Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.128810651A>CCA383238858FLI1c.1043A>C (p.Tyr348Ser)
c.1022A>C (p.Tyr341Ser)
c.824A>C (p.Tyr275Ser)
c.443A>C (p.Tyr148Ser)
c.*944A>C (n.*944A>C)
n.3605A>C
c.923A>C (p.Tyr308Ser)
c.*414A>C (n.*414A>C)
c.896A>C (p.Tyr299Ser)
11g.128810651A>GCA383238859FLI1c.1043A>G (p.Tyr348Cys)
c.1022A>G (p.Tyr341Cys)
c.824A>G (p.Tyr275Cys)
c.443A>G (p.Tyr148Cys)
c.*944A>G (n.*944A>G)
n.3605A>G
c.923A>G (p.Tyr308Cys)
c.*414A>G (n.*414A>G)
c.896A>G (p.Tyr299Cys)
11g.128810651A>TCA383238860FLI1c.1043A>T (p.Tyr348Phe)
c.1022A>T (p.Tyr341Phe)
c.824A>T (p.Tyr275Phe)
c.443A>T (p.Tyr148Phe)
c.*944A>T (n.*944A>T)
n.3605A>T
c.923A>T (p.Tyr308Phe)
c.*414A>T (n.*414A>T)
c.896A>T (p.Tyr299Phe)
11g.128810652T>ACA383238861FLI1c.1044T>A (p.Tyr348Ter)
c.1023T>A (p.Tyr341Ter)
c.825T>A (p.Tyr275Ter)
c.444T>A (p.Tyr148Ter)
c.*945T>A (n.*945T>A)
n.3606T>A
c.924T>A (p.Tyr308Ter)
c.*415T>A (n.*415T>A)
c.897T>A (p.Tyr299Ter)
11g.128810652T>CCA477702623FLI1c.1044T>C (p.Tyr348=)
c.1023T>C (p.Tyr341=)
c.825T>C (p.Tyr275=)
c.444T>C (p.Tyr148=)
c.*945T>C (n.*945T>C)
n.3606T>C
c.924T>C (p.Tyr308=)
c.*415T>C (n.*415T>C)
c.897T>C (p.Tyr299=)
11g.128810652T>GCA383238862FLI1c.1044T>G (p.Tyr348Ter)
c.1023T>G (p.Tyr341Ter)
c.825T>G (p.Tyr275Ter)
c.444T>G (p.Tyr148Ter)
c.*945T>G (n.*945T>G)
n.3606T>G
c.924T>G (p.Tyr308Ter)
c.*415T>G (n.*415T>G)
c.897T>G (p.Tyr299Ter)
11g.128810653T>ACA383238863FLI1c.1045T>A (p.Tyr349Asn)
c.1024T>A (p.Tyr342Asn)
c.826T>A (p.Tyr276Asn)
c.445T>A (p.Tyr149Asn)
c.*946T>A (n.*946T>A)
n.3607T>A
c.925T>A (p.Tyr309Asn)
c.*416T>A (n.*416T>A)
c.898T>A (p.Tyr300Asn)
11g.128810653T>CCA383238864FLI1c.1045T>C (p.Tyr349His)
c.1024T>C (p.Tyr342His)
c.826T>C (p.Tyr276His)
c.445T>C (p.Tyr149His)
c.*946T>C (n.*946T>C)
n.3607T>C
c.925T>C (p.Tyr309His)
c.*416T>C (n.*416T>C)
c.898T>C (p.Tyr300His)
11g.128810653T>GCA383238865FLI1c.1045T>G (p.Tyr349Asp)
c.1024T>G (p.Tyr342Asp)
c.826T>G (p.Tyr276Asp)
c.445T>G (p.Tyr149Asp)
c.*946T>G (n.*946T>G)
n.3607T>G
c.925T>G (p.Tyr309Asp)
c.*416T>G (n.*416T>G)
c.898T>G (p.Tyr300Asp)
11g.128810654A>CCA383238867FLI1c.1046A>C (p.Tyr349Ser)
c.1025A>C (p.Tyr342Ser)
c.827A>C (p.Tyr276Ser)
c.446A>C (p.Tyr149Ser)
c.*947A>C (n.*947A>C)
n.3608A>C
c.926A>C (p.Tyr309Ser)
c.*417A>C (n.*417A>C)
c.899A>C (p.Tyr300Ser)
11g.128810654A>GCA383238868FLI1c.1046A>G (p.Tyr349Cys)
c.1025A>G (p.Tyr342Cys)
c.827A>G (p.Tyr276Cys)
c.446A>G (p.Tyr149Cys)
c.*947A>G (n.*947A>G)
n.3608A>G
c.926A>G (p.Tyr309Cys)
c.*417A>G (n.*417A>G)
c.899A>G (p.Tyr300Cys)
11g.128810654A>TCA383238866FLI1c.1046A>T (p.Tyr349Phe)
c.1025A>T (p.Tyr342Phe)
c.827A>T (p.Tyr276Phe)
c.446A>T (p.Tyr149Phe)
c.*947A>T (n.*947A>T)
n.3608A>T
c.926A>T (p.Tyr309Phe)
c.*417A>T (n.*417A>T)
c.899A>T (p.Tyr300Phe)
11g.128810655C>ACA383238869FLI1c.1047C>A (p.Tyr349Ter)
c.1026C>A (p.Tyr342Ter)
c.828C>A (p.Tyr276Ter)
c.447C>A (p.Tyr149Ter)
c.*948C>A (n.*948C>A)
n.3609C>A
c.927C>A (p.Tyr309Ter)
c.*418C>A (n.*418C>A)
c.900C>A (p.Tyr300Ter)
11g.128810655C>GCA383238870FLI1c.1047C>G (p.Tyr349Ter)
c.1026C>G (p.Tyr342Ter)
c.828C>G (p.Tyr276Ter)
c.447C>G (p.Tyr149Ter)
c.*948C>G (n.*948C>G)
n.3609C>G
c.927C>G (p.Tyr309Ter)
c.*418C>G (n.*418C>G)
c.900C>G (p.Tyr300Ter)
11g.128810655C>TCA477702624FLI1c.1047C>T (p.Tyr349=)
c.1026C>T (p.Tyr342=)
c.828C>T (p.Tyr276=)
c.447C>T (p.Tyr149=)
c.*948C>T (n.*948C>T)
n.3609C>T
c.927C>T (p.Tyr309=)
c.*418C>T (n.*418C>T)
c.900C>T (p.Tyr300=)
11g.128810656T>ACA383238871FLI1c.1048T>A (p.Tyr350Asn)
c.1027T>A (p.Tyr343Asn)
c.829T>A (p.Tyr277Asn)
c.448T>A (p.Tyr150Asn)
c.*949T>A (n.*949T>A)
n.3610T>A
c.928T>A (p.Tyr310Asn)
c.*419T>A (n.*419T>A)
c.901T>A (p.Tyr301Asn)
11g.128810656T>CCA383238872FLI1c.1048T>C (p.Tyr350His)
c.1027T>C (p.Tyr343His)
c.829T>C (p.Tyr277His)
c.448T>C (p.Tyr150His)
c.*949T>C (n.*949T>C)
n.3610T>C
c.928T>C (p.Tyr310His)
c.*419T>C (n.*419T>C)
c.901T>C (p.Tyr301His)
11g.128810656T>GCA383238873FLI1c.1048T>G (p.Tyr350Asp)
c.1027T>G (p.Tyr343Asp)
c.829T>G (p.Tyr277Asp)
c.448T>G (p.Tyr150Asp)
c.*949T>G (n.*949T>G)
n.3610T>G
c.928T>G (p.Tyr310Asp)
c.*419T>G (n.*419T>G)
c.901T>G (p.Tyr301Asp)
11g.128810657A=CA2008248433FLI1c.1049A= (p.Tyr350=)
c.1028A= (p.Tyr343=)
c.830A= (p.Tyr277=)
c.449A= (p.Tyr150=)
c.*950A= (n.*950A=)
n.3611A=
c.929A= (p.Tyr310=)
c.*420A= (n.*420A=)
c.902A= (p.Tyr301=)
11g.128810657A>CCA383238874FLI1c.1049A>C (p.Tyr350Ser)
c.1028A>C (p.Tyr343Ser)
c.830A>C (p.Tyr277Ser)
c.449A>C (p.Tyr150Ser)
c.*950A>C (n.*950A>C)
n.3611A>C
c.929A>C (p.Tyr310Ser)
c.*420A>C (n.*420A>C)
c.902A>C (p.Tyr301Ser)
11g.128810657A>GCA16621534FLI1c.1049A>G (p.Tyr350Cys)
c.1028A>G (p.Tyr343Cys)
c.830A>G (p.Tyr277Cys)
c.449A>G (p.Tyr150Cys)
c.*950A>G (n.*950A>G)
n.3611A>G
c.929A>G (p.Tyr310Cys)
c.*420A>G (n.*420A>G)
c.902A>G (p.Tyr301Cys)
ClinVar dbSNP
11g.128810657A>TCA383238875FLI1c.1049A>T (p.Tyr350Phe)
c.1028A>T (p.Tyr343Phe)
c.830A>T (p.Tyr277Phe)
c.449A>T (p.Tyr150Phe)
c.*950A>T (n.*950A>T)
n.3611A>T
c.929A>T (p.Tyr310Phe)
c.*420A>T (n.*420A>T)
c.902A>T (p.Tyr301Phe)
11g.128810658T>ACA383238876FLI1c.1050T>A (p.Tyr350Ter)
c.1029T>A (p.Tyr343Ter)
c.831T>A (p.Tyr277Ter)
c.450T>A (p.Tyr150Ter)
c.*951T>A (n.*951T>A)
n.3612T>A
c.930T>A (p.Tyr310Ter)
c.*421T>A (n.*421T>A)
c.903T>A (p.Tyr301Ter)
11g.128810658T>CCA477702625FLI1c.1050T>C (p.Tyr350=)
c.1029T>C (p.Tyr343=)
c.831T>C (p.Tyr277=)
c.450T>C (p.Tyr150=)
c.*951T>C (n.*951T>C)
n.3612T>C
c.930T>C (p.Tyr310=)
c.*421T>C (n.*421T>C)
c.903T>C (p.Tyr301=)
dbSNP gnomAD v4
11g.128810658T>GCA383238877FLI1c.1050T>G (p.Tyr350Ter)
c.1029T>G (p.Tyr343Ter)
c.831T>G (p.Tyr277Ter)
c.450T>G (p.Tyr150Ter)
c.*951T>G (n.*951T>G)
n.3612T>G
c.930T>G (p.Tyr310Ter)
c.*421T>G (n.*421T>G)
c.903T>G (p.Tyr301Ter)
11g.128810658T=CA2008248441FLI1c.1050T= (p.Tyr350=)
c.1029T= (p.Tyr343=)
c.831T= (p.Tyr277=)
c.450T= (p.Tyr150=)
c.*951T= (n.*951T=)
n.3612T=
c.930T= (p.Tyr310=)
c.*421T= (n.*421T=)
c.903T= (p.Tyr301=)
11g.128810659G>ACA383238878FLI1c.1051G>A (p.Asp351Asn)
c.1030G>A (p.Asp344Asn)
c.832G>A (p.Asp278Asn)
c.451G>A (p.Asp151Asn)
c.*952G>A (n.*952G>A)
n.3613G>A
c.931G>A (p.Asp311Asn)
c.*422G>A (n.*422G>A)
c.904G>A (p.Asp302Asn)
gnomAD v4
11g.128810659G>CCA383238879FLI1c.1051G>C (p.Asp351His)
c.1030G>C (p.Asp344His)
c.832G>C (p.Asp278His)
c.451G>C (p.Asp151His)
c.*952G>C (n.*952G>C)
n.3613G>C
c.931G>C (p.Asp311His)
c.*422G>C (n.*422G>C)
c.904G>C (p.Asp302His)
11g.128810659G>TCA383238880FLI1c.1051G>T (p.Asp351Tyr)
c.1030G>T (p.Asp344Tyr)
c.832G>T (p.Asp278Tyr)
c.451G>T (p.Asp151Tyr)
c.*952G>T (n.*952G>T)
n.3613G>T
c.931G>T (p.Asp311Tyr)
c.*422G>T (n.*422G>T)
c.904G>T (p.Asp302Tyr)
11g.128810660A>CCA383238883FLI1c.1052A>C (p.Asp351Ala)
c.1031A>C (p.Asp344Ala)
c.833A>C (p.Asp278Ala)
c.452A>C (p.Asp151Ala)
c.*953A>C (n.*953A>C)
n.3614A>C
c.932A>C (p.Asp311Ala)
c.*423A>C (n.*423A>C)
c.905A>C (p.Asp302Ala)
11g.128810660A>GCA383238882FLI1c.1052A>G (p.Asp351Gly)
c.1031A>G (p.Asp344Gly)
c.833A>G (p.Asp278Gly)
c.452A>G (p.Asp151Gly)
c.*953A>G (n.*953A>G)
n.3614A>G
c.932A>G (p.Asp311Gly)
c.*423A>G (n.*423A>G)
c.905A>G (p.Asp302Gly)
11g.128810660A>TCA383238881FLI1c.1052A>T (p.Asp351Val)
c.1031A>T (p.Asp344Val)
c.833A>T (p.Asp278Val)
c.452A>T (p.Asp151Val)
c.*953A>T (n.*953A>T)
n.3614A>T
c.932A>T (p.Asp311Val)
c.*423A>T (n.*423A>T)
c.905A>T (p.Asp302Val)
11g.128810661T>ACA383238884FLI1c.1053T>A (p.Asp351Glu)
c.1032T>A (p.Asp344Glu)
c.834T>A (p.Asp278Glu)
c.453T>A (p.Asp151Glu)
c.*954T>A (n.*954T>A)
n.3615T>A
c.933T>A (p.Asp311Glu)
c.*424T>A (n.*424T>A)
c.906T>A (p.Asp302Glu)
11g.128810661T>CCA477702626FLI1c.1053T>C (p.Asp351=)
c.1032T>C (p.Asp344=)
c.834T>C (p.Asp278=)
c.453T>C (p.Asp151=)
c.*954T>C (n.*954T>C)
n.3615T>C
c.933T>C (p.Asp311=)
c.*424T>C (n.*424T>C)
c.906T>C (p.Asp302=)
11g.128810661T>GCA383238885FLI1c.1053T>G (p.Asp351Glu)
c.1032T>G (p.Asp344Glu)
c.834T>G (p.Asp278Glu)
c.453T>G (p.Asp151Glu)
c.*954T>G (n.*954T>G)
n.3615T>G
c.933T>G (p.Asp311Glu)
c.*424T>G (n.*424T>G)
c.906T>G (p.Asp302Glu)
11g.128810662A=CA2008248448FLI1c.1054A= (p.Lys352=)
c.1033A= (p.Lys345=)
c.835A= (p.Lys279=)
c.454A= (p.Lys152=)
c.*955A= (n.*955A=)
n.3616A=
c.934A= (p.Lys312=)
c.*425A= (n.*425A=)
c.907A= (p.Lys303=)
11g.128810662A>CCA383238886FLI1c.1054A>C (p.Lys352Gln)
c.1033A>C (p.Lys345Gln)
c.835A>C (p.Lys279Gln)
c.454A>C (p.Lys152Gln)
c.*955A>C (n.*955A>C)
n.3616A>C
c.934A>C (p.Lys312Gln)
c.*425A>C (n.*425A>C)
c.907A>C (p.Lys303Gln)
11g.128810662A>GCA16621537FLI1c.1054A>G (p.Lys352Glu)
c.1033A>G (p.Lys345Glu)
c.835A>G (p.Lys279Glu)
c.454A>G (p.Lys152Glu)
c.*955A>G (n.*955A>G)
n.3616A>G
c.934A>G (p.Lys312Glu)
c.*425A>G (n.*425A>G)
c.907A>G (p.Lys303Glu)
ClinVar dbSNP
11g.128810662A>TCA383238887FLI1c.1054A>T (p.Lys352Ter)
c.1033A>T (p.Lys345Ter)
c.835A>T (p.Lys279Ter)
c.454A>T (p.Lys152Ter)
c.*955A>T (n.*955A>T)
n.3616A>T
c.934A>T (p.Lys312Ter)
c.*425A>T (n.*425A>T)
c.907A>T (p.Lys303Ter)
11g.128810663A>CCA383238888FLI1c.1055A>C (p.Lys352Thr)
c.1034A>C (p.Lys345Thr)
c.836A>C (p.Lys279Thr)
c.455A>C (p.Lys152Thr)
c.*956A>C (n.*956A>C)
n.3617A>C
c.935A>C (p.Lys312Thr)
c.*426A>C (n.*426A>C)
c.908A>C (p.Lys303Thr)
11g.128810663A>GCA383238889FLI1c.1055A>G (p.Lys352Arg)
c.1034A>G (p.Lys345Arg)
c.836A>G (p.Lys279Arg)
c.455A>G (p.Lys152Arg)
c.*956A>G (n.*956A>G)
n.3617A>G
c.935A>G (p.Lys312Arg)
c.*426A>G (n.*426A>G)
c.908A>G (p.Lys303Arg)
11g.128810663A>TCA383238890FLI1c.1055A>T (p.Lys352Ile)
c.1034A>T (p.Lys345Ile)
c.836A>T (p.Lys279Ile)
c.455A>T (p.Lys152Ile)
c.*956A>T (n.*956A>T)
n.3617A>T
c.935A>T (p.Lys312Ile)
c.*426A>T (n.*426A>T)
c.908A>T (p.Lys303Ile)
11g.128810664A=CA2008248449FLI1c.1056A= (p.Lys352=)
