Chr Mutation (hg38) CAid Gene Transcript Linkouts
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
11g.128810752G>ACA383239095FLI1c.1144G>A (p.Glu382Lys)
c.1123G>A (p.Glu375Lys)
c.925G>A (p.Glu309Lys)
c.544G>A (p.Glu182Lys)
c.*1045G>A (n.*1045G>A)
n.3706G>A
c.1024G>A (p.Glu342Lys)
c.*515G>A (n.*515G>A)
c.997G>A (p.Glu333Lys)
 ClinVar gnomAD v4
11g.128810752G>CCA383239096FLI1c.1144G>C (p.Glu382Gln)
c.1123G>C (p.Glu375Gln)
c.925G>C (p.Glu309Gln)
c.544G>C (p.Glu182Gln)
c.*1045G>C (n.*1045G>C)
n.3706G>C
c.1024G>C (p.Glu342Gln)
c.*515G>C (n.*515G>C)
c.997G>C (p.Glu333Gln)
11g.128810752G>TCA383239097FLI1c.1144G>T (p.Glu382Ter)
c.1123G>T (p.Glu375Ter)
c.925G>T (p.Glu309Ter)
c.544G>T (p.Glu182Ter)
c.*1045G>T (n.*1045G>T)
n.3706G>T
c.1024G>T (p.Glu342Ter)
c.*515G>T (n.*515G>T)
c.997G>T (p.Glu333Ter)
11g.128810753A>CCA383239098FLI1c.1145A>C (p.Glu382Ala)
c.1124A>C (p.Glu375Ala)
c.926A>C (p.Glu309Ala)
c.545A>C (p.Glu182Ala)
c.*1046A>C (n.*1046A>C)
n.3707A>C
c.1025A>C (p.Glu342Ala)
c.*516A>C (n.*516A>C)
c.998A>C (p.Glu333Ala)
11g.128810753A>GCA383239099FLI1c.1145A>G (p.Glu382Gly)
c.1124A>G (p.Glu375Gly)
c.926A>G (p.Glu309Gly)
c.545A>G (p.Glu182Gly)
c.*1046A>G (n.*1046A>G)
n.3707A>G
c.1025A>G (p.Glu342Gly)
c.*516A>G (n.*516A>G)
c.998A>G (p.Glu333Gly)
11g.128810753A>TCA383239100FLI1c.1145A>T (p.Glu382Val)
c.1124A>T (p.Glu375Val)
c.926A>T (p.Glu309Val)
c.545A>T (p.Glu182Val)
c.*1046A>T (n.*1046A>T)
n.3707A>T
c.1025A>T (p.Glu342Val)
c.*516A>T (n.*516A>T)
c.998A>T (p.Glu333Val)
11g.128810754G>ACA477702674FLI1c.1146G>A (p.Glu382=)
c.1125G>A (p.Glu375=)
c.927G>A (p.Glu309=)
c.546G>A (p.Glu182=)
c.*1047G>A (n.*1047G>A)
n.3708G>A
c.1026G>A (p.Glu342=)
c.*517G>A (n.*517G>A)
c.999G>A (p.Glu333=)
11g.128810754G>CCA383239101FLI1c.1146G>C (p.Glu382Asp)
c.1125G>C (p.Glu375Asp)
c.927G>C (p.Glu309Asp)
c.546G>C (p.Glu182Asp)
c.*1047G>C (n.*1047G>C)
n.3708G>C
c.1026G>C (p.Glu342Asp)
c.*517G>C (n.*517G>C)
c.999G>C (p.Glu333Asp)
11g.128810754G>TCA383239102FLI1c.1146G>T (p.Glu382Asp)
c.1125G>T (p.Glu375Asp)
c.927G>T (p.Glu309Asp)
c.546G>T (p.Glu182Asp)
c.*1047G>T (n.*1047G>T)
n.3708G>T
c.1026G>T (p.Glu342Asp)
c.*517G>T (n.*517G>T)
c.999G>T (p.Glu333Asp)
11g.128810755T>ACA383239103FLI1c.1147T>A (p.Ser383Thr)
c.1126T>A (p.Ser376Thr)
c.928T>A (p.Ser310Thr)
c.547T>A (p.Ser183Thr)
c.*1048T>A (n.*1048T>A)
n.3709T>A
c.1027T>A (p.Ser343Thr)
c.*518T>A (n.*518T>A)
c.1000T>A (p.Ser334Thr)
11g.128810755T>CCA383239104FLI1c.1147T>C (p.Ser383Pro)
c.1126T>C (p.Ser376Pro)
c.928T>C (p.Ser310Pro)
c.547T>C (p.Ser183Pro)
c.*1048T>C (n.*1048T>C)
n.3709T>C
c.1027T>C (p.Ser343Pro)
c.*518T>C (n.*518T>C)
c.1000T>C (p.Ser334Pro)
11g.128810755T>GCA383239105FLI1c.1147T>G (p.Ser383Ala)
c.1126T>G (p.Ser376Ala)
c.928T>G (p.Ser310Ala)
c.547T>G (p.Ser183Ala)
c.*1048T>G (n.*1048T>G)
n.3709T>G
c.1027T>G (p.Ser343Ala)
c.*518T>G (n.*518T>G)
c.1000T>G (p.Ser334Ala)
11g.128810756C>ACA383239106FLI1c.1148C>A (p.Ser383Ter)
c.1127C>A (p.Ser376Ter)
c.929C>A (p.Ser310Ter)
c.548C>A (p.Ser183Ter)
c.*1049C>A (n.*1049C>A)
n.3710C>A
c.1028C>A (p.Ser343Ter)
c.*519C>A (n.*519C>A)
c.1001C>A (p.Ser334Ter)
11g.128810756C=CA2008248549FLI1c.1148C= (p.Ser383=)
c.1127C= (p.Ser376=)
c.929C= (p.Ser310=)
c.548C= (p.Ser183=)
c.*1049C= (n.*1049C=)
n.3710C=
c.1028C= (p.Ser343=)
c.*519C= (n.*519C=)
c.1001C= (p.Ser334=)
11g.128810756C>GCA383239107FLI1c.1148C>G (p.Ser383Trp)
c.1127C>G (p.Ser376Trp)
c.929C>G (p.Ser310Trp)
c.548C>G (p.Ser183Trp)
c.*1049C>G (n.*1049C>G)
n.3710C>G
c.1028C>G (p.Ser343Trp)
c.*519C>G (n.*519C>G)
c.1001C>G (p.Ser334Trp)
11g.128810756C>TCA6357315FLI1c.1148C>T (p.Ser383Leu)
c.1127C>T (p.Ser376Leu)
c.929C>T (p.Ser310Leu)
c.548C>T (p.Ser183Leu)
c.*1049C>T (n.*1049C>T)
n.3710C>T
c.1028C>T (p.Ser343Leu)
c.*519C>T (n.*519C>T)
c.1001C>T (p.Ser334Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
11g.128810757G>ACA6357316FLI1c.1149G>A (p.Ser383=)
c.1128G>A (p.Ser376=)
c.930G>A (p.Ser310=)
c.549G>A (p.Ser183=)
c.*1050G>A (n.*1050G>A)
n.3711G>A
c.1029G>A (p.Ser343=)
c.*520G>A (n.*520G>A)
c.1002G>A (p.Ser334=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
11g.128810757G>CCA477702679FLI1c.1149G>C (p.Ser383=)
c.1128G>C (p.Ser376=)
c.930G>C (p.Ser310=)
c.549G>C (p.Ser183=)
c.*1050G>C (n.*1050G>C)
n.3711G>C
c.1029G>C (p.Ser343=)
c.*520G>C (n.*520G>C)
c.1002G>C (p.Ser334=)
11g.128810757G=CA2008248552FLI1c.1149G= (p.Ser383=)
c.1128G= (p.Ser376=)
c.930G= (p.Ser310=)
c.549G= (p.Ser183=)
c.*1050G= (n.*1050G=)
n.3711G=
c.1029G= (p.Ser343=)
c.*520G= (n.*520G=)
c.1002G= (p.Ser334=)
11g.128810757G>TCA477702680FLI1c.1149G>T (p.Ser383=)
c.1128G>T (p.Ser376=)
c.930G>T (p.Ser310=)
c.549G>T (p.Ser183=)
c.*1050G>T (n.*1050G>T)
n.3711G>T
c.1029G>T (p.Ser343=)
c.*520G>T (n.*520G>T)
c.1002G>T (p.Ser334=)
11g.128810758T>ACA383239108FLI1c.1150T>A (p.Ser384Thr)
c.1129T>A (p.Ser377Thr)
c.931T>A (p.Ser311Thr)
c.550T>A (p.Ser184Thr)
c.*1051T>A (n.*1051T>A)
n.3712T>A
c.1030T>A (p.Ser344Thr)
c.*521T>A (n.*521T>A)
c.1003T>A (p.Ser335Thr)
11g.128810758T>CCA383239109FLI1c.1150T>C (p.Ser384Pro)
c.1129T>C (p.Ser377Pro)
c.931T>C (p.Ser311Pro)
c.550T>C (p.Ser184Pro)
c.*1051T>C (n.*1051T>C)
n.3712T>C
c.1030T>C (p.Ser344Pro)
c.*521T>C (n.*521T>C)
c.1003T>C (p.Ser335Pro)
 gnomAD v4
11g.128810758T>GCA383239110FLI1c.1150T>G (p.Ser384Ala)
c.1129T>G (p.Ser377Ala)
c.931T>G (p.Ser311Ala)
c.550T>G (p.Ser184Ala)
c.*1051T>G (n.*1051T>G)
n.3712T>G
c.1030T>G (p.Ser344Ala)
c.*521T>G (n.*521T>G)
c.1003T>G (p.Ser335Ala)
11g.128810759C>ACA230605044FLI1c.1151C>A (p.Ser384Tyr)
c.1130C>A (p.Ser377Tyr)
c.932C>A (p.Ser311Tyr)
c.551C>A (p.Ser184Tyr)
c.*1052C>A (n.*1052C>A)
n.3713C>A
c.1031C>A (p.Ser344Tyr)
c.*522C>A (n.*522C>A)
c.1004C>A (p.Ser335Tyr)
 dbSNP
11g.128810759C=CA2008248558FLI1c.1151C= (p.Ser384=)
c.1130C= (p.Ser377=)
c.932C= (p.Ser311=)
c.551C= (p.Ser184=)
c.*1052C= (n.*1052C=)
n.3713C=
c.1031C= (p.Ser344=)
c.*522C= (n.*522C=)
c.1004C= (p.Ser335=)
11g.128810759C>GCA383239111FLI1c.1151C>G (p.Ser384Cys)
c.1130C>G (p.Ser377Cys)
c.932C>G (p.Ser311Cys)
c.551C>G (p.Ser184Cys)
c.*1052C>G (n.*1052C>G)
n.3713C>G
c.1031C>G (p.Ser344Cys)
c.*522C>G (n.*522C>G)
c.1004C>G (p.Ser335Cys)
11g.128810759C>TCA383239112FLI1c.1151C>T (p.Ser384Phe)
c.1130C>T (p.Ser377Phe)
c.932C>T (p.Ser311Phe)
c.551C>T (p.Ser184Phe)
c.*1052C>T (n.*1052C>T)
n.3713C>T
c.1031C>T (p.Ser344Phe)
c.*522C>T (n.*522C>T)
c.1004C>T (p.Ser335Phe)
11g.128810760C>ACA477702682FLI1c.1152C>A (p.Ser384=)
c.1131C>A (p.Ser377=)
c.933C>A (p.Ser311=)
c.552C>A (p.Ser184=)
c.*1053C>A (n.*1053C>A)
n.3714C>A
c.1032C>A (p.Ser344=)
c.*523C>A (n.*523C>A)
c.1005C>A (p.Ser335=)
11g.128810760C>GCA477702683FLI1c.1152C>G (p.Ser384=)
c.1131C>G (p.Ser377=)
c.933C>G (p.Ser311=)
c.552C>G (p.Ser184=)
c.*1053C>G (n.*1053C>G)
n.3714C>G
c.1032C>G (p.Ser344=)
c.*523C>G (n.*523C>G)
c.1005C>G (p.Ser335=)
11g.128810760C>TCA477702684FLI1c.1152C>T (p.Ser384=)
c.1131C>T (p.Ser377=)
c.933C>T (p.Ser311=)
c.552C>T (p.Ser184=)
c.*1053C>T (n.*1053C>T)
n.3714C>T
c.1032C>T (p.Ser344=)
c.*523C>T (n.*523C>T)
c.1005C>T (p.Ser335=)
11g.128810761A=CA2008248563FLI1c.1153A= (p.Met385=)
c.1132A= (p.Met378=)
c.934A= (p.Met312=)
c.553A= (p.Met185=)
c.*1054A= (n.*1054A=)
n.3715A=
c.1033A= (p.Met345=)
c.*524A= (n.*524A=)
c.1006A= (p.Met336=)
11g.128810761A>CCA383239113FLI1c.1153A>C (p.Met385Leu)
c.1132A>C (p.Met378Leu)
c.934A>C (p.Met312Leu)
c.553A>C (p.Met185Leu)
c.*1054A>C (n.*1054A>C)
n.3715A>C
c.1033A>C (p.Met345Leu)
c.*524A>C (n.*524A>C)
