Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.128810447_128810450delCA2794082360FLI1c.851-12_851-9del (n.851-12_851-9del)
c.830-12_830-9del (n.830-12_830-9del)
c.632-12_632-9del (n.632-12_632-9del)
c.251-12_251-9del (n.251-12_251-9del)
c.*752-12_*752-9del (n.*752-12_*752-9del)
n.3413-12_3413-9del
c.731-12_731-9del (n.731-12_731-9del)
c.*222-12_*222-9del (n.*222-12_*222-9del)
c.704-12_704-9del (n.704-12_704-9del)
11g.128810450G>ACA602585817FLI1c.851-9G>A (n.851-9G>A)
c.830-9G>A (n.830-9G>A)
c.632-9G>A (n.632-9G>A)
c.251-9G>A (n.251-9G>A)
c.*752-9G>A (n.*752-9G>A)
n.3413-9G>A
c.731-9G>A (n.731-9G>A)
c.*222-9G>A (n.*222-9G>A)
c.704-9G>A (n.704-9G>A)
dbSNP gnomAD v2 gnomAD v4
11g.128810450G>CCA2575039704FLI1c.851-9G>C (n.851-9G>C)
c.830-9G>C (n.830-9G>C)
c.632-9G>C (n.632-9G>C)
c.251-9G>C (n.251-9G>C)
c.*752-9G>C (n.*752-9G>C)
n.3413-9G>C
c.731-9G>C (n.731-9G>C)
c.*222-9G>C (n.*222-9G>C)
c.704-9G>C (n.704-9G>C)
11g.128810450G=CA2008248118FLI1c.851-9G= (n.851-9G=)
c.830-9G= (n.830-9G=)
c.632-9G= (n.632-9G=)
c.251-9G= (n.251-9G=)
c.*752-9G= (n.*752-9G=)
n.3413-9G=
c.731-9G= (n.731-9G=)
c.*222-9G= (n.*222-9G=)
c.704-9G= (n.704-9G=)
11g.128810450G>TCA6357277FLI1c.851-9G>T (n.851-9G>T)
c.830-9G>T (n.830-9G>T)
c.632-9G>T (n.632-9G>T)
c.251-9G>T (n.251-9G>T)
c.*752-9G>T (n.*752-9G>T)
n.3413-9G>T
c.731-9G>T (n.731-9G>T)
c.*222-9G>T (n.*222-9G>T)
c.704-9G>T (n.704-9G>T)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.128810451G>ACA645596346FLI1c.851-8G>A (n.851-8G>A)
c.830-8G>A (n.830-8G>A)
c.632-8G>A (n.632-8G>A)
c.251-8G>A (n.251-8G>A)
c.*752-8G>A (n.*752-8G>A)
n.3413-8G>A
c.731-8G>A (n.731-8G>A)
c.*222-8G>A (n.*222-8G>A)
c.704-8G>A (n.704-8G>A)
gnomAD v4 COSMIC COSMIC
11g.128810452C>ACA2616769108FLI1c.851-7C>A (n.851-7C>A)
c.830-7C>A (n.830-7C>A)
c.632-7C>A (n.632-7C>A)
c.251-7C>A (n.251-7C>A)
c.*752-7C>A (n.*752-7C>A)
n.3413-7C>A
c.731-7C>A (n.731-7C>A)
c.*222-7C>A (n.*222-7C>A)
c.704-7C>A (n.704-7C>A)
gnomAD v4
11g.128810452C=CA2008248120FLI1c.851-7C= (n.851-7C=)
c.830-7C= (n.830-7C=)
c.632-7C= (n.632-7C=)
c.251-7C= (n.251-7C=)
c.*752-7C= (n.*752-7C=)
n.3413-7C=
c.731-7C= (n.731-7C=)
c.*222-7C= (n.*222-7C=)
c.704-7C= (n.704-7C=)
11g.128810452C>GCA2616769107FLI1c.851-7C>G (n.851-7C>G)
c.830-7C>G (n.830-7C>G)
c.632-7C>G (n.632-7C>G)
c.251-7C>G (n.251-7C>G)
c.*752-7C>G (n.*752-7C>G)
n.3413-7C>G
