Chr Mutation (hg38) CAid Gene Transcript Linkouts
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)
ClinVar 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)
ClinVar 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
1g.7663536T>ACA338122453CAMTA1c.989T>A (p.Val330Glu)
c.*840T>A (n.*840T>A)
c.899T>A (p.Val300Glu)
c.917T>A (p.Val306Glu)
c.*758T>A (n.*758T>A)
c.977T>A (p.Val326Glu)
1g.7663536T>CCA338122455CAMTA1c.989T>C (p.Val330Ala)
c.*840T>C (n.*840T>C)
c.899T>C (p.Val300Ala)
c.917T>C (p.Val306Ala)
c.*758T>C (n.*758T>C)
c.977T>C (p.Val326Ala)
1g.7663536T>GCA566346CAMTA1c.989T>G (p.Val330Gly)
c.*840T>G (n.*840T>G)
c.899T>G (p.Val300Gly)
c.917T>G (p.Val306Gly)
c.*758T>G (n.*758T>G)
c.977T>G (p.Val326Gly)
dbSNP ExAC gnomAD v2
1g.7663536T=CA1152023657CAMTA1c.989T= (p.Val330=)
c.*840T= (n.*840T=)
c.899T= (p.Val300=)
c.917T= (p.Val306=)
c.*758T= (n.*758T=)
c.977T= (p.Val326=)
1g.7663537G>ACA566347CAMTA1c.990G>A (p.Val330=)
c.*841G>A (n.*841G>A)
c.900G>A (p.Val300=)
c.918G>A (p.Val306=)
c.*759G>A (n.*759G>A)
c.978G>A (p.Val326=)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.7663537G>CCA416026419CAMTA1c.990G>C (p.Val330=)
c.*841G>C (n.*841G>C)
c.900G>C (p.Val300=)
c.918G>C (p.Val306=)
c.*759G>C (n.*759G>C)
c.978G>C (p.Val326=)
1g.7663537G=CA1152023658CAMTA1c.990G= (p.Val330=)
c.*841G= (n.*841G=)
c.900G= (p.Val300=)
c.918G= (p.Val306=)
c.*759G= (n.*759G=)
c.978G= (p.Val326=)
1g.7663537G>TCA416026420CAMTA1c.990G>T (p.Val330=)
c.*841G>T (n.*841G>T)
c.900G>T (p.Val300=)
c.918G>T (p.Val306=)
c.*759G>T (n.*759G>T)
c.978G>T (p.Val326=)
1g.7663538G>ACA338122459CAMTA1c.991G>A (p.Ala331Thr)
c.*842G>A (n.*842G>A)
c.901G>A (p.Ala301Thr)
c.919G>A (p.Ala307Thr)
c.*760G>A (n.*760G>A)
c.979G>A (p.Ala327Thr)
1g.7663538G>CCA338122464CAMTA1c.991G>C (p.Ala331Pro)
c.*842G>C (n.*842G>C)
c.901G>C (p.Ala301Pro)
c.919G>C (p.Ala307Pro)
c.*760G>C (n.*760G>C)
c.979G>C (p.Ala327Pro)
1g.7663538G>TCA338122461CAMTA1c.991G>T (p.Ala331Ser)
c.*842G>T (n.*842G>T)
c.901G>T (p.Ala301Ser)
c.919G>T (p.Ala307Ser)
c.*760G>T (n.*760G>T)
c.979G>T (p.Ala327Ser)
1g.7663539C>ACA338122466CAMTA1c.992C>A (p.Ala331Asp)
c.*843C>A (n.*843C>A)
c.902C>A (p.Ala301Asp)
c.920C>A (p.Ala307Asp)
c.*761C>A (n.*761C>A)
c.980C>A (p.Ala327Asp)
1g.7663539C>GCA338122468CAMTA1c.992C>G (p.Ala331Gly)
c.*843C>G (n.*843C>G)
c.902C>G (p.Ala301Gly)
c.920C>G (p.Ala307Gly)
c.*761C>G (n.*761C>G)
c.980C>G (p.Ala327Gly)
1g.7663539C>TCA338122467CAMTA1c.992C>T (p.Ala331Val)
c.*843C>T (n.*843C>T)
c.902C>T (p.Ala301Val)
c.920C>T (p.Ala307Val)
c.*761C>T (n.*761C>T)
c.980C>T (p.Ala327Val)
gnomAD v4
1g.7663540C>ACA416026423CAMTA1c.993C>A (p.Ala331=)
c.*844C>A (n.*844C>A)
c.903C>A (p.Ala301=)
c.921C>A (p.Ala307=)
c.*762C>A (n.*762C>A)
c.981C>A (p.Ala327=)
1g.7663540C>GCA416026421CAMTA1c.993C>G (p.Ala331=)
c.*844C>G (n.*844C>G)
c.903C>G (p.Ala301=)
c.921C>G (p.Ala307=)
c.*762C>G (n.*762C>G)
c.981C>G (p.Ala327=)
1g.7663540C>TCA416026422CAMTA1c.993C>T (p.Ala331=)
c.*844C>T (n.*844C>T)