c.1035A= (p.Lys345=)
c.837A= (p.Lys279=)
c.456A= (p.Lys152=)
c.*957A= (n.*957A=)
n.3618A=
c.936A= (p.Lys312=)
c.*427A= (n.*427A=)
c.909A= (p.Lys303=)
11g.128810664A>CCA383238891FLI1c.1056A>C (p.Lys352Asn)
c.1035A>C (p.Lys345Asn)
c.837A>C (p.Lys279Asn)
c.456A>C (p.Lys152Asn)
c.*957A>C (n.*957A>C)
n.3618A>C
c.936A>C (p.Lys312Asn)
c.*427A>C (n.*427A>C)
c.909A>C (p.Lys303Asn)
11g.128810664A>GCA477702627FLI1c.1056A>G (p.Lys352=)
c.1035A>G (p.Lys345=)
c.837A>G (p.Lys279=)
c.456A>G (p.Lys152=)
c.*957A>G (n.*957A>G)
n.3618A>G
c.936A>G (p.Lys312=)
c.*427A>G (n.*427A>G)
c.909A>G (p.Lys303=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.128810664A>TCA383238892FLI1c.1056A>T (p.Lys352Asn)
c.1035A>T (p.Lys345Asn)
c.837A>T (p.Lys279Asn)
c.456A>T (p.Lys152Asn)
c.*957A>T (n.*957A>T)
n.3618A>T
c.936A>T (p.Lys312Asn)
c.*427A>T (n.*427A>T)
c.909A>T (p.Lys303Asn)
11g.128810665A>CCA383238893FLI1c.1057A>C (p.Asn353His)
c.1036A>C (p.Asn346His)
c.838A>C (p.Asn280His)
c.457A>C (p.Asn153His)
c.*958A>C (n.*958A>C)
n.3619A>C
c.937A>C (p.Asn313His)
c.*428A>C (n.*428A>C)
c.910A>C (p.Asn304His)
11g.128810665A>GCA383238894FLI1c.1057A>G (p.Asn353Asp)
c.1036A>G (p.Asn346Asp)
c.838A>G (p.Asn280Asp)
c.457A>G (p.Asn153Asp)
c.*958A>G (n.*958A>G)
n.3619A>G
c.937A>G (p.Asn313Asp)
c.*428A>G (n.*428A>G)
c.910A>G (p.Asn304Asp)
11g.128810665A>TCA383238895FLI1c.1057A>T (p.Asn353Tyr)
c.1036A>T (p.Asn346Tyr)
c.838A>T (p.Asn280Tyr)
c.457A>T (p.Asn153Tyr)
c.*958A>T (n.*958A>T)
n.3619A>T
c.937A>T (p.Asn313Tyr)
c.*428A>T (n.*428A>T)
c.910A>T (p.Asn304Tyr)
11g.128810666A>CCA383238896FLI1c.1058A>C (p.Asn353Thr)
c.1037A>C (p.Asn346Thr)
c.839A>C (p.Asn280Thr)
c.458A>C (p.Asn153Thr)
c.*959A>C (n.*959A>C)
n.3620A>C
c.938A>C (p.Asn313Thr)
c.*429A>C (n.*429A>C)
c.911A>C (p.Asn304Thr)
11g.128810666A>GCA383238898FLI1c.1058A>G (p.Asn353Ser)
c.1037A>G (p.Asn346Ser)
c.839A>G (p.Asn280Ser)
c.458A>G (p.Asn153Ser)
c.*959A>G (n.*959A>G)
n.3620A>G
c.938A>G (p.Asn313Ser)
c.*429A>G (n.*429A>G)
c.911A>G (p.Asn304Ser)
11g.128810666A>TCA383238897FLI1c.1058A>T (p.Asn353Ile)
c.1037A>T (p.Asn346Ile)
c.839A>T (p.Asn280Ile)
c.458A>T (p.Asn153Ile)
c.*959A>T (n.*959A>T)
n.3620A>T
c.938A>T (p.Asn313Ile)
c.*429A>T (n.*429A>T)
c.911A>T (p.Asn304Ile)
11g.128810667C>ACA383238899FLI1c.1059C>A (p.Asn353Lys)
c.1038C>A (p.Asn346Lys)
c.840C>A (p.Asn280Lys)
c.459C>A (p.Asn153Lys)
c.*960C>A (n.*960C>A)
n.3621C>A
c.939C>A (p.Asn313Lys)
c.*430C>A (n.*430C>A)
c.912C>A (p.Asn304Lys)
11g.128810667C>GCA383238900FLI1c.1059C>G (p.Asn353Lys)
c.1038C>G (p.Asn346Lys)
c.840C>G (p.Asn280Lys)
c.459C>G (p.Asn153Lys)
c.*960C>G (n.*960C>G)
n.3621C>G
c.939C>G (p.Asn313Lys)
c.*430C>G (n.*430C>G)
c.912C>G (p.Asn304Lys)
11g.128810667C>TCA477702628FLI1c.1059C>T (p.Asn353=)
c.1038C>T (p.Asn346=)
c.840C>T (p.Asn280=)
c.459C>T (p.Asn153=)
c.*960C>T (n.*960C>T)
n.3621C>T
c.939C>T (p.Asn313=)
c.*430C>T (n.*430C>T)
c.912C>T (p.Asn304=)
11g.128810667_128810670delinsCATTCA2008248451FLI1c.1059_1062delinsCATT (p.Asn353=)
c.1038_1041delinsCATT (p.Asn346=)
c.840_843delinsCATT (p.Asn280=)
c.459_462delinsCATT (p.Asn153=)
c.*960_*963delinsCATT (n.*960_*963delinsCATT)
n.3621_3624delinsCATT
c.939_942delinsCATT (p.Asn313=)
c.*430_*433delinsCATT (n.*430_*433delinsCATT)
c.912_915delinsCATT (p.Asn304=)
11g.128810668A=CA2008248454FLI1c.1060A= (p.Ile354=)
c.1039A= (p.Ile347=)
c.841A= (p.Ile281=)
c.460A= (p.Ile154=)
c.*961A= (n.*961A=)
n.3622A=
c.940A= (p.Ile314=)
c.*431A= (n.*431A=)
c.913A= (p.Ile305=)
11g.128810668A>CCA383238901FLI1c.1060A>C (p.Ile354Leu)
c.1039A>C (p.Ile347Leu)
c.841A>C (p.Ile281Leu)
c.460A>C (p.Ile154Leu)
c.*961A>C (n.*961A>C)
n.3622A>C
c.940A>C (p.Ile314Leu)
c.*431A>C (n.*431A>C)
c.913A>C (p.Ile305Leu)
11g.128810668A>GCA383238903FLI1c.1060A>G (p.Ile354Val)
c.1039A>G (p.Ile347Val)
c.841A>G (p.Ile281Val)
c.460A>G (p.Ile154Val)
c.*961A>G (n.*961A>G)
n.3622A>G
c.940A>G (p.Ile314Val)
c.*431A>G (n.*431A>G)
c.913A>G (p.Ile305Val)
gnomAD v4
11g.128810668A>TCA383238902FLI1c.1060A>T (p.Ile354Phe)
c.1039A>T (p.Ile347Phe)
c.841A>T (p.Ile281Phe)
c.460A>T (p.Ile154Phe)
c.*961A>T (n.*961A>T)
n.3622A>T
c.940A>T (p.Ile314Phe)
c.*431A>T (n.*431A>T)
c.913A>T (p.Ile305Phe)
dbSNP gnomAD v2 gnomAD v4
11g.128810670_128810672delCA602585818FLI1c.1062_1064del (p.Ile354del)
c.1041_1043del (p.Ile347del)
c.843_845del (p.Ile281del)
c.462_464del (p.Ile154del)
c.*963_*965del (n.*963_*965del)
n.3624_3626del
c.942_944del (p.Ile314del)
c.*433_*435del (n.*433_*435del)
c.915_917del (p.Ile305del)
dbSNP gnomAD v2
11g.128810669T>ACA383238904FLI1c.1061T>A (p.Ile354Asn)
c.1040T>A (p.Ile347Asn)
c.842T>A (p.Ile281Asn)
c.461T>A (p.Ile154Asn)
c.*962T>A (n.*962T>A)
n.3623T>A
c.941T>A (p.Ile314Asn)
c.*432T>A (n.*432T>A)
c.914T>A (p.Ile305Asn)
11g.128810669T>CCA383238905FLI1c.1061T>C (p.Ile354Thr)
c.1040T>C (p.Ile347Thr)
c.842T>C (p.Ile281Thr)
c.461T>C (p.Ile154Thr)
c.*962T>C (n.*962T>C)
n.3623T>C
c.941T>C (p.Ile314Thr)
c.*432T>C (n.*432T>C)
c.914T>C (p.Ile305Thr)
11g.128810669T>GCA383238906FLI1c.1061T>G (p.Ile354Ser)
c.1040T>G (p.Ile347Ser)
c.842T>G (p.Ile281Ser)
c.461T>G (p.Ile154Ser)
c.*962T>G (n.*962T>G)
n.3623T>G
c.941T>G (p.Ile314Ser)
c.*432T>G (n.*432T>G)
c.914T>G (p.Ile305Ser)
11g.128810670T>ACA477702629FLI1c.1062T>A (p.Ile354=)
c.1041T>A (p.Ile347=)
c.843T>A (p.Ile281=)
c.462T>A (p.Ile154=)
c.*963T>A (n.*963T>A)
n.3624T>A
c.942T>A (p.Ile314=)
c.*433T>A (n.*433T>A)
c.915T>A (p.Ile305=)
11g.128810670T>CCA6357302FLI1c.1062T>C (p.Ile354=)
c.1041T>C (p.Ile347=)
c.843T>C (p.Ile281=)
c.462T>C (p.Ile154=)
c.*963T>C (n.*963T>C)
n.3624T>C
c.942T>C (p.Ile314=)
c.*433T>C (n.*433T>C)
c.915T>C (p.Ile305=)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.128810670T>GCA383238907FLI1c.1062T>G (p.Ile354Met)
c.1041T>G (p.Ile347Met)
c.843T>G (p.Ile281Met)
c.462T>G (p.Ile154Met)
c.*963T>G (n.*963T>G)
n.3624T>G
c.942T>G (p.Ile314Met)
c.*433T>G (n.*433T>G)
c.915T>G (p.Ile305Met)
11g.128810670T=CA2008248460FLI1c.1062T= (p.Ile354=)
c.1041T= (p.Ile347=)
c.843T= (p.Ile281=)
c.462T= (p.Ile154=)
c.*963T= (n.*963T=)
n.3624T=
c.942T= (p.Ile314=)
c.*433T= (n.*433T=)
c.915T= (p.Ile305=)
11g.128810671A>CCA383238908FLI1c.1063A>C (p.Met355Leu)
c.1042A>C (p.Met348Leu)
c.844A>C (p.Met282Leu)
c.463A>C (p.Met155Leu)
c.*964A>C (n.*964A>C)
n.3625A>C
c.943A>C (p.Met315Leu)
c.*434A>C (n.*434A>C)
c.916A>C (p.Met306Leu)
11g.128810671A>GCA383238909FLI1c.1063A>G (p.Met355Val)
c.1042A>G (p.Met348Val)
c.844A>G (p.Met282Val)
c.463A>G (p.Met155Val)
c.*964A>G (n.*964A>G)
n.3625A>G
c.943A>G (p.Met315Val)
c.*434A>G (n.*434A>G)
c.916A>G (p.Met306Val)
11g.128810671A>TCA383238910FLI1c.1063A>T (p.Met355Leu)
c.1042A>T (p.Met348Leu)
c.844A>T (p.Met282Leu)
c.463A>T (p.Met155Leu)
c.*964A>T (n.*964A>T)
n.3625A>T
c.943A>T (p.Met315Leu)
c.*434A>T (n.*434A>T)
c.916A>T (p.Met306Leu)
11g.128810672T>ACA383238911FLI1c.1064T>A (p.Met355Lys)
c.1043T>A (p.Met348Lys)
c.845T>A (p.Met282Lys)
c.464T>A (p.Met155Lys)
c.*965T>A (n.*965T>A)
n.3626T>A
c.944T>A (p.Met315Lys)
c.*435T>A (n.*435T>A)
c.917T>A (p.Met306Lys)
11g.128810672T>CCA383238912FLI1c.1064T>C (p.Met355Thr)
c.1043T>C (p.Met348Thr)
c.845T>C (p.Met282Thr)
c.464T>C (p.Met155Thr)
c.*965T>C (n.*965T>C)
n.3626T>C
c.944T>C (p.Met315Thr)
c.*435T>C (n.*435T>C)
c.917T>C (p.Met306Thr)
dbSNP gnomAD v3 gnomAD v4
11g.128810672T>GCA383238913FLI1c.1064T>G (p.Met355Arg)
c.1043T>G (p.Met348Arg)
c.845T>G (p.Met282Arg)
c.464T>G (p.Met155Arg)
c.*965T>G (n.*965T>G)
n.3626T>G
c.944T>G (p.Met315Arg)
c.*435T>G (n.*435T>G)
c.917T>G (p.Met306Arg)
11g.128810672T=CA2008248462FLI1c.1064T= (p.Met355=)
c.1043T= (p.Met348=)
c.845T= (p.Met282=)
c.464T= (p.Met155=)
c.*965T= (n.*965T=)
n.3626T=
c.944T= (p.Met315=)
c.*435T= (n.*435T=)
c.917T= (p.Met306=)
11g.128810673G>ACA383238916FLI1c.1065G>A (p.Met355Ile)
c.1044G>A (p.Met348Ile)
c.846G>A (p.Met282Ile)
c.465G>A (p.Met155Ile)
c.*966G>A (n.*966G>A)
n.3627G>A
c.945G>A (p.Met315Ile)
c.*436G>A (n.*436G>A)
c.918G>A (p.Met306Ile)
11g.128810673G>CCA383238915FLI1c.1065G>C (p.Met355Ile)
c.1044G>C (p.Met348Ile)
c.846G>C (p.Met282Ile)
c.465G>C (p.Met155Ile)
c.*966G>C (n.*966G>C)
n.3627G>C
c.945G>C (p.Met315Ile)
c.*436G>C (n.*436G>C)
c.918G>C (p.Met306Ile)
11g.128810673G>TCA383238914FLI1c.1065G>T (p.Met355Ile)
c.1044G>T (p.Met348Ile)
c.846G>T (p.Met282Ile)
c.465G>T (p.Met155Ile)
c.*966G>T (n.*966G>T)
n.3627G>T
c.945G>T (p.Met315Ile)
c.*436G>T (n.*436G>T)
c.918G>T (p.Met306Ile)
11g.128810674A>CCA383238917FLI1c.1066A>C (p.Thr356Pro)
c.1045A>C (p.Thr349Pro)
c.847A>C (p.Thr283Pro)
c.466A>C (p.Thr156Pro)
c.*967A>C (n.*967A>C)
n.3628A>C
c.946A>C (p.Thr316Pro)
c.*437A>C (n.*437A>C)
c.919A>C (p.Thr307Pro)
11g.128810674A>GCA383238918FLI1c.1066A>G (p.Thr356Ala)
c.1045A>G (p.Thr349Ala)
c.847A>G (p.Thr283Ala)
c.466A>G (p.Thr156Ala)
c.*967A>G (n.*967A>G)
n.3628A>G
c.946A>G (p.Thr316Ala)
c.*437A>G (n.*437A>G)
c.919A>G (p.Thr307Ala)
11g.128810674A>TCA383238919FLI1c.1066A>T (p.Thr356Ser)
c.1045A>T (p.Thr349Ser)
c.847A>T (p.Thr283Ser)
c.466A>T (p.Thr156Ser)
c.*967A>T (n.*967A>T)
n.3628A>T
c.946A>T (p.Thr316Ser)
c.*437A>T (n.*437A>T)
c.919A>T (p.Thr307Ser)
11g.128810675C>ACA383238920FLI1c.1067C>A (p.Thr356Asn)
c.1046C>A (p.Thr349Asn)
c.848C>A (p.Thr283Asn)
c.467C>A (p.Thr156Asn)
c.*968C>A (n.*968C>A)
n.3629C>A
c.947C>A (p.Thr316Asn)
c.*438C>A (n.*438C>A)
c.920C>A (p.Thr307Asn)
11g.128810675C=CA2008248466FLI1c.1067C= (p.Thr356=)
c.1046C= (p.Thr349=)
c.848C= (p.Thr283=)
c.467C= (p.Thr156=)
c.*968C= (n.*968C=)
n.3629C=
c.947C= (p.Thr316=)
c.*438C= (n.*438C=)
c.920C= (p.Thr307=)
11g.128810675C>GCA383238921FLI1c.1067C>G (p.Thr356Ser)
c.1046C>G (p.Thr349Ser)
c.848C>G (p.Thr283Ser)
c.467C>G (p.Thr156Ser)
