Chr Mutation (hg38) CAid Gene Transcript Linkouts
7g.2543742_2543772delCA2740812327BRAT1c.623_653del (p.Ser208Ter)
c.475_505del (p.Pro159GlufsTer?)
n.639_669del
n.847_877del
n.483_513del
c.620_650del (p.Ser207Ter)
c.593_623del (p.Ser198Ter)
c.98_128del (p.Ser33Ter)
n.916_946del
n.682_712del
7g.2543757G>ACA453628067BRAT1c.636C>T (p.Pro212=)
c.488C>T (p.Pro163Leu)
n.652C>T
n.860C>T
n.496C>T
c.633C>T (p.Pro211=)
c.606C>T (p.Pro202=)
c.111C>T (p.Pro37=)
n.929C>T
n.695C>T
7g.2543757G>CCA453628068BRAT1c.636C>G (p.Pro212=)
c.488C>G (p.Pro163Arg)
n.652C>G
n.860C>G
n.496C>G
c.633C>G (p.Pro211=)
c.606C>G (p.Pro202=)
c.111C>G (p.Pro37=)
n.929C>G
n.695C>G
7g.2543757G>TCA453628069BRAT1c.636C>A (p.Pro212=)
c.488C>A (p.Pro163Gln)
n.652C>A
n.860C>A
n.496C>A
c.633C>A (p.Pro211=)
c.606C>A (p.Pro202=)
c.111C>A (p.Pro37=)
n.929C>A
n.695C>A
7g.2543761delCA2681507241BRAT1c.636del (p.Lys213ArgfsTer6)
c.488del (p.Pro163GlnfsTer?)
n.652del
n.860del
n.496del
c.633del (p.Lys212ArgfsTer6)
c.606del (p.Lys203ArgfsTer6)
c.111del (p.Lys38ArgfsTer6)
n.929del
n.695del
 gnomAD v4
7g.2543757_2543758insACA453628070BRAT1c.635_636insT (p.Lys213GlnfsTer?)
c.487_488insT (p.Pro163LeufsTer?)
n.651_652insT
n.859_860insT
n.495_496insT
c.632_633insT (p.Lys212GlnfsTer?)
c.605_606insT (p.Lys203GlnfsTer?)
c.110_111insT (p.Lys38GlnfsTer?)
n.928_929insT
n.694_695insT
7g.2543758G>ACA366632084BRAT1c.635C>T (p.Pro212Leu)
c.487C>T (p.Pro163Ser)
n.651C>T
n.859C>T
n.495C>T
c.632C>T (p.Pro211Leu)
c.605C>T (p.Pro202Leu)
c.110C>T (p.Pro37Leu)
n.928C>T
n.694C>T
 gnomAD v4
7g.2543758G>CCA366632085BRAT1c.635C>G (p.Pro212Arg)
c.487C>G (p.Pro163Ala)
n.651C>G
n.859C>G
n.495C>G
c.632C>G (p.Pro211Arg)
c.605C>G (p.Pro202Arg)
c.110C>G (p.Pro37Arg)
n.928C>G
n.694C>G
 dbSNP gnomAD v2 gnomAD v4
7g.2543758G=CA1683201762BRAT1c.635C= (p.Pro212=)
c.487C= (p.Pro163=)
n.651C=
n.859C=
n.495C=
c.632C= (p.Pro211=)
c.605C= (p.Pro202=)
c.110C= (p.Pro37=)
n.928C=
n.694C=
7g.2543758G>TCA366632086BRAT1c.635C>A (p.Pro212His)
c.487C>A (p.Pro163Thr)
n.651C>A
n.859C>A
n.495C>A
c.632C>A (p.Pro211His)
c.605C>A (p.Pro202His)
c.110C>A (p.Pro37His)
n.928C>A
n.694C>A
7g.2543759G>ACA366632087BRAT1c.634C>T (p.Pro212Ser)
c.486C>T (p.Pro162=)
n.650C>T
n.858C>T
n.494C>T
c.631C>T (p.Pro211Ser)
c.604C>T (p.Pro202Ser)
c.109C>T (p.Pro37Ser)
n.927C>T
n.693C>T
 gnomAD v4
7g.2543759G>CCA366632089BRAT1c.634C>G (p.Pro212Ala)
c.486C>G (p.Pro162=)
n.650C>G
n.858C>G
n.494C>G
c.631C>G (p.Pro211Ala)
c.604C>G (p.Pro202Ala)
c.109C>G (p.Pro37Ala)
n.927C>G
n.693C>G
7g.2543759G>TCA366632088BRAT1c.634C>A (p.Pro212Thr)
c.486C>A (p.Pro162=)
n.650C>A
n.858C>A
n.494C>A
c.631C>A (p.Pro211Thr)
c.604C>A (p.Pro202Thr)
c.109C>A (p.Pro37Thr)
n.927C>A
n.693C>A
7g.2543760G>ACA453628073BRAT1c.633C>T (p.Thr211=)
c.485C>T (p.Pro162Leu)
n.649C>T
n.857C>T
n.493C>T
c.630C>T (p.Thr210=)
c.603C>T (p.Thr201=)
c.108C>T (p.Thr36=)
n.926C>T
n.692C>T
7g.2543760G>CCA453628072BRAT1c.633C>G (p.Thr211=)
c.485C>G (p.Pro162Arg)
n.649C>G
n.857C>G
n.493C>G
c.630C>G (p.Thr210=)
c.603C>G (p.Thr201=)
c.108C>G (p.Thr36=)
n.926C>G
n.692C>G
 dbSNP
7g.2543760G=CA1683201763BRAT1c.633C= (p.Thr211=)
c.485C= (p.Pro162=)
n.649C=
n.857C=
n.493C=
c.630C= (p.Thr210=)
c.603C= (p.Thr201=)
c.108C= (p.Thr36=)
n.926C=
n.692C=
7g.2543760G>TCA453628075BRAT1c.633C>A (p.Thr211=)
c.485C>A (p.Pro162His)
n.649C>A
n.857C>A
n.493C>A
c.630C>A (p.Thr210=)
c.603C>A (p.Thr201=)
c.108C>A (p.Thr36=)
n.926C>A
n.692C>A
7g.2543761G>ACA366632090BRAT1c.632C>T (p.Thr211Ile)
c.484C>T (p.Pro162Ser)
n.648C>T
n.856C>T
n.492C>T
c.629C>T (p.Thr210Ile)
c.602C>T (p.Thr201Ile)
c.107C>T (p.Thr36Ile)
n.925C>T
n.691C>T
 dbSNP gnomAD v2 gnomAD v4
7g.2543761G>CCA366632091BRAT1c.632C>G (p.Thr211Ser)
c.484C>G (p.Pro162Ala)
n.648C>G
n.856C>G
n.492C>G
c.629C>G (p.Thr210Ser)
c.602C>G (p.Thr201Ser)
c.107C>G (p.Thr36Ser)
n.925C>G
n.691C>G
7g.2543761G=CA1683201764BRAT1c.632C= (p.Thr211=)
c.484C= (p.Pro162=)
n.648C=
n.856C=
n.492C=
c.629C= (p.Thr210=)
c.602C= (p.Thr201=)
c.107C= (p.Thr36=)
n.925C=
n.691C=
7g.2543761G>TCA366632092BRAT1c.632C>A (p.Thr211Asn)
c.484C>A (p.Pro162Thr)
n.648C>A
n.856C>A
n.492C>A
c.629C>A (p.Thr210Asn)
c.602C>A (p.Thr201Asn)
c.107C>A (p.Thr36Asn)
n.925C>A
n.691C>A
 gnomAD v4
7g.2543762T>ACA366632093BRAT1c.631A>T (p.Thr211Ser)
c.483A>T (p.Pro161=)
n.647A>T
n.855A>T
n.491A>T
c.628A>T (p.Thr210Ser)
c.601A>T (p.Thr201Ser)
c.106A>T (p.Thr36Ser)
n.924A>T
n.690A>T
 gnomAD v4
7g.2543762T>CCA366632094BRAT1c.631A>G (p.Thr211Ala)
c.483A>G (p.Pro161=)
n.647A>G
n.855A>G
n.491A>G
c.628A>G (p.Thr210Ala)
c.601A>G (p.Thr201Ala)
c.106A>G (p.Thr36Ala)
n.924A>G
n.690A>G
7g.2543762T>GCA366632095BRAT1c.631A>C (p.Thr211Pro)
c.483A>C (p.Pro161=)
n.647A>C
n.855A>C
n.491A>C
c.628A>C (p.Thr210Pro)
c.601A>C (p.Thr201Pro)
c.106A>C (p.Thr36Pro)
n.924A>C
n.690A>C
7g.2543763G>ACA453628077BRAT1c.630C>T (p.Ala210=)
c.482C>T (p.Pro161Leu)
n.646C>T
n.854C>T
n.490C>T
c.627C>T (p.Ala209=)
c.600C>T (p.Ala200=)
c.105C>T (p.Ala35=)
n.923C>T
n.689C>T
7g.2543763G>CCA453628078BRAT1c.630C>G (p.Ala210=)
c.482C>G (p.Pro161Arg)
n.646C>G
n.854C>G
n.490C>G
c.627C>G (p.Ala209=)
c.600C>G (p.Ala200=)
c.105C>G (p.Ala35=)
n.923C>G
n.689C>G
7g.2543763G=CA1683201765BRAT1c.630C= (p.Ala210=)
c.482C= (p.Pro161=)
n.646C=
n.854C=
n.490C=
c.627C= (p.Ala209=)
c.600C= (p.Ala200=)
c.105C= (p.Ala35=)
n.923C=
n.689C=
7g.2543763G>TCA152671694BRAT1c.630C>A (p.Ala210=)
c.482C>A (p.Pro161Gln)
n.646C>A
n.854C>A
n.490C>A
c.627C>A (p.Ala209=)
c.600C>A (p.Ala200=)
c.105C>A (p.Ala35=)
n.923C>A
n.689C>A
 dbSNP gnomAD v3 gnomAD v4
7g.2543764G>ACA366632096BRAT1c.629C>T (p.Ala210Val)
c.481C>T (p.Pro161Ser)
n.645C>T
n.853C>T
n.489C>T
c.626C>T (p.Ala209Val)
c.599C>T (p.Ala200Val)
c.104C>T (p.Ala35Val)
n.922C>T
n.688C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
7g.2543764G>CCA366632097BRAT1c.629C>G (p.Ala210Gly)
c.481C>G (p.Pro161Ala)
n.645C>G
n.853C>G
n.489C>G
c.626C>G (p.Ala209Gly)
c.599C>G (p.Ala200Gly)
c.104C>G (p.Ala35Gly)
n.922C>G
n.688C>G
7g.2543764G=CA1683201766BRAT1c.629C= (p.Ala210=)
c.481C= (p.Pro161=)
n.645C=
n.853C=
n.489C=
c.626C= (p.Ala209=)
c.599C= (p.Ala200=)
c.104C= (p.Ala35=)
n.922C=
n.688C=
7g.2543764G>TCA366632098BRAT1c.629C>A (p.Ala210Asp)
c.481C>A (p.Pro161Thr)
n.645C>A
n.853C>A
n.489C>A
c.626C>A (p.Ala209Asp)
c.599C>A (p.Ala200Asp)
c.104C>A (p.Ala35Asp)
n.922C>A
n.688C>A
 ClinVar
7g.2543765C>ACA366632100BRAT1c.628G>T (p.Ala210Ser)
c.480G>T (p.Arg160=)
n.644G>T
n.852G>T
n.488G>T
c.625G>T (p.Ala209Ser)
c.598G>T (p.Ala200Ser)
c.103G>T (p.Ala35Ser)
n.921G>T
n.687G>T
 gnomAD v4
7g.2543765C>GCA366632101BRAT1c.628G>C (p.Ala210Pro)
c.480G>C (p.Arg160=)
n.644G>C
n.852G>C
n.488G>C
c.625G>C (p.Ala209Pro)
c.598G>C (p.Ala200Pro)
c.103G>C (p.Ala35Pro)
n.921G>C
n.687G>C
7g.2543765C>TCA366632099BRAT1c.628G>A (p.Ala210Thr)
c.480G>A (p.Arg160=)
n.644G>A
n.852G>A
n.488G>A
c.625G>A (p.Ala209Thr)
c.598G>A (p.Ala200Thr)
c.103G>A (p.Ala35Thr)
n.921G>A
n.687G>A
 gnomAD v4
7g.2543766C>ACA453628079BRAT1c.627G>T (p.Ala209=)
c.479G>T (p.Arg160Leu)
n.643G>T
n.851G>T
n.487G>T
c.624G>T (p.Ala208=)
c.597G>T (p.Ala199=)
c.102G>T (p.Ala34=)
n.920G>T
n.686G>T
 ClinVar dbSNP gnomAD v4
7g.2543766C=CA1683201767BRAT1c.627G= (p.Ala209=)
c.479G= (p.Arg160=)
n.643G=
n.851G=
n.487G=
c.624G= (p.Ala208=)
c.597G= (p.Ala199=)
c.102G= (p.Ala34=)
n.920G=
n.686G=
7g.2543766C>GCA4128139BRAT1c.627G>C (p.Ala209=)
c.479G>C (p.Arg160Pro)
n.643G>C
n.851G>C
n.487G>C
c.624G>C (p.Ala208=)
c.597G>C (p.Ala199=)
c.102G>C (p.Ala34=)
n.920G>C
n.686G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.2543766C>TCA453628080BRAT1c.627G>A (p.Ala209=)
c.479G>A (p.Arg160Gln)
n.643G>A
n.851G>A
n.487G>A
c.624G>A (p.Ala208=)
c.597G>A (p.Ala199=)
c.102G>A (p.Ala34=)
n.920G>A
n.686G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.2543767G>ACA4128140BRAT1c.626C>T (p.Ala209Val)
c.478C>T (p.Arg160Trp)
n.642C>T
n.850C>T
n.486C>T
c.623C>T (p.Ala208Val)
c.596C>T (p.Ala199Val)
c.101C>T (p.Ala34Val)
n.919C>T
n.685C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.2543767G>CCA366632102BRAT1c.626C>G (p.Ala209Gly)
c.478C>G (p.Arg160Gly)
n.642C>G
n.850C>G
n.486C>G
c.623C>G (p.Ala208Gly)
c.596C>G (p.Ala199Gly)
c.101C>G (p.Ala34Gly)
n.919C>G
n.685C>G
 ClinVar
7g.2543767G=CA1683201768BRAT1c.626C= (p.Ala209=)
c.478C= (p.Arg160=)
n.642C=
n.850C=
n.486C=
c.623C= (p.Ala208=)
c.596C= (p.Ala199=)
c.101C= (p.Ala34=)
n.919C=
n.685C=
7g.2543767G>TCA366632103BRAT1c.626C>A (p.Ala209Glu)
c.478C>A (p.Arg160=)
n.642C>A
n.850C>A
n.486C>A
c.623C>A (p.Ala208Glu)
c.596C>A (p.Ala199Glu)
c.101C>A (p.Ala34Glu)
n.919C>A
n.685C>A
7g.2543768C>ACA366632104BRAT1c.625G>T (p.Ala209Ser)
c.477G>T (p.Pro159=)
n.641G>T
n.849G>T
n.485G>T
c.622G>T (p.Ala208Ser)
c.595G>T (p.Ala199Ser)
c.100G>T (p.Ala34Ser)
n.918G>T
n.684G>T
 gnomAD v4 COSMIC
7g.2543768C=CA1683201769BRAT1c.625G= (p.Ala209=)
c.477G= (p.Pro159=)
n.641G=
n.849G=
n.485G=
c.622G= (p.Ala208=)
c.595G= (p.Ala199=)
c.100G= (p.Ala34=)
n.918G=
n.684G=
7g.2543768C>GCA366632105BRAT1c.625G>C (p.Ala209Pro)
c.477G>C (p.Pro159=)
n.641G>C
n.849G>C
n.485G>C
c.622G>C (p.Ala208Pro)
c.595G>C (p.Ala199Pro)
c.100G>C (p.Ala34Pro)
n.918G>C
n.684G>C
7g.2543768C>TCA4128141BRAT1c.625G>A (p.Ala209Thr)
c.477G>A (p.Pro159=)
n.641G>A
n.849G>A
n.485G>A
c.622G>A (p.Ala208Thr)
c.595G>A (p.Ala199Thr)
c.100G>A (p.Ala34Thr)
n.918G>A
n.684G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.2543769G>ACA4128142BRAT1c.624C>T (p.Ser208=)
c.476C>T (p.Pro159Leu)
n.640C>T
n.848C>T
n.484C>T
c.621C>T (p.Ser207=)
c.594C>T (p.Ser198=)
c.99C>T (p.Ser33=)
n.917C>T
