Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.7663435dupCA2643031704CAMTA1c.888dup (p.Tyr297ValfsTer11)
c.*739dup (n.*739dup)
c.798dup (p.Tyr267ValfsTer11)
c.816dup (p.Tyr273ValfsTer11)
c.*657dup (n.*657dup)
c.876dup (p.Tyr293ValfsTer11)
gnomAD v4
1g.7663435delCA416026370CAMTA1c.888del (p.Tyr297ThrfsTer?)
c.*739del (n.*739del)
c.798del (p.Tyr267ThrfsTer?)
c.816del (p.Tyr273ThrfsTer?)
c.*657del (n.*657del)
c.876del (p.Tyr293ThrfsTer?)
gnomAD v4 COSMIC
1g.7663435G>ACA566317CAMTA1c.888G>A (p.Gly296=)
c.*739G>A (n.*739G>A)
c.798G>A (p.Gly266=)
c.816G>A (p.Gly272=)
c.*657G>A (n.*657G>A)
c.876G>A (p.Gly292=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.7663435G>CCA416026374CAMTA1c.888G>C (p.Gly296=)
c.*739G>C (n.*739G>C)
c.798G>C (p.Gly266=)
c.816G>C (p.Gly272=)
c.*657G>C (n.*657G>C)
c.876G>C (p.Gly292=)
gnomAD v4
1g.7663435G=CA1152023619CAMTA1c.888G= (p.Gly296=)
c.*739G= (n.*739G=)
c.798G= (p.Gly266=)
c.816G= (p.Gly272=)
c.*657G= (n.*657G=)
c.876G= (p.Gly292=)
1g.7663435G>TCA416026375CAMTA1c.888G>T (p.Gly296=)
c.*739G>T (n.*739G>T)
c.798G>T (p.Gly266=)
c.816G>T (p.Gly272=)
c.*657G>T (n.*657G>T)
c.876G>T (p.Gly292=)
gnomAD v4
1g.7663436T>ACA338121768CAMTA1c.889T>A (p.Tyr297Asn)
c.*740T>A (n.*740T>A)
c.799T>A (p.Tyr267Asn)
c.817T>A (p.Tyr273Asn)
c.*658T>A (n.*658T>A)
c.877T>A (p.Tyr293Asn)
1g.7663436T>CCA338121772CAMTA1c.889T>C (p.Tyr297His)
c.*740T>C (n.*740T>C)
c.799T>C (p.Tyr267His)
c.817T>C (p.Tyr273His)
c.*658T>C (n.*658T>C)
c.877T>C (p.Tyr293His)
gnomAD v4
1g.7663436T>GCA338121770CAMTA1c.889T>G (p.Tyr297Asp)
c.*740T>G (n.*740T>G)
c.799T>G (p.Tyr267Asp)
c.817T>G (p.Tyr273Asp)
c.*658T>G (n.*658T>G)
c.877T>G (p.Tyr293Asp)
1g.7663437A=CA1152023620CAMTA1c.890A= (p.Tyr297=)
c.*741A= (n.*741A=)
c.800A= (p.Tyr267=)
c.818A= (p.Tyr273=)
c.*659A= (n.*659A=)
c.878A= (p.Tyr293=)
1g.7663437A>CCA338121774CAMTA1c.890A>C (p.Tyr297Ser)
c.*741A>C (n.*741A>C)
c.800A>C (p.Tyr267Ser)
c.818A>C (p.Tyr273Ser)
c.*659A>C (n.*659A>C)
c.878A>C (p.Tyr293Ser)
1g.7663437A>GCA566318CAMTA1c.890A>G (p.Tyr297Cys)
c.*741A>G (n.*741A>G)
c.800A>G (p.Tyr267Cys)
c.818A>G (p.Tyr273Cys)
c.*659A>G (n.*659A>G)
c.878A>G (p.Tyr293Cys)
dbSNP ExAC
1g.7663437A>TCA338121776CAMTA1c.890A>T (p.Tyr297Phe)
c.*741A>T (n.*741A>T)
c.800A>T (p.Tyr267Phe)
c.818A>T (p.Tyr273Phe)
c.*659A>T (n.*659A>T)
c.878A>T (p.Tyr293Phe)
1g.7663438C>ACA338121781CAMTA1c.891C>A (p.Tyr297Ter)
c.*742C>A (n.*742C>A)
c.801C>A (p.Tyr267Ter)
c.819C>A (p.Tyr273Ter)
c.*660C>A (n.*660C>A)
c.879C>A (p.Tyr293Ter)
gnomAD v4
1g.7663438C=CA1152023621CAMTA1c.891C= (p.Tyr297=)
c.*742C= (n.*742C=)
c.801C= (p.Tyr267=)
c.819C= (p.Tyr273=)
c.*660C= (n.*660C=)
c.879C= (p.Tyr293=)
1g.7663438C>GCA566319CAMTA1c.891C>G (p.Tyr297Ter)
c.*742C>G (n.*742C>G)
c.801C>G (p.Tyr267Ter)
c.819C>G (p.Tyr273Ter)
c.*660C>G (n.*660C>G)
c.879C>G (p.Tyr293Ter)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.7663438C>TCA566320CAMTA1c.891C>T (p.Tyr297=)
c.*742C>T (n.*742C>T)
c.801C>T (p.Tyr267=)
c.819C>T (p.Tyr273=)
c.*660C>T (n.*660C>T)
c.879C>T (p.Tyr293=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.7663439G>ACA566321CAMTA1c.892G>A (p.Gly298Arg)
c.*743G>A (n.*743G>A)
c.802G>A (p.Gly268Arg)
c.820G>A (p.Gly274Arg)
c.*661G>A (n.*661G>A)
c.880G>A (p.Gly294Arg)
dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
1g.7663439G>CCA338121783CAMTA1c.892G>C (p.Gly298Arg)
c.*743G>C (n.*743G>C)
c.802G>C (p.Gly268Arg)
c.820G>C (p.Gly274Arg)
c.*661G>C (n.*661G>C)
c.880G>C (p.Gly294Arg)
1g.7663439G=CA1152023622CAMTA1c.892G= (p.Gly298=)
c.*743G= (n.*743G=)
c.802G= (p.Gly268=)
c.820G= (p.Gly274=)
c.*661G= (n.*661G=)
c.880G= (p.Gly294=)
1g.7663439G>TCA338121784CAMTA1c.892G>T (p.Gly298Trp)
c.*743G>T (n.*743G>T)
c.802G>T (p.Gly268Trp)
c.820G>T (p.Gly274Trp)
c.*661G>T (n.*661G>T)
c.880G>T (p.Gly294Trp)
gnomAD v4
1g.7663440G>ACA16603758CAMTA1c.893G>A (p.Gly298Glu)
c.*744G>A (n.*744G>A)
c.803G>A (p.Gly268Glu)
c.821G>A (p.Gly274Glu)
c.*662G>A (n.*662G>A)
c.881G>A (p.Gly294Glu)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.7663440G>CCA338121788CAMTA1c.893G>C (p.Gly298Ala)
c.*744G>C (n.*744G>C)
c.803G>C (p.Gly268Ala)
c.821G>C (p.Gly274Ala)
c.*662G>C (n.*662G>C)
c.881G>C (p.Gly294Ala)
1g.7663440G=CA1152023623CAMTA1c.893G= (p.Gly298=)
c.*744G= (n.*744G=)
c.803G= (p.Gly268=)
c.821G= (p.Gly274=)
c.*662G= (n.*662G=)
c.881G= (p.Gly294=)
1g.7663440G>TCA338121791CAMTA1c.893G>T (p.Gly298Val)
c.*744G>T (n.*744G>T)
c.803G>T (p.Gly268Val)
c.821G>T (p.Gly274Val)
c.*662G>T (n.*662G>T)
c.881G>T (p.Gly294Val)
dbSNP gnomAD v2 gnomAD v4
1g.7663441G>ACA566322CAMTA1c.894G>A (p.Gly298=)
c.*745G>A (n.*745G>A)
c.804G>A (p.Gly268=)
c.822G>A (p.Gly274=)
c.*663G>A (n.*663G>A)
c.882G>A (p.Gly294=)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.7663441G>CCA416026377CAMTA1c.894G>C (p.Gly298=)
c.*745G>C (n.*745G>C)
c.804G>C (p.Gly268=)
c.822G>C (p.Gly274=)
c.*663G>C (n.*663G>C)
c.882G>C (p.Gly294=)
COSMIC
1g.7663441G=CA1152023624CAMTA1c.894G= (p.Gly298=)
c.*745G= (n.*745G=)
c.804G= (p.Gly268=)
c.822G= (p.Gly274=)
c.*663G= (n.*663G=)
c.882G= (p.Gly294=)
1g.7663441G>TCA416026376CAMTA1c.894G>T (p.Gly298=)
c.*745G>T (n.*745G>T)
c.804G>T (p.Gly268=)
c.822G>T (p.Gly274=)
c.*663G>T (n.*663G>T)
c.882G>T (p.Gly294=)
dbSNP gnomAD v2 gnomAD v4
1g.7663442A>CCA338121794CAMTA1c.895A>C (p.Ser299Arg)
c.*746A>C (n.*746A>C)
c.805A>C (p.Ser269Arg)
c.823A>C (p.Ser275Arg)
c.*664A>C (n.*664A>C)
c.883A>C (p.Ser295Arg)
1g.7663442A>GCA338121797CAMTA1c.895A>G (p.Ser299Gly)
c.*746A>G (n.*746A>G)
c.805A>G (p.Ser269Gly)
c.823A>G (p.Ser275Gly)
c.*664A>G (n.*664A>G)
c.883A>G (p.Ser295Gly)
gnomAD v4
1g.7663442A>TCA338121799CAMTA1c.895A>T (p.Ser299Cys)
c.*746A>T (n.*746A>T)
c.805A>T (p.Ser269Cys)
c.823A>T (p.Ser275Cys)
c.*664A>T (n.*664A>T)
c.883A>T (p.Ser295Cys)
1g.7663443G>ACA338121802CAMTA1c.896G>A (p.Ser299Asn)
c.*747G>A (n.*747G>A)
c.806G>A (p.Ser269Asn)
c.824G>A (p.Ser275Asn)
c.*665G>A (n.*665G>A)
c.884G>A (p.Ser295Asn)
gnomAD v4
1g.7663443G>CCA338121805CAMTA1c.896G>C (p.Ser299Thr)
c.*747G>C (n.*747G>C)
c.806G>C (p.Ser269Thr)
c.824G>C (p.Ser275Thr)
c.*665G>C (n.*665G>C)
c.884G>C (p.Ser295Thr)
1g.7663443G=CA1152023625CAMTA1c.896G= (p.Ser299=)
c.*747G= (n.*747G=)
c.806G= (p.Ser269=)
c.824G= (p.Ser275=)
c.*665G= (n.*665G=)
c.884G= (p.Ser295=)
1g.7663443G>TCA338121807CAMTA1c.896G>T (p.Ser299Ile)
c.*747G>T (n.*747G>T)
c.806G>T (p.Ser269Ile)
c.824G>T (p.Ser275Ile)
c.*665G>T (n.*665G>T)
c.884G>T (p.Ser295Ile)
dbSNP gnomAD v2 gnomAD v4
1g.7663444C>ACA338121809CAMTA1c.897C>A (p.Ser299Arg)
c.*748C>A (n.*748C>A)
c.807C>A (p.Ser269Arg)
c.825C>A (p.Ser275Arg)
c.*666C>A (n.*666C>A)
c.885C>A (p.Ser295Arg)
gnomAD v4
1g.7663444C=CA1152023626CAMTA1c.897C= (p.Ser299=)
c.*748C= (n.*748C=)
c.807C= (p.Ser269=)
c.825C= (p.Ser275=)
c.*666C= (n.*666C=)
c.885C= (p.Ser295=)
1g.7663444C>GCA338121810CAMTA1c.897C>G (p.Ser299Arg)
c.*748C>G (n.*748C>G)
c.807C>G (p.Ser269Arg)
c.825C>G (p.Ser275Arg)
c.*666C>G (n.*666C>G)
c.885C>G (p.Ser295Arg)
1g.7663444C>TCA416026378CAMTA1c.897C>T (p.Ser299=)
c.*748C>T (n.*748C>T)
c.807C>T (p.Ser269=)
c.825C>T (p.Ser275=)
c.*666C>T (n.*666C>T)
c.885C>T (p.Ser295=)
dbSNP gnomAD v2 gnomAD v4
1g.7663445C>ACA338121814CAMTA1c.898C>A (p.His300Asn)
c.*749C>A (n.*749C>A)
c.808C>A (p.His270Asn)
c.826C>A (p.His276Asn)
c.*667C>A (n.*667C>A)
c.886C>A (p.His296Asn)
1g.7663445C>GCA338121817CAMTA1c.898C>G (p.His300Asp)
c.*749C>G (n.*749C>G)
c.808C>G (p.His270Asp)
c.826C>G (p.His276Asp)
c.*667C>G (n.*667C>G)
c.886C>G (p.His296Asp)
1g.7663445C>TCA338121821CAMTA1c.898C>T (p.His300Tyr)
c.*749C>T (n.*749C>T)
c.808C>T (p.His270Tyr)
c.826C>T (p.His276Tyr)
c.*667C>T (n.*667C>T)
c.886C>T (p.His296Tyr)
gnomAD v4
1g.7663446A>CCA338121823CAMTA1c.899A>C (p.His300Pro)