c.731-7C>G (n.731-7C>G)
c.*222-7C>G (n.*222-7C>G)
c.704-7C>G (n.704-7C>G)
gnomAD v4
11g.128810452C>TCA6357278FLI1c.851-7C>T (n.851-7C>T)
c.830-7C>T (n.830-7C>T)
c.632-7C>T (n.632-7C>T)
c.251-7C>T (n.251-7C>T)
c.*752-7C>T (n.*752-7C>T)
n.3413-7C>T
c.731-7C>T (n.731-7C>T)
c.*222-7C>T (n.*222-7C>T)
c.704-7C>T (n.704-7C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.128810453G>ACA6357279FLI1c.851-6G>A (n.851-6G>A)
c.830-6G>A (n.830-6G>A)
c.632-6G>A (n.632-6G>A)
c.251-6G>A (n.251-6G>A)
c.*752-6G>A (n.*752-6G>A)
n.3413-6G>A
c.731-6G>A (n.731-6G>A)
c.*222-6G>A (n.*222-6G>A)
c.704-6G>A (n.704-6G>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
11g.128810453G>CCA2724944743FLI1c.851-6G>C (n.851-6G>C)
c.830-6G>C (n.830-6G>C)
c.632-6G>C (n.632-6G>C)
c.251-6G>C (n.251-6G>C)
c.*752-6G>C (n.*752-6G>C)
n.3413-6G>C
c.731-6G>C (n.731-6G>C)
c.*222-6G>C (n.*222-6G>C)
c.704-6G>C (n.704-6G>C)
dbSNP
11g.128810453G=CA2008248126FLI1c.851-6G= (n.851-6G=)
c.830-6G= (n.830-6G=)
c.632-6G= (n.632-6G=)
c.251-6G= (n.251-6G=)
c.*752-6G= (n.*752-6G=)
n.3413-6G=
c.731-6G= (n.731-6G=)
c.*222-6G= (n.*222-6G=)
c.704-6G= (n.704-6G=)
11g.128810453G>TCA2616769109FLI1c.851-6G>T (n.851-6G>T)
c.830-6G>T (n.830-6G>T)
c.632-6G>T (n.632-6G>T)
c.251-6G>T (n.251-6G>T)
c.*752-6G>T (n.*752-6G>T)
n.3413-6G>T
c.731-6G>T (n.731-6G>T)
c.*222-6G>T (n.*222-6G>T)
c.704-6G>T (n.704-6G>T)
gnomAD v4
11g.128810454T>CCA2616769110FLI1c.851-5T>C (n.851-5T>C)
c.830-5T>C (n.830-5T>C)
c.632-5T>C (n.632-5T>C)
c.251-5T>C (n.251-5T>C)
c.*752-5T>C (n.*752-5T>C)
n.3413-5T>C
c.731-5T>C (n.731-5T>C)
c.*222-5T>C (n.*222-5T>C)
c.704-5T>C (n.704-5T>C)
gnomAD v4
11g.128810455G>ACA2616769111FLI1c.851-4G>A (n.851-4G>A)
c.830-4G>A (n.830-4G>A)
c.632-4G>A (n.632-4G>A)
c.251-4G>A (n.251-4G>A)
c.*752-4G>A (n.*752-4G>A)
n.3413-4G>A
c.731-4G>A (n.731-4G>A)
c.*222-4G>A (n.*222-4G>A)
c.704-4G>A (n.704-4G>A)
gnomAD v4
11g.128810455G>CCA2616769112FLI1c.851-4G>C (n.851-4G>C)
c.830-4G>C (n.830-4G>C)
c.632-4G>C (n.632-4G>C)
c.251-4G>C (n.251-4G>C)
c.*752-4G>C (n.*752-4G>C)
n.3413-4G>C
c.731-4G>C (n.731-4G>C)
c.*222-4G>C (n.*222-4G>C)
c.704-4G>C (n.704-4G>C)
gnomAD v4
11g.128810455G>TCA2616769113FLI1c.851-4G>T (n.851-4G>T)
c.830-4G>T (n.830-4G>T)
c.632-4G>T (n.632-4G>T)
c.251-4G>T (n.251-4G>T)
c.*752-4G>T (n.*752-4G>T)
n.3413-4G>T
c.731-4G>T (n.731-4G>T)
c.*222-4G>T (n.*222-4G>T)