n.683C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.2543769G>CCA453628082BRAT1c.624C>G (p.Ser208=)
c.476C>G (p.Pro159Arg)
n.640C>G
n.848C>G
n.484C>G
c.621C>G (p.Ser207=)
c.594C>G (p.Ser198=)
c.99C>G (p.Ser33=)
n.917C>G
n.683C>G
7g.2543769G=CA1683201770BRAT1c.624C= (p.Ser208=)
c.476C= (p.Pro159=)
n.640C=
n.848C=
n.484C=
c.621C= (p.Ser207=)
c.594C= (p.Ser198=)
c.99C= (p.Ser33=)
n.917C=
n.683C=
7g.2543769G>TCA453628083BRAT1c.624C>A (p.Ser208=)
c.476C>A (p.Pro159Gln)
n.640C>A
n.848C>A
n.484C>A
c.621C>A (p.Ser207=)
c.594C>A (p.Ser198=)
c.99C>A (p.Ser33=)
n.917C>A
n.683C>A
 dbSNP gnomAD v4
7g.2543770G>ACA366632106BRAT1c.623C>T (p.Ser208Phe)
c.475C>T (p.Pro159Ser)
n.639C>T
n.847C>T
n.483C>T
c.620C>T (p.Ser207Phe)
c.593C>T (p.Ser198Phe)
c.98C>T (p.Ser33Phe)
n.916C>T
n.682C>T
 gnomAD v4 COSMIC
7g.2543770G>CCA366632107BRAT1c.623C>G (p.Ser208Cys)
c.475C>G (p.Pro159Ala)
n.639C>G
n.847C>G
n.483C>G
c.620C>G (p.Ser207Cys)
c.593C>G (p.Ser198Cys)
c.98C>G (p.Ser33Cys)
n.916C>G
n.682C>G
7g.2543770G>TCA366632108BRAT1c.623C>A (p.Ser208Tyr)
c.475C>A (p.Pro159Thr)
n.639C>A
n.847C>A
n.483C>A
c.620C>A (p.Ser207Tyr)
c.593C>A (p.Ser198Tyr)
c.98C>A (p.Ser33Tyr)
n.916C>A
n.682C>A
7g.2543771A>CCA366632110BRAT1c.622T>G (p.Ser208Ala)
c.474T>G (p.Ala158=)
n.638T>G
n.846T>G
n.482T>G
c.619T>G (p.Ser207Ala)
c.592T>G (p.Ser198Ala)
c.97T>G (p.Ser33Ala)
n.915T>G
n.681T>G
7g.2543771A>GCA366632111BRAT1c.622T>C (p.Ser208Pro)
c.474T>C (p.Ala158=)
n.638T>C
n.846T>C
n.482T>C
c.619T>C (p.Ser207Pro)
c.592T>C (p.Ser198Pro)
c.97T>C (p.Ser33Pro)
n.915T>C
n.681T>C
7g.2543771A>TCA366632109BRAT1c.622T>A (p.Ser208Thr)
c.474T>A (p.Ala158=)
n.638T>A
n.846T>A
n.482T>A
c.619T>A (p.Ser207Thr)
c.592T>A (p.Ser198Thr)
c.97T>A (p.Ser33Thr)
n.915T>A
n.681T>A
7g.2543772G>ACA453628085BRAT1c.621C>T (p.Cys207=)
c.473C>T (p.Ala158Val)
n.637C>T
n.845C>T
n.481C>T
c.618C>T (p.Cys206=)
c.591C>T (p.Cys197=)
c.96C>T (p.Cys32=)
n.914C>T
n.680C>T
 gnomAD v4
7g.2543772G>CCA366632112BRAT1c.621C>G (p.Cys207Trp)
c.473C>G (p.Ala158Gly)
n.637C>G
n.845C>G
n.481C>G
c.618C>G (p.Cys206Trp)
c.591C>G (p.Cys197Trp)
c.96C>G (p.Cys32Trp)
n.914C>G
n.680C>G
7g.2543772G>TCA366632113BRAT1c.621C>A (p.Cys207Ter)
c.473C>A (p.Ala158Asp)
n.637C>A
n.845C>A
n.481C>A
c.618C>A (p.Cys206Ter)
c.591C>A (p.Cys197Ter)
c.96C>A (p.Cys32Ter)
n.914C>A
n.680C>A
7g.2543773C>ACA366632114BRAT1c.620G>T (p.Cys207Phe)
c.472G>T (p.Ala158Ser)
n.636G>T
n.844G>T
n.480G>T
c.617G>T (p.Cys206Phe)
c.590G>T (p.Cys197Phe)
c.95G>T (p.Cys32Phe)
n.913G>T
n.679G>T
7g.2543773C>GCA366632115BRAT1c.620G>C (p.Cys207Ser)
c.472G>C (p.Ala158Pro)
n.636G>C
n.844G>C
n.480G>C
c.617G>C (p.Cys206Ser)
c.590G>C (p.Cys197Ser)
c.95G>C (p.Cys32Ser)
n.913G>C
n.679G>C
7g.2543773C>TCA366632116BRAT1c.620G>A (p.Cys207Tyr)
c.472G>A (p.Ala158Thr)
n.636G>A
n.844G>A
n.480G>A
c.617G>A (p.Cys206Tyr)
c.590G>A (p.Cys197Tyr)
c.95G>A (p.Cys32Tyr)
n.913G>A
n.679G>A
 gnomAD v4
7g.2543774A>CCA366632119BRAT1c.619T>G (p.Cys207Gly)
c.471T>G (p.Cys157Trp)
n.635T>G
n.843T>G
n.479T>G
c.616T>G (p.Cys206Gly)
c.589T>G (p.Cys197Gly)
c.94T>G (p.Cys32Gly)
n.912T>G
n.678T>G
7g.2543774A>GCA366632117BRAT1c.619T>C (p.Cys207Arg)
c.471T>C (p.Cys157=)
n.635T>C
n.843T>C
n.479T>C
c.616T>C (p.Cys206Arg)
c.589T>C (p.Cys197Arg)
c.94T>C (p.Cys32Arg)
n.912T>C
n.678T>C
7g.2543774A>TCA366632118BRAT1c.619T>A (p.Cys207Ser)
c.471T>A (p.Cys157Ter)
n.635T>A
n.843T>A
n.479T>A
c.616T>A (p.Cys206Ser)
c.589T>A (p.Cys197Ser)
c.94T>A (p.Cys32Ser)
n.912T>A
n.678T>A
7g.2543775C>ACA366632120BRAT1c.618G>T (p.Leu206Phe)
c.470G>T (p.Cys157Phe)
n.634G>T
n.842G>T
n.478G>T
c.615G>T (p.Leu205Phe)
c.588G>T (p.Leu196Phe)
c.93G>T (p.Leu31Phe)
n.911G>T
n.677G>T
7g.2543775C>GCA366632121BRAT1c.618G>C (p.Leu206Phe)
c.470G>C (p.Cys157Ser)
n.634G>C
n.842G>C
n.478G>C
c.615G>C (p.Leu205Phe)
c.588G>C (p.Leu196Phe)
c.93G>C (p.Leu31Phe)
n.911G>C
n.677G>C
7g.2543775C>TCA453628086BRAT1c.618G>A (p.Leu206=)
c.470G>A (p.Cys157Tyr)
n.634G>A
n.842G>A
n.478G>A
c.615G>A (p.Leu205=)
c.588G>A (p.Leu196=)
c.93G>A (p.Leu31=)
n.911G>A
n.677G>A
 gnomAD v4
7g.2543776A=CA1683201771BRAT1c.617T= (p.Leu206=)
c.469T= (p.Cys157=)
n.633T=
n.841T=
n.477T=
c.614T= (p.Leu205=)
c.587T= (p.Leu196=)
c.92T= (p.Leu31=)
n.910T=
n.676T=
7g.2543776A>CCA366632122BRAT1c.617T>G (p.Leu206Trp)
c.469T>G (p.Cys157Gly)
n.633T>G
n.841T>G
n.477T>G
c.614T>G (p.Leu205Trp)
c.587T>G (p.Leu196Trp)
c.92T>G (p.Leu31Trp)
n.910T>G
n.676T>G
 gnomAD v4
7g.2543776A>GCA366632123BRAT1c.617T>C (p.Leu206Ser)
c.469T>C (p.Cys157Arg)
n.633T>C
n.841T>C
n.477T>C
c.614T>C (p.Leu205Ser)
c.587T>C (p.Leu196Ser)
c.92T>C (p.Leu31Ser)
n.910T>C
n.676T>C
7g.2543776A>TCA4128143BRAT1c.617T>A (p.Leu206Ter)
c.469T>A (p.Cys157Ser)
n.633T>A
n.841T>A
n.477T>A
c.614T>A (p.Leu205Ter)
c.587T>A (p.Leu196Ter)
c.92T>A (p.Leu31Ter)
n.910T>A
n.676T>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.2543777A=CA1683201772BRAT1c.616T= (p.Leu206=)
c.468T= (p.Pro156=)
n.632T=
n.840T=
n.476T=
c.613T= (p.Leu205=)
c.586T= (p.Leu196=)
c.91T= (p.Leu31=)
n.909T=
n.675T=
7g.2543777A>CCA366632125BRAT1c.616T>G (p.Leu206Val)
c.468T>G (p.Pro156=)
n.632T>G
n.840T>G
n.476T>G
c.613T>G (p.Leu205Val)
c.586T>G (p.Leu196Val)
c.91T>G (p.Leu31Val)
n.909T>G
n.675T>G
7g.2543777A>GCA4128144BRAT1c.616T>C (p.Leu206=)
c.468T>C (p.Pro156=)
n.632T>C
n.840T>C
n.476T>C
c.613T>C (p.Leu205=)
c.586T>C (p.Leu196=)
c.91T>C (p.Leu31=)
n.909T>C
n.675T>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.2543777A>TCA366632124BRAT1c.616T>A (p.Leu206Met)
c.468T>A (p.Pro156=)
n.632T>A
n.840T>A
n.476T>A
c.613T>A (p.Leu205Met)
c.586T>A (p.Leu196Met)
c.91T>A (p.Leu31Met)
n.909T>A
n.675T>A
7g.2543778G>ACA453628089BRAT1c.615C>T (p.Ser205=)
c.467C>T (p.Pro156Leu)
n.631C>T
n.839C>T
n.475C>T
c.612C>T (p.Ser204=)
c.585C>T (p.Ser195=)
c.90C>T (p.Ser30=)
n.908C>T
n.674C>T
 dbSNP gnomAD v2 gnomAD v4
7g.2543778G>CCA453628090BRAT1c.615C>G (p.Ser205=)
c.467C>G (p.Pro156Arg)
n.631C>G
n.839C>G
n.475C>G
c.612C>G (p.Ser204=)
c.585C>G (p.Ser195=)
c.90C>G (p.Ser30=)
n.908C>G
n.674C>G
7g.2543778G=CA1683201773BRAT1c.615C= (p.Ser205=)
c.467C= (p.Pro156=)
n.631C=
n.839C=
n.475C=
c.612C= (p.Ser204=)
c.585C= (p.Ser195=)
c.90C= (p.Ser30=)
n.908C=
n.674C=
7g.2543778G>TCA453628091BRAT1c.615C>A (p.Ser205=)
c.467C>A (p.Pro156His)
n.631C>A
n.839C>A
n.475C>A
c.612C>A (p.Ser204=)
c.585C>A (p.Ser195=)
c.90C>A (p.Ser30=)
n.908C>A
n.674C>A
7g.2543779G>ACA366632126BRAT1c.614C>T (p.Ser205Phe)
c.466C>T (p.Pro156Ser)
n.630C>T
n.838C>T
n.474C>T
c.611C>T (p.Ser204Phe)
c.584C>T (p.Ser195Phe)
c.89C>T (p.Ser30Phe)
n.907C>T
n.673C>T
7g.2543779G>CCA366632128BRAT1c.614C>G (p.Ser205Cys)
c.466C>G (p.Pro156Ala)
n.630C>G
n.838C>G
n.474C>G
c.611C>G (p.Ser204Cys)
c.584C>G (p.Ser195Cys)
c.89C>G (p.Ser30Cys)
n.907C>G
n.673C>G
 dbSNP gnomAD v3 gnomAD v4
7g.2543779G=CA1683201774BRAT1c.614C= (p.Ser205=)
c.466C= (p.Pro156=)
n.630C=
n.838C=
n.474C=
c.611C= (p.Ser204=)
c.584C= (p.Ser195=)
c.89C= (p.Ser30=)
n.907C=
n.673C=
7g.2543779G>TCA366632127BRAT1c.614C>A (p.Ser205Tyr)
c.466C>A (p.Pro156Thr)
n.630C>A
n.838C>A
n.474C>A
c.611C>A (p.Ser204Tyr)
c.584C>A (p.Ser195Tyr)
c.89C>A (p.Ser30Tyr)
n.907C>A
n.673C>A
7g.2543780A=CA1683201775BRAT1c.613T= (p.Ser205=)
c.465T= (p.Ser155=)
n.629T=
n.837T=
n.473T=
c.610T= (p.Ser204=)
c.583T= (p.Ser195=)
c.88T= (p.Ser30=)
n.906T=
n.672T=
7g.2543780A>CCA366632129BRAT1c.613T>G (p.Ser205Ala)
c.465T>G (p.Ser155Arg)
n.629T>G
n.837T>G
n.473T>G
c.610T>G (p.Ser204Ala)
c.583T>G (p.Ser195Ala)
c.88T>G (p.Ser30Ala)
n.906T>G
n.672T>G
 dbSNP
7g.2543780A>GCA366632130BRAT1c.613T>C (p.Ser205Pro)
c.465T>C (p.Ser155=)
n.629T>C
n.837T>C
n.473T>C
c.610T>C (p.Ser204Pro)
c.583T>C (p.Ser195Pro)
c.88T>C (p.Ser30Pro)
n.906T>C
n.672T>C
7g.2543780A>TCA366632131BRAT1c.613T>A (p.Ser205Thr)
c.465T>A (p.Ser155Arg)
n.629T>A
n.837T>A
n.473T>A
c.610T>A (p.Ser204Thr)
c.583T>A (p.Ser195Thr)
c.88T>A (p.Ser30Thr)
n.906T>A
n.672T>A
7g.2543781C>ACA366632132BRAT1c.612G>T (p.Glu204Asp)
c.464G>T (p.Ser155Ile)
n.628G>T
n.836G>T
n.472G>T
c.609G>T (p.Glu203Asp)
c.582G>T (p.Glu194Asp)
c.87G>T (p.Glu29Asp)
n.905G>T
n.671G>T
7g.2543781C=CA1683201776BRAT1c.612G= (p.Glu204=)
c.464G= (p.Ser155=)
n.628G=
n.836G=
n.472G=
c.609G= (p.Glu203=)
c.582G= (p.Glu194=)
c.87G= (p.Glu29=)
n.905G=
n.671G=
7g.2543781C>GCA366632133BRAT1c.612G>C (p.Glu204Asp)
c.464G>C (p.Ser155Thr)
n.628G>C
n.836G>C
n.472G>C
c.609G>C (p.Glu203Asp)
c.582G>C (p.Glu194Asp)
c.87G>C (p.Glu29Asp)
n.905G>C
n.671G>C
7g.2543781C>TCA4128145BRAT1c.612G>A (p.Glu204=)
c.464G>A (p.Ser155Asn)
n.628G>A
n.836G>A
n.472G>A
c.609G>A (p.Glu203=)
c.582G>A (p.Glu194=)
c.87G>A (p.Glu29=)
n.905G>A
n.671G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.2543782T>ACA366632134BRAT1c.611A>T (p.Glu204Val)
c.463A>T (p.Ser155Cys)
n.627A>T
n.835A>T
n.471A>T
c.608A>T (p.Glu203Val)
c.581A>T (p.Glu194Val)
c.86A>T (p.Glu29Val)
n.904A>T
n.670A>T
7g.2543782T>CCA366632135BRAT1c.611A>G (p.Glu204Gly)
c.463A>G (p.Ser155Gly)
n.627A>G
n.835A>G
n.471A>G
c.608A>G (p.Glu203Gly)
c.581A>G (p.Glu194Gly)
c.86A>G (p.Glu29Gly)
n.904A>G
n.670A>G
 dbSNP gnomAD v3 gnomAD v4
7g.2543782T>GCA366632136BRAT1c.611A>C (p.Glu204Ala)
c.463A>C (p.Ser155Arg)
n.627A>C
n.835A>C
n.471A>C
c.608A>C (p.Glu203Ala)
c.581A>C (p.Glu194Ala)
c.86A>C (p.Glu29Ala)
n.904A>C
n.670A>C
7g.2543782T=CA1683201777BRAT1c.611A= (p.Glu204=)
c.463A= (p.Ser155=)
n.627A=
n.835A=
n.471A=
c.608A= (p.Glu203=)
c.581A= (p.Glu194=)
c.86A= (p.Glu29=)
n.904A=
n.670A=
7g.2543783C>ACA366632137BRAT1c.610G>T (p.Glu204Ter)
c.462G>T (p.Lys154Asn)
n.626G>T
n.834G>T
n.470G>T
c.607G>T (p.Glu203Ter)
c.580G>T (p.Glu194Ter)
c.85G>T (p.Glu29Ter)
n.903G>T
n.669G>T
7g.2543783C=CA1683201778BRAT1c.610G= (p.Glu204=)
