4955141insGCA624856677ENO3c.510_511insG (p.Leu171AlafsTer?)
c.381_382insG (p.Leu128AlafsTer?)
c.*456_*457insG (n.*456_*457insG)
c.537_538insG (p.Leu180AlafsTer?)
 dbSNP gnomAD v2
17g.4955141C>ACA397289889ENO3c.511C>A (p.Leu171Met)
c.382C>A (p.Leu128Met)
c.*457C>A (n.*457C>A)
c.538C>A (p.Leu180Met)
17g.4955141C>GCA397289890ENO3c.511C>G (p.Leu171Val)
c.382C>G (p.Leu128Val)
c.*457C>G (n.*457C>G)
c.538C>G (p.Leu180Val)
17g.4955141C>TCA497679321ENO3c.511C>T (p.Leu171=)
c.382C>T (p.Leu128=)
c.*457C>T (n.*457C>T)
c.538C>T (p.Leu180=)
17g.4955142T>ACA397289891ENO3c.512T>A (p.Leu171Gln)
c.383T>A (p.Leu128Gln)
c.*458T>A (n.*458T>A)
c.539T>A (p.Leu180Gln)
17g.4955142T>CCA397289892ENO3c.512T>C (p.Leu171Pro)
c.383T>C (p.Leu128Pro)
c.*458T>C (n.*458T>C)
c.539T>C (p.Leu180Pro)
17g.4955142T>GCA397289893ENO3c.512T>G (p.Leu171Arg)
c.383T>G (p.Leu128Arg)
c.*458T>G (n.*458T>G)
c.539T>G (p.Leu180Arg)
17g.4955142_4955143delinsTGCA2244628184ENO3c.512_513delinsTG (p.Leu171=)
c.383_384delinsTG (p.Leu128=)
c.*458_*459delinsTG (n.*458_*459delinsTG)
c.539_540delinsTG (p.Leu180=)
17g.4955143delCA624856678ENO3c.513del (p.Pro172LeufsTer?)
c.384del (p.Pro129LeufsTer?)
c.*459del (n.*459del)
c.540del (p.Pro181LeufsTer?)
 dbSNP gnomAD v2
17g.4955143G>ACA497679323ENO3c.513G>A (p.Leu171=)
c.384G>A (p.Leu128=)
c.*459G>A (n.*459G>A)
c.540G>A (p.Leu180=)
17g.4955143G>CCA497679324ENO3c.513G>C (p.Leu171=)
c.384G>C (p.Leu128=)
c.*459G>C (n.*459G>C)
c.540G>C (p.Leu180=)
17g.4955143G>TCA497679325ENO3c.513G>T (p.Leu171=)
c.384G>T (p.Leu128=)
c.*459G>T (n.*459G>T)
c.540G>T (p.Leu180=)
17g.4955144C>ACA397289894ENO3c.514C>A (p.Pro172Thr)
c.385C>A (p.Pro129Thr)
c.*460C>A (n.*460C>A)
c.541C>A (p.Pro181Thr)
17g.4955144C>GCA397289896ENO3c.514C>G (p.Pro172Ala)
c.385C>G (p.Pro129Ala)
c.*460C>G (n.*460C>G)
c.541C>G (p.Pro181Ala)
17g.4955144C>TCA397289895ENO3c.514C>T (p.Pro172Ser)
c.385C>T (p.Pro129Ser)
c.*460C>T (n.*460C>T)
c.541C>T (p.Pro181Ser)
 gnomAD v4
17g.4955145C>ACA397289897ENO3c.515C>A (p.Pro172His)
c.386C>A (p.Pro129His)
c.*461C>A (n.*461C>A)
c.542C>A (p.Pro181His)
17g.4955145C>GCA397289898ENO3c.515C>G (p.Pro172Arg)
c.386C>G (p.Pro129Arg)
c.*461C>G (n.*461C>G)
c.542C>G (p.Pro181Arg)
17g.4955145C>TCA397289899ENO3c.515C>T (p.Pro172Leu)
c.386C>T (p.Pro129Leu)
c.*461C>T (n.*461C>T)
c.542C>T (p.Pro181Leu)
 gnomAD v4

Number of alleles fetched