c.*750A>C (n.*750A>C)
c.809A>C (p.His270Pro)
c.827A>C (p.His276Pro)
c.*668A>C (n.*668A>C)
c.887A>C (p.His296Pro)
1g.7663446A>GCA338121824CAMTA1c.899A>G (p.His300Arg)
c.*750A>G (n.*750A>G)
c.809A>G (p.His270Arg)
c.827A>G (p.His276Arg)
c.*668A>G (n.*668A>G)
c.887A>G (p.His296Arg)
1g.7663446A>TCA338121825CAMTA1c.899A>T (p.His300Leu)
c.*750A>T (n.*750A>T)
c.809A>T (p.His270Leu)
c.827A>T (p.His276Leu)
c.*668A>T (n.*668A>T)
c.887A>T (p.His296Leu)
gnomAD v4
1g.7663447C>ACA338121826CAMTA1c.900C>A (p.His300Gln)
c.*751C>A (n.*751C>A)
c.810C>A (p.His270Gln)
c.828C>A (p.His276Gln)
c.*669C>A (n.*669C>A)
c.888C>A (p.His296Gln)
gnomAD v4
1g.7663447C>GCA338121827CAMTA1c.900C>G (p.His300Gln)
c.*751C>G (n.*751C>G)
c.810C>G (p.His270Gln)
c.828C>G (p.His276Gln)
c.*669C>G (n.*669C>G)
c.888C>G (p.His296Gln)
1g.7663447C>TCA416026379CAMTA1c.900C>T (p.His300=)
c.*751C>T (n.*751C>T)
c.810C>T (p.His270=)
c.828C>T (p.His276=)
c.*669C>T (n.*669C>T)
c.888C>T (p.His296=)
1g.7663448T>ACA338121828CAMTA1c.901T>A (p.Ser301Thr)
c.*752T>A (n.*752T>A)
c.811T>A (p.Ser271Thr)
c.829T>A (p.Ser277Thr)
c.*670T>A (n.*670T>A)
c.889T>A (p.Ser297Thr)
1g.7663448T>CCA338121829CAMTA1c.901T>C (p.Ser301Pro)
c.*752T>C (n.*752T>C)
c.811T>C (p.Ser271Pro)
c.829T>C (p.Ser277Pro)
c.*670T>C (n.*670T>C)
c.889T>C (p.Ser297Pro)
1g.7663448T>GCA338121833CAMTA1c.901T>G (p.Ser301Ala)
c.*752T>G (n.*752T>G)
c.811T>G (p.Ser271Ala)
c.829T>G (p.Ser277Ala)
c.*670T>G (n.*670T>G)
c.889T>G (p.Ser297Ala)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.7663448T=CA1152023627CAMTA1c.901T= (p.Ser301=)
c.*752T= (n.*752T=)
c.811T= (p.Ser271=)
c.829T= (p.Ser277=)
c.*670T= (n.*670T=)
c.889T= (p.Ser297=)
1g.7663449C>ACA338121840CAMTA1c.902C>A (p.Ser301Ter)
c.*753C>A (n.*753C>A)
c.812C>A (p.Ser271Ter)
c.830C>A (p.Ser277Ter)
c.*671C>A (n.*671C>A)
c.890C>A (p.Ser297Ter)
gnomAD v4
1g.7663449C=CA1148233100CAMTA1c.902C= (p.Ser301=)
c.*753C= (n.*753C=)
c.812C= (p.Ser271=)
c.830C= (p.Ser277=)
c.*671C= (n.*671C=)
c.890C= (p.Ser297=)
1g.7663449C>GCA566323CAMTA1c.902C>G (p.Ser301Trp)
c.*753C>G (n.*753C>G)
c.812C>G (p.Ser271Trp)
c.830C>G (p.Ser277Trp)
c.*671C>G (n.*671C>G)
c.890C>G (p.Ser297Trp)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.7663449C>TCA338121841CAMTA1c.902C>T (p.Ser301Leu)
c.*753C>T (n.*753C>T)
c.812C>T (p.Ser271Leu)
c.830C>T (p.Ser277Leu)
c.*671C>T (n.*671C>T)
c.890C>T (p.Ser297Leu)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.7663450G>ACA566325CAMTA1c.903G>A (p.Ser301=)
c.*754G>A (n.*754G>A)
c.813G>A (p.Ser271=)
c.831G>A (p.Ser277=)
c.*672G>A (n.*672G>A)
c.891G>A (p.Ser297=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.7663450G>CCA566324CAMTA1c.903G>C (p.Ser301=)
c.*754G>C (n.*754G>C)
c.813G>C (p.Ser271=)
c.831G>C (p.Ser277=)
c.*672G>C (n.*672G>C)
c.891G>C (p.Ser297=)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.7663450G=CA1144105843CAMTA1c.903G= (p.Ser301=)
c.*754G= (n.*754G=)
c.813G= (p.Ser271=)
c.831G= (p.Ser277=)
c.*672G= (n.*672G=)
c.891G= (p.Ser297=)
1g.7663450G>TCA416026380CAMTA1c.903G>T (p.Ser301=)
c.*754G>T (n.*754G>T)
c.813G>T (p.Ser271=)
c.831G>T (p.Ser277=)
c.*672G>T (n.*672G>T)
c.891G>T (p.Ser297=)
gnomAD v4
1g.7663451G>ACA338121844CAMTA1c.904G>A (p.Glu302Lys)
c.*755G>A (n.*755G>A)
c.814G>A (p.Glu272Lys)
c.832G>A (p.Glu278Lys)
c.*673G>A (n.*673G>A)
c.892G>A (p.Glu298Lys)
1g.7663451G>CCA338121847CAMTA1c.904G>C (p.Glu302Gln)
c.*755G>C (n.*755G>C)
c.814G>C (p.Glu272Gln)
c.832G>C (p.Glu278Gln)
c.*673G>C (n.*673G>C)
c.892G>C (p.Glu298Gln)
1g.7663451G>TCA338121849CAMTA1c.904G>T (p.Glu302Ter)
c.*755G>T (n.*755G>T)
c.814G>T (p.Glu272Ter)
c.832G>T (p.Glu278Ter)
c.*673G>T (n.*673G>T)
c.892G>T (p.Glu298Ter)
1g.7663452A>CCA338121852CAMTA1c.905A>C (p.Glu302Ala)
c.*756A>C (n.*756A>C)
c.815A>C (p.Glu272Ala)
c.833A>C (p.Glu278Ala)
c.*674A>C (n.*674A>C)
c.893A>C (p.Glu298Ala)
1g.7663452A>GCA338121855CAMTA1c.905A>G (p.Glu302Gly)
c.*756A>G (n.*756A>G)
c.815A>G (p.Glu272Gly)
c.833A>G (p.Glu278Gly)
c.*674A>G (n.*674A>G)
c.893A>G (p.Glu298Gly)
gnomAD v4
1g.7663452A>TCA338121857CAMTA1c.905A>T (p.Glu302Val)
c.*756A>T (n.*756A>T)
c.815A>T (p.Glu272Val)
c.833A>T (p.Glu278Val)
c.*674A>T (n.*674A>T)
c.893A>T (p.Glu298Val)
1g.7663453G>ACA416026381CAMTA1c.906G>A (p.Glu302=)
c.*757G>A (n.*757G>A)
c.816G>A (p.Glu272=)
c.834G>A (p.Glu278=)
c.*675G>A (n.*675G>A)
c.894G>A (p.Glu298=)
gnomAD v4
1g.7663453G>CCA338121872CAMTA1c.906G>C (p.Glu302Asp)
c.*757G>C (n.*757G>C)
c.816G>C (p.Glu272Asp)
c.834G>C (p.Glu278Asp)
c.*675G>C (n.*675G>C)
c.894G>C (p.Glu298Asp)
1g.7663453G>TCA338121860CAMTA1c.906G>T (p.Glu302Asp)
c.*757G>T (n.*757G>T)
c.816G>T (p.Glu272Asp)
c.834G>T (p.Glu278Asp)
c.*675G>T (n.*675G>T)
c.894G>T (p.Glu298Asp)
1g.7663454G>ACA338121876CAMTA1c.907G>A (p.Val303Met)
c.*758G>A (n.*758G>A)
c.817G>A (p.Val273Met)
c.835G>A (p.Val279Met)
c.*676G>A (n.*676G>A)
c.895G>A (p.Val299Met)
gnomAD v4
1g.7663454G>CCA338121878CAMTA1c.907G>C (p.Val303Leu)
c.*758G>C (n.*758G>C)
c.817G>C (p.Val273Leu)
c.835G>C (p.Val279Leu)
c.*676G>C (n.*676G>C)
c.895G>C (p.Val299Leu)
1g.7663454G>TCA338121885CAMTA1c.907G>T (p.Val303Leu)
c.*758G>T (n.*758G>T)
c.817G>T (p.Val273Leu)
c.835G>T (p.Val279Leu)
c.*676G>T (n.*676G>T)
c.895G>T (p.Val299Leu)
1g.7663455T>ACA338121889CAMTA1c.908T>A (p.Val303Glu)
c.*759T>A (n.*759T>A)
c.818T>A (p.Val273Glu)
c.836T>A (p.Val279Glu)
c.*677T>A (n.*677T>A)
c.896T>A (p.Val299Glu)
1g.7663455T>CCA338121893CAMTA1c.908T>C (p.Val303Ala)
c.*759T>C (n.*759T>C)
c.818T>C (p.Val273Ala)
c.836T>C (p.Val279Ala)
c.*677T>C (n.*677T>C)
c.896T>C (p.Val299Ala)
gnomAD v4
1g.7663455T>GCA338121896CAMTA1c.908T>G (p.Val303Gly)
c.*759T>G (n.*759T>G)
c.818T>G (p.Val273Gly)
c.836T>G (p.Val279Gly)
c.*677T>G (n.*677T>G)
c.896T>G (p.Val299Gly)
dbSNP
1g.7663455T=CA1152023628CAMTA1c.908T= (p.Val303=)
c.*759T= (n.*759T=)
c.818T= (p.Val273=)
c.836T= (p.Val279=)
c.*677T= (n.*677T=)
c.896T= (p.Val299=)
1g.7663456G>ACA416026382CAMTA1c.909G>A (p.Val303=)
c.*760G>A (n.*760G>A)
c.819G>A (p.Val273=)
c.837G>A (p.Val279=)
c.*678G>A (n.*678G>A)
c.897G>A (p.Val299=)
dbSNP gnomAD v2 gnomAD v4
1g.7663456G>CCA416026383CAMTA1c.909G>C (p.Val303=)
c.*760G>C (n.*760G>C)
c.819G>C (p.Val273=)
c.837G>C (p.Val279=)
c.*678G>C (n.*678G>C)
c.897G>C (p.Val299=)
1g.7663456G=CA1152023629CAMTA1c.909G= (p.Val303=)
c.*760G= (n.*760G=)
c.819G= (p.Val273=)
c.837G= (p.Val279=)
c.*678G= (n.*678G=)
c.897G= (p.Val299=)
1g.7663456G>TCA416026384CAMTA1c.909G>T (p.Val303=)
c.*760G>T (n.*760G>T)
c.819G>T (p.Val273=)
c.837G>T (p.Val279=)
c.*678G>T (n.*678G>T)
c.897G>T (p.Val299=)
1g.7663457C>ACA338121905CAMTA1c.910C>A (p.Gln304Lys)
c.*761C>A (n.*761C>A)
c.820C>A (p.Gln274Lys)
c.838C>A (p.Gln280Lys)
c.*679C>A (n.*679C>A)
c.898C>A (p.Gln300Lys)
gnomAD v4
1g.7663457C=CA1152023630CAMTA1c.910C= (p.Gln304=)
c.*761C= (n.*761C=)
c.820C= (p.Gln274=)
c.838C= (p.Gln280=)
c.*679C= (n.*679C=)
c.898C= (p.Gln300=)
1g.7663457C>GCA338121900CAMTA1c.910C>G (p.Gln304Glu)
c.*761C>G (n.*761C>G)
c.820C>G (p.Gln274Glu)
c.838C>G (p.Gln280Glu)
c.*679C>G (n.*679C>G)
c.898C>G (p.Gln300Glu)
1g.7663457C>TCA17243904CAMTA1c.910C>T (p.Gln304Ter)
c.*761C>T (n.*761C>T)
c.820C>T (p.Gln274Ter)
c.838C>T (p.Gln280Ter)
c.*679C>T (n.*679C>T)
c.898C>T (p.Gln300Ter)
dbSNP gnomAD v4
1g.7663458A=CA1149061314CAMTA1c.911A= (p.Gln304=)
c.*762A= (n.*762A=)
c.821A= (p.Gln274=)
c.839A= (p.Gln280=)
c.*680A= (n.*680A=)
c.899A= (p.Gln300=)
1g.7663458A>CCA566326CAMTA1c.911A>C (p.Gln304Pro)
c.*762A>C (n.*762A>C)
c.821A>C (p.Gln274Pro)
c.839A>C (p.Gln280Pro)
c.*680A>C (n.*680A>C)
c.899A>C (p.Gln300Pro)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.7663458A>GCA338121910CAMTA1c.911A>G (p.Gln304Arg)
c.*762A>G (n.*762A>G)
c.821A>G (p.Gln274Arg)
c.839A>G (p.Gln280Arg)
c.*680A>G (n.*680A>G)