c.462G= (p.Lys154=)
n.626G=
n.834G=
n.470G=
c.607G= (p.Glu203=)
c.580G= (p.Glu194=)
c.85G= (p.Glu29=)
n.903G=
n.669G=
7g.2543783C>GCA152671751BRAT1c.610G>C (p.Glu204Gln)
c.462G>C (p.Lys154Asn)
n.626G>C
n.834G>C
n.470G>C
c.607G>C (p.Glu203Gln)
c.580G>C (p.Glu194Gln)
c.85G>C (p.Glu29Gln)
n.903G>C
n.669G>C
 dbSNP gnomAD v4
7g.2543783C>TCA366632138BRAT1c.610G>A (p.Glu204Lys)
c.462G>A (p.Lys154=)
n.626G>A
n.834G>A
n.470G>A
c.607G>A (p.Glu203Lys)
c.580G>A (p.Glu194Lys)
c.85G>A (p.Glu29Lys)
n.903G>A
n.669G>A
7g.2543784T>ACA366632140BRAT1c.609A>T (p.Glu203Asp)
c.461A>T (p.Lys154Met)
n.625A>T
n.833A>T
n.469A>T
c.606A>T (p.Glu202Asp)
c.579A>T (p.Glu193Asp)
c.84A>T (p.Glu28Asp)
n.902A>T
n.668A>T
7g.2543784T>CCA453628094BRAT1c.609A>G (p.Glu203=)
c.461A>G (p.Lys154Arg)
n.625A>G
n.833A>G
n.469A>G
c.606A>G (p.Glu202=)
c.579A>G (p.Glu193=)
c.84A>G (p.Glu28=)
n.902A>G
n.668A>G
 dbSNP gnomAD v3 gnomAD v4
7g.2543784T>GCA366632139BRAT1c.609A>C (p.Glu203Asp)
c.461A>C (p.Lys154Thr)
n.625A>C
n.833A>C
n.469A>C
c.606A>C (p.Glu202Asp)
c.579A>C (p.Glu193Asp)
c.84A>C (p.Glu28Asp)
n.902A>C
n.668A>C
7g.2543784T=CA1683201779BRAT1c.609A= (p.Glu203=)
c.461A= (p.Lys154=)
n.625A=
n.833A=
n.469A=
c.606A= (p.Glu202=)
c.579A= (p.Glu193=)
c.84A= (p.Glu28=)
n.902A=
n.668A=
7g.2543785T>ACA366632141BRAT1c.608A>T (p.Glu203Val)
c.460A>T (p.Lys154Ter)
n.624A>T
n.832A>T
n.468A>T
c.605A>T (p.Glu202Val)
c.578A>T (p.Glu193Val)
c.83A>T (p.Glu28Val)
n.901A>T
n.667A>T
7g.2543785T>CCA366632142BRAT1c.608A>G (p.Glu203Gly)
c.460A>G (p.Lys154Glu)
n.624A>G
n.832A>G
n.468A>G
c.605A>G (p.Glu202Gly)
c.578A>G (p.Glu193Gly)
c.83A>G (p.Glu28Gly)
n.901A>G
n.667A>G
7g.2543785T>GCA366632143BRAT1c.608A>C (p.Glu203Ala)
c.460A>C (p.Lys154Gln)
n.624A>C
n.832A>C
n.468A>C
c.605A>C (p.Glu202Ala)
c.578A>C (p.Glu193Ala)
c.83A>C (p.Glu28Ala)
n.901A>C
n.667A>C
7g.2543786C>ACA366632144BRAT1c.607G>T (p.Glu203Ter)
c.459G>T (p.Leu153Phe)
n.623G>T
n.831G>T
n.467G>T
c.604G>T (p.Glu202Ter)
c.577G>T (p.Glu193Ter)
c.82G>T (p.Glu28Ter)
n.900G>T
n.666G>T
7g.2543786C>GCA366632145BRAT1c.607G>C (p.Glu203Gln)
c.459G>C (p.Leu153Phe)
n.623G>C
n.831G>C
n.467G>C
c.604G>C (p.Glu202Gln)
c.577G>C (p.Glu193Gln)
c.82G>C (p.Glu28Gln)
n.900G>C
n.666G>C
7g.2543786C>TCA366632146BRAT1c.607G>A (p.Glu203Lys)
c.459G>A (p.Leu153=)
n.623G>A
n.831G>A
n.467G>A
c.604G>A (p.Glu202Lys)
c.577G>A (p.Glu193Lys)
c.82G>A (p.Glu28Lys)
n.900G>A
n.666G>A
 gnomAD v4
7g.2543787A>CCA453628096BRAT1c.606T>G (p.Val202=)
c.458T>G (p.Leu153Trp)
n.622T>G
n.830T>G
n.466T>G
c.603T>G (p.Val201=)
c.576T>G (p.Val192=)
c.81T>G (p.Val27=)
n.899T>G
n.665T>G
7g.2543787A>GCA453628097BRAT1c.606T>C (p.Val202=)
c.458T>C (p.Leu153Ser)
n.622T>C
n.830T>C
n.466T>C
c.603T>C (p.Val201=)
c.576T>C (p.Val192=)
c.81T>C (p.Val27=)
n.899T>C
n.665T>C
7g.2543787A>TCA453628098BRAT1c.606T>A (p.Val202=)
c.458T>A (p.Leu153Ter)
n.622T>A
n.830T>A
n.466T>A
c.603T>A (p.Val201=)
c.576T>A (p.Val192=)
c.81T>A (p.Val27=)
n.899T>A
n.665T>A
7g.2543788A=CA1683201780BRAT1c.605T= (p.Val202=)
c.457T= (p.Leu153=)
n.621T=
n.829T=
n.465T=
c.602T= (p.Val201=)
c.575T= (p.Val192=)
c.80T= (p.Val27=)
n.898T=
n.664T=
7g.2543788A>CCA4128146BRAT1c.605T>G (p.Val202Gly)
c.457T>G (p.Leu153Val)
n.621T>G
n.829T>G
n.465T>G
c.602T>G (p.Val201Gly)
c.575T>G (p.Val192Gly)
c.80T>G (p.Val27Gly)
n.898T>G
n.664T>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.2543788A>GCA366632147BRAT1c.605T>C (p.Val202Ala)
c.457T>C (p.Leu153=)
n.621T>C
n.829T>C
n.465T>C
c.602T>C (p.Val201Ala)
c.575T>C (p.Val192Ala)
c.80T>C (p.Val27Ala)
n.898T>C
n.664T>C
7g.2543788A>TCA366632148BRAT1c.605T>A (p.Val202Asp)
c.457T>A (p.Leu153Met)
n.621T>A
n.829T>A
n.465T>A
c.602T>A (p.Val201Asp)
c.575T>A (p.Val192Asp)
c.80T>A (p.Val27Asp)
n.898T>A
n.664T>A
7g.2543789C>ACA366632149BRAT1c.604G>T (p.Val202Phe)
c.456G>T (p.Thr152=)
n.620G>T
n.828G>T
n.464G>T
c.601G>T (p.Val201Phe)
c.574G>T (p.Val192Phe)
c.79G>T (p.Val27Phe)
n.897G>T
n.663G>T
 ClinVar
7g.2543789C=CA1683201781BRAT1c.604G= (p.Val202=)
c.456G= (p.Thr152=)
n.620G=
n.828G=
n.464G=
c.601G= (p.Val201=)
c.574G= (p.Val192=)
c.79G= (p.Val27=)
n.897G=
n.663G=
7g.2543789C>GCA366632150BRAT1c.604G>C (p.Val202Leu)
c.456G>C (p.Thr152=)
n.620G>C
n.828G>C
n.464G>C
c.601G>C (p.Val201Leu)
c.574G>C (p.Val192Leu)
c.79G>C (p.Val27Leu)
n.897G>C
n.663G>C
7g.2543789C>TCA4128147BRAT1c.604G>A (p.Val202Ile)
c.456G>A (p.Thr152=)
n.620G>A
n.828G>A
n.464G>A
c.601G>A (p.Val201Ile)
c.574G>A (p.Val192Ile)
c.79G>A (p.Val27Ile)
n.897G>A
n.663G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.2543790G>ACA4128148BRAT1c.603C>T (p.His201=)
c.455C>T (p.Thr152Met)
n.619C>T
n.827C>T
n.463C>T
c.600C>T (p.His200=)
c.573C>T (p.His191=)
c.78C>T (p.His26=)
n.896C>T
n.662C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.2543790G>CCA366632152BRAT1c.603C>G (p.His201Gln)
c.455C>G (p.Thr152Arg)
n.619C>G
n.827C>G
n.463C>G
c.600C>G (p.His200Gln)
c.573C>G (p.His191Gln)
c.78C>G (p.His26Gln)
n.896C>G
n.662C>G
7g.2543790G=CA1683201782BRAT1c.603C= (p.His201=)
c.455C= (p.Thr152=)
n.619C=
n.827C=
n.463C=
c.600C= (p.His200=)
c.573C= (p.His191=)
c.78C= (p.His26=)
n.896C=
n.662C=
7g.2543790G>TCA366632151BRAT1c.603C>A (p.His201Gln)
c.455C>A (p.Thr152Lys)
n.619C>A
n.827C>A
n.463C>A
c.600C>A (p.His200Gln)
c.573C>A (p.His191Gln)
c.78C>A (p.His26Gln)
n.896C>A
n.662C>A
7g.2543791T>ACA366632153BRAT1c.602A>T (p.His201Leu)
c.454A>T (p.Thr152Ser)
n.618A>T
n.826A>T
n.462A>T
c.599A>T (p.His200Leu)
c.572A>T (p.His191Leu)
c.77A>T (p.His26Leu)
n.895A>T
n.661A>T
7g.2543791T>CCA366632154BRAT1c.602A>G (p.His201Arg)
c.454A>G (p.Thr152Ala)
n.618A>G
n.826A>G
n.462A>G
c.599A>G (p.His200Arg)
c.572A>G (p.His191Arg)
c.77A>G (p.His26Arg)
n.895A>G
n.661A>G
 dbSNP
7g.2543791T>GCA366632155BRAT1c.602A>C (p.His201Pro)
c.454A>C (p.Thr152Pro)
n.618A>C
n.826A>C
n.462A>C
c.599A>C (p.His200Pro)
c.572A>C (p.His191Pro)
c.77A>C (p.His26Pro)
n.895A>C
n.661A>C
7g.2543791T=CA1683201783BRAT1c.602A= (p.His201=)
c.454A= (p.Thr152=)
n.618A=
n.826A=
n.462A=
c.599A= (p.His200=)
c.572A= (p.His191=)
c.77A= (p.His26=)
n.895A=
n.661A=
7g.2543792G>ACA366632156BRAT1c.601C>T (p.His201Tyr)
c.453C>T (p.Ile151=)
n.617C>T
n.825C>T
n.461C>T
c.598C>T (p.His200Tyr)
c.571C>T (p.His191Tyr)
c.76C>T (p.His26Tyr)
n.894C>T
n.660C>T
 COSMIC
7g.2543792G>CCA366632157BRAT1c.601C>G (p.His201Asp)
c.453C>G (p.Ile151Met)
n.617C>G
n.825C>G
n.461C>G
c.598C>G (p.His200Asp)
c.571C>G (p.His191Asp)
c.76C>G (p.His26Asp)
n.894C>G
n.660C>G
7g.2543792G>TCA366632158BRAT1c.601C>A (p.His201Asn)
c.453C>A (p.Ile151=)
n.617C>A
n.825C>A
n.461C>A
c.598C>A (p.His200Asn)
c.571C>A (p.His191Asn)
c.76C>A (p.His26Asn)
n.894C>A
n.660C>A
7g.2543793A>CCA366632160BRAT1c.600T>G (p.Asp200Glu)
c.452T>G (p.Ile151Ser)
n.616T>G
n.824T>G
n.460T>G
c.597T>G (p.Asp199Glu)
c.570T>G (p.Asp190Glu)
c.75T>G (p.Asp25Glu)
n.893T>G
n.659T>G
7g.2543793A>GCA453628103BRAT1c.600T>C (p.Asp200=)
c.452T>C (p.Ile151Thr)
n.616T>C
n.824T>C
n.460T>C
c.597T>C (p.Asp199=)
c.570T>C (p.Asp190=)
c.75T>C (p.Asp25=)
n.893T>C
n.659T>C
7g.2543793A>TCA366632159BRAT1c.600T>A (p.Asp200Glu)
c.452T>A (p.Ile151Asn)
n.616T>A
n.824T>A
n.460T>A
c.597T>A (p.Asp199Glu)
c.570T>A (p.Asp190Glu)
c.75T>A (p.Asp25Glu)
n.893T>A
n.659T>A
7g.2543794T>ACA366632161BRAT1c.599A>T (p.Asp200Val)
c.451A>T (p.Ile151Phe)
n.615A>T
n.823A>T
n.459A>T
c.596A>T (p.Asp199Val)
c.569A>T (p.Asp190Val)
c.74A>T (p.Asp25Val)
n.892A>T
n.658A>T
7g.2543794T>CCA366632162BRAT1c.599A>G (p.Asp200Gly)
c.451A>G (p.Ile151Val)
n.615A>G
n.823A>G
n.459A>G
c.596A>G (p.Asp199Gly)
c.569A>G (p.Asp190Gly)
c.74A>G (p.Asp25Gly)
n.892A>G
n.658A>G
7g.2543794T>GCA366632163BRAT1c.599A>C (p.Asp200Ala)
c.451A>C (p.Ile151Leu)
n.615A>C
n.823A>C
n.459A>C
c.596A>C (p.Asp199Ala)
c.569A>C (p.Asp190Ala)
c.74A>C (p.Asp25Ala)
n.892A>C
n.658A>C
7g.2543795C>ACA152671779BRAT1c.598G>T (p.Asp200Tyr)
c.450G>T (p.Trp150Cys)
n.614G>T
n.822G>T
n.458G>T
c.595G>T (p.Asp199Tyr)
c.568G>T (p.Asp190Tyr)
c.73G>T (p.Asp25Tyr)
n.891G>T
n.657G>T
 dbSNP gnomAD v4
7g.2543795C=CA1683201784BRAT1c.598G= (p.Asp200=)
c.450G= (p.Trp150=)
n.614G=
n.822G=
n.458G=
c.595G= (p.Asp199=)
c.568G= (p.Asp190=)
c.73G= (p.Asp25=)
n.891G=
n.657G=
7g.2543795C>GCA366632164BRAT1c.598G>C (p.Asp200His)
c.450G>C (p.Trp150Cys)
n.614G>C
n.822G>C
n.458G>C
c.595G>C (p.Asp199His)
c.568G>C (p.Asp190His)
c.73G>C (p.Asp25His)
n.891G>C
n.657G>C
7g.2543795C>TCA366632165BRAT1c.598G>A (p.Asp200Asn)
c.450G>A (p.Trp150Ter)
n.614G>A
n.822G>A
n.458G>A
c.595G>A (p.Asp199Asn)
c.568G>A (p.Asp190Asn)
c.73G>A (p.Asp25Asn)
n.891G>A
n.657G>A
 dbSNP
7g.2543795_2543796delinsAACA915944817BRAT1c.597_598delinsTT (p.Met199_Asp200delinsIleTyr)
c.449_450delinsTT (p.Trp150Phe)
n.613_614delinsTT
n.821_822delinsTT
n.457_458delinsTT
c.594_595delinsTT (p.Met198_Asp199delinsIleTyr)
c.567_568delinsTT (p.Met189_Asp190delinsIleTyr)
c.72_73delinsTT (p.Met24_Asp25delinsIleTyr)
n.890_891delinsTT
n.656_657delinsTT
 ClinVar dbSNP
7g.2543795_2543796delinsCCCA1683201785BRAT1c.597_598delinsGG (p.Met199=)
c.449_450delinsGG (p.Trp150=)
n.613_614delinsGG
n.821_822delinsGG
n.457_458delinsGG
c.594_595delinsGG (p.Met198=)
c.567_568delinsGG (p.Met189=)
c.72_73delinsGG (p.Met24=)
n.890_891delinsGG
n.656_657delinsGG
7g.2543796C>ACA152671780BRAT1c.597G>T (p.Met199Ile)
c.449G>T (p.Trp150Leu)
n.613G>T
n.821G>T
n.457G>T
c.594G>T (p.Met198Ile)
c.567G>T (p.Met189Ile)
c.72G>T (p.Met24Ile)
n.890G>T
n.656G>T
 dbSNP gnomAD v4
7g.2543796C=CA1683201786BRAT1c.597G= (p.Met199=)
c.449G= (p.Trp150=)
n.613G=
n.821G=
n.457G=
c.594G= (p.Met198=)
c.567G= (p.Met189=)
c.72G= (p.Met24=)
n.890G=
n.656G=
7g.2543796C>GCA366632167BRAT1c.597G>C (p.Met199Ile)
