Chr Mutation (hg38) CAid Gene Transcript Linkouts
20g.46011228delCA9886491MMP9c.735del (p.Thr246ProfsTer?)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.46011228C>ACA510751779MMP9c.735C>A (p.Thr245=)
20g.46011228C=CA2366478681MMP9c.735C= (p.Thr245=)
20g.46011228C>GCA510751780MMP9c.735C>G (p.Thr245=)
20g.46011228C>TCA315635153MMP9c.735C>T (p.Thr245=)
dbSNP
20g.46011229A=CA2366478682MMP9c.736A= (p.Thr246=)
20g.46011229A>CCA409213558MMP9c.736A>C (p.Thr246Pro)
dbSNP
20g.46011229A>GCA409213561MMP9c.736A>G (p.Thr246Ala)
20g.46011229A>TCA409213563MMP9c.736A>T (p.Thr246Ser)
20g.46011230C>ACA409213566MMP9c.737C>A (p.Thr246Asn)
20g.46011230C=CA2366478683MMP9c.737C= (p.Thr246=)
20g.46011230C>GCA409213570MMP9c.737C>G (p.Thr246Ser)
20g.46011230C>TCA9886492MMP9c.737C>T (p.Thr246Ile)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.46011231C>ACA510751781MMP9c.738C>A (p.Thr246=)
gnomAD v4
20g.46011231C=CA2366478684MMP9c.738C= (p.Thr246=)
20g.46011231C>GCA510751782MMP9c.738C>G (p.Thr246=)
dbSNP gnomAD v3 gnomAD v4
20g.46011231C>TCA9886493MMP9c.738C>T (p.Thr246=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.46011232G>ACA9886494MMP9c.739G>A (p.Asp247Asn)
dbSNP ExAC gnomAD v4
20g.46011232G>CCA409213577MMP9c.739G>C (p.Asp247His)
20g.46011232G=CA2366478685MMP9c.739G= (p.Asp247=)
20g.46011232G>TCA409213579MMP9c.739G>T (p.Asp247Tyr)
20g.46011233A>CCA409213586MMP9c.740A>C (p.Asp247Ala)
20g.46011233A>GCA409213589MMP9c.740A>G (p.Asp247Gly)
20g.46011233A>TCA409213591MMP9c.740A>T (p.Asp247Val)
20g.46011234C>ACA315635172MMP9c.741C>A (p.Asp247Glu)
dbSNP gnomAD v2 gnomAD v4
20g.46011234C=CA2366478686MMP9c.741C= (p.Asp247=)
20g.46011234C>GCA9886495MMP9c.741C>G (p.Asp247Glu)
dbSNP ExAC gnomAD v2 gnomAD v4
20g.46011234C>TCA315635176MMP9c.741C>T (p.Asp247=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
20g.46011235G>ACA409213603MMP9c.742G>A (p.Gly248Ser)
dbSNP gnomAD v4 COSMIC
20g.46011235G>CCA409213605MMP9c.742G>C (p.Gly248Arg)
20g.46011235G=CA2366478687MMP9c.742G= (p.Gly248=)
20g.46011235G>TCA409213608MMP9c.742G>T (p.Gly248Cys)
20g.46011236G>ACA409213610MMP9c.743G>A (p.Gly248Asp)
20g.46011236G>CCA409213613MMP9c.743G>C (p.Gly248Ala)
20g.46011236G>TCA409213615MMP9c.743G>T (p.Gly248Val)
20g.46011237T>ACA510751783MMP9c.744T>A (p.Gly248=)
20g.46011237T>CCA510751785MMP9c.744T>C (p.Gly248=)
20g.46011237T>GCA510751784MMP9c.744T>G (p.Gly248=)
20g.46011238C>ACA409213630MMP9c.745C>A (p.Arg249Ser)
20g.46011238C>GCA409213627MMP9c.745C>G (p.Arg249Gly)
20g.46011238C>TCA409213625MMP9c.745C>T (p.Arg249Cys)
20g.46011239G>ACA409213634MMP9c.746G>A (p.Arg249His)
20g.46011239G>CCA409213638MMP9c.746G>C (p.Arg249Pro)
20g.46011239G>TCA409213639MMP9c.746G>T (p.Arg249Leu)
20g.46011240C>ACA510751786MMP9c.747C>A (p.Arg249=)
20g.46011240C=CA2366478688MMP9c.747C= (p.Arg249=)