c.899A>G (p.Gln300Arg)
1g.7663458A>TCA338121912CAMTA1c.911A>T (p.Gln304Leu)
c.*762A>T (n.*762A>T)
c.821A>T (p.Gln274Leu)
c.839A>T (p.Gln280Leu)
c.*680A>T (n.*680A>T)
c.899A>T (p.Gln300Leu)
1g.7663459G>ACA17243911CAMTA1c.912G>A (p.Gln304=)
c.*763G>A (n.*763G>A)
c.822G>A (p.Gln274=)
c.840G>A (p.Gln280=)
c.*681G>A (n.*681G>A)
c.900G>A (p.Gln300=)
dbSNP gnomAD v4
1g.7663459G>CCA338121913CAMTA1c.912G>C (p.Gln304His)
c.*763G>C (n.*763G>C)
c.822G>C (p.Gln274His)
c.840G>C (p.Gln280His)
c.*681G>C (n.*681G>C)
c.900G>C (p.Gln300His)
1g.7663459G=CA1152023631CAMTA1c.912G= (p.Gln304=)
c.*763G= (n.*763G=)
c.822G= (p.Gln274=)
c.840G= (p.Gln280=)
c.*681G= (n.*681G=)
c.900G= (p.Gln300=)
1g.7663459G>TCA338121914CAMTA1c.912G>T (p.Gln304His)
c.*763G>T (n.*763G>T)
c.822G>T (p.Gln274His)
c.840G>T (p.Gln280His)
c.*681G>T (n.*681G>T)
c.900G>T (p.Gln300His)
1g.7663460C>ACA338121915CAMTA1c.913C>A (p.His305Asn)
c.*764C>A (n.*764C>A)
c.823C>A (p.His275Asn)
c.841C>A (p.His281Asn)
c.*682C>A (n.*682C>A)
c.901C>A (p.His301Asn)
gnomAD v4
1g.7663460C>GCA338121917CAMTA1c.913C>G (p.His305Asp)
c.*764C>G (n.*764C>G)
c.823C>G (p.His275Asp)
c.841C>G (p.His281Asp)
c.*682C>G (n.*682C>G)
c.901C>G (p.His301Asp)
1g.7663460C>TCA338121916CAMTA1c.913C>T (p.His305Tyr)
c.*764C>T (n.*764C>T)
c.823C>T (p.His275Tyr)
c.841C>T (p.His281Tyr)
c.*682C>T (n.*682C>T)
c.901C>T (p.His301Tyr)
gnomAD v4
1g.7663461A>CCA338121919CAMTA1c.914A>C (p.His305Pro)
c.*765A>C (n.*765A>C)
c.824A>C (p.His275Pro)
c.842A>C (p.His281Pro)
c.*683A>C (n.*683A>C)
c.902A>C (p.His301Pro)
1g.7663461A>GCA338121921CAMTA1c.914A>G (p.His305Arg)
c.*765A>G (n.*765A>G)
c.824A>G (p.His275Arg)
c.842A>G (p.His281Arg)
c.*683A>G (n.*683A>G)
c.902A>G (p.His301Arg)
1g.7663461A>TCA338121924CAMTA1c.914A>T (p.His305Leu)
c.*765A>T (n.*765A>T)
c.824A>T (p.His275Leu)
c.842A>T (p.His281Leu)
c.*683A>T (n.*683A>T)
c.902A>T (p.His301Leu)
1g.7663462C>ACA338121928CAMTA1c.915C>A (p.His305Gln)
c.*766C>A (n.*766C>A)
c.825C>A (p.His275Gln)
c.843C>A (p.His281Gln)
c.*684C>A (n.*684C>A)
c.903C>A (p.His301Gln)
gnomAD v4
1g.7663462C>GCA338121931CAMTA1c.915C>G (p.His305Gln)
c.*766C>G (n.*766C>G)
c.825C>G (p.His275Gln)
c.843C>G (p.His281Gln)
c.*684C>G (n.*684C>G)
c.903C>G (p.His301Gln)
1g.7663462C>TCA416026385CAMTA1c.915C>T (p.His305=)
c.*766C>T (n.*766C>T)
c.825C>T (p.His275=)
c.843C>T (p.His281=)
c.*684C>T (n.*684C>T)
c.903C>T (p.His301=)
1g.7663463A>CCA338121933CAMTA1c.916A>C (p.Asn306His)
c.*767A>C (n.*767A>C)
c.826A>C (p.Asn276His)
c.844A>C (p.Asn282His)
c.*685A>C (n.*685A>C)
c.904A>C (p.Asn302His)
1g.7663463A>GCA338121945CAMTA1c.916A>G (p.Asn306Asp)
c.*767A>G (n.*767A>G)
c.826A>G (p.Asn276Asp)
c.844A>G (p.Asn282Asp)
c.*685A>G (n.*685A>G)
c.904A>G (p.Asn302Asp)
1g.7663463A>TCA338121948CAMTA1c.916A>T (p.Asn306Tyr)
c.*767A>T (n.*767A>T)
c.826A>T (p.Asn276Tyr)
c.844A>T (p.Asn282Tyr)
c.*685A>T (n.*685A>T)
c.904A>T (p.Asn302Tyr)
1g.7663464A=CA1152023632CAMTA1c.917A= (p.Asn306=)
c.*768A= (n.*768A=)
c.827A= (p.Asn276=)
c.845A= (p.Asn282=)
c.*686A= (n.*686A=)
c.905A= (p.Asn302=)
1g.7663464A>CCA338121952CAMTA1c.917A>C (p.Asn306Thr)
c.*768A>C (n.*768A>C)
c.827A>C (p.Asn276Thr)
c.845A>C (p.Asn282Thr)
c.*686A>C (n.*686A>C)
c.905A>C (p.Asn302Thr)
1g.7663464A>GCA338121955CAMTA1c.917A>G (p.Asn306Ser)
c.*768A>G (n.*768A>G)
c.827A>G (p.Asn276Ser)
c.845A>G (p.Asn282Ser)
c.*686A>G (n.*686A>G)
c.905A>G (p.Asn302Ser)
dbSNP gnomAD v2 gnomAD v4
1g.7663464A>TCA338121966CAMTA1c.917A>T (p.Asn306Ile)
c.*768A>T (n.*768A>T)
c.827A>T (p.Asn276Ile)
c.845A>T (p.Asn282Ile)
c.*686A>T (n.*686A>T)
c.905A>T (p.Asn302Ile)
1g.7663465T>ACA338121967CAMTA1c.918T>A (p.Asn306Lys)
c.*769T>A (n.*769T>A)
c.828T>A (p.Asn276Lys)
c.846T>A (p.Asn282Lys)
c.*687T>A (n.*687T>A)
c.906T>A (p.Asn302Lys)
1g.7663465T>CCA416026386CAMTA1c.918T>C (p.Asn306=)
c.*769T>C (n.*769T>C)
c.828T>C (p.Asn276=)
c.846T>C (p.Asn282=)
c.*687T>C (n.*687T>C)
c.906T>C (p.Asn302=)
1g.7663465T>GCA338121968CAMTA1c.918T>G (p.Asn306Lys)
c.*769T>G (n.*769T>G)
c.828T>G (p.Asn276Lys)
c.846T>G (p.Asn282Lys)
c.*687T>G (n.*687T>G)
c.906T>G (p.Asn302Lys)
1g.7663466G>ACA338121974CAMTA1c.919G>A (p.Asp307Asn)
c.*770G>A (n.*770G>A)
c.829G>A (p.Asp277Asn)
c.847G>A (p.Asp283Asn)
c.*688G>A (n.*688G>A)
c.907G>A (p.Asp303Asn)
gnomAD v4
1g.7663466G>CCA338121971CAMTA1c.919G>C (p.Asp307His)
c.*770G>C (n.*770G>C)
c.829G>C (p.Asp277His)
c.847G>C (p.Asp283His)
c.*688G>C (n.*688G>C)
c.907G>C (p.Asp303His)
1g.7663466G=CA1152023633CAMTA1c.919G= (p.Asp307=)
c.*770G= (n.*770G=)
c.829G= (p.Asp277=)
c.847G= (p.Asp283=)
c.*688G= (n.*688G=)
c.907G= (p.Asp303=)
1g.7663466G>TCA566327CAMTA1c.919G>T (p.Asp307Tyr)
c.*770G>T (n.*770G>T)
c.829G>T (p.Asp277Tyr)
c.847G>T (p.Asp283Tyr)
c.*688G>T (n.*688G>T)
c.907G>T (p.Asp303Tyr)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.7663467A>CCA338121987CAMTA1c.920A>C (p.Asp307Ala)
c.*771A>C (n.*771A>C)
c.830A>C (p.Asp277Ala)
c.848A>C (p.Asp283Ala)
c.*689A>C (n.*689A>C)
c.908A>C (p.Asp303Ala)
1g.7663467A>GCA338121988CAMTA1c.920A>G (p.Asp307Gly)
c.*771A>G (n.*771A>G)
c.830A>G (p.Asp277Gly)
c.848A>G (p.Asp283Gly)
c.*689A>G (n.*689A>G)
c.908A>G (p.Asp303Gly)
gnomAD v4
1g.7663467A>TCA338121995CAMTA1c.920A>T (p.Asp307Val)
c.*771A>T (n.*771A>T)
c.830A>T (p.Asp277Val)
c.848A>T (p.Asp283Val)
c.*689A>T (n.*689A>T)
c.908A>T (p.Asp303Val)
1g.7663468C>ACA338122001CAMTA1c.921C>A (p.Asp307Glu)
c.*772C>A (n.*772C>A)
c.831C>A (p.Asp277Glu)
c.849C>A (p.Asp283Glu)
c.*690C>A (n.*690C>A)
c.909C>A (p.Asp303Glu)
gnomAD v4
1g.7663468C=CA1152023634CAMTA1c.921C= (p.Asp307=)
c.*772C= (n.*772C=)
c.831C= (p.Asp277=)
c.849C= (p.Asp283=)
c.*690C= (n.*690C=)
c.909C= (p.Asp303=)
1g.7663468C>GCA338122005CAMTA1c.921C>G (p.Asp307Glu)
c.*772C>G (n.*772C>G)
c.831C>G (p.Asp277Glu)
c.849C>G (p.Asp283Glu)
c.*690C>G (n.*690C>G)
c.909C>G (p.Asp303Glu)
1g.7663468C>TCA416026387CAMTA1c.921C>T (p.Asp307=)
c.*772C>T (n.*772C>T)
c.831C>T (p.Asp277=)
c.849C>T (p.Asp283=)
c.*690C>T (n.*690C>T)
c.909C>T (p.Asp303=)
dbSNP gnomAD v2 gnomAD v4
1g.7663469G>ACA566328CAMTA1c.922G>A (p.Val308Met)
c.*773G>A (n.*773G>A)
c.832G>A (p.Val278Met)
c.850G>A (p.Val284Met)
c.*691G>A (n.*691G>A)
c.910G>A (p.Val304Met)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.7663469G>CCA338122018CAMTA1c.922G>C (p.Val308Leu)
c.*773G>C (n.*773G>C)
c.832G>C (p.Val278Leu)
c.850G>C (p.Val284Leu)
c.*691G>C (n.*691G>C)
c.910G>C (p.Val304Leu)
1g.7663469G=CA1152023635CAMTA1c.922G= (p.Val308=)
c.*773G= (n.*773G=)
c.832G= (p.Val278=)
c.850G= (p.Val284=)
c.*691G= (n.*691G=)
c.910G= (p.Val304=)
1g.7663469G>TCA338122022CAMTA1c.922G>T (p.Val308Leu)
c.*773G>T (n.*773G>T)
c.832G>T (p.Val278Leu)
c.850G>T (p.Val284Leu)
c.*691G>T (n.*691G>T)
c.910G>T (p.Val304Leu)
1g.7663470T>ACA338122025CAMTA1c.923T>A (p.Val308Glu)
c.*774T>A (n.*774T>A)
c.833T>A (p.Val278Glu)
c.851T>A (p.Val284Glu)
c.*692T>A (n.*692T>A)
c.911T>A (p.Val304Glu)
1g.7663470T>CCA338122031CAMTA1c.923T>C (p.Val308Ala)
c.*774T>C (n.*774T>C)
c.833T>C (p.Val278Ala)
c.851T>C (p.Val284Ala)
c.*692T>C (n.*692T>C)
c.911T>C (p.Val304Ala)
1g.7663470T>GCA338122033CAMTA1c.923T>G (p.Val308Gly)
c.*774T>G (n.*774T>G)
c.833T>G (p.Val278Gly)
c.851T>G (p.Val284Gly)
c.*692T>G (n.*692T>G)
c.911T>G (p.Val304Gly)
1g.7663471G>ACA416026389CAMTA1c.924G>A (p.Val308=)
c.*775G>A (n.*775G>A)
c.834G>A (p.Val278=)
c.852G>A (p.Val284=)
c.*693G>A (n.*693G>A)
c.912G>A (p.Val304=)
gnomAD v4
1g.7663471G>CCA416026390CAMTA1c.924G>C (p.Val308=)
c.*775G>C (n.*775G>C)
c.834G>C (p.Val278=)
c.852G>C (p.Val284=)
c.*693G>C (n.*693G>C)
c.912G>C (p.Val304=)
1g.7663471G>TCA416026388CAMTA1c.924G>T (p.Val308=)
c.*775G>T (n.*775G>T)
c.834G>T (p.Val278=)
c.852G>T (p.Val284=)
c.*693G>T (n.*693G>T)
c.912G>T (p.Val304=)
1g.7663472T>ACA338122036CAMTA1c.925T>A (p.Ser309Thr)