c.449G>C (p.Trp150Ser)
n.613G>C
n.821G>C
n.457G>C
c.594G>C (p.Met198Ile)
c.567G>C (p.Met189Ile)
c.72G>C (p.Met24Ile)
n.890G>C
n.656G>C
 gnomAD v4
7g.2543796C>TCA366632166BRAT1c.597G>A (p.Met199Ile)
c.449G>A (p.Trp150Ter)
n.613G>A
n.821G>A
n.457G>A
c.594G>A (p.Met198Ile)
c.567G>A (p.Met189Ile)
c.72G>A (p.Met24Ile)
n.890G>A
n.656G>A
7g.2543797A>CCA366632168BRAT1c.596T>G (p.Met199Arg)
c.448T>G (p.Trp150Gly)
n.612T>G
n.820T>G
n.456T>G
c.593T>G (p.Met198Arg)
c.566T>G (p.Met189Arg)
c.71T>G (p.Met24Arg)
n.889T>G
n.655T>G
7g.2543797A>GCA366632169BRAT1c.596T>C (p.Met199Thr)
c.448T>C (p.Trp150Arg)
n.612T>C
n.820T>C
n.456T>C
c.593T>C (p.Met198Thr)
c.566T>C (p.Met189Thr)
c.71T>C (p.Met24Thr)
n.889T>C
n.655T>C
7g.2543797A>TCA366632170BRAT1c.596T>A (p.Met199Lys)
c.448T>A (p.Trp150Arg)
n.612T>A
n.820T>A
n.456T>A
c.593T>A (p.Met198Lys)
c.566T>A (p.Met189Lys)
c.71T>A (p.Met24Lys)
n.889T>A
n.655T>A
7g.2543797_2543803delCA2681507244BRAT1c.590_596del (p.Lys197ArgfsTer20)
c.442_448del (p.Arg148GlyfsTer4)
n.606_612del
n.814_820del
n.450_456del
c.587_593del (p.Lys196ArgfsTer20)
c.560_566del (p.Lys187ArgfsTer20)
c.65_71del (p.Lys22ArgfsTer20)
n.883_889del
n.649_655del
 gnomAD v4
7g.2543798T>ACA366632171BRAT1c.595A>T (p.Met199Leu)
c.447A>T (p.Ser149=)
n.611A>T
n.819A>T
n.455A>T
c.592A>T (p.Met198Leu)
c.565A>T (p.Met189Leu)
c.70A>T (p.Met24Leu)
n.888A>T
n.654A>T
 gnomAD v4
7g.2543798T>CCA366632172BRAT1c.595A>G (p.Met199Val)
c.447A>G (p.Ser149=)
n.611A>G
n.819A>G
n.455A>G
c.592A>G (p.Met198Val)
c.565A>G (p.Met189Val)
c.70A>G (p.Met24Val)
n.888A>G
n.654A>G
 dbSNP gnomAD v3 gnomAD v4
7g.2543798T>GCA4128149BRAT1c.595A>C (p.Met199Leu)
c.447A>C (p.Ser149=)
n.611A>C
n.819A>C
n.455A>C
c.592A>C (p.Met198Leu)
c.565A>C (p.Met189Leu)
c.70A>C (p.Met24Leu)
n.888A>C
n.654A>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
7g.2543798T=CA1683201787BRAT1c.595A= (p.Met199=)
c.447A= (p.Ser149=)
n.611A=
n.819A=
n.455A=
c.592A= (p.Met198=)
c.565A= (p.Met189=)
c.70A= (p.Met24=)
n.888A=
n.654A=
7g.2543799G>ACA453628109BRAT1c.594C>T (p.Ile198=)
c.446C>T (p.Ser149Leu)
n.610C>T
n.818C>T
n.454C>T
c.591C>T (p.Ile197=)
c.564C>T (p.Ile188=)
c.69C>T (p.Ile23=)
n.887C>T
n.653C>T
 gnomAD v4
7g.2543799G>CCA366632173BRAT1c.594C>G (p.Ile198Met)
c.446C>G (p.Ser149Ter)
n.610C>G
n.818C>G
n.454C>G
c.591C>G (p.Ile197Met)
c.564C>G (p.Ile188Met)
c.69C>G (p.Ile23Met)
n.887C>G
n.653C>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.2543799G=CA1683201788BRAT1c.594C= (p.Ile198=)
c.446C= (p.Ser149=)
n.610C=
n.818C=
n.454C=
c.591C= (p.Ile197=)
c.564C= (p.Ile188=)
c.69C= (p.Ile23=)
n.887C=
n.653C=
7g.2543799G>TCA453628111BRAT1c.594C>A (p.Ile198=)
c.446C>A (p.Ser149Ter)
n.610C>A
n.818C>A
n.454C>A
c.591C>A (p.Ile197=)
c.564C>A (p.Ile188=)
c.69C>A (p.Ile23=)
n.887C>A
n.653C>A
7g.2543800A>CCA366632174BRAT1c.593T>G (p.Ile198Ser)
c.445T>G (p.Ser149Ala)
n.609T>G
n.817T>G
n.453T>G
c.590T>G (p.Ile197Ser)
c.563T>G (p.Ile188Ser)
c.68T>G (p.Ile23Ser)
n.886T>G
n.652T>G
7g.2543800A>GCA366632175BRAT1c.593T>C (p.Ile198Thr)
c.445T>C (p.Ser149Pro)
n.609T>C
n.817T>C
n.453T>C
c.590T>C (p.Ile197Thr)
c.563T>C (p.Ile188Thr)
c.68T>C (p.Ile23Thr)
n.886T>C
n.652T>C
7g.2543800A>TCA366632176BRAT1c.593T>A (p.Ile198Asn)
c.445T>A (p.Ser149Thr)
n.609T>A
n.817T>A
n.453T>A
c.590T>A (p.Ile197Asn)
c.563T>A (p.Ile188Asn)
c.68T>A (p.Ile23Asn)
n.886T>A
n.652T>A
7g.2543800_2543803delinsATCTCA1683201789BRAT1c.590_593delinsAGAT (p.Lys197=)
c.442_445delinsAGAT (p.Arg148=)
n.606_609delinsAGAT
n.814_817delinsAGAT
n.450_453delinsAGAT
c.587_590delinsAGAT (p.Lys196=)
c.560_563delinsAGAT (p.Lys187=)
c.65_68delinsAGAT (p.Lys22=)
n.883_886delinsAGAT
n.649_652delinsAGAT
7g.2543801T>ACA366632178BRAT1c.592A>T (p.Ile198Phe)
c.444A>T (p.Arg148Ser)
n.608A>T
n.816A>T
n.452A>T
c.589A>T (p.Ile197Phe)
c.562A>T (p.Ile188Phe)
c.67A>T (p.Ile23Phe)
n.885A>T
n.651A>T
7g.2543801T>CCA366632177BRAT1c.592A>G (p.Ile198Val)
c.444A>G (p.Arg148=)
n.608A>G
n.816A>G
n.452A>G
c.589A>G (p.Ile197Val)
c.562A>G (p.Ile188Val)
c.67A>G (p.Ile23Val)
n.885A>G
n.651A>G
7g.2543801T>GCA366632179BRAT1c.592A>C (p.Ile198Leu)
c.444A>C (p.Arg148Ser)
n.608A>C
n.816A>C
n.452A>C
c.589A>C (p.Ile197Leu)
c.562A>C (p.Ile188Leu)
c.67A>C (p.Ile23Leu)
n.885A>C
n.651A>C
7g.2543804_2543806delCA4128150BRAT1c.590_592del (p.Lys197del)
c.442_444del (p.Arg148del)
n.606_608del
n.814_816del
n.450_452del
c.587_589del (p.Lys196del)
c.560_562del (p.Lys187del)
c.65_67del (p.Lys22del)
n.883_885del
n.649_651del
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.2543802C>ACA366632181BRAT1c.591G>T (p.Lys197Asn)
c.443G>T (p.Arg148Ile)
n.607G>T
n.815G>T
n.451G>T
c.588G>T (p.Lys196Asn)
c.561G>T (p.Lys187Asn)
c.66G>T (p.Lys22Asn)
n.884G>T
n.650G>T
 dbSNP gnomAD v2 gnomAD v4
7g.2543802C=CA1683201790BRAT1c.591G= (p.Lys197=)
c.443G= (p.Arg148=)
n.607G=
n.815G=
n.451G=
c.588G= (p.Lys196=)
c.561G= (p.Lys187=)
c.66G= (p.Lys22=)
n.884G=
n.650G=
7g.2543802C>GCA366632180BRAT1c.591G>C (p.Lys197Asn)
c.443G>C (p.Arg148Thr)
n.607G>C
n.815G>C
n.451G>C
c.588G>C (p.Lys196Asn)
c.561G>C (p.Lys187Asn)
c.66G>C (p.Lys22Asn)
n.884G>C
n.650G>C
7g.2543802C>TCA4128151BRAT1c.591G>A (p.Lys197=)
c.443G>A (p.Arg148Lys)
n.607G>A
n.815G>A
n.451G>A
c.588G>A (p.Lys196=)
c.561G>A (p.Lys187=)
c.66G>A (p.Lys22=)
n.884G>A
n.650G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.2543802_2543803insACGTTGGACCTTTGTTTTGTTTTTGTTTTTGTTTTTTTTTTCTTTTTTCA572357891BRAT1c.590_591insAAAAAAGAAAAAAAAAACAAAAACAAAAACAAAACAAAGGTCCAACGT (p.Lys197_Ile198insLysLysLysLysLysThrLysThrLysThrLysGlnArgSerAsnVal)
c.442_443insAAAAAAGAAAAAAAAAACAAAAACAAAAACAAAACAAAGGTCCAACGT (p.Arg148LysfsTer17)
n.606_607insAAAAAAGAAAAAAAAAACAAAAACAAAAACAAAACAAAGGTCCAACGT
n.814_815insAAAAAAGAAAAAAAAAACAAAAACAAAAACAAAACAAAGGTCCAACGT
n.450_451insAAAAAAGAAAAAAAAAACAAAAACAAAAACAAAACAAAGGTCCAACGT
c.587_588insAAAAAAGAAAAAAAAAACAAAAACAAAAACAAAACAAAGGTCCAACGT (p.Lys196_Ile197insLysLysLysLysLysThrLysThrLysThrLysGlnArgSerAsnVal)
c.560_561insAAAAAAGAAAAAAAAAACAAAAACAAAAACAAAACAAAGGTCCAACGT (p.Lys187_Ile188insLysLysLysLysLysThrLysThrLysThrLysGlnArgSerAsnVal)
c.65_66insAAAAAAGAAAAAAAAAACAAAAACAAAAACAAAACAAAGGTCCAACGT (p.Lys22_Ile23insLysLysLysLysLysThrLysThrLysThrLysGlnArgSerAsnVal)
n.883_884insAAAAAAGAAAAAAAAAACAAAAACAAAAACAAAACAAAGGTCCAACGT
n.649_650insAAAAAAGAAAAAAAAAACAAAAACAAAAACAAAACAAAGGTCCAACGT
 dbSNP gnomAD v2
7g.2543803T>ACA366632182BRAT1c.590A>T (p.Lys197Met)
c.442A>T (p.Arg148Ter)
n.606A>T
n.814A>T
n.450A>T
c.587A>T (p.Lys196Met)
c.560A>T (p.Lys187Met)
c.65A>T (p.Lys22Met)
n.883A>T
n.649A>T
7g.2543803T>CCA366632184BRAT1c.590A>G (p.Lys197Arg)
c.442A>G (p.Arg148Gly)
n.606A>G
n.814A>G
n.450A>G
c.587A>G (p.Lys196Arg)
c.560A>G (p.Lys187Arg)
c.65A>G (p.Lys22Arg)
n.883A>G
n.649A>G
 dbSNP gnomAD v2 gnomAD v4
7g.2543803T>GCA366632183BRAT1c.590A>C (p.Lys197Thr)
c.442A>C (p.Arg148=)
n.606A>C
n.814A>C
n.450A>C
c.587A>C (p.Lys196Thr)
c.560A>C (p.Lys187Thr)
c.65A>C (p.Lys22Thr)
n.883A>C
n.649A>C
7g.2543803T=CA1683201791BRAT1c.590A= (p.Lys197=)
c.442A= (p.Arg148=)
n.606A=
n.814A=
n.450A=
c.587A= (p.Lys196=)
c.560A= (p.Lys187=)
c.65A= (p.Lys22=)
n.883A=
n.649A=
7g.2543804T>ACA366632185BRAT1c.589A>T (p.Lys197Ter)
c.441A>T (p.Arg147Ser)
n.605A>T
n.813A>T
n.449A>T
c.586A>T (p.Lys196Ter)
c.559A>T (p.Lys187Ter)
c.64A>T (p.Lys22Ter)
n.882A>T
n.648A>T
7g.2543804T>CCA366632186BRAT1c.589A>G (p.Lys197Glu)
c.441A>G (p.Arg147=)
n.605A>G
n.813A>G
n.449A>G
c.586A>G (p.Lys196Glu)
c.559A>G (p.Lys187Glu)
c.64A>G (p.Lys22Glu)
n.882A>G
n.648A>G
7g.2543804T>GCA366632187BRAT1c.589A>C (p.Lys197Gln)
c.441A>C (p.Arg147Ser)
n.605A>C
n.813A>C
n.449A>C
c.586A>C (p.Lys196Gln)
c.559A>C (p.Lys187Gln)
c.64A>C (p.Lys22Gln)
n.882A>C
n.648A>C
7g.2543805C>ACA366632188BRAT1c.588G>T (p.Gln196His)
c.440G>T (p.Arg147Ile)
n.604G>T
n.812G>T
n.448G>T
c.585G>T (p.Gln195His)
c.558G>T (p.Gln186His)
c.63G>T (p.Gln21His)
n.881G>T
n.647G>T
 COSMIC
7g.2543805C>GCA366632189BRAT1c.588G>C (p.Gln196His)
c.440G>C (p.Arg147Thr)
n.604G>C
n.812G>C
n.448G>C
c.585G>C (p.Gln195His)
c.558G>C (p.Gln186His)
c.63G>C (p.Gln21His)
n.881G>C
n.647G>C
7g.2543805C>TCA453628120BRAT1c.588G>A (p.Gln196=)
c.440G>A (p.Arg147Lys)
n.604G>A
n.812G>A
n.448G>A
c.585G>A (p.Gln195=)
c.558G>A (p.Gln186=)
c.63G>A (p.Gln21=)
n.881G>A
n.647G>A
7g.2543806T>ACA366632192BRAT1c.587A>T (p.Gln196Leu)
c.439A>T (p.Arg147Ter)
n.603A>T
n.811A>T
n.447A>T
c.584A>T (p.Gln195Leu)
c.557A>T (p.Gln186Leu)
c.62A>T (p.Gln21Leu)
n.880A>T
n.646A>T
7g.2543806T>CCA366632191BRAT1c.587A>G (p.Gln196Arg)
c.439A>G (p.Arg147Gly)
n.603A>G
n.811A>G
n.447A>G
c.584A>G (p.Gln195Arg)
c.557A>G (p.Gln186Arg)
c.62A>G (p.Gln21Arg)
n.880A>G
n.646A>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.2543806T>GCA366632190BRAT1c.587A>C (p.Gln196Pro)
c.439A>C (p.Arg147=)
n.603A>C
n.811A>C
n.447A>C
c.584A>C (p.Gln195Pro)
c.557A>C (p.Gln186Pro)
c.62A>C (p.Gln21Pro)
n.880A>C
n.646A>C
 dbSNP gnomAD v4
7g.2543806T=CA1683201792BRAT1c.587A= (p.Gln196=)
c.439A= (p.Arg147=)
n.603A=
n.811A=
n.447A=
c.584A= (p.Gln195=)
c.557A= (p.Gln186=)
c.62A= (p.Gln21=)
n.880A=
n.646A=
7g.2543807G>ACA366632193BRAT1c.586C>T (p.Gln196Ter)
c.438C>T (p.Pro146=)
n.602C>T
n.810C>T
n.446C>T
c.583C>T (p.Gln195Ter)
c.556C>T (p.Gln186Ter)
c.61C>T (p.Gln21Ter)
n.879C>T
n.645C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
7g.2543807G>CCA4128152BRAT1c.586C>G (p.Gln196Glu)
c.438C>G (p.Pro146=)
n.602C>G
n.810C>G
n.446C>G
c.583C>G (p.Gln195Glu)
c.556C>G (p.Gln186Glu)
c.61C>G (p.Gln21Glu)
n.879C>G
n.645C>G
 ClinVar dbSNP ExAC gnomAD v3 gnomAD v4
7g.2543807G=CA1683201793BRAT1c.586C= (p.Gln196=)