20g.46011240C>GCA510751787MMP9c.747C>G (p.Arg249=)
20g.46011240C>TCA510751788MMP9c.747C>T (p.Arg249=)
dbSNP
20g.46011241T>ACA409213642MMP9c.748T>A (p.Ser250Thr)
20g.46011241T>CCA409213643MMP9c.748T>C (p.Ser250Pro)
20g.46011241T>GCA409213645MMP9c.748T>G (p.Ser250Ala)
20g.46011242C>ACA409213648MMP9c.749C>A (p.Ser250Tyr)
20g.46011242C>GCA409213653MMP9c.749C>G (p.Ser250Cys)
20g.46011242C>TCA409213651MMP9c.749C>T (p.Ser250Phe)
20g.46011243C>ACA510751789MMP9c.750C>A (p.Ser250=)
20g.46011243C=CA2366478689MMP9c.750C= (p.Ser250=)
20g.46011243C>GCA9886496MMP9c.750C>G (p.Ser250=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.46011243C>TCA510751790MMP9c.750C>T (p.Ser250=)
20g.46011244G>ACA409213656MMP9c.751G>A (p.Asp251Asn)
20g.46011244G>CCA409213657MMP9c.751G>C (p.Asp251His)
20g.46011244G>TCA409213663MMP9c.751G>T (p.Asp251Tyr)
gnomAD v4
20g.46011245A>CCA409213667MMP9c.752A>C (p.Asp251Ala)
20g.46011245A>GCA409213674MMP9c.752A>G (p.Asp251Gly)
20g.46011245A>TCA409213677MMP9c.752A>T (p.Asp251Val)
20g.46011246C>ACA409213680MMP9c.753C>A (p.Asp251Glu)
20g.46011246C=CA2366478690MMP9c.753C= (p.Asp251=)
20g.46011246C>GCA409213681MMP9c.753C>G (p.Asp251Glu)
20g.46011246C>TCA510751791MMP9c.753C>T (p.Asp251=)
dbSNP gnomAD v2 gnomAD v4 COSMIC
20g.46011247G>ACA409213685MMP9c.754G>A (p.Gly252Ser)
dbSNP
20g.46011247G>CCA409213689MMP9c.754G>C (p.Gly252Arg)
20g.46011247G=CA2366478691MMP9c.754G= (p.Gly252=)
20g.46011247G>TCA9886497MMP9c.754G>T (p.Gly252Cys)
dbSNP ExAC gnomAD v2 gnomAD v4
20g.46011248G>ACA409213697MMP9c.755G>A (p.Gly252Asp)
20g.46011248G>CCA409213704MMP9c.755G>C (p.Gly252Ala)
20g.46011248G>TCA409213703MMP9c.755G>T (p.Gly252Val)
20g.46011249C>ACA510751792MMP9c.756C>A (p.Gly252=)
20g.46011249C>GCA510751793MMP9c.756C>G (p.Gly252=)
20g.46011249C>TCA510751794MMP9c.756C>T (p.Gly252=)
20g.46011250T>ACA409213705MMP9c.757T>A (p.Leu253Met)
20g.46011250T>CCA510751795MMP9c.757T>C (p.Leu253=)
gnomAD v4
20g.46011250T>GCA409213706MMP9c.757T>G (p.Leu253Val)
20g.46011251T>ACA409213707MMP9c.758T>A (p.Leu253Ter)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.46011251T>CCA409213708MMP9c.758T>C (p.Leu253Ser)
gnomAD v4 COSMIC
20g.46011251T>GCA409213710MMP9c.758T>G (p.Leu253Trp)
20g.46011251T=CA2366478692MMP9c.758T= (p.Leu253=)
20g.46011252G>ACA510751796MMP9c.759G>A (p.Leu253=)
gnomAD v4
20g.46011252G>CCA409213712MMP9c.759G>C (p.Leu253Phe)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.46011252G=CA2366478693MMP9c.759G= (p.Leu253=)
20g.46011252G>TCA409213713MMP9c.759G>T (p.Leu253Phe)
gnomAD v4
20g.46011253C>ACA409213715MMP9c.760C>A (p.Pro254Thr)
ClinVar
20g.46011253C=CA2366478694MMP9c.760C= (p.Pro254=)
20g.46011253C>GCA409213716MMP9c.760C>G (p.Pro254Ala)
20g.46011253C>TCA409213718MMP9c.760C>T (p.Pro254Ser)
dbSNP gnomAD v2 gnomAD v4
20g.46011255_46011267delCA2653118207MMP9c.762_774del (p.Trp255ArgfsTer?)