c.1006A>C (p.Met336Leu)
11g.128810761A>GCA383239114FLI1c.1153A>G (p.Met385Val)
c.1132A>G (p.Met378Val)
c.934A>G (p.Met312Val)
c.553A>G (p.Met185Val)
c.*1054A>G (n.*1054A>G)
n.3715A>G
c.1033A>G (p.Met345Val)
c.*524A>G (n.*524A>G)
c.1006A>G (p.Met336Val)
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.128810761A>TCA383239115FLI1c.1153A>T (p.Met385Leu)
c.1132A>T (p.Met378Leu)
c.934A>T (p.Met312Leu)
c.553A>T (p.Met185Leu)
c.*1054A>T (n.*1054A>T)
n.3715A>T
c.1033A>T (p.Met345Leu)
c.*524A>T (n.*524A>T)
c.1006A>T (p.Met336Leu)
11g.128810762T>ACA383239116FLI1c.1154T>A (p.Met385Lys)
c.1133T>A (p.Met378Lys)
c.935T>A (p.Met312Lys)
c.554T>A (p.Met185Lys)
c.*1055T>A (n.*1055T>A)
n.3716T>A
c.1034T>A (p.Met345Lys)
c.*525T>A (n.*525T>A)
c.1007T>A (p.Met336Lys)
 gnomAD v4 COSMIC
11g.128810762T>CCA383239117FLI1c.1154T>C (p.Met385Thr)
c.1133T>C (p.Met378Thr)
c.935T>C (p.Met312Thr)
c.554T>C (p.Met185Thr)
c.*1055T>C (n.*1055T>C)
n.3716T>C
c.1034T>C (p.Met345Thr)
c.*525T>C (n.*525T>C)
c.1007T>C (p.Met336Thr)
 dbSNP gnomAD v2 gnomAD v4
11g.128810762T>GCA383239118FLI1c.1154T>G (p.Met385Arg)
c.1133T>G (p.Met378Arg)
c.935T>G (p.Met312Arg)
c.554T>G (p.Met185Arg)
c.*1055T>G (n.*1055T>G)
n.3716T>G
c.1034T>G (p.Met345Arg)
c.*525T>G (n.*525T>G)
c.1007T>G (p.Met336Arg)
11g.128810762T=CA2008248566FLI1c.1154T= (p.Met385=)
c.1133T= (p.Met378=)
c.935T= (p.Met312=)
c.554T= (p.Met185=)
c.*1055T= (n.*1055T=)
n.3716T=
c.1034T= (p.Met345=)
c.*525T= (n.*525T=)
c.1007T= (p.Met336=)
11g.128810763G>ACA383239120FLI1c.1155G>A (p.Met385Ile)
c.1134G>A (p.Met378Ile)
c.936G>A (p.Met312Ile)
c.555G>A (p.Met185Ile)
c.*1056G>A (n.*1056G>A)
n.3717G>A
c.1035G>A (p.Met345Ile)
c.*526G>A (n.*526G>A)
c.1008G>A (p.Met336Ile)
 ClinVar
11g.128810763G>CCA383239119FLI1c.1155G>C (p.Met385Ile)
c.1134G>C (p.Met378Ile)
c.936G>C (p.Met312Ile)
c.555G>C (p.Met185Ile)
c.*1056G>C (n.*1056G>C)
n.3717G>C
c.1035G>C (p.Met345Ile)
c.*526G>C (n.*526G>C)
c.1008G>C (p.Met336Ile)
11g.128810763G=CA2008248568FLI1c.1155G= (p.Met385=)
c.1134G= (p.Met378=)
c.936G= (p.Met312=)
c.555G= (p.Met185=)
c.*1056G= (n.*1056G=)
n.3717G=
c.1035G= (p.Met345=)
c.*526G= (n.*526G=)
c.1008G= (p.Met336=)
11g.128810763G>TCA6357317FLI1c.1155G>T (p.Met385Ile)
c.1134G>T (p.Met378Ile)
c.936G>T (p.Met312Ile)
c.555G>T (p.Met185Ile)
c.*1056G>T (n.*1056G>T)
n.3717G>T
c.1035G>T (p.Met345Ile)
c.*526G>T (n.*526G>T)
c.1008G>T (p.Met336Ile)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.128810764T>ACA383239121FLI1c.1156T>A (p.Tyr386Asn)
c.1135T>A (p.Tyr379Asn)
c.937T>A (p.Tyr313Asn)
c.556T>A (p.Tyr186Asn)
c.*1057T>A (n.*1057T>A)
n.3718T>A
c.1036T>A (p.Tyr346Asn)
c.*527T>A (n.*527T>A)
c.1009T>A (p.Tyr337Asn)
11g.128810764T>CCA383239122FLI1c.1156T>C (p.Tyr386His)
c.1135T>C (p.Tyr379His)
c.937T>C (p.Tyr313His)
c.556T>C (p.Tyr186His)
c.*1057T>C (n.*1057T>C)
n.3718T>C
c.1036T>C (p.Tyr346His)
c.*527T>C (n.*527T>C)
c.1009T>C (p.Tyr337His)
11g.128810764T>GCA383239123FLI1c.1156T>G (p.Tyr386Asp)
c.1135T>G (p.Tyr379Asp)
c.937T>G (p.Tyr313Asp)
c.556T>G (p.Tyr186Asp)
c.*1057T>G (n.*1057T>G)
n.3718T>G
c.1036T>G (p.Tyr346Asp)
c.*527T>G (n.*527T>G)
c.1009T>G (p.Tyr337Asp)
11g.128810765A=CA2008248573FLI1c.1157A= (p.Tyr386=)
c.1136A= (p.Tyr379=)
c.938A= (p.Tyr313=)
c.557A= (p.Tyr186=)
c.*1058A= (n.*1058A=)
n.3719A=
c.1037A= (p.Tyr346=)
c.*528A= (n.*528A=)
c.1010A= (p.Tyr337=)
11g.128810765A>CCA383239124FLI1c.1157A>C (p.Tyr386Ser)
c.1136A>C (p.Tyr379Ser)
c.938A>C (p.Tyr313Ser)
c.557A>C (p.Tyr186Ser)
c.*1058A>C (n.*1058A>C)
n.3719A>C
c.1037A>C (p.Tyr346Ser)
c.*528A>C (n.*528A>C)
c.1010A>C (p.Tyr337Ser)
11g.128810765A>GCA383239125FLI1c.1157A>G (p.Tyr386Cys)
c.1136A>G (p.Tyr379Cys)
c.938A>G (p.Tyr313Cys)
c.557A>G (p.Tyr186Cys)
c.*1058A>G (n.*1058A>G)
n.3719A>G
c.1037A>G (p.Tyr346Cys)
c.*528A>G (n.*528A>G)
c.1010A>G (p.Tyr337Cys)
11g.128810765A>TCA383239126FLI1c.1157A>T (p.Tyr386Phe)
c.1136A>T (p.Tyr379Phe)
c.938A>T (p.Tyr313Phe)
c.557A>T (p.Tyr186Phe)
c.*1058A>T (n.*1058A>T)
n.3719A>T
c.1037A>T (p.Tyr346Phe)
c.*528A>T (n.*528A>T)
c.1010A>T (p.Tyr337Phe)
 dbSNP gnomAD v2 gnomAD v4
11g.128810766C>ACA383239127FLI1c.1158C>A (p.Tyr386Ter)
c.1137C>A (p.Tyr379Ter)
c.939C>A (p.Tyr313Ter)
c.558C>A (p.Tyr186Ter)
c.*1059C>A (n.*1059C>A)
n.3720C>A
c.1038C>A (p.Tyr346Ter)
c.*529C>A (n.*529C>A)
c.1011C>A (p.Tyr337Ter)
11g.128810766C=CA2008248575FLI1c.1158C= (p.Tyr386=)
c.1137C= (p.Tyr379=)
c.939C= (p.Tyr313=)
c.558C= (p.Tyr186=)
c.*1059C= (n.*1059C=)
n.3720C=
c.1038C= (p.Tyr346=)
c.*529C= (n.*529C=)
c.1011C= (p.Tyr337=)
11g.128810766C>GCA383239128FLI1c.1158C>G (p.Tyr386Ter)
c.1137C>G (p.Tyr379Ter)
c.939C>G (p.Tyr313Ter)
c.558C>G (p.Tyr186Ter)
c.*1059C>G (n.*1059C>G)
n.3720C>G
c.1038C>G (p.Tyr346Ter)
c.*529C>G (n.*529C>G)
c.1011C>G (p.Tyr337Ter)
11g.128810766C>TCA230605056FLI1c.1158C>T (p.Tyr386=)
c.1137C>T (p.Tyr379=)
c.939C>T (p.Tyr313=)
c.558C>T (p.Tyr186=)
c.*1059C>T (n.*1059C>T)
n.3720C>T
c.1038C>T (p.Tyr346=)
c.*529C>T (n.*529C>T)
c.1011C>T (p.Tyr337=)
 dbSNP gnomAD v4
11g.128810767A>CCA383239129FLI1c.1159A>C (p.Lys387Gln)
c.1138A>C (p.Lys380Gln)
c.940A>C (p.Lys314Gln)
c.559A>C (p.Lys187Gln)
c.*1060A>C (n.*1060A>C)
n.3721A>C
c.1039A>C (p.Lys347Gln)
c.*530A>C (n.*530A>C)
c.1012A>C (p.Lys338Gln)
11g.128810767A>GCA383239130FLI1c.1159A>G (p.Lys387Glu)
c.1138A>G (p.Lys380Glu)
c.940A>G (p.Lys314Glu)
c.559A>G (p.Lys187Glu)
c.*1060A>G (n.*1060A>G)
n.3721A>G
c.1039A>G (p.Lys347Glu)
c.*530A>G (n.*530A>G)
c.1012A>G (p.Lys338Glu)
11g.128810767A>TCA383239131FLI1c.1159A>T (p.Lys387Ter)
c.1138A>T (p.Lys380Ter)
c.940A>T (p.Lys314Ter)
c.559A>T (p.Lys187Ter)
c.*1060A>T (n.*1060A>T)
n.3721A>T
c.1039A>T (p.Lys347Ter)
c.*530A>T (n.*530A>T)
c.1012A>T (p.Lys338Ter)
11g.128810768A>CCA383239133FLI1c.1160A>C (p.Lys387Thr)
c.1139A>C (p.Lys380Thr)
c.941A>C (p.Lys314Thr)
c.560A>C (p.Lys187Thr)
c.*1061A>C (n.*1061A>C)
n.3722A>C
c.1040A>C (p.Lys347Thr)
c.*531A>C (n.*531A>C)
c.1013A>C (p.Lys338Thr)
11g.128810768A>GCA383239134FLI1c.1160A>G (p.Lys387Arg)
c.1139A>G (p.Lys380Arg)
c.941A>G (p.Lys314Arg)
c.560A>G (p.Lys187Arg)
c.*1061A>G (n.*1061A>G)
n.3722A>G
c.1040A>G (p.Lys347Arg)
c.*531A>G (n.*531A>G)
c.1013A>G (p.Lys338Arg)
11g.128810768A>TCA383239132FLI1c.1160A>T (p.Lys387Met)
c.1139A>T (p.Lys380Met)
c.941A>T (p.Lys314Met)
c.560A>T (p.Lys187Met)
c.*1061A>T (n.*1061A>T)
n.3722A>T
c.1040A>T (p.Lys347Met)
c.*531A>T (n.*531A>T)
c.1013A>T (p.Lys338Met)
11g.128810769G>ACA477702689FLI1c.1161G>A (p.Lys387=)
c.1140G>A (p.Lys380=)
c.942G>A (p.Lys314=)
c.561G>A (p.Lys187=)
c.*1062G>A (n.*1062G>A)
n.3723G>A
c.1041G>A (p.Lys347=)
c.*532G>A (n.*532G>A)
c.1014G>A (p.Lys338=)
 dbSNP gnomAD v4
11g.128810769G>CCA383239135FLI1c.1161G>C (p.Lys387Asn)
c.1140G>C (p.Lys380Asn)
c.942G>C (p.Lys314Asn)
c.561G>C (p.Lys187Asn)
c.*1062G>C (n.*1062G>C)
n.3723G>C
c.1041G>C (p.Lys347Asn)
c.*532G>C (n.*532G>C)
c.1014G>C (p.Lys338Asn)
11g.128810769G=CA2008248579FLI1c.1161G= (p.Lys387=)
c.1140G= (p.Lys380=)
c.942G= (p.Lys314=)
c.561G= (p.Lys187=)
c.*1062G= (n.*1062G=)
n.3723G=
c.1041G= (p.Lys347=)
c.*532G= (n.*532G=)
c.1014G= (p.Lys338=)
11g.128810769G>TCA383239136FLI1c.1161G>T (p.Lys387Asn)
c.1140G>T (p.Lys380Asn)
c.942G>T (p.Lys314Asn)
c.561G>T (p.Lys187Asn)
c.*1062G>T (n.*1062G>T)
n.3723G>T
c.1041G>T (p.Lys347Asn)
c.*532G>T (n.*532G>T)
c.1014G>T (p.Lys338Asn)
11g.128810770T>ACA383239137FLI1c.1162T>A (p.Tyr388Asn)
c.1141T>A (p.Tyr381Asn)
c.943T>A (p.Tyr315Asn)
c.562T>A (p.Tyr188Asn)
c.*1063T>A (n.*1063T>A)