c.438C= (p.Pro146=)
n.602C=
n.810C=
n.446C=
c.583C= (p.Gln195=)
c.556C= (p.Gln186=)
c.61C= (p.Gln21=)
n.879C=
n.645C=
7g.2543807G>TCA366632194BRAT1c.586C>A (p.Gln196Lys)
c.438C>A (p.Pro146=)
n.602C>A
n.810C>A
n.446C>A
c.583C>A (p.Gln195Lys)
c.556C>A (p.Gln186Lys)
c.61C>A (p.Gln21Lys)
n.879C>A
n.645C>A
7g.2543807_2543821dupCA572357892BRAT1c.572_586dup (p.Ala195_Gln196insArgProAlaCysAla)
c.424_438dup (p.Pro146_Arg147insGlyProArgValPro)
n.588_602dup
n.796_810dup
n.432_446dup
c.569_583dup (p.Ala194_Gln195insArgProAlaCysAla)
c.542_556dup (p.Ala185_Gln186insArgProAlaCysAla)
c.47_61dup (p.Ala20_Gln21insArgProAlaCysAla)
n.865_879dup
n.631_645dup
 gnomAD v2 gnomAD v4
7g.2543808G>ACA453628121BRAT1c.585C>T (p.Ala195=)
c.437C>T (p.Pro146Leu)
n.601C>T
n.809C>T
n.445C>T
c.582C>T (p.Ala194=)
c.555C>T (p.Ala185=)
c.60C>T (p.Ala20=)
n.878C>T
n.644C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.2543808G>CCA152671813BRAT1c.585C>G (p.Ala195=)
c.437C>G (p.Pro146Arg)
n.601C>G
n.809C>G
n.445C>G
c.582C>G (p.Ala194=)
c.555C>G (p.Ala185=)
c.60C>G (p.Ala20=)
n.878C>G
n.644C>G
 dbSNP
7g.2543808G=CA1683201794BRAT1c.585C= (p.Ala195=)
c.437C= (p.Pro146=)
n.601C=
n.809C=
n.445C=
c.582C= (p.Ala194=)
c.555C= (p.Ala185=)
c.60C= (p.Ala20=)
n.878C=
n.644C=
7g.2543808G>TCA453628123BRAT1c.585C>A (p.Ala195=)
c.437C>A (p.Pro146His)
n.601C>A
n.809C>A
n.445C>A
c.582C>A (p.Ala194=)
c.555C>A (p.Ala185=)
c.60C>A (p.Ala20=)
n.878C>A
n.644C>A
7g.2543809G>ACA366632195BRAT1c.584C>T (p.Ala195Val)
c.436C>T (p.Pro146Ser)
n.600C>T
n.808C>T
n.444C>T
c.581C>T (p.Ala194Val)
c.554C>T (p.Ala185Val)
c.59C>T (p.Ala20Val)
n.877C>T
n.643C>T
 dbSNP gnomAD v4
7g.2543809G>CCA366632196BRAT1c.584C>G (p.Ala195Gly)
c.436C>G (p.Pro146Ala)
n.600C>G
n.808C>G
n.444C>G
c.581C>G (p.Ala194Gly)
c.554C>G (p.Ala185Gly)
c.59C>G (p.Ala20Gly)
n.877C>G
n.643C>G
7g.2543809G=CA1683201795BRAT1c.584C= (p.Ala195=)
c.436C= (p.Pro146=)
n.600C=
n.808C=
n.444C=
c.581C= (p.Ala194=)
c.554C= (p.Ala185=)
c.59C= (p.Ala20=)
n.877C=
n.643C=
7g.2543809G>TCA366632197BRAT1c.584C>A (p.Ala195Asp)
c.436C>A (p.Pro146Thr)
n.600C>A
n.808C>A
n.444C>A
c.581C>A (p.Ala194Asp)
c.554C>A (p.Ala185Asp)
c.59C>A (p.Ala20Asp)
n.877C>A
n.643C>A
7g.2543810C>ACA366632200BRAT1c.583G>T (p.Ala195Ser)
c.435G>T (p.Val145=)
n.599G>T
n.807G>T
n.443G>T
c.580G>T (p.Ala194Ser)
c.553G>T (p.Ala185Ser)
c.58G>T (p.Ala20Ser)
n.876G>T
n.642G>T
7g.2543810C>GCA366632198BRAT1c.583G>C (p.Ala195Pro)
c.435G>C (p.Val145=)
n.599G>C
n.807G>C
n.443G>C
c.580G>C (p.Ala194Pro)
c.553G>C (p.Ala185Pro)
c.58G>C (p.Ala20Pro)
n.876G>C
n.642G>C
7g.2543810C>TCA366632199BRAT1c.583G>A (p.Ala195Thr)
c.435G>A (p.Val145=)
n.599G>A
n.807G>A
n.443G>A
c.580G>A (p.Ala194Thr)
c.553G>A (p.Ala185Thr)
c.58G>A (p.Ala20Thr)
n.876G>A
n.642G>A
7g.2543811A>CCA366632201BRAT1c.582T>G (p.Cys194Trp)
c.434T>G (p.Val145Gly)
n.598T>G
n.806T>G
n.442T>G
c.579T>G (p.Cys193Trp)
c.552T>G (p.Cys184Trp)
c.57T>G (p.Cys19Trp)
n.875T>G
n.641T>G
7g.2543811A>GCA453628124BRAT1c.582T>C (p.Cys194=)
c.434T>C (p.Val145Ala)
n.598T>C
n.806T>C
n.442T>C
c.579T>C (p.Cys193=)
c.552T>C (p.Cys184=)
c.57T>C (p.Cys19=)
n.875T>C
n.641T>C
7g.2543811A>TCA366632202BRAT1c.582T>A (p.Cys194Ter)
c.434T>A (p.Val145Glu)
n.598T>A
n.806T>A
n.442T>A
c.579T>A (p.Cys193Ter)
c.552T>A (p.Cys184Ter)
c.57T>A (p.Cys19Ter)
n.875T>A
n.641T>A
7g.2543812C>ACA366632203BRAT1c.581G>T (p.Cys194Phe)
c.433G>T (p.Val145Leu)
n.597G>T
n.805G>T
n.441G>T
c.578G>T (p.Cys193Phe)
c.551G>T (p.Cys184Phe)
c.56G>T (p.Cys19Phe)
n.874G>T
n.640G>T
7g.2543812C>GCA366632204BRAT1c.581G>C (p.Cys194Ser)
c.433G>C (p.Val145Leu)
n.597G>C
n.805G>C
n.441G>C
c.578G>C (p.Cys193Ser)
c.551G>C (p.Cys184Ser)
c.56G>C (p.Cys19Ser)
n.874G>C
n.640G>C
7g.2543812C>TCA366632205BRAT1c.581G>A (p.Cys194Tyr)
c.433G>A (p.Val145Met)
n.597G>A
n.805G>A
n.441G>A
c.578G>A (p.Cys193Tyr)
c.551G>A (p.Cys184Tyr)
c.56G>A (p.Cys19Tyr)
n.874G>A
n.640G>A
 gnomAD v4
7g.2543813A>CCA366632206BRAT1c.580T>G (p.Cys194Gly)
c.432T>G (p.Arg144=)
n.596T>G
n.804T>G
n.440T>G
c.577T>G (p.Cys193Gly)
c.550T>G (p.Cys184Gly)
c.55T>G (p.Cys19Gly)
n.873T>G
n.639T>G
7g.2543813A>GCA366632207BRAT1c.580T>C (p.Cys194Arg)
c.432T>C (p.Arg144=)
n.596T>C
n.804T>C
n.440T>C
c.577T>C (p.Cys193Arg)
c.550T>C (p.Cys184Arg)
c.55T>C (p.Cys19Arg)
n.873T>C
n.639T>C
 gnomAD v4
7g.2543813A>TCA366632208BRAT1c.580T>A (p.Cys194Ser)
c.432T>A (p.Arg144=)
n.596T>A
n.804T>A
n.440T>A
c.577T>A (p.Cys193Ser)
c.550T>A (p.Cys184Ser)
c.55T>A (p.Cys19Ser)
n.873T>A
n.639T>A
7g.2543814C>ACA453628125BRAT1c.579G>T (p.Ala193=)
c.431G>T (p.Arg144Leu)
n.595G>T
n.803G>T
n.439G>T
c.576G>T (p.Ala192=)
c.549G>T (p.Ala183=)
c.54G>T (p.Ala18=)
n.872G>T
n.638G>T
 dbSNP gnomAD v2 gnomAD v4
7g.2543814C=CA1683201796BRAT1c.579G= (p.Ala193=)
c.431G= (p.Arg144=)
n.595G=
n.803G=
n.439G=
c.576G= (p.Ala192=)
c.549G= (p.Ala183=)
c.54G= (p.Ala18=)
n.872G=
n.638G=
7g.2543814C>GCA453628126BRAT1c.579G>C (p.Ala193=)
c.431G>C (p.Arg144Pro)
n.595G>C
n.803G>C
n.439G>C
c.576G>C (p.Ala192=)
c.549G>C (p.Ala183=)
c.54G>C (p.Ala18=)
n.872G>C
n.638G>C
 gnomAD v4
7g.2543814C>TCA4128153BRAT1c.579G>A (p.Ala193=)
c.431G>A (p.Arg144His)
n.595G>A
n.803G>A
n.439G>A
c.576G>A (p.Ala192=)
c.549G>A (p.Ala183=)
c.54G>A (p.Ala18=)
n.872G>A
n.638G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.2543815G>ACA4128154BRAT1c.578C>T (p.Ala193Val)
c.430C>T (p.Arg144Cys)
n.594C>T
n.802C>T
n.438C>T
c.575C>T (p.Ala192Val)
c.548C>T (p.Ala183Val)
c.53C>T (p.Ala18Val)
n.871C>T
n.637C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.2543815G>CCA366632209BRAT1c.578C>G (p.Ala193Gly)
c.430C>G (p.Arg144Gly)
n.594C>G
n.802C>G
n.438C>G
c.575C>G (p.Ala192Gly)
c.548C>G (p.Ala183Gly)
c.53C>G (p.Ala18Gly)
n.871C>G
n.637C>G
7g.2543815G=CA1683201797BRAT1c.578C= (p.Ala193=)
c.430C= (p.Arg144=)
n.594C=
n.802C=
n.438C=
c.575C= (p.Ala192=)
c.548C= (p.Ala183=)
c.53C= (p.Ala18=)
n.871C=
n.637C=
7g.2543815G>TCA366632210BRAT1c.578C>A (p.Ala193Glu)
c.430C>A (p.Arg144Ser)
n.594C>A
n.802C>A
n.438C>A
c.575C>A (p.Ala192Glu)
c.548C>A (p.Ala183Glu)
c.53C>A (p.Ala18Glu)
n.871C>A
n.637C>A
7g.2543816C>ACA366632211BRAT1c.577G>T (p.Ala193Ser)
c.429G>T (p.Pro143=)
n.593G>T
n.801G>T
n.437G>T
c.574G>T (p.Ala192Ser)
c.547G>T (p.Ala183Ser)
c.52G>T (p.Ala18Ser)
n.870G>T
n.636G>T
7g.2543816C=CA1683201798BRAT1c.577G= (p.Ala193=)
c.429G= (p.Pro143=)
n.593G=
n.801G=
n.437G=
c.574G= (p.Ala192=)
c.547G= (p.Ala183=)
c.52G= (p.Ala18=)
n.870G=
n.636G=
7g.2543816C>GCA366632212BRAT1c.577G>C (p.Ala193Pro)
c.429G>C (p.Pro143=)
n.593G>C
n.801G>C
n.437G>C
c.574G>C (p.Ala192Pro)
c.547G>C (p.Ala183Pro)
c.52G>C (p.Ala18Pro)
n.870G>C
n.636G>C
7g.2543816C>TCA152671837BRAT1c.577G>A (p.Ala193Thr)
c.429G>A (p.Pro143=)
n.593G>A
n.801G>A
n.437G>A
c.574G>A (p.Ala192Thr)
c.547G>A (p.Ala183Thr)
c.52G>A (p.Ala18Thr)
n.870G>A
n.636G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
7g.2543817G>ACA4128155BRAT1c.576C>T (p.Pro192=)
c.428C>T (p.Pro143Leu)
n.592C>T
n.800C>T
n.436C>T
c.573C>T (p.Pro191=)
c.546C>T (p.Pro182=)
c.51C>T (p.Pro17=)
n.869C>T
n.635C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.2543817G>CCA453628127BRAT1c.576C>G (p.Pro192=)
c.428C>G (p.Pro143Arg)
n.592C>G
n.800C>G
n.436C>G
c.573C>G (p.Pro191=)
c.546C>G (p.Pro182=)
c.51C>G (p.Pro17=)
n.869C>G
n.635C>G
7g.2543817G=CA1683201799BRAT1c.576C= (p.Pro192=)
c.428C= (p.Pro143=)
n.592C=
n.800C=
n.436C=
c.573C= (p.Pro191=)
c.546C= (p.Pro182=)
c.51C= (p.Pro17=)
n.869C=
n.635C=
7g.2543817G>TCA453628128BRAT1c.576C>A (p.Pro192=)
c.428C>A (p.Pro143Gln)
n.592C>A
n.800C>A
n.436C>A
c.573C>A (p.Pro191=)
c.546C>A (p.Pro182=)
c.51C>A (p.Pro17=)
n.869C>A
n.635C>A
7g.2543818G>ACA4128156BRAT1c.575C>T (p.Pro192Leu)
c.427C>T (p.Pro143Ser)
n.591C>T
n.799C>T
n.435C>T
c.572C>T (p.Pro191Leu)
c.545C>T (p.Pro182Leu)
c.50C>T (p.Pro17Leu)
n.868C>T
n.634C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.2543818G>CCA366632213BRAT1c.575C>G (p.Pro192Arg)
c.427C>G (p.Pro143Ala)
n.591C>G
n.799C>G
n.435C>G
c.572C>G (p.Pro191Arg)
c.545C>G (p.Pro182Arg)
c.50C>G (p.Pro17Arg)
n.868C>G
n.634C>G
7g.2543818G=CA1683201800BRAT1c.575C= (p.Pro192=)
c.427C= (p.Pro143=)
n.591C=
n.799C=
n.435C=
c.572C= (p.Pro191=)
c.545C= (p.Pro182=)
c.50C= (p.Pro17=)
n.868C=
n.634C=
7g.2543818G>TCA366632214BRAT1c.575C>A (p.Pro192His)
c.427C>A (p.Pro143Thr)
n.591C>A
n.799C>A
n.435C>A
c.572C>A (p.Pro191His)
c.545C>A (p.Pro182His)
c.50C>A (p.Pro17His)
n.868C>A
n.634C>A
7g.2543819G>ACA366632215BRAT1c.574C>T (p.Pro192Ser)
c.426C>T (p.Gly142=)
n.590C>T
n.798C>T
n.434C>T
c.571C>T (p.Pro191Ser)
c.544C>T (p.Pro182Ser)
c.49C>T (p.Pro17Ser)
n.867C>T
n.633C>T
 dbSNP gnomAD v2 gnomAD v4
7g.2543819G>CCA366632216BRAT1c.574C>G (p.Pro192Ala)
c.426C>G (p.Gly142=)
n.590C>G
n.798C>G
n.434C>G
c.571C>G (p.Pro191Ala)
c.544C>G (p.Pro182Ala)
c.49C>G (p.Pro17Ala)
n.867C>G
n.633C>G
7g.2543819G=CA1683201801BRAT1c.574C= (p.Pro192=)
c.426C= (p.Gly142=)
n.590C=
n.798C=
n.434C=
c.571C= (p.Pro191=)
c.544C= (p.Pro182=)
c.49C= (p.Pro17=)
n.867C=
n.633C=
7g.2543819G>TCA366632217BRAT1c.574C>A (p.Pro192Thr)
c.426C>A (p.Gly142=)
n.590C>A
n.798C>A
n.434C>A
c.571C>A (p.Pro191Thr)
c.544C>A (p.Pro182Thr)
c.49C>A (p.Pro17Thr)
n.867C>A
n.633C>A
7g.2543820C>ACA366632218BRAT1c.573G>T (p.Trp191Cys)
c.425G>T (p.Gly142Val)
n.589G>T
n.797G>T
n.433G>T
c.570G>T (p.Trp190Cys)
c.543G>T (p.Trp181Cys)
c.48G>T (p.Trp16Cys)
n.866G>T
n.632G>T
7g.2543820C=CA1683201802BRAT1c.573G= (p.Trp191=)
c.425G= (p.Gly142=)
n.589G=
n.797G=
n.433G=
c.570G= (p.Trp190=)
c.543G= (p.Trp181=)
c.48G= (p.Trp16=)
n.866G=
n.632G=
7g.2543820C>GCA366632219BRAT1c.573G>C (p.Trp191Cys)
c.425G>C (p.Gly142Ala)
n.589G>C