gnomAD v4
20g.46011254C>ACA409213723MMP9c.761C>A (p.Pro254His)
20g.46011254C=CA2366478695MMP9c.761C= (p.Pro254=)
20g.46011254C>GCA409213725MMP9c.761C>G (p.Pro254Arg)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.46011254C>TCA409213727MMP9c.761C>T (p.Pro254Leu)
20g.46011255C>ACA510751797MMP9c.762C>A (p.Pro254=)
20g.46011255C=CA2366478696MMP9c.762C= (p.Pro254=)
20g.46011255C>GCA9886498MMP9c.762C>G (p.Pro254=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.46011255C>TCA510751798MMP9c.762C>T (p.Pro254=)
20g.46011256T>ACA409213732MMP9c.763T>A (p.Trp255Arg)
20g.46011256T>CCA409213736MMP9c.763T>C (p.Trp255Arg)
20g.46011256T>GCA409213738MMP9c.763T>G (p.Trp255Gly)
20g.46011257G>ACA409213739MMP9c.764G>A (p.Trp255Ter)
ClinVar
20g.46011257G>CCA409213741MMP9c.764G>C (p.Trp255Ser)
gnomAD v4
20g.46011257G>TCA409213742MMP9c.764G>T (p.Trp255Leu)
20g.46011258G>ACA409213745MMP9c.765G>A (p.Trp255Ter)
20g.46011258G>CCA409213748MMP9c.765G>C (p.Trp255Cys)
COSMIC
20g.46011258G>TCA409213750MMP9c.765G>T (p.Trp255Cys)
20g.46011259T>ACA409213758MMP9c.766T>A (p.Cys256Ser)
20g.46011259T>CCA409213759MMP9c.766T>C (p.Cys256Arg)
20g.46011259T>GCA409213768MMP9c.766T>G (p.Cys256Gly)
gnomAD v4
20g.46011260G>ACA409213777MMP9c.767G>A (p.Cys256Tyr)
dbSNP gnomAD v2
20g.46011260G>CCA409213774MMP9c.767G>C (p.Cys256Ser)
20g.46011260G=CA2366478697MMP9c.767G= (p.Cys256=)
20g.46011260G>TCA409213772MMP9c.767G>T (p.Cys256Phe)
dbSNP gnomAD v2
20g.46011261C>ACA409213778MMP9c.768C>A (p.Cys256Ter)
20g.46011261C=CA2366478698MMP9c.768C= (p.Cys256=)
20g.46011261C>GCA409213781MMP9c.768C>G (p.Cys256Trp)
20g.46011261C>TCA510751799MMP9c.768C>T (p.Cys256=)
dbSNP gnomAD v2 gnomAD v4
20g.46011262A=CA2366478699MMP9c.769A= (p.Ser257=)
20g.46011262A>CCA409213782MMP9c.769A>C (p.Ser257Arg)
20g.46011262A>GCA409213783MMP9c.769A>G (p.Ser257Gly)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.46011262A>TCA409213785MMP9c.769A>T (p.Ser257Cys)
20g.46011263G>ACA9886499MMP9c.770G>A (p.Ser257Asn)
dbSNP ExAC gnomAD v2 gnomAD v4
20g.46011263G>CCA409213787MMP9c.770G>C (p.Ser257Thr)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.46011263G=CA2366478700MMP9c.770G= (p.Ser257=)
20g.46011263G>TCA409213790MMP9c.770G>T (p.Ser257Ile)
20g.46011264T>ACA409213794MMP9c.771T>A (p.Ser257Arg)
20g.46011264T>CCA510751800MMP9c.771T>C (p.Ser257=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.46011264T>GCA409213795MMP9c.771T>G (p.Ser257Arg)
20g.46011264T=CA2366478701MMP9c.771T= (p.Ser257=)
20g.46011265A>CCA409213797MMP9c.772A>C (p.Thr258Pro)
20g.46011265A>GCA409213799MMP9c.772A>G (p.Thr258Ala)
20g.46011265A>TCA409213801MMP9c.772A>T (p.Thr258Ser)
20g.46011266C>ACA409213807MMP9c.773C>A (p.Thr258Asn)
20g.46011266C=CA2366478702MMP9c.773C= (p.Thr258=)
20g.46011266C>GCA409213809MMP9c.773C>G (p.Thr258Ser)