n.3724T>A
c.1042T>A (p.Tyr348Asn)
c.*533T>A (n.*533T>A)
c.1015T>A (p.Tyr339Asn)
 gnomAD v4
11g.128810770T>CCA383239138FLI1c.1162T>C (p.Tyr388His)
c.1141T>C (p.Tyr381His)
c.943T>C (p.Tyr315His)
c.562T>C (p.Tyr188His)
c.*1063T>C (n.*1063T>C)
n.3724T>C
c.1042T>C (p.Tyr348His)
c.*533T>C (n.*533T>C)
c.1015T>C (p.Tyr339His)
 dbSNP gnomAD v3 gnomAD v4
11g.128810770T>GCA6357318FLI1c.1162T>G (p.Tyr388Asp)
c.1141T>G (p.Tyr381Asp)
c.943T>G (p.Tyr315Asp)
c.562T>G (p.Tyr188Asp)
c.*1063T>G (n.*1063T>G)
n.3724T>G
c.1042T>G (p.Tyr348Asp)
c.*533T>G (n.*533T>G)
c.1015T>G (p.Tyr339Asp)
 dbSNP ExAC gnomAD v2
11g.128810770T=CA2008248582FLI1c.1162T= (p.Tyr388=)
c.1141T= (p.Tyr381=)
c.943T= (p.Tyr315=)
c.562T= (p.Tyr188=)
c.*1063T= (n.*1063T=)
n.3724T=
c.1042T= (p.Tyr348=)
c.*533T= (n.*533T=)
c.1015T= (p.Tyr339=)
11g.128810771A=CA2008248585FLI1c.1163A= (p.Tyr388=)
c.1142A= (p.Tyr381=)
c.944A= (p.Tyr315=)
c.563A= (p.Tyr188=)
c.*1064A= (n.*1064A=)
n.3725A=
c.1043A= (p.Tyr348=)
c.*534A= (n.*534A=)
c.1016A= (p.Tyr339=)
11g.128810771A>CCA383239139FLI1c.1163A>C (p.Tyr388Ser)
c.1142A>C (p.Tyr381Ser)
c.944A>C (p.Tyr315Ser)
c.563A>C (p.Tyr188Ser)
c.*1064A>C (n.*1064A>C)
n.3725A>C
c.1043A>C (p.Tyr348Ser)
c.*534A>C (n.*534A>C)
c.1016A>C (p.Tyr339Ser)
11g.128810771A>GCA383239140FLI1c.1163A>G (p.Tyr388Cys)
c.1142A>G (p.Tyr381Cys)
c.944A>G (p.Tyr315Cys)
c.563A>G (p.Tyr188Cys)
c.*1064A>G (n.*1064A>G)
n.3725A>G
c.1043A>G (p.Tyr348Cys)
c.*534A>G (n.*534A>G)
c.1016A>G (p.Tyr339Cys)
 gnomAD v4
11g.128810771A>TCA383239141FLI1c.1163A>T (p.Tyr388Phe)
c.1142A>T (p.Tyr381Phe)
c.944A>T (p.Tyr315Phe)
c.563A>T (p.Tyr188Phe)
c.*1064A>T (n.*1064A>T)
n.3725A>T
c.1043A>T (p.Tyr348Phe)
c.*534A>T (n.*534A>T)
c.1016A>T (p.Tyr339Phe)
 dbSNP gnomAD v2 gnomAD v4
11g.128810772C>ACA383239142FLI1c.1164C>A (p.Tyr388Ter)
c.1143C>A (p.Tyr381Ter)
c.945C>A (p.Tyr315Ter)
c.564C>A (p.Tyr188Ter)
c.*1065C>A (n.*1065C>A)
n.3726C>A
c.1044C>A (p.Tyr348Ter)
c.*535C>A (n.*535C>A)
c.1017C>A (p.Tyr339Ter)
11g.128810772C>GCA383239143FLI1c.1164C>G (p.Tyr388Ter)
c.1143C>G (p.Tyr381Ter)
c.945C>G (p.Tyr315Ter)
c.564C>G (p.Tyr188Ter)
c.*1065C>G (n.*1065C>G)
n.3726C>G
c.1044C>G (p.Tyr348Ter)
c.*535C>G (n.*535C>G)
c.1017C>G (p.Tyr339Ter)
11g.128810772C>TCA477702691FLI1c.1164C>T (p.Tyr388=)
c.1143C>T (p.Tyr381=)
c.945C>T (p.Tyr315=)
c.564C>T (p.Tyr188=)
c.*1065C>T (n.*1065C>T)
n.3726C>T
c.1044C>T (p.Tyr348=)
c.*535C>T (n.*535C>T)
c.1017C>T (p.Tyr339=)
 gnomAD v4
11g.128810773C>ACA383239144FLI1c.1165C>A (p.Pro389Thr)
c.1144C>A (p.Pro382Thr)
c.946C>A (p.Pro316Thr)
c.565C>A (p.Pro189Thr)
c.*1066C>A (n.*1066C>A)
n.3727C>A
c.1045C>A (p.Pro349Thr)
c.*536C>A (n.*536C>A)
c.1018C>A (p.Pro340Thr)
 gnomAD v4
11g.128810773C=CA2008248587FLI1c.1165C= (p.Pro389=)
c.1144C= (p.Pro382=)
c.946C= (p.Pro316=)
c.565C= (p.Pro189=)
c.*1066C= (n.*1066C=)
n.3727C=
c.1045C= (p.Pro349=)
c.*536C= (n.*536C=)
c.1018C= (p.Pro340=)
11g.128810773C>GCA383239145FLI1c.1165C>G (p.Pro389Ala)
c.1144C>G (p.Pro382Ala)
c.946C>G (p.Pro316Ala)
c.565C>G (p.Pro189Ala)
c.*1066C>G (n.*1066C>G)
n.3727C>G
c.1045C>G (p.Pro349Ala)
c.*536C>G (n.*536C>G)
c.1018C>G (p.Pro340Ala)
11g.128810773C>TCA383239146FLI1c.1165C>T (p.Pro389Ser)
c.1144C>T (p.Pro382Ser)
c.946C>T (p.Pro316Ser)
c.565C>T (p.Pro189Ser)
c.*1066C>T (n.*1066C>T)
n.3727C>T
c.1045C>T (p.Pro349Ser)
c.*536C>T (n.*536C>T)
c.1018C>T (p.Pro340Ser)
 dbSNP gnomAD v4 COSMIC
11g.128810774C>ACA383239147FLI1c.1166C>A (p.Pro389His)
c.1145C>A (p.Pro382His)
c.947C>A (p.Pro316His)
c.566C>A (p.Pro189His)
c.*1067C>A (n.*1067C>A)
n.3728C>A
c.1046C>A (p.Pro349His)
c.*537C>A (n.*537C>A)
c.1019C>A (p.Pro340His)
11g.128810774C>GCA383239148FLI1c.1166C>G (p.Pro389Arg)
c.1145C>G (p.Pro382Arg)
c.947C>G (p.Pro316Arg)
c.566C>G (p.Pro189Arg)
c.*1067C>G (n.*1067C>G)
n.3728C>G
c.1046C>G (p.Pro349Arg)
c.*537C>G (n.*537C>G)
c.1019C>G (p.Pro340Arg)
11g.128810774C>TCA383239149FLI1c.1166C>T (p.Pro389Leu)
c.1145C>T (p.Pro382Leu)
c.947C>T (p.Pro316Leu)
c.566C>T (p.Pro189Leu)
c.*1067C>T (n.*1067C>T)
n.3728C>T
c.1046C>T (p.Pro349Leu)
c.*537C>T (n.*537C>T)
c.1019C>T (p.Pro340Leu)
 ClinVar gnomAD v4
11g.128810775T>ACA477702696FLI1c.1167T>A (p.Pro389=)
c.1146T>A (p.Pro382=)
c.948T>A (p.Pro316=)
c.567T>A (p.Pro189=)
c.*1068T>A (n.*1068T>A)
n.3729T>A
c.1047T>A (p.Pro349=)
c.*538T>A (n.*538T>A)
c.1020T>A (p.Pro340=)
11g.128810775T>CCA477702697FLI1c.1167T>C (p.Pro389=)
c.1146T>C (p.Pro382=)
c.948T>C (p.Pro316=)
c.567T>C (p.Pro189=)
c.*1068T>C (n.*1068T>C)
n.3729T>C
c.1047T>C (p.Pro349=)
c.*538T>C (n.*538T>C)
c.1020T>C (p.Pro340=)
11g.128810775T>GCA477702698FLI1c.1167T>G (p.Pro389=)
c.1146T>G (p.Pro382=)
c.948T>G (p.Pro316=)
c.567T>G (p.Pro189=)
c.*1068T>G (n.*1068T>G)
n.3729T>G
c.1047T>G (p.Pro349=)
c.*538T>G (n.*538T>G)
c.1020T>G (p.Pro340=)
11g.128810776T>ACA383239152FLI1c.1168T>A (p.Ser390Thr)
c.1147T>A (p.Ser383Thr)
c.949T>A (p.Ser317Thr)
c.568T>A (p.Ser190Thr)
c.*1069T>A (n.*1069T>A)
n.3730T>A
c.1048T>A (p.Ser350Thr)
c.*539T>A (n.*539T>A)
c.1021T>A (p.Ser341Thr)
11g.128810776T>CCA383239150FLI1c.1168T>C (p.Ser390Pro)
c.1147T>C (p.Ser383Pro)
c.949T>C (p.Ser317Pro)
c.568T>C (p.Ser190Pro)
c.*1069T>C (n.*1069T>C)
n.3730T>C
c.1048T>C (p.Ser350Pro)
c.*539T>C (n.*539T>C)
c.1021T>C (p.Ser341Pro)
11g.128810776T>GCA383239151FLI1c.1168T>G (p.Ser390Ala)
c.1147T>G (p.Ser383Ala)
c.949T>G (p.Ser317Ala)
c.568T>G (p.Ser190Ala)
c.*1069T>G (n.*1069T>G)
n.3730T>G
c.1048T>G (p.Ser350Ala)
c.*539T>G (n.*539T>G)
c.1021T>G (p.Ser341Ala)
11g.128810777C>ACA383239153FLI1c.1169C>A (p.Ser390Tyr)
c.1148C>A (p.Ser383Tyr)
c.950C>A (p.Ser317Tyr)
c.569C>A (p.Ser190Tyr)
c.*1070C>A (n.*1070C>A)
n.3731C>A
c.1049C>A (p.Ser350Tyr)
c.*540C>A (n.*540C>A)
c.1022C>A (p.Ser341Tyr)
11g.128810777C>GCA383239154FLI1c.1169C>G (p.Ser390Cys)
c.1148C>G (p.Ser383Cys)
c.950C>G (p.Ser317Cys)
c.569C>G (p.Ser190Cys)
c.*1070C>G (n.*1070C>G)
n.3731C>G
c.1049C>G (p.Ser350Cys)
c.*540C>G (n.*540C>G)
c.1022C>G (p.Ser341Cys)
11g.128810777C>TCA383239155FLI1c.1169C>T (p.Ser390Phe)
c.1148C>T (p.Ser383Phe)
c.950C>T (p.Ser317Phe)
c.569C>T (p.Ser190Phe)
c.*1070C>T (n.*1070C>T)
n.3731C>T
c.1049C>T (p.Ser350Phe)
c.*540C>T (n.*540C>T)
c.1022C>T (p.Ser341Phe)
 COSMIC
11g.128810778T>ACA477702699FLI1c.1170T>A (p.Ser390=)
c.1149T>A (p.Ser383=)
c.951T>A (p.Ser317=)
c.570T>A (p.Ser190=)
c.*1071T>A (n.*1071T>A)
n.3732T>A
c.1050T>A (p.Ser350=)
c.*541T>A (n.*541T>A)
c.1023T>A (p.Ser341=)
11g.128810778T>CCA477702700FLI1c.1170T>C (p.Ser390=)
c.1149T>C (p.Ser383=)
c.951T>C (p.Ser317=)
c.570T>C (p.Ser190=)
c.*1071T>C (n.*1071T>C)
n.3732T>C
c.1050T>C (p.Ser350=)
c.*541T>C (n.*541T>C)
c.1023T>C (p.Ser341=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.128810778T>GCA477702702FLI1c.1170T>G (p.Ser390=)
c.1149T>G (p.Ser383=)
c.951T>G (p.Ser317=)
c.570T>G (p.Ser190=)
c.*1071T>G (n.*1071T>G)
n.3732T>G
c.1050T>G (p.Ser350=)
c.*541T>G (n.*541T>G)
c.1023T>G (p.Ser341=)
11g.128810778T=CA2008248591FLI1c.1170T= (p.Ser390=)
c.1149T= (p.Ser383=)
c.951T= (p.Ser317=)
c.570T= (p.Ser190=)
c.*1071T= (n.*1071T=)
n.3732T=
c.1050T= (p.Ser350=)
c.*541T= (n.*541T=)
c.1023T= (p.Ser341=)
11g.128810779G>ACA383239156FLI1c.1171G>A (p.Asp391Asn)
c.1150G>A (p.Asp384Asn)
c.952G>A (p.Asp318Asn)
c.571G>A (p.Asp191Asn)
c.*1072G>A (n.*1072G>A)
n.3733G>A
c.1051G>A (p.Asp351Asn)
c.*542G>A (n.*542G>A)
c.1024G>A (p.Asp342Asn)
11g.128810779G>CCA383239157FLI1c.1171G>C (p.Asp391His)
c.1150G>C (p.Asp384His)
c.952G>C (p.Asp318His)
c.571G>C (p.Asp191His)