c.*968C>G (n.*968C>G)
n.3629C>G
c.947C>G (p.Thr316Ser)
c.*438C>G (n.*438C>G)
c.920C>G (p.Thr307Ser)
11g.128810675C>TCA383238922FLI1c.1067C>T (p.Thr356Ile)
c.1046C>T (p.Thr349Ile)
c.848C>T (p.Thr283Ile)
c.467C>T (p.Thr156Ile)
c.*968C>T (n.*968C>T)
n.3629C>T
c.947C>T (p.Thr316Ile)
c.*438C>T (n.*438C>T)
c.920C>T (p.Thr307Ile)
dbSNP gnomAD v3 gnomAD v4 COSMIC
11g.128810676C>ACA477702630FLI1c.1068C>A (p.Thr356=)
c.1047C>A (p.Thr349=)
c.849C>A (p.Thr283=)
c.468C>A (p.Thr156=)
c.*969C>A (n.*969C>A)
n.3630C>A
c.948C>A (p.Thr316=)
c.*439C>A (n.*439C>A)
c.921C>A (p.Thr307=)
11g.128810676C>GCA477702631FLI1c.1068C>G (p.Thr356=)
c.1047C>G (p.Thr349=)
c.849C>G (p.Thr283=)
c.468C>G (p.Thr156=)
c.*969C>G (n.*969C>G)
n.3630C>G
c.948C>G (p.Thr316=)
c.*439C>G (n.*439C>G)
c.921C>G (p.Thr307=)
11g.128810676C>TCA477702632FLI1c.1068C>T (p.Thr356=)
c.1047C>T (p.Thr349=)
c.849C>T (p.Thr283=)
c.468C>T (p.Thr156=)
c.*969C>T (n.*969C>T)
n.3630C>T
c.948C>T (p.Thr316=)
c.*439C>T (n.*439C>T)
c.921C>T (p.Thr307=)
11g.128810677A>CCA383238923FLI1c.1069A>C (p.Lys357Gln)
c.1048A>C (p.Lys350Gln)
c.850A>C (p.Lys284Gln)
c.469A>C (p.Lys157Gln)
c.*970A>C (n.*970A>C)
n.3631A>C
c.949A>C (p.Lys317Gln)
c.*440A>C (n.*440A>C)
c.922A>C (p.Lys308Gln)
11g.128810677A>GCA383238924FLI1c.1069A>G (p.Lys357Glu)
c.1048A>G (p.Lys350Glu)
c.850A>G (p.Lys284Glu)
c.469A>G (p.Lys157Glu)
c.*970A>G (n.*970A>G)
n.3631A>G
c.949A>G (p.Lys317Glu)
c.*440A>G (n.*440A>G)
c.922A>G (p.Lys308Glu)
COSMIC
11g.128810677A>TCA383238925FLI1c.1069A>T (p.Lys357Ter)
c.1048A>T (p.Lys350Ter)
c.850A>T (p.Lys284Ter)
c.469A>T (p.Lys157Ter)
c.*970A>T (n.*970A>T)
n.3631A>T
c.949A>T (p.Lys317Ter)
c.*440A>T (n.*440A>T)
c.922A>T (p.Lys308Ter)
11g.128810678A>CCA383238926FLI1c.1070A>C (p.Lys357Thr)
c.1049A>C (p.Lys350Thr)
c.851A>C (p.Lys284Thr)
c.470A>C (p.Lys157Thr)
c.*971A>C (n.*971A>C)
n.3632A>C
c.950A>C (p.Lys317Thr)
c.*441A>C (n.*441A>C)
c.923A>C (p.Lys308Thr)
11g.128810678A>GCA383238927FLI1c.1070A>G (p.Lys357Arg)
c.1049A>G (p.Lys350Arg)
c.851A>G (p.Lys284Arg)
c.470A>G (p.Lys157Arg)
c.*971A>G (n.*971A>G)
n.3632A>G
c.950A>G (p.Lys317Arg)
c.*441A>G (n.*441A>G)
c.923A>G (p.Lys308Arg)
11g.128810678A>TCA383238928FLI1c.1070A>T (p.Lys357Ile)
c.1049A>T (p.Lys350Ile)
c.851A>T (p.Lys284Ile)
c.470A>T (p.Lys157Ile)
c.*971A>T (n.*971A>T)
n.3632A>T
c.950A>T (p.Lys317Ile)
c.*441A>T (n.*441A>T)
c.923A>T (p.Lys308Ile)
11g.128810679A>CCA383238929FLI1c.1071A>C (p.Lys357Asn)
c.1050A>C (p.Lys350Asn)
c.852A>C (p.Lys284Asn)
c.471A>C (p.Lys157Asn)
c.*972A>C (n.*972A>C)
n.3633A>C
c.951A>C (p.Lys317Asn)
c.*442A>C (n.*442A>C)
c.924A>C (p.Lys308Asn)
ClinVar
11g.128810679A>GCA477702633FLI1c.1071A>G (p.Lys357=)
c.1050A>G (p.Lys350=)
c.852A>G (p.Lys284=)
c.471A>G (p.Lys157=)
c.*972A>G (n.*972A>G)
n.3633A>G
c.951A>G (p.Lys317=)
c.*442A>G (n.*442A>G)
c.924A>G (p.Lys308=)
gnomAD v4
11g.128810679A>TCA383238930FLI1c.1071A>T (p.Lys357Asn)
c.1050A>T (p.Lys350Asn)
c.852A>T (p.Lys284Asn)
c.471A>T (p.Lys157Asn)
c.*972A>T (n.*972A>T)
n.3633A>T
c.951A>T (p.Lys317Asn)
c.*442A>T (n.*442A>T)
c.924A>T (p.Lys308Asn)
11g.128810680G>ACA383238931FLI1c.1072G>A (p.Val358Met)
c.1051G>A (p.Val351Met)
c.853G>A (p.Val285Met)
c.472G>A (p.Val158Met)
c.*973G>A (n.*973G>A)
n.3634G>A
c.952G>A (p.Val318Met)
c.*443G>A (n.*443G>A)
c.925G>A (p.Val309Met)
11g.128810680G>CCA383238932FLI1c.1072G>C (p.Val358Leu)
c.1051G>C (p.Val351Leu)
c.853G>C (p.Val285Leu)
c.472G>C (p.Val158Leu)
c.*973G>C (n.*973G>C)
n.3634G>C
c.952G>C (p.Val318Leu)
c.*443G>C (n.*443G>C)
c.925G>C (p.Val309Leu)
11g.128810680G>TCA383238933FLI1c.1072G>T (p.Val358Leu)
c.1051G>T (p.Val351Leu)
c.853G>T (p.Val285Leu)
c.472G>T (p.Val158Leu)
c.*973G>T (n.*973G>T)
n.3634G>T
c.952G>T (p.Val318Leu)
c.*443G>T (n.*443G>T)
c.925G>T (p.Val309Leu)
11g.128810681T>ACA383238934FLI1c.1073T>A (p.Val358Glu)
c.1052T>A (p.Val351Glu)
c.854T>A (p.Val285Glu)
c.473T>A (p.Val158Glu)
c.*974T>A (n.*974T>A)
n.3635T>A
c.953T>A (p.Val318Glu)
c.*444T>A (n.*444T>A)
c.926T>A (p.Val309Glu)
11g.128810681T>CCA383238935FLI1c.1073T>C (p.Val358Ala)
c.1052T>C (p.Val351Ala)
c.854T>C (p.Val285Ala)
c.473T>C (p.Val158Ala)
c.*974T>C (n.*974T>C)
n.3635T>C
c.953T>C (p.Val318Ala)
c.*444T>C (n.*444T>C)
c.926T>C (p.Val309Ala)
11g.128810681T>GCA383238936FLI1c.1073T>G (p.Val358Gly)
c.1052T>G (p.Val351Gly)
c.854T>G (p.Val285Gly)
c.473T>G (p.Val158Gly)
c.*974T>G (n.*974T>G)
n.3635T>G
c.953T>G (p.Val318Gly)
c.*444T>G (n.*444T>G)
c.926T>G (p.Val309Gly)
11g.128810682G>ACA477702634FLI1c.1074G>A (p.Val358=)
c.1053G>A (p.Val351=)
c.855G>A (p.Val285=)
c.474G>A (p.Val158=)
c.*975G>A (n.*975G>A)
n.3636G>A
c.954G>A (p.Val318=)
c.*445G>A (n.*445G>A)
c.927G>A (p.Val309=)
dbSNP
11g.128810682G>CCA477702635FLI1c.1074G>C (p.Val358=)
c.1053G>C (p.Val351=)
c.855G>C (p.Val285=)
c.474G>C (p.Val158=)
c.*975G>C (n.*975G>C)
n.3636G>C
c.954G>C (p.Val318=)
c.*445G>C (n.*445G>C)
c.927G>C (p.Val309=)
11g.128810682G=CA2008248470FLI1c.1074G= (p.Val358=)
c.1053G= (p.Val351=)
c.855G= (p.Val285=)
c.474G= (p.Val158=)
c.*975G= (n.*975G=)
n.3636G=
c.954G= (p.Val318=)
c.*445G= (n.*445G=)
c.927G= (p.Val309=)
11g.128810682G>TCA477702636FLI1c.1074G>T (p.Val358=)
c.1053G>T (p.Val351=)
c.855G>T (p.Val285=)
c.474G>T (p.Val158=)
c.*975G>T (n.*975G>T)
n.3636G>T
c.954G>T (p.Val318=)
c.*445G>T (n.*445G>T)
c.927G>T (p.Val309=)
dbSNP gnomAD v2
11g.128810683C>ACA383238937FLI1c.1075C>A (p.His359Asn)
c.1054C>A (p.His352Asn)
c.856C>A (p.His286Asn)
c.475C>A (p.His159Asn)
c.*976C>A (n.*976C>A)
n.3637C>A
c.955C>A (p.His319Asn)
c.*446C>A (n.*446C>A)
c.928C>A (p.His310Asn)
11g.128810683C>GCA383238938FLI1c.1075C>G (p.His359Asp)
c.1054C>G (p.His352Asp)
c.856C>G (p.His286Asp)
c.475C>G (p.His159Asp)
c.*976C>G (n.*976C>G)
n.3637C>G
c.955C>G (p.His319Asp)
c.*446C>G (n.*446C>G)
c.928C>G (p.His310Asp)
11g.128810683C>TCA383238939FLI1c.1075C>T (p.His359Tyr)
c.1054C>T (p.His352Tyr)
c.856C>T (p.His286Tyr)
c.475C>T (p.His159Tyr)
c.*976C>T (n.*976C>T)
n.3637C>T
c.955C>T (p.His319Tyr)
c.*446C>T (n.*446C>T)
c.928C>T (p.His310Tyr)
11g.128810684A>CCA383238940FLI1c.1076A>C (p.His359Pro)
c.1055A>C (p.His352Pro)
c.857A>C (p.His286Pro)
c.476A>C (p.His159Pro)
c.*977A>C (n.*977A>C)
n.3638A>C
c.956A>C (p.His319Pro)
c.*447A>C (n.*447A>C)
c.929A>C (p.His310Pro)
11g.128810684A>GCA383238941FLI1c.1076A>G (p.His359Arg)
c.1055A>G (p.His352Arg)
c.857A>G (p.His286Arg)
c.476A>G (p.His159Arg)
c.*977A>G (n.*977A>G)
n.3638A>G
c.956A>G (p.His319Arg)
c.*447A>G (n.*447A>G)
c.929A>G (p.His310Arg)
11g.128810684A>TCA383238942FLI1c.1076A>T (p.His359Leu)
c.1055A>T (p.His352Leu)
c.857A>T (p.His286Leu)
c.476A>T (p.His159Leu)
c.*977A>T (n.*977A>T)
n.3638A>T
c.956A>T (p.His319Leu)
c.*447A>T (n.*447A>T)
c.929A>T (p.His310Leu)
11g.128810685C>ACA383238944FLI1c.1077C>A (p.His359Gln)
c.1056C>A (p.His352Gln)
c.858C>A (p.His286Gln)
c.477C>A (p.His159Gln)
c.*978C>A (n.*978C>A)
n.3639C>A
c.957C>A (p.His319Gln)
c.*448C>A (n.*448C>A)
c.930C>A (p.His310Gln)
11g.128810685C=CA2008248477FLI1c.1077C= (p.His359=)
c.1056C= (p.His352=)
c.858C= (p.His286=)
c.477C= (p.His159=)
c.*978C= (n.*978C=)
n.3639C=
c.957C= (p.His319=)
c.*448C= (n.*448C=)
c.930C= (p.His310=)
11g.128810685C>GCA383238943FLI1c.1077C>G (p.His359Gln)
c.1056C>G (p.His352Gln)
c.858C>G (p.His286Gln)
c.477C>G (p.His159Gln)
c.*978C>G (n.*978C>G)
n.3639C>G
c.957C>G (p.His319Gln)
c.*448C>G (n.*448C>G)
c.930C>G (p.His310Gln)
11g.128810685C>TCA230604978FLI1c.1077C>T (p.His359=)
c.1056C>T (p.His352=)
c.858C>T (p.His286=)
c.477C>T (p.His159=)
c.*978C>T (n.*978C>T)
n.3639C>T
c.957C>T (p.His319=)
c.*448C>T (n.*448C>T)
c.930C>T (p.His310=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.128810686G>ACA383238945FLI1c.1078G>A (p.Gly360Ser)
c.1057G>A (p.Gly353Ser)
c.859G>A (p.Gly287Ser)
c.478G>A (p.Gly160Ser)
c.*979G>A (n.*979G>A)
n.3640G>A
c.958G>A (p.Gly320Ser)
c.*449G>A (n.*449G>A)
c.931G>A (p.Gly311Ser)
dbSNP gnomAD v2 gnomAD v4
11g.128810686G>CCA383238946FLI1c.1078G>C (p.Gly360Arg)
c.1057G>C (p.Gly353Arg)
c.859G>C (p.Gly287Arg)
c.478G>C (p.Gly160Arg)
c.*979G>C (n.*979G>C)
n.3640G>C
c.958G>C (p.Gly320Arg)
c.*449G>C (n.*449G>C)
c.931G>C (p.Gly311Arg)
11g.128810686G=CA2008248479FLI1c.1078G= (p.Gly360=)
c.1057G= (p.Gly353=)
c.859G= (p.Gly287=)
c.478G= (p.Gly160=)
c.*979G= (n.*979G=)
n.3640G=
c.958G= (p.Gly320=)
c.*449G= (n.*449G=)
c.931G= (p.Gly311=)
11g.128810686G>TCA383238947FLI1c.1078G>T (p.Gly360Cys)
c.1057G>T (p.Gly353Cys)
c.859G>T (p.Gly287Cys)
c.478G>T (p.Gly160Cys)
c.*979G>T (n.*979G>T)
n.3640G>T
c.958G>T (p.Gly320Cys)
c.*449G>T (n.*449G>T)
c.931G>T (p.Gly311Cys)
11g.128810687G>ACA383238948FLI1c.1079G>A (p.Gly360Asp)
c.1058G>A (p.Gly353Asp)
c.860G>A (p.Gly287Asp)
c.479G>A (p.Gly160Asp)
c.*980G>A (n.*980G>A)
n.3641G>A
c.959G>A (p.Gly320Asp)
c.*450G>A (n.*450G>A)
c.932G>A (p.Gly311Asp)
gnomAD v4
11g.128810687G>CCA383238949FLI1c.1079G>C (p.Gly360Ala)
c.1058G>C (p.Gly353Ala)
c.860G>C (p.Gly287Ala)
c.479G>C (p.Gly160Ala)
c.*980G>C (n.*980G>C)
n.3641G>C
c.959G>C (p.Gly320Ala)
c.*450G>C (n.*450G>C)
c.932G>C (p.Gly311Ala)
11g.128810687G>TCA383238950FLI1c.1079G>T (p.Gly360Val)
c.1058G>T (p.Gly353Val)
c.860G>T (p.Gly287Val)
c.479G>T (p.Gly160Val)
c.*980G>T (n.*980G>T)
n.3641G>T
c.959G>T (p.Gly320Val)
c.*450G>T (n.*450G>T)
c.932G>T (p.Gly311Val)
11g.128810688C>ACA477702639FLI1c.1080C>A (p.Gly360=)
c.1059C>A (p.Gly353=)
c.861C>A (p.Gly287=)
c.480C>A (p.Gly160=)
c.*981C>A (n.*981C>A)
n.3642C>A
c.960C>A (p.Gly320=)
c.*451C>A (n.*451C>A)
c.933C>A (p.Gly311=)
11g.128810688C>GCA477702637FLI1c.1080C>G (p.Gly360=)
c.1059C>G (p.Gly353=)
c.861C>G (p.Gly287=)
c.480C>G (p.Gly160=)
c.*981C>G (n.*981C>G)
n.3642C>G
c.960C>G (p.Gly320=)
c.*451C>G (n.*451C>G)