c.903C>T (p.Ala301=)
c.921C>T (p.Ala307=)
c.*762C>T (n.*762C>T)
c.981C>T (p.Ala327=)
1g.7663541A>CCA338122469CAMTA1c.994A>C (p.Lys332Gln)
c.*845A>C (n.*845A>C)
c.904A>C (p.Lys302Gln)
c.922A>C (p.Lys308Gln)
c.*763A>C (n.*763A>C)
c.982A>C (p.Lys328Gln)
1g.7663541A>GCA338122472CAMTA1c.994A>G (p.Lys332Glu)
c.*845A>G (n.*845A>G)
c.904A>G (p.Lys302Glu)
c.922A>G (p.Lys308Glu)
c.*763A>G (n.*763A>G)
c.982A>G (p.Lys328Glu)
1g.7663541A>TCA338122470CAMTA1c.994A>T (p.Lys332Ter)
c.*845A>T (n.*845A>T)
c.904A>T (p.Lys302Ter)
c.922A>T (p.Lys308Ter)
c.*763A>T (n.*763A>T)
c.982A>T (p.Lys328Ter)
1g.7663542A>CCA338122475CAMTA1c.995A>C (p.Lys332Thr)
c.*846A>C (n.*846A>C)
c.905A>C (p.Lys302Thr)
c.923A>C (p.Lys308Thr)
c.*764A>C (n.*764A>C)
c.983A>C (p.Lys328Thr)
1g.7663542A>GCA338122481CAMTA1c.995A>G (p.Lys332Arg)
c.*846A>G (n.*846A>G)
c.905A>G (p.Lys302Arg)
c.923A>G (p.Lys308Arg)
c.*764A>G (n.*764A>G)
c.983A>G (p.Lys328Arg)
1g.7663542A>TCA338122483CAMTA1c.995A>T (p.Lys332Met)
c.*846A>T (n.*846A>T)
c.905A>T (p.Lys302Met)
c.923A>T (p.Lys308Met)
c.*764A>T (n.*764A>T)
c.983A>T (p.Lys328Met)
1g.7663543G>ACA416026424CAMTA1c.996G>A (p.Lys332=)
c.*847G>A (n.*847G>A)
c.906G>A (p.Lys302=)
c.924G>A (p.Lys308=)
c.*765G>A (n.*765G>A)
c.984G>A (p.Lys328=)
1g.7663543G>CCA338122486CAMTA1c.996G>C (p.Lys332Asn)
c.*847G>C (n.*847G>C)
c.906G>C (p.Lys302Asn)
c.924G>C (p.Lys308Asn)
c.*765G>C (n.*765G>C)
c.984G>C (p.Lys328Asn)
1g.7663543G>TCA338122488CAMTA1c.996G>T (p.Lys332Asn)
c.*847G>T (n.*847G>T)
c.906G>T (p.Lys302Asn)
c.924G>T (p.Lys308Asn)
c.*765G>T (n.*765G>T)
c.984G>T (p.Lys328Asn)
1g.7663544C>ACA338122491CAMTA1c.997C>A (p.Pro333Thr)
c.*848C>A (n.*848C>A)
c.907C>A (p.Pro303Thr)
c.925C>A (p.Pro309Thr)
c.*766C>A (n.*766C>A)
c.985C>A (p.Pro329Thr)
dbSNP gnomAD v2 gnomAD v4
1g.7663544C=CA1152023659CAMTA1c.997C= (p.Pro333=)
c.*848C= (n.*848C=)
c.907C= (p.Pro303=)
c.925C= (p.Pro309=)
c.*766C= (n.*766C=)
c.985C= (p.Pro329=)
1g.7663544C>GCA338122494CAMTA1c.997C>G (p.Pro333Ala)
c.*848C>G (n.*848C>G)
c.907C>G (p.Pro303Ala)
c.925C>G (p.Pro309Ala)
c.*766C>G (n.*766C>G)
c.985C>G (p.Pro329Ala)
1g.7663544C>TCA338122495CAMTA1c.997C>T (p.Pro333Ser)
c.*848C>T (n.*848C>T)
c.907C>T (p.Pro303Ser)
c.925C>T (p.Pro309Ser)
c.*766C>T (n.*766C>T)
c.985C>T (p.Pro329Ser)
dbSNP gnomAD v4
1g.7663545C>ACA338122498CAMTA1c.998C>A (p.Pro333His)
c.*849C>A (n.*849C>A)
c.908C>A (p.Pro303His)
c.926C>A (p.Pro309His)
c.*767C>A (n.*767C>A)
c.986C>A (p.Pro329His)
1g.7663545C>GCA338122500CAMTA1c.998C>G (p.Pro333Arg)
c.*849C>G (n.*849C>G)
c.908C>G (p.Pro303Arg)
c.926C>G (p.Pro309Arg)
c.*767C>G (n.*767C>G)
c.986C>G (p.Pro329Arg)
1g.7663545C>TCA338122502CAMTA1c.998C>T (p.Pro333Leu)
c.*849C>T (n.*849C>T)
c.908C>T (p.Pro303Leu)
c.926C>T (p.Pro309Leu)
c.*767C>T (n.*767C>T)
c.986C>T (p.Pro329Leu)
1g.7663546C>ACA416026425CAMTA1c.999C>A (p.Pro333=)
c.*850C>A (n.*850C>A)
c.909C>A (p.Pro303=)
c.927C>A (p.Pro309=)
c.*768C>A (n.*768C>A)
c.987C>A (p.Pro329=)
1g.7663546C=CA1152023660CAMTA1c.999C= (p.Pro333=)
