Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.128810616C>ACA383238778FLI1c.1008C>A (p.Asn336Lys)
c.987C>A (p.Asn329Lys)
c.789C>A (p.Asn263Lys)
c.408C>A (p.Asn136Lys)
c.*909C>A (n.*909C>A)
n.3570C>A
c.888C>A (p.Asn296Lys)
c.*379C>A (n.*379C>A)
c.861C>A (p.Asn287Lys)
11g.128810616C=CA2008248358FLI1c.1008C= (p.Asn336=)
c.987C= (p.Asn329=)
c.789C= (p.Asn263=)
c.408C= (p.Asn136=)
c.*909C= (n.*909C=)
n.3570C=
c.888C= (p.Asn296=)
c.*379C= (n.*379C=)
c.861C= (p.Asn287=)
11g.128810616C>GCA383238779FLI1c.1008C>G (p.Asn336Lys)
c.987C>G (p.Asn329Lys)
c.789C>G (p.Asn263Lys)
c.408C>G (p.Asn136Lys)
c.*909C>G (n.*909C>G)
n.3570C>G
c.888C>G (p.Asn296Lys)
c.*379C>G (n.*379C>G)
c.861C>G (p.Asn287Lys)
11g.128810616C>TCA477702603FLI1c.1008C>T (p.Asn336=)
c.987C>T (p.Asn329=)
c.789C>T (p.Asn263=)
c.408C>T (p.Asn136=)
c.*909C>T (n.*909C>T)
n.3570C>T
c.888C>T (p.Asn296=)
c.*379C>T (n.*379C>T)
c.861C>T (p.Asn287=)
dbSNP gnomAD v4
11g.128810617A>CCA383238780FLI1c.1009A>C (p.Met337Leu)
c.988A>C (p.Met330Leu)
c.790A>C (p.Met264Leu)
c.409A>C (p.Met137Leu)
c.*910A>C (n.*910A>C)
n.3571A>C
c.889A>C (p.Met297Leu)
c.*380A>C (n.*380A>C)
c.862A>C (p.Met288Leu)
11g.128810617A>GCA383238782FLI1c.1009A>G (p.Met337Val)
c.988A>G (p.Met330Val)
c.790A>G (p.Met264Val)
c.409A>G (p.Met137Val)
c.*910A>G (n.*910A>G)
n.3571A>G
c.889A>G (p.Met297Val)
c.*380A>G (n.*380A>G)
c.862A>G (p.Met288Val)
11g.128810617A>TCA383238781FLI1c.1009A>T (p.Met337Leu)
c.988A>T (p.Met330Leu)
c.790A>T (p.Met264Leu)
c.409A>T (p.Met137Leu)
c.*910A>T (n.*910A>T)
n.3571A>T
c.889A>T (p.Met297Leu)
c.*380A>T (n.*380A>T)
c.862A>T (p.Met288Leu)
11g.128810618T>ACA383238783FLI1c.1010T>A (p.Met337Lys)
c.989T>A (p.Met330Lys)
c.791T>A (p.Met264Lys)
c.410T>A (p.Met137Lys)
c.*911T>A (n.*911T>A)
n.3572T>A
c.890T>A (p.Met297Lys)
c.*381T>A (n.*381T>A)
c.863T>A (p.Met288Lys)
11g.128810618T>CCA383238784FLI1c.1010T>C (p.Met337Thr)
c.989T>C (p.Met330Thr)
c.791T>C (p.Met264Thr)
c.410T>C (p.Met137Thr)
c.*911T>C (n.*911T>C)
n.3572T>C
c.890T>C (p.Met297Thr)
c.*381T>C (n.*381T>C)
c.863T>C (p.Met288Thr)
11g.128810618T>GCA383238785FLI1c.1010T>G (p.Met337Arg)
c.989T>G (p.Met330Arg)
c.791T>G (p.Met264Arg)
c.410T>G (p.Met137Arg)
c.*911T>G (n.*911T>G)
n.3572T>G
c.890T>G (p.Met297Arg)
c.*381T>G (n.*381T>G)
c.863T>G (p.Met288Arg)
11g.128810619G>ACA383238786FLI1c.1011G>A (p.Met337Ile)
c.990G>A (p.Met330Ile)
c.792G>A (p.Met264Ile)
c.411G>A (p.Met137Ile)
c.*912G>A (n.*912G>A)
n.3573G>A
c.891G>A (p.Met297Ile)
c.*382G>A (n.*382G>A)
c.864G>A (p.Met288Ile)
11g.128810619G>CCA383238787FLI1c.1011G>C (p.Met337Ile)
c.990G>C (p.Met330Ile)
c.792G>C (p.Met264Ile)
c.411G>C (p.Met137Ile)
c.*912G>C (n.*912G>C)
n.3573G>C
c.891G>C (p.Met297Ile)
c.*382G>C (n.*382G>C)
c.864G>C (p.Met288Ile)
11g.128810619G>TCA383238788FLI1c.1011G>T (p.Met337Ile)
c.990G>T (p.Met330Ile)
c.792G>T (p.Met264Ile)
c.411G>T (p.Met137Ile)
c.*912G>T (n.*912G>T)
n.3573G>T
c.891G>T (p.Met297Ile)
c.*382G>T (n.*382G>T)
c.864G>T (p.Met288Ile)
11g.128810619_128810623delinsGAATTCA2008248362FLI1c.1011_1015delinsGAATT (p.Met337=)
c.990_994delinsGAATT (p.Met330=)
c.792_796delinsGAATT (p.Met264=)
c.411_415delinsGAATT (p.Met137=)
c.*912_*916delinsGAATT (n.*912_*916delinsGAATT)
n.3573_3577delinsGAATT
c.891_895delinsGAATT (p.Met297=)
c.*382_*386delinsGAATT (n.*382_*386delinsGAATT)
c.864_868delinsGAATT (p.Met288=)
11g.128810620A>CCA383238789FLI1c.1012A>C (p.Asn338His)
c.991A>C (p.Asn331His)
c.793A>C (p.Asn265His)
c.412A>C (p.Asn138His)