20g.46011266C>TCA9886500MMP9c.773C>T (p.Thr258Ile)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.46011267C>ACA510751803MMP9c.774C>A (p.Thr258=)
20g.46011267C>GCA510751801MMP9c.774C>G (p.Thr258=)
20g.46011267C>TCA510751802MMP9c.774C>T (p.Thr258=)
20g.46011268A>CCA409213814MMP9c.775A>C (p.Thr259Pro)
gnomAD v4
20g.46011268A>GCA409213822MMP9c.775A>G (p.Thr259Ala)
20g.46011268A>TCA409213820MMP9c.775A>T (p.Thr259Ser)
20g.46011269C>ACA409213824MMP9c.776C>A (p.Thr259Lys)
20g.46011269C=CA2366478703MMP9c.776C= (p.Thr259=)
20g.46011269C>GCA409213826MMP9c.776C>G (p.Thr259Arg)
20g.46011269C>TCA9886501MMP9c.776C>T (p.Thr259Met)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.46011270G>ACA510751804MMP9c.777G>A (p.Thr259=)
dbSNP gnomAD v2 gnomAD v4
20g.46011270G>CCA510751805MMP9c.777G>C (p.Thr259=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.46011270G=CA2366478704MMP9c.777G= (p.Thr259=)
20g.46011270G>TCA510751806MMP9c.777G>T (p.Thr259=)
dbSNP gnomAD v4
20g.46011271G>ACA409213830MMP9c.778G>A (p.Ala260Thr)
gnomAD v4
20g.46011271G>CCA409213832MMP9c.778G>C (p.Ala260Pro)
20g.46011271G>TCA409213833MMP9c.778G>T (p.Ala260Ser)
20g.46011272C>ACA409213835MMP9c.779C>A (p.Ala260Asp)
20g.46011272C>GCA409213839MMP9c.779C>G (p.Ala260Gly)
20g.46011272C>TCA409213840MMP9c.779C>T (p.Ala260Val)
gnomAD v4
20g.46011273C>ACA510751807MMP9c.780C>A (p.Ala260=)
20g.46011273C>GCA510751808MMP9c.780C>G (p.Ala260=)
20g.46011273C>TCA510751809MMP9c.780C>T (p.Ala260=)
20g.46011274A>CCA409213841MMP9c.781A>C (p.Asn261His)
20g.46011274A>GCA409213842MMP9c.781A>G (p.Asn261Asp)
20g.46011274A>TCA409213843MMP9c.781A>T (p.Asn261Tyr)
20g.46011275A=CA2366478705MMP9c.782A= (p.Asn261=)
20g.46011275A>CCA9886503MMP9c.782A>C (p.Asn261Thr)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.46011275A>GCA9886502MMP9c.782A>G (p.Asn261Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.46011275A>TCA409213855MMP9c.782A>T (p.Asn261Ile)
20g.46011276C>ACA409213864MMP9c.783C>A (p.Asn261Lys)
20g.46011276C=CA2366478706MMP9c.783C= (p.Asn261=)
20g.46011276C>GCA409213866MMP9c.783C>G (p.Asn261Lys)
dbSNP gnomAD v3 gnomAD v4
20g.46011276C>TCA510751810MMP9c.783C>T (p.Asn261=)
20g.46011277T>ACA409213867MMP9c.784T>A (p.Tyr262Asn)
20g.46011277T>CCA9886504MMP9c.784T>C (p.Tyr262His)
dbSNP ExAC gnomAD v2 gnomAD v4
20g.46011277T>GCA409213868MMP9c.784T>G (p.Tyr262Asp)
20g.46011277T=CA2366478707MMP9c.784T= (p.Tyr262=)
20g.46011278A=CA2366478708MMP9c.785A= (p.Tyr262=)
20g.46011278A>CCA409213874MMP9c.785A>C (p.Tyr262Ser)
20g.46011278A>GCA9886505MMP9c.785A>G (p.Tyr262Cys)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.46011278A>TCA409213869MMP9c.785A>T (p.Tyr262Phe)
20g.46011279C>ACA409213883MMP9c.786C>A (p.Tyr262Ter)
gnomAD v4
20g.46011279C=CA2366478709MMP9c.786C= (p.Tyr262=)
20g.46011279C>GCA409213888MMP9c.786C>G (p.Tyr262Ter)