c.704-4G>T (n.704-4G>T)
gnomAD v4
11g.128810456C>ACA2616769114FLI1c.851-3C>A (n.851-3C>A)
c.830-3C>A (n.830-3C>A)
c.632-3C>A (n.632-3C>A)
c.251-3C>A (n.251-3C>A)
c.*752-3C>A (n.*752-3C>A)
n.3413-3C>A
c.731-3C>A (n.731-3C>A)
c.*222-3C>A (n.*222-3C>A)
c.704-3C>A (n.704-3C>A)
gnomAD v4
11g.128810456C=CA2008248129FLI1c.851-3C= (n.851-3C=)
c.830-3C= (n.830-3C=)
c.632-3C= (n.632-3C=)
c.251-3C= (n.251-3C=)
c.*752-3C= (n.*752-3C=)
n.3413-3C=
c.731-3C= (n.731-3C=)
c.*222-3C= (n.*222-3C=)
c.704-3C= (n.704-3C=)
11g.128810456C>TCA230604794FLI1c.851-3C>T (n.851-3C>T)
c.830-3C>T (n.830-3C>T)
c.632-3C>T (n.632-3C>T)
c.251-3C>T (n.251-3C>T)
c.*752-3C>T (n.*752-3C>T)
n.3413-3C>T
c.731-3C>T (n.731-3C>T)
c.*222-3C>T (n.*222-3C>T)
c.704-3C>T (n.704-3C>T)
dbSNP gnomAD v4
11g.128810457A>CCA383238408FLI1c.851-2A>C (n.851-2A>C)
c.830-2A>C (n.830-2A>C)
c.632-2A>C (n.632-2A>C)
c.251-2A>C (n.251-2A>C)
c.*752-2A>C (n.*752-2A>C)
n.3413-2A>C
c.731-2A>C (n.731-2A>C)
c.*222-2A>C (n.*222-2A>C)
c.704-2A>C (n.704-2A>C)
11g.128810457A>GCA383238409FLI1c.851-2A>G (n.851-2A>G)
c.830-2A>G (n.830-2A>G)
c.632-2A>G (n.632-2A>G)
c.251-2A>G (n.251-2A>G)
c.*752-2A>G (n.*752-2A>G)
n.3413-2A>G
c.731-2A>G (n.731-2A>G)
c.*222-2A>G (n.*222-2A>G)
c.704-2A>G (n.704-2A>G)
gnomAD v4
11g.128810457A>TCA383238410FLI1c.851-2A>T (n.851-2A>T)
c.830-2A>T (n.830-2A>T)
c.632-2A>T (n.632-2A>T)
c.251-2A>T (n.251-2A>T)
c.*752-2A>T (n.*752-2A>T)
n.3413-2A>T
c.731-2A>T (n.731-2A>T)
c.*222-2A>T (n.*222-2A>T)
c.704-2A>T (n.704-2A>T)
gnomAD v4
11g.128810458G>ACA383238413FLI1c.851-1G>A (n.851-1G>A)
c.830-1G>A (n.830-1G>A)
c.632-1G>A (n.632-1G>A)
c.251-1G>A (n.251-1G>A)
c.*752-1G>A (n.*752-1G>A)
n.3413-1G>A
c.731-1G>A (n.731-1G>A)
c.*222-1G>A (n.*222-1G>A)
c.704-1G>A (n.704-1G>A)
gnomAD v4
11g.128810458G>CCA383238412FLI1c.851-1G>C (n.851-1G>C)
c.830-1G>C (n.830-1G>C)
c.632-1G>C (n.632-1G>C)
c.251-1G>C (n.251-1G>C)
c.*752-1G>C (n.*752-1G>C)
n.3413-1G>C
c.731-1G>C (n.731-1G>C)
c.*222-1G>C (n.*222-1G>C)
c.704-1G>C (n.704-1G>C)
11g.128810458G>TCA383238411FLI1c.851-1G>T (n.851-1G>T)
c.830-1G>T (n.830-1G>T)
c.632-1G>T (n.632-1G>T)
c.251-1G>T (n.251-1G>T)
c.*752-1G>T (n.*752-1G>T)
n.3413-1G>T
c.731-1G>T (n.731-1G>T)
c.*222-1G>T (n.*222-1G>T)
c.704-1G>T (n.704-1G>T)
gnomAD v4
11g.128810459G>ACA383238415FLI1c.851G>A (p.Gly284Glu)
c.830G>A (p.Gly277Glu)
c.632G>A (p.Gly211Glu)