c.*913A>C (n.*913A>C)
n.3574A>C
c.892A>C (p.Asn298His)
c.*383A>C (n.*383A>C)
c.865A>C (p.Asn289His)
11g.128810620A>GCA383238790FLI1c.1012A>G (p.Asn338Asp)
c.991A>G (p.Asn331Asp)
c.793A>G (p.Asn265Asp)
c.412A>G (p.Asn138Asp)
c.*913A>G (n.*913A>G)
n.3574A>G
c.892A>G (p.Asn298Asp)
c.*383A>G (n.*383A>G)
c.865A>G (p.Asn289Asp)
11g.128810620A>TCA383238791FLI1c.1012A>T (p.Asn338Tyr)
c.991A>T (p.Asn331Tyr)
c.793A>T (p.Asn265Tyr)
c.412A>T (p.Asn138Tyr)
c.*913A>T (n.*913A>T)
n.3574A>T
c.892A>T (p.Asn298Tyr)
c.*383A>T (n.*383A>T)
c.865A>T (p.Asn289Tyr)
11g.128810621_128810624delCA16621535FLI1c.1013_1016del (p.Asn338ThrfsTer4)
c.992_995del (p.Asn331ThrfsTer4)
c.794_797del (p.Asn265ThrfsTer4)
c.413_416del (p.Asn138ThrfsTer4)
c.*914_*917del (n.*914_*917del)
n.3575_3578del
c.893_896del (p.Asn298ThrfsTer4)
c.*384_*387del (n.*384_*387del)
c.866_869del (p.Asn289ThrfsTer4)
ClinVar dbSNP
11g.128810621A=CA2008248373FLI1c.1013A= (p.Asn338=)
c.992A= (p.Asn331=)
c.794A= (p.Asn265=)
c.413A= (p.Asn138=)
c.*914A= (n.*914A=)
n.3575A=
c.893A= (p.Asn298=)
c.*384A= (n.*384A=)
c.866A= (p.Asn289=)
11g.128810621A>CCA383238792FLI1c.1013A>C (p.Asn338Thr)
c.992A>C (p.Asn331Thr)
c.794A>C (p.Asn265Thr)
c.413A>C (p.Asn138Thr)
c.*914A>C (n.*914A>C)
n.3575A>C
c.893A>C (p.Asn298Thr)
c.*384A>C (n.*384A>C)
c.866A>C (p.Asn289Thr)
11g.128810621A>GCA383238793FLI1c.1013A>G (p.Asn338Ser)
c.992A>G (p.Asn331Ser)
c.794A>G (p.Asn265Ser)
c.413A>G (p.Asn138Ser)
c.*914A>G (n.*914A>G)
n.3575A>G
c.893A>G (p.Asn298Ser)
c.*384A>G (n.*384A>G)
c.866A>G (p.Asn289Ser)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.128810621A>TCA383238794FLI1c.1013A>T (p.Asn338Ile)
c.992A>T (p.Asn331Ile)
c.794A>T (p.Asn265Ile)
c.413A>T (p.Asn138Ile)
c.*914A>T (n.*914A>T)
n.3575A>T
c.893A>T (p.Asn298Ile)
c.*384A>T (n.*384A>T)
c.866A>T (p.Asn289Ile)
11g.128810622T>ACA383238796FLI1c.1014T>A (p.Asn338Lys)
c.993T>A (p.Asn331Lys)
c.795T>A (p.Asn265Lys)
c.414T>A (p.Asn138Lys)
c.*915T>A (n.*915T>A)
n.3576T>A
c.894T>A (p.Asn298Lys)
c.*385T>A (n.*385T>A)
c.867T>A (p.Asn289Lys)
11g.128810622T>CCA477702604FLI1c.1014T>C (p.Asn338=)
c.993T>C (p.Asn331=)
c.795T>C (p.Asn265=)
c.414T>C (p.Asn138=)
c.*915T>C (n.*915T>C)
n.3576T>C
c.894T>C (p.Asn298=)
c.*385T>C (n.*385T>C)
c.867T>C (p.Asn289=)
11g.128810622T>GCA383238795FLI1c.1014T>G (p.Asn338Lys)
c.993T>G (p.Asn331Lys)
c.795T>G (p.Asn265Lys)
c.414T>G (p.Asn138Lys)
c.*915T>G (n.*915T>G)
n.3576T>G
c.894T>G (p.Asn298Lys)
c.*385T>G (n.*385T>G)
c.867T>G (p.Asn289Lys)
11g.128810623T>ACA383238797FLI1c.1015T>A (p.Tyr339Asn)
c.994T>A (p.Tyr332Asn)
c.796T>A (p.Tyr266Asn)
c.415T>A (p.Tyr139Asn)
c.*916T>A (n.*916T>A)
n.3577T>A
c.895T>A (p.Tyr299Asn)
c.*386T>A (n.*386T>A)
c.868T>A (p.Tyr290Asn)
11g.128810623T>CCA383238798FLI1c.1015T>C (p.Tyr339His)
c.994T>C (p.Tyr332His)
c.796T>C (p.Tyr266His)
c.415T>C (p.Tyr139His)
c.*916T>C (n.*916T>C)
n.3577T>C
c.895T>C (p.Tyr299His)
c.*386T>C (n.*386T>C)
c.868T>C (p.Tyr290His)
11g.128810623T>GCA383238799FLI1c.1015T>G (p.Tyr339Asp)
c.994T>G (p.Tyr332Asp)
c.796T>G (p.Tyr266Asp)
c.415T>G (p.Tyr139Asp)
c.*916T>G (n.*916T>G)
n.3577T>G
c.895T>G (p.Tyr299Asp)
c.*386T>G (n.*386T>G)
c.868T>G (p.Tyr290Asp)
11g.128810624A>CCA383238800FLI1c.1016A>C (p.Tyr339Ser)
c.995A>C (p.Tyr332Ser)
c.797A>C (p.Tyr266Ser)
c.416A>C (p.Tyr139Ser)
c.*917A>C (n.*917A>C)
n.3578A>C
c.896A>C (p.Tyr299Ser)
c.*387A>C (n.*387A>C)
c.869A>C (p.Tyr290Ser)
11g.128810624A>GCA383238801FLI1c.1016A>G (p.Tyr339Cys)
c.995A>G (p.Tyr332Cys)