c.*1072G>C (n.*1072G>C)
n.3733G>C
c.1051G>C (p.Asp351His)
c.*542G>C (n.*542G>C)
c.1024G>C (p.Asp342His)
11g.128810779G>TCA383239158FLI1c.1171G>T (p.Asp391Tyr)
c.1150G>T (p.Asp384Tyr)
c.952G>T (p.Asp318Tyr)
c.571G>T (p.Asp191Tyr)
c.*1072G>T (n.*1072G>T)
n.3733G>T
c.1051G>T (p.Asp351Tyr)
c.*542G>T (n.*542G>T)
c.1024G>T (p.Asp342Tyr)
11g.128810780A>CCA383239159FLI1c.1172A>C (p.Asp391Ala)
c.1151A>C (p.Asp384Ala)
c.953A>C (p.Asp318Ala)
c.572A>C (p.Asp191Ala)
c.*1073A>C (n.*1073A>C)
n.3734A>C
c.1052A>C (p.Asp351Ala)
c.*543A>C (n.*543A>C)
c.1025A>C (p.Asp342Ala)
11g.128810780A>GCA383239160FLI1c.1172A>G (p.Asp391Gly)
c.1151A>G (p.Asp384Gly)
c.953A>G (p.Asp318Gly)
c.572A>G (p.Asp191Gly)
c.*1073A>G (n.*1073A>G)
n.3734A>G
c.1052A>G (p.Asp351Gly)
c.*543A>G (n.*543A>G)
c.1025A>G (p.Asp342Gly)
11g.128810780A>TCA383239161FLI1c.1172A>T (p.Asp391Val)
c.1151A>T (p.Asp384Val)
c.953A>T (p.Asp318Val)
c.572A>T (p.Asp191Val)
c.*1073A>T (n.*1073A>T)
n.3734A>T
c.1052A>T (p.Asp351Val)
c.*543A>T (n.*543A>T)
c.1025A>T (p.Asp342Val)
11g.128810781C>ACA383239162FLI1c.1173C>A (p.Asp391Glu)
c.1152C>A (p.Asp384Glu)
c.954C>A (p.Asp318Glu)
c.573C>A (p.Asp191Glu)
c.*1074C>A (n.*1074C>A)
n.3735C>A
c.1053C>A (p.Asp351Glu)
c.*544C>A (n.*544C>A)
c.1026C>A (p.Asp342Glu)
11g.128810781C>GCA383239163FLI1c.1173C>G (p.Asp391Glu)
c.1152C>G (p.Asp384Glu)
c.954C>G (p.Asp318Glu)
c.573C>G (p.Asp191Glu)
c.*1074C>G (n.*1074C>G)
n.3735C>G
c.1053C>G (p.Asp351Glu)
c.*544C>G (n.*544C>G)
c.1026C>G (p.Asp342Glu)
11g.128810781C>TCA477702705FLI1c.1173C>T (p.Asp391=)
c.1152C>T (p.Asp384=)
c.954C>T (p.Asp318=)
c.573C>T (p.Asp191=)
c.*1074C>T (n.*1074C>T)
n.3735C>T
c.1053C>T (p.Asp351=)
c.*544C>T (n.*544C>T)
c.1026C>T (p.Asp342=)
11g.128810782A>CCA383239165FLI1c.1174A>C (p.Ile392Leu)
c.1153A>C (p.Ile385Leu)
c.955A>C (p.Ile319Leu)
c.574A>C (p.Ile192Leu)
c.*1075A>C (n.*1075A>C)
n.3736A>C
c.1054A>C (p.Ile352Leu)
c.*545A>C (n.*545A>C)
c.1027A>C (p.Ile343Leu)
11g.128810782A>GCA383239166FLI1c.1174A>G (p.Ile392Val)
c.1153A>G (p.Ile385Val)
c.955A>G (p.Ile319Val)
c.574A>G (p.Ile192Val)
c.*1075A>G (n.*1075A>G)
n.3736A>G
c.1054A>G (p.Ile352Val)
c.*545A>G (n.*545A>G)
c.1027A>G (p.Ile343Val)
11g.128810782A>TCA383239164FLI1c.1174A>T (p.Ile392Phe)
c.1153A>T (p.Ile385Phe)
c.955A>T (p.Ile319Phe)
c.574A>T (p.Ile192Phe)
c.*1075A>T (n.*1075A>T)
n.3736A>T
c.1054A>T (p.Ile352Phe)
c.*545A>T (n.*545A>T)
c.1027A>T (p.Ile343Phe)
11g.128810783T>ACA383239167FLI1c.1175T>A (p.Ile392Asn)
c.1154T>A (p.Ile385Asn)
c.956T>A (p.Ile319Asn)
c.575T>A (p.Ile192Asn)
c.*1076T>A (n.*1076T>A)
n.3737T>A
c.1055T>A (p.Ile352Asn)
c.*546T>A (n.*546T>A)
c.1028T>A (p.Ile343Asn)
11g.128810783T>CCA230605084FLI1c.1175T>C (p.Ile392Thr)
c.1154T>C (p.Ile385Thr)
c.956T>C (p.Ile319Thr)
c.575T>C (p.Ile192Thr)
c.*1076T>C (n.*1076T>C)
n.3737T>C
c.1055T>C (p.Ile352Thr)
c.*546T>C (n.*546T>C)
c.1028T>C (p.Ile343Thr)
 dbSNP
11g.128810783T>GCA383239168FLI1c.1175T>G (p.Ile392Ser)
c.1154T>G (p.Ile385Ser)
c.956T>G (p.Ile319Ser)
c.575T>G (p.Ile192Ser)
c.*1076T>G (n.*1076T>G)
n.3737T>G
c.1055T>G (p.Ile352Ser)
c.*546T>G (n.*546T>G)
c.1028T>G (p.Ile343Ser)
11g.128810783T=CA2008248597FLI1c.1175T= (p.Ile392=)
c.1154T= (p.Ile385=)
c.956T= (p.Ile319=)
c.575T= (p.Ile192=)
c.*1076T= (n.*1076T=)
n.3737T=
c.1055T= (p.Ile352=)
c.*546T= (n.*546T=)
c.1028T= (p.Ile343=)
11g.128810783_128810786delinsTCTCCA2008248595FLI1c.1175_1178delinsTCTC (p.Ile392=)
c.1154_1157delinsTCTC (p.Ile385=)
c.956_959delinsTCTC (p.Ile319=)
c.575_578delinsTCTC (p.Ile192=)
c.*1076_*1079delinsTCTC (n.*1076_*1079delinsTCTC)
n.3737_3740delinsTCTC
c.1055_1058delinsTCTC (p.Ile352=)
c.*546_*549delinsTCTC (n.*546_*549delinsTCTC)
c.1028_1031delinsTCTC (p.Ile343=)
11g.128810784C>ACA477702711FLI1c.1176C>A (p.Ile392=)
c.1155C>A (p.Ile385=)
c.957C>A (p.Ile319=)
c.576C>A (p.Ile192=)
c.*1077C>A (n.*1077C>A)
n.3738C>A
c.1056C>A (p.Ile352=)
c.*547C>A (n.*547C>A)
c.1029C>A (p.Ile343=)
11g.128810784C>GCA383239169FLI1c.1176C>G (p.Ile392Met)
c.1155C>G (p.Ile385Met)
c.957C>G (p.Ile319Met)
c.576C>G (p.Ile192Met)
c.*1077C>G (n.*1077C>G)
n.3738C>G
c.1056C>G (p.Ile352Met)
c.*547C>G (n.*547C>G)
c.1029C>G (p.Ile343Met)
11g.128810784C>TCA477702713FLI1c.1176C>T (p.Ile392=)
c.1155C>T (p.Ile385=)
c.957C>T (p.Ile319=)
c.576C>T (p.Ile192=)
c.*1077C>T (n.*1077C>T)
n.3738C>T
c.1056C>T (p.Ile352=)
c.*547C>T (n.*547C>T)
c.1029C>T (p.Ile343=)
 gnomAD v4
11g.128810786_128810788delCA602585819FLI1c.1178_1180del (p.Ser393del)
c.1157_1159del (p.Ser386del)
c.959_961del (p.Ser320del)
c.578_580del (p.Ser193del)
c.*1079_*1081del (n.*1079_*1081del)
n.3740_3742del
c.1058_1060del (p.Ser353del)
c.*549_*551del (n.*549_*551del)
c.1031_1033del (p.Ser344del)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.128810785T>ACA383239170FLI1c.1177T>A (p.Ser393Thr)
c.1156T>A (p.Ser386Thr)
c.958T>A (p.Ser320Thr)
c.577T>A (p.Ser193Thr)
c.*1078T>A (n.*1078T>A)
n.3739T>A
c.1057T>A (p.Ser353Thr)
c.*548T>A (n.*548T>A)
c.1030T>A (p.Ser344Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.128810785T>CCA383239171FLI1c.1177T>C (p.Ser393Pro)
c.1156T>C (p.Ser386Pro)
c.958T>C (p.Ser320Pro)
c.577T>C (p.Ser193Pro)
c.*1078T>C (n.*1078T>C)
n.3739T>C
c.1057T>C (p.Ser353Pro)
c.*548T>C (n.*548T>C)
c.1030T>C (p.Ser344Pro)
11g.128810785T>GCA383239172FLI1c.1177T>G (p.Ser393Ala)
c.1156T>G (p.Ser386Ala)
c.958T>G (p.Ser320Ala)
c.577T>G (p.Ser193Ala)
c.*1078T>G (n.*1078T>G)
n.3739T>G
c.1057T>G (p.Ser353Ala)
c.*548T>G (n.*548T>G)
c.1030T>G (p.Ser344Ala)
11g.128810785T=CA2008248602FLI1c.1177T= (p.Ser393=)
c.1156T= (p.Ser386=)
c.958T= (p.Ser320=)
c.577T= (p.Ser193=)
c.*1078T= (n.*1078T=)
n.3739T=
c.1057T= (p.Ser353=)
c.*548T= (n.*548T=)
c.1030T= (p.Ser344=)
11g.128810786C>ACA383239173FLI1c.1178C>A (p.Ser393Tyr)
c.1157C>A (p.Ser386Tyr)
c.959C>A (p.Ser320Tyr)
c.578C>A (p.Ser193Tyr)
c.*1079C>A (n.*1079C>A)
n.3740C>A
c.1058C>A (p.Ser353Tyr)
c.*549C>A (n.*549C>A)
c.1031C>A (p.Ser344Tyr)
11g.128810786C>GCA383239175FLI1c.1178C>G (p.Ser393Cys)
c.1157C>G (p.Ser386Cys)
c.959C>G (p.Ser320Cys)
c.578C>G (p.Ser193Cys)
c.*1079C>G (n.*1079C>G)
n.3740C>G
c.1058C>G (p.Ser353Cys)
c.*549C>G (n.*549C>G)
c.1031C>G (p.Ser344Cys)
11g.128810786C>TCA383239174FLI1c.1178C>T (p.Ser393Phe)
c.1157C>T (p.Ser386Phe)
c.959C>T (p.Ser320Phe)
c.578C>T (p.Ser193Phe)
c.*1079C>T (n.*1079C>T)
n.3740C>T
c.1058C>T (p.Ser353Phe)
c.*549C>T (n.*549C>T)
c.1031C>T (p.Ser344Phe)
11g.128810787C>ACA477702715FLI1c.1179C>A (p.Ser393=)
c.1158C>A (p.Ser386=)
c.960C>A (p.Ser320=)
c.579C>A (p.Ser193=)
c.*1080C>A (n.*1080C>A)
n.3741C>A
c.1059C>A (p.Ser353=)
c.*550C>A (n.*550C>A)
c.1032C>A (p.Ser344=)
 dbSNP
11g.128810787C=CA2008248606FLI1c.1179C= (p.Ser393=)
c.1158C= (p.Ser386=)
c.960C= (p.Ser320=)
c.579C= (p.Ser193=)
c.*1080C= (n.*1080C=)
n.3741C=
c.1059C= (p.Ser353=)
c.*550C= (n.*550C=)
c.1032C= (p.Ser344=)
11g.128810787C>GCA477702717FLI1c.1179C>G (p.Ser393=)
c.1158C>G (p.Ser386=)
c.960C>G (p.Ser320=)
c.579C>G (p.Ser193=)
c.*1080C>G (n.*1080C>G)
n.3741C>G
c.1059C>G (p.Ser353=)
c.*550C>G (n.*550C>G)
c.1032C>G (p.Ser344=)
11g.128810787C>TCA230605090FLI1c.1179C>T (p.Ser393=)
c.1158C>T (p.Ser386=)
c.960C>T (p.Ser320=)
c.579C>T (p.Ser193=)
c.*1080C>T (n.*1080C>T)
n.3741C>T
c.1059C>T (p.Ser353=)
c.*550C>T (n.*550C>T)
c.1032C>T (p.Ser344=)
 dbSNP gnomAD v3 gnomAD v4
11g.128810788T>ACA383239176FLI1c.1180T>A (p.Tyr394Asn)
c.1159T>A (p.Tyr387Asn)
c.961T>A (p.Tyr321Asn)
c.580T>A (p.Tyr194Asn)
c.*1081T>A (n.*1081T>A)
n.3742T>A