c.251G>A (p.Gly84Glu)
c.*752G>A (n.*752G>A)
n.3413G>A
c.731G>A (p.Gly244Glu)
c.*222G>A (n.*222G>A)
c.704G>A (p.Gly235Glu)
gnomAD v4
11g.128810459G>CCA383238414FLI1c.851G>C (p.Gly284Ala)
c.830G>C (p.Gly277Ala)
c.632G>C (p.Gly211Ala)
c.251G>C (p.Gly84Ala)
c.*752G>C (n.*752G>C)
n.3413G>C
c.731G>C (p.Gly244Ala)
c.*222G>C (n.*222G>C)
c.704G>C (p.Gly235Ala)
11g.128810459G>TCA383238416FLI1c.851G>T (p.Gly284Val)
c.830G>T (p.Gly277Val)
c.632G>T (p.Gly211Val)
c.251G>T (p.Gly84Val)
c.*752G>T (n.*752G>T)
n.3413G>T
c.731G>T (p.Gly244Val)
c.*222G>T (n.*222G>T)
c.704G>T (p.Gly235Val)
gnomAD v4
11g.128810460A>CCA477702251FLI1c.852A>C (p.Gly284=)
c.831A>C (p.Gly277=)
c.633A>C (p.Gly211=)
c.252A>C (p.Gly84=)
c.*753A>C (n.*753A>C)
n.3414A>C
c.732A>C (p.Gly244=)
c.*223A>C (n.*223A>C)
c.705A>C (p.Gly235=)
11g.128810460A>GCA477702253FLI1c.852A>G (p.Gly284=)
c.831A>G (p.Gly277=)
c.633A>G (p.Gly211=)
c.252A>G (p.Gly84=)
c.*753A>G (n.*753A>G)
n.3414A>G
c.732A>G (p.Gly244=)
c.*223A>G (n.*223A>G)
c.705A>G (p.Gly235=)
11g.128810460A>TCA477702252FLI1c.852A>T (p.Gly284=)
c.831A>T (p.Gly277=)
c.633A>T (p.Gly211=)
c.252A>T (p.Gly84=)
c.*753A>T (n.*753A>T)
n.3414A>T
c.732A>T (p.Gly244=)
c.*223A>T (n.*223A>T)
c.705A>T (p.Gly235=)
11g.128810461A>CCA383238417FLI1c.853A>C (p.Ser285Arg)
c.832A>C (p.Ser278Arg)
c.634A>C (p.Ser212Arg)
c.253A>C (p.Ser85Arg)
c.*754A>C (n.*754A>C)
n.3415A>C
c.733A>C (p.Ser245Arg)
c.*224A>C (n.*224A>C)
c.706A>C (p.Ser236Arg)
11g.128810461A>GCA383238418FLI1c.853A>G (p.Ser285Gly)
c.832A>G (p.Ser278Gly)
c.634A>G (p.Ser212Gly)
c.253A>G (p.Ser85Gly)
c.*754A>G (n.*754A>G)
n.3415A>G
c.733A>G (p.Ser245Gly)
c.*224A>G (n.*224A>G)
c.706A>G (p.Ser236Gly)
11g.128810461A>TCA383238419FLI1c.853A>T (p.Ser285Cys)
c.832A>T (p.Ser278Cys)
c.634A>T (p.Ser212Cys)
c.253A>T (p.Ser85Cys)
c.*754A>T (n.*754A>T)
n.3415A>T
c.733A>T (p.Ser245Cys)
c.*224A>T (n.*224A>T)
c.706A>T (p.Ser236Cys)
11g.128810462G>ACA383238420FLI1c.854G>A (p.Ser285Asn)
c.833G>A (p.Ser278Asn)
c.635G>A (p.Ser212Asn)
c.254G>A (p.Ser85Asn)
c.*755G>A (n.*755G>A)
n.3416G>A
c.734G>A (p.Ser245Asn)
c.*225G>A (n.*225G>A)
c.707G>A (p.Ser236Asn)
dbSNP gnomAD v4 COSMIC
11g.128810462G>CCA383238421FLI1c.854G>C (p.Ser285Thr)
c.833G>C (p.Ser278Thr)
c.635G>C (p.Ser212Thr)
c.254G>C (p.Ser85Thr)
c.*755G>C (n.*755G>C)
n.3416G>C
c.734G>C (p.Ser245Thr)
c.*225G>C (n.*225G>C)