c.797A>G (p.Tyr266Cys)
c.416A>G (p.Tyr139Cys)
c.*917A>G (n.*917A>G)
n.3578A>G
c.896A>G (p.Tyr299Cys)
c.*387A>G (n.*387A>G)
c.869A>G (p.Tyr290Cys)
11g.128810624A>TCA383238802FLI1c.1016A>T (p.Tyr339Phe)
c.995A>T (p.Tyr332Phe)
c.797A>T (p.Tyr266Phe)
c.416A>T (p.Tyr139Phe)
c.*917A>T (n.*917A>T)
n.3578A>T
c.896A>T (p.Tyr299Phe)
c.*387A>T (n.*387A>T)
c.869A>T (p.Tyr290Phe)
11g.128810625C>ACA383238803FLI1c.1017C>A (p.Tyr339Ter)
c.996C>A (p.Tyr332Ter)
c.798C>A (p.Tyr266Ter)
c.417C>A (p.Tyr139Ter)
c.*918C>A (n.*918C>A)
n.3579C>A
c.897C>A (p.Tyr299Ter)
c.*388C>A (n.*388C>A)
c.870C>A (p.Tyr290Ter)
11g.128810625C=CA2008248381FLI1c.1017C= (p.Tyr339=)
c.996C= (p.Tyr332=)
c.798C= (p.Tyr266=)
c.417C= (p.Tyr139=)
c.*918C= (n.*918C=)
n.3579C=
c.897C= (p.Tyr299=)
c.*388C= (n.*388C=)
c.870C= (p.Tyr290=)
11g.128810625C>GCA383238804FLI1c.1017C>G (p.Tyr339Ter)
c.996C>G (p.Tyr332Ter)
c.798C>G (p.Tyr266Ter)
c.417C>G (p.Tyr139Ter)
c.*918C>G (n.*918C>G)
n.3579C>G
c.897C>G (p.Tyr299Ter)
c.*388C>G (n.*388C>G)
c.870C>G (p.Tyr290Ter)
11g.128810625C>TCA6357299FLI1c.1017C>T (p.Tyr339=)
c.996C>T (p.Tyr332=)
c.798C>T (p.Tyr266=)
c.417C>T (p.Tyr139=)
c.*918C>T (n.*918C>T)
n.3579C>T
c.897C>T (p.Tyr299=)
c.*388C>T (n.*388C>T)
c.870C>T (p.Tyr290=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
11g.128810626G>ACA383238805FLI1c.1018G>A (p.Asp340Asn)
c.997G>A (p.Asp333Asn)
c.799G>A (p.Asp267Asn)
c.418G>A (p.Asp140Asn)
c.*919G>A (n.*919G>A)
n.3580G>A
c.898G>A (p.Asp300Asn)
c.*389G>A (n.*389G>A)
c.871G>A (p.Asp291Asn)
gnomAD v4
11g.128810626G>CCA383238806FLI1c.1018G>C (p.Asp340His)
c.997G>C (p.Asp333His)
c.799G>C (p.Asp267His)
c.418G>C (p.Asp140His)
c.*919G>C (n.*919G>C)
n.3580G>C
c.898G>C (p.Asp300His)
c.*389G>C (n.*389G>C)
c.871G>C (p.Asp291His)
11g.128810626G>TCA383238807FLI1c.1018G>T (p.Asp340Tyr)
c.997G>T (p.Asp333Tyr)
c.799G>T (p.Asp267Tyr)
c.418G>T (p.Asp140Tyr)
c.*919G>T (n.*919G>T)
n.3580G>T
c.898G>T (p.Asp300Tyr)
c.*389G>T (n.*389G>T)
c.871G>T (p.Asp291Tyr)
11g.128810627A=CA2008248390FLI1c.1019A= (p.Asp340=)
c.998A= (p.Asp333=)
c.800A= (p.Asp267=)
c.419A= (p.Asp140=)
c.*920A= (n.*920A=)
n.3581A=
c.899A= (p.Asp300=)
c.*390A= (n.*390A=)
c.872A= (p.Asp291=)
11g.128810627A>CCA383238810FLI1c.1019A>C (p.Asp340Ala)
c.998A>C (p.Asp333Ala)
c.800A>C (p.Asp267Ala)
c.419A>C (p.Asp140Ala)
c.*920A>C (n.*920A>C)
n.3581A>C
c.899A>C (p.Asp300Ala)
c.*390A>C (n.*390A>C)
c.872A>C (p.Asp291Ala)
11g.128810627A>GCA383238809FLI1c.1019A>G (p.Asp340Gly)
c.998A>G (p.Asp333Gly)
c.800A>G (p.Asp267Gly)
c.419A>G (p.Asp140Gly)
c.*920A>G (n.*920A>G)
n.3581A>G
c.899A>G (p.Asp300Gly)
c.*390A>G (n.*390A>G)
c.872A>G (p.Asp291Gly)
dbSNP
11g.128810627A>TCA383238808FLI1c.1019A>T (p.Asp340Val)
c.998A>T (p.Asp333Val)
c.800A>T (p.Asp267Val)
c.419A>T (p.Asp140Val)
c.*920A>T (n.*920A>T)
n.3581A>T
c.899A>T (p.Asp300Val)
c.*390A>T (n.*390A>T)
c.872A>T (p.Asp291Val)
11g.128810628C>ACA383238811FLI1c.1020C>A (p.Asp340Glu)
c.999C>A (p.Asp333Glu)
c.801C>A (p.Asp267Glu)
c.420C>A (p.Asp140Glu)
c.*921C>A (n.*921C>A)
n.3582C>A
c.900C>A (p.Asp300Glu)
c.*391C>A (n.*391C>A)
c.873C>A (p.Asp291Glu)
11g.128810628C>GCA383238812FLI1c.1020C>G (p.Asp340Glu)
c.999C>G (p.Asp333Glu)
c.801C>G (p.Asp267Glu)
c.420C>G (p.Asp140Glu)
c.*921C>G (n.*921C>G)
n.3582C>G
c.900C>G (p.Asp300Glu)
c.*391C>G (n.*391C>G)
c.873C>G (p.Asp291Glu)
COSMIC COSMIC
11g.128810628C>TCA477702605FLI1c.1020C>T (p.Asp340=)
c.999C>T (p.Asp333=)
c.801C>T (p.Asp267=)
c.420C>T (p.Asp140=)
c.*921C>T (n.*921C>T)