c.*776T>A (n.*776T>A)
c.835T>A (p.Ser279Thr)
c.853T>A (p.Ser285Thr)
c.*694T>A (n.*694T>A)
c.913T>A (p.Ser305Thr)
1g.7663472T>CCA338122037CAMTA1c.925T>C (p.Ser309Pro)
c.*776T>C (n.*776T>C)
c.835T>C (p.Ser279Pro)
c.853T>C (p.Ser285Pro)
c.*694T>C (n.*694T>C)
c.913T>C (p.Ser305Pro)
1g.7663472T>GCA338122040CAMTA1c.925T>G (p.Ser309Ala)
c.*776T>G (n.*776T>G)
c.835T>G (p.Ser279Ala)
c.853T>G (p.Ser285Ala)
c.*694T>G (n.*694T>G)
c.913T>G (p.Ser305Ala)
1g.7663473C>ACA338122044CAMTA1c.926C>A (p.Ser309Ter)
c.*777C>A (n.*777C>A)
c.836C>A (p.Ser279Ter)
c.854C>A (p.Ser285Ter)
c.*695C>A (n.*695C>A)
c.914C>A (p.Ser305Ter)
ClinVar gnomAD v4
1g.7663473C=CA1152023636CAMTA1c.926C= (p.Ser309=)
c.*777C= (n.*777C=)
c.836C= (p.Ser279=)
c.854C= (p.Ser285=)
c.*695C= (n.*695C=)
c.914C= (p.Ser305=)
1g.7663473C>GCA338122053CAMTA1c.926C>G (p.Ser309Trp)
c.*777C>G (n.*777C>G)
c.836C>G (p.Ser279Trp)
c.854C>G (p.Ser285Trp)
c.*695C>G (n.*695C>G)
c.914C>G (p.Ser305Trp)
1g.7663473C>TCA338122042CAMTA1c.926C>T (p.Ser309Leu)
c.*777C>T (n.*777C>T)
c.836C>T (p.Ser279Leu)
c.854C>T (p.Ser285Leu)
c.*695C>T (n.*695C>T)
c.914C>T (p.Ser305Leu)
dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
1g.7663474G>ACA566329CAMTA1c.927G>A (p.Ser309=)
c.*778G>A (n.*778G>A)
c.837G>A (p.Ser279=)
c.855G>A (p.Ser285=)
c.*696G>A (n.*696G>A)
c.915G>A (p.Ser305=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.7663474G>CCA416026391CAMTA1c.927G>C (p.Ser309=)
c.*778G>C (n.*778G>C)
c.837G>C (p.Ser279=)
c.855G>C (p.Ser285=)
c.*696G>C (n.*696G>C)
c.915G>C (p.Ser305=)
dbSNP
1g.7663474G=CA1139990299CAMTA1c.927G= (p.Ser309=)
c.*778G= (n.*778G=)
c.837G= (p.Ser279=)
c.855G= (p.Ser285=)
c.*696G= (n.*696G=)
c.915G= (p.Ser305=)
1g.7663474G>TCA416026392CAMTA1c.927G>T (p.Ser309=)
c.*778G>T (n.*778G>T)
c.837G>T (p.Ser279=)
c.855G>T (p.Ser285=)
c.*696G>T (n.*696G>T)
c.915G>T (p.Ser305=)
gnomAD v4
1g.7663475G>ACA338122067CAMTA1c.928G>A (p.Glu310Lys)
c.*779G>A (n.*779G>A)
c.838G>A (p.Glu280Lys)
c.856G>A (p.Glu286Lys)
c.*697G>A (n.*697G>A)
c.916G>A (p.Glu306Lys)
1g.7663475G>CCA338122069CAMTA1c.928G>C (p.Glu310Gln)
c.*779G>C (n.*779G>C)
c.838G>C (p.Glu280Gln)
c.856G>C (p.Glu286Gln)
c.*697G>C (n.*697G>C)
c.916G>C (p.Glu306Gln)
COSMIC
1g.7663475G>TCA338122077CAMTA1c.928G>T (p.Glu310Ter)
c.*779G>T (n.*779G>T)
c.838G>T (p.Glu280Ter)
c.856G>T (p.Glu286Ter)
c.*697G>T (n.*697G>T)
c.916G>T (p.Glu306Ter)
1g.7663476A>CCA338122080CAMTA1c.929A>C (p.Glu310Ala)
c.*780A>C (n.*780A>C)
c.839A>C (p.Glu280Ala)
c.857A>C (p.Glu286Ala)
c.*698A>C (n.*698A>C)
c.917A>C (p.Glu306Ala)
1g.7663476A>GCA338122081CAMTA1c.929A>G (p.Glu310Gly)
c.*780A>G (n.*780A>G)
c.839A>G (p.Glu280Gly)
c.857A>G (p.Glu286Gly)
c.*698A>G (n.*698A>G)
c.917A>G (p.Glu306Gly)
gnomAD v4
1g.7663476A>TCA338122082CAMTA1c.929A>T (p.Glu310Val)
c.*780A>T (n.*780A>T)
c.839A>T (p.Glu280Val)
c.857A>T (p.Glu286Val)
c.*698A>T (n.*698A>T)
c.917A>T (p.Glu306Val)
1g.7663477G>ACA416026393CAMTA1c.930G>A (p.Glu310=)
c.*781G>A (n.*781G>A)
c.840G>A (p.Glu280=)
c.858G>A (p.Glu286=)
c.*699G>A (n.*699G>A)
c.918G>A (p.Glu306=)
gnomAD v4
1g.7663477G>CCA338122083CAMTA1c.930G>C (p.Glu310Asp)
c.*781G>C (n.*781G>C)
c.840G>C (p.Glu280Asp)
c.858G>C (p.Glu286Asp)
c.*699G>C (n.*699G>C)
c.918G>C (p.Glu306Asp)
1g.7663477G>TCA338122084CAMTA1c.930G>T (p.Glu310Asp)
c.*781G>T (n.*781G>T)
c.840G>T (p.Glu280Asp)
c.858G>T (p.Glu286Asp)
c.*699G>T (n.*699G>T)
c.918G>T (p.Glu306Asp)
gnomAD v4 COSMIC
1g.7663478G>ACA566330CAMTA1c.931G>A (p.Gly311Ser)
c.*782G>A (n.*782G>A)
c.841G>A (p.Gly281Ser)
c.859G>A (p.Gly287Ser)
c.*700G>A (n.*700G>A)
c.919G>A (p.Gly307Ser)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.7663478G>CCA338122087CAMTA1c.931G>C (p.Gly311Arg)
c.*782G>C (n.*782G>C)
c.841G>C (p.Gly281Arg)
c.859G>C (p.Gly287Arg)
c.*700G>C (n.*700G>C)
c.919G>C (p.Gly307Arg)
1g.7663478G=CA1152023637CAMTA1c.931G= (p.Gly311=)
c.*782G= (n.*782G=)
c.841G= (p.Gly281=)
c.859G= (p.Gly287=)
c.*700G= (n.*700G=)
c.919G= (p.Gly307=)
1g.7663478G>TCA338122088CAMTA1c.931G>T (p.Gly311Cys)
c.*782G>T (n.*782G>T)
c.841G>T (p.Gly281Cys)
c.859G>T (p.Gly287Cys)
c.*700G>T (n.*700G>T)
c.919G>T (p.Gly307Cys)
1g.7663479G>ACA338122096CAMTA1c.932G>A (p.Gly311Asp)
c.*783G>A (n.*783G>A)
c.842G>A (p.Gly281Asp)
c.860G>A (p.Gly287Asp)
c.*701G>A (n.*701G>A)
c.920G>A (p.Gly307Asp)
gnomAD v4
1g.7663479G>CCA338122095CAMTA1c.932G>C (p.Gly311Ala)
c.*783G>C (n.*783G>C)
c.842G>C (p.Gly281Ala)
c.860G>C (p.Gly287Ala)
c.*701G>C (n.*701G>C)
c.920G>C (p.Gly307Ala)
1g.7663479G>TCA338122093CAMTA1c.932G>T (p.Gly311Val)
c.*783G>T (n.*783G>T)
c.842G>T (p.Gly281Val)
c.860G>T (p.Gly287Val)
c.*701G>T (n.*701G>T)
c.920G>T (p.Gly307Val)
1g.7663480C>ACA416026394CAMTA1c.933C>A (p.Gly311=)
c.*784C>A (n.*784C>A)
c.843C>A (p.Gly281=)
c.861C>A (p.Gly287=)
c.*702C>A (n.*702C>A)
c.921C>A (p.Gly307=)
gnomAD v4
1g.7663480C=CA1143650342CAMTA1c.933C= (p.Gly311=)
c.*784C= (n.*784C=)
c.843C= (p.Gly281=)
c.861C= (p.Gly287=)
c.*702C= (n.*702C=)
c.921C= (p.Gly307=)
1g.7663480C>GCA416026395CAMTA1c.933C>G (p.Gly311=)
c.*784C>G (n.*784C>G)
c.843C>G (p.Gly281=)
c.861C>G (p.Gly287=)
c.*702C>G (n.*702C>G)
c.921C>G (p.Gly307=)
dbSNP gnomAD v2 gnomAD v4
1g.7663480C>TCA17243920CAMTA1c.933C>T (p.Gly311=)
c.*784C>T (n.*784C>T)
c.843C>T (p.Gly281=)
c.861C>T (p.Gly287=)
c.*702C>T (n.*702C>T)
c.921C>T (p.Gly307=)
dbSNP
1g.7663481_7663486dupCA2643031705CAMTA1c.934_939dup (p.His313_Glu314insLysHis)
c.*785_*790dup (n.*785_*790dup)
c.844_849dup (p.His283_Glu284insLysHis)
c.862_867dup (p.His289_Glu290insLysHis)
c.*703_*708dup (n.*703_*708dup)
c.922_927dup (p.His309_Glu310insLysHis)
gnomAD v4
1g.7663481A>CCA338122105CAMTA1c.934A>C (p.Lys312Gln)
c.*785A>C (n.*785A>C)
c.844A>C (p.Lys282Gln)
c.862A>C (p.Lys288Gln)
c.*703A>C (n.*703A>C)
c.922A>C (p.Lys308Gln)
1g.7663481A>GCA338122119CAMTA1c.934A>G (p.Lys312Glu)
c.*785A>G (n.*785A>G)
c.844A>G (p.Lys282Glu)
c.862A>G (p.Lys288Glu)
c.*703A>G (n.*703A>G)
c.922A>G (p.Lys308Glu)
gnomAD v4
1g.7663481A>TCA338122122CAMTA1c.934A>T (p.Lys312Ter)
c.*785A>T (n.*785A>T)
c.844A>T (p.Lys282Ter)
c.862A>T (p.Lys288Ter)
c.*703A>T (n.*703A>T)
c.922A>T (p.Lys308Ter)
1g.7663482A=CA1152023638CAMTA1c.935A= (p.Lys312=)
c.*786A= (n.*786A=)
c.845A= (p.Lys282=)
c.863A= (p.Lys288=)
c.*704A= (n.*704A=)
c.923A= (p.Lys308=)
1g.7663482A>CCA566332CAMTA1c.935A>C (p.Lys312Thr)
c.*786A>C (n.*786A>C)
c.845A>C (p.Lys282Thr)
c.863A>C (p.Lys288Thr)
c.*704A>C (n.*704A>C)
c.923A>C (p.Lys308Thr)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.7663482A>GCA566331CAMTA1c.935A>G (p.Lys312Arg)
c.*786A>G (n.*786A>G)
c.845A>G (p.Lys282Arg)
c.863A>G (p.Lys288Arg)
c.*704A>G (n.*704A>G)
c.923A>G (p.Lys308Arg)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.7663482A>TCA338122143CAMTA1c.935A>T (p.Lys312Met)
c.*786A>T (n.*786A>T)
c.845A>T (p.Lys282Met)
c.863A>T (p.Lys288Met)
c.*704A>T (n.*704A>T)
c.923A>T (p.Lys308Met)
1g.7663483G>ACA416026396CAMTA1c.936G>A (p.Lys312=)
c.*787G>A (n.*787G>A)
c.846G>A (p.Lys282=)
c.864G>A (p.Lys288=)
c.*705G>A (n.*705G>A)
c.924G>A (p.Lys308=)
dbSNP gnomAD v2 gnomAD v4
1g.7663483G>CCA338122148CAMTA1c.936G>C (p.Lys312Asn)
c.*787G>C (n.*787G>C)
c.846G>C (p.Lys282Asn)
c.864G>C (p.Lys288Asn)
c.*705G>C (n.*705G>C)
c.924G>C (p.Lys308Asn)
1g.7663483G=CA1152023639CAMTA1c.936G= (p.Lys312=)
c.*787G= (n.*787G=)
c.846G= (p.Lys282=)
c.864G= (p.Lys288=)
c.*705G= (n.*705G=)
c.924G= (p.Lys308=)
1g.7663483G>TCA338122153CAMTA1c.936G>T (p.Lys312Asn)
c.*787G>T (n.*787G>T)
c.846G>T (p.Lys282Asn)
c.864G>T (p.Lys288Asn)
c.*705G>T (n.*705G>T)
c.924G>T (p.Lys308Asn)
gnomAD v4
1g.7663484C>ACA338122156CAMTA1c.937C>A (p.His313Asn)
c.*788C>A (n.*788C>A)
c.847C>A (p.His283Asn)
c.865C>A (p.His289Asn)
c.*706C>A (n.*706C>A)
c.925C>A (p.His309Asn)