c.933C>G (p.Gly311=)
11g.128810688C>TCA477702638FLI1c.1080C>T (p.Gly360=)
c.1059C>T (p.Gly353=)
c.861C>T (p.Gly287=)
c.480C>T (p.Gly160=)
c.*981C>T (n.*981C>T)
n.3642C>T
c.960C>T (p.Gly320=)
c.*451C>T (n.*451C>T)
c.933C>T (p.Gly311=)
11g.128810689A>CCA383238951FLI1c.1081A>C (p.Lys361Gln)
c.1060A>C (p.Lys354Gln)
c.862A>C (p.Lys288Gln)
c.481A>C (p.Lys161Gln)
c.*982A>C (n.*982A>C)
n.3643A>C
c.961A>C (p.Lys321Gln)
c.*452A>C (n.*452A>C)
c.934A>C (p.Lys312Gln)
11g.128810689A>GCA383238952FLI1c.1081A>G (p.Lys361Glu)
c.1060A>G (p.Lys354Glu)
c.862A>G (p.Lys288Glu)
c.481A>G (p.Lys161Glu)
c.*982A>G (n.*982A>G)
n.3643A>G
c.961A>G (p.Lys321Glu)
c.*452A>G (n.*452A>G)
c.934A>G (p.Lys312Glu)
11g.128810689A>TCA383238953FLI1c.1081A>T (p.Lys361Ter)
c.1060A>T (p.Lys354Ter)
c.862A>T (p.Lys288Ter)
c.481A>T (p.Lys161Ter)
c.*982A>T (n.*982A>T)
n.3643A>T
c.961A>T (p.Lys321Ter)
c.*452A>T (n.*452A>T)
c.934A>T (p.Lys312Ter)
11g.128810690A=CA2008248483FLI1c.1082A= (p.Lys361=)
c.1061A= (p.Lys354=)
c.863A= (p.Lys288=)
c.482A= (p.Lys161=)
c.*983A= (n.*983A=)
n.3644A=
c.962A= (p.Lys321=)
c.*453A= (n.*453A=)
c.935A= (p.Lys312=)
11g.128810690A>CCA383238954FLI1c.1082A>C (p.Lys361Thr)
c.1061A>C (p.Lys354Thr)
c.863A>C (p.Lys288Thr)
c.482A>C (p.Lys161Thr)
c.*983A>C (n.*983A>C)
n.3644A>C
c.962A>C (p.Lys321Thr)
c.*453A>C (n.*453A>C)
c.935A>C (p.Lys312Thr)
11g.128810690A>GCA383238955FLI1c.1082A>G (p.Lys361Arg)
c.1061A>G (p.Lys354Arg)
c.863A>G (p.Lys288Arg)
c.482A>G (p.Lys161Arg)
c.*983A>G (n.*983A>G)
n.3644A>G
c.962A>G (p.Lys321Arg)
c.*453A>G (n.*453A>G)
c.935A>G (p.Lys312Arg)
dbSNP gnomAD v3 gnomAD v4
11g.128810690A>TCA383238956FLI1c.1082A>T (p.Lys361Ile)
c.1061A>T (p.Lys354Ile)
c.863A>T (p.Lys288Ile)
c.482A>T (p.Lys161Ile)
c.*983A>T (n.*983A>T)
n.3644A>T
c.962A>T (p.Lys321Ile)
c.*453A>T (n.*453A>T)
c.935A>T (p.Lys312Ile)
11g.128810691A>CCA383238958FLI1c.1083A>C (p.Lys361Asn)
c.1062A>C (p.Lys354Asn)
c.864A>C (p.Lys288Asn)
c.483A>C (p.Lys161Asn)
c.*984A>C (n.*984A>C)
n.3645A>C
c.963A>C (p.Lys321Asn)
c.*454A>C (n.*454A>C)
c.936A>C (p.Lys312Asn)
11g.128810691A>GCA477702640FLI1c.1083A>G (p.Lys361=)
c.1062A>G (p.Lys354=)
c.864A>G (p.Lys288=)
c.483A>G (p.Lys161=)
c.*984A>G (n.*984A>G)
n.3645A>G
c.963A>G (p.Lys321=)
c.*454A>G (n.*454A>G)
c.936A>G (p.Lys312=)
11g.128810691A>TCA383238957FLI1c.1083A>T (p.Lys361Asn)
c.1062A>T (p.Lys354Asn)
c.864A>T (p.Lys288Asn)
c.483A>T (p.Lys161Asn)
c.*984A>T (n.*984A>T)
n.3645A>T
c.963A>T (p.Lys321Asn)
c.*454A>T (n.*454A>T)
c.936A>T (p.Lys312Asn)
11g.128810692A>CCA477702642FLI1c.1084A>C (p.Arg362=)
c.1063A>C (p.Arg355=)
c.865A>C (p.Arg289=)
c.484A>C (p.Arg162=)
c.*985A>C (n.*985A>C)
n.3646A>C
c.964A>C (p.Arg322=)
c.*455A>C (n.*455A>C)
c.937A>C (p.Arg313=)
11g.128810692A>GCA383238959FLI1c.1084A>G (p.Arg362Gly)
c.1063A>G (p.Arg355Gly)
c.865A>G (p.Arg289Gly)
c.484A>G (p.Arg162Gly)
c.*985A>G (n.*985A>G)
n.3646A>G
c.964A>G (p.Arg322Gly)
c.*455A>G (n.*455A>G)
c.937A>G (p.Arg313Gly)
11g.128810692A>TCA383238960FLI1c.1084A>T (p.Arg362Ter)
c.1063A>T (p.Arg355Ter)
c.865A>T (p.Arg289Ter)
c.484A>T (p.Arg162Ter)
c.*985A>T (n.*985A>T)
n.3646A>T
c.964A>T (p.Arg322Ter)
c.*455A>T (n.*455A>T)
c.937A>T (p.Arg313Ter)
11g.128810693G>ACA383238961FLI1c.1085G>A (p.Arg362Lys)
c.1064G>A (p.Arg355Lys)
c.866G>A (p.Arg289Lys)
c.485G>A (p.Arg162Lys)
c.*986G>A (n.*986G>A)
n.3647G>A
c.965G>A (p.Arg322Lys)
c.*456G>A (n.*456G>A)
c.938G>A (p.Arg313Lys)
11g.128810693G>CCA383238962FLI1c.1085G>C (p.Arg362Thr)
c.1064G>C (p.Arg355Thr)
c.866G>C (p.Arg289Thr)
c.485G>C (p.Arg162Thr)
c.*986G>C (n.*986G>C)
n.3647G>C
c.965G>C (p.Arg322Thr)
c.*456G>C (n.*456G>C)
c.938G>C (p.Arg313Thr)
11g.128810693G>TCA383238963FLI1c.1085G>T (p.Arg362Ile)
c.1064G>T (p.Arg355Ile)
c.866G>T (p.Arg289Ile)
c.485G>T (p.Arg162Ile)
c.*986G>T (n.*986G>T)
n.3647G>T
c.965G>T (p.Arg322Ile)
c.*456G>T (n.*456G>T)
c.938G>T (p.Arg313Ile)
COSMIC
11g.128810694A=CA2008248489FLI1c.1086A= (p.Arg362=)
c.1065A= (p.Arg355=)
c.867A= (p.Arg289=)
c.486A= (p.Arg162=)
c.*987A= (n.*987A=)
n.3648A=
c.966A= (p.Arg322=)
c.*457A= (n.*457A=)
c.939A= (p.Arg313=)
11g.128810694A>CCA383238964FLI1c.1086A>C (p.Arg362Ser)
c.1065A>C (p.Arg355Ser)
c.867A>C (p.Arg289Ser)
c.486A>C (p.Arg162Ser)
c.*987A>C (n.*987A>C)
n.3648A>C
c.966A>C (p.Arg322Ser)
c.*457A>C (n.*457A>C)
c.939A>C (p.Arg313Ser)
11g.128810694A>GCA477702644FLI1c.1086A>G (p.Arg362=)
c.1065A>G (p.Arg355=)
c.867A>G (p.Arg289=)
c.486A>G (p.Arg162=)
c.*987A>G (n.*987A>G)
n.3648A>G
c.966A>G (p.Arg322=)
c.*457A>G (n.*457A>G)
c.939A>G (p.Arg313=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.128810694A>TCA383238965FLI1c.1086A>T (p.Arg362Ser)
c.1065A>T (p.Arg355Ser)
c.867A>T (p.Arg289Ser)
c.486A>T (p.Arg162Ser)
c.*987A>T (n.*987A>T)
n.3648A>T
c.966A>T (p.Arg322Ser)
c.*457A>T (n.*457A>T)
c.939A>T (p.Arg313Ser)
11g.128810695T>ACA383238966FLI1c.1087T>A (p.Tyr363Asn)
c.1066T>A (p.Tyr356Asn)
c.868T>A (p.Tyr290Asn)
c.487T>A (p.Tyr163Asn)
c.*988T>A (n.*988T>A)
n.3649T>A
c.967T>A (p.Tyr323Asn)
c.*458T>A (n.*458T>A)
c.940T>A (p.Tyr314Asn)
11g.128810695T>CCA383238967FLI1c.1087T>C (p.Tyr363His)
c.1066T>C (p.Tyr356His)
c.868T>C (p.Tyr290His)
c.487T>C (p.Tyr163His)
c.*988T>C (n.*988T>C)
n.3649T>C
c.967T>C (p.Tyr323His)
c.*458T>C (n.*458T>C)
c.940T>C (p.Tyr314His)
11g.128810695T>GCA383238968FLI1c.1087T>G (p.Tyr363Asp)
c.1066T>G (p.Tyr356Asp)
c.868T>G (p.Tyr290Asp)
c.487T>G (p.Tyr163Asp)
c.*988T>G (n.*988T>G)
n.3649T>G
c.967T>G (p.Tyr323Asp)
c.*458T>G (n.*458T>G)
c.940T>G (p.Tyr314Asp)
11g.128810696A>CCA383238969FLI1c.1088A>C (p.Tyr363Ser)
c.1067A>C (p.Tyr356Ser)
c.869A>C (p.Tyr290Ser)
c.488A>C (p.Tyr163Ser)
c.*989A>C (n.*989A>C)
n.3650A>C
c.968A>C (p.Tyr323Ser)
c.*459A>C (n.*459A>C)
c.941A>C (p.Tyr314Ser)
11g.128810696A>GCA383238970FLI1c.1088A>G (p.Tyr363Cys)
c.1067A>G (p.Tyr356Cys)
c.869A>G (p.Tyr290Cys)
c.488A>G (p.Tyr163Cys)
c.*989A>G (n.*989A>G)
n.3650A>G
c.968A>G (p.Tyr323Cys)
c.*459A>G (n.*459A>G)
c.941A>G (p.Tyr314Cys)
11g.128810696A>TCA383238971FLI1c.1088A>T (p.Tyr363Phe)
c.1067A>T (p.Tyr356Phe)
c.869A>T (p.Tyr290Phe)
c.488A>T (p.Tyr163Phe)
c.*989A>T (n.*989A>T)
n.3650A>T
c.968A>T (p.Tyr323Phe)
c.*459A>T (n.*459A>T)
c.941A>T (p.Tyr314Phe)
gnomAD v4
11g.128810697T>ACA383238972FLI1c.1089T>A (p.Tyr363Ter)
c.1068T>A (p.Tyr356Ter)
c.870T>A (p.Tyr290Ter)
c.489T>A (p.Tyr163Ter)
c.*990T>A (n.*990T>A)
n.3651T>A
c.969T>A (p.Tyr323Ter)
c.*460T>A (n.*460T>A)
c.942T>A (p.Tyr314Ter)
11g.128810697T>CCA6357303FLI1c.1089T>C (p.Tyr363=)
c.1068T>C (p.Tyr356=)
c.870T>C (p.Tyr290=)
c.489T>C (p.Tyr163=)
c.*990T>C (n.*990T>C)
n.3651T>C
c.969T>C (p.Tyr323=)
c.*460T>C (n.*460T>C)
c.942T>C (p.Tyr314=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.128810697T>GCA6357304FLI1c.1089T>G (p.Tyr363Ter)
c.1068T>G (p.Tyr356Ter)
c.870T>G (p.Tyr290Ter)
c.489T>G (p.Tyr163Ter)
c.*990T>G (n.*990T>G)
n.3651T>G
c.969T>G (p.Tyr323Ter)
c.*460T>G (n.*460T>G)
c.942T>G (p.Tyr314Ter)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.128810697T=CA2008248492FLI1c.1089T= (p.Tyr363=)
c.1068T= (p.Tyr356=)
c.870T= (p.Tyr290=)
c.489T= (p.Tyr163=)
c.*990T= (n.*990T=)
n.3651T=
c.969T= (p.Tyr323=)
c.*460T= (n.*460T=)
c.942T= (p.Tyr314=)
11g.128810698G>ACA383238973FLI1c.1090G>A (p.Ala364Thr)
c.1069G>A (p.Ala357Thr)
c.871G>A (p.Ala291Thr)
c.490G>A (p.Ala164Thr)
c.*991G>A (n.*991G>A)
n.3652G>A
c.970G>A (p.Ala324Thr)
c.*461G>A (n.*461G>A)
c.943G>A (p.Ala315Thr)
11g.128810698G>CCA383238974FLI1c.1090G>C (p.Ala364Pro)
c.1069G>C (p.Ala357Pro)
c.871G>C (p.Ala291Pro)
c.490G>C (p.Ala164Pro)
c.*991G>C (n.*991G>C)
n.3652G>C
c.970G>C (p.Ala324Pro)
c.*461G>C (n.*461G>C)
c.943G>C (p.Ala315Pro)
11g.128810698G>TCA383238975FLI1c.1090G>T (p.Ala364Ser)
c.1069G>T (p.Ala357Ser)
c.871G>T (p.Ala291Ser)
c.490G>T (p.Ala164Ser)
c.*991G>T (n.*991G>T)
n.3652G>T
c.970G>T (p.Ala324Ser)
c.*461G>T (n.*461G>T)
c.943G>T (p.Ala315Ser)
11g.128810699C>ACA383238976FLI1c.1091C>A (p.Ala364Asp)
c.1070C>A (p.Ala357Asp)
c.872C>A (p.Ala291Asp)
c.491C>A (p.Ala164Asp)
c.*992C>A (n.*992C>A)
n.3653C>A
c.971C>A (p.Ala324Asp)
c.*462C>A (n.*462C>A)
c.944C>A (p.Ala315Asp)
11g.128810699C>GCA383238977FLI1c.1091C>G (p.Ala364Gly)
c.1070C>G (p.Ala357Gly)
c.872C>G (p.Ala291Gly)
c.491C>G (p.Ala164Gly)
c.*992C>G (n.*992C>G)
n.3653C>G
c.971C>G (p.Ala324Gly)
c.*462C>G (n.*462C>G)
c.944C>G (p.Ala315Gly)
11g.128810699C>TCA383238978FLI1c.1091C>T (p.Ala364Val)
c.1070C>T (p.Ala357Val)
c.872C>T (p.Ala291Val)
c.491C>T (p.Ala164Val)
c.*992C>T (n.*992C>T)
n.3653C>T
c.971C>T (p.Ala324Val)
c.*462C>T (n.*462C>T)
c.944C>T (p.Ala315Val)
11g.128810700T>ACA477702662FLI1c.1092T>A (p.Ala364=)
c.1071T>A (p.Ala357=)
c.873T>A (p.Ala291=)
c.492T>A (p.Ala164=)
c.*993T>A (n.*993T>A)
n.3654T>A
c.972T>A (p.Ala324=)
c.*463T>A (n.*463T>A)
c.945T>A (p.Ala315=)
11g.128810700T>CCA477702663FLI1c.1092T>C (p.Ala364=)
c.1071T>C (p.Ala357=)
c.873T>C (p.Ala291=)
c.492T>C (p.Ala164=)
c.*993T>C (n.*993T>C)
n.3654T>C
c.972T>C (p.Ala324=)
c.*463T>C (n.*463T>C)
c.945T>C (p.Ala315=)
11g.128810700T>GCA477702664FLI1c.1092T>G (p.Ala364=)
c.1071T>G (p.Ala357=)
c.873T>G (p.Ala291=)
c.492T>G (p.Ala164=)
c.*993T>G (n.*993T>G)
n.3654T>G
c.972T>G (p.Ala324=)
c.*463T>G (n.*463T>G)
c.945T>G (p.Ala315=)
11g.128810701T>ACA383238979FLI1c.1093T>A (p.Tyr365Asn)
c.1072T>A (p.Tyr358Asn)
c.874T>A (p.Tyr292Asn)
c.493T>A (p.Tyr165Asn)
c.*994T>A (n.*994T>A)
n.3655T>A
c.973T>A (p.Tyr325Asn)
c.*464T>A (n.*464T>A)
c.946T>A (p.Tyr316Asn)
11g.128810701T>CCA383238980FLI1c.1093T>C (p.Tyr365His)
c.1072T>C (p.Tyr358His)
c.874T>C (p.Tyr292His)
c.493T>C (p.Tyr165His)
c.*994T>C (n.*994T>C)
n.3655T>C
c.973T>C (p.Tyr325His)
c.*464T>C (n.*464T>C)
c.946T>C (p.Tyr316His)