20g.46011279C>TCA9886506MMP9c.786C>T (p.Tyr262=)
dbSNP ExAC gnomAD v2 gnomAD v4
20g.46011280G>ACA409213893MMP9c.787G>A (p.Asp263Asn)
20g.46011280G>CCA409213895MMP9c.787G>C (p.Asp263His)
20g.46011280G>TCA409213896MMP9c.787G>T (p.Asp263Tyr)
gnomAD v4
20g.46011281A>CCA409213897MMP9c.788A>C (p.Asp263Ala)
20g.46011281A>GCA409213899MMP9c.788A>G (p.Asp263Gly)
20g.46011281A>TCA409213898MMP9c.788A>T (p.Asp263Val)
gnomAD v4
20g.46011283_46011284delCA1017938998MMP9c.790_791del (p.Thr264ArgfsTer20)
dbSNP gnomAD v3 gnomAD v4
20g.46011282C>ACA409213900MMP9c.789C>A (p.Asp263Glu)
gnomAD v4
20g.46011282C=CA2366478710MMP9c.789C= (p.Asp263=)
20g.46011282C>GCA409213901MMP9c.789C>G (p.Asp263Glu)
20g.46011282C>TCA510751811MMP9c.789C>T (p.Asp263=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.46011283A>CCA409213903MMP9c.790A>C (p.Thr264Pro)
20g.46011283A>GCA409213905MMP9c.790A>G (p.Thr264Ala)
gnomAD v4
20g.46011283A>TCA409213909MMP9c.790A>T (p.Thr264Ser)
20g.46011284C>ACA409213912MMP9c.791C>A (p.Thr264Asn)
COSMIC
20g.46011284C>GCA409213914MMP9c.791C>G (p.Thr264Ser)
20g.46011284C>TCA409213915MMP9c.791C>T (p.Thr264Ile)
20g.46011285C>ACA510751812MMP9c.792C>A (p.Thr264=)
20g.46011285C>GCA510751813MMP9c.792C>G (p.Thr264=)
20g.46011285C>TCA510751814MMP9c.792C>T (p.Thr264=)
gnomAD v4
20g.46011286G>ACA409213919MMP9c.793G>A (p.Asp265Asn)
dbSNP gnomAD v2 gnomAD v4
20g.46011286G>CCA409213923MMP9c.793G>C (p.Asp265His)
20g.46011286G=CA2366478711MMP9c.793G= (p.Asp265=)
20g.46011286G>TCA409213945MMP9c.793G>T (p.Asp265Tyr)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.46011286_46011287insGGCA1017939005MMP9c.793_794insGG (p.Asp265GlyfsTer?)
dbSNP gnomAD v3 gnomAD v4
20g.46011287A>CCA409213947MMP9c.794A>C (p.Asp265Ala)
20g.46011287A>GCA409213949MMP9c.794A>G (p.Asp265Gly)
20g.46011287A>TCA409213948MMP9c.794A>T (p.Asp265Val)
20g.46011288C>ACA409213952MMP9c.795C>A (p.Asp265Glu)
20g.46011288C=CA2366478712MMP9c.795C= (p.Asp265=)
20g.46011288C>GCA409213965MMP9c.795C>G (p.Asp265Glu)
20g.46011288C>TCA9886507MMP9c.795C>T (p.Asp265=)
dbSNP ExAC gnomAD v3 gnomAD v4
20g.46011289G>ACA409213967MMP9c.796G>A (p.Asp266Asn)
dbSNP gnomAD v3 gnomAD v4 COSMIC
20g.46011289G>CCA409213969MMP9c.796G>C (p.Asp266His)
20g.46011289G=CA2366478713MMP9c.796G= (p.Asp266=)
20g.46011289G>TCA409213972MMP9c.796G>T (p.Asp266Tyr)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.46011290A>CCA409213976MMP9c.797A>C (p.Asp266Ala)
20g.46011290A>GCA409213982MMP9c.797A>G (p.Asp266Gly)
20g.46011290A>TCA409213984MMP9c.797A>T (p.Asp266Val)
20g.46011291C>ACA409213992MMP9c.798C>A (p.Asp266Glu)
20g.46011291C>GCA409214005MMP9c.798C>G (p.Asp266Glu)
dbSNP gnomAD v3 gnomAD v4
20g.46011291C>TCA510751815MMP9c.798C>T (p.Asp266=)
20g.46011292delCA2577205892MMP9c.799del (p.Arg267GlyfsTer?)