c.*850C= (n.*850C=)
c.909C= (p.Pro303=)
c.927C= (p.Pro309=)
c.*768C= (n.*768C=)
c.987C= (p.Pro329=)
1g.7663546C>GCA416026426CAMTA1c.999C>G (p.Pro333=)
c.*850C>G (n.*850C>G)
c.909C>G (p.Pro303=)
c.927C>G (p.Pro309=)
c.*768C>G (n.*768C>G)
c.987C>G (p.Pro329=)
dbSNP gnomAD v3 gnomAD v4
1g.7663546C>TCA566348CAMTA1c.999C>T (p.Pro333=)
c.*850C>T (n.*850C>T)
c.909C>T (p.Pro303=)
c.927C>T (p.Pro309=)
c.*768C>T (n.*768C>T)
c.987C>T (p.Pro329=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.7663547G>ACA566349CAMTA1c.1000G>A (p.Val334Met)
c.*851G>A (n.*851G>A)
c.910G>A (p.Val304Met)
c.928G>A (p.Val310Met)
c.*769G>A (n.*769G>A)
c.988G>A (p.Val330Met)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.7663547G>CCA338122509CAMTA1c.1000G>C (p.Val334Leu)
c.*851G>C (n.*851G>C)
c.910G>C (p.Val304Leu)
c.928G>C (p.Val310Leu)
c.*769G>C (n.*769G>C)
c.988G>C (p.Val330Leu)
1g.7663547G=CA1142127494CAMTA1c.1000G= (p.Val334=)
c.*851G= (n.*851G=)
c.910G= (p.Val304=)
c.928G= (p.Val310=)
c.*769G= (n.*769G=)
c.988G= (p.Val330=)
1g.7663547G>TCA338122508CAMTA1c.1000G>T (p.Val334Leu)
c.*851G>T (n.*851G>T)
c.910G>T (p.Val304Leu)
c.928G>T (p.Val310Leu)
c.*769G>T (n.*769G>T)
c.988G>T (p.Val330Leu)
1g.7663548T>ACA338122512CAMTA1c.1001T>A (p.Val334Glu)
c.*852T>A (n.*852T>A)
c.911T>A (p.Val304Glu)
c.929T>A (p.Val310Glu)
c.*770T>A (n.*770T>A)
c.989T>A (p.Val330Glu)
1g.7663548T>CCA338122513CAMTA1c.1001T>C (p.Val334Ala)
c.*852T>C (n.*852T>C)
c.911T>C (p.Val304Ala)
c.929T>C (p.Val310Ala)
c.*770T>C (n.*770T>C)
c.989T>C (p.Val330Ala)
dbSNP
1g.7663548T>GCA338122515CAMTA1c.1001T>G (p.Val334Gly)
c.*852T>G (n.*852T>G)
c.911T>G (p.Val304Gly)
c.929T>G (p.Val310Gly)
c.*770T>G (n.*770T>G)
c.989T>G (p.Val330Gly)
1g.7663549G>ACA416026427CAMTA1c.1002G>A (p.Val334=)
c.*853G>A (n.*853G>A)
c.912G>A (p.Val304=)
c.930G>A (p.Val310=)
c.*771G>A (n.*771G>A)
c.990G>A (p.Val330=)
gnomAD v4
1g.7663549G>CCA416026428CAMTA1c.1002G>C (p.Val334=)
c.*853G>C (n.*853G>C)
c.912G>C (p.Val304=)
c.930G>C (p.Val310=)
c.*771G>C (n.*771G>C)
c.990G>C (p.Val330=)
dbSNP gnomAD v3 gnomAD v4
1g.7663549G=CA1152023661CAMTA1c.1002G= (p.Val334=)
c.*853G= (n.*853G=)
c.912G= (p.Val304=)
c.930G= (p.Val310=)
c.*771G= (n.*771G=)
c.990G= (p.Val330=)
1g.7663549G>TCA416026429CAMTA1c.1002G>T (p.Val334=)
c.*853G>T (n.*853G>T)
c.912G>T (p.Val304=)
c.930G>T (p.Val310=)
c.*771G>T (n.*771G>T)
c.990G>T (p.Val330=)
1g.7663550C>ACA338122518CAMTA1c.1003C>A (p.Leu335Ile)
c.*854C>A (n.*854C>A)
c.913C>A (p.Leu305Ile)
c.931C>A (p.Leu311Ile)
c.*772C>A (n.*772C>A)
c.991C>A (p.Leu331Ile)
gnomAD v4
1g.7663550C>GCA338122520CAMTA1c.1003C>G (p.Leu335Val)
c.*854C>G (n.*854C>G)
c.913C>G (p.Leu305Val)
c.931C>G (p.Leu311Val)
c.*772C>G (n.*772C>G)
c.991C>G (p.Leu331Val)
1g.7663550C>TCA338122521CAMTA1c.1003C>T (p.Leu335Phe)
c.*854C>T (n.*854C>T)
c.913C>T (p.Leu305Phe)
c.931C>T (p.Leu311Phe)
c.*772C>T (n.*772C>T)
c.991C>T (p.Leu331Phe)
1g.7663551T>ACA338122525CAMTA1c.1004T>A (p.Leu335His)