n.3582C>T
c.900C>T (p.Asp300=)
c.*391C>T (n.*391C>T)
c.873C>T (p.Asp291=)
11g.128810629A>CCA383238813FLI1c.1021A>C (p.Lys341Gln)
c.1000A>C (p.Lys334Gln)
c.802A>C (p.Lys268Gln)
c.421A>C (p.Lys141Gln)
c.*922A>C (n.*922A>C)
n.3583A>C
c.901A>C (p.Lys301Gln)
c.*392A>C (n.*392A>C)
c.874A>C (p.Lys292Gln)
11g.128810629A>GCA383238814FLI1c.1021A>G (p.Lys341Glu)
c.1000A>G (p.Lys334Glu)
c.802A>G (p.Lys268Glu)
c.421A>G (p.Lys141Glu)
c.*922A>G (n.*922A>G)
n.3583A>G
c.901A>G (p.Lys301Glu)
c.*392A>G (n.*392A>G)
c.874A>G (p.Lys292Glu)
11g.128810629A>TCA383238815FLI1c.1021A>T (p.Lys341Ter)
c.1000A>T (p.Lys334Ter)
c.802A>T (p.Lys268Ter)
c.421A>T (p.Lys141Ter)
c.*922A>T (n.*922A>T)
n.3583A>T
c.901A>T (p.Lys301Ter)
c.*392A>T (n.*392A>T)
c.874A>T (p.Lys292Ter)
11g.128810630A>CCA383238816FLI1c.1022A>C (p.Lys341Thr)
c.1001A>C (p.Lys334Thr)
c.803A>C (p.Lys268Thr)
c.422A>C (p.Lys141Thr)
c.*923A>C (n.*923A>C)
n.3584A>C
c.902A>C (p.Lys301Thr)
c.*393A>C (n.*393A>C)
c.875A>C (p.Lys292Thr)
11g.128810630A>GCA383238817FLI1c.1022A>G (p.Lys341Arg)
c.1001A>G (p.Lys334Arg)
c.803A>G (p.Lys268Arg)
c.422A>G (p.Lys141Arg)
c.*923A>G (n.*923A>G)
n.3584A>G
c.902A>G (p.Lys301Arg)
c.*393A>G (n.*393A>G)
c.875A>G (p.Lys292Arg)
11g.128810630A>TCA383238818FLI1c.1022A>T (p.Lys341Met)
c.1001A>T (p.Lys334Met)
c.803A>T (p.Lys268Met)
c.422A>T (p.Lys141Met)
c.*923A>T (n.*923A>T)
n.3584A>T
c.902A>T (p.Lys301Met)
c.*393A>T (n.*393A>T)
c.875A>T (p.Lys292Met)
11g.128810631G>ACA477702606FLI1c.1023G>A (p.Lys341=)
c.1002G>A (p.Lys334=)
c.804G>A (p.Lys268=)
c.423G>A (p.Lys141=)
c.*924G>A (n.*924G>A)
n.3585G>A
c.903G>A (p.Lys301=)
c.*394G>A (n.*394G>A)
c.876G>A (p.Lys292=)
11g.128810631G>CCA383238819FLI1c.1023G>C (p.Lys341Asn)
c.1002G>C (p.Lys334Asn)
c.804G>C (p.Lys268Asn)
c.423G>C (p.Lys141Asn)
c.*924G>C (n.*924G>C)
n.3585G>C
c.903G>C (p.Lys301Asn)
c.*394G>C (n.*394G>C)
c.876G>C (p.Lys292Asn)
11g.128810631G>TCA383238820FLI1c.1023G>T (p.Lys341Asn)
c.1002G>T (p.Lys334Asn)
c.804G>T (p.Lys268Asn)
c.423G>T (p.Lys141Asn)
c.*924G>T (n.*924G>T)
n.3585G>T
c.903G>T (p.Lys301Asn)
c.*394G>T (n.*394G>T)
c.876G>T (p.Lys292Asn)
11g.128810632C>ACA383238821FLI1c.1024C>A (p.Leu342Met)
c.1003C>A (p.Leu335Met)
c.805C>A (p.Leu269Met)
c.424C>A (p.Leu142Met)
c.*925C>A (n.*925C>A)
n.3586C>A
c.904C>A (p.Leu302Met)
c.*395C>A (n.*395C>A)
c.877C>A (p.Leu293Met)
11g.128810632C>GCA383238822FLI1c.1024C>G (p.Leu342Val)
c.1003C>G (p.Leu335Val)
c.805C>G (p.Leu269Val)
c.424C>G (p.Leu142Val)
c.*925C>G (n.*925C>G)
n.3586C>G
c.904C>G (p.Leu302Val)
c.*395C>G (n.*395C>G)
c.877C>G (p.Leu293Val)
11g.128810632C>TCA477702607FLI1c.1024C>T (p.Leu342=)
c.1003C>T (p.Leu335=)
c.805C>T (p.Leu269=)
c.424C>T (p.Leu142=)
c.*925C>T (n.*925C>T)
n.3586C>T
c.904C>T (p.Leu302=)
c.*395C>T (n.*395C>T)
c.877C>T (p.Leu293=)
11g.128810633T>ACA383238824FLI1c.1025T>A (p.Leu342Gln)
c.1004T>A (p.Leu335Gln)
c.806T>A (p.Leu269Gln)
c.425T>A (p.Leu142Gln)
c.*926T>A (n.*926T>A)
n.3587T>A
c.905T>A (p.Leu302Gln)
c.*396T>A (n.*396T>A)
c.878T>A (p.Leu293Gln)
11g.128810633T>CCA383238825FLI1c.1025T>C (p.Leu342Pro)
c.1004T>C (p.Leu335Pro)
c.806T>C (p.Leu269Pro)
c.425T>C (p.Leu142Pro)
c.*926T>C (n.*926T>C)
n.3587T>C
c.905T>C (p.Leu302Pro)
c.*396T>C (n.*396T>C)
c.878T>C (p.Leu293Pro)
11g.128810633T>GCA383238823FLI1c.1025T>G (p.Leu342Arg)
c.1004T>G (p.Leu335Arg)
c.806T>G (p.Leu269Arg)
c.425T>G (p.Leu142Arg)
c.*926T>G (n.*926T>G)
n.3587T>G
c.905T>G (p.Leu302Arg)
c.*396T>G (n.*396T>G)
c.878T>G (p.Leu293Arg)