20g.46011292C>ACA510751816MMP9c.799C>A (p.Arg267=)
gnomAD v4
20g.46011292C>GCA409214009MMP9c.799C>G (p.Arg267Gly)
20g.46011292C>TCA409214015MMP9c.799C>T (p.Arg267Trp)
20g.46011292_46011293delinsCGCA2366478714MMP9c.799_800delinsCG (p.Arg267=)
20g.46011293G>ACA409214018MMP9c.800G>A (p.Arg267Gln)
20g.46011293G>CCA409214017MMP9c.800G>C (p.Arg267Pro)
COSMIC
20g.46011293G>TCA409214016MMP9c.800G>T (p.Arg267Leu)
dbSNP gnomAD v3 gnomAD v4
20g.46011294delCA9886508MMP9c.801del (p.Phe268LeufsTer?)
dbSNP ExAC gnomAD v2 gnomAD v4
20g.46011294G>ACA510751818MMP9c.801G>A (p.Arg267=)
gnomAD v4
20g.46011294G>CCA510751817MMP9c.801G>C (p.Arg267=)
dbSNP gnomAD v3 gnomAD v4
20g.46011294G>TCA510751819MMP9c.801G>T (p.Arg267=)
20g.46011295T>ACA409214019MMP9c.802T>A (p.Phe268Ile)
20g.46011295T>CCA409214021MMP9c.802T>C (p.Phe268Leu)
20g.46011295T>GCA409214026MMP9c.802T>G (p.Phe268Val)
20g.46011296T>ACA409214029MMP9c.803T>A (p.Phe268Tyr)
20g.46011296T>CCA409214031MMP9c.803T>C (p.Phe268Ser)
20g.46011296T>GCA409214034MMP9c.803T>G (p.Phe268Cys)
20g.46011297T>ACA409214037MMP9c.804T>A (p.Phe268Leu)
20g.46011297T>CCA510751820MMP9c.804T>C (p.Phe268=)
dbSNP gnomAD v3 gnomAD v4
20g.46011297T>GCA409214038MMP9c.804T>G (p.Phe268Leu)
20g.46011298G>ACA409214039MMP9c.805G>A (p.Gly269Ser)
20g.46011298G>CCA409214040MMP9c.805G>C (p.Gly269Arg)
20g.46011298G>TCA409214041MMP9c.805G>T (p.Gly269Cys)
gnomAD v4
20g.46011299G>ACA409214048MMP9c.806G>A (p.Gly269Asp)
gnomAD v4
20g.46011299G>CCA409214044MMP9c.806G>C (p.Gly269Ala)
20g.46011299G>TCA409214042MMP9c.806G>T (p.Gly269Val)
20g.46011300C>ACA510751821MMP9c.807C>A (p.Gly269=)
20g.46011300C>GCA510751822MMP9c.807C>G (p.Gly269=)
20g.46011300C>TCA510751823MMP9c.807C>T (p.Gly269=)
gnomAD v4
20g.46011301T>ACA409214051MMP9c.808T>A (p.Phe270Ile)
20g.46011301T>CCA409214052MMP9c.808T>C (p.Phe270Leu)
20g.46011301T>GCA409214053MMP9c.808T>G (p.Phe270Val)
20g.46011302T>ACA409214059MMP9c.809T>A (p.Phe270Tyr)
20g.46011302T>CCA409214063MMP9c.809T>C (p.Phe270Ser)
gnomAD v4
20g.46011302T>GCA409214066MMP9c.809T>G (p.Phe270Cys)
20g.46011303C>ACA409214069MMP9c.810C>A (p.Phe270Leu)
20g.46011303C=CA2366478715MMP9c.810C= (p.Phe270=)
20g.46011303C>GCA409214077MMP9c.810C>G (p.Phe270Leu)
20g.46011303C>TCA510751824MMP9c.810C>T (p.Phe270=)
dbSNP gnomAD v2 gnomAD v4
20g.46011304T>ACA409214079MMP9c.811T>A (p.Cys271Ser)
dbSNP
20g.46011304T>CCA409214081MMP9c.811T>C (p.Cys271Arg)
20g.46011304T>GCA409214082MMP9c.811T>G (p.Cys271Gly)
20g.46011304T=CA2366478716MMP9c.811T= (p.Cys271=)