gnomAD v4
1g.7663484C>GCA338122159CAMTA1c.937C>G (p.His313Asp)
c.*788C>G (n.*788C>G)
c.847C>G (p.His283Asp)
c.865C>G (p.His289Asp)
c.*706C>G (n.*706C>G)
c.925C>G (p.His309Asp)
1g.7663484C>TCA338122170CAMTA1c.937C>T (p.His313Tyr)
c.*788C>T (n.*788C>T)
c.847C>T (p.His283Tyr)
c.865C>T (p.His289Tyr)
c.*706C>T (n.*706C>T)
c.925C>T (p.His309Tyr)
1g.7663485A=CA1152023640CAMTA1c.938A= (p.His313=)
c.*789A= (n.*789A=)
c.848A= (p.His283=)
c.866A= (p.His289=)
c.*707A= (n.*707A=)
c.926A= (p.His309=)
1g.7663485A>CCA338122174CAMTA1c.938A>C (p.His313Pro)
c.*789A>C (n.*789A>C)
c.848A>C (p.His283Pro)
c.866A>C (p.His289Pro)
c.*707A>C (n.*707A>C)
c.926A>C (p.His309Pro)
1g.7663485A>GCA566333CAMTA1c.938A>G (p.His313Arg)
c.*789A>G (n.*789A>G)
c.848A>G (p.His283Arg)
c.866A>G (p.His289Arg)
c.*707A>G (n.*707A>G)
c.926A>G (p.His309Arg)
dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
1g.7663485A>TCA338122180CAMTA1c.938A>T (p.His313Leu)
c.*789A>T (n.*789A>T)
c.848A>T (p.His283Leu)
c.866A>T (p.His289Leu)
c.*707A>T (n.*707A>T)
c.926A>T (p.His309Leu)
1g.7663486C>ACA338122185CAMTA1c.939C>A (p.His313Gln)
c.*790C>A (n.*790C>A)
c.849C>A (p.His283Gln)
c.867C>A (p.His289Gln)
c.*708C>A (n.*708C>A)
c.927C>A (p.His309Gln)
gnomAD v4
1g.7663486C=CA1143922104CAMTA1c.939C= (p.His313=)
c.*790C= (n.*790C=)
c.849C= (p.His283=)
c.867C= (p.His289=)
c.*708C= (n.*708C=)
c.927C= (p.His309=)
1g.7663486C>GCA338122191CAMTA1c.939C>G (p.His313Gln)
c.*790C>G (n.*790C>G)
c.849C>G (p.His283Gln)
c.867C>G (p.His289Gln)
c.*708C>G (n.*708C>G)
c.927C>G (p.His309Gln)
ClinVar dbSNP gnomAD v3 gnomAD v4
1g.7663486C>TCA566334CAMTA1c.939C>T (p.His313=)
c.*790C>T (n.*790C>T)
c.849C>T (p.His283=)
c.867C>T (p.His289=)
c.*708C>T (n.*708C>T)
c.927C>T (p.His309=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.7663487G>ACA566335CAMTA1c.940G>A (p.Glu314Lys)
c.*791G>A (n.*791G>A)
c.850G>A (p.Glu284Lys)
c.868G>A (p.Glu290Lys)
c.*709G>A (n.*709G>A)
c.928G>A (p.Glu310Lys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.7663487G>CCA338122194CAMTA1c.940G>C (p.Glu314Gln)
c.*791G>C (n.*791G>C)
c.850G>C (p.Glu284Gln)
c.868G>C (p.Glu290Gln)
c.*709G>C (n.*709G>C)
c.928G>C (p.Glu310Gln)
1g.7663487G=CA1152023641CAMTA1c.940G= (p.Glu314=)
c.*791G= (n.*791G=)
c.850G= (p.Glu284=)
c.868G= (p.Glu290=)
c.*709G= (n.*709G=)
c.928G= (p.Glu310=)
1g.7663487G>TCA338122195CAMTA1c.940G>T (p.Glu314Ter)
c.*791G>T (n.*791G>T)
c.850G>T (p.Glu284Ter)
c.868G>T (p.Glu290Ter)
c.*709G>T (n.*709G>T)
c.928G>T (p.Glu310Ter)
COSMIC
1g.7663488A>CCA338122198CAMTA1c.941A>C (p.Glu314Ala)
c.*792A>C (n.*792A>C)
c.851A>C (p.Glu284Ala)
c.869A>C (p.Glu290Ala)
c.*710A>C (n.*710A>C)
c.929A>C (p.Glu310Ala)
1g.7663488A>GCA338122199CAMTA1c.941A>G (p.Glu314Gly)
c.*792A>G (n.*792A>G)
c.851A>G (p.Glu284Gly)
c.869A>G (p.Glu290Gly)
c.*710A>G (n.*710A>G)
c.929A>G (p.Glu310Gly)
1g.7663488A>TCA338122200CAMTA1c.941A>T (p.Glu314Val)
c.*792A>T (n.*792A>T)
c.851A>T (p.Glu284Val)
c.869A>T (p.Glu290Val)
c.*710A>T (n.*710A>T)
c.929A>T (p.Glu310Val)
1g.7663489G>ACA416026397CAMTA1c.942G>A (p.Glu314=)
c.*793G>A (n.*793G>A)
c.852G>A (p.Glu284=)
c.870G>A (p.Glu290=)
c.*711G>A (n.*711G>A)
c.930G>A (p.Glu310=)
1g.7663489G>CCA338122201CAMTA1c.942G>C (p.Glu314Asp)
c.*793G>C (n.*793G>C)
c.852G>C (p.Glu284Asp)
c.870G>C (p.Glu290Asp)
c.*711G>C (n.*711G>C)
c.930G>C (p.Glu310Asp)
1g.7663489G>TCA338122204CAMTA1c.942G>T (p.Glu314Asp)
c.*793G>T (n.*793G>T)
c.852G>T (p.Glu284Asp)
c.870G>T (p.Glu290Asp)
c.*711G>T (n.*711G>T)
c.930G>T (p.Glu310Asp)
1g.7663490C>ACA338122213CAMTA1c.943C>A (p.His315Asn)
c.*794C>A (n.*794C>A)
c.853C>A (p.His285Asn)
c.871C>A (p.His291Asn)
c.*712C>A (n.*712C>A)
c.931C>A (p.His311Asn)
gnomAD v4
1g.7663490C>GCA338122217CAMTA1c.943C>G (p.His315Asp)
c.*794C>G (n.*794C>G)
c.853C>G (p.His285Asp)
c.871C>G (p.His291Asp)
c.*712C>G (n.*712C>G)
c.931C>G (p.His311Asp)
1g.7663490C>TCA338122216CAMTA1c.943C>T (p.His315Tyr)
c.*794C>T (n.*794C>T)
c.853C>T (p.His285Tyr)
c.871C>T (p.His291Tyr)
c.*712C>T (n.*712C>T)
c.931C>T (p.His311Tyr)
1g.7663491A=CA1152023642CAMTA1c.944A= (p.His315=)
c.*795A= (n.*795A=)
c.854A= (p.His285=)
c.872A= (p.His291=)
c.*713A= (n.*713A=)
c.932A= (p.His311=)
1g.7663491A>CCA566336CAMTA1c.944A>C (p.His315Pro)
c.*795A>C (n.*795A>C)
c.854A>C (p.His285Pro)
c.872A>C (p.His291Pro)
c.*713A>C (n.*713A>C)
c.932A>C (p.His311Pro)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.7663491A>GCA338122222CAMTA1c.944A>G (p.His315Arg)
c.*795A>G (n.*795A>G)
c.854A>G (p.His285Arg)
c.872A>G (p.His291Arg)
c.*713A>G (n.*713A>G)
c.932A>G (p.His311Arg)
1g.7663491A>TCA338122223CAMTA1c.944A>T (p.His315Leu)
c.*795A>T (n.*795A>T)
c.854A>T (p.His285Leu)
c.872A>T (p.His291Leu)
c.*713A>T (n.*713A>T)
c.932A>T (p.His311Leu)
1g.7663492C>ACA338122224CAMTA1c.945C>A (p.His315Gln)
c.*796C>A (n.*796C>A)
c.855C>A (p.His285Gln)
c.873C>A (p.His291Gln)
c.*714C>A (n.*714C>A)
c.933C>A (p.His311Gln)
gnomAD v4
1g.7663492C=CA1152023643CAMTA1c.945C= (p.His315=)
c.*796C= (n.*796C=)
c.855C= (p.His285=)
c.873C= (p.His291=)
c.*714C= (n.*714C=)
c.933C= (p.His311=)
1g.7663492C>GCA338122226CAMTA1c.945C>G (p.His315Gln)
c.*796C>G (n.*796C>G)
c.855C>G (p.His285Gln)
c.873C>G (p.His291Gln)
c.*714C>G (n.*714C>G)
c.933C>G (p.His311Gln)
1g.7663492C>TCA416026398CAMTA1c.945C>T (p.His315=)
c.*796C>T (n.*796C>T)
c.855C>T (p.His285=)
c.873C>T (p.His291=)
c.*714C>T (n.*714C>T)
c.933C>T (p.His311=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.7663493A=CA1152023644CAMTA1c.946A= (p.Ser316=)
c.*797A= (n.*797A=)
c.856A= (p.Ser286=)
c.874A= (p.Ser292=)
c.*715A= (n.*715A=)
c.934A= (p.Ser312=)
1g.7663493A>CCA338122228CAMTA1c.946A>C (p.Ser316Arg)
c.*797A>C (n.*797A>C)
c.856A>C (p.Ser286Arg)
c.874A>C (p.Ser292Arg)
c.*715A>C (n.*715A>C)
c.934A>C (p.Ser312Arg)
1g.7663493A>GCA566337CAMTA1c.946A>G (p.Ser316Gly)
c.*797A>G (n.*797A>G)
c.856A>G (p.Ser286Gly)
c.874A>G (p.Ser292Gly)
c.*715A>G (n.*715A>G)
c.934A>G (p.Ser312Gly)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.7663493A>TCA338122230CAMTA1c.946A>T (p.Ser316Cys)
c.*797A>T (n.*797A>T)
c.856A>T (p.Ser286Cys)
c.874A>T (p.Ser292Cys)
c.*715A>T (n.*715A>T)
c.934A>T (p.Ser312Cys)
1g.7663494G>ACA338122232CAMTA1c.947G>A (p.Ser316Asn)
c.*798G>A (n.*798G>A)
c.857G>A (p.Ser286Asn)
c.875G>A (p.Ser292Asn)
c.*716G>A (n.*716G>A)
c.935G>A (p.Ser312Asn)
COSMIC
1g.7663494G>CCA566338CAMTA1c.947G>C (p.Ser316Thr)
c.*798G>C (n.*798G>C)
c.857G>C (p.Ser286Thr)
c.875G>C (p.Ser292Thr)
c.*716G>C (n.*716G>C)
c.935G>C (p.Ser312Thr)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.7663494G=CA1152023645CAMTA1c.947G= (p.Ser316=)
c.*798G= (n.*798G=)
c.857G= (p.Ser286=)
c.875G= (p.Ser292=)
c.*716G= (n.*716G=)
c.935G= (p.Ser312=)
1g.7663494G>TCA338122234CAMTA1c.947G>T (p.Ser316Ile)
c.*798G>T (n.*798G>T)
c.857G>T (p.Ser286Ile)
c.875G>T (p.Ser292Ile)
c.*716G>T (n.*716G>T)
c.935G>T (p.Ser312Ile)
1g.7663495C>ACA338122238CAMTA1c.948C>A (p.Ser316Arg)
c.*799C>A (n.*799C>A)
c.858C>A (p.Ser286Arg)
c.876C>A (p.Ser292Arg)
c.*717C>A (n.*717C>A)
c.936C>A (p.Ser312Arg)
1g.7663495C>GCA338122241CAMTA1c.948C>G (p.Ser316Arg)
c.*799C>G (n.*799C>G)
c.858C>G (p.Ser286Arg)
c.876C>G (p.Ser292Arg)
c.*717C>G (n.*717C>G)
c.936C>G (p.Ser312Arg)
1g.7663495C>TCA416026399CAMTA1c.948C>T (p.Ser316=)
c.*799C>T (n.*799C>T)
c.858C>T (p.Ser286=)
c.876C>T (p.Ser292=)
c.*717C>T (n.*717C>T)
c.936C>T (p.Ser312=)
1g.7663496C>ACA338122245CAMTA1c.949C>A (p.His317Asn)
c.*800C>A (n.*800C>A)
c.859C>A (p.His287Asn)
c.877C>A (p.His293Asn)
c.*718C>A (n.*718C>A)
c.937C>A (p.His313Asn)
1g.7663496C>GCA338122248CAMTA1c.949C>G (p.His317Asp)
c.*800C>G (n.*800C>G)
c.859C>G (p.His287Asp)
c.877C>G (p.His293Asp)
c.*718C>G (n.*718C>G)
c.937C>G (p.His313Asp)
1g.7663496C>TCA338122250CAMTA1c.949C>T (p.His317Tyr)