11g.128810701T>GCA383238981FLI1c.1093T>G (p.Tyr365Asp)
c.1072T>G (p.Tyr358Asp)
c.874T>G (p.Tyr292Asp)
c.493T>G (p.Tyr165Asp)
c.*994T>G (n.*994T>G)
n.3655T>G
c.973T>G (p.Tyr325Asp)
c.*464T>G (n.*464T>G)
c.946T>G (p.Tyr316Asp)
11g.128810702A>CCA383238982FLI1c.1094A>C (p.Tyr365Ser)
c.1073A>C (p.Tyr358Ser)
c.875A>C (p.Tyr292Ser)
c.494A>C (p.Tyr165Ser)
c.*995A>C (n.*995A>C)
n.3656A>C
c.974A>C (p.Tyr325Ser)
c.*465A>C (n.*465A>C)
c.947A>C (p.Tyr316Ser)
11g.128810702A>GCA383238983FLI1c.1094A>G (p.Tyr365Cys)
c.1073A>G (p.Tyr358Cys)
c.875A>G (p.Tyr292Cys)
c.494A>G (p.Tyr165Cys)
c.*995A>G (n.*995A>G)
n.3656A>G
c.974A>G (p.Tyr325Cys)
c.*465A>G (n.*465A>G)
c.947A>G (p.Tyr316Cys)
11g.128810702A>TCA383238984FLI1c.1094A>T (p.Tyr365Phe)
c.1073A>T (p.Tyr358Phe)
c.875A>T (p.Tyr292Phe)
c.494A>T (p.Tyr165Phe)
c.*995A>T (n.*995A>T)
n.3656A>T
c.974A>T (p.Tyr325Phe)
c.*465A>T (n.*465A>T)
c.947A>T (p.Tyr316Phe)
11g.128810703C>ACA383238985FLI1c.1095C>A (p.Tyr365Ter)
c.1074C>A (p.Tyr358Ter)
c.876C>A (p.Tyr292Ter)
c.495C>A (p.Tyr165Ter)
c.*996C>A (n.*996C>A)
n.3657C>A
c.975C>A (p.Tyr325Ter)
c.*466C>A (n.*466C>A)
c.948C>A (p.Tyr316Ter)
11g.128810703C>GCA383238986FLI1c.1095C>G (p.Tyr365Ter)
c.1074C>G (p.Tyr358Ter)
c.876C>G (p.Tyr292Ter)
c.495C>G (p.Tyr165Ter)
c.*996C>G (n.*996C>G)
n.3657C>G
c.975C>G (p.Tyr325Ter)
c.*466C>G (n.*466C>G)
c.948C>G (p.Tyr316Ter)
11g.128810703C>TCA477702668FLI1c.1095C>T (p.Tyr365=)
c.1074C>T (p.Tyr358=)
c.876C>T (p.Tyr292=)
c.495C>T (p.Tyr165=)
c.*996C>T (n.*996C>T)
n.3657C>T
c.975C>T (p.Tyr325=)
c.*466C>T (n.*466C>T)
c.948C>T (p.Tyr316=)
11g.128810704A>CCA383238988FLI1c.1096A>C (p.Lys366Gln)
c.1075A>C (p.Lys359Gln)
c.877A>C (p.Lys293Gln)
c.496A>C (p.Lys166Gln)
c.*997A>C (n.*997A>C)
n.3658A>C
c.976A>C (p.Lys326Gln)
c.*467A>C (n.*467A>C)
c.949A>C (p.Lys317Gln)
11g.128810704A>GCA383238989FLI1c.1096A>G (p.Lys366Glu)
c.1075A>G (p.Lys359Glu)
c.877A>G (p.Lys293Glu)
c.496A>G (p.Lys166Glu)
c.*997A>G (n.*997A>G)
n.3658A>G
c.976A>G (p.Lys326Glu)
c.*467A>G (n.*467A>G)
c.949A>G (p.Lys317Glu)
11g.128810704A>TCA383238987FLI1c.1096A>T (p.Lys366Ter)
c.1075A>T (p.Lys359Ter)
c.877A>T (p.Lys293Ter)
c.496A>T (p.Lys166Ter)
c.*997A>T (n.*997A>T)
n.3658A>T
c.976A>T (p.Lys326Ter)
c.*467A>T (n.*467A>T)
c.949A>T (p.Lys317Ter)
11g.128810705A>CCA383238990FLI1c.1097A>C (p.Lys366Thr)
c.1076A>C (p.Lys359Thr)
c.878A>C (p.Lys293Thr)
c.497A>C (p.Lys166Thr)
c.*998A>C (n.*998A>C)
n.3659A>C
c.977A>C (p.Lys326Thr)
c.*468A>C (n.*468A>C)
c.950A>C (p.Lys317Thr)
11g.128810705A>GCA383238991FLI1c.1097A>G (p.Lys366Arg)
c.1076A>G (p.Lys359Arg)
c.878A>G (p.Lys293Arg)
c.497A>G (p.Lys166Arg)
c.*998A>G (n.*998A>G)
n.3659A>G
c.977A>G (p.Lys326Arg)
c.*468A>G (n.*468A>G)
c.950A>G (p.Lys317Arg)
11g.128810705A>TCA383238992FLI1c.1097A>T (p.Lys366Ile)
c.1076A>T (p.Lys359Ile)
c.878A>T (p.Lys293Ile)
c.497A>T (p.Lys166Ile)
c.*998A>T (n.*998A>T)
n.3659A>T
c.977A>T (p.Lys326Ile)
c.*468A>T (n.*468A>T)
c.950A>T (p.Lys317Ile)
11g.128810706A>CCA383238993FLI1c.1098A>C (p.Lys366Asn)
c.1077A>C (p.Lys359Asn)
c.879A>C (p.Lys293Asn)
c.498A>C (p.Lys166Asn)
c.*999A>C (n.*999A>C)
n.3660A>C
c.978A>C (p.Lys326Asn)
c.*469A>C (n.*469A>C)
c.951A>C (p.Lys317Asn)
11g.128810706A>GCA477702673FLI1c.1098A>G (p.Lys366=)
c.1077A>G (p.Lys359=)
c.879A>G (p.Lys293=)
c.498A>G (p.Lys166=)
c.*999A>G (n.*999A>G)
n.3660A>G
c.978A>G (p.Lys326=)
c.*469A>G (n.*469A>G)
c.951A>G (p.Lys317=)
11g.128810706A>TCA383238994FLI1c.1098A>T (p.Lys366Asn)
c.1077A>T (p.Lys359Asn)
c.879A>T (p.Lys293Asn)
c.498A>T (p.Lys166Asn)
c.*999A>T (n.*999A>T)
n.3660A>T
c.978A>T (p.Lys326Asn)
c.*469A>T (n.*469A>T)
c.951A>T (p.Lys317Asn)
11g.128810707T>ACA383238995FLI1c.1099T>A (p.Phe367Ile)
c.1078T>A (p.Phe360Ile)
c.880T>A (p.Phe294Ile)
c.499T>A (p.Phe167Ile)
c.*1000T>A (n.*1000T>A)
n.3661T>A
c.979T>A (p.Phe327Ile)
c.*470T>A (n.*470T>A)
c.952T>A (p.Phe318Ile)
11g.128810707T>CCA383238996FLI1c.1099T>C (p.Phe367Leu)
c.1078T>C (p.Phe360Leu)
c.880T>C (p.Phe294Leu)
c.499T>C (p.Phe167Leu)
c.*1000T>C (n.*1000T>C)
n.3661T>C
c.979T>C (p.Phe327Leu)
c.*470T>C (n.*470T>C)
c.952T>C (p.Phe318Leu)
11g.128810707T>GCA383238997FLI1c.1099T>G (p.Phe367Val)
c.1078T>G (p.Phe360Val)
c.880T>G (p.Phe294Val)
c.499T>G (p.Phe167Val)
c.*1000T>G (n.*1000T>G)
n.3661T>G
c.979T>G (p.Phe327Val)
c.*470T>G (n.*470T>G)
c.952T>G (p.Phe318Val)
11g.128810708T>ACA383238998FLI1c.1100T>A (p.Phe367Tyr)
c.1079T>A (p.Phe360Tyr)
c.881T>A (p.Phe294Tyr)
c.500T>A (p.Phe167Tyr)
c.*1001T>A (n.*1001T>A)
n.3662T>A
c.980T>A (p.Phe327Tyr)
c.*471T>A (n.*471T>A)
c.953T>A (p.Phe318Tyr)
11g.128810708T>CCA383238999FLI1c.1100T>C (p.Phe367Ser)
c.1079T>C (p.Phe360Ser)
c.881T>C (p.Phe294Ser)
c.500T>C (p.Phe167Ser)
c.*1001T>C (n.*1001T>C)
n.3662T>C
c.980T>C (p.Phe327Ser)
c.*471T>C (n.*471T>C)
c.953T>C (p.Phe318Ser)
11g.128810708T>GCA383239000FLI1c.1100T>G (p.Phe367Cys)
c.1079T>G (p.Phe360Cys)
c.881T>G (p.Phe294Cys)
c.500T>G (p.Phe167Cys)
c.*1001T>G (n.*1001T>G)
n.3662T>G
c.980T>G (p.Phe327Cys)
c.*471T>G (n.*471T>G)
c.953T>G (p.Phe318Cys)
11g.128810709T>ACA383239001FLI1c.1101T>A (p.Phe367Leu)
c.1080T>A (p.Phe360Leu)
c.882T>A (p.Phe294Leu)
c.501T>A (p.Phe167Leu)
c.*1002T>A (n.*1002T>A)
n.3663T>A
c.981T>A (p.Phe327Leu)
c.*472T>A (n.*472T>A)
c.954T>A (p.Phe318Leu)
11g.128810709T>CCA477702677FLI1c.1101T>C (p.Phe367=)
c.1080T>C (p.Phe360=)
c.882T>C (p.Phe294=)
c.501T>C (p.Phe167=)
c.*1002T>C (n.*1002T>C)
n.3663T>C
c.981T>C (p.Phe327=)
c.*472T>C (n.*472T>C)
c.954T>C (p.Phe318=)
gnomAD v4
11g.128810709T>GCA383239002FLI1c.1101T>G (p.Phe367Leu)
c.1080T>G (p.Phe360Leu)
c.882T>G (p.Phe294Leu)
c.501T>G (p.Phe167Leu)
c.*1002T>G (n.*1002T>G)
n.3663T>G
c.981T>G (p.Phe327Leu)
c.*472T>G (n.*472T>G)
c.954T>G (p.Phe318Leu)
11g.128810710G>ACA383239005FLI1c.1102G>A (p.Asp368Asn)
c.1081G>A (p.Asp361Asn)
c.883G>A (p.Asp295Asn)
c.502G>A (p.Asp168Asn)
c.*1003G>A (n.*1003G>A)
n.3664G>A
c.982G>A (p.Asp328Asn)
c.*473G>A (n.*473G>A)
c.955G>A (p.Asp319Asn)
11g.128810710G>CCA383239003FLI1c.1102G>C (p.Asp368His)
c.1081G>C (p.Asp361His)
c.883G>C (p.Asp295His)
c.502G>C (p.Asp168His)
c.*1003G>C (n.*1003G>C)
n.3664G>C
c.982G>C (p.Asp328His)
c.*473G>C (n.*473G>C)
c.955G>C (p.Asp319His)
11g.128810710G>TCA383239004FLI1c.1102G>T (p.Asp368Tyr)
c.1081G>T (p.Asp361Tyr)
c.883G>T (p.Asp295Tyr)
c.502G>T (p.Asp168Tyr)
c.*1003G>T (n.*1003G>T)
n.3664G>T
c.982G>T (p.Asp328Tyr)
c.*473G>T (n.*473G>T)
c.955G>T (p.Asp319Tyr)
11g.128810711A>CCA383239006FLI1c.1103A>C (p.Asp368Ala)
c.1082A>C (p.Asp361Ala)
c.884A>C (p.Asp295Ala)
c.503A>C (p.Asp168Ala)
c.*1004A>C (n.*1004A>C)
n.3665A>C
c.983A>C (p.Asp328Ala)
c.*474A>C (n.*474A>C)
c.956A>C (p.Asp319Ala)
11g.128810711A>GCA383239007FLI1c.1103A>G (p.Asp368Gly)
c.1082A>G (p.Asp361Gly)
c.884A>G (p.Asp295Gly)
c.503A>G (p.Asp168Gly)
c.*1004A>G (n.*1004A>G)
n.3665A>G
c.983A>G (p.Asp328Gly)
c.*474A>G (n.*474A>G)
c.956A>G (p.Asp319Gly)
gnomAD v4
11g.128810711A>TCA383239008FLI1c.1103A>T (p.Asp368Val)
c.1082A>T (p.Asp361Val)
c.884A>T (p.Asp295Val)
c.503A>T (p.Asp168Val)
c.*1004A>T (n.*1004A>T)
n.3665A>T
c.983A>T (p.Asp328Val)
c.*474A>T (n.*474A>T)
c.956A>T (p.Asp319Val)
11g.128810712C>ACA383239009FLI1c.1104C>A (p.Asp368Glu)
c.1083C>A (p.Asp361Glu)
c.885C>A (p.Asp295Glu)
c.504C>A (p.Asp168Glu)
c.*1005C>A (n.*1005C>A)
n.3666C>A
c.984C>A (p.Asp328Glu)
c.*475C>A (n.*475C>A)
c.957C>A (p.Asp319Glu)
11g.128810712C>GCA383239010FLI1c.1104C>G (p.Asp368Glu)
c.1083C>G (p.Asp361Glu)
c.885C>G (p.Asp295Glu)
c.504C>G (p.Asp168Glu)
c.*1005C>G (n.*1005C>G)
n.3666C>G
c.984C>G (p.Asp328Glu)
c.*475C>G (n.*475C>G)
c.957C>G (p.Asp319Glu)
11g.128810712C>TCA477702685FLI1c.1104C>T (p.Asp368=)
c.1083C>T (p.Asp361=)
c.885C>T (p.Asp295=)
c.504C>T (p.Asp168=)
c.*1005C>T (n.*1005C>T)
n.3666C>T
c.984C>T (p.Asp328=)
c.*475C>T (n.*475C>T)
c.957C>T (p.Asp319=)
gnomAD v4
11g.128810713T>ACA383239011FLI1c.1105T>A (p.Phe369Ile)
c.1084T>A (p.Phe362Ile)
c.886T>A (p.Phe296Ile)
c.505T>A (p.Phe169Ile)
c.*1006T>A (n.*1006T>A)
n.3667T>A
c.985T>A (p.Phe329Ile)
c.*476T>A (n.*476T>A)
c.958T>A (p.Phe320Ile)
11g.128810713T>CCA383239012FLI1c.1105T>C (p.Phe369Leu)
c.1084T>C (p.Phe362Leu)
c.886T>C (p.Phe296Leu)
c.505T>C (p.Phe169Leu)
c.*1006T>C (n.*1006T>C)
n.3667T>C
c.985T>C (p.Phe329Leu)
c.*476T>C (n.*476T>C)
c.958T>C (p.Phe320Leu)
11g.128810713T>GCA383239013FLI1c.1105T>G (p.Phe369Val)
c.1084T>G (p.Phe362Val)
c.886T>G (p.Phe296Val)
c.505T>G (p.Phe169Val)
c.*1006T>G (n.*1006T>G)
n.3667T>G
c.985T>G (p.Phe329Val)
c.*476T>G (n.*476T>G)
c.958T>G (p.Phe320Val)
11g.128810714T>ACA383239014FLI1c.1106T>A (p.Phe369Tyr)
c.1085T>A (p.Phe362Tyr)
c.887T>A (p.Phe296Tyr)
c.506T>A (p.Phe169Tyr)
c.*1007T>A (n.*1007T>A)
n.3668T>A
c.986T>A (p.Phe329Tyr)
c.*477T>A (n.*477T>A)
c.959T>A (p.Phe320Tyr)
11g.128810714T>CCA383239015FLI1c.1106T>C (p.Phe369Ser)
c.1085T>C (p.Phe362Ser)
c.887T>C (p.Phe296Ser)
c.506T>C (p.Phe169Ser)
c.*1007T>C (n.*1007T>C)
n.3668T>C
c.986T>C (p.Phe329Ser)
c.*477T>C (n.*477T>C)
c.959T>C (p.Phe320Ser)
11g.128810714T>GCA383239016FLI1c.1106T>G (p.Phe369Cys)
c.1085T>G (p.Phe362Cys)
c.887T>G (p.Phe296Cys)
c.506T>G (p.Phe169Cys)
c.*1007T>G (n.*1007T>G)
n.3668T>G
c.986T>G (p.Phe329Cys)
c.*477T>G (n.*477T>G)
c.959T>G (p.Phe320Cys)
11g.128810715C>ACA383239018FLI1c.1107C>A (p.Phe369Leu)
c.1086C>A (p.Phe362Leu)
c.888C>A (p.Phe296Leu)
c.507C>A (p.Phe169Leu)
c.*1008C>A (n.*1008C>A)
n.3669C>A
c.987C>A (p.Phe329Leu)
c.*478C>A (n.*478C>A)
c.960C>A (p.Phe320Leu)
11g.128810715C=CA2008248496FLI1c.1107C= (p.Phe369=)
c.1086C= (p.Phe362=)
c.888C= (p.Phe296=)
c.507C= (p.Phe169=)
c.*1008C= (n.*1008C=)
n.3669C=
c.987C= (p.Phe329=)
c.*478C= (n.*478C=)
c.960C= (p.Phe320=)
11g.128810715C>GCA383239017FLI1c.1107C>G (p.Phe369Leu)