11g.128810634G>ACA477702608FLI1c.1026G>A (p.Leu342=)
c.1005G>A (p.Leu335=)
c.807G>A (p.Leu269=)
c.426G>A (p.Leu142=)
c.*927G>A (n.*927G>A)
n.3588G>A
c.906G>A (p.Leu302=)
c.*397G>A (n.*397G>A)
c.879G>A (p.Leu293=)
11g.128810634G>CCA477702609FLI1c.1026G>C (p.Leu342=)
c.1005G>C (p.Leu335=)
c.807G>C (p.Leu269=)
c.426G>C (p.Leu142=)
c.*927G>C (n.*927G>C)
n.3588G>C
c.906G>C (p.Leu302=)
c.*397G>C (n.*397G>C)
c.879G>C (p.Leu293=)
11g.128810634G=CA2008248393FLI1c.1026G= (p.Leu342=)
c.1005G= (p.Leu335=)
c.807G= (p.Leu269=)
c.426G= (p.Leu142=)
c.*927G= (n.*927G=)
n.3588G=
c.906G= (p.Leu302=)
c.*397G= (n.*397G=)
c.879G= (p.Leu293=)
11g.128810634G>TCA6357300FLI1c.1026G>T (p.Leu342=)
c.1005G>T (p.Leu335=)
c.807G>T (p.Leu269=)
c.426G>T (p.Leu142=)
c.*927G>T (n.*927G>T)
n.3588G>T
c.906G>T (p.Leu302=)
c.*397G>T (n.*397G>T)
c.879G>T (p.Leu293=)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.128810635A>CCA383238826FLI1c.1027A>C (p.Ser343Arg)
c.1006A>C (p.Ser336Arg)
c.808A>C (p.Ser270Arg)
c.427A>C (p.Ser143Arg)
c.*928A>C (n.*928A>C)
n.3589A>C
c.907A>C (p.Ser303Arg)
c.*398A>C (n.*398A>C)
c.880A>C (p.Ser294Arg)
11g.128810635A>GCA383238827FLI1c.1027A>G (p.Ser343Gly)
c.1006A>G (p.Ser336Gly)
c.808A>G (p.Ser270Gly)
c.427A>G (p.Ser143Gly)
c.*928A>G (n.*928A>G)
n.3589A>G
c.907A>G (p.Ser303Gly)
c.*398A>G (n.*398A>G)
c.880A>G (p.Ser294Gly)
11g.128810635A>TCA383238828FLI1c.1027A>T (p.Ser343Cys)
c.1006A>T (p.Ser336Cys)
c.808A>T (p.Ser270Cys)
c.427A>T (p.Ser143Cys)
c.*928A>T (n.*928A>T)
n.3589A>T
c.907A>T (p.Ser303Cys)
c.*398A>T (n.*398A>T)
c.880A>T (p.Ser294Cys)
11g.128810636G>ACA383238831FLI1c.1028G>A (p.Ser343Asn)
c.1007G>A (p.Ser336Asn)
c.809G>A (p.Ser270Asn)
c.428G>A (p.Ser143Asn)
c.*929G>A (n.*929G>A)
n.3590G>A
c.908G>A (p.Ser303Asn)
c.*399G>A (n.*399G>A)
c.881G>A (p.Ser294Asn)
11g.128810636G>CCA383238830FLI1c.1028G>C (p.Ser343Thr)
c.1007G>C (p.Ser336Thr)
c.809G>C (p.Ser270Thr)
c.428G>C (p.Ser143Thr)
c.*929G>C (n.*929G>C)
n.3590G>C
c.908G>C (p.Ser303Thr)
c.*399G>C (n.*399G>C)
c.881G>C (p.Ser294Thr)
11g.128810636G>TCA383238829FLI1c.1028G>T (p.Ser343Ile)
c.1007G>T (p.Ser336Ile)
c.809G>T (p.Ser270Ile)
c.428G>T (p.Ser143Ile)
c.*929G>T (n.*929G>T)
n.3590G>T
c.908G>T (p.Ser303Ile)
c.*399G>T (n.*399G>T)
c.881G>T (p.Ser294Ile)
COSMIC
11g.128810637C>ACA383238832FLI1c.1029C>A (p.Ser343Arg)
c.1008C>A (p.Ser336Arg)
c.810C>A (p.Ser270Arg)
c.429C>A (p.Ser143Arg)
c.*930C>A (n.*930C>A)
n.3591C>A
c.909C>A (p.Ser303Arg)
c.*400C>A (n.*400C>A)
c.882C>A (p.Ser294Arg)
11g.128810637C=CA2008248397FLI1c.1029C= (p.Ser343=)
c.1008C= (p.Ser336=)
c.810C= (p.Ser270=)
c.429C= (p.Ser143=)
c.*930C= (n.*930C=)
n.3591C=
c.909C= (p.Ser303=)
c.*400C= (n.*400C=)
c.882C= (p.Ser294=)
11g.128810637C>GCA383238833FLI1c.1029C>G (p.Ser343Arg)
c.1008C>G (p.Ser336Arg)
c.810C>G (p.Ser270Arg)
c.429C>G (p.Ser143Arg)
c.*930C>G (n.*930C>G)
n.3591C>G
c.909C>G (p.Ser303Arg)
c.*400C>G (n.*400C>G)
c.882C>G (p.Ser294Arg)
11g.128810637C>TCA477702610FLI1c.1029C>T (p.Ser343=)
c.1008C>T (p.Ser336=)
c.810C>T (p.Ser270=)
c.429C>T (p.Ser143=)
c.*930C>T (n.*930C>T)
n.3591C>T
c.909C>T (p.Ser303=)
c.*400C>T (n.*400C>T)
c.882C>T (p.Ser294=)
dbSNP gnomAD v4
11g.128810638C>ACA477702611FLI1c.1030C>A (p.Arg344=)
c.1009C>A (p.Arg337=)
c.811C>A (p.Arg271=)
c.430C>A (p.Arg144=)
c.*931C>A (n.*931C>A)
n.3592C>A
c.910C>A (p.Arg304=)
c.*401C>A (n.*401C>A)
c.883C>A (p.Arg295=)
11g.128810638C=CA2008248399FLI1c.1030C= (p.Arg344=)
c.1009C= (p.Arg337=)
c.811C= (p.Arg271=)
c.430C= (p.Arg144=)