n.797G>C
n.433G>C
c.570G>C (p.Trp190Cys)
c.543G>C (p.Trp181Cys)
c.48G>C (p.Trp16Cys)
n.866G>C
n.632G>C
7g.2543820C>TCA4128157BRAT1c.573G>A (p.Trp191Ter)
c.425G>A (p.Gly142Asp)
n.589G>A
n.797G>A
n.433G>A
c.570G>A (p.Trp190Ter)
c.543G>A (p.Trp181Ter)
c.48G>A (p.Trp16Ter)
n.866G>A
n.632G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.2543821delCA2532324260BRAT1c.573del (p.Trp191CysfsTer28)
c.425del (p.Gly142AlafsTer12)
n.589del
n.797del
n.433del
c.570del (p.Trp190CysfsTer28)
c.543del (p.Trp181CysfsTer28)
c.48del (p.Trp16CysfsTer28)
n.866del
n.632del
7g.2543821C>ACA366632220BRAT1c.572G>T (p.Trp191Leu)
c.424G>T (p.Gly142Cys)
n.588G>T
n.796G>T
n.432G>T
c.569G>T (p.Trp190Leu)
c.542G>T (p.Trp181Leu)
c.47G>T (p.Trp16Leu)
n.865G>T
n.631G>T
7g.2543821C>GCA366632221BRAT1c.572G>C (p.Trp191Ser)
c.424G>C (p.Gly142Arg)
n.588G>C
n.796G>C
n.432G>C
c.569G>C (p.Trp190Ser)
c.542G>C (p.Trp181Ser)
c.47G>C (p.Trp16Ser)
n.865G>C
n.631G>C
7g.2543821C>TCA366632222BRAT1c.572G>A (p.Trp191Ter)
c.424G>A (p.Gly142Ser)
n.588G>A
n.796G>A
n.432G>A
c.569G>A (p.Trp190Ter)
c.542G>A (p.Trp181Ter)
c.47G>A (p.Trp16Ter)
n.865G>A
n.631G>A
7g.2543822A>CCA366632223BRAT1c.571T>G (p.Trp191Gly)
c.423T>G (p.Thr141=)
n.587T>G
n.795T>G
n.431T>G
c.568T>G (p.Trp190Gly)
c.541T>G (p.Trp181Gly)
c.46T>G (p.Trp16Gly)
n.864T>G
n.630T>G
7g.2543822A>GCA366632225BRAT1c.571T>C (p.Trp191Arg)
c.423T>C (p.Thr141=)
n.587T>C
n.795T>C
n.431T>C
c.568T>C (p.Trp190Arg)
c.541T>C (p.Trp181Arg)
c.46T>C (p.Trp16Arg)
n.864T>C
n.630T>C
7g.2543822A>TCA366632224BRAT1c.571T>A (p.Trp191Arg)
c.423T>A (p.Thr141=)
n.587T>A
n.795T>A
n.431T>A
c.568T>A (p.Trp190Arg)
c.541T>A (p.Trp181Arg)
c.46T>A (p.Trp16Arg)
n.864T>A
n.630T>A
7g.2543823G>ACA4128158BRAT1c.570C>T (p.Asp190=)
c.422C>T (p.Thr141Ile)
n.586C>T
n.794C>T
n.430C>T
c.567C>T (p.Asp189=)
c.540C>T (p.Asp180=)
c.45C>T (p.Asp15=)
n.863C>T
n.629C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.2543823G>CCA366632226BRAT1c.570C>G (p.Asp190Glu)
c.422C>G (p.Thr141Ser)
n.586C>G
n.794C>G
n.430C>G
c.567C>G (p.Asp189Glu)
c.540C>G (p.Asp180Glu)
c.45C>G (p.Asp15Glu)
n.863C>G
n.629C>G
7g.2543823G=CA1683201803BRAT1c.570C= (p.Asp190=)
c.422C= (p.Thr141=)
n.586C=
n.794C=
n.430C=
c.567C= (p.Asp189=)
c.540C= (p.Asp180=)
c.45C= (p.Asp15=)
n.863C=
n.629C=
7g.2543823G>TCA366632227BRAT1c.570C>A (p.Asp190Glu)
c.422C>A (p.Thr141Asn)
n.586C>A
n.794C>A
n.430C>A
c.567C>A (p.Asp189Glu)
c.540C>A (p.Asp180Glu)
c.45C>A (p.Asp15Glu)
n.863C>A
n.629C>A
 gnomAD v4
7g.2543824T>ACA366632228BRAT1c.569A>T (p.Asp190Val)
c.421A>T (p.Thr141Ser)
n.585A>T
n.793A>T
n.429A>T
c.566A>T (p.Asp189Val)
c.539A>T (p.Asp180Val)
c.44A>T (p.Asp15Val)
n.862A>T
n.628A>T
7g.2543824T>CCA366632229BRAT1c.569A>G (p.Asp190Gly)
c.421A>G (p.Thr141Ala)
n.585A>G
n.793A>G
n.429A>G
c.566A>G (p.Asp189Gly)
c.539A>G (p.Asp180Gly)
c.44A>G (p.Asp15Gly)
n.862A>G
n.628A>G
7g.2543824T>GCA366632230BRAT1c.569A>C (p.Asp190Ala)
c.421A>C (p.Thr141Pro)
n.585A>C
n.793A>C
n.429A>C
c.566A>C (p.Asp189Ala)
c.539A>C (p.Asp180Ala)
c.44A>C (p.Asp15Ala)
n.862A>C
n.628A>C
7g.2543825C>ACA366632231BRAT1c.568G>T (p.Asp190Tyr)
c.420G>T (p.Val140=)
n.584G>T
n.792G>T
n.428G>T
c.565G>T (p.Asp189Tyr)
c.538G>T (p.Asp180Tyr)
c.43G>T (p.Asp15Tyr)
n.861G>T
n.627G>T
7g.2543825C>GCA366632232BRAT1c.568G>C (p.Asp190His)
c.420G>C (p.Val140=)
n.584G>C
n.792G>C
n.428G>C
c.565G>C (p.Asp189His)
c.538G>C (p.Asp180His)
c.43G>C (p.Asp15His)
n.861G>C
n.627G>C
7g.2543825C>TCA366632233BRAT1c.568G>A (p.Asp190Asn)
c.420G>A (p.Val140=)
n.584G>A
n.792G>A
n.428G>A
c.565G>A (p.Asp189Asn)
c.538G>A (p.Asp180Asn)
c.43G>A (p.Asp15Asn)
n.861G>A
n.627G>A
7g.2543826A=CA1683201805BRAT1c.567T= (p.Gly189=)
c.419T= (p.Val140=)
n.583T=
n.791T=
n.427T=
c.564T= (p.Gly188=)
c.537T= (p.Gly179=)
c.42T= (p.Gly14=)
n.860T=
n.626T=
7g.2543826A>CCA453628131BRAT1c.567T>G (p.Gly189=)
c.419T>G (p.Val140Gly)
n.583T>G
n.791T>G
n.427T>G
c.564T>G (p.Gly188=)
c.537T>G (p.Gly179=)
c.42T>G (p.Gly14=)
n.860T>G
n.626T>G
7g.2543826A>GCA453628129BRAT1c.567T>C (p.Gly189=)
c.419T>C (p.Val140Ala)
n.583T>C
n.791T>C
n.427T>C
c.564T>C (p.Gly188=)
c.537T>C (p.Gly179=)
c.42T>C (p.Gly14=)
n.860T>C
n.626T>C
 dbSNP gnomAD v2 gnomAD v4
7g.2543826A>TCA453628130BRAT1c.567T>A (p.Gly189=)
c.419T>A (p.Val140Glu)
n.583T>A
n.791T>A
n.427T>A
c.564T>A (p.Gly188=)
c.537T>A (p.Gly179=)
c.42T>A (p.Gly14=)
n.860T>A
n.626T>A
7g.2543826_2543827delinsACCA1683201804BRAT1c.566_567delinsGT (p.Gly189=)
c.418_419delinsGT (p.Val140=)
n.582_583delinsGT
n.790_791delinsGT
n.426_427delinsGT
c.563_564delinsGT (p.Gly188=)
c.536_537delinsGT (p.Gly179=)
c.41_42delinsGT (p.Gly14=)
n.859_860delinsGT
n.625_626delinsGT
7g.2543827C>ACA4128160BRAT1c.566G>T (p.Gly189Val)
c.418G>T (p.Val140Leu)
n.582G>T
n.790G>T
n.426G>T
c.563G>T (p.Gly188Val)
c.536G>T (p.Gly179Val)
c.41G>T (p.Gly14Val)
n.859G>T
n.625G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.2543827C=CA1683201806BRAT1c.566G= (p.Gly189=)
c.418G= (p.Val140=)
n.582G=
n.790G=
n.426G=
c.563G= (p.Gly188=)
c.536G= (p.Gly179=)
c.41G= (p.Gly14=)
n.859G=
n.625G=
7g.2543827C>GCA366632234BRAT1c.566G>C (p.Gly189Ala)
c.418G>C (p.Val140Leu)
n.582G>C
n.790G>C
n.426G>C
c.563G>C (p.Gly188Ala)
c.536G>C (p.Gly179Ala)
c.41G>C (p.Gly14Ala)
n.859G>C
n.625G>C
7g.2543827C>TCA4128159BRAT1c.566G>A (p.Gly189Asp)
c.418G>A (p.Val140Met)
n.582G>A
n.790G>A
n.426G>A
c.563G>A (p.Gly188Asp)
c.536G>A (p.Gly179Asp)
c.41G>A (p.Gly14Asp)
n.859G>A
n.625G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.2543832dupCA572357893BRAT1c.566dup (p.Asp190Ter)
c.418dup (p.Val140GlyfsTer?)
n.582dup
n.790dup
n.426dup
c.563dup (p.Asp189Ter)
c.536dup (p.Asp180Ter)
c.41dup (p.Asp15Ter)
n.859dup
n.625dup
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.2543832delCA572357894BRAT1c.566del (p.Gly189ValfsTer30)
c.418del (p.Val140Ter)
n.582del
n.790del
n.426del
c.563del (p.Gly188ValfsTer30)
c.536del (p.Gly179ValfsTer30)
c.41del (p.Gly14ValfsTer30)
n.859del
n.625del
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.2543828C>ACA366632235BRAT1c.565G>T (p.Gly189Cys)
c.417G>T (p.Gly139=)
n.581G>T
n.789G>T
n.425G>T
c.562G>T (p.Gly188Cys)
c.535G>T (p.Gly179Cys)
c.40G>T (p.Gly14Cys)
n.858G>T
n.624G>T
 gnomAD v4
7g.2543828C=CA1683201807BRAT1c.565G= (p.Gly189=)
c.417G= (p.Gly139=)
n.581G=
n.789G=
n.425G=
c.562G= (p.Gly188=)
c.535G= (p.Gly179=)
c.40G= (p.Gly14=)
n.858G=
n.624G=
7g.2543828C>GCA366632236BRAT1c.565G>C (p.Gly189Arg)
c.417G>C (p.Gly139=)
n.581G>C
n.789G>C
n.425G>C
c.562G>C (p.Gly188Arg)
c.535G>C (p.Gly179Arg)
c.40G>C (p.Gly14Arg)
n.858G>C
n.624G>C
 ClinVar dbSNP
7g.2543828C>TCA4128161BRAT1c.565G>A (p.Gly189Ser)
c.417G>A (p.Gly139=)
n.581G>A
n.789G>A
n.425G>A
c.562G>A (p.Gly188Ser)
c.535G>A (p.Gly179Ser)
c.40G>A (p.Gly14Ser)
n.858G>A
n.624G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.2543829C>ACA453628132BRAT1c.564G>T (p.Gly188=)
c.416G>T (p.Gly139Val)
n.580G>T
n.788G>T
n.424G>T
c.561G>T (p.Gly187=)
c.534G>T (p.Gly178=)
c.39G>T (p.Gly13=)
n.857G>T
n.623G>T
7g.2543829C>GCA453628134BRAT1c.564G>C (p.Gly188=)
c.416G>C (p.Gly139Ala)
n.580G>C
n.788G>C
n.424G>C
c.561G>C (p.Gly187=)
c.534G>C (p.Gly178=)
c.39G>C (p.Gly13=)
n.857G>C
n.623G>C
7g.2543829C>TCA453628133BRAT1c.564G>A (p.Gly188=)
c.416G>A (p.Gly139Glu)
n.580G>A
n.788G>A
n.424G>A
c.561G>A (p.Gly187=)
c.534G>A (p.Gly178=)
c.39G>A (p.Gly13=)
n.857G>A
n.623G>A
7g.2543830C>ACA4128162BRAT1c.563G>T (p.Gly188Val)
c.415G>T (p.Gly139Trp)
n.579G>T
n.787G>T
n.423G>T
c.560G>T (p.Gly187Val)
c.533G>T (p.Gly178Val)
c.38G>T (p.Gly13Val)
n.856G>T
n.622G>T
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
7g.2543830C=CA1683201808BRAT1c.563G= (p.Gly188=)
c.415G= (p.Gly139=)
n.579G=
n.787G=
n.423G=
c.560G= (p.Gly187=)
c.533G= (p.Gly178=)
c.38G= (p.Gly13=)
n.856G=
n.622G=
7g.2543830C>GCA4128163BRAT1c.563G>C (p.Gly188Ala)
c.415G>C (p.Gly139Arg)
n.579G>C
n.787G>C
n.423G>C
c.560G>C (p.Gly187Ala)
c.533G>C (p.Gly178Ala)
c.38G>C (p.Gly13Ala)
n.856G>C
n.622G>C
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.2543830C>TCA366632237BRAT1c.563G>A (p.Gly188Glu)
c.415G>A (p.Gly139Arg)
n.579G>A
n.787G>A
n.423G>A
c.560G>A (p.Gly187Glu)
c.533G>A (p.Gly178Glu)
c.38G>A (p.Gly13Glu)
n.856G>A
n.622G>A
7g.2543831C>ACA366632238BRAT1c.562G>T (p.Gly188Trp)
c.414G>T (p.Arg138=)
n.578G>T
n.786G>T
n.422G>T
c.559G>T (p.Gly187Trp)
c.532G>T (p.Gly178Trp)
c.37G>T (p.Gly13Trp)
n.855G>T
n.621G>T
7g.2543831C>GCA366632239BRAT1c.562G>C (p.Gly188Arg)
c.414G>C (p.Arg138=)
n.578G>C
n.786G>C
n.422G>C
c.559G>C (p.Gly187Arg)
c.532G>C (p.Gly178Arg)
c.37G>C (p.Gly13Arg)
n.855G>C
n.621G>C
7g.2543831C>TCA366632240BRAT1c.562G>A (p.Gly188Arg)
c.414G>A (p.Arg138=)
n.578G>A
n.786G>A
n.422G>A
c.559G>A (p.Gly187Arg)
c.532G>A (p.Gly178Arg)
c.37G>A (p.Gly13Arg)
n.855G>A
n.621G>A
7g.2543832C>ACA453628135BRAT1c.561G>T (p.Pro187=)
c.413G>T (p.Arg138Leu)
n.577G>T
n.785G>T
n.421G>T
c.558G>T (p.Pro186=)
c.531G>T (p.Pro177=)
c.36G>T (p.Pro12=)
n.854G>T
n.620G>T
7g.2543832C=CA1683201809BRAT1c.561G= (p.Pro187=)
c.413G= (p.Arg138=)
n.577G=
n.785G=
n.421G=
c.558G= (p.Pro186=)
c.531G= (p.Pro177=)
c.36G= (p.Pro12=)
n.854G=
n.620G=
7g.2543832C>GCA453628136BRAT1c.561G>C (p.Pro187=)
c.413G>C (p.Arg138Pro)
n.577G>C
n.785G>C
n.421G>C
c.558G>C (p.Pro186=)
c.531G>C (p.Pro177=)
c.36G>C (p.Pro12=)
n.854G>C
n.620G>C
 gnomAD v4
7g.2543832C>TCA4128164BRAT1c.561G>A (p.Pro187=)
c.413G>A (p.Arg138Gln)
n.577G>A
n.785G>A
n.421G>A
c.558G>A (p.Pro186=)
c.531G>A (p.Pro177=)
c.36G>A (p.Pro12=)
n.854G>A
n.620G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.2543832_2543833insCGCA2580076702BRAT1c.560_561insCG (p.Asp190ValfsTer?)