20g.46011305G>ACA409214084MMP9c.812G>A (p.Cys271Tyr)
dbSNP gnomAD v3 gnomAD v4
20g.46011305G>CCA409214089MMP9c.812G>C (p.Cys271Ser)
20g.46011305G=CA2366478717MMP9c.812G= (p.Cys271=)
20g.46011305G>TCA409214091MMP9c.812G>T (p.Cys271Phe)
gnomAD v4
20g.46011306C>ACA409214105MMP9c.813C>A (p.Cys271Ter)
gnomAD v4
20g.46011306C>GCA409214107MMP9c.813C>G (p.Cys271Trp)
20g.46011306C>TCA510751825MMP9c.813C>T (p.Cys271=)
gnomAD v4
20g.46011309delCA2653118301MMP9c.816del (p.Ser273AlafsTer?)
gnomAD v4
20g.46011307C>ACA409214109MMP9c.814C>A (p.Pro272Thr)
20g.46011307C>GCA409214113MMP9c.814C>G (p.Pro272Ala)
20g.46011307C>TCA409214116MMP9c.814C>T (p.Pro272Ser)
20g.46011308C>ACA409214121MMP9c.815C>A (p.Pro272His)
gnomAD v4
20g.46011308C=CA2366478718MMP9c.815C= (p.Pro272=)
20g.46011308C>GCA409214125MMP9c.815C>G (p.Pro272Arg)
gnomAD v4
20g.46011308C>TCA409214126MMP9c.815C>T (p.Pro272Leu)
dbSNP gnomAD v4
20g.46011309C>ACA510751826MMP9c.816C>A (p.Pro272=)
20g.46011309C>GCA510751827MMP9c.816C>G (p.Pro272=)
20g.46011309C>TCA510751828MMP9c.816C>T (p.Pro272=)
20g.46011310A>CCA409214127MMP9c.817A>C (p.Ser273Arg)
20g.46011310A>GCA409214130MMP9c.817A>G (p.Ser273Gly)
20g.46011310A>TCA409214138MMP9c.817A>T (p.Ser273Cys)
gnomAD v4 COSMIC
20g.46011311G>ACA409214142MMP9c.818G>A (p.Ser273Asn)
20g.46011311G>CCA409214146MMP9c.818G>C (p.Ser273Thr)
20g.46011311G=CA2366478719MMP9c.818G= (p.Ser273=)
20g.46011311G>TCA9886509MMP9c.818G>T (p.Ser273Ile)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
20g.46011312C>ACA409214152MMP9c.819C>A (p.Ser273Arg)
gnomAD v4
20g.46011312C>GCA409214149MMP9c.819C>G (p.Ser273Arg)
ClinVar dbSNP
20g.46011312C>TCA510751829MMP9c.819C>T (p.Ser273=)
gnomAD v4
20g.46011312_46011314delinsCGACA2366478720MMP9c.819_821delinsCGA (p.Ser273=)
20g.46011313G>ACA9886510MMP9c.820G>A (p.Glu274Lys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.46011313G>CCA409214171MMP9c.820G>C (p.Glu274Gln)
20g.46011313G=CA2366478722MMP9c.820G= (p.Glu274=)
20g.46011313G>TCA409214166MMP9c.820G>T (p.Glu274Ter)
gnomAD v4
20g.46011316_46011317delCA2366478721MMP9c.823_823+1del
dbSNP
20g.46011314A>CCA409214172MMP9c.821A>C (p.Glu274Ala)
20g.46011314A>GCA409214176MMP9c.821A>G (p.Glu274Gly)
20g.46011314A>TCA409214175MMP9c.821A>T (p.Glu274Val)
20g.46011314_46011318delinsAGAGTCA2366478723MMP9c.821_823+2delinsAGAGT
20g.46011315G>ACA510751830MMP9c.822G>A (p.Glu274=)
20g.46011315G>CCA9886511MMP9c.822G>C (p.Glu274Asp)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.46011315G=CA2366478724MMP9c.822G= (p.Glu274=)