c.*931C= (n.*931C=)
n.3592C=
c.910C= (p.Arg304=)
c.*401C= (n.*401C=)
c.883C= (p.Arg295=)
11g.128810638C>GCA383238834FLI1c.1030C>G (p.Arg344Gly)
c.1009C>G (p.Arg337Gly)
c.811C>G (p.Arg271Gly)
c.430C>G (p.Arg144Gly)
c.*931C>G (n.*931C>G)
n.3592C>G
c.910C>G (p.Arg304Gly)
c.*401C>G (n.*401C>G)
c.883C>G (p.Arg295Gly)
11g.128810638C>TCA16621533FLI1c.1030C>T (p.Arg344Trp)
c.1009C>T (p.Arg337Trp)
c.811C>T (p.Arg271Trp)
c.430C>T (p.Arg144Trp)
c.*931C>T (n.*931C>T)
n.3592C>T
c.910C>T (p.Arg304Trp)
c.*401C>T (n.*401C>T)
c.883C>T (p.Arg295Trp)
ClinVar dbSNP
11g.128810639G>ACA16621536FLI1c.1031G>A (p.Arg344Gln)
c.1010G>A (p.Arg337Gln)
c.812G>A (p.Arg271Gln)
c.431G>A (p.Arg144Gln)
c.*932G>A (n.*932G>A)
n.3593G>A
c.911G>A (p.Arg304Gln)
c.*402G>A (n.*402G>A)
c.884G>A (p.Arg295Gln)
ClinVar dbSNP
11g.128810639G>CCA383238835FLI1c.1031G>C (p.Arg344Pro)
c.1010G>C (p.Arg337Pro)
c.812G>C (p.Arg271Pro)
c.431G>C (p.Arg144Pro)
c.*932G>C (n.*932G>C)
n.3593G>C
c.911G>C (p.Arg304Pro)
c.*402G>C (n.*402G>C)
c.884G>C (p.Arg295Pro)
11g.128810639G=CA2008248407FLI1c.1031G= (p.Arg344=)
c.1010G= (p.Arg337=)
c.812G= (p.Arg271=)
c.431G= (p.Arg144=)
c.*932G= (n.*932G=)
n.3593G=
c.911G= (p.Arg304=)
c.*402G= (n.*402G=)
c.884G= (p.Arg295=)
11g.128810639G>TCA383238836FLI1c.1031G>T (p.Arg344Leu)
c.1010G>T (p.Arg337Leu)
c.812G>T (p.Arg271Leu)
c.431G>T (p.Arg144Leu)
c.*932G>T (n.*932G>T)
n.3593G>T
c.911G>T (p.Arg304Leu)
c.*402G>T (n.*402G>T)
c.884G>T (p.Arg295Leu)
11g.128810640G>ACA6357301FLI1c.1032G>A (p.Arg344=)
c.1011G>A (p.Arg337=)
c.813G>A (p.Arg271=)
c.432G>A (p.Arg144=)
c.*933G>A (n.*933G>A)
n.3594G>A
c.912G>A (p.Arg304=)
c.*403G>A (n.*403G>A)
c.885G>A (p.Arg295=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.128810640G>CCA477702613FLI1c.1032G>C (p.Arg344=)
c.1011G>C (p.Arg337=)
c.813G>C (p.Arg271=)
c.432G>C (p.Arg144=)
c.*933G>C (n.*933G>C)
n.3594G>C
c.912G>C (p.Arg304=)
c.*403G>C (n.*403G>C)
c.885G>C (p.Arg295=)
11g.128810640G=CA2008248412FLI1c.1032G= (p.Arg344=)
c.1011G= (p.Arg337=)
c.813G= (p.Arg271=)
c.432G= (p.Arg144=)
c.*933G= (n.*933G=)
n.3594G=
c.912G= (p.Arg304=)
c.*403G= (n.*403G=)
c.885G= (p.Arg295=)
11g.128810640G>TCA477702612FLI1c.1032G>T (p.Arg344=)
c.1011G>T (p.Arg337=)
c.813G>T (p.Arg271=)
c.432G>T (p.Arg144=)
c.*933G>T (n.*933G>T)
n.3594G>T
c.912G>T (p.Arg304=)
c.*403G>T (n.*403G>T)
c.885G>T (p.Arg295=)
11g.128810641G>ACA383238838FLI1c.1033G>A (p.Ala345Thr)
c.1012G>A (p.Ala338Thr)
c.814G>A (p.Ala272Thr)
c.433G>A (p.Ala145Thr)
c.*934G>A (n.*934G>A)
n.3595G>A
c.913G>A (p.Ala305Thr)
c.*404G>A (n.*404G>A)
c.886G>A (p.Ala296Thr)
11g.128810641G>CCA383238837FLI1c.1033G>C (p.Ala345Pro)
c.1012G>C (p.Ala338Pro)
c.814G>C (p.Ala272Pro)
c.433G>C (p.Ala145Pro)
c.*934G>C (n.*934G>C)
n.3595G>C
c.913G>C (p.Ala305Pro)
c.*404G>C (n.*404G>C)
c.886G>C (p.Ala296Pro)
11g.128810641G>TCA383238839FLI1c.1033G>T (p.Ala345Ser)
c.1012G>T (p.Ala338Ser)
c.814G>T (p.Ala272Ser)
c.433G>T (p.Ala145Ser)
c.*934G>T (n.*934G>T)
n.3595G>T
c.913G>T (p.Ala305Ser)
c.*404G>T (n.*404G>T)
c.886G>T (p.Ala296Ser)
COSMIC
11g.128810642C>ACA383238840FLI1c.1034C>A (p.Ala345Asp)
c.1013C>A (p.Ala338Asp)
c.815C>A (p.Ala272Asp)
c.434C>A (p.Ala145Asp)
c.*935C>A (n.*935C>A)
n.3596C>A
c.914C>A (p.Ala305Asp)
c.*405C>A (n.*405C>A)
c.887C>A (p.Ala296Asp)
11g.128810642C>GCA383238841FLI1c.1034C>G (p.Ala345Gly)
c.1013C>G (p.Ala338Gly)
c.815C>G (p.Ala272Gly)
c.434C>G (p.Ala145Gly)
c.*935C>G (n.*935C>G)
n.3596C>G
c.914C>G (p.Ala305Gly)
c.*405C>G (n.*405C>G)