c.1060T>A (p.Tyr354Asn)
c.*551T>A (n.*551T>A)
c.1033T>A (p.Tyr345Asn)
11g.128810788T>CCA383239177FLI1c.1180T>C (p.Tyr394His)
c.1159T>C (p.Tyr387His)
c.961T>C (p.Tyr321His)
c.580T>C (p.Tyr194His)
c.*1081T>C (n.*1081T>C)
n.3742T>C
c.1060T>C (p.Tyr354His)
c.*551T>C (n.*551T>C)
c.1033T>C (p.Tyr345His)
11g.128810788T>GCA383239178FLI1c.1180T>G (p.Tyr394Asp)
c.1159T>G (p.Tyr387Asp)
c.961T>G (p.Tyr321Asp)
c.580T>G (p.Tyr194Asp)
c.*1081T>G (n.*1081T>G)
n.3742T>G
c.1060T>G (p.Tyr354Asp)
c.*551T>G (n.*551T>G)
c.1033T>G (p.Tyr345Asp)
11g.128810789A=CA2008248610FLI1c.1181A= (p.Tyr394=)
c.1160A= (p.Tyr387=)
c.962A= (p.Tyr321=)
c.581A= (p.Tyr194=)
c.*1082A= (n.*1082A=)
n.3743A=
c.1061A= (p.Tyr354=)
c.*552A= (n.*552A=)
c.1034A= (p.Tyr345=)
11g.128810789A>CCA383239179FLI1c.1181A>C (p.Tyr394Ser)
c.1160A>C (p.Tyr387Ser)
c.962A>C (p.Tyr321Ser)
c.581A>C (p.Tyr194Ser)
c.*1082A>C (n.*1082A>C)
n.3743A>C
c.1061A>C (p.Tyr354Ser)
c.*552A>C (n.*552A>C)
c.1034A>C (p.Tyr345Ser)
11g.128810789A>GCA230605104FLI1c.1181A>G (p.Tyr394Cys)
c.1160A>G (p.Tyr387Cys)
c.962A>G (p.Tyr321Cys)
c.581A>G (p.Tyr194Cys)
c.*1082A>G (n.*1082A>G)
n.3743A>G
c.1061A>G (p.Tyr354Cys)
c.*552A>G (n.*552A>G)
c.1034A>G (p.Tyr345Cys)
 dbSNP
11g.128810789A>TCA383239180FLI1c.1181A>T (p.Tyr394Phe)
c.1160A>T (p.Tyr387Phe)
c.962A>T (p.Tyr321Phe)
c.581A>T (p.Tyr194Phe)
c.*1082A>T (n.*1082A>T)
n.3743A>T
c.1061A>T (p.Tyr354Phe)
c.*552A>T (n.*552A>T)
c.1034A>T (p.Tyr345Phe)
11g.128810790C>ACA383239181FLI1c.1182C>A (p.Tyr394Ter)
c.1161C>A (p.Tyr387Ter)
c.963C>A (p.Tyr321Ter)
c.582C>A (p.Tyr194Ter)
c.*1083C>A (n.*1083C>A)
n.3744C>A
c.1062C>A (p.Tyr354Ter)
c.*553C>A (n.*553C>A)
c.1035C>A (p.Tyr345Ter)
 dbSNP
11g.128810790C=CA2008248613FLI1c.1182C= (p.Tyr394=)
c.1161C= (p.Tyr387=)
c.963C= (p.Tyr321=)
c.582C= (p.Tyr194=)
c.*1083C= (n.*1083C=)
n.3744C=
c.1062C= (p.Tyr354=)
c.*553C= (n.*553C=)
c.1035C= (p.Tyr345=)
11g.128810790C>GCA383239182FLI1c.1182C>G (p.Tyr394Ter)
c.1161C>G (p.Tyr387Ter)
c.963C>G (p.Tyr321Ter)
c.582C>G (p.Tyr194Ter)
c.*1083C>G (n.*1083C>G)
n.3744C>G
c.1062C>G (p.Tyr354Ter)
c.*553C>G (n.*553C>G)
c.1035C>G (p.Tyr345Ter)
11g.128810790C>TCA477702720FLI1c.1182C>T (p.Tyr394=)
c.1161C>T (p.Tyr387=)
c.963C>T (p.Tyr321=)
c.582C>T (p.Tyr194=)
c.*1083C>T (n.*1083C>T)
n.3744C>T
c.1062C>T (p.Tyr354=)
c.*553C>T (n.*553C>T)
c.1035C>T (p.Tyr345=)
 dbSNP gnomAD v2 gnomAD v4
11g.128810791A=CA2008248617FLI1c.1183A= (p.Met395=)
c.1162A= (p.Met388=)
c.964A= (p.Met322=)
c.583A= (p.Met195=)
c.*1084A= (n.*1084A=)
n.3745A=
c.1063A= (p.Met355=)
c.*554A= (n.*554A=)
c.1036A= (p.Met346=)
11g.128810791A>CCA383239183FLI1c.1183A>C (p.Met395Leu)
c.1162A>C (p.Met388Leu)
c.964A>C (p.Met322Leu)
c.583A>C (p.Met195Leu)
c.*1084A>C (n.*1084A>C)
n.3745A>C
c.1063A>C (p.Met355Leu)
c.*554A>C (n.*554A>C)
c.1036A>C (p.Met346Leu)
11g.128810791A>GCA383239184FLI1c.1183A>G (p.Met395Val)
c.1162A>G (p.Met388Val)
c.964A>G (p.Met322Val)
c.583A>G (p.Met195Val)
c.*1084A>G (n.*1084A>G)
n.3745A>G
c.1063A>G (p.Met355Val)
c.*554A>G (n.*554A>G)
c.1036A>G (p.Met346Val)
 dbSNP gnomAD v2 gnomAD v4
11g.128810791A>TCA383239185FLI1c.1183A>T (p.Met395Leu)
c.1162A>T (p.Met388Leu)
c.964A>T (p.Met322Leu)
c.583A>T (p.Met195Leu)
c.*1084A>T (n.*1084A>T)
n.3745A>T
c.1063A>T (p.Met355Leu)
c.*554A>T (n.*554A>T)
c.1036A>T (p.Met346Leu)
11g.128810792T>ACA383239186FLI1c.1184T>A (p.Met395Lys)
c.1163T>A (p.Met388Lys)
c.965T>A (p.Met322Lys)
c.584T>A (p.Met195Lys)
c.*1085T>A (n.*1085T>A)
n.3746T>A
c.1064T>A (p.Met355Lys)
c.*555T>A (n.*555T>A)
c.1037T>A (p.Met346Lys)
11g.128810792T>CCA383239187FLI1c.1184T>C (p.Met395Thr)
c.1163T>C (p.Met388Thr)
c.965T>C (p.Met322Thr)
c.584T>C (p.Met195Thr)
c.*1085T>C (n.*1085T>C)
n.3746T>C
c.1064T>C (p.Met355Thr)
c.*555T>C (n.*555T>C)
c.1037T>C (p.Met346Thr)
 gnomAD v4
11g.128810792T>GCA383239188FLI1c.1184T>G (p.Met395Arg)
c.1163T>G (p.Met388Arg)
c.965T>G (p.Met322Arg)
c.584T>G (p.Met195Arg)
c.*1085T>G (n.*1085T>G)
n.3746T>G
c.1064T>G (p.Met355Arg)
c.*555T>G (n.*555T>G)
c.1037T>G (p.Met346Arg)
11g.128810793G>ACA383239189FLI1c.1185G>A (p.Met395Ile)
c.1164G>A (p.Met388Ile)
c.966G>A (p.Met322Ile)
c.585G>A (p.Met195Ile)
c.*1086G>A (n.*1086G>A)
n.3747G>A
c.1065G>A (p.Met355Ile)
c.*556G>A (n.*556G>A)
c.1038G>A (p.Met346Ile)
11g.128810793G>CCA383239190FLI1c.1185G>C (p.Met395Ile)
c.1164G>C (p.Met388Ile)
c.966G>C (p.Met322Ile)
c.585G>C (p.Met195Ile)
c.*1086G>C (n.*1086G>C)
n.3747G>C
c.1065G>C (p.Met355Ile)
c.*556G>C (n.*556G>C)
c.1038G>C (p.Met346Ile)
11g.128810793G>TCA383239191FLI1c.1185G>T (p.Met395Ile)
c.1164G>T (p.Met388Ile)
c.966G>T (p.Met322Ile)
c.585G>T (p.Met195Ile)
c.*1086G>T (n.*1086G>T)
n.3747G>T
c.1065G>T (p.Met355Ile)
c.*556G>T (n.*556G>T)
c.1038G>T (p.Met346Ile)
11g.128810794C>ACA383239194FLI1c.1186C>A (p.Pro396Thr)
c.1165C>A (p.Pro389Thr)
c.967C>A (p.Pro323Thr)
c.586C>A (p.Pro196Thr)
c.*1087C>A (n.*1087C>A)
n.3748C>A
c.1066C>A (p.Pro356Thr)
c.*557C>A (n.*557C>A)
c.1039C>A (p.Pro347Thr)
 dbSNP gnomAD v3 gnomAD v4
11g.128810794C=CA2008248620FLI1c.1186C= (p.Pro396=)
c.1165C= (p.Pro389=)
c.967C= (p.Pro323=)
c.586C= (p.Pro196=)
c.*1087C= (n.*1087C=)
n.3748C=
c.1066C= (p.Pro356=)
c.*557C= (n.*557C=)
c.1039C= (p.Pro347=)
11g.128810794C>GCA383239193FLI1c.1186C>G (p.Pro396Ala)
c.1165C>G (p.Pro389Ala)
c.967C>G (p.Pro323Ala)
c.586C>G (p.Pro196Ala)
c.*1087C>G (n.*1087C>G)
n.3748C>G
c.1066C>G (p.Pro356Ala)
c.*557C>G (n.*557C>G)
c.1039C>G (p.Pro347Ala)
11g.128810794C>TCA383239192FLI1c.1186C>T (p.Pro396Ser)
c.1165C>T (p.Pro389Ser)
c.967C>T (p.Pro323Ser)
c.586C>T (p.Pro196Ser)
c.*1087C>T (n.*1087C>T)
n.3748C>T
c.1066C>T (p.Pro356Ser)
c.*557C>T (n.*557C>T)
c.1039C>T (p.Pro347Ser)
 dbSNP gnomAD v2 gnomAD v4
11g.128810795C>ACA383239195FLI1c.1187C>A (p.Pro396His)
c.1166C>A (p.Pro389His)
c.968C>A (p.Pro323His)
c.587C>A (p.Pro196His)
c.*1088C>A (n.*1088C>A)
n.3749C>A
c.1067C>A (p.Pro356His)
c.*558C>A (n.*558C>A)
c.1040C>A (p.Pro347His)
11g.128810795C>GCA383239197FLI1c.1187C>G (p.Pro396Arg)
c.1166C>G (p.Pro389Arg)
c.968C>G (p.Pro323Arg)
c.587C>G (p.Pro196Arg)
c.*1088C>G (n.*1088C>G)
n.3749C>G
c.1067C>G (p.Pro356Arg)
c.*558C>G (n.*558C>G)
c.1040C>G (p.Pro347Arg)
11g.128810795C>TCA383239196FLI1c.1187C>T (p.Pro396Leu)
c.1166C>T (p.Pro389Leu)
c.968C>T (p.Pro323Leu)
c.587C>T (p.Pro196Leu)
c.*1088C>T (n.*1088C>T)
n.3749C>T
c.1067C>T (p.Pro356Leu)
c.*558C>T (n.*558C>T)
c.1040C>T (p.Pro347Leu)
11g.128810796T>ACA477702723FLI1c.1188T>A (p.Pro396=)
c.1167T>A (p.Pro389=)
c.969T>A (p.Pro323=)
c.588T>A (p.Pro196=)
c.*1089T>A (n.*1089T>A)
n.3750T>A
c.1068T>A (p.Pro356=)
c.*559T>A (n.*559T>A)
c.1041T>A (p.Pro347=)
 dbSNP
11g.128810796T>CCA477702724FLI1c.1188T>C (p.Pro396=)
c.1167T>C (p.Pro389=)
c.969T>C (p.Pro323=)
c.588T>C (p.Pro196=)
c.*1089T>C (n.*1089T>C)
n.3750T>C
c.1068T>C (p.Pro356=)
c.*559T>C (n.*559T>C)
c.1041T>C (p.Pro347=)
11g.128810796T>GCA477702725FLI1c.1188T>G (p.Pro396=)
c.1167T>G (p.Pro389=)
c.969T>G (p.Pro323=)
c.588T>G (p.Pro196=)
c.*1089T>G (n.*1089T>G)
n.3750T>G
c.1068T>G (p.Pro356=)
c.*559T>G (n.*559T>G)
c.1041T>G (p.Pro347=)
11g.128810797T>ACA383239198FLI1c.1189T>A (p.Ser397Thr)
c.1168T>A (p.Ser390Thr)
c.970T>A (p.Ser324Thr)
c.589T>A (p.Ser197Thr)
c.*1090T>A (n.*1090T>A)
n.3751T>A
c.1069T>A (p.Ser357Thr)
c.*560T>A (n.*560T>A)
c.1042T>A (p.Ser348Thr)
11g.128810797T>CCA383239199FLI1c.1189T>C (p.Ser397Pro)
c.1168T>C (p.Ser390Pro)
c.970T>C (p.Ser324Pro)
c.589T>C (p.Ser197Pro)
c.*1090T>C (n.*1090T>C)
n.3751T>C
c.1069T>C (p.Ser357Pro)