c.707G>C (p.Ser236Thr)
11g.128810462G=CA2008248135FLI1c.854G= (p.Ser285=)
c.833G= (p.Ser278=)
c.635G= (p.Ser212=)
c.254G= (p.Ser85=)
c.*755G= (n.*755G=)
n.3416G=
c.734G= (p.Ser245=)
c.*225G= (n.*225G=)
c.707G= (p.Ser236=)
11g.128810462G>TCA383238422FLI1c.854G>T (p.Ser285Ile)
c.833G>T (p.Ser278Ile)
c.635G>T (p.Ser212Ile)
c.254G>T (p.Ser85Ile)
c.*755G>T (n.*755G>T)
n.3416G>T
c.734G>T (p.Ser245Ile)
c.*225G>T (n.*225G>T)
c.707G>T (p.Ser236Ile)
11g.128810463C>ACA383238423FLI1c.855C>A (p.Ser285Arg)
c.834C>A (p.Ser278Arg)
c.636C>A (p.Ser212Arg)
c.255C>A (p.Ser85Arg)
c.*756C>A (n.*756C>A)
n.3417C>A
c.735C>A (p.Ser245Arg)
c.*226C>A (n.*226C>A)
c.708C>A (p.Ser236Arg)
ClinVar gnomAD v4
11g.128810463C=CA2008248141FLI1c.855C= (p.Ser285=)
c.834C= (p.Ser278=)
c.636C= (p.Ser212=)
c.255C= (p.Ser85=)
c.*756C= (n.*756C=)
n.3417C=
c.735C= (p.Ser245=)
c.*226C= (n.*226C=)
c.708C= (p.Ser236=)
11g.128810463C>GCA383238424FLI1c.855C>G (p.Ser285Arg)
c.834C>G (p.Ser278Arg)
c.636C>G (p.Ser212Arg)
c.255C>G (p.Ser85Arg)
c.*756C>G (n.*756C>G)
n.3417C>G
c.735C>G (p.Ser245Arg)
c.*226C>G (n.*226C>G)
c.708C>G (p.Ser236Arg)
11g.128810463C>TCA6357280FLI1c.855C>T (p.Ser285=)
c.834C>T (p.Ser278=)
c.636C>T (p.Ser212=)
c.255C>T (p.Ser85=)
c.*756C>T (n.*756C>T)
n.3417C>T
c.735C>T (p.Ser245=)
c.*226C>T (n.*226C>T)
c.708C>T (p.Ser236=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.128810464G>ACA383238425FLI1c.856G>A (p.Gly286Arg)
c.835G>A (p.Gly279Arg)
c.637G>A (p.Gly213Arg)
c.256G>A (p.Gly86Arg)
c.*757G>A (n.*757G>A)
n.3418G>A
c.736G>A (p.Gly246Arg)
c.*227G>A (n.*227G>A)
c.709G>A (p.Gly237Arg)
gnomAD v4
11g.128810464G>CCA383238426FLI1c.856G>C (p.Gly286Arg)
c.835G>C (p.Gly279Arg)
c.637G>C (p.Gly213Arg)
c.256G>C (p.Gly86Arg)
c.*757G>C (n.*757G>C)
n.3418G>C
c.736G>C (p.Gly246Arg)
c.*227G>C (n.*227G>C)
c.709G>C (p.Gly237Arg)
gnomAD v4
11g.128810464G=CA2008248146FLI1c.856G= (p.Gly286=)
c.835G= (p.Gly279=)
c.637G= (p.Gly213=)
c.256G= (p.Gly86=)
c.*757G= (n.*757G=)
n.3418G=
c.736G= (p.Gly246=)
c.*227G= (n.*227G=)
c.709G= (p.Gly237=)
11g.128810464G>TCA383238427FLI1c.856G>T (p.Gly286Trp)
c.835G>T (p.Gly279Trp)
c.637G>T (p.Gly213Trp)
c.256G>T (p.Gly86Trp)
c.*757G>T (n.*757G>T)
n.3418G>T
c.736G>T (p.Gly246Trp)
c.*227G>T (n.*227G>T)
c.709G>T (p.Gly237Trp)
dbSNP gnomAD v2 gnomAD v4
11g.128810465G>ACA383238429FLI1c.857G>A (p.Gly286Glu)
c.836G>A (p.Gly279Glu)