c.887C>G (p.Ala296Gly)
11g.128810642C>TCA383238842FLI1c.1034C>T (p.Ala345Val)
c.1013C>T (p.Ala338Val)
c.815C>T (p.Ala272Val)
c.434C>T (p.Ala145Val)
c.*935C>T (n.*935C>T)
n.3596C>T
c.914C>T (p.Ala305Val)
c.*405C>T (n.*405C>T)
c.887C>T (p.Ala296Val)
11g.128810644delCA912971751FLI1c.1036del (p.Leu346SerfsTer10)
c.1015del (p.Leu339SerfsTer10)
c.817del (p.Leu273SerfsTer10)
c.436del (p.Leu146SerfsTer10)
c.*937del (n.*937del)
n.3598del
c.916del (p.Leu306SerfsTer10)
c.*407del (n.*407del)
c.889del (p.Leu297SerfsTer10)
11g.128810643C>ACA477702616FLI1c.1035C>A (p.Ala345=)
c.1014C>A (p.Ala338=)
c.816C>A (p.Ala272=)
c.435C>A (p.Ala145=)
c.*936C>A (n.*936C>A)
n.3597C>A
c.915C>A (p.Ala305=)
c.*406C>A (n.*406C>A)
c.888C>A (p.Ala296=)
ClinVar dbSNP gnomAD v3 gnomAD v4
11g.128810643C=CA2008248417FLI1c.1035C= (p.Ala345=)
c.1014C= (p.Ala338=)
c.816C= (p.Ala272=)
c.435C= (p.Ala145=)
c.*936C= (n.*936C=)
n.3597C=
c.915C= (p.Ala305=)
c.*406C= (n.*406C=)
c.888C= (p.Ala296=)
11g.128810643C>GCA477702615FLI1c.1035C>G (p.Ala345=)
c.1014C>G (p.Ala338=)
c.816C>G (p.Ala272=)
c.435C>G (p.Ala145=)
c.*936C>G (n.*936C>G)
n.3597C>G
c.915C>G (p.Ala305=)
c.*406C>G (n.*406C>G)
c.888C>G (p.Ala296=)
11g.128810643C>TCA477702614FLI1c.1035C>T (p.Ala345=)
c.1014C>T (p.Ala338=)
c.816C>T (p.Ala272=)
c.435C>T (p.Ala145=)
c.*936C>T (n.*936C>T)
n.3597C>T
c.915C>T (p.Ala305=)
c.*406C>T (n.*406C>T)
c.888C>T (p.Ala296=)
11g.128810644C>ACA383238843FLI1c.1036C>A (p.Leu346Ile)
c.1015C>A (p.Leu339Ile)
c.817C>A (p.Leu273Ile)
c.436C>A (p.Leu146Ile)
c.*937C>A (n.*937C>A)
n.3598C>A
c.916C>A (p.Leu306Ile)
c.*407C>A (n.*407C>A)
c.889C>A (p.Leu297Ile)
gnomAD v4
11g.128810644C>GCA383238844FLI1c.1036C>G (p.Leu346Val)
c.1015C>G (p.Leu339Val)
c.817C>G (p.Leu273Val)
c.436C>G (p.Leu146Val)
c.*937C>G (n.*937C>G)
n.3598C>G
c.916C>G (p.Leu306Val)
c.*407C>G (n.*407C>G)
c.889C>G (p.Leu297Val)
11g.128810644C>TCA383238845FLI1c.1036C>T (p.Leu346Phe)
c.1015C>T (p.Leu339Phe)
c.817C>T (p.Leu273Phe)
c.436C>T (p.Leu146Phe)
c.*937C>T (n.*937C>T)
n.3598C>T
c.916C>T (p.Leu306Phe)
c.*407C>T (n.*407C>T)
c.889C>T (p.Leu297Phe)
gnomAD v4
11g.128810645T>ACA383238846FLI1c.1037T>A (p.Leu346His)
c.1016T>A (p.Leu339His)
c.818T>A (p.Leu273His)
c.437T>A (p.Leu146His)
c.*938T>A (n.*938T>A)
n.3599T>A
c.917T>A (p.Leu306His)
c.*408T>A (n.*408T>A)
c.890T>A (p.Leu297His)
11g.128810645T>CCA383238847FLI1c.1037T>C (p.Leu346Pro)
c.1016T>C (p.Leu339Pro)
c.818T>C (p.Leu273Pro)
c.437T>C (p.Leu146Pro)
c.*938T>C (n.*938T>C)
n.3599T>C
c.917T>C (p.Leu306Pro)
c.*408T>C (n.*408T>C)
c.890T>C (p.Leu297Pro)
11g.128810645T>GCA383238848FLI1c.1037T>G (p.Leu346Arg)
c.1016T>G (p.Leu339Arg)
c.818T>G (p.Leu273Arg)
c.437T>G (p.Leu146Arg)
c.*938T>G (n.*938T>G)
n.3599T>G
c.917T>G (p.Leu306Arg)
c.*408T>G (n.*408T>G)
c.890T>G (p.Leu297Arg)
11g.128810646C>ACA477702617FLI1c.1038C>A (p.Leu346=)
c.1017C>A (p.Leu339=)
c.819C>A (p.Leu273=)
c.438C>A (p.Leu146=)
c.*939C>A (n.*939C>A)
n.3600C>A
c.918C>A (p.Leu306=)
c.*409C>A (n.*409C>A)
c.891C>A (p.Leu297=)
11g.128810646C=CA2008248421FLI1c.1038C= (p.Leu346=)
c.1017C= (p.Leu339=)
c.819C= (p.Leu273=)
c.438C= (p.Leu146=)
c.*939C= (n.*939C=)
n.3600C=
c.918C= (p.Leu306=)
c.*409C= (n.*409C=)
c.891C= (p.Leu297=)
11g.128810646C>GCA477702619FLI1c.1038C>G (p.Leu346=)
c.1017C>G (p.Leu339=)
c.819C>G (p.Leu273=)
c.438C>G (p.Leu146=)
c.*939C>G (n.*939C>G)
n.3600C>G
c.918C>G (p.Leu306=)
c.*409C>G (n.*409C>G)
c.891C>G (p.Leu297=)
11g.128810646C>TCA477702618FLI1c.1038C>T (p.Leu346=)