c.*560T>C (n.*560T>C)
c.1042T>C (p.Ser348Pro)
 gnomAD v4
11g.128810797T>GCA383239200FLI1c.1189T>G (p.Ser397Ala)
c.1168T>G (p.Ser390Ala)
c.970T>G (p.Ser324Ala)
c.589T>G (p.Ser197Ala)
c.*1090T>G (n.*1090T>G)
n.3751T>G
c.1069T>G (p.Ser357Ala)
c.*560T>G (n.*560T>G)
c.1042T>G (p.Ser348Ala)
11g.128810798C>ACA383239201FLI1c.1190C>A (p.Ser397Tyr)
c.1169C>A (p.Ser390Tyr)
c.971C>A (p.Ser324Tyr)
c.590C>A (p.Ser197Tyr)
c.*1091C>A (n.*1091C>A)
n.3752C>A
c.1070C>A (p.Ser357Tyr)
c.*561C>A (n.*561C>A)
c.1043C>A (p.Ser348Tyr)
11g.128810798C>GCA383239202FLI1c.1190C>G (p.Ser397Cys)
c.1169C>G (p.Ser390Cys)
c.971C>G (p.Ser324Cys)
c.590C>G (p.Ser197Cys)
c.*1091C>G (n.*1091C>G)
n.3752C>G
c.1070C>G (p.Ser357Cys)
c.*561C>G (n.*561C>G)
c.1043C>G (p.Ser348Cys)
11g.128810798C>TCA383239203FLI1c.1190C>T (p.Ser397Phe)
c.1169C>T (p.Ser390Phe)
c.971C>T (p.Ser324Phe)
c.590C>T (p.Ser197Phe)
c.*1091C>T (n.*1091C>T)
n.3752C>T
c.1070C>T (p.Ser357Phe)
c.*561C>T (n.*561C>T)
c.1043C>T (p.Ser348Phe)
 COSMIC
11g.128810799C>ACA477702727FLI1c.1191C>A (p.Ser397=)
c.1170C>A (p.Ser390=)
c.972C>A (p.Ser324=)
c.591C>A (p.Ser197=)
c.*1092C>A (n.*1092C>A)
n.3753C>A
c.1071C>A (p.Ser357=)
c.*562C>A (n.*562C>A)
c.1044C>A (p.Ser348=)
11g.128810799C>GCA477702728FLI1c.1191C>G (p.Ser397=)
c.1170C>G (p.Ser390=)
c.972C>G (p.Ser324=)
c.591C>G (p.Ser197=)
c.*1092C>G (n.*1092C>G)
n.3753C>G
c.1071C>G (p.Ser357=)
c.*562C>G (n.*562C>G)
c.1044C>G (p.Ser348=)
11g.128810799C>TCA477702729FLI1c.1191C>T (p.Ser397=)
c.1170C>T (p.Ser390=)
c.972C>T (p.Ser324=)
c.591C>T (p.Ser197=)
c.*1092C>T (n.*1092C>T)
n.3753C>T
c.1071C>T (p.Ser357=)
c.*562C>T (n.*562C>T)
c.1044C>T (p.Ser348=)
 dbSNP gnomAD v4
11g.128810800T>ACA383239204FLI1c.1192T>A (p.Tyr398Asn)
c.1171T>A (p.Tyr391Asn)
c.973T>A (p.Tyr325Asn)
c.592T>A (p.Tyr198Asn)
c.*1093T>A (n.*1093T>A)
n.3754T>A
c.1072T>A (p.Tyr358Asn)
c.*563T>A (n.*563T>A)
c.1045T>A (p.Tyr349Asn)
11g.128810800T>CCA230605110FLI1c.1192T>C (p.Tyr398His)
c.1171T>C (p.Tyr391His)
c.973T>C (p.Tyr325His)
c.592T>C (p.Tyr198His)
c.*1093T>C (n.*1093T>C)
n.3754T>C
c.1072T>C (p.Tyr358His)
c.*563T>C (n.*563T>C)
c.1045T>C (p.Tyr349His)
 dbSNP
11g.128810800T>GCA383239205FLI1c.1192T>G (p.Tyr398Asp)
c.1171T>G (p.Tyr391Asp)
c.973T>G (p.Tyr325Asp)
c.592T>G (p.Tyr198Asp)
c.*1093T>G (n.*1093T>G)
n.3754T>G
c.1072T>G (p.Tyr358Asp)
c.*563T>G (n.*563T>G)
c.1045T>G (p.Tyr349Asp)
11g.128810800T=CA2008248625FLI1c.1192T= (p.Tyr398=)
c.1171T= (p.Tyr391=)
c.973T= (p.Tyr325=)
c.592T= (p.Tyr198=)
c.*1093T= (n.*1093T=)
n.3754T=
c.1072T= (p.Tyr358=)
c.*563T= (n.*563T=)
c.1045T= (p.Tyr349=)
11g.128810801A>CCA383239206FLI1c.1193A>C (p.Tyr398Ser)
c.1172A>C (p.Tyr391Ser)
c.974A>C (p.Tyr325Ser)
c.593A>C (p.Tyr198Ser)
c.*1094A>C (n.*1094A>C)
n.3755A>C
c.1073A>C (p.Tyr358Ser)
c.*564A>C (n.*564A>C)
c.1046A>C (p.Tyr349Ser)
11g.128810801A>GCA383239207FLI1c.1193A>G (p.Tyr398Cys)
c.1172A>G (p.Tyr391Cys)
c.974A>G (p.Tyr325Cys)
c.593A>G (p.Tyr198Cys)
c.*1094A>G (n.*1094A>G)
n.3755A>G
c.1073A>G (p.Tyr358Cys)
c.*564A>G (n.*564A>G)
c.1046A>G (p.Tyr349Cys)
11g.128810801A>TCA383239208FLI1c.1193A>T (p.Tyr398Phe)
c.1172A>T (p.Tyr391Phe)
c.974A>T (p.Tyr325Phe)
c.593A>T (p.Tyr198Phe)
c.*1094A>T (n.*1094A>T)
n.3755A>T
c.1073A>T (p.Tyr358Phe)
c.*564A>T (n.*564A>T)
c.1046A>T (p.Tyr349Phe)
11g.128810802C>ACA383239210FLI1c.1194C>A (p.Tyr398Ter)
c.1173C>A (p.Tyr391Ter)
c.975C>A (p.Tyr325Ter)
c.594C>A (p.Tyr198Ter)
c.*1095C>A (n.*1095C>A)
n.3756C>A
c.1074C>A (p.Tyr358Ter)
c.*565C>A (n.*565C>A)
c.1047C>A (p.Tyr349Ter)
11g.128810802C=CA2008248631FLI1c.1194C= (p.Tyr398=)
c.1173C= (p.Tyr391=)
c.975C= (p.Tyr325=)
c.594C= (p.Tyr198=)
c.*1095C= (n.*1095C=)
n.3756C=
c.1074C= (p.Tyr358=)
c.*565C= (n.*565C=)
c.1047C= (p.Tyr349=)
11g.128810802C>GCA383239209FLI1c.1194C>G (p.Tyr398Ter)
c.1173C>G (p.Tyr391Ter)
c.975C>G (p.Tyr325Ter)
c.594C>G (p.Tyr198Ter)
c.*1095C>G (n.*1095C>G)
n.3756C>G
c.1074C>G (p.Tyr358Ter)
c.*565C>G (n.*565C>G)
c.1047C>G (p.Tyr349Ter)
11g.128810802C>TCA6357319FLI1c.1194C>T (p.Tyr398=)
c.1173C>T (p.Tyr391=)
c.975C>T (p.Tyr325=)
c.594C>T (p.Tyr198=)
c.*1095C>T (n.*1095C>T)
n.3756C>T
c.1074C>T (p.Tyr358=)
c.*565C>T (n.*565C>T)
c.1047C>T (p.Tyr349=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.128810803C>ACA383239211FLI1c.1195C>A (p.His399Asn)
c.1174C>A (p.His392Asn)
c.976C>A (p.His326Asn)
c.595C>A (p.His199Asn)
c.*1096C>A (n.*1096C>A)
n.3757C>A
c.1075C>A (p.His359Asn)
c.*566C>A (n.*566C>A)
c.1048C>A (p.His350Asn)
 gnomAD v4
11g.128810803C>GCA383239212FLI1c.1195C>G (p.His399Asp)
c.1174C>G (p.His392Asp)
c.976C>G (p.His326Asp)
c.595C>G (p.His199Asp)
c.*1096C>G (n.*1096C>G)
n.3757C>G
c.1075C>G (p.His359Asp)
c.*566C>G (n.*566C>G)
c.1048C>G (p.His350Asp)
11g.128810803C>TCA383239213FLI1c.1195C>T (p.His399Tyr)
c.1174C>T (p.His392Tyr)
c.976C>T (p.His326Tyr)
c.595C>T (p.His199Tyr)
c.*1096C>T (n.*1096C>T)
n.3757C>T
c.1075C>T (p.His359Tyr)
c.*566C>T (n.*566C>T)
c.1048C>T (p.His350Tyr)
11g.128810804A=CA2008248635FLI1c.1196A= (p.His399=)
c.1175A= (p.His392=)
c.977A= (p.His326=)
c.596A= (p.His199=)
c.*1097A= (n.*1097A=)
n.3758A=
c.1076A= (p.His359=)
c.*567A= (n.*567A=)
c.1049A= (p.His350=)
11g.128810804A>CCA383239214FLI1c.1196A>C (p.His399Pro)
c.1175A>C (p.His392Pro)
c.977A>C (p.His326Pro)
c.596A>C (p.His199Pro)
c.*1097A>C (n.*1097A>C)
n.3758A>C
c.1076A>C (p.His359Pro)
c.*567A>C (n.*567A>C)
c.1049A>C (p.His350Pro)
11g.128810804A>GCA383239215FLI1c.1196A>G (p.His399Arg)
c.1175A>G (p.His392Arg)
c.977A>G (p.His326Arg)
c.596A>G (p.His199Arg)
c.*1097A>G (n.*1097A>G)
n.3758A>G
c.1076A>G (p.His359Arg)
c.*567A>G (n.*567A>G)
c.1049A>G (p.His350Arg)
 dbSNP gnomAD v4
11g.128810804A>TCA383239216FLI1c.1196A>T (p.His399Leu)
c.1175A>T (p.His392Leu)
c.977A>T (p.His326Leu)
c.596A>T (p.His199Leu)
c.*1097A>T (n.*1097A>T)
n.3758A>T
c.1076A>T (p.His359Leu)
c.*567A>T (n.*567A>T)
c.1049A>T (p.His350Leu)
 dbSNP gnomAD v3 gnomAD v4
11g.128810805T>ACA383239217FLI1c.1197T>A (p.His399Gln)
c.1176T>A (p.His392Gln)
c.978T>A (p.His326Gln)
c.597T>A (p.His199Gln)
c.*1098T>A (n.*1098T>A)
n.3759T>A
c.1077T>A (p.His359Gln)
c.*568T>A (n.*568T>A)
c.1050T>A (p.His350Gln)
11g.128810805T>CCA230605129FLI1c.1197T>C (p.His399=)
c.1176T>C (p.His392=)
c.978T>C (p.His326=)
c.597T>C (p.His199=)
c.*1098T>C (n.*1098T>C)
n.3759T>C
c.1077T>C (p.His359=)
c.*568T>C (n.*568T>C)
c.1050T>C (p.His350=)
 dbSNP gnomAD v2 gnomAD v4
11g.128810805T>GCA383239218FLI1c.1197T>G (p.His399Gln)
c.1176T>G (p.His392Gln)
c.978T>G (p.His326Gln)
c.597T>G (p.His199Gln)
c.*1098T>G (n.*1098T>G)
n.3759T>G
c.1077T>G (p.His359Gln)
c.*568T>G (n.*568T>G)
c.1050T>G (p.His350Gln)
11g.128810805T=CA2008248638FLI1c.1197T= (p.His399=)
c.1176T= (p.His392=)
c.978T= (p.His326=)
c.597T= (p.His199=)
c.*1098T= (n.*1098T=)
n.3759T=
c.1077T= (p.His359=)
c.*568T= (n.*568T=)
c.1050T= (p.His350=)
11g.128810806G>ACA6357320FLI1c.1198G>A (p.Ala400Thr)
c.1177G>A (p.Ala393Thr)
c.979G>A (p.Ala327Thr)
c.598G>A (p.Ala200Thr)
c.*1099G>A (n.*1099G>A)
n.3760G>A
c.1078G>A (p.Ala360Thr)
c.*569G>A (n.*569G>A)
c.1051G>A (p.Ala351Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.128810806G>CCA383239219FLI1c.1198G>C (p.Ala400Pro)
c.1177G>C (p.Ala393Pro)
c.979G>C (p.Ala327Pro)
c.598G>C (p.Ala200Pro)
c.*1099G>C (n.*1099G>C)
n.3760G>C
c.1078G>C (p.Ala360Pro)
c.*569G>C (n.*569G>C)
c.1051G>C (p.Ala351Pro)
11g.128810806G=CA2008248645FLI1c.1198G= (p.Ala400=)
c.1177G= (p.Ala393=)
c.979G= (p.Ala327=)
c.598G= (p.Ala200=)
c.*1099G= (n.*1099G=)