c.*800C>T (n.*800C>T)
c.859C>T (p.His287Tyr)
c.877C>T (p.His293Tyr)
c.*718C>T (n.*718C>T)
c.937C>T (p.His313Tyr)
1g.7663497A=CA1152023646CAMTA1c.950A= (p.His317=)
c.*801A= (n.*801A=)
c.860A= (p.His287=)
c.878A= (p.His293=)
c.*719A= (n.*719A=)
c.938A= (p.His313=)
1g.7663497A>CCA338122253CAMTA1c.950A>C (p.His317Pro)
c.*801A>C (n.*801A>C)
c.860A>C (p.His287Pro)
c.878A>C (p.His293Pro)
c.*719A>C (n.*719A>C)
c.938A>C (p.His313Pro)
1g.7663497A>GCA338122256CAMTA1c.950A>G (p.His317Arg)
c.*801A>G (n.*801A>G)
c.860A>G (p.His287Arg)
c.878A>G (p.His293Arg)
c.*719A>G (n.*719A>G)
c.938A>G (p.His313Arg)
dbSNP gnomAD v4
1g.7663497A>TCA338122258CAMTA1c.950A>T (p.His317Leu)
c.*801A>T (n.*801A>T)
c.860A>T (p.His287Leu)
c.878A>T (p.His293Leu)
c.*719A>T (n.*719A>T)
c.938A>T (p.His313Leu)
1g.7663498C>ACA338122262CAMTA1c.951C>A (p.His317Gln)
c.*802C>A (n.*802C>A)
c.861C>A (p.His287Gln)
c.879C>A (p.His293Gln)
c.*720C>A (n.*720C>A)
c.939C>A (p.His313Gln)
1g.7663498C>GCA338122263CAMTA1c.951C>G (p.His317Gln)
c.*802C>G (n.*802C>G)
c.861C>G (p.His287Gln)
c.879C>G (p.His293Gln)
c.*720C>G (n.*720C>G)
c.939C>G (p.His313Gln)
1g.7663498C>TCA416026400CAMTA1c.951C>T (p.His317=)
c.*802C>T (n.*802C>T)
c.861C>T (p.His287=)
c.879C>T (p.His293=)
c.*720C>T (n.*720C>T)
c.939C>T (p.His313=)
gnomAD v4
1g.7663499A>CCA338122267CAMTA1c.952A>C (p.Ser318Arg)
c.*803A>C (n.*803A>C)
c.862A>C (p.Ser288Arg)
c.880A>C (p.Ser294Arg)
c.*721A>C (n.*721A>C)
c.940A>C (p.Ser314Arg)
1g.7663499A>GCA338122270CAMTA1c.952A>G (p.Ser318Gly)
c.*803A>G (n.*803A>G)
c.862A>G (p.Ser288Gly)
c.880A>G (p.Ser294Gly)
c.*721A>G (n.*721A>G)
c.940A>G (p.Ser314Gly)
1g.7663499A>TCA338122269CAMTA1c.952A>T (p.Ser318Cys)
c.*803A>T (n.*803A>T)
c.862A>T (p.Ser288Cys)
c.880A>T (p.Ser294Cys)
c.*721A>T (n.*721A>T)
c.940A>T (p.Ser314Cys)
1g.7663500G>ACA338122273CAMTA1c.953G>A (p.Ser318Asn)
c.*804G>A (n.*804G>A)
c.863G>A (p.Ser288Asn)
c.881G>A (p.Ser294Asn)
c.*722G>A (n.*722G>A)
c.941G>A (p.Ser314Asn)
gnomAD v4
1g.7663500G>CCA338122276CAMTA1c.953G>C (p.Ser318Thr)
c.*804G>C (n.*804G>C)
c.863G>C (p.Ser288Thr)
c.881G>C (p.Ser294Thr)
c.*722G>C (n.*722G>C)
c.941G>C (p.Ser314Thr)
1g.7663500G>TCA338122286CAMTA1c.953G>T (p.Ser318Ile)
c.*804G>T (n.*804G>T)
c.863G>T (p.Ser288Ile)
c.881G>T (p.Ser294Ile)
c.*722G>T (n.*722G>T)
c.941G>T (p.Ser314Ile)
1g.7663501C>ACA338122288CAMTA1c.954C>A (p.Ser318Arg)
c.*805C>A (n.*805C>A)
c.864C>A (p.Ser288Arg)
c.882C>A (p.Ser294Arg)
c.*723C>A (n.*723C>A)
c.942C>A (p.Ser314Arg)
gnomAD v4
1g.7663501C>GCA338122290CAMTA1c.954C>G (p.Ser318Arg)
c.*805C>G (n.*805C>G)
c.864C>G (p.Ser288Arg)
c.882C>G (p.Ser294Arg)
c.*723C>G (n.*723C>G)
c.942C>G (p.Ser314Arg)
1g.7663501C>TCA416026401CAMTA1c.954C>T (p.Ser318=)
c.*805C>T (n.*805C>T)
c.864C>T (p.Ser288=)
c.882C>T (p.Ser294=)
c.*723C>T (n.*723C>T)
c.942C>T (p.Ser314=)
1g.7663502A>CCA338122292CAMTA1c.955A>C (p.Lys319Gln)
c.*806A>C (n.*806A>C)
c.865A>C (p.Lys289Gln)
c.883A>C (p.Lys295Gln)
c.*724A>C (n.*724A>C)
c.943A>C (p.Lys315Gln)
1g.7663502A>GCA338122295CAMTA1c.955A>G (p.Lys319Glu)
c.*806A>G (n.*806A>G)
c.865A>G (p.Lys289Glu)
c.883A>G (p.Lys295Glu)
c.*724A>G (n.*724A>G)
c.943A>G (p.Lys315Glu)
1g.7663502A>TCA338122297CAMTA1c.955A>T (p.Lys319Ter)
c.*806A>T (n.*806A>T)
c.865A>T (p.Lys289Ter)
c.883A>T (p.Lys295Ter)
c.*724A>T (n.*724A>T)
c.943A>T (p.Lys315Ter)
1g.7663503A>CCA338122298CAMTA1c.956A>C (p.Lys319Thr)
c.*807A>C (n.*807A>C)
c.866A>C (p.Lys289Thr)
c.884A>C (p.Lys295Thr)
c.*725A>C (n.*725A>C)
c.944A>C (p.Lys315Thr)
1g.7663503A>GCA338122299CAMTA1c.956A>G (p.Lys319Arg)
c.*807A>G (n.*807A>G)
c.866A>G (p.Lys289Arg)
c.884A>G (p.Lys295Arg)
c.*725A>G (n.*725A>G)
c.944A>G (p.Lys315Arg)
gnomAD v4
1g.7663503A>TCA338122300CAMTA1c.956A>T (p.Lys319Met)
c.*807A>T (n.*807A>T)
c.866A>T (p.Lys289Met)
c.884A>T (p.Lys295Met)
c.*725A>T (n.*725A>T)
c.944A>T (p.Lys315Met)
1g.7663504G>ACA17243934CAMTA1c.957G>A (p.Lys319=)
c.*808G>A (n.*808G>A)
c.867G>A (p.Lys289=)
c.885G>A (p.Lys295=)
c.*726G>A (n.*726G>A)
c.945G>A (p.Lys315=)
dbSNP gnomAD v2 gnomAD v4
1g.7663504G>CCA338122302CAMTA1c.957G>C (p.Lys319Asn)
c.*808G>C (n.*808G>C)
c.867G>C (p.Lys289Asn)
c.885G>C (p.Lys295Asn)
c.*726G>C (n.*726G>C)
c.945G>C (p.Lys315Asn)
1g.7663504G=CA1152023647CAMTA1c.957G= (p.Lys319=)
c.*808G= (n.*808G=)
c.867G= (p.Lys289=)
c.885G= (p.Lys295=)
c.*726G= (n.*726G=)
c.945G= (p.Lys315=)
1g.7663504G>TCA338122303CAMTA1c.957G>T (p.Lys319Asn)
c.*808G>T (n.*808G>T)
c.867G>T (p.Lys289Asn)
c.885G>T (p.Lys295Asn)
c.*726G>T (n.*726G>T)
c.945G>T (p.Lys315Asn)
1g.7663505G>ACA338122306CAMTA1c.958G>A (p.Gly320Ser)
c.*809G>A (n.*809G>A)
c.868G>A (p.Gly290Ser)
c.886G>A (p.Gly296Ser)
c.*727G>A (n.*727G>A)
c.946G>A (p.Gly316Ser)
1g.7663505G>CCA338122304CAMTA1c.958G>C (p.Gly320Arg)
c.*809G>C (n.*809G>C)
c.868G>C (p.Gly290Arg)
c.886G>C (p.Gly296Arg)
c.*727G>C (n.*727G>C)
c.946G>C (p.Gly316Arg)
1g.7663505G>TCA338122305CAMTA1c.958G>T (p.Gly320Cys)
c.*809G>T (n.*809G>T)
c.868G>T (p.Gly290Cys)
c.886G>T (p.Gly296Cys)
c.*727G>T (n.*727G>T)
c.946G>T (p.Gly316Cys)
dbSNP gnomAD v3 gnomAD v4 COSMIC
1g.7663506G>ACA338122308CAMTA1c.959G>A (p.Gly320Asp)
c.*810G>A (n.*810G>A)
c.869G>A (p.Gly290Asp)
c.887G>A (p.Gly296Asp)
c.*728G>A (n.*728G>A)
c.947G>A (p.Gly316Asp)
ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC
1g.7663506G>CCA338122310CAMTA1c.959G>C (p.Gly320Ala)
c.*810G>C (n.*810G>C)
c.869G>C (p.Gly290Ala)
c.887G>C (p.Gly296Ala)
c.*728G>C (n.*728G>C)
c.947G>C (p.Gly316Ala)
1g.7663506G=CA1152023648CAMTA1c.959G= (p.Gly320=)
c.*810G= (n.*810G=)
c.869G= (p.Gly290=)
c.887G= (p.Gly296=)
c.*728G= (n.*728G=)
c.947G= (p.Gly316=)
1g.7663506G>TCA338122312CAMTA1c.959G>T (p.Gly320Val)
c.*810G>T (n.*810G>T)
c.869G>T (p.Gly290Val)
c.887G>T (p.Gly296Val)
c.*728G>T (n.*728G>T)
c.947G>T (p.Gly316Val)
dbSNP gnomAD v3 gnomAD v4
1g.7663507C>ACA416026402CAMTA1c.960C>A (p.Gly320=)
c.*811C>A (n.*811C>A)
c.870C>A (p.Gly290=)
c.888C>A (p.Gly296=)
c.*729C>A (n.*729C>A)
c.948C>A (p.Gly316=)
gnomAD v4
1g.7663507C>GCA416026403CAMTA1c.960C>G (p.Gly320=)
c.*811C>G (n.*811C>G)
c.870C>G (p.Gly290=)
c.888C>G (p.Gly296=)
c.*729C>G (n.*729C>G)
c.948C>G (p.Gly316=)
1g.7663507C>TCA416026404CAMTA1c.960C>T (p.Gly320=)
c.*811C>T (n.*811C>T)
c.870C>T (p.Gly290=)
c.888C>T (p.Gly296=)
c.*729C>T (n.*729C>T)
c.948C>T (p.Gly316=)
gnomAD v4
1g.7663508T>ACA338122313CAMTA1c.961T>A (p.Ser321Thr)
c.*812T>A (n.*812T>A)
c.871T>A (p.Ser291Thr)
c.889T>A (p.Ser297Thr)
c.*730T>A (n.*730T>A)
c.949T>A (p.Ser317Thr)
gnomAD v4
1g.7663508T>CCA566339CAMTA1c.961T>C (p.Ser321Pro)
c.*812T>C (n.*812T>C)
c.871T>C (p.Ser291Pro)
c.889T>C (p.Ser297Pro)
c.*730T>C (n.*730T>C)
c.949T>C (p.Ser317Pro)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.7663508T>GCA338122315CAMTA1c.961T>G (p.Ser321Ala)
c.*812T>G (n.*812T>G)
c.871T>G (p.Ser291Ala)
c.889T>G (p.Ser297Ala)
c.*730T>G (n.*730T>G)
c.949T>G (p.Ser317Ala)
1g.7663508T=CA1152023649CAMTA1c.961T= (p.Ser321=)
c.*812T= (n.*812T=)
c.871T= (p.Ser291=)
c.889T= (p.Ser297=)
c.*730T= (n.*730T=)
c.949T= (p.Ser317=)
1g.7663509C>ACA338122318CAMTA1c.962C>A (p.Ser321Tyr)
c.*813C>A (n.*813C>A)
c.872C>A (p.Ser291Tyr)
c.890C>A (p.Ser297Tyr)
c.*731C>A (n.*731C>A)
c.950C>A (p.Ser317Tyr)
1g.7663509C>GCA338122320CAMTA1c.962C>G (p.Ser321Cys)
c.*813C>G (n.*813C>G)
c.872C>G (p.Ser291Cys)
c.890C>G (p.Ser297Cys)
c.*731C>G (n.*731C>G)
c.950C>G (p.Ser317Cys)
1g.7663509C>TCA338122321CAMTA1c.962C>T (p.Ser321Phe)
c.*813C>T (n.*813C>T)
c.872C>T (p.Ser291Phe)
c.890C>T (p.Ser297Phe)
c.*731C>T (n.*731C>T)
c.950C>T (p.Ser317Phe)
1g.7663510C>ACA416026405CAMTA1c.963C>A (p.Ser321=)
c.*814C>A (n.*814C>A)
c.873C>A (p.Ser291=)
c.891C>A (p.Ser297=)
c.*732C>A (n.*732C>A)
c.951C>A (p.Ser317=)
1g.7663510C=CA1152023650CAMTA1c.963C= (p.Ser321=)