c.1017C>T (p.Leu339=)
c.819C>T (p.Leu273=)
c.438C>T (p.Leu146=)
c.*939C>T (n.*939C>T)
n.3600C>T
c.918C>T (p.Leu306=)
c.*409C>T (n.*409C>T)
c.891C>T (p.Leu297=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.128810647C>ACA383238849FLI1c.1039C>A (p.Arg347Ser)
c.1018C>A (p.Arg340Ser)
c.820C>A (p.Arg274Ser)
c.439C>A (p.Arg147Ser)
c.*940C>A (n.*940C>A)
n.3601C>A
c.919C>A (p.Arg307Ser)
c.*410C>A (n.*410C>A)
c.892C>A (p.Arg298Ser)
11g.128810647C=CA2008248425FLI1c.1039C= (p.Arg347=)
c.1018C= (p.Arg340=)
c.820C= (p.Arg274=)
c.439C= (p.Arg147=)
c.*940C= (n.*940C=)
n.3601C=
c.919C= (p.Arg307=)
c.*410C= (n.*410C=)
c.892C= (p.Arg298=)
11g.128810647C>GCA383238850FLI1c.1039C>G (p.Arg347Gly)
c.1018C>G (p.Arg340Gly)
c.820C>G (p.Arg274Gly)
c.439C>G (p.Arg147Gly)
c.*940C>G (n.*940C>G)
n.3601C>G
c.919C>G (p.Arg307Gly)
c.*410C>G (n.*410C>G)
c.892C>G (p.Arg298Gly)
11g.128810647C>TCA383238851FLI1c.1039C>T (p.Arg347Cys)
c.1018C>T (p.Arg340Cys)
c.820C>T (p.Arg274Cys)
c.439C>T (p.Arg147Cys)
c.*940C>T (n.*940C>T)
n.3601C>T
c.919C>T (p.Arg307Cys)
c.*410C>T (n.*410C>T)
c.892C>T (p.Arg298Cys)
dbSNP
11g.128810648G>ACA383238854FLI1c.1040G>A (p.Arg347His)
c.1019G>A (p.Arg340His)
c.821G>A (p.Arg274His)
c.440G>A (p.Arg147His)
c.*941G>A (n.*941G>A)
n.3602G>A
c.920G>A (p.Arg307His)
c.*411G>A (n.*411G>A)
c.893G>A (p.Arg298His)
ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
11g.128810648G>CCA383238852FLI1c.1040G>C (p.Arg347Pro)
c.1019G>C (p.Arg340Pro)
c.821G>C (p.Arg274Pro)
c.440G>C (p.Arg147Pro)
c.*941G>C (n.*941G>C)
n.3602G>C
c.920G>C (p.Arg307Pro)
c.*411G>C (n.*411G>C)
c.893G>C (p.Arg298Pro)
ClinVar dbSNP
11g.128810648G=CA2008248429FLI1c.1040G= (p.Arg347=)
c.1019G= (p.Arg340=)
c.821G= (p.Arg274=)
c.440G= (p.Arg147=)
c.*941G= (n.*941G=)
n.3602G=
c.920G= (p.Arg307=)
c.*411G= (n.*411G=)
c.893G= (p.Arg298=)
11g.128810648G>TCA383238853FLI1c.1040G>T (p.Arg347Leu)
c.1019G>T (p.Arg340Leu)
c.821G>T (p.Arg274Leu)
c.440G>T (p.Arg147Leu)
c.*941G>T (n.*941G>T)
n.3602G>T
c.920G>T (p.Arg307Leu)
c.*411G>T (n.*411G>T)
c.893G>T (p.Arg298Leu)
11g.128810649T>ACA477702620FLI1c.1041T>A (p.Arg347=)
c.1020T>A (p.Arg340=)
c.822T>A (p.Arg274=)
c.441T>A (p.Arg147=)
c.*942T>A (n.*942T>A)
n.3603T>A
c.921T>A (p.Arg307=)
c.*412T>A (n.*412T>A)
c.894T>A (p.Arg298=)
11g.128810649T>CCA477702621FLI1c.1041T>C (p.Arg347=)
c.1020T>C (p.Arg340=)
c.822T>C (p.Arg274=)
c.441T>C (p.Arg147=)
c.*942T>C (n.*942T>C)
n.3603T>C
c.921T>C (p.Arg307=)
c.*412T>C (n.*412T>C)
c.894T>C (p.Arg298=)
11g.128810649T>GCA477702622FLI1c.1041T>G (p.Arg347=)
c.1020T>G (p.Arg340=)
c.822T>G (p.Arg274=)
c.441T>G (p.Arg147=)
c.*942T>G (n.*942T>G)
n.3603T>G
c.921T>G (p.Arg307=)
c.*412T>G (n.*412T>G)
c.894T>G (p.Arg298=)
11g.128810650T>ACA383238855FLI1c.1042T>A (p.Tyr348Asn)
c.1021T>A (p.Tyr341Asn)
c.823T>A (p.Tyr275Asn)
c.442T>A (p.Tyr148Asn)
c.*943T>A (n.*943T>A)
n.3604T>A
c.922T>A (p.Tyr308Asn)
c.*413T>A (n.*413T>A)
c.895T>A (p.Tyr299Asn)
11g.128810650T>CCA383238856FLI1c.1042T>C (p.Tyr348His)
c.1021T>C (p.Tyr341His)
c.823T>C (p.Tyr275His)
c.442T>C (p.Tyr148His)
c.*943T>C (n.*943T>C)
n.3604T>C
c.922T>C (p.Tyr308His)
c.*413T>C (n.*413T>C)
c.895T>C (p.Tyr299His)
11g.128810650T>GCA383238857FLI1c.1042T>G (p.Tyr348Asp)
c.1021T>G (p.Tyr341Asp)
c.823T>G (p.Tyr275Asp)
c.442T>G (p.Tyr148Asp)
c.*943T>G (n.*943T>G)
n.3604T>G
c.922T>G (p.Tyr308Asp)
c.*413T>G (n.*413T>G)
c.895T>G (p.Tyr299Asp)
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)

Number of alleles fetched