c.412_413insCG (p.Arg138ProfsTer4)
n.576_577insCG
n.784_785insCG
n.420_421insCG
c.557_558insCG (p.Asp189ValfsTer?)
c.530_531insCG (p.Asp180ValfsTer?)
c.35_36insCG (p.Asp15ValfsTer?)
n.853_854insCG
n.619_620insCG
 ClinVar
7g.2543833G>ACA366632241BRAT1c.560C>T (p.Pro187Leu)
c.412C>T (p.Arg138Trp)
n.576C>T
n.784C>T
n.420C>T
c.557C>T (p.Pro186Leu)
c.530C>T (p.Pro177Leu)
c.35C>T (p.Pro12Leu)
n.853C>T
n.619C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
7g.2543833G>CCA4128165BRAT1c.560C>G (p.Pro187Arg)
c.412C>G (p.Arg138Gly)
n.576C>G
n.784C>G
n.420C>G
c.557C>G (p.Pro186Arg)
c.530C>G (p.Pro177Arg)
c.35C>G (p.Pro12Arg)
n.853C>G
n.619C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.2543833G=CA1683201810BRAT1c.560C= (p.Pro187=)
c.412C= (p.Arg138=)
n.576C=
n.784C=
n.420C=
c.557C= (p.Pro186=)
c.530C= (p.Pro177=)
c.35C= (p.Pro12=)
n.853C=
n.619C=
7g.2543833G>TCA366632242BRAT1c.560C>A (p.Pro187Gln)
c.412C>A (p.Arg138=)
n.576C>A
n.784C>A
n.420C>A
c.557C>A (p.Pro186Gln)
c.530C>A (p.Pro177Gln)
c.35C>A (p.Pro12Gln)
n.853C>A
n.619C>A
7g.2543834dupCA572357895BRAT1c.560dup (p.Asp190Ter)
c.412dup (p.Arg138ProfsTer?)
n.576dup
n.784dup
n.420dup
c.557dup (p.Asp189Ter)
c.530dup (p.Asp180Ter)
c.35dup (p.Asp15Ter)
n.853dup
n.619dup
 dbSNP gnomAD v2 gnomAD v4
7g.2543834G>ACA366632245BRAT1c.559C>T (p.Pro187Ser)
c.411C>T (p.Cys137=)
n.575C>T
n.783C>T
n.419C>T
c.556C>T (p.Pro186Ser)
c.529C>T (p.Pro177Ser)
c.34C>T (p.Pro12Ser)
n.852C>T
n.618C>T
 dbSNP gnomAD v2
7g.2543834G>CCA366632244BRAT1c.559C>G (p.Pro187Ala)
c.411C>G (p.Cys137Trp)
n.575C>G
n.783C>G
n.419C>G
c.556C>G (p.Pro186Ala)
c.529C>G (p.Pro177Ala)
c.34C>G (p.Pro12Ala)
n.852C>G
n.618C>G
7g.2543834G=CA1683201811BRAT1c.559C= (p.Pro187=)
c.411C= (p.Cys137=)
n.575C=
n.783C=
n.419C=
c.556C= (p.Pro186=)
c.529C= (p.Pro177=)
c.34C= (p.Pro12=)
n.852C=
n.618C=
7g.2543834G>TCA366632243BRAT1c.559C>A (p.Pro187Thr)
c.411C>A (p.Cys137Ter)
n.575C>A
n.783C>A
n.419C>A
c.556C>A (p.Pro186Thr)
c.529C>A (p.Pro177Thr)
c.34C>A (p.Pro12Thr)
n.852C>A
n.618C>A
7g.2543834_2543835insTATGTGTCACCA2681507252BRAT1c.558_559insGTGACACATA (p.Pro187ValfsTer7)
c.410_411insGTGACACATA (p.Cys137TrpfsTer2)
n.574_575insGTGACACATA
n.782_783insGTGACACATA
n.418_419insGTGACACATA
c.555_556insGTGACACATA (p.Pro186ValfsTer7)
c.528_529insGTGACACATA (p.Pro177ValfsTer7)
c.33_34insGTGACACATA (p.Pro12ValfsTer7)
n.851_852insGTGACACATA
n.617_618insGTGACACATA
 gnomAD v4
7g.2543835C>ACA453628138BRAT1c.558G>T (p.Leu186=)
c.410G>T (p.Cys137Phe)
n.574G>T
n.782G>T
n.418G>T
c.555G>T (p.Leu185=)
c.528G>T (p.Leu176=)
c.33G>T (p.Leu11=)
n.851G>T
n.617G>T
7g.2543835C>GCA453628139BRAT1c.558G>C (p.Leu186=)
c.410G>C (p.Cys137Ser)
n.574G>C
n.782G>C
n.418G>C
c.555G>C (p.Leu185=)
c.528G>C (p.Leu176=)
c.33G>C (p.Leu11=)
n.851G>C
n.617G>C
7g.2543835C>TCA453628140BRAT1c.558G>A (p.Leu186=)
c.410G>A (p.Cys137Tyr)
n.574G>A
n.782G>A
n.418G>A
c.555G>A (p.Leu185=)
c.528G>A (p.Leu176=)
c.33G>A (p.Leu11=)
n.851G>A
n.617G>A
7g.2543836A=CA1683201812BRAT1c.557T= (p.Leu186=)
c.409T= (p.Cys137=)
n.573T=
n.781T=
n.417T=
c.554T= (p.Leu185=)
c.527T= (p.Leu176=)
c.32T= (p.Leu11=)
n.850T=
n.616T=
7g.2543836A>CCA366632246BRAT1c.557T>G (p.Leu186Arg)
c.409T>G (p.Cys137Gly)
n.573T>G
n.781T>G
n.417T>G
c.554T>G (p.Leu185Arg)
c.527T>G (p.Leu176Arg)
c.32T>G (p.Leu11Arg)
n.850T>G
n.616T>G
 gnomAD v4
7g.2543836A>GCA4128166BRAT1c.557T>C (p.Leu186Pro)
c.409T>C (p.Cys137Arg)
n.573T>C
n.781T>C
n.417T>C
c.554T>C (p.Leu185Pro)
c.527T>C (p.Leu176Pro)
c.32T>C (p.Leu11Pro)
n.850T>C
n.616T>C
 dbSNP ExAC gnomAD v2
7g.2543836A>TCA366632247BRAT1c.557T>A (p.Leu186Gln)
c.409T>A (p.Cys137Ser)
n.573T>A
n.781T>A
n.417T>A
c.554T>A (p.Leu185Gln)
c.527T>A (p.Leu176Gln)
c.32T>A (p.Leu11Gln)
n.850T>A
n.616T>A
7g.2543837G>ACA453628141BRAT1c.556C>T (p.Leu186=)
c.408C>T (p.Ala136=)
n.572C>T
n.780C>T
n.416C>T
c.553C>T (p.Leu185=)
c.526C>T (p.Leu176=)
c.31C>T (p.Leu11=)
n.849C>T
n.615C>T
 dbSNP gnomAD v2 gnomAD v4
7g.2543837G>CCA4128167BRAT1c.556C>G (p.Leu186Val)
c.408C>G (p.Ala136=)
n.572C>G
n.780C>G
n.416C>G
c.553C>G (p.Leu185Val)
c.526C>G (p.Leu176Val)
c.31C>G (p.Leu11Val)
n.849C>G
n.615C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.2543837G=CA1683201813BRAT1c.556C= (p.Leu186=)
c.408C= (p.Ala136=)
n.572C=
n.780C=
n.416C=
c.553C= (p.Leu185=)
c.526C= (p.Leu176=)
c.31C= (p.Leu11=)
n.849C=
n.615C=
7g.2543837G>TCA366632248BRAT1c.556C>A (p.Leu186Met)
c.408C>A (p.Ala136=)
n.572C>A
n.780C>A
n.416C>A
c.553C>A (p.Leu185Met)
c.526C>A (p.Leu176Met)
c.31C>A (p.Leu11Met)
n.849C>A
n.615C>A
7g.2543838G>ACA453628142BRAT1c.555C>T (p.Cys185=)
c.407C>T (p.Ala136Val)
n.571C>T
n.779C>T
n.415C>T
c.552C>T (p.Cys184=)
c.525C>T (p.Cys175=)
c.30C>T (p.Cys10=)
n.848C>T
n.614C>T
 gnomAD v3 gnomAD v4
7g.2543838G>CCA366632249BRAT1c.555C>G (p.Cys185Trp)
c.407C>G (p.Ala136Gly)
n.571C>G
n.779C>G
n.415C>G
c.552C>G (p.Cys184Trp)
c.525C>G (p.Cys175Trp)
c.30C>G (p.Cys10Trp)
n.848C>G
n.614C>G
 gnomAD v4
7g.2543838G>TCA366632250BRAT1c.555C>A (p.Cys185Ter)
c.407C>A (p.Ala136Asp)
n.571C>A
n.779C>A
n.415C>A
c.552C>A (p.Cys184Ter)
c.525C>A (p.Cys175Ter)
c.30C>A (p.Cys10Ter)
n.848C>A
n.614C>A
7g.2543839C>ACA366632251BRAT1c.554G>T (p.Cys185Phe)
c.406G>T (p.Ala136Ser)
n.570G>T
n.778G>T
n.414G>T
c.551G>T (p.Cys184Phe)
c.524G>T (p.Cys175Phe)
c.29G>T (p.Cys10Phe)
n.847G>T
n.613G>T
7g.2543839C>GCA366632252BRAT1c.554G>C (p.Cys185Ser)
c.406G>C (p.Ala136Pro)
n.570G>C
n.778G>C
n.414G>C
c.551G>C (p.Cys184Ser)
c.524G>C (p.Cys175Ser)
c.29G>C (p.Cys10Ser)
n.847G>C
n.613G>C
7g.2543839C>TCA366632253BRAT1c.554G>A (p.Cys185Tyr)
c.406G>A (p.Ala136Thr)
n.570G>A
n.778G>A
n.414G>A
c.551G>A (p.Cys184Tyr)
c.524G>A (p.Cys175Tyr)
c.29G>A (p.Cys10Tyr)
n.847G>A
n.613G>A
7g.2543840A>CCA366632254BRAT1c.553T>G (p.Cys185Gly)
c.405T>G (p.Pro135=)
n.569T>G
n.777T>G
n.413T>G
c.550T>G (p.Cys184Gly)
c.523T>G (p.Cys175Gly)
c.28T>G (p.Cys10Gly)
n.846T>G
n.612T>G
7g.2543840A>GCA366632255BRAT1c.553T>C (p.Cys185Arg)
c.405T>C (p.Pro135=)
n.569T>C
n.777T>C
n.413T>C
c.550T>C (p.Cys184Arg)
c.523T>C (p.Cys175Arg)
c.28T>C (p.Cys10Arg)
n.846T>C
n.612T>C
 gnomAD v4
7g.2543840A>TCA366632256BRAT1c.553T>A (p.Cys185Ser)
c.405T>A (p.Pro135=)
n.569T>A
n.777T>A
n.413T>A
c.550T>A (p.Cys184Ser)
c.523T>A (p.Cys175Ser)
c.28T>A (p.Cys10Ser)
n.846T>A
n.612T>A
7g.2543841G>ACA152671902BRAT1c.552C>T (p.Pro184=)
c.404C>T (p.Pro135Leu)
n.568C>T
n.776C>T
n.412C>T
c.549C>T (p.Pro183=)
c.522C>T (p.Pro174=)
c.27C>T (p.Pro9=)
n.845C>T
n.611C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.2543841G>CCA453628143BRAT1c.552C>G (p.Pro184=)
c.404C>G (p.Pro135Arg)
n.568C>G
n.776C>G
n.412C>G
c.549C>G (p.Pro183=)
c.522C>G (p.Pro174=)
c.27C>G (p.Pro9=)
n.845C>G
n.611C>G
7g.2543841G=CA1683201814BRAT1c.552C= (p.Pro184=)
c.404C= (p.Pro135=)
n.568C=
n.776C=
n.412C=
c.549C= (p.Pro183=)
c.522C= (p.Pro174=)
c.27C= (p.Pro9=)
n.845C=
n.611C=
7g.2543841G>TCA453628144BRAT1c.552C>A (p.Pro184=)
c.404C>A (p.Pro135His)
n.568C>A
n.776C>A
n.412C>A
c.549C>A (p.Pro183=)
c.522C>A (p.Pro174=)
c.27C>A (p.Pro9=)
n.845C>A
n.611C>A
7g.2543842G>ACA366632260BRAT1c.551C>T (p.Pro184Leu)
c.403C>T (p.Pro135Ser)
n.567C>T
n.775C>T
n.411C>T
c.548C>T (p.Pro183Leu)
c.521C>T (p.Pro174Leu)
c.26C>T (p.Pro9Leu)
n.844C>T
n.610C>T
7g.2543842G>CCA366632261BRAT1c.551C>G (p.Pro184Arg)
c.403C>G (p.Pro135Ala)
n.567C>G
n.775C>G
n.411C>G
c.548C>G (p.Pro183Arg)
c.521C>G (p.Pro174Arg)
c.26C>G (p.Pro9Arg)
n.844C>G
n.610C>G
7g.2543842G>TCA366632259BRAT1c.551C>A (p.Pro184His)
c.403C>A (p.Pro135Thr)
n.567C>A
n.775C>A
n.411C>A
c.548C>A (p.Pro183His)
c.521C>A (p.Pro174His)
c.26C>A (p.Pro9His)
n.844C>A
n.610C>A
7g.2543843G>ACA366632262BRAT1c.550C>T (p.Pro184Ser)
c.402C>T (p.Ser134=)
n.566C>T
n.774C>T
n.410C>T
c.547C>T (p.Pro183Ser)
c.520C>T (p.Pro174Ser)
c.25C>T (p.Pro9Ser)
n.843C>T
n.609C>T
7g.2543843G>CCA366632263BRAT1c.550C>G (p.Pro184Ala)
c.402C>G (p.Ser134Arg)
n.566C>G
n.774C>G
n.410C>G
c.547C>G (p.Pro183Ala)
c.520C>G (p.Pro174Ala)
c.25C>G (p.Pro9Ala)
n.843C>G
n.609C>G
7g.2543843G>TCA366632264BRAT1c.550C>A (p.Pro184Thr)
c.402C>A (p.Ser134Arg)
n.566C>A
n.774C>A
n.410C>A
c.547C>A (p.Pro183Thr)
c.520C>A (p.Pro174Thr)
c.25C>A (p.Pro9Thr)
n.843C>A
n.609C>A
7g.2543844C>ACA366632265BRAT1c.549G>T (p.Gln183His)
c.401G>T (p.Ser134Ile)
n.565G>T
n.773G>T
n.409G>T
c.546G>T (p.Gln182His)
c.519G>T (p.Gln173His)
c.24G>T (p.Gln8His)
n.842G>T
n.608G>T
7g.2543844C=CA1683201815BRAT1c.549G= (p.Gln183=)
c.401G= (p.Ser134=)
n.565G=
n.773G=
n.409G=
c.546G= (p.Gln182=)
c.519G= (p.Gln173=)
c.24G= (p.Gln8=)
n.842G=
n.608G=
7g.2543844C>GCA366632266BRAT1c.549G>C (p.Gln183His)
c.401G>C (p.Ser134Thr)
n.565G>C
n.773G>C
n.409G>C
c.546G>C (p.Gln182His)
c.519G>C (p.Gln173His)
c.24G>C (p.Gln8His)
n.842G>C
n.608G>C
 gnomAD v4
7g.2543844C>TCA453628145BRAT1c.549G>A (p.Gln183=)
c.401G>A (p.Ser134Asn)
n.565G>A
n.773G>A
n.409G>A
c.546G>A (p.Gln182=)
c.519G>A (p.Gln173=)