c.*814C= (n.*814C=)
c.873C= (p.Ser291=)
c.891C= (p.Ser297=)
c.*732C= (n.*732C=)
c.951C= (p.Ser317=)
1g.7663510C>GCA416026406CAMTA1c.963C>G (p.Ser321=)
c.*814C>G (n.*814C>G)
c.873C>G (p.Ser291=)
c.891C>G (p.Ser297=)
c.*732C>G (n.*732C>G)
c.951C>G (p.Ser317=)
1g.7663510C>TCA416026407CAMTA1c.963C>T (p.Ser321=)
c.*814C>T (n.*814C>T)
c.873C>T (p.Ser291=)
c.891C>T (p.Ser297=)
c.*732C>T (n.*732C>T)
c.951C>T (p.Ser317=)
dbSNP
1g.7663511A>CCA338122322CAMTA1c.964A>C (p.Ser322Arg)
c.*815A>C (n.*815A>C)
c.874A>C (p.Ser292Arg)
c.892A>C (p.Ser298Arg)
c.*733A>C (n.*733A>C)
c.952A>C (p.Ser318Arg)
1g.7663511A>GCA338122324CAMTA1c.964A>G (p.Ser322Gly)
c.*815A>G (n.*815A>G)
c.874A>G (p.Ser292Gly)
c.892A>G (p.Ser298Gly)
c.*733A>G (n.*733A>G)
c.952A>G (p.Ser318Gly)
1g.7663511A>TCA338122325CAMTA1c.964A>T (p.Ser322Cys)
c.*815A>T (n.*815A>T)
c.874A>T (p.Ser292Cys)
c.892A>T (p.Ser298Cys)
c.*733A>T (n.*733A>T)
c.952A>T (p.Ser318Cys)
1g.7663511_7663514delinsAGCCCA1152023651CAMTA1c.964_967delinsAGCC (p.Ser322=)
c.*815_*818delinsAGCC (n.*815_*818delinsAGCC)
c.874_877delinsAGCC (p.Ser292=)
c.892_895delinsAGCC (p.Ser298=)
c.*733_*736delinsAGCC (n.*733_*736delinsAGCC)
c.952_955delinsAGCC (p.Ser318=)
1g.7663512G>ACA338122329CAMTA1c.965G>A (p.Ser322Asn)
c.*816G>A (n.*816G>A)
c.875G>A (p.Ser292Asn)
c.893G>A (p.Ser298Asn)
c.*734G>A (n.*734G>A)
c.953G>A (p.Ser318Asn)
1g.7663512G>CCA338122327CAMTA1c.965G>C (p.Ser322Thr)
c.*816G>C (n.*816G>C)
c.875G>C (p.Ser292Thr)
c.893G>C (p.Ser298Thr)
c.*734G>C (n.*734G>C)
c.953G>C (p.Ser318Thr)
dbSNP
1g.7663512G=CA1152023652CAMTA1c.965G= (p.Ser322=)
c.*816G= (n.*816G=)
c.875G= (p.Ser292=)
c.893G= (p.Ser298=)
c.*734G= (n.*734G=)
c.953G= (p.Ser318=)
1g.7663512G>TCA338122328CAMTA1c.965G>T (p.Ser322Ile)
c.*816G>T (n.*816G>T)
c.875G>T (p.Ser292Ile)
c.893G>T (p.Ser298Ile)
c.*734G>T (n.*734G>T)
c.953G>T (p.Ser318Ile)
gnomAD v4
1g.7663513_7663515delCA521019642CAMTA1c.966_968del (p.Arg323del)
c.*817_*819del (n.*817_*819del)
c.876_878del (p.Arg293del)
c.894_896del (p.Arg299del)
c.*735_*737del (n.*735_*737del)
c.954_956del (p.Arg319del)
dbSNP gnomAD v2 gnomAD v4
1g.7663513C>ACA338122331CAMTA1c.966C>A (p.Ser322Arg)
c.*817C>A (n.*817C>A)
c.876C>A (p.Ser292Arg)
c.894C>A (p.Ser298Arg)
c.*735C>A (n.*735C>A)
c.954C>A (p.Ser318Arg)
gnomAD v4
1g.7663513C>GCA338122333CAMTA1c.966C>G (p.Ser322Arg)
c.*817C>G (n.*817C>G)
c.876C>G (p.Ser292Arg)
c.894C>G (p.Ser298Arg)
c.*735C>G (n.*735C>G)
c.954C>G (p.Ser318Arg)
1g.7663513C>TCA416026408CAMTA1c.966C>T (p.Ser322=)
c.*817C>T (n.*817C>T)
c.876C>T (p.Ser292=)
c.894C>T (p.Ser298=)
c.*735C>T (n.*735C>T)
c.954C>T (p.Ser318=)
gnomAD v4
1g.7663514C>ACA338122335CAMTA1c.967C>A (p.Arg323Ser)
c.*818C>A (n.*818C>A)
c.877C>A (p.Arg293Ser)
c.895C>A (p.Arg299Ser)
c.*736C>A (n.*736C>A)
c.955C>A (p.Arg319Ser)
1g.7663514C=CA1144198674CAMTA1c.967C= (p.Arg323=)
c.*818C= (n.*818C=)
c.877C= (p.Arg293=)
c.895C= (p.Arg299=)
c.*736C= (n.*736C=)
c.955C= (p.Arg319=)
1g.7663514C>GCA566341CAMTA1c.967C>G (p.Arg323Gly)
c.*818C>G (n.*818C>G)
c.877C>G (p.Arg293Gly)
c.895C>G (p.Arg299Gly)
c.*736C>G (n.*736C>G)
c.955C>G (p.Arg319Gly)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.7663514C>TCA566340CAMTA1c.967C>T (p.Arg323Cys)
c.*818C>T (n.*818C>T)
c.877C>T (p.Arg293Cys)
c.895C>T (p.Arg299Cys)
c.*736C>T (n.*736C>T)
c.955C>T (p.Arg319Cys)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.7663515G>ACA338122338CAMTA1c.968G>A (p.Arg323His)
c.*819G>A (n.*819G>A)
c.878G>A (p.Arg293His)
c.896G>A (p.Arg299His)
c.*737G>A (n.*737G>A)
c.956G>A (p.Arg319His)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.7663515G>CCA338122339CAMTA1c.968G>C (p.Arg323Pro)
c.*819G>C (n.*819G>C)
c.878G>C (p.Arg293Pro)
c.896G>C (p.Arg299Pro)
c.*737G>C (n.*737G>C)
c.956G>C (p.Arg319Pro)
gnomAD v4
1g.7663515G=CA1152023653CAMTA1c.968G= (p.Arg323=)
c.*819G= (n.*819G=)
c.878G= (p.Arg293=)
c.896G= (p.Arg299=)
c.*737G= (n.*737G=)
c.956G= (p.Arg319=)
1g.7663515G>TCA338122341CAMTA1c.968G>T (p.Arg323Leu)
c.*819G>T (n.*819G>T)
c.878G>T (p.Arg293Leu)
c.896G>T (p.Arg299Leu)
c.*737G>T (n.*737G>T)
c.956G>T (p.Arg319Leu)
dbSNP gnomAD v4
1g.7663516T>ACA416026411CAMTA1c.969T>A (p.Arg323=)
c.*820T>A (n.*820T>A)
c.879T>A (p.Arg293=)
c.897T>A (p.Arg299=)
c.*738T>A (n.*738T>A)
c.957T>A (p.Arg319=)
dbSNP gnomAD v2 gnomAD v4
1g.7663516T>CCA416026410CAMTA1c.969T>C (p.Arg323=)
c.*820T>C (n.*820T>C)
c.879T>C (p.Arg293=)
c.897T>C (p.Arg299=)
c.*738T>C (n.*738T>C)
c.957T>C (p.Arg319=)
dbSNP gnomAD v3 gnomAD v4
1g.7663516T>GCA416026409CAMTA1c.969T>G (p.Arg323=)
c.*820T>G (n.*820T>G)
c.879T>G (p.Arg293=)
c.897T>G (p.Arg299=)
c.*738T>G (n.*738T>G)
c.957T>G (p.Arg319=)
gnomAD v4
1g.7663516T=CA1152023654CAMTA1c.969T= (p.Arg323=)
c.*820T= (n.*820T=)
c.879T= (p.Arg293=)
c.897T= (p.Arg299=)
c.*738T= (n.*738T=)
c.957T= (p.Arg319=)
1g.7663517G>ACA338122345CAMTA1c.970G>A (p.Glu324Lys)
c.*821G>A (n.*821G>A)
c.880G>A (p.Glu294Lys)
c.898G>A (p.Glu300Lys)
c.*739G>A (n.*739G>A)
c.958G>A (p.Glu320Lys)
1g.7663517G>CCA338122342CAMTA1c.970G>C (p.Glu324Gln)
c.*821G>C (n.*821G>C)
c.880G>C (p.Glu294Gln)
c.898G>C (p.Glu300Gln)
c.*739G>C (n.*739G>C)
c.958G>C (p.Glu320Gln)
1g.7663517G>TCA338122343CAMTA1c.970G>T (p.Glu324Ter)
c.*821G>T (n.*821G>T)
c.880G>T (p.Glu294Ter)
c.898G>T (p.Glu300Ter)
c.*739G>T (n.*739G>T)
c.958G>T (p.Glu320Ter)
COSMIC COSMIC
1g.7663518A>CCA338122347CAMTA1c.971A>C (p.Glu324Ala)
c.*822A>C (n.*822A>C)
c.881A>C (p.Glu294Ala)
c.899A>C (p.Glu300Ala)
c.*740A>C (n.*740A>C)
c.959A>C (p.Glu320Ala)
1g.7663518A>GCA338122348CAMTA1c.971A>G (p.Glu324Gly)
c.*822A>G (n.*822A>G)
c.881A>G (p.Glu294Gly)
c.899A>G (p.Glu300Gly)
c.*740A>G (n.*740A>G)
c.959A>G (p.Glu320Gly)
1g.7663518A>TCA338122350CAMTA1c.971A>T (p.Glu324Val)
c.*822A>T (n.*822A>T)
c.881A>T (p.Glu294Val)
c.899A>T (p.Glu300Val)
c.*740A>T (n.*740A>T)
c.959A>T (p.Glu320Val)
1g.7663519G>ACA416026412CAMTA1c.972G>A (p.Glu324=)
c.*823G>A (n.*823G>A)
c.882G>A (p.Glu294=)
c.900G>A (p.Glu300=)
c.*741G>A (n.*741G>A)
c.960G>A (p.Glu320=)
1g.7663519G>CCA338122351CAMTA1c.972G>C (p.Glu324Asp)
c.*823G>C (n.*823G>C)
c.882G>C (p.Glu294Asp)
c.900G>C (p.Glu300Asp)
c.*741G>C (n.*741G>C)
c.960G>C (p.Glu320Asp)
1g.7663519G>TCA338122353CAMTA1c.972G>T (p.Glu324Asp)
c.*823G>T (n.*823G>T)
c.882G>T (p.Glu294Asp)
c.900G>T (p.Glu300Asp)
c.*741G>T (n.*741G>T)
c.960G>T (p.Glu320Asp)
1g.7663520A>CCA338122355CAMTA1c.973A>C (p.Lys325Gln)
c.*824A>C (n.*824A>C)
c.883A>C (p.Lys295Gln)
c.901A>C (p.Lys301Gln)
c.*742A>C (n.*742A>C)
c.961A>C (p.Lys321Gln)
1g.7663520A>GCA338122359CAMTA1c.973A>G (p.Lys325Glu)
c.*824A>G (n.*824A>G)
c.883A>G (p.Lys295Glu)
c.901A>G (p.Lys301Glu)
c.*742A>G (n.*742A>G)
c.961A>G (p.Lys321Glu)
1g.7663520A>TCA338122357CAMTA1c.973A>T (p.Lys325Ter)
c.*824A>T (n.*824A>T)
c.883A>T (p.Lys295Ter)
c.901A>T (p.Lys301Ter)
c.*742A>T (n.*742A>T)
c.961A>T (p.Lys321Ter)
1g.7663521A=CA1152023655CAMTA1c.974A= (p.Lys325=)
c.*825A= (n.*825A=)
c.884A= (p.Lys295=)
c.902A= (p.Lys301=)
c.*743A= (n.*743A=)
c.962A= (p.Lys321=)
1g.7663521A>CCA338122362CAMTA1c.974A>C (p.Lys325Thr)
c.*825A>C (n.*825A>C)
c.884A>C (p.Lys295Thr)
c.902A>C (p.Lys301Thr)
c.*743A>C (n.*743A>C)
c.962A>C (p.Lys321Thr)
dbSNP gnomAD v2 gnomAD v4
1g.7663521A>GCA338122363CAMTA1c.974A>G (p.Lys325Arg)
c.*825A>G (n.*825A>G)
c.884A>G (p.Lys295Arg)
c.902A>G (p.Lys301Arg)
c.*743A>G (n.*743A>G)
c.962A>G (p.Lys321Arg)
dbSNP gnomAD v2 gnomAD v4
1g.7663521A>TCA338122364CAMTA1c.974A>T (p.Lys325Met)
c.*825A>T (n.*825A>T)
c.884A>T (p.Lys295Met)
c.902A>T (p.Lys301Met)
c.*743A>T (n.*743A>T)
c.962A>T (p.Lys321Met)
1g.7663522G>ACA566342CAMTA1c.975G>A (p.Lys325=)
c.*826G>A (n.*826G>A)
c.885G>A (p.Lys295=)
c.903G>A (p.Lys301=)
c.*744G>A (n.*744G>A)