c.638G>A (p.Gly213Glu)
c.257G>A (p.Gly86Glu)
c.*758G>A (n.*758G>A)
n.3419G>A
c.737G>A (p.Gly246Glu)
c.*228G>A (n.*228G>A)
c.710G>A (p.Gly237Glu)
11g.128810465G>CCA383238430FLI1c.857G>C (p.Gly286Ala)
c.836G>C (p.Gly279Ala)
c.638G>C (p.Gly213Ala)
c.257G>C (p.Gly86Ala)
c.*758G>C (n.*758G>C)
n.3419G>C
c.737G>C (p.Gly246Ala)
c.*228G>C (n.*228G>C)
c.710G>C (p.Gly237Ala)
11g.128810465G>TCA383238428FLI1c.857G>T (p.Gly286Val)
c.836G>T (p.Gly279Val)
c.638G>T (p.Gly213Val)
c.257G>T (p.Gly86Val)
c.*758G>T (n.*758G>T)
n.3419G>T
c.737G>T (p.Gly246Val)
c.*228G>T (n.*228G>T)
c.710G>T (p.Gly237Val)
gnomAD v4
11g.128810466G>ACA477702256FLI1c.858G>A (p.Gly286=)
c.837G>A (p.Gly279=)
c.639G>A (p.Gly213=)
c.258G>A (p.Gly86=)
c.*759G>A (n.*759G>A)
n.3420G>A
c.738G>A (p.Gly246=)
c.*229G>A (n.*229G>A)
c.711G>A (p.Gly237=)
gnomAD v4
11g.128810466G>CCA477702257FLI1c.858G>C (p.Gly286=)
c.837G>C (p.Gly279=)
c.639G>C (p.Gly213=)
c.258G>C (p.Gly86=)
c.*759G>C (n.*759G>C)
n.3420G>C
c.738G>C (p.Gly246=)
c.*229G>C (n.*229G>C)
c.711G>C (p.Gly237=)
11g.128810466G>TCA477702258FLI1c.858G>T (p.Gly286=)
c.837G>T (p.Gly279=)
c.639G>T (p.Gly213=)
c.258G>T (p.Gly86=)
c.*759G>T (n.*759G>T)
n.3420G>T
c.738G>T (p.Gly246=)
c.*229G>T (n.*229G>T)
c.711G>T (p.Gly237=)
gnomAD v4
11g.128810467C>ACA383238431FLI1c.859C>A (p.Gln287Lys)
c.838C>A (p.Gln280Lys)
c.640C>A (p.Gln214Lys)
c.259C>A (p.Gln87Lys)
c.*760C>A (n.*760C>A)
n.3421C>A
c.739C>A (p.Gln247Lys)
c.*230C>A (n.*230C>A)
c.712C>A (p.Gln238Lys)
gnomAD v4
11g.128810467C>GCA383238432FLI1c.859C>G (p.Gln287Glu)
c.838C>G (p.Gln280Glu)
c.640C>G (p.Gln214Glu)
c.259C>G (p.Gln87Glu)
c.*760C>G (n.*760C>G)
n.3421C>G
c.739C>G (p.Gln247Glu)
c.*230C>G (n.*230C>G)
c.712C>G (p.Gln238Glu)
11g.128810467C>TCA383238433FLI1c.859C>T (p.Gln287Ter)
c.838C>T (p.Gln280Ter)
c.640C>T (p.Gln214Ter)
c.259C>T (p.Gln87Ter)
c.*760C>T (n.*760C>T)
n.3421C>T
c.739C>T (p.Gln247Ter)
c.*230C>T (n.*230C>T)
c.712C>T (p.Gln238Ter)
gnomAD v4
11g.128810468A>CCA383238434FLI1c.860A>C (p.Gln287Pro)
c.839A>C (p.Gln280Pro)
c.641A>C (p.Gln214Pro)
c.260A>C (p.Gln87Pro)
c.*761A>C (n.*761A>C)
n.3422A>C
c.740A>C (p.Gln247Pro)
c.*231A>C (n.*231A>C)
c.713A>C (p.Gln238Pro)
11g.128810468A>GCA383238435FLI1c.860A>G (p.Gln287Arg)
c.839A>G (p.Gln280Arg)
c.641A>G (p.Gln214Arg)
c.260A>G (p.Gln87Arg)
c.*761A>G (n.*761A>G)
n.3422A>G
c.740A>G (p.Gln247Arg)