c.*855T>A (n.*855T>A)
c.914T>A (p.Leu305His)
c.932T>A (p.Leu311His)
c.*773T>A (n.*773T>A)
c.992T>A (p.Leu331His)
1g.7663551T>CCA338122526CAMTA1c.1004T>C (p.Leu335Pro)
c.*855T>C (n.*855T>C)
c.914T>C (p.Leu305Pro)
c.932T>C (p.Leu311Pro)
c.*773T>C (n.*773T>C)
c.992T>C (p.Leu331Pro)
1g.7663551T>GCA338122528CAMTA1c.1004T>G (p.Leu335Arg)
c.*855T>G (n.*855T>G)
c.914T>G (p.Leu305Arg)
c.932T>G (p.Leu311Arg)
c.*773T>G (n.*773T>G)
c.992T>G (p.Leu331Arg)
1g.7663552C>ACA416026430CAMTA1c.1005C>A (p.Leu335=)
c.*856C>A (n.*856C>A)
c.915C>A (p.Leu305=)
c.933C>A (p.Leu311=)
c.*774C>A (n.*774C>A)
c.993C>A (p.Leu331=)
1g.7663552C=CA1152023662CAMTA1c.1005C= (p.Leu335=)
c.*856C= (n.*856C=)
c.915C= (p.Leu305=)
c.933C= (p.Leu311=)
c.*774C= (n.*774C=)
c.993C= (p.Leu331=)
1g.7663552C>GCA566350CAMTA1c.1005C>G (p.Leu335=)
c.*856C>G (n.*856C>G)
c.915C>G (p.Leu305=)
c.933C>G (p.Leu311=)
c.*774C>G (n.*774C>G)
c.993C>G (p.Leu331=)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.7663552C>TCA416026431CAMTA1c.1005C>T (p.Leu335=)
c.*856C>T (n.*856C>T)
c.915C>T (p.Leu305=)
c.933C>T (p.Leu311=)
c.*774C>T (n.*774C>T)
c.993C>T (p.Leu331=)
dbSNP gnomAD v2 gnomAD v4
1g.7663553C>ACA338122535CAMTA1c.1006C>A (p.Leu336Met)
c.*857C>A (n.*857C>A)
c.916C>A (p.Leu306Met)
c.934C>A (p.Leu312Met)
c.*775C>A (n.*775C>A)
c.994C>A (p.Leu332Met)
1g.7663553C>GCA338122532CAMTA1c.1006C>G (p.Leu336Val)
c.*857C>G (n.*857C>G)
c.916C>G (p.Leu306Val)
c.934C>G (p.Leu312Val)
c.*775C>G (n.*775C>G)
c.994C>G (p.Leu332Val)
gnomAD v4
1g.7663553C>TCA416026432CAMTA1c.1006C>T (p.Leu336=)
c.*857C>T (n.*857C>T)
c.916C>T (p.Leu306=)
c.934C>T (p.Leu312=)
c.*775C>T (n.*775C>T)
c.994C>T (p.Leu332=)
gnomAD v4
1g.7663554T>ACA338122536CAMTA1c.1007T>A (p.Leu336Gln)
c.*858T>A (n.*858T>A)
c.917T>A (p.Leu306Gln)
c.935T>A (p.Leu312Gln)
c.*776T>A (n.*776T>A)
c.995T>A (p.Leu332Gln)
1g.7663554T>CCA338122538CAMTA1c.1007T>C (p.Leu336Pro)
c.*858T>C (n.*858T>C)
c.917T>C (p.Leu306Pro)
c.935T>C (p.Leu312Pro)
c.*776T>C (n.*776T>C)
c.995T>C (p.Leu332Pro)
1g.7663554T>GCA338122540CAMTA1c.1007T>G (p.Leu336Arg)
c.*858T>G (n.*858T>G)
c.917T>G (p.Leu306Arg)
c.935T>G (p.Leu312Arg)
c.*776T>G (n.*776T>G)
c.995T>G (p.Leu332Arg)
1g.7663555G>ACA566351CAMTA1c.1008G>A (p.Leu336=)
c.*859G>A (n.*859G>A)
c.918G>A (p.Leu306=)
c.936G>A (p.Leu312=)
c.*777G>A (n.*777G>A)
c.996G>A (p.Leu332=)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.7663555G>CCA416026433CAMTA1c.1008G>C (p.Leu336=)
c.*859G>C (n.*859G>C)
c.918G>C (p.Leu306=)
c.936G>C (p.Leu312=)
c.*777G>C (n.*777G>C)
c.996G>C (p.Leu332=)
1g.7663555G=CA1152023663CAMTA1c.1008G= (p.Leu336=)
c.*859G= (n.*859G=)
c.918G= (p.Leu306=)
c.936G= (p.Leu312=)
c.*777G= (n.*777G=)
c.996G= (p.Leu332=)
1g.7663555G>TCA416026434CAMTA1c.1008G>T (p.Leu336=)
c.*859G>T (n.*859G>T)
c.918G>T (p.Leu306=)
c.936G>T (p.Leu312=)
c.*777G>T (n.*777G>T)
c.996G>T (p.Leu332=)
1g.7663556C>ACA338122544CAMTA1c.1009C>A (p.His337Asn)
c.*860C>A (n.*860C>A)
c.919C>A (p.His307Asn)
c.937C>A (p.His313Asn)