c.963G>A (p.Lys321=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.7663522G>CCA338122367CAMTA1c.975G>C (p.Lys325Asn)
c.*826G>C (n.*826G>C)
c.885G>C (p.Lys295Asn)
c.903G>C (p.Lys301Asn)
c.*744G>C (n.*744G>C)
c.963G>C (p.Lys321Asn)
1g.7663522G=CA1152023656CAMTA1c.975G= (p.Lys325=)
c.*826G= (n.*826G=)
c.885G= (p.Lys295=)
c.903G= (p.Lys301=)
c.*744G= (n.*744G=)
c.963G= (p.Lys321=)
1g.7663522G>TCA338122369CAMTA1c.975G>T (p.Lys325Asn)
c.*826G>T (n.*826G>T)
c.885G>T (p.Lys295Asn)
c.903G>T (p.Lys301Asn)
c.*744G>T (n.*744G>T)
c.963G>T (p.Lys321Asn)
1g.7663523A>CCA416026413CAMTA1c.976A>C (p.Arg326=)
c.*827A>C (n.*827A>C)
c.886A>C (p.Arg296=)
c.904A>C (p.Arg302=)
c.*745A>C (n.*745A>C)
c.964A>C (p.Arg322=)
1g.7663523A>GCA338122371CAMTA1c.976A>G (p.Arg326Gly)
c.*827A>G (n.*827A>G)
c.886A>G (p.Arg296Gly)
c.904A>G (p.Arg302Gly)
c.*745A>G (n.*745A>G)
c.964A>G (p.Arg322Gly)
1g.7663523A>TCA338122373CAMTA1c.976A>T (p.Arg326Trp)
c.*827A>T (n.*827A>T)
c.886A>T (p.Arg296Trp)
c.904A>T (p.Arg302Trp)
c.*745A>T (n.*745A>T)
c.964A>T (p.Arg322Trp)
1g.7663524G>ACA338122375CAMTA1c.977G>A (p.Arg326Lys)
c.*828G>A (n.*828G>A)
c.887G>A (p.Arg296Lys)
c.905G>A (p.Arg302Lys)
c.*746G>A (n.*746G>A)
c.965G>A (p.Arg322Lys)
1g.7663524G>CCA338122377CAMTA1c.977G>C (p.Arg326Thr)
c.*828G>C (n.*828G>C)
c.887G>C (p.Arg296Thr)
c.905G>C (p.Arg302Thr)
c.*746G>C (n.*746G>C)
c.965G>C (p.Arg322Thr)
1g.7663524G>TCA338122380CAMTA1c.977G>T (p.Arg326Met)
c.*828G>T (n.*828G>T)
c.887G>T (p.Arg296Met)
c.905G>T (p.Arg302Met)
c.*746G>T (n.*746G>T)
c.965G>T (p.Arg322Met)
1g.7663525G>ACA416026414CAMTA1c.978G>A (p.Arg326=)
c.*829G>A (n.*829G>A)
c.888G>A (p.Arg296=)
c.906G>A (p.Arg302=)
c.*747G>A (n.*747G>A)
c.966G>A (p.Arg322=)
1g.7663525G>CCA338122387CAMTA1c.978G>C (p.Arg326Ser)
c.*829G>C (n.*829G>C)
c.888G>C (p.Arg296Ser)
c.906G>C (p.Arg302Ser)
c.*747G>C (n.*747G>C)
c.966G>C (p.Arg322Ser)
gnomAD v4
1g.7663525G>TCA338122384CAMTA1c.978G>T (p.Arg326Ser)
c.*829G>T (n.*829G>T)
c.888G>T (p.Arg296Ser)
c.906G>T (p.Arg302Ser)
c.*747G>T (n.*747G>T)
c.966G>T (p.Arg322Ser)
1g.7663526A>CCA338122394CAMTA1c.979A>C (p.Asn327His)
c.*830A>C (n.*830A>C)
c.889A>C (p.Asn297His)
c.907A>C (p.Asn303His)
c.*748A>C (n.*748A>C)
c.967A>C (p.Asn323His)
1g.7663526A>GCA338122396CAMTA1c.979A>G (p.Asn327Asp)
c.*830A>G (n.*830A>G)
c.889A>G (p.Asn297Asp)
c.907A>G (p.Asn303Asp)
c.*748A>G (n.*748A>G)
c.967A>G (p.Asn323Asp)
1g.7663526A>TCA338122398CAMTA1c.979A>T (p.Asn327Tyr)
c.*830A>T (n.*830A>T)
c.889A>T (p.Asn297Tyr)
c.907A>T (p.Asn303Tyr)
c.*748A>T (n.*748A>T)
c.967A>T (p.Asn323Tyr)
1g.7663527A>CCA338122400CAMTA1c.980A>C (p.Asn327Thr)
c.*831A>C (n.*831A>C)
c.890A>C (p.Asn297Thr)
c.908A>C (p.Asn303Thr)
c.*749A>C (n.*749A>C)
c.968A>C (p.Asn323Thr)
1g.7663527A>GCA338122401CAMTA1c.980A>G (p.Asn327Ser)
c.*831A>G (n.*831A>G)
c.890A>G (p.Asn297Ser)
c.908A>G (p.Asn303Ser)
c.*749A>G (n.*749A>G)
c.968A>G (p.Asn323Ser)
1g.7663527A>TCA338122404CAMTA1c.980A>T (p.Asn327Ile)
c.*831A>T (n.*831A>T)
c.890A>T (p.Asn297Ile)
c.908A>T (p.Asn303Ile)
c.*749A>T (n.*749A>T)
c.968A>T (p.Asn323Ile)
1g.7663528C>ACA338122408CAMTA1c.981C>A (p.Asn327Lys)
c.*832C>A (n.*832C>A)
c.891C>A (p.Asn297Lys)
c.909C>A (p.Asn303Lys)
c.*750C>A (n.*750C>A)
c.969C>A (p.Asn323Lys)
1g.7663528C=CA1139990301CAMTA1c.981C= (p.Asn327=)
c.*832C= (n.*832C=)
c.891C= (p.Asn297=)
c.909C= (p.Asn303=)
c.*750C= (n.*750C=)
c.969C= (p.Asn323=)
1g.7663528C>GCA338122407CAMTA1c.981C>G (p.Asn327Lys)
c.*832C>G (n.*832C>G)
c.891C>G (p.Asn297Lys)
c.909C>G (p.Asn303Lys)
c.*750C>G (n.*750C>G)
c.969C>G (p.Asn323Lys)
gnomAD v4
1g.7663528C>TCA152136CAMTA1c.981C>T (p.Asn327=)
c.*832C>T (n.*832C>T)
c.891C>T (p.Asn297=)
c.909C>T (p.Asn303=)
c.*750C>T (n.*750C>T)
c.969C>T (p.Asn323=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.7663529G>ACA566343CAMTA1c.982G>A (p.Gly328Ser)
c.*833G>A (n.*833G>A)
c.892G>A (p.Gly298Ser)
c.910G>A (p.Gly304Ser)
c.*751G>A (n.*751G>A)
c.970G>A (p.Gly324Ser)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
1g.7663529G>CCA566344CAMTA1c.982G>C (p.Gly328Arg)
c.*833G>C (n.*833G>C)
c.892G>C (p.Gly298Arg)
c.910G>C (p.Gly304Arg)
c.*751G>C (n.*751G>C)
c.970G>C (p.Gly324Arg)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.7663529G=CA1143486532CAMTA1c.982G= (p.Gly328=)
c.*833G= (n.*833G=)
c.892G= (p.Gly298=)
c.910G= (p.Gly304=)
c.*751G= (n.*751G=)
c.970G= (p.Gly324=)
1g.7663529G>TCA338122415CAMTA1c.982G>T (p.Gly328Cys)
c.*833G>T (n.*833G>T)
c.892G>T (p.Gly298Cys)
c.910G>T (p.Gly304Cys)
c.*751G>T (n.*751G>T)
c.970G>T (p.Gly324Cys)
1g.7663530G>ACA338122417CAMTA1c.983G>A (p.Gly328Asp)
c.*834G>A (n.*834G>A)
c.893G>A (p.Gly298Asp)
c.911G>A (p.Gly304Asp)
c.*752G>A (n.*752G>A)
c.971G>A (p.Gly324Asp)
gnomAD v4
1g.7663530G>CCA338122421CAMTA1c.983G>C (p.Gly328Ala)
c.*834G>C (n.*834G>C)
c.893G>C (p.Gly298Ala)
c.911G>C (p.Gly304Ala)
c.*752G>C (n.*752G>C)
c.971G>C (p.Gly324Ala)
1g.7663530G>TCA338122424CAMTA1c.983G>T (p.Gly328Val)
c.*834G>T (n.*834G>T)
c.893G>T (p.Gly298Val)
c.911G>T (p.Gly304Val)
c.*752G>T (n.*752G>T)
c.971G>T (p.Gly324Val)
1g.7663531C>ACA416026415CAMTA1c.984C>A (p.Gly328=)
c.*835C>A (n.*835C>A)
c.894C>A (p.Gly298=)
c.912C>A (p.Gly304=)
c.*753C>A (n.*753C>A)
c.972C>A (p.Gly324=)
1g.7663531C>GCA416026416CAMTA1c.984C>G (p.Gly328=)
c.*835C>G (n.*835C>G)
c.894C>G (p.Gly298=)
c.912C>G (p.Gly304=)
c.*753C>G (n.*753C>G)
c.972C>G (p.Gly324=)
1g.7663531C>TCA416026417CAMTA1c.984C>T (p.Gly328=)
c.*835C>T (n.*835C>T)
c.894C>T (p.Gly298=)
c.912C>T (p.Gly304=)
c.*753C>T (n.*753C>T)
c.972C>T (p.Gly324=)
1g.7663532A>CCA338122426CAMTA1c.985A>C (p.Lys329Gln)
c.*836A>C (n.*836A>C)
c.895A>C (p.Lys299Gln)
c.913A>C (p.Lys305Gln)
c.*754A>C (n.*754A>C)
c.973A>C (p.Lys325Gln)
1g.7663532A>GCA338122437CAMTA1c.985A>G (p.Lys329Glu)
c.*836A>G (n.*836A>G)
c.895A>G (p.Lys299Glu)
c.913A>G (p.Lys305Glu)
c.*754A>G (n.*754A>G)
c.973A>G (p.Lys325Glu)
1g.7663532A>TCA338122429CAMTA1c.985A>T (p.Lys329Ter)
c.*836A>T (n.*836A>T)
c.895A>T (p.Lys299Ter)
c.913A>T (p.Lys305Ter)
c.*754A>T (n.*754A>T)
c.973A>T (p.Lys325Ter)
1g.7663533A=CA1142407558CAMTA1c.986A= (p.Lys329=)
c.*837A= (n.*837A=)
c.896A= (p.Lys299=)
c.914A= (p.Lys305=)
c.*755A= (n.*755A=)
c.974A= (p.Lys325=)
1g.7663533A>CCA338122440CAMTA1c.986A>C (p.Lys329Thr)
c.*837A>C (n.*837A>C)
c.896A>C (p.Lys299Thr)
c.914A>C (p.Lys305Thr)
c.*755A>C (n.*755A>C)
c.974A>C (p.Lys325Thr)
1g.7663533A>GCA566345CAMTA1c.986A>G (p.Lys329Arg)
c.*837A>G (n.*837A>G)
c.896A>G (p.Lys299Arg)
c.914A>G (p.Lys305Arg)
c.*755A>G (n.*755A>G)
c.974A>G (p.Lys325Arg)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.7663533A>TCA338122444CAMTA1c.986A>T (p.Lys329Met)
c.*837A>T (n.*837A>T)
c.896A>T (p.Lys299Met)
c.914A>T (p.Lys305Met)
c.*755A>T (n.*755A>T)
c.974A>T (p.Lys325Met)
1g.7663534G>ACA416026418CAMTA1c.987G>A (p.Lys329=)
c.*838G>A (n.*838G>A)
c.897G>A (p.Lys299=)
c.915G>A (p.Lys305=)
c.*756G>A (n.*756G>A)
c.975G>A (p.Lys325=)
1g.7663534G>CCA338122447CAMTA1c.987G>C (p.Lys329Asn)
c.*838G>C (n.*838G>C)
c.897G>C (p.Lys299Asn)
c.915G>C (p.Lys305Asn)
c.*756G>C (n.*756G>C)
c.975G>C (p.Lys325Asn)
1g.7663534G>TCA338122448CAMTA1c.987G>T (p.Lys329Asn)
c.*838G>T (n.*838G>T)
c.897G>T (p.Lys299Asn)
c.915G>T (p.Lys305Asn)
c.*756G>T (n.*756G>T)
c.975G>T (p.Lys325Asn)
1g.7663535G>ACA338122449CAMTA1c.988G>A (p.Val330Met)
c.*839G>A (n.*839G>A)
c.898G>A (p.Val300Met)
c.916G>A (p.Val306Met)
c.*757G>A (n.*757G>A)
c.976G>A (p.Val326Met)
1g.7663535G>CCA338122451CAMTA1c.988G>C (p.Val330Leu)
c.*839G>C (n.*839G>C)
c.898G>C (p.Val300Leu)
c.916G>C (p.Val306Leu)
c.*757G>C (n.*757G>C)
c.976G>C (p.Val326Leu)
1g.7663535G>TCA338122452CAMTA1c.988G>T (p.Val330Leu)
c.*839G>T (n.*839G>T)
c.898G>T (p.Val300Leu)
c.916G>T (p.Val306Leu)
c.*757G>T (n.*757G>T)
c.976G>T (p.Val326Leu)
gnomAD v4

Number of alleles fetched