n.3760G=
c.1078G= (p.Ala360=)
c.*569G= (n.*569G=)
c.1051G= (p.Ala351=)
11g.128810806G>TCA383239220FLI1c.1198G>T (p.Ala400Ser)
c.1177G>T (p.Ala393Ser)
c.979G>T (p.Ala327Ser)
c.598G>T (p.Ala200Ser)
c.*1099G>T (n.*1099G>T)
n.3760G>T
c.1078G>T (p.Ala360Ser)
c.*569G>T (n.*569G>T)
c.1051G>T (p.Ala351Ser)
11g.128810807C>ACA383239223FLI1c.1199C>A (p.Ala400Asp)
c.1178C>A (p.Ala393Asp)
c.980C>A (p.Ala327Asp)
c.599C>A (p.Ala200Asp)
c.*1100C>A (n.*1100C>A)
n.3761C>A
c.1079C>A (p.Ala360Asp)
c.*570C>A (n.*570C>A)
c.1052C>A (p.Ala351Asp)
11g.128810807C=CA2008248649FLI1c.1199C= (p.Ala400=)
c.1178C= (p.Ala393=)
c.980C= (p.Ala327=)
c.599C= (p.Ala200=)
c.*1100C= (n.*1100C=)
n.3761C=
c.1079C= (p.Ala360=)
c.*570C= (n.*570C=)
c.1052C= (p.Ala351=)
11g.128810807C>GCA383239222FLI1c.1199C>G (p.Ala400Gly)
c.1178C>G (p.Ala393Gly)
c.980C>G (p.Ala327Gly)
c.599C>G (p.Ala200Gly)
c.*1100C>G (n.*1100C>G)
n.3761C>G
c.1079C>G (p.Ala360Gly)
c.*570C>G (n.*570C>G)
c.1052C>G (p.Ala351Gly)
11g.128810807C>TCA383239221FLI1c.1199C>T (p.Ala400Val)
c.1178C>T (p.Ala393Val)
c.980C>T (p.Ala327Val)
c.599C>T (p.Ala200Val)
c.*1100C>T (n.*1100C>T)
n.3761C>T
c.1079C>T (p.Ala360Val)
c.*570C>T (n.*570C>T)
c.1052C>T (p.Ala351Val)
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.128810808C>ACA477702734FLI1c.1200C>A (p.Ala400=)
c.1179C>A (p.Ala393=)
c.981C>A (p.Ala327=)
c.600C>A (p.Ala200=)
c.*1101C>A (n.*1101C>A)
n.3762C>A
c.1080C>A (p.Ala360=)
c.*571C>A (n.*571C>A)
c.1053C>A (p.Ala351=)
11g.128810808C=CA2008248654FLI1c.1200C= (p.Ala400=)
c.1179C= (p.Ala393=)
c.981C= (p.Ala327=)
c.600C= (p.Ala200=)
c.*1101C= (n.*1101C=)
n.3762C=
c.1080C= (p.Ala360=)
c.*571C= (n.*571C=)
c.1053C= (p.Ala351=)
11g.128810808C>GCA477702735FLI1c.1200C>G (p.Ala400=)
c.1179C>G (p.Ala393=)
c.981C>G (p.Ala327=)
c.600C>G (p.Ala200=)
c.*1101C>G (n.*1101C>G)
n.3762C>G
c.1080C>G (p.Ala360=)
c.*571C>G (n.*571C>G)
c.1053C>G (p.Ala351=)
11g.128810808C>TCA6357321FLI1c.1200C>T (p.Ala400=)
c.1179C>T (p.Ala393=)
c.981C>T (p.Ala327=)
c.600C>T (p.Ala200=)
c.*1101C>T (n.*1101C>T)
n.3762C>T
c.1080C>T (p.Ala360=)
c.*571C>T (n.*571C>T)
c.1053C>T (p.Ala351=)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.128810809C>ACA383239224FLI1c.1201C>A (p.His401Asn)
c.1180C>A (p.His394Asn)
c.982C>A (p.His328Asn)
c.601C>A (p.His201Asn)
c.*1102C>A (n.*1102C>A)
n.3763C>A
c.1081C>A (p.His361Asn)
c.*572C>A (n.*572C>A)
c.1054C>A (p.His352Asn)
11g.128810809C=CA2008248656FLI1c.1201C= (p.His401=)
c.1180C= (p.His394=)
c.982C= (p.His328=)
c.601C= (p.His201=)
c.*1102C= (n.*1102C=)
n.3763C=
c.1081C= (p.His361=)
c.*572C= (n.*572C=)
c.1054C= (p.His352=)
11g.128810809C>GCA383239225FLI1c.1201C>G (p.His401Asp)
c.1180C>G (p.His394Asp)
c.982C>G (p.His328Asp)
c.601C>G (p.His201Asp)
c.*1102C>G (n.*1102C>G)
n.3763C>G
c.1081C>G (p.His361Asp)
c.*572C>G (n.*572C>G)
c.1054C>G (p.His352Asp)
11g.128810809C>TCA383239226FLI1c.1201C>T (p.His401Tyr)
c.1180C>T (p.His394Tyr)
c.982C>T (p.His328Tyr)
c.601C>T (p.His201Tyr)
c.*1102C>T (n.*1102C>T)
n.3763C>T
c.1081C>T (p.His361Tyr)
c.*572C>T (n.*572C>T)
c.1054C>T (p.His352Tyr)
 dbSNP gnomAD v3 gnomAD v4
11g.128810810A>CCA383239227FLI1c.1202A>C (p.His401Pro)
c.1181A>C (p.His394Pro)
c.983A>C (p.His328Pro)
c.602A>C (p.His201Pro)
c.*1103A>C (n.*1103A>C)
n.3764A>C
c.1082A>C (p.His361Pro)
c.*573A>C (n.*573A>C)
c.1055A>C (p.His352Pro)
11g.128810810A>GCA383239228FLI1c.1202A>G (p.His401Arg)
c.1181A>G (p.His394Arg)
c.983A>G (p.His328Arg)
c.602A>G (p.His201Arg)
c.*1103A>G (n.*1103A>G)
n.3764A>G
c.1082A>G (p.His361Arg)
c.*573A>G (n.*573A>G)
c.1055A>G (p.His352Arg)
 COSMIC
11g.128810810A>TCA383239229FLI1c.1202A>T (p.His401Leu)
c.1181A>T (p.His394Leu)
c.983A>T (p.His328Leu)
c.602A>T (p.His201Leu)
c.*1103A>T (n.*1103A>T)
n.3764A>T
c.1082A>T (p.His361Leu)
c.*573A>T (n.*573A>T)
c.1055A>T (p.His352Leu)
11g.128810811C>ACA383239230FLI1c.1203C>A (p.His401Gln)
c.1182C>A (p.His394Gln)
c.984C>A (p.His328Gln)
c.603C>A (p.His201Gln)
c.*1104C>A (n.*1104C>A)
n.3765C>A
c.1083C>A (p.His361Gln)
c.*574C>A (n.*574C>A)
c.1056C>A (p.His352Gln)
11g.128810811C>GCA383239231FLI1c.1203C>G (p.His401Gln)
c.1182C>G (p.His394Gln)
c.984C>G (p.His328Gln)
c.603C>G (p.His201Gln)
c.*1104C>G (n.*1104C>G)
n.3765C>G
c.1083C>G (p.His361Gln)
c.*574C>G (n.*574C>G)
c.1056C>G (p.His352Gln)
11g.128810811C>TCA477702736FLI1c.1203C>T (p.His401=)
c.1182C>T (p.His394=)
c.984C>T (p.His328=)
c.603C>T (p.His201=)
c.*1104C>T (n.*1104C>T)
n.3765C>T
c.1083C>T (p.His361=)
c.*574C>T (n.*574C>T)
c.1056C>T (p.His352=)
11g.128810812C>ACA383239232FLI1c.1204C>A (p.Gln402Lys)
c.1183C>A (p.Gln395Lys)
c.985C>A (p.Gln329Lys)
c.604C>A (p.Gln202Lys)
c.*1105C>A (n.*1105C>A)
n.3766C>A
c.1084C>A (p.Gln362Lys)
c.*575C>A (n.*575C>A)
c.1057C>A (p.Gln353Lys)
11g.128810812C>GCA383239233FLI1c.1204C>G (p.Gln402Glu)
c.1183C>G (p.Gln395Glu)
c.985C>G (p.Gln329Glu)
c.604C>G (p.Gln202Glu)
c.*1105C>G (n.*1105C>G)
n.3766C>G
c.1084C>G (p.Gln362Glu)
c.*575C>G (n.*575C>G)
c.1057C>G (p.Gln353Glu)
11g.128810812C>TCA383239234FLI1c.1204C>T (p.Gln402Ter)
c.1183C>T (p.Gln395Ter)
c.985C>T (p.Gln329Ter)
c.604C>T (p.Gln202Ter)
c.*1105C>T (n.*1105C>T)
n.3766C>T
c.1084C>T (p.Gln362Ter)
c.*575C>T (n.*575C>T)
c.1057C>T (p.Gln353Ter)
 COSMIC COSMIC
11g.128810813A>CCA383239236FLI1c.1205A>C (p.Gln402Pro)
c.1184A>C (p.Gln395Pro)
c.986A>C (p.Gln329Pro)
c.605A>C (p.Gln202Pro)
c.*1106A>C (n.*1106A>C)
n.3767A>C
c.1085A>C (p.Gln362Pro)
c.*576A>C (n.*576A>C)
c.1058A>C (p.Gln353Pro)
11g.128810813A>GCA383239237FLI1c.1205A>G (p.Gln402Arg)
c.1184A>G (p.Gln395Arg)
c.986A>G (p.Gln329Arg)
c.605A>G (p.Gln202Arg)
c.*1106A>G (n.*1106A>G)
n.3767A>G
c.1085A>G (p.Gln362Arg)
c.*576A>G (n.*576A>G)
c.1058A>G (p.Gln353Arg)
11g.128810813A>TCA383239235FLI1c.1205A>T (p.Gln402Leu)
c.1184A>T (p.Gln395Leu)
c.986A>T (p.Gln329Leu)
c.605A>T (p.Gln202Leu)
c.*1106A>T (n.*1106A>T)
n.3767A>T
c.1085A>T (p.Gln362Leu)
c.*576A>T (n.*576A>T)
c.1058A>T (p.Gln353Leu)
11g.128810813_128810814insCCCCCCCAAACACACCCAACCA2794082361FLI1c.1205_1206insCCCCCCCAAACACACCCAAC (p.Gln402HisfsTer11)
c.1184_1185insCCCCCCCAAACACACCCAAC (p.Gln395HisfsTer11)
c.986_987insCCCCCCCAAACACACCCAAC (p.Gln329HisfsTer11)
c.605_606insCCCCCCCAAACACACCCAAC (p.Gln202HisfsTer11)
c.*1106_*1107insCCCCCCCAAACACACCCAAC (n.*1106_*1107insCCCCCCCAAACACACCCAAC)
n.3767_3768insCCCCCCCAAACACACCCAAC
c.1085_1086insCCCCCCCAAACACACCCAAC (p.Gln362HisfsTer11)
c.*576_*577insCCCCCCCAAACACACCCAAC (n.*576_*577insCCCCCCCAAACACACCCAAC)
c.1058_1059insCCCCCCCAAACACACCCAAC (p.Gln353HisfsTer11)
11g.128810814G>ACA477702737FLI1c.1206G>A (p.Gln402=)
c.1185G>A (p.Gln395=)
c.987G>A (p.Gln329=)
c.606G>A (p.Gln202=)
c.*1107G>A (n.*1107G>A)
n.3768G>A
c.1086G>A (p.Gln362=)
c.*577G>A (n.*577G>A)
c.1059G>A (p.Gln353=)
11g.128810814G>CCA383239238FLI1c.1206G>C (p.Gln402His)
c.1185G>C (p.Gln395His)
c.987G>C (p.Gln329His)
c.606G>C (p.Gln202His)
c.*1107G>C (n.*1107G>C)
n.3768G>C
c.1086G>C (p.Gln362His)
c.*577G>C (n.*577G>C)
c.1059G>C (p.Gln353His)
 dbSNP
11g.128810814G>TCA383239239FLI1c.1206G>T (p.Gln402His)
c.1185G>T (p.Gln395His)
c.987G>T (p.Gln329His)
c.606G>T (p.Gln202His)
c.*1107G>T (n.*1107G>T)
n.3768G>T
c.1086G>T (p.Gln362His)
c.*577G>T (n.*577G>T)
c.1059G>T (p.Gln353His)
11g.128810815C>ACA383239240FLI1c.1207C>A (p.Gln403Lys)
c.1186C>A (p.Gln396Lys)
c.988C>A (p.Gln330Lys)
c.607C>A (p.Gln203Lys)
c.*1108C>A (n.*1108C>A)
n.3769C>A
c.1087C>A (p.Gln363Lys)
c.*578C>A (n.*578C>A)
c.1060C>A (p.Gln354Lys)
 dbSNP gnomAD v4