c.24G>A (p.Gln8=)
n.842G>A
n.608G>A
 dbSNP
7g.2543845T>ACA366632267BRAT1c.548A>T (p.Gln183Leu)
c.400A>T (p.Ser134Cys)
n.564A>T
n.772A>T
n.408A>T
c.545A>T (p.Gln182Leu)
c.518A>T (p.Gln173Leu)
c.23A>T (p.Gln8Leu)
n.841A>T
n.607A>T
7g.2543845T>CCA366632268BRAT1c.548A>G (p.Gln183Arg)
c.400A>G (p.Ser134Gly)
n.564A>G
n.772A>G
n.408A>G
c.545A>G (p.Gln182Arg)
c.518A>G (p.Gln173Arg)
c.23A>G (p.Gln8Arg)
n.841A>G
n.607A>G
7g.2543845T>GCA366632269BRAT1c.548A>C (p.Gln183Pro)
c.400A>C (p.Ser134Arg)
n.564A>C
n.772A>C
n.408A>C
c.545A>C (p.Gln182Pro)
c.518A>C (p.Gln173Pro)
c.23A>C (p.Gln8Pro)
n.841A>C
n.607A>C
7g.2543846G>ACA366632270BRAT1c.547C>T (p.Gln183Ter)
c.399C>T (p.Gly133=)
n.563C>T
n.771C>T
n.407C>T
c.544C>T (p.Gln182Ter)
c.517C>T (p.Gln173Ter)
c.22C>T (p.Gln8Ter)
n.840C>T
n.606C>T
7g.2543846G>CCA366632271BRAT1c.547C>G (p.Gln183Glu)
c.399C>G (p.Gly133=)
n.563C>G
n.771C>G
n.407C>G
c.544C>G (p.Gln182Glu)
c.517C>G (p.Gln173Glu)
c.22C>G (p.Gln8Glu)
n.840C>G
n.606C>G
7g.2543846G>TCA366632272BRAT1c.547C>A (p.Gln183Lys)
c.399C>A (p.Gly133=)
n.563C>A
n.771C>A
n.407C>A
c.544C>A (p.Gln182Lys)
c.517C>A (p.Gln173Lys)
c.22C>A (p.Gln8Lys)
n.840C>A
n.606C>A
7g.2543847C>ACA453628148BRAT1c.546G>T (p.Gly182=)
c.398G>T (p.Gly133Val)
n.562G>T
n.770G>T
n.406G>T
c.543G>T (p.Gly181=)
c.516G>T (p.Gly172=)
c.21G>T (p.Gly7=)
n.839G>T
n.605G>T
7g.2543847C>GCA453628149BRAT1c.546G>C (p.Gly182=)
c.398G>C (p.Gly133Ala)
n.562G>C
n.770G>C
n.406G>C
c.543G>C (p.Gly181=)
c.516G>C (p.Gly172=)
c.21G>C (p.Gly7=)
n.839G>C
n.605G>C
7g.2543847C>TCA453628150BRAT1c.546G>A (p.Gly182=)
c.398G>A (p.Gly133Asp)
n.562G>A
n.770G>A
n.406G>A
c.543G>A (p.Gly181=)
c.516G>A (p.Gly172=)
c.21G>A (p.Gly7=)
n.839G>A
n.605G>A
 dbSNP
7g.2543848C>ACA366632273BRAT1c.545G>T (p.Gly182Val)
c.397G>T (p.Gly133Cys)
n.561G>T
n.769G>T
n.405G>T
c.542G>T (p.Gly181Val)
c.515G>T (p.Gly172Val)
c.20G>T (p.Gly7Val)
n.838G>T
n.604G>T
 COSMIC
7g.2543848C=CA1683201816BRAT1c.545G= (p.Gly182=)
c.397G= (p.Gly133=)
n.561G=
n.769G=
n.405G=
c.542G= (p.Gly181=)
c.515G= (p.Gly172=)
c.20G= (p.Gly7=)
n.838G=
n.604G=
7g.2543848C>GCA4128169BRAT1c.545G>C (p.Gly182Ala)
c.397G>C (p.Gly133Arg)
n.561G>C
n.769G>C
n.405G>C
c.542G>C (p.Gly181Ala)
c.515G>C (p.Gly172Ala)
c.20G>C (p.Gly7Ala)
n.838G>C
n.604G>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.2543848C>TCA4128168BRAT1c.545G>A (p.Gly182Glu)
c.397G>A (p.Gly133Ser)
n.561G>A
n.769G>A
n.405G>A
c.542G>A (p.Gly181Glu)
c.515G>A (p.Gly172Glu)
c.20G>A (p.Gly7Glu)
n.838G>A
n.604G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.2543849C>ACA366632274BRAT1c.544G>T (p.Gly182Trp)
c.396G>T (p.Arg132Ser)
n.560G>T
n.768G>T
n.404G>T
c.541G>T (p.Gly181Trp)
c.514G>T (p.Gly172Trp)
c.19G>T (p.Gly7Trp)
n.837G>T
n.603G>T
7g.2543849C=CA1683201817BRAT1c.544G= (p.Gly182=)
c.396G= (p.Arg132=)
n.560G=
n.768G=
n.404G=
c.541G= (p.Gly181=)
c.514G= (p.Gly172=)
c.19G= (p.Gly7=)
n.837G=
n.603G=
7g.2543849C>GCA366632275BRAT1c.544G>C (p.Gly182Arg)
c.396G>C (p.Arg132Ser)
n.560G>C
n.768G>C
n.404G>C
c.541G>C (p.Gly181Arg)
c.514G>C (p.Gly172Arg)
c.19G>C (p.Gly7Arg)
n.837G>C
n.603G>C
7g.2543849C>TCA4128170BRAT1c.544G>A (p.Gly182Arg)
c.396G>A (p.Arg132=)
n.560G>A
n.768G>A
n.404G>A
c.541G>A (p.Gly181Arg)
c.514G>A (p.Gly172Arg)
c.19G>A (p.Gly7Arg)
n.837G>A
n.603G>A
 dbSNP ExAC gnomAD v2
7g.2543850C>ACA366632276BRAT1c.543G>T (p.Glu181Asp)
c.395G>T (p.Arg132Met)
n.559G>T
n.767G>T
n.403G>T
c.540G>T (p.Glu180Asp)
c.513G>T (p.Glu171Asp)
c.18G>T (p.Glu6Asp)
n.836G>T
n.602G>T
7g.2543850C=CA1683201818BRAT1c.543G= (p.Glu181=)
c.395G= (p.Arg132=)
n.559G=
n.767G=
n.403G=
c.540G= (p.Glu180=)
c.513G= (p.Glu171=)
c.18G= (p.Glu6=)
n.836G=
n.602G=
7g.2543850C>GCA366632277BRAT1c.543G>C (p.Glu181Asp)
c.395G>C (p.Arg132Thr)
n.559G>C
n.767G>C
n.403G>C
c.540G>C (p.Glu180Asp)
c.513G>C (p.Glu171Asp)
c.18G>C (p.Glu6Asp)
n.836G>C
n.602G>C
7g.2543850C>TCA453628155BRAT1c.543G>A (p.Glu181=)
c.395G>A (p.Arg132Lys)
n.559G>A
n.767G>A
n.403G>A
c.540G>A (p.Glu180=)
c.513G>A (p.Glu171=)
c.18G>A (p.Glu6=)
n.836G>A
n.602G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.2543851T>ACA366632278BRAT1c.542A>T (p.Glu181Val)
c.394A>T (p.Arg132Trp)
n.558A>T
n.766A>T
n.402A>T
c.539A>T (p.Glu180Val)
c.512A>T (p.Glu171Val)
c.17A>T (p.Glu6Val)
n.835A>T
n.601A>T
7g.2543851T>CCA366632279BRAT1c.542A>G (p.Glu181Gly)
c.394A>G (p.Arg132Gly)
n.558A>G
n.766A>G
n.402A>G
c.539A>G (p.Glu180Gly)
c.512A>G (p.Glu171Gly)
c.17A>G (p.Glu6Gly)
n.835A>G
n.601A>G
7g.2543851T>GCA366632280BRAT1c.542A>C (p.Glu181Ala)
c.394A>C (p.Arg132=)
n.558A>C
n.766A>C
n.402A>C
c.539A>C (p.Glu180Ala)
c.512A>C (p.Glu171Ala)
c.17A>C (p.Glu6Ala)
n.835A>C
n.601A>C
7g.2543852C>ACA366632281BRAT1c.541G>T (p.Glu181Ter)
c.393G>T (p.Pro131=)
n.557G>T
n.765G>T
n.401G>T
c.538G>T (p.Glu180Ter)
c.511G>T (p.Glu171Ter)
c.16G>T (p.Glu6Ter)
n.834G>T
n.600G>T
7g.2543852C=CA1683201819BRAT1c.541G= (p.Glu181=)
c.393G= (p.Pro131=)
n.557G=
n.765G=
n.401G=
c.538G= (p.Glu180=)
c.511G= (p.Glu171=)
c.16G= (p.Glu6=)
n.834G=
n.600G=
7g.2543852C>GCA366632282BRAT1c.541G>C (p.Glu181Gln)
c.393G>C (p.Pro131=)
n.557G>C
n.765G>C
n.401G>C
c.538G>C (p.Glu180Gln)
c.511G>C (p.Glu171Gln)
c.16G>C (p.Glu6Gln)
n.834G>C
n.600G>C
7g.2543852C>TCA4128171BRAT1c.541G>A (p.Glu181Lys)
c.393G>A (p.Pro131=)
n.557G>A
n.765G>A
n.401G>A
c.538G>A (p.Glu180Lys)
c.511G>A (p.Glu171Lys)
c.16G>A (p.Glu6Lys)
n.834G>A
n.600G>A
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
7g.2543853G>ACA4128172BRAT1c.540C>T (p.Ala180=)
c.392C>T (p.Pro131Leu)
n.556C>T
n.764C>T
n.400C>T
c.537C>T (p.Ala179=)
c.510C>T (p.Ala170=)
c.15C>T (p.Ala5=)
n.833C>T
n.599C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.2543853G>CCA453628157BRAT1c.540C>G (p.Ala180=)
c.392C>G (p.Pro131Arg)
n.556C>G
n.764C>G
n.400C>G
c.537C>G (p.Ala179=)
c.510C>G (p.Ala170=)
c.15C>G (p.Ala5=)
n.833C>G
n.599C>G
7g.2543853G=CA1683201820BRAT1c.540C= (p.Ala180=)
c.392C= (p.Pro131=)
n.556C=
n.764C=
n.400C=
c.537C= (p.Ala179=)
c.510C= (p.Ala170=)
c.15C= (p.Ala5=)
n.833C=
n.599C=
7g.2543853G>TCA453628158BRAT1c.540C>A (p.Ala180=)
c.392C>A (p.Pro131Gln)
n.556C>A
n.764C>A
n.400C>A
c.537C>A (p.Ala179=)
c.510C>A (p.Ala170=)
c.15C>A (p.Ala5=)
n.833C>A
n.599C>A
7g.2543854G>ACA366632285BRAT1c.539C>T (p.Ala180Val)
c.391C>T (p.Pro131Ser)
n.555C>T
n.763C>T
n.399C>T
c.536C>T (p.Ala179Val)
c.509C>T (p.Ala170Val)
c.14C>T (p.Ala5Val)
n.832C>T
n.598C>T
7g.2543854G>CCA366632284BRAT1c.539C>G (p.Ala180Gly)
c.391C>G (p.Pro131Ala)
n.555C>G
n.763C>G
n.399C>G
c.536C>G (p.Ala179Gly)
c.509C>G (p.Ala170Gly)
c.14C>G (p.Ala5Gly)
n.832C>G
n.598C>G
7g.2543854G>TCA366632283BRAT1c.539C>A (p.Ala180Asp)
c.391C>A (p.Pro131Thr)
n.555C>A
n.763C>A
n.399C>A
c.536C>A (p.Ala179Asp)
c.509C>A (p.Ala170Asp)
c.14C>A (p.Ala5Asp)
n.832C>A
n.598C>A
7g.2543855C>ACA366632286BRAT1c.538G>T (p.Ala180Ser)
c.390G>T (p.Glu130Asp)
n.554G>T
n.762G>T
n.398G>T
c.535G>T (p.Ala179Ser)
c.508G>T (p.Ala170Ser)
c.13G>T (p.Ala5Ser)
n.831G>T
n.597G>T
7g.2543855C=CA1683201821BRAT1c.538G= (p.Ala180=)
c.390G= (p.Glu130=)
n.554G=
n.762G=
n.398G=
c.535G= (p.Ala179=)
c.508G= (p.Ala170=)
c.13G= (p.Ala5=)
n.831G=
n.597G=
7g.2543855C>GCA366632287BRAT1c.538G>C (p.Ala180Pro)
c.390G>C (p.Glu130Asp)
n.554G>C
n.762G>C
n.398G>C
c.535G>C (p.Ala179Pro)
c.508G>C (p.Ala170Pro)
c.13G>C (p.Ala5Pro)
n.831G>C
n.597G>C
7g.2543855C>TCA4128173BRAT1c.538G>A (p.Ala180Thr)
c.390G>A (p.Glu130=)
n.554G>A
n.762G>A
n.398G>A
c.535G>A (p.Ala179Thr)
c.508G>A (p.Ala170Thr)
c.13G>A (p.Ala5Thr)
n.831G>A
n.597G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.2543856T>ACA453628161BRAT1c.537A>T (p.Gly179=)
c.389A>T (p.Glu130Val)
n.553A>T
n.761A>T
n.397A>T
c.534A>T (p.Gly178=)
c.507A>T (p.Gly169=)
c.12A>T (p.Gly4=)
n.830A>T
n.596A>T
7g.2543856T>CCA152671928BRAT1c.537A>G (p.Gly179=)
c.389A>G (p.Glu130Gly)
n.553A>G
n.761A>G
n.397A>G
c.534A>G (p.Gly178=)
c.507A>G (p.Gly169=)
c.12A>G (p.Gly4=)
n.830A>G
n.596A>G
 dbSNP gnomAD v3 gnomAD v4
7g.2543856T>GCA453628162BRAT1c.537A>C (p.Gly179=)
c.389A>C (p.Glu130Ala)
n.553A>C
n.761A>C
n.397A>C
c.534A>C (p.Gly178=)
c.507A>C (p.Gly169=)
c.12A>C (p.Gly4=)
n.830A>C
n.596A>C
7g.2543856T=CA1683201822BRAT1c.537A= (p.Gly179=)
c.389A= (p.Glu130=)
n.553A=
n.761A=
n.397A=
c.534A= (p.Gly178=)
c.507A= (p.Gly169=)
c.12A= (p.Gly4=)
n.830A=
n.596A=
7g.2543857C>ACA366632288BRAT1c.536G>T (p.Gly179Val)
c.388G>T (p.Glu130Ter)
n.552G>T
n.760G>T
n.396G>T
c.533G>T (p.Gly178Val)
c.506G>T (p.Gly169Val)
c.11G>T (p.Gly4Val)
n.829G>T
n.595G>T
7g.2543857C>GCA366632289BRAT1c.536G>C (p.Gly179Ala)
c.388G>C (p.Glu130Gln)
n.552G>C
n.760G>C
n.396G>C
c.533G>C (p.Gly178Ala)
c.506G>C (p.Gly169Ala)
c.11G>C (p.Gly4Ala)
n.829G>C
n.595G>C
7g.2543857C>TCA366632290BRAT1c.536G>A (p.Gly179Glu)
c.388G>A (p.Glu130Lys)
n.552G>A
n.760G>A
n.396G>A
c.533G>A (p.Gly178Glu)
c.506G>A (p.Gly169Glu)
c.11G>A (p.Gly4Glu)
n.829G>A
n.595G>A

Number of alleles fetched