20g.46011315G>TCA409214220MMP9c.822G>T (p.Glu274Asp)
gnomAD v4
20g.46011322_46011325delCA1017939014MMP9c.823+6_823+9del
dbSNP gnomAD v3 gnomAD v4
20g.46011316A>CCA510751831MMP9c.823A>C (p.Arg275=)
gnomAD v4
20g.46011316A>GCA409214224MMP9c.823A>G (p.Arg275Gly)
20g.46011316A>TCA409214226MMP9c.823A>T (p.Arg275Ter)
20g.46011316_46011322delinsAGTGAGTCA2366478725MMP9c.823_823+6delinsAGTGAGT
20g.46011317G>ACA409214228MMP9c.823+1G>A (n.823+1G>A)
dbSNP COSMIC
20g.46011317G>CCA409214229MMP9c.823+1G>C (n.823+1G>C)
20g.46011317G=CA2366478726MMP9c.823+1G= (n.823+1G=)
20g.46011317G>TCA409214230MMP9c.823+1G>T (n.823+1G>T)
20g.46011318_46011323delCA9886512MMP9c.823+2_823+7del (n.823+2_823+7del)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.46011318T>ACA9886513MMP9c.823+2T>A (n.823+2T>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.46011318T>CCA409214233MMP9c.823+2T>C (n.823+2T>C)
dbSNP gnomAD v4
20g.46011318T>GCA409214236MMP9c.823+2T>G (n.823+2T>G)
dbSNP
20g.46011318T=CA2366478727MMP9c.823+2T= (n.823+2T=)
20g.46011319G>ACA636176584MMP9c.823+3G>A (n.823+3G>A)
dbSNP gnomAD v2 gnomAD v4
20g.46011319G=CA2366478728MMP9c.823+3G= (n.823+3G=)
20g.46011320A=CA2366478729MMP9c.823+4A= (n.823+4A=)
20g.46011320A>TCA2366478730MMP9c.823+4A>T (n.823+4A>T)
dbSNP gnomAD v4
20g.46011321G>ACA2816507444MMP9c.823+5G>A (n.823+5G>A)
20g.46011321G>TCA2653118334MMP9c.823+5G>T (n.823+5G>T)
gnomAD v4
20g.46011322T>GCA2366478732MMP9c.823+6T>G (n.823+6T>G)
dbSNP
20g.46011322T=CA2366478731MMP9c.823+6T= (n.823+6T=)
20g.46011323G>ACA2653118338MMP9c.823+7G>A (n.823+7G>A)
gnomAD v4
20g.46011323G>TCA2653118339MMP9c.823+7G>T (n.823+7G>T)
gnomAD v4
20g.46011324A>TCA2736979240MMP9c.823+8A>T (n.823+8A>T)
dbSNP
20g.46011324_46011325delinsAGCA2366478733MMP9c.823+8_823+9delinsAG (n.823+8_823+9delinsAG)
20g.46011325G>ACA2653118346MMP9c.823+9G>A (n.823+9G>A)
gnomAD v4
20g.46011325G>TCA2653118345MMP9c.823+9G>T (n.823+9G>T)
gnomAD v4
20g.46011329dupCA9886515MMP9c.823+13dup (n.823+13dup)
dbSNP ExAC gnomAD v2 gnomAD v4
20g.46011329delCA9886514MMP9c.823+13del (n.823+13del)
dbSNP ExAC gnomAD v2 gnomAD v4
20g.46011328_46011329delCA2653118348MMP9c.823+12_823+13del (n.823+12_823+13del)
gnomAD v4
20g.46011326G>TCA2653118354MMP9c.823+10G>T (n.823+10G>T)
gnomAD v4
20g.46011327G>ACA2530326186MMP9c.823+11G>A (n.823+11G>A)
20g.46011328G>ACA9886516MMP9c.823+12G>A (n.823+12G>A)
dbSNP ExAC gnomAD v2 gnomAD v4
20g.46011328G=CA2366478734MMP9c.823+12G= (n.823+12G=)

Number of alleles fetched