c.*778C>A (n.*778C>A)
c.997C>A (p.His333Asn)
1g.7663556C>GCA338122547CAMTA1c.1009C>G (p.His337Asp)
c.*860C>G (n.*860C>G)
c.919C>G (p.His307Asp)
c.937C>G (p.His313Asp)
c.*778C>G (n.*778C>G)
c.997C>G (p.His333Asp)
1g.7663556C>TCA338122549CAMTA1c.1009C>T (p.His337Tyr)
c.*860C>T (n.*860C>T)
c.919C>T (p.His307Tyr)
c.937C>T (p.His313Tyr)
c.*778C>T (n.*778C>T)
c.997C>T (p.His333Tyr)
1g.7663557A>CCA338122552CAMTA1c.1010A>C (p.His337Pro)
c.*861A>C (n.*861A>C)
c.920A>C (p.His307Pro)
c.938A>C (p.His313Pro)
c.*779A>C (n.*779A>C)
c.998A>C (p.His333Pro)
1g.7663557A>GCA338122555CAMTA1c.1010A>G (p.His337Arg)
c.*861A>G (n.*861A>G)
c.920A>G (p.His307Arg)
c.938A>G (p.His313Arg)
c.*779A>G (n.*779A>G)
c.998A>G (p.His333Arg)
1g.7663557A>TCA338122557CAMTA1c.1010A>T (p.His337Leu)
c.*861A>T (n.*861A>T)
c.920A>T (p.His307Leu)
c.938A>T (p.His313Leu)
c.*779A>T (n.*779A>T)
c.998A>T (p.His333Leu)
1g.7663558C>ACA338122559CAMTA1c.1011C>A (p.His337Gln)
c.*862C>A (n.*862C>A)
c.921C>A (p.His307Gln)
c.939C>A (p.His313Gln)
c.*780C>A (n.*780C>A)
c.999C>A (p.His333Gln)
dbSNP gnomAD v3 gnomAD v4
1g.7663558C>GCA338122563CAMTA1c.1011C>G (p.His337Gln)
c.*862C>G (n.*862C>G)
c.921C>G (p.His307Gln)
c.939C>G (p.His313Gln)
c.*780C>G (n.*780C>G)
c.999C>G (p.His333Gln)
1g.7663558C>TCA416026435CAMTA1c.1011C>T (p.His337=)
c.*862C>T (n.*862C>T)
c.921C>T (p.His307=)
c.939C>T (p.His313=)
c.*780C>T (n.*780C>T)
c.999C>T (p.His333=)
1g.7663559C>ACA338122572CAMTA1c.1012C>A (p.Gln338Lys)
c.*863C>A (n.*863C>A)
c.922C>A (p.Gln308Lys)
c.940C>A (p.Gln314Lys)
c.*781C>A (n.*781C>A)
c.1000C>A (p.Gln334Lys)
1g.7663559C>GCA338122573CAMTA1c.1012C>G (p.Gln338Glu)
c.*863C>G (n.*863C>G)
c.922C>G (p.Gln308Glu)
c.940C>G (p.Gln314Glu)
c.*781C>G (n.*781C>G)
c.1000C>G (p.Gln334Glu)
1g.7663559C>TCA338122568CAMTA1c.1012C>T (p.Gln338Ter)
c.*863C>T (n.*863C>T)
c.922C>T (p.Gln308Ter)
c.940C>T (p.Gln314Ter)
c.*781C>T (n.*781C>T)
c.1000C>T (p.Gln334Ter)
1g.7663560A>CCA338122574CAMTA1c.1013A>C (p.Gln338Pro)
c.*864A>C (n.*864A>C)
c.923A>C (p.Gln308Pro)
c.941A>C (p.Gln314Pro)
c.*782A>C (n.*782A>C)
c.1001A>C (p.Gln334Pro)
1g.7663560A>GCA338122575CAMTA1c.1013A>G (p.Gln338Arg)
c.*864A>G (n.*864A>G)
c.923A>G (p.Gln308Arg)
c.941A>G (p.Gln314Arg)
c.*782A>G (n.*782A>G)
c.1001A>G (p.Gln334Arg)
1g.7663560A>TCA338122576CAMTA1c.1013A>T (p.Gln338Leu)
c.*864A>T (n.*864A>T)
c.923A>T (p.Gln308Leu)
c.941A>T (p.Gln314Leu)
c.*782A>T (n.*782A>T)
c.1001A>T (p.Gln334Leu)
1g.7663561G>ACA416026436CAMTA1c.1014G>A (p.Gln338=)
c.*865G>A (n.*865G>A)
c.924G>A (p.Gln308=)
c.942G>A (p.Gln314=)
c.*783G>A (n.*783G>A)
c.1002G>A (p.Gln334=)
1g.7663561G>CCA338122577CAMTA1c.1014G>C (p.Gln338His)
c.*865G>C (n.*865G>C)
c.924G>C (p.Gln308His)
c.942G>C (p.Gln314His)
c.*783G>C (n.*783G>C)
c.1002G>C (p.Gln334His)
dbSNP
1g.7663561G=CA1152023664CAMTA1c.1014G= (p.Gln338=)
c.*865G= (n.*865G=)
c.924G= (p.Gln308=)
c.942G= (p.Gln314=)
c.*783G= (n.*783G=)
c.1002G= (p.Gln334=)
1g.7663561G>TCA338122578CAMTA1c.1014G>T (p.Gln338His)