11g.128810815C>GCA383239241FLI1c.1207C>G (p.Gln403Glu)
c.1186C>G (p.Gln396Glu)
c.988C>G (p.Gln330Glu)
c.607C>G (p.Gln203Glu)
c.*1108C>G (n.*1108C>G)
n.3769C>G
c.1087C>G (p.Gln363Glu)
c.*578C>G (n.*578C>G)
c.1060C>G (p.Gln354Glu)
11g.128810815C>TCA383239242FLI1c.1207C>T (p.Gln403Ter)
c.1186C>T (p.Gln396Ter)
c.988C>T (p.Gln330Ter)
c.607C>T (p.Gln203Ter)
c.*1108C>T (n.*1108C>T)
n.3769C>T
c.1087C>T (p.Gln363Ter)
c.*578C>T (n.*578C>T)
c.1060C>T (p.Gln354Ter)
11g.128810815_128810818delinsCAGACA2008248658FLI1c.1207_1210delinsCAGA (p.Gln403=)
c.1186_1189delinsCAGA (p.Gln396=)
c.988_991delinsCAGA (p.Gln330=)
c.607_610delinsCAGA (p.Gln203=)
c.*1108_*1111delinsCAGA (n.*1108_*1111delinsCAGA)
n.3769_3772delinsCAGA
c.1087_1090delinsCAGA (p.Gln363=)
c.*578_*581delinsCAGA (n.*578_*581delinsCAGA)
c.1060_1063delinsCAGA (p.Gln354=)
11g.128810816A>CCA383239245FLI1c.1208A>C (p.Gln403Pro)
c.1187A>C (p.Gln396Pro)
c.989A>C (p.Gln330Pro)
c.608A>C (p.Gln203Pro)
c.*1109A>C (n.*1109A>C)
n.3770A>C
c.1088A>C (p.Gln363Pro)
c.*579A>C (n.*579A>C)
c.1061A>C (p.Gln354Pro)
 gnomAD v4
11g.128810816A>GCA383239243FLI1c.1208A>G (p.Gln403Arg)
c.1187A>G (p.Gln396Arg)
c.989A>G (p.Gln330Arg)
c.608A>G (p.Gln203Arg)
c.*1109A>G (n.*1109A>G)
n.3770A>G
c.1088A>G (p.Gln363Arg)
c.*579A>G (n.*579A>G)
c.1061A>G (p.Gln354Arg)
11g.128810816A>TCA383239244FLI1c.1208A>T (p.Gln403Leu)
c.1187A>T (p.Gln396Leu)
c.989A>T (p.Gln330Leu)
c.608A>T (p.Gln203Leu)
c.*1109A>T (n.*1109A>T)
n.3770A>T
c.1088A>T (p.Gln363Leu)
c.*579A>T (n.*579A>T)
c.1061A>T (p.Gln354Leu)
11g.128810818_128810820delCA2008248660FLI1c.1210_1212del (p.Lys404del)
c.1189_1191del (p.Lys397del)
c.991_993del (p.Lys331del)
c.610_612del (p.Lys204del)
c.*1111_*1113del (n.*1111_*1113del)
n.3772_3774del
c.1090_1092del (p.Lys364del)
c.*581_*583del (n.*581_*583del)
c.1063_1065del (p.Lys355del)
 dbSNP
11g.128810817G>ACA477702740FLI1c.1209G>A (p.Gln403=)
c.1188G>A (p.Gln396=)
c.990G>A (p.Gln330=)
c.609G>A (p.Gln203=)
c.*1110G>A (n.*1110G>A)
n.3771G>A
c.1089G>A (p.Gln363=)
c.*580G>A (n.*580G>A)
c.1062G>A (p.Gln354=)
11g.128810817G>CCA383239246FLI1c.1209G>C (p.Gln403His)
c.1188G>C (p.Gln396His)
c.990G>C (p.Gln330His)
c.609G>C (p.Gln203His)
c.*1110G>C (n.*1110G>C)
n.3771G>C
c.1089G>C (p.Gln363His)
c.*580G>C (n.*580G>C)
c.1062G>C (p.Gln354His)
11g.128810817G>TCA383239247FLI1c.1209G>T (p.Gln403His)
c.1188G>T (p.Gln396His)
c.990G>T (p.Gln330His)
c.609G>T (p.Gln203His)
c.*1110G>T (n.*1110G>T)
n.3771G>T
c.1089G>T (p.Gln363His)
c.*580G>T (n.*580G>T)
c.1062G>T (p.Gln354His)
11g.128810818A=CA2008248661FLI1c.1210A= (p.Lys404=)
c.1189A= (p.Lys397=)
c.991A= (p.Lys331=)
c.610A= (p.Lys204=)
c.*1111A= (n.*1111A=)
n.3772A=
c.1090A= (p.Lys364=)
c.*581A= (n.*581A=)
c.1063A= (p.Lys355=)
11g.128810818A>CCA383239248FLI1c.1210A>C (p.Lys404Gln)
c.1189A>C (p.Lys397Gln)
c.991A>C (p.Lys331Gln)
c.610A>C (p.Lys204Gln)
c.*1111A>C (n.*1111A>C)
n.3772A>C
c.1090A>C (p.Lys364Gln)
c.*581A>C (n.*581A>C)
c.1063A>C (p.Lys355Gln)
11g.128810818A>GCA383239249FLI1c.1210A>G (p.Lys404Glu)
c.1189A>G (p.Lys397Glu)
c.991A>G (p.Lys331Glu)
c.610A>G (p.Lys204Glu)
c.*1111A>G (n.*1111A>G)
n.3772A>G
c.1090A>G (p.Lys364Glu)
c.*581A>G (n.*581A>G)
c.1063A>G (p.Lys355Glu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.128810818A>TCA383239250FLI1c.1210A>T (p.Lys404Ter)
c.1189A>T (p.Lys397Ter)
c.991A>T (p.Lys331Ter)
c.610A>T (p.Lys204Ter)
c.*1111A>T (n.*1111A>T)
n.3772A>T
c.1090A>T (p.Lys364Ter)
c.*581A>T (n.*581A>T)
c.1063A>T (p.Lys355Ter)
11g.128810819A=CA2008248666FLI1c.1211A= (p.Lys404=)
c.1190A= (p.Lys397=)
c.992A= (p.Lys331=)
c.611A= (p.Lys204=)
c.*1112A= (n.*1112A=)
n.3773A=
c.1091A= (p.Lys364=)
c.*582A= (n.*582A=)
c.1064A= (p.Lys355=)
11g.128810819A>CCA383239252FLI1c.1211A>C (p.Lys404Thr)
c.1190A>C (p.Lys397Thr)
c.992A>C (p.Lys331Thr)
c.611A>C (p.Lys204Thr)
c.*1112A>C (n.*1112A>C)
n.3773A>C
c.1091A>C (p.Lys364Thr)
c.*582A>C (n.*582A>C)
c.1064A>C (p.Lys355Thr)
11g.128810819A>GCA6357322FLI1c.1211A>G (p.Lys404Arg)
c.1190A>G (p.Lys397Arg)
c.992A>G (p.Lys331Arg)
c.611A>G (p.Lys204Arg)
c.*1112A>G (n.*1112A>G)
n.3773A>G
c.1091A>G (p.Lys364Arg)
c.*582A>G (n.*582A>G)
c.1064A>G (p.Lys355Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.128810819A>TCA383239251FLI1c.1211A>T (p.Lys404Met)
c.1190A>T (p.Lys397Met)
c.992A>T (p.Lys331Met)
c.611A>T (p.Lys204Met)
c.*1112A>T (n.*1112A>T)
n.3773A>T
c.1091A>T (p.Lys364Met)
c.*582A>T (n.*582A>T)
c.1064A>T (p.Lys355Met)
11g.128810820G>ACA6357323FLI1c.1212G>A (p.Lys404=)
c.1191G>A (p.Lys397=)
c.993G>A (p.Lys331=)
c.612G>A (p.Lys204=)
c.*1113G>A (n.*1113G>A)
n.3774G>A
c.1092G>A (p.Lys364=)
c.*583G>A (n.*583G>A)
c.1065G>A (p.Lys355=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.128810820G>CCA383239254FLI1c.1212G>C (p.Lys404Asn)
c.1191G>C (p.Lys397Asn)
c.993G>C (p.Lys331Asn)
c.612G>C (p.Lys204Asn)
c.*1113G>C (n.*1113G>C)
n.3774G>C
c.1092G>C (p.Lys364Asn)
c.*583G>C (n.*583G>C)
c.1065G>C (p.Lys355Asn)
11g.128810820G=CA2008248671FLI1c.1212G= (p.Lys404=)
c.1191G= (p.Lys397=)
c.993G= (p.Lys331=)
c.612G= (p.Lys204=)
c.*1113G= (n.*1113G=)
n.3774G=
c.1092G= (p.Lys364=)
c.*583G= (n.*583G=)
c.1065G= (p.Lys355=)
11g.128810820G>TCA383239253FLI1c.1212G>T (p.Lys404Asn)
c.1191G>T (p.Lys397Asn)
c.993G>T (p.Lys331Asn)
c.612G>T (p.Lys204Asn)
c.*1113G>T (n.*1113G>T)
n.3774G>T
c.1092G>T (p.Lys364Asn)
c.*583G>T (n.*583G>T)
c.1065G>T (p.Lys355Asn)
11g.128810821G>ACA383239255FLI1c.1213G>A (p.Val405Met)
c.1192G>A (p.Val398Met)
c.994G>A (p.Val332Met)
c.613G>A (p.Val205Met)
c.*1114G>A (n.*1114G>A)
n.3775G>A
c.1093G>A (p.Val365Met)
c.*584G>A (n.*584G>A)
c.1066G>A (p.Val356Met)
11g.128810821G>CCA383239257FLI1c.1213G>C (p.Val405Leu)
c.1192G>C (p.Val398Leu)
c.994G>C (p.Val332Leu)
c.613G>C (p.Val205Leu)
c.*1114G>C (n.*1114G>C)
n.3775G>C
c.1093G>C (p.Val365Leu)
c.*584G>C (n.*584G>C)
c.1066G>C (p.Val356Leu)
11g.128810821G>TCA383239256FLI1c.1213G>T (p.Val405Leu)
c.1192G>T (p.Val398Leu)
c.994G>T (p.Val332Leu)
c.613G>T (p.Val205Leu)
c.*1114G>T (n.*1114G>T)
n.3775G>T
c.1093G>T (p.Val365Leu)
c.*584G>T (n.*584G>T)
c.1066G>T (p.Val356Leu)
 gnomAD v4
11g.128810822T>ACA383239258FLI1c.1214T>A (p.Val405Glu)
c.1193T>A (p.Val398Glu)
c.995T>A (p.Val332Glu)
c.614T>A (p.Val205Glu)
c.*1115T>A (n.*1115T>A)
n.3776T>A
c.1094T>A (p.Val365Glu)
c.*585T>A (n.*585T>A)
c.1067T>A (p.Val356Glu)
11g.128810822T>CCA383239259FLI1c.1214T>C (p.Val405Ala)
c.1193T>C (p.Val398Ala)
c.995T>C (p.Val332Ala)
c.614T>C (p.Val205Ala)
c.*1115T>C (n.*1115T>C)
n.3776T>C
c.1094T>C (p.Val365Ala)
c.*585T>C (n.*585T>C)
c.1067T>C (p.Val356Ala)
11g.128810822T>GCA383239260FLI1c.1214T>G (p.Val405Gly)
c.1193T>G (p.Val398Gly)
c.995T>G (p.Val332Gly)
c.614T>G (p.Val205Gly)
c.*1115T>G (n.*1115T>G)
n.3776T>G
c.1094T>G (p.Val365Gly)
c.*585T>G (n.*585T>G)
c.1067T>G (p.Val356Gly)
11g.128810823G>ACA477702746FLI1c.1215G>A (p.Val405=)
c.1194G>A (p.Val398=)
c.996G>A (p.Val332=)
c.615G>A (p.Val205=)
c.*1116G>A (n.*1116G>A)
n.3777G>A
c.1095G>A (p.Val365=)
c.*586G>A (n.*586G>A)
c.1068G>A (p.Val356=)
11g.128810823G>CCA477702747FLI1c.1215G>C (p.Val405=)
c.1194G>C (p.Val398=)
c.996G>C (p.Val332=)
c.615G>C (p.Val205=)
c.*1116G>C (n.*1116G>C)
n.3777G>C
c.1095G>C (p.Val365=)
c.*586G>C (n.*586G>C)
c.1068G>C (p.Val356=)
11g.128810823G>TCA477702748FLI1c.1215G>T (p.Val405=)
c.1194G>T (p.Val398=)
c.996G>T (p.Val332=)
c.615G>T (p.Val205=)
c.*1116G>T (n.*1116G>T)
n.3777G>T
c.1095G>T (p.Val365=)
c.*586G>T (n.*586G>T)
c.1068G>T (p.Val356=)

Number of alleles fetched