c.1086C>G (p.Phe362Leu)
c.888C>G (p.Phe296Leu)
c.507C>G (p.Phe169Leu)
c.*1008C>G (n.*1008C>G)
n.3669C>G
c.987C>G (p.Phe329Leu)
c.*478C>G (n.*478C>G)
c.960C>G (p.Phe320Leu)
11g.128810715C>TCA6357305FLI1c.1107C>T (p.Phe369=)
c.1086C>T (p.Phe362=)
c.888C>T (p.Phe296=)
c.507C>T (p.Phe169=)
c.*1008C>T (n.*1008C>T)
n.3669C>T
c.987C>T (p.Phe329=)
c.*478C>T (n.*478C>T)
c.960C>T (p.Phe320=)
dbSNP ExAC gnomAD v2
11g.128810716C>ACA383239019FLI1c.1108C>A (p.His370Asn)
c.1087C>A (p.His363Asn)
c.889C>A (p.His297Asn)
c.508C>A (p.His170Asn)
c.*1009C>A (n.*1009C>A)
n.3670C>A
c.988C>A (p.His330Asn)
c.*479C>A (n.*479C>A)
c.961C>A (p.His321Asn)
11g.128810716C>GCA383239021FLI1c.1108C>G (p.His370Asp)
c.1087C>G (p.His363Asp)
c.889C>G (p.His297Asp)
c.508C>G (p.His170Asp)
c.*1009C>G (n.*1009C>G)
n.3670C>G
c.988C>G (p.His330Asp)
c.*479C>G (n.*479C>G)
c.961C>G (p.His321Asp)
11g.128810716C>TCA383239020FLI1c.1108C>T (p.His370Tyr)
c.1087C>T (p.His363Tyr)
c.889C>T (p.His297Tyr)
c.508C>T (p.His170Tyr)
c.*1009C>T (n.*1009C>T)
n.3670C>T
c.988C>T (p.His330Tyr)
c.*479C>T (n.*479C>T)
c.961C>T (p.His321Tyr)
11g.128810717A>CCA383239022FLI1c.1109A>C (p.His370Pro)
c.1088A>C (p.His363Pro)
c.890A>C (p.His297Pro)
c.509A>C (p.His170Pro)
c.*1010A>C (n.*1010A>C)
n.3671A>C
c.989A>C (p.His330Pro)
c.*480A>C (n.*480A>C)
c.962A>C (p.His321Pro)
11g.128810717A>GCA383239024FLI1c.1109A>G (p.His370Arg)
c.1088A>G (p.His363Arg)
c.890A>G (p.His297Arg)
c.509A>G (p.His170Arg)
c.*1010A>G (n.*1010A>G)
n.3671A>G
c.989A>G (p.His330Arg)
c.*480A>G (n.*480A>G)
c.962A>G (p.His321Arg)
11g.128810717A>TCA383239023FLI1c.1109A>T (p.His370Leu)
c.1088A>T (p.His363Leu)
c.890A>T (p.His297Leu)
c.509A>T (p.His170Leu)
c.*1010A>T (n.*1010A>T)
n.3671A>T
c.989A>T (p.His330Leu)
c.*480A>T (n.*480A>T)
c.962A>T (p.His321Leu)
11g.128810718C>ACA383239025FLI1c.1110C>A (p.His370Gln)
c.1089C>A (p.His363Gln)
c.891C>A (p.His297Gln)
c.510C>A (p.His170Gln)
c.*1011C>A (n.*1011C>A)
n.3672C>A
c.990C>A (p.His330Gln)
c.*481C>A (n.*481C>A)
c.963C>A (p.His321Gln)
11g.128810718C=CA2008248500FLI1c.1110C= (p.His370=)
c.1089C= (p.His363=)
c.891C= (p.His297=)
c.510C= (p.His170=)
c.*1011C= (n.*1011C=)
n.3672C=
c.990C= (p.His330=)
c.*481C= (n.*481C=)
c.963C= (p.His321=)
11g.128810718C>GCA383239026FLI1c.1110C>G (p.His370Gln)
c.1089C>G (p.His363Gln)
c.891C>G (p.His297Gln)
c.510C>G (p.His170Gln)
c.*1011C>G (n.*1011C>G)
n.3672C>G
c.990C>G (p.His330Gln)
c.*481C>G (n.*481C>G)
c.963C>G (p.His321Gln)
11g.128810718C>TCA6357306FLI1c.1110C>T (p.His370=)
c.1089C>T (p.His363=)
c.891C>T (p.His297=)
c.510C>T (p.His170=)
c.*1011C>T (n.*1011C>T)
n.3672C>T
c.990C>T (p.His330=)
c.*481C>T (n.*481C>T)
c.963C>T (p.His321=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.128810719G>ACA6357307FLI1c.1111G>A (p.Gly371Ser)
c.1090G>A (p.Gly364Ser)
c.892G>A (p.Gly298Ser)
c.511G>A (p.Gly171Ser)
c.*1012G>A (n.*1012G>A)
n.3673G>A
c.991G>A (p.Gly331Ser)
c.*482G>A (n.*482G>A)
c.964G>A (p.Gly322Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.128810719G>CCA383239027FLI1c.1111G>C (p.Gly371Arg)
c.1090G>C (p.Gly364Arg)
c.892G>C (p.Gly298Arg)
c.511G>C (p.Gly171Arg)
c.*1012G>C (n.*1012G>C)
n.3673G>C
c.991G>C (p.Gly331Arg)
c.*482G>C (n.*482G>C)
c.964G>C (p.Gly322Arg)
11g.128810719G=CA2008248504FLI1c.1111G= (p.Gly371=)
c.1090G= (p.Gly364=)
c.892G= (p.Gly298=)
c.511G= (p.Gly171=)
c.*1012G= (n.*1012G=)
n.3673G=
c.991G= (p.Gly331=)
c.*482G= (n.*482G=)
c.964G= (p.Gly322=)
11g.128810719G>TCA383239028FLI1c.1111G>T (p.Gly371Cys)
c.1090G>T (p.Gly364Cys)
c.892G>T (p.Gly298Cys)
c.511G>T (p.Gly171Cys)
c.*1012G>T (n.*1012G>T)
n.3673G>T
c.991G>T (p.Gly331Cys)
c.*482G>T (n.*482G>T)
c.964G>T (p.Gly322Cys)
gnomAD v4
11g.128810720G>ACA383239029FLI1c.1112G>A (p.Gly371Asp)
c.1091G>A (p.Gly364Asp)
c.893G>A (p.Gly298Asp)
c.512G>A (p.Gly171Asp)
c.*1013G>A (n.*1013G>A)
n.3674G>A
c.992G>A (p.Gly331Asp)
c.*483G>A (n.*483G>A)
c.965G>A (p.Gly322Asp)
11g.128810720G>CCA383239030FLI1c.1112G>C (p.Gly371Ala)
c.1091G>C (p.Gly364Ala)
c.893G>C (p.Gly298Ala)
c.512G>C (p.Gly171Ala)
c.*1013G>C (n.*1013G>C)
n.3674G>C
c.992G>C (p.Gly331Ala)
c.*483G>C (n.*483G>C)
c.965G>C (p.Gly322Ala)
11g.128810720G>TCA383239031FLI1c.1112G>T (p.Gly371Val)
c.1091G>T (p.Gly364Val)
c.893G>T (p.Gly298Val)
c.512G>T (p.Gly171Val)
c.*1013G>T (n.*1013G>T)
n.3674G>T
c.992G>T (p.Gly331Val)
c.*483G>T (n.*483G>T)
c.965G>T (p.Gly322Val)
11g.128810721C>ACA477702693FLI1c.1113C>A (p.Gly371=)
c.1092C>A (p.Gly364=)
c.894C>A (p.Gly298=)
c.513C>A (p.Gly171=)
c.*1014C>A (n.*1014C>A)
n.3675C>A
c.993C>A (p.Gly331=)
c.*484C>A (n.*484C>A)
c.966C>A (p.Gly322=)
11g.128810721C>GCA477702694FLI1c.1113C>G (p.Gly371=)
c.1092C>G (p.Gly364=)
c.894C>G (p.Gly298=)
c.513C>G (p.Gly171=)
c.*1014C>G (n.*1014C>G)
n.3675C>G
c.993C>G (p.Gly331=)
c.*484C>G (n.*484C>G)
c.966C>G (p.Gly322=)
11g.128810721C>TCA477702695FLI1c.1113C>T (p.Gly371=)
c.1092C>T (p.Gly364=)
c.894C>T (p.Gly298=)
c.513C>T (p.Gly171=)
c.*1014C>T (n.*1014C>T)
n.3675C>T
c.993C>T (p.Gly331=)
c.*484C>T (n.*484C>T)
c.966C>T (p.Gly322=)
11g.128810722A>CCA383239032FLI1c.1114A>C (p.Ile372Leu)
c.1093A>C (p.Ile365Leu)
c.895A>C (p.Ile299Leu)
c.514A>C (p.Ile172Leu)
c.*1015A>C (n.*1015A>C)
n.3676A>C
c.994A>C (p.Ile332Leu)
c.*485A>C (n.*485A>C)
c.967A>C (p.Ile323Leu)
11g.128810722A>GCA383239033FLI1c.1114A>G (p.Ile372Val)
c.1093A>G (p.Ile365Val)
c.895A>G (p.Ile299Val)
c.514A>G (p.Ile172Val)
c.*1015A>G (n.*1015A>G)
n.3676A>G
c.994A>G (p.Ile332Val)
c.*485A>G (n.*485A>G)
c.967A>G (p.Ile323Val)
11g.128810722A>TCA383239034FLI1c.1114A>T (p.Ile372Phe)
c.1093A>T (p.Ile365Phe)
c.895A>T (p.Ile299Phe)
c.514A>T (p.Ile172Phe)
c.*1015A>T (n.*1015A>T)
n.3676A>T
c.994A>T (p.Ile332Phe)
c.*485A>T (n.*485A>T)
c.967A>T (p.Ile323Phe)
11g.128810723T>ACA383239036FLI1c.1115T>A (p.Ile372Asn)
c.1094T>A (p.Ile365Asn)
c.896T>A (p.Ile299Asn)
c.515T>A (p.Ile172Asn)
c.*1016T>A (n.*1016T>A)
n.3677T>A
c.995T>A (p.Ile332Asn)
c.*486T>A (n.*486T>A)
c.968T>A (p.Ile323Asn)
11g.128810723T>CCA6357308FLI1c.1115T>C (p.Ile372Thr)
c.1094T>C (p.Ile365Thr)
c.896T>C (p.Ile299Thr)
c.515T>C (p.Ile172Thr)
c.*1016T>C (n.*1016T>C)
n.3677T>C
c.995T>C (p.Ile332Thr)
c.*486T>C (n.*486T>C)
c.968T>C (p.Ile323Thr)
dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
11g.128810723T>GCA383239035FLI1c.1115T>G (p.Ile372Ser)
c.1094T>G (p.Ile365Ser)
c.896T>G (p.Ile299Ser)
c.515T>G (p.Ile172Ser)
c.*1016T>G (n.*1016T>G)
n.3677T>G
c.995T>G (p.Ile332Ser)
c.*486T>G (n.*486T>G)
c.968T>G (p.Ile323Ser)
11g.128810723T=CA2008248509FLI1c.1115T= (p.Ile372=)
c.1094T= (p.Ile365=)
c.896T= (p.Ile299=)
c.515T= (p.Ile172=)
c.*1016T= (n.*1016T=)
n.3677T=
c.995T= (p.Ile332=)
c.*486T= (n.*486T=)
c.968T= (p.Ile323=)
11g.128810724T>ACA477702703FLI1c.1116T>A (p.Ile372=)
c.1095T>A (p.Ile365=)
c.897T>A (p.Ile299=)
c.516T>A (p.Ile172=)
c.*1017T>A (n.*1017T>A)
n.3678T>A
c.996T>A (p.Ile332=)
c.*487T>A (n.*487T>A)
c.969T>A (p.Ile323=)
11g.128810724T>CCA477702701FLI1c.1116T>C (p.Ile372=)
c.1095T>C (p.Ile365=)
c.897T>C (p.Ile299=)
c.516T>C (p.Ile172=)
c.*1017T>C (n.*1017T>C)
n.3678T>C
c.996T>C (p.Ile332=)
c.*487T>C (n.*487T>C)
c.969T>C (p.Ile323=)
11g.128810724T>GCA383239037FLI1c.1116T>G (p.Ile372Met)
c.1095T>G (p.Ile365Met)
c.897T>G (p.Ile299Met)
c.516T>G (p.Ile172Met)
c.*1017T>G (n.*1017T>G)
n.3678T>G
c.996T>G (p.Ile332Met)
c.*487T>G (n.*487T>G)
c.969T>G (p.Ile323Met)
11g.128810725G>ACA383239038FLI1c.1117G>A (p.Ala373Thr)
c.1096G>A (p.Ala366Thr)
c.898G>A (p.Ala300Thr)
c.517G>A (p.Ala173Thr)
c.*1018G>A (n.*1018G>A)
n.3679G>A
c.997G>A (p.Ala333Thr)
c.*488G>A (n.*488G>A)
c.970G>A (p.Ala324Thr)
gnomAD v4 COSMIC COSMIC
11g.128810725G>CCA383239039FLI1c.1117G>C (p.Ala373Pro)
c.1096G>C (p.Ala366Pro)
c.898G>C (p.Ala300Pro)
c.517G>C (p.Ala173Pro)
c.*1018G>C (n.*1018G>C)
n.3679G>C
c.997G>C (p.Ala333Pro)
c.*488G>C (n.*488G>C)
c.970G>C (p.Ala324Pro)
11g.128810725G=CA2008248515FLI1c.1117G= (p.Ala373=)
c.1096G= (p.Ala366=)
c.898G= (p.Ala300=)
c.517G= (p.Ala173=)
c.*1018G= (n.*1018G=)
n.3679G=
c.997G= (p.Ala333=)
c.*488G= (n.*488G=)
c.970G= (p.Ala324=)
11g.128810725G>TCA6357309FLI1c.1117G>T (p.Ala373Ser)
c.1096G>T (p.Ala366Ser)
c.898G>T (p.Ala300Ser)
c.517G>T (p.Ala173Ser)
c.*1018G>T (n.*1018G>T)
n.3679G>T
c.997G>T (p.Ala333Ser)
c.*488G>T (n.*488G>T)
c.970G>T (p.Ala324Ser)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.128810726C>ACA383239040FLI1c.1118C>A (p.Ala373Asp)
c.1097C>A (p.Ala366Asp)
c.899C>A (p.Ala300Asp)
c.518C>A (p.Ala173Asp)
c.*1019C>A (n.*1019C>A)
n.3680C>A
c.998C>A (p.Ala333Asp)
c.*489C>A (n.*489C>A)
c.971C>A (p.Ala324Asp)
11g.128810726C>GCA383239041FLI1c.1118C>G (p.Ala373Gly)
c.1097C>G (p.Ala366Gly)
c.899C>G (p.Ala300Gly)
c.518C>G (p.Ala173Gly)
c.*1019C>G (n.*1019C>G)
n.3680C>G
c.998C>G (p.Ala333Gly)
c.*489C>G (n.*489C>G)
c.971C>G (p.Ala324Gly)
11g.128810726C>TCA383239042FLI1c.1118C>T (p.Ala373Val)
c.1097C>T (p.Ala366Val)
c.899C>T (p.Ala300Val)
c.518C>T (p.Ala173Val)
c.*1019C>T (n.*1019C>T)
n.3680C>T
c.998C>T (p.Ala333Val)
c.*489C>T (n.*489C>T)
c.971C>T (p.Ala324Val)
11g.128810727C>ACA477702709FLI1c.1119C>A (p.Ala373=)
c.1098C>A (p.Ala366=)
c.900C>A (p.Ala300=)
c.519C>A (p.Ala173=)
c.*1020C>A (n.*1020C>A)
n.3681C>A
c.999C>A (p.Ala333=)
c.*490C>A (n.*490C>A)
c.972C>A (p.Ala324=)
11g.128810727C>GCA477702710FLI1c.1119C>G (p.Ala373=)
c.1098C>G (p.Ala366=)
c.900C>G (p.Ala300=)
c.519C>G (p.Ala173=)
c.*1020C>G (n.*1020C>G)
n.3681C>G
c.999C>G (p.Ala333=)
c.*490C>G (n.*490C>G)
c.972C>G (p.Ala324=)
11g.128810727C>TCA477702712FLI1c.1119C>T (p.Ala373=)
c.1098C>T (p.Ala366=)
c.900C>T (p.Ala300=)
c.519C>T (p.Ala173=)
c.*1020C>T (n.*1020C>T)
n.3681C>T
c.999C>T (p.Ala333=)
c.*490C>T (n.*490C>T)