c.*865G>T (n.*865G>T)
c.924G>T (p.Gln308His)
c.942G>T (p.Gln314His)
c.*783G>T (n.*783G>T)
c.1002G>T (p.Gln334His)
1g.7663562A=CA1152023665CAMTA1c.1015A= (p.Ser339=)
c.*866A= (n.*866A=)
c.925A= (p.Ser309=)
c.943A= (p.Ser315=)
c.*784A= (n.*784A=)
c.1003A= (p.Ser335=)
1g.7663562A>CCA338122582CAMTA1c.1015A>C (p.Ser339Arg)
c.*866A>C (n.*866A>C)
c.925A>C (p.Ser309Arg)
c.943A>C (p.Ser315Arg)
c.*784A>C (n.*784A>C)
c.1003A>C (p.Ser335Arg)
1g.7663562A>GCA566352CAMTA1c.1015A>G (p.Ser339Gly)
c.*866A>G (n.*866A>G)
c.925A>G (p.Ser309Gly)
c.943A>G (p.Ser315Gly)
c.*784A>G (n.*784A>G)
c.1003A>G (p.Ser335Gly)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.7663562A>TCA338122580CAMTA1c.1015A>T (p.Ser339Cys)
c.*866A>T (n.*866A>T)
c.925A>T (p.Ser309Cys)
c.943A>T (p.Ser315Cys)
c.*784A>T (n.*784A>T)
c.1003A>T (p.Ser335Cys)
1g.7663563G>ACA566354CAMTA1c.1016G>A (p.Ser339Asn)
c.*867G>A (n.*867G>A)
c.926G>A (p.Ser309Asn)
c.944G>A (p.Ser315Asn)
c.*785G>A (n.*785G>A)
c.1004G>A (p.Ser335Asn)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.7663563G>CCA566353CAMTA1c.1016G>C (p.Ser339Thr)
c.*867G>C (n.*867G>C)
c.926G>C (p.Ser309Thr)
c.944G>C (p.Ser315Thr)
c.*785G>C (n.*785G>C)
c.1004G>C (p.Ser335Thr)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.7663563G=CA1152023666CAMTA1c.1016G= (p.Ser339=)
c.*867G= (n.*867G=)
c.926G= (p.Ser309=)
c.944G= (p.Ser315=)
c.*785G= (n.*785G=)
c.1004G= (p.Ser335=)
1g.7663563G>TCA338122585CAMTA1c.1016G>T (p.Ser339Ile)
c.*867G>T (n.*867G>T)
c.926G>T (p.Ser309Ile)
c.944G>T (p.Ser315Ile)
c.*785G>T (n.*785G>T)
c.1004G>T (p.Ser335Ile)
1g.7663564C>ACA338122587CAMTA1c.1017C>A (p.Ser339Arg)
c.*868C>A (n.*868C>A)
c.927C>A (p.Ser309Arg)
c.945C>A (p.Ser315Arg)
c.*786C>A (n.*786C>A)
c.1005C>A (p.Ser335Arg)
1g.7663564C>GCA338122590CAMTA1c.1017C>G (p.Ser339Arg)
c.*868C>G (n.*868C>G)
c.927C>G (p.Ser309Arg)
c.945C>G (p.Ser315Arg)
c.*786C>G (n.*786C>G)
c.1005C>G (p.Ser335Arg)
1g.7663564C>TCA416026437CAMTA1c.1017C>T (p.Ser339=)
c.*868C>T (n.*868C>T)
c.927C>T (p.Ser309=)
c.945C>T (p.Ser315=)
c.*786C>T (n.*786C>T)
c.1005C>T (p.Ser335=)
1g.7663565A>CCA338122595CAMTA1c.1018A>C (p.Ser340Arg)
c.*869A>C (n.*869A>C)
c.928A>C (p.Ser310Arg)
c.946A>C (p.Ser316Arg)
c.*787A>C (n.*787A>C)
c.1006A>C (p.Ser336Arg)
1g.7663565A>GCA338122594CAMTA1c.1018A>G (p.Ser340Gly)
c.*869A>G (n.*869A>G)
c.928A>G (p.Ser310Gly)
c.946A>G (p.Ser316Gly)
c.*787A>G (n.*787A>G)
c.1006A>G (p.Ser336Gly)
1g.7663565A>TCA338122592CAMTA1c.1018A>T (p.Ser340Cys)
c.*869A>T (n.*869A>T)
c.928A>T (p.Ser310Cys)
c.946A>T (p.Ser316Cys)
c.*787A>T (n.*787A>T)
c.1006A>T (p.Ser336Cys)
1g.7663566G>ACA338122600CAMTA1c.1019G>A (p.Ser340Asn)
c.*870G>A (n.*870G>A)
c.929G>A (p.Ser310Asn)
c.947G>A (p.Ser316Asn)
c.*788G>A (n.*788G>A)
c.1007G>A (p.Ser336Asn)
1g.7663566G>CCA338122605CAMTA1c.1019G>C (p.Ser340Thr)
c.*870G>C (n.*870G>C)
c.929G>C (p.Ser310Thr)
c.947G>C (p.Ser316Thr)
c.*788G>C (n.*788G>C)
c.1007G>C (p.Ser336Thr)
1g.7663566G>TCA338122607CAMTA1c.1019G>T (p.Ser340Ile)
c.*870G>T (n.*870G>T)
c.929G>T (p.Ser310Ile)
c.947G>T (p.Ser316Ile)
c.*788G>T (n.*788G>T)
c.1007G>T (p.Ser336Ile)
1g.7663567C>ACA338122610CAMTA1c.1020C>A (p.Ser340Arg)
c.*871C>A (n.*871C>A)
c.930C>A (p.Ser310Arg)
c.948C>A (p.Ser316Arg)
c.*789C>A (n.*789C>A)
c.1008C>A (p.Ser336Arg)
1g.7663567C>GCA338122613CAMTA1c.1020C>G (p.Ser340Arg)
c.*871C>G (n.*871C>G)
c.930C>G (p.Ser310Arg)
c.948C>G (p.Ser316Arg)
c.*789C>G (n.*789C>G)
c.1008C>G (p.Ser336Arg)
1g.7663567C>TCA416026438CAMTA1c.1020C>T (p.Ser340=)
c.*871C>T (n.*871C>T)
c.930C>T (p.Ser310=)
c.948C>T (p.Ser316=)
c.*789C>T (n.*789C>T)
c.1008C>T (p.Ser336=)
1g.7663568A>CCA338122615CAMTA1c.1021A>C (p.Thr341Pro)
c.*872A>C (n.*872A>C)
c.931A>C (p.Thr311Pro)
c.949A>C (p.Thr317Pro)
c.*790A>C (n.*790A>C)
c.1009A>C (p.Thr337Pro)
1g.7663568A>GCA338122621CAMTA1c.1021A>G (p.Thr341Ala)
c.*872A>G (n.*872A>G)
c.931A>G (p.Thr311Ala)
c.949A>G (p.Thr317Ala)
c.*790A>G (n.*790A>G)
c.1009A>G (p.Thr337Ala)
1g.7663568A>TCA338122622CAMTA1c.1021A>T (p.Thr341Ser)
c.*872A>T (n.*872A>T)
c.931A>T (p.Thr311Ser)
c.949A>T (p.Thr317Ser)
c.*790A>T (n.*790A>T)
c.1009A>T (p.Thr337Ser)
1g.7663569C>ACA338122624CAMTA1c.1022C>A (p.Thr341Asn)
c.*873C>A (n.*873C>A)
c.932C>A (p.Thr311Asn)
c.950C>A (p.Thr317Asn)
c.*791C>A (n.*791C>A)
c.1010C>A (p.Thr337Asn)
gnomAD v4
1g.7663569C>GCA338122627CAMTA1c.1022C>G (p.Thr341Ser)
c.*873C>G (n.*873C>G)
c.932C>G (p.Thr311Ser)
c.950C>G (p.Thr317Ser)
c.*791C>G (n.*791C>G)
c.1010C>G (p.Thr337Ser)
1g.7663569C>TCA338122626CAMTA1c.1022C>T (p.Thr341Ile)
c.*873C>T (n.*873C>T)
c.932C>T (p.Thr311Ile)
c.950C>T (p.Thr317Ile)
c.*791C>T (n.*791C>T)
c.1010C>T (p.Thr337Ile)
1g.7663570C>ACA416026440CAMTA1c.1023C>A (p.Thr341=)
c.*874C>A (n.*874C>A)
c.933C>A (p.Thr311=)
c.951C>A (p.Thr317=)
c.*792C>A (n.*792C>A)
c.1011C>A (p.Thr337=)
1g.7663570C=CA1152023667CAMTA1c.1023C= (p.Thr341=)
c.*874C= (n.*874C=)
c.933C= (p.Thr311=)
c.951C= (p.Thr317=)
c.*792C= (n.*792C=)
c.1011C= (p.Thr337=)
1g.7663570C>GCA416026439CAMTA1c.1023C>G (p.Thr341=)
c.*874C>G (n.*874C>G)
c.933C>G (p.Thr311=)
c.951C>G (p.Thr317=)
c.*792C>G (n.*792C>G)
c.1011C>G (p.Thr337=)
1g.7663570C>TCA566355CAMTA1c.1023C>T (p.Thr341=)
c.*874C>T (n.*874C>T)
c.933C>T (p.Thr311=)
c.951C>T (p.Thr317=)
c.*792C>T (n.*792C>T)
c.1011C>T (p.Thr337=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.7663571G>ACA338122631CAMTA1c.1024G>A (p.Glu342Lys)
c.*875G>A (n.*875G>A)
c.934G>A (p.Glu312Lys)
c.952G>A (p.Glu318Lys)
c.*793G>A (n.*793G>A)
c.1012G>A (p.Glu338Lys)
ClinVar dbSNP gnomAD v4
1g.7663571G>CCA338122634CAMTA1c.1024G>C (p.Glu342Gln)
c.*875G>C (n.*875G>C)
c.934G>C (p.Glu312Gln)
c.952G>C (p.Glu318Gln)
c.*793G>C (n.*793G>C)
c.1012G>C (p.Glu338Gln)
1g.7663571G=CA1152023668CAMTA1c.1024G= (p.Glu342=)
c.*875G= (n.*875G=)
c.934G= (p.Glu312=)
c.952G= (p.Glu318=)
c.*793G= (n.*793G=)
c.1012G= (p.Glu338=)
1g.7663571G>TCA338122637CAMTA1c.1024G>T (p.Glu342Ter)
c.*875G>T (n.*875G>T)
c.934G>T (p.Glu312Ter)
c.952G>T (p.Glu318Ter)
c.*793G>T (n.*793G>T)