c.972C>T (p.Ala324=)
COSMIC
11g.128810728C>ACA383239043FLI1c.1120C>A (p.Gln374Lys)
c.1099C>A (p.Gln367Lys)
c.901C>A (p.Gln301Lys)
c.520C>A (p.Gln174Lys)
c.*1021C>A (n.*1021C>A)
n.3682C>A
c.1000C>A (p.Gln334Lys)
c.*491C>A (n.*491C>A)
c.973C>A (p.Gln325Lys)
COSMIC
11g.128810728C>GCA383239044FLI1c.1120C>G (p.Gln374Glu)
c.1099C>G (p.Gln367Glu)
c.901C>G (p.Gln301Glu)
c.520C>G (p.Gln174Glu)
c.*1021C>G (n.*1021C>G)
n.3682C>G
c.1000C>G (p.Gln334Glu)
c.*491C>G (n.*491C>G)
c.973C>G (p.Gln325Glu)
11g.128810728C>TCA383239045FLI1c.1120C>T (p.Gln374Ter)
c.1099C>T (p.Gln367Ter)
c.901C>T (p.Gln301Ter)
c.520C>T (p.Gln174Ter)
c.*1021C>T (n.*1021C>T)
n.3682C>T
c.1000C>T (p.Gln334Ter)
c.*491C>T (n.*491C>T)
c.973C>T (p.Gln325Ter)
11g.128810729A=CA2008248518FLI1c.1121A= (p.Gln374=)
c.1100A= (p.Gln367=)
c.902A= (p.Gln301=)
c.521A= (p.Gln174=)
c.*1022A= (n.*1022A=)
n.3683A=
c.1001A= (p.Gln334=)
c.*492A= (n.*492A=)
c.974A= (p.Gln325=)
11g.128810729A>CCA383239048FLI1c.1121A>C (p.Gln374Pro)
c.1100A>C (p.Gln367Pro)
c.902A>C (p.Gln301Pro)
c.521A>C (p.Gln174Pro)
c.*1022A>C (n.*1022A>C)
n.3683A>C
c.1001A>C (p.Gln334Pro)
c.*492A>C (n.*492A>C)
c.974A>C (p.Gln325Pro)
11g.128810729A>GCA383239047FLI1c.1121A>G (p.Gln374Arg)
c.1100A>G (p.Gln367Arg)
c.902A>G (p.Gln301Arg)
c.521A>G (p.Gln174Arg)
c.*1022A>G (n.*1022A>G)
n.3683A>G
c.1001A>G (p.Gln334Arg)
c.*492A>G (n.*492A>G)
c.974A>G (p.Gln325Arg)
dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
11g.128810729A>TCA383239046FLI1c.1121A>T (p.Gln374Leu)
c.1100A>T (p.Gln367Leu)
c.902A>T (p.Gln301Leu)
c.521A>T (p.Gln174Leu)
c.*1022A>T (n.*1022A>T)
n.3683A>T
c.1001A>T (p.Gln334Leu)
c.*492A>T (n.*492A>T)
c.974A>T (p.Gln325Leu)
11g.128810730G>ACA6357310FLI1c.1122G>A (p.Gln374=)
c.1101G>A (p.Gln367=)
c.903G>A (p.Gln301=)
c.522G>A (p.Gln174=)
c.*1023G>A (n.*1023G>A)
n.3684G>A
c.1002G>A (p.Gln334=)
c.*493G>A (n.*493G>A)
c.975G>A (p.Gln325=)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.128810730G>CCA383239049FLI1c.1122G>C (p.Gln374His)
c.1101G>C (p.Gln367His)
c.903G>C (p.Gln301His)
c.522G>C (p.Gln174His)
c.*1023G>C (n.*1023G>C)
n.3684G>C
c.1002G>C (p.Gln334His)
c.*493G>C (n.*493G>C)
c.975G>C (p.Gln325His)
11g.128810730G=CA2008248520FLI1c.1122G= (p.Gln374=)
c.1101G= (p.Gln367=)
c.903G= (p.Gln301=)
c.522G= (p.Gln174=)
c.*1023G= (n.*1023G=)
n.3684G=
c.1002G= (p.Gln334=)
c.*493G= (n.*493G=)
c.975G= (p.Gln325=)
11g.128810730G>TCA383239050FLI1c.1122G>T (p.Gln374His)
c.1101G>T (p.Gln367His)
c.903G>T (p.Gln301His)
c.522G>T (p.Gln174His)
c.*1023G>T (n.*1023G>T)
n.3684G>T
c.1002G>T (p.Gln334His)
c.*493G>T (n.*493G>T)
c.975G>T (p.Gln325His)
11g.128810731G>ACA383239051FLI1c.1123G>A (p.Ala375Thr)
c.1102G>A (p.Ala368Thr)
c.904G>A (p.Ala302Thr)
c.523G>A (p.Ala175Thr)
c.*1024G>A (n.*1024G>A)
n.3685G>A
c.1003G>A (p.Ala335Thr)
c.*494G>A (n.*494G>A)
c.976G>A (p.Ala326Thr)
gnomAD v4
11g.128810731G>CCA383239052FLI1c.1123G>C (p.Ala375Pro)
c.1102G>C (p.Ala368Pro)
c.904G>C (p.Ala302Pro)
c.523G>C (p.Ala175Pro)
c.*1024G>C (n.*1024G>C)
n.3685G>C
c.1003G>C (p.Ala335Pro)
c.*494G>C (n.*494G>C)
c.976G>C (p.Ala326Pro)
11g.128810731G>TCA383239053FLI1c.1123G>T (p.Ala375Ser)
c.1102G>T (p.Ala368Ser)
c.904G>T (p.Ala302Ser)
c.523G>T (p.Ala175Ser)
c.*1024G>T (n.*1024G>T)
n.3685G>T
c.1003G>T (p.Ala335Ser)
c.*494G>T (n.*494G>T)
c.976G>T (p.Ala326Ser)
11g.128810732C>ACA383239056FLI1c.1124C>A (p.Ala375Asp)
c.1103C>A (p.Ala368Asp)
c.905C>A (p.Ala302Asp)
c.524C>A (p.Ala175Asp)
c.*1025C>A (n.*1025C>A)
n.3686C>A
c.1004C>A (p.Ala335Asp)
c.*495C>A (n.*495C>A)
c.977C>A (p.Ala326Asp)
11g.128810732C>GCA383239054FLI1c.1124C>G (p.Ala375Gly)
c.1103C>G (p.Ala368Gly)
c.905C>G (p.Ala302Gly)
c.524C>G (p.Ala175Gly)
c.*1025C>G (n.*1025C>G)
n.3686C>G
c.1004C>G (p.Ala335Gly)
c.*495C>G (n.*495C>G)
c.977C>G (p.Ala326Gly)
11g.128810732C>TCA383239055FLI1c.1124C>T (p.Ala375Val)
c.1103C>T (p.Ala368Val)
c.905C>T (p.Ala302Val)
c.524C>T (p.Ala175Val)
c.*1025C>T (n.*1025C>T)
n.3686C>T
c.1004C>T (p.Ala335Val)
c.*495C>T (n.*495C>T)
c.977C>T (p.Ala326Val)
gnomAD v4
11g.128810733T>ACA477702645FLI1c.1125T>A (p.Ala375=)
c.1104T>A (p.Ala368=)
c.906T>A (p.Ala302=)
c.525T>A (p.Ala175=)
c.*1026T>A (n.*1026T>A)
n.3687T>A
c.1005T>A (p.Ala335=)
c.*496T>A (n.*496T>A)
c.978T>A (p.Ala326=)
11g.128810733T>CCA477702646FLI1c.1125T>C (p.Ala375=)
c.1104T>C (p.Ala368=)
c.906T>C (p.Ala302=)
c.525T>C (p.Ala175=)
c.*1026T>C (n.*1026T>C)
n.3687T>C
c.1005T>C (p.Ala335=)
c.*496T>C (n.*496T>C)
c.978T>C (p.Ala326=)
11g.128810733T>GCA477702647FLI1c.1125T>G (p.Ala375=)
c.1104T>G (p.Ala368=)
c.906T>G (p.Ala302=)
c.525T>G (p.Ala175=)
c.*1026T>G (n.*1026T>G)
n.3687T>G
c.1005T>G (p.Ala335=)
c.*496T>G (n.*496T>G)
c.978T>G (p.Ala326=)
11g.128810734C>ACA383239057FLI1c.1126C>A (p.Leu376Met)
c.1105C>A (p.Leu369Met)
c.907C>A (p.Leu303Met)
c.526C>A (p.Leu176Met)
c.*1027C>A (n.*1027C>A)
n.3688C>A
c.1006C>A (p.Leu336Met)
c.*497C>A (n.*497C>A)
c.979C>A (p.Leu327Met)
11g.128810734C>GCA383239058FLI1c.1126C>G (p.Leu376Val)
c.1105C>G (p.Leu369Val)
c.907C>G (p.Leu303Val)
c.526C>G (p.Leu176Val)
c.*1027C>G (n.*1027C>G)
n.3688C>G
c.1006C>G (p.Leu336Val)
c.*497C>G (n.*497C>G)
c.979C>G (p.Leu327Val)
11g.128810734C>TCA477702648FLI1c.1126C>T (p.Leu376=)
c.1105C>T (p.Leu369=)
c.907C>T (p.Leu303=)
c.526C>T (p.Leu176=)
c.*1027C>T (n.*1027C>T)
n.3688C>T
c.1006C>T (p.Leu336=)
c.*497C>T (n.*497C>T)
c.979C>T (p.Leu327=)
11g.128810735T>ACA383239059FLI1c.1127T>A (p.Leu376Gln)
c.1106T>A (p.Leu369Gln)
c.908T>A (p.Leu303Gln)
c.527T>A (p.Leu176Gln)
c.*1028T>A (n.*1028T>A)
n.3689T>A
c.1007T>A (p.Leu336Gln)
c.*498T>A (n.*498T>A)
c.980T>A (p.Leu327Gln)
11g.128810735T>CCA383239060FLI1c.1127T>C (p.Leu376Pro)
c.1106T>C (p.Leu369Pro)
c.908T>C (p.Leu303Pro)
c.527T>C (p.Leu176Pro)
c.*1028T>C (n.*1028T>C)
n.3689T>C
c.1007T>C (p.Leu336Pro)
c.*498T>C (n.*498T>C)
c.980T>C (p.Leu327Pro)
11g.128810735T>GCA383239061FLI1c.1127T>G (p.Leu376Arg)
c.1106T>G (p.Leu369Arg)
c.908T>G (p.Leu303Arg)
c.527T>G (p.Leu176Arg)
c.*1028T>G (n.*1028T>G)
n.3689T>G
c.1007T>G (p.Leu336Arg)
c.*498T>G (n.*498T>G)
c.980T>G (p.Leu327Arg)
11g.128810735_128810736delCA645596347FLI1c.1127_1128del (p.Leu376ProfsTer15)
c.1106_1107del (p.Leu369ProfsTer15)
c.908_909del (p.Leu303ProfsTer15)
c.527_528del (p.Leu176ProfsTer15)
c.*1028_*1029del (n.*1028_*1029del)
n.3689_3690del
c.1007_1008del (p.Leu336ProfsTer15)
c.*498_*499del (n.*498_*499del)
c.980_981del (p.Leu327ProfsTer15)
COSMIC
11g.128810736G>ACA477702652FLI1c.1128G>A (p.Leu376=)
c.1107G>A (p.Leu369=)
c.909G>A (p.Leu303=)
c.528G>A (p.Leu176=)
c.*1029G>A (n.*1029G>A)
n.3690G>A
c.1008G>A (p.Leu336=)
c.*499G>A (n.*499G>A)
c.981G>A (p.Leu327=)
11g.128810736G>CCA477702653FLI1c.1128G>C (p.Leu376=)
c.1107G>C (p.Leu369=)
c.909G>C (p.Leu303=)
c.528G>C (p.Leu176=)
c.*1029G>C (n.*1029G>C)
n.3690G>C
c.1008G>C (p.Leu336=)
c.*499G>C (n.*499G>C)
c.981G>C (p.Leu327=)
dbSNP gnomAD v2
11g.128810736G=CA2008248521FLI1c.1128G= (p.Leu376=)
c.1107G= (p.Leu369=)
c.909G= (p.Leu303=)
c.528G= (p.Leu176=)
c.*1029G= (n.*1029G=)
n.3690G=
c.1008G= (p.Leu336=)
c.*499G= (n.*499G=)
c.981G= (p.Leu327=)
11g.128810736G>TCA477702654FLI1c.1128G>T (p.Leu376=)
c.1107G>T (p.Leu369=)
c.909G>T (p.Leu303=)
c.528G>T (p.Leu176=)
c.*1029G>T (n.*1029G>T)
n.3690G>T
c.1008G>T (p.Leu336=)
c.*499G>T (n.*499G>T)
c.981G>T (p.Leu327=)
11g.128810737C>ACA383239062FLI1c.1129C>A (p.Gln377Lys)
c.1108C>A (p.Gln370Lys)
c.910C>A (p.Gln304Lys)
c.529C>A (p.Gln177Lys)
c.*1030C>A (n.*1030C>A)
n.3691C>A
c.1009C>A (p.Gln337Lys)
c.*500C>A (n.*500C>A)
c.982C>A (p.Gln328Lys)
11g.128810737C>GCA383239064FLI1c.1129C>G (p.Gln377Glu)
c.1108C>G (p.Gln370Glu)
c.910C>G (p.Gln304Glu)
c.529C>G (p.Gln177Glu)
c.*1030C>G (n.*1030C>G)
n.3691C>G
c.1009C>G (p.Gln337Glu)
c.*500C>G (n.*500C>G)
c.982C>G (p.Gln328Glu)
11g.128810737C>TCA383239063FLI1c.1129C>T (p.Gln377Ter)
c.1108C>T (p.Gln370Ter)
c.910C>T (p.Gln304Ter)
c.529C>T (p.Gln177Ter)
c.*1030C>T (n.*1030C>T)
n.3691C>T
c.1009C>T (p.Gln337Ter)
c.*500C>T (n.*500C>T)
c.982C>T (p.Gln328Ter)
11g.128810738A>CCA383239065FLI1c.1130A>C (p.Gln377Pro)
c.1109A>C (p.Gln370Pro)
c.911A>C (p.Gln304Pro)
c.530A>C (p.Gln177Pro)
c.*1031A>C (n.*1031A>C)
n.3692A>C
c.1010A>C (p.Gln337Pro)
c.*501A>C (n.*501A>C)
c.983A>C (p.Gln328Pro)
11g.128810738A>GCA383239066FLI1c.1130A>G (p.Gln377Arg)
c.1109A>G (p.Gln370Arg)
c.911A>G (p.Gln304Arg)
c.530A>G (p.Gln177Arg)
c.*1031A>G (n.*1031A>G)
n.3692A>G
c.1010A>G (p.Gln337Arg)
c.*501A>G (n.*501A>G)
c.983A>G (p.Gln328Arg)
11g.128810738A>TCA383239067FLI1c.1130A>T (p.Gln377Leu)
c.1109A>T (p.Gln370Leu)
c.911A>T (p.Gln304Leu)
c.530A>T (p.Gln177Leu)
c.*1031A>T (n.*1031A>T)
n.3692A>T
c.1010A>T (p.Gln337Leu)
c.*501A>T (n.*501A>T)
c.983A>T (p.Gln328Leu)
11g.128810739G>ACA477702656FLI1c.1131G>A (p.Gln377=)
c.1110G>A (p.Gln370=)
c.912G>A (p.Gln304=)
c.531G>A (p.Gln177=)
c.*1032G>A (n.*1032G>A)
n.3693G>A
c.1011G>A (p.Gln337=)
c.*502G>A (n.*502G>A)
c.984G>A (p.Gln328=)
dbSNP
11g.128810739G>CCA383239068FLI1c.1131G>C (p.Gln377His)
c.1110G>C (p.Gln370His)
c.912G>C (p.Gln304His)
c.531G>C (p.Gln177His)
c.*1032G>C (n.*1032G>C)
n.3693G>C
c.1011G>C (p.Gln337His)
c.*502G>C (n.*502G>C)
c.984G>C (p.Gln328His)
11g.128810739G=CA2008248524FLI1c.1131G= (p.Gln377=)
c.1110G= (p.Gln370=)
c.912G= (p.Gln304=)
c.531G= (p.Gln177=)
c.*1032G= (n.*1032G=)
n.3693G=
c.1011G= (p.Gln337=)
c.*502G= (n.*502G=)
c.984G= (p.Gln328=)
11g.128810739G>TCA383239069FLI1c.1131G>T (p.Gln377His)
c.1110G>T (p.Gln370His)
c.912G>T (p.Gln304His)
c.531G>T (p.Gln177His)
c.*1032G>T (n.*1032G>T)
n.3693G>T
c.1011G>T (p.Gln337His)
c.*502G>T (n.*502G>T)
c.984G>T (p.Gln328His)
COSMIC COSMIC
11g.128810740C>ACA383239070FLI1c.1132C>A (p.Pro378Thr)
c.1111C>A (p.Pro371Thr)
c.913C>A (p.Pro305Thr)
c.532C>A (p.Pro178Thr)
c.*1033C>A (n.*1033C>A)
n.3694C>A
c.1012C>A (p.Pro338Thr)
c.*503C>A (n.*503C>A)
c.985C>A (p.Pro329Thr)
11g.128810740C>GCA383239071FLI1c.1132C>G (p.Pro378Ala)
c.1111C>G (p.Pro371Ala)
c.913C>G (p.Pro305Ala)
c.532C>G (p.Pro178Ala)
c.*1033C>G (n.*1033C>G)
n.3694C>G
c.1012C>G (p.Pro338Ala)
c.*503C>G (n.*503C>G)
c.985C>G (p.Pro329Ala)
11g.128810740C>TCA383239072FLI1c.1132C>T (p.Pro378Ser)
c.1111C>T (p.Pro371Ser)
c.913C>T (p.Pro305Ser)
c.532C>T (p.Pro178Ser)
c.*1033C>T (n.*1033C>T)
n.3694C>T
c.1012C>T (p.Pro338Ser)
c.*503C>T (n.*503C>T)
c.985C>T (p.Pro329Ser)
11g.128810741C>ACA383239073FLI1c.1133C>A (p.Pro378Gln)
c.1112C>A (p.Pro371Gln)
c.914C>A (p.Pro305Gln)
c.533C>A (p.Pro178Gln)
c.*1034C>A (n.*1034C>A)
n.3695C>A
c.1013C>A (p.Pro338Gln)
c.*504C>A (n.*504C>A)
c.986C>A (p.Pro329Gln)
11g.128810741C>GCA383239074FLI1c.1133C>G (p.Pro378Arg)
c.1112C>G (p.Pro371Arg)
c.914C>G (p.Pro305Arg)
c.533C>G (p.Pro178Arg)
c.*1034C>G (n.*1034C>G)
n.3695C>G
c.1013C>G (p.Pro338Arg)
c.*504C>G (n.*504C>G)
c.986C>G (p.Pro329Arg)
11g.128810741C>TCA383239075FLI1c.1133C>T (p.Pro378Leu)
c.1112C>T (p.Pro371Leu)
c.914C>T (p.Pro305Leu)
c.533C>T (p.Pro178Leu)
c.*1034C>T (n.*1034C>T)
n.3695C>T
c.1013C>T (p.Pro338Leu)
c.*504C>T (n.*504C>T)
c.986C>T (p.Pro329Leu)
11g.128810742A=CA2008248526FLI1c.1134A= (p.Pro378=)
c.1113A= (p.Pro371=)
c.915A= (p.Pro305=)
c.534A= (p.Pro178=)
c.*1035A= (n.*1035A=)
n.3696A=
c.1014A= (p.Pro338=)
c.*505A= (n.*505A=)
c.987A= (p.Pro329=)
11g.128810742A>CCA477702658FLI1c.1134A>C (p.Pro378=)
c.1113A>C (p.Pro371=)
c.915A>C (p.Pro305=)
c.534A>C (p.Pro178=)
c.*1035A>C (n.*1035A>C)
n.3696A>C
c.1014A>C (p.Pro338=)
c.*505A>C (n.*505A>C)
c.987A>C (p.Pro329=)
11g.128810742A>GCA477702660FLI1c.1134A>G (p.Pro378=)
c.1113A>G (p.Pro371=)
c.915A>G (p.Pro305=)
c.534A>G (p.Pro178=)
c.*1035A>G (n.*1035A>G)
n.3696A>G
c.1014A>G (p.Pro338=)
c.*505A>G (n.*505A>G)
c.987A>G (p.Pro329=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.128810742A>TCA477702661FLI1c.1134A>T (p.Pro378=)
c.1113A>T (p.Pro371=)
c.915A>T (p.Pro305=)
c.534A>T (p.Pro178=)
c.*1035A>T (n.*1035A>T)
n.3696A>T
c.1014A>T (p.Pro338=)
c.*505A>T (n.*505A>T)
c.987A>T (p.Pro329=)
11g.128810743C>ACA383239078FLI1c.1135C>A (p.His379Asn)
c.1114C>A (p.His372Asn)
c.916C>A (p.His306Asn)
c.535C>A (p.His179Asn)
c.*1036C>A (n.*1036C>A)
n.3697C>A
c.1015C>A (p.His339Asn)
c.*506C>A (n.*506C>A)
c.988C>A (p.His330Asn)
11g.128810743C=CA2008248532FLI1c.1135C= (p.His379=)
c.1114C= (p.His372=)
c.916C= (p.His306=)
c.535C= (p.His179=)
c.*1036C= (n.*1036C=)
n.3697C=
c.1015C= (p.His339=)
c.*506C= (n.*506C=)
c.988C= (p.His330=)
11g.128810743C>GCA383239077FLI1c.1135C>G (p.His379Asp)
c.1114C>G (p.His372Asp)
c.916C>G (p.His306Asp)
c.535C>G (p.His179Asp)
c.*1036C>G (n.*1036C>G)
n.3697C>G
c.1015C>G (p.His339Asp)
c.*506C>G (n.*506C>G)
c.988C>G (p.His330Asp)
11g.128810743C>TCA383239076FLI1c.1135C>T (p.His379Tyr)
c.1114C>T (p.His372Tyr)
c.916C>T (p.His306Tyr)
c.535C>T (p.His179Tyr)
c.*1036C>T (n.*1036C>T)
n.3697C>T
c.1015C>T (p.His339Tyr)
c.*506C>T (n.*506C>T)
c.988C>T (p.His330Tyr)
dbSNP gnomAD v3 gnomAD v4
11g.128810744A>CCA383239081FLI1c.1136A>C (p.His379Pro)
c.1115A>C (p.His372Pro)
c.917A>C (p.His306Pro)
c.536A>C (p.His179Pro)
c.*1037A>C (n.*1037A>C)
n.3698A>C
c.1016A>C (p.His339Pro)
c.*507A>C (n.*507A>C)
c.989A>C (p.His330Pro)
11g.128810744A>GCA383239079FLI1c.1136A>G (p.His379Arg)
c.1115A>G (p.His372Arg)
c.917A>G (p.His306Arg)
c.536A>G (p.His179Arg)
c.*1037A>G (n.*1037A>G)
n.3698A>G
c.1016A>G (p.His339Arg)
c.*507A>G (n.*507A>G)
c.989A>G (p.His330Arg)
11g.128810744A>TCA383239080FLI1c.1136A>T (p.His379Leu)
c.1115A>T (p.His372Leu)
c.917A>T (p.His306Leu)
c.536A>T (p.His179Leu)
c.*1037A>T (n.*1037A>T)
n.3698A>T
c.1016A>T (p.His339Leu)
c.*507A>T (n.*507A>T)
c.989A>T (p.His330Leu)
COSMIC
11g.128810745T>ACA383239082FLI1c.1137T>A (p.His379Gln)
c.1116T>A (p.His372Gln)
c.918T>A (p.His306Gln)
c.537T>A (p.His179Gln)
c.*1038T>A (n.*1038T>A)
n.3699T>A
c.1017T>A (p.His339Gln)
c.*508T>A (n.*508T>A)
c.990T>A (p.His330Gln)
11g.128810745T>CCA477702665FLI1c.1137T>C (p.His379=)
c.1116T>C (p.His372=)
c.918T>C (p.His306=)
c.537T>C (p.His179=)
c.*1038T>C (n.*1038T>C)
n.3699T>C
c.1017T>C (p.His339=)
c.*508T>C (n.*508T>C)
c.990T>C (p.His330=)
11g.128810745T>GCA383239083FLI1c.1137T>G (p.His379Gln)
c.1116T>G (p.His372Gln)
c.918T>G (p.His306Gln)
c.537T>G (p.His179Gln)
c.*1038T>G (n.*1038T>G)
n.3699T>G
c.1017T>G (p.His339Gln)
c.*508T>G (n.*508T>G)
c.990T>G (p.His330Gln)
11g.128810746C>ACA383239084FLI1c.1138C>A (p.Pro380Thr)
c.1117C>A (p.Pro373Thr)
c.919C>A (p.Pro307Thr)
c.538C>A (p.Pro180Thr)
c.*1039C>A (n.*1039C>A)
n.3700C>A
c.1018C>A (p.Pro340Thr)
c.*509C>A (n.*509C>A)
c.991C>A (p.Pro331Thr)
11g.128810746C>GCA383239085FLI1c.1138C>G (p.Pro380Ala)
c.1117C>G (p.Pro373Ala)
c.919C>G (p.Pro307Ala)
c.538C>G (p.Pro180Ala)
c.*1039C>G (n.*1039C>G)
n.3700C>G
c.1018C>G (p.Pro340Ala)
c.*509C>G (n.*509C>G)
c.991C>G (p.Pro331Ala)
gnomAD v4
11g.128810746C>TCA383239086FLI1c.1138C>T (p.Pro380Ser)
c.1117C>T (p.Pro373Ser)
c.919C>T (p.Pro307Ser)
c.538C>T (p.Pro180Ser)
c.*1039C>T (n.*1039C>T)
n.3700C>T
c.1018C>T (p.Pro340Ser)
c.*509C>T (n.*509C>T)
c.991C>T (p.Pro331Ser)
COSMIC
11g.128810747C>ACA383239087FLI1c.1139C>A (p.Pro380Gln)
c.1118C>A (p.Pro373Gln)
c.920C>A (p.Pro307Gln)
c.539C>A (p.Pro180Gln)
c.*1040C>A (n.*1040C>A)
n.3701C>A
c.1019C>A (p.Pro340Gln)
c.*510C>A (n.*510C>A)
c.992C>A (p.Pro331Gln)
11g.128810747C=CA2008248534FLI1c.1139C= (p.Pro380=)
c.1118C= (p.Pro373=)
c.920C= (p.Pro307=)
c.539C= (p.Pro180=)
c.*1040C= (n.*1040C=)
n.3701C=
c.1019C= (p.Pro340=)
c.*510C= (n.*510C=)
c.992C= (p.Pro331=)
11g.128810747C>GCA6357311FLI1c.1139C>G (p.Pro380Arg)
c.1118C>G (p.Pro373Arg)
c.920C>G (p.Pro307Arg)
c.539C>G (p.Pro180Arg)
c.*1040C>G (n.*1040C>G)
n.3701C>G
c.1019C>G (p.Pro340Arg)
c.*510C>G (n.*510C>G)
c.992C>G (p.Pro331Arg)
dbSNP ExAC gnomAD v2
11g.128810747C>TCA383239088FLI1c.1139C>T (p.Pro380Leu)
c.1118C>T (p.Pro373Leu)
c.920C>T (p.Pro307Leu)
c.539C>T (p.Pro180Leu)
c.*1040C>T (n.*1040C>T)
n.3701C>T
c.1019C>T (p.Pro340Leu)
c.*510C>T (n.*510C>T)
c.992C>T (p.Pro331Leu)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.128810748G>ACA6357312FLI1c.1140G>A (p.Pro380=)
c.1119G>A (p.Pro373=)
c.921G>A (p.Pro307=)
c.540G>A (p.Pro180=)
c.*1041G>A (n.*1041G>A)
n.3702G>A
c.1020G>A (p.Pro340=)
c.*511G>A (n.*511G>A)
c.993G>A (p.Pro331=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.128810748G>CCA477702670FLI1c.1140G>C (p.Pro380=)
c.1119G>C (p.Pro373=)
c.921G>C (p.Pro307=)
c.540G>C (p.Pro180=)
c.*1041G>C (n.*1041G>C)
n.3702G>C
c.1020G>C (p.Pro340=)
c.*511G>C (n.*511G>C)
c.993G>C (p.Pro331=)
11g.128810748G=CA2008248537FLI1c.1140G= (p.Pro380=)
c.1119G= (p.Pro373=)
c.921G= (p.Pro307=)
c.540G= (p.Pro180=)
c.*1041G= (n.*1041G=)
n.3702G=
c.1020G= (p.Pro340=)
c.*511G= (n.*511G=)
c.993G= (p.Pro331=)
11g.128810748G>TCA477702671FLI1c.1140G>T (p.Pro380=)
c.1119G>T (p.Pro373=)
c.921G>T (p.Pro307=)
c.540G>T (p.Pro180=)
c.*1041G>T (n.*1041G>T)
n.3702G>T
c.1020G>T (p.Pro340=)
c.*511G>T (n.*511G>T)
c.993G>T (p.Pro331=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.128810749A>CCA383239089FLI1c.1141A>C (p.Thr381Pro)
c.1120A>C (p.Thr374Pro)
c.922A>C (p.Thr308Pro)
c.541A>C (p.Thr181Pro)
c.*1042A>C (n.*1042A>C)
n.3703A>C
c.1021A>C (p.Thr341Pro)
c.*512A>C (n.*512A>C)
c.994A>C (p.Thr332Pro)
11g.128810749A>GCA383239090FLI1c.1141A>G (p.Thr381Ala)
c.1120A>G (p.Thr374Ala)
c.922A>G (p.Thr308Ala)
c.541A>G (p.Thr181Ala)
c.*1042A>G (n.*1042A>G)
n.3703A>G
c.1021A>G (p.Thr341Ala)
c.*512A>G (n.*512A>G)
c.994A>G (p.Thr332Ala)
11g.128810749A>TCA383239091FLI1c.1141A>T (p.Thr381Ser)
c.1120A>T (p.Thr374Ser)
c.922A>T (p.Thr308Ser)
c.541A>T (p.Thr181Ser)
c.*1042A>T (n.*1042A>T)
n.3703A>T
c.1021A>T (p.Thr341Ser)
c.*512A>T (n.*512A>T)
c.994A>T (p.Thr332Ser)
11g.128810750C>ACA383239094FLI1c.1142C>A (p.Thr381Asn)
c.1121C>A (p.Thr374Asn)
c.923C>A (p.Thr308Asn)
c.542C>A (p.Thr181Asn)
c.*1043C>A (n.*1043C>A)
n.3704C>A
c.1022C>A (p.Thr341Asn)
c.*513C>A (n.*513C>A)
c.995C>A (p.Thr332Asn)
11g.128810750C>GCA383239092FLI1c.1142C>G (p.Thr381Ser)
c.1121C>G (p.Thr374Ser)
c.923C>G (p.Thr308Ser)
c.542C>G (p.Thr181Ser)
c.*1043C>G (n.*1043C>G)
n.3704C>G
c.1022C>G (p.Thr341Ser)
c.*513C>G (n.*513C>G)
c.995C>G (p.Thr332Ser)
11g.128810750C>TCA383239093FLI1c.1142C>T (p.Thr381Ile)
c.1121C>T (p.Thr374Ile)
c.923C>T (p.Thr308Ile)
c.542C>T (p.Thr181Ile)
c.*1043C>T (n.*1043C>T)
n.3704C>T
c.1022C>T (p.Thr341Ile)
c.*513C>T (n.*513C>T)
c.995C>T (p.Thr332Ile)
11g.128810751C>ACA6357314FLI1c.1143C>A (p.Thr381=)
c.1122C>A (p.Thr374=)
c.924C>A (p.Thr308=)
c.543C>A (p.Thr181=)
c.*1044C>A (n.*1044C>A)
n.3705C>A
c.1023C>A (p.Thr341=)
c.*514C>A (n.*514C>A)
c.996C>A (p.Thr332=)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.128810751C=CA2008248543FLI1c.1143C= (p.Thr381=)
c.1122C= (p.Thr374=)
c.924C= (p.Thr308=)
c.543C= (p.Thr181=)
c.*1044C= (n.*1044C=)
n.3705C=
c.1023C= (p.Thr341=)
c.*514C= (n.*514C=)
c.996C= (p.Thr332=)
11g.128810751C>GCA230605035FLI1c.1143C>G (p.Thr381=)
c.1122C>G (p.Thr374=)
c.924C>G (p.Thr308=)
c.543C>G (p.Thr181=)
c.*1044C>G (n.*1044C>G)
n.3705C>G
c.1023C>G (p.Thr341=)
c.*514C>G (n.*514C>G)
c.996C>G (p.Thr332=)
ClinVar dbSNP gnomAD v2 gnomAD v4
11g.128810751C>TCA6357313FLI1c.1143C>T (p.Thr381=)
c.1122C>T (p.Thr374=)
c.924C>T (p.Thr308=)
c.543C>T (p.Thr181=)
c.*1044C>T (n.*1044C>T)
n.3705C>T
c.1023C>T (p.Thr341=)
c.*514C>T (n.*514C>T)
c.996C>T (p.Thr332=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC

Number of alleles fetched