c.1012G>T (p.Glu338Ter)
dbSNP gnomAD v3 gnomAD v4
1g.7663572A>CCA338122640CAMTA1c.1025A>C (p.Glu342Ala)
c.*876A>C (n.*876A>C)
c.935A>C (p.Glu312Ala)
c.953A>C (p.Glu318Ala)
c.*794A>C (n.*794A>C)
c.1013A>C (p.Glu338Ala)
1g.7663572A>GCA338122646CAMTA1c.1025A>G (p.Glu342Gly)
c.*876A>G (n.*876A>G)
c.935A>G (p.Glu312Gly)
c.953A>G (p.Glu318Gly)
c.*794A>G (n.*794A>G)
c.1013A>G (p.Glu338Gly)
1g.7663572A>TCA338122644CAMTA1c.1025A>T (p.Glu342Val)
c.*876A>T (n.*876A>T)
c.935A>T (p.Glu312Val)
c.953A>T (p.Glu318Val)
c.*794A>T (n.*794A>T)
c.1013A>T (p.Glu338Val)
1g.7663573G>ACA566356CAMTA1c.1026G>A (p.Glu342=)
c.*877G>A (n.*877G>A)
c.936G>A (p.Glu312=)
c.954G>A (p.Glu318=)
c.*795G>A (n.*795G>A)
c.1014G>A (p.Glu338=)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.7663573G>CCA338122658CAMTA1c.1026G>C (p.Glu342Asp)
c.*877G>C (n.*877G>C)
c.936G>C (p.Glu312Asp)
c.954G>C (p.Glu318Asp)
c.*795G>C (n.*795G>C)
c.1014G>C (p.Glu338Asp)
1g.7663573G=CA1152023669CAMTA1c.1026G= (p.Glu342=)
c.*877G= (n.*877G=)
c.936G= (p.Glu312=)
c.954G= (p.Glu318=)
c.*795G= (n.*795G=)
c.1014G= (p.Glu338=)
1g.7663573G>TCA338122663CAMTA1c.1026G>T (p.Glu342Asp)
c.*877G>T (n.*877G>T)
c.936G>T (p.Glu312Asp)
c.954G>T (p.Glu318Asp)
c.*795G>T (n.*795G>T)
c.1014G>T (p.Glu338Asp)
1g.7663574G>ACA338122665CAMTA1c.1027G>A (p.Val343Ile)
c.*878G>A (n.*878G>A)
c.937G>A (p.Val313Ile)
c.955G>A (p.Val319Ile)
c.*796G>A (n.*796G>A)
c.1015G>A (p.Val339Ile)
gnomAD v4
1g.7663574G>CCA338122668CAMTA1c.1027G>C (p.Val343Leu)
c.*878G>C (n.*878G>C)
c.937G>C (p.Val313Leu)
c.955G>C (p.Val319Leu)
c.*796G>C (n.*796G>C)
c.1015G>C (p.Val339Leu)
1g.7663574G>TCA338122671CAMTA1c.1027G>T (p.Val343Phe)
c.*878G>T (n.*878G>T)
c.937G>T (p.Val313Phe)
c.955G>T (p.Val319Phe)
c.*796G>T (n.*796G>T)
c.1015G>T (p.Val339Phe)
1g.7663575T>ACA338122675CAMTA1c.1028T>A (p.Val343Asp)
c.*879T>A (n.*879T>A)
c.938T>A (p.Val313Asp)
c.956T>A (p.Val319Asp)
c.*797T>A (n.*797T>A)
c.1016T>A (p.Val339Asp)
1g.7663575T>CCA338122677CAMTA1c.1028T>C (p.Val343Ala)
c.*879T>C (n.*879T>C)
c.938T>C (p.Val313Ala)
c.956T>C (p.Val319Ala)
c.*797T>C (n.*797T>C)
c.1016T>C (p.Val339Ala)
1g.7663575T>GCA338122678CAMTA1c.1028T>G (p.Val343Gly)
c.*879T>G (n.*879T>G)
c.938T>G (p.Val313Gly)
c.956T>G (p.Val319Gly)
c.*797T>G (n.*797T>G)
c.1016T>G (p.Val339Gly)
1g.7663576C>ACA416026441CAMTA1c.1029C>A (p.Val343=)
c.*880C>A (n.*880C>A)
c.939C>A (p.Val313=)
c.957C>A (p.Val319=)
c.*798C>A (n.*798C>A)
c.1017C>A (p.Val339=)
dbSNP gnomAD v3 gnomAD v4
1g.7663576C=CA1152023670CAMTA1c.1029C= (p.Val343=)
c.*880C= (n.*880C=)
c.939C= (p.Val313=)
c.957C= (p.Val319=)
c.*798C= (n.*798C=)
c.1017C= (p.Val339=)
1g.7663576C>GCA416026442CAMTA1c.1029C>G (p.Val343=)
c.*880C>G (n.*880C>G)
c.939C>G (p.Val313=)
c.957C>G (p.Val319=)
c.*798C>G (n.*798C>G)
c.1017C>G (p.Val339=)
1g.7663576C>TCA416026443CAMTA1c.1029C>T (p.Val343=)
c.*880C>T (n.*880C>T)
c.939C>T (p.Val313=)
c.957C>T (p.Val319=)
c.*798C>T (n.*798C>T)
c.1017C>T (p.Val339=)

Number of alleles fetched