c.*231A>G (n.*231A>G)
c.713A>G (p.Gln238Arg)
11g.128810468A>TCA383238436FLI1c.860A>T (p.Gln287Leu)
c.839A>T (p.Gln280Leu)
c.641A>T (p.Gln214Leu)
c.260A>T (p.Gln87Leu)
c.*761A>T (n.*761A>T)
n.3422A>T
c.740A>T (p.Gln247Leu)
c.*231A>T (n.*231A>T)
c.713A>T (p.Gln238Leu)
11g.128810469G>ACA477702259FLI1c.861G>A (p.Gln287=)
c.840G>A (p.Gln280=)
c.642G>A (p.Gln214=)
c.261G>A (p.Gln87=)
c.*762G>A (n.*762G>A)
n.3423G>A
c.741G>A (p.Gln247=)
c.*232G>A (n.*232G>A)
c.714G>A (p.Gln238=)
dbSNP
11g.128810469G>CCA383238437FLI1c.861G>C (p.Gln287His)
c.840G>C (p.Gln280His)
c.642G>C (p.Gln214His)
c.261G>C (p.Gln87His)
c.*762G>C (n.*762G>C)
n.3423G>C
c.741G>C (p.Gln247His)
c.*232G>C (n.*232G>C)
c.714G>C (p.Gln238His)
11g.128810469G>TCA383238438FLI1c.861G>T (p.Gln287His)
c.840G>T (p.Gln280His)
c.642G>T (p.Gln214His)
c.261G>T (p.Gln87His)
c.*762G>T (n.*762G>T)
n.3423G>T
c.741G>T (p.Gln247His)
c.*232G>T (n.*232G>T)
c.714G>T (p.Gln238His)
gnomAD v4
11g.128810470A=CA2008248149FLI1c.862A= (p.Ile288=)
c.841A= (p.Ile281=)
c.643A= (p.Ile215=)
c.262A= (p.Ile88=)
c.*763A= (n.*763A=)
n.3424A=
c.742A= (p.Ile248=)
c.*233A= (n.*233A=)
c.715A= (p.Ile239=)
11g.128810470A>CCA383238439FLI1c.862A>C (p.Ile288Leu)
c.841A>C (p.Ile281Leu)
c.643A>C (p.Ile215Leu)
c.262A>C (p.Ile88Leu)
c.*763A>C (n.*763A>C)
n.3424A>C
c.742A>C (p.Ile248Leu)
c.*233A>C (n.*233A>C)
c.715A>C (p.Ile239Leu)
11g.128810470A>GCA383238440FLI1c.862A>G (p.Ile288Val)
c.841A>G (p.Ile281Val)
c.643A>G (p.Ile215Val)
c.262A>G (p.Ile88Val)
c.*763A>G (n.*763A>G)
n.3424A>G
c.742A>G (p.Ile248Val)
c.*233A>G (n.*233A>G)
c.715A>G (p.Ile239Val)
dbSNP gnomAD v3 gnomAD v4
11g.128810470A>TCA383238441FLI1c.862A>T (p.Ile288Phe)
c.841A>T (p.Ile281Phe)
c.643A>T (p.Ile215Phe)
c.262A>T (p.Ile88Phe)
c.*763A>T (n.*763A>T)
n.3424A>T
c.742A>T (p.Ile248Phe)
c.*233A>T (n.*233A>T)
c.715A>T (p.Ile239Phe)
11g.128810471T>ACA383238442FLI1c.863T>A (p.Ile288Asn)
c.842T>A (p.Ile281Asn)
c.644T>A (p.Ile215Asn)
c.263T>A (p.Ile88Asn)
c.*764T>A (n.*764T>A)
n.3425T>A
c.743T>A (p.Ile248Asn)
c.*234T>A (n.*234T>A)
c.716T>A (p.Ile239Asn)
11g.128810471T>CCA383238443FLI1c.863T>C (p.Ile288Thr)
c.842T>C (p.Ile281Thr)
c.644T>C (p.Ile215Thr)
c.263T>C (p.Ile88Thr)
c.*764T>C (n.*764T>C)
n.3425T>C
c.743T>C (p.Ile248Thr)
c.*234T>C (n.*234T>C)
c.716T>C (p.Ile239Thr)
11g.128810471T>GCA383238444FLI1c.863T>G (p.Ile288Ser)
c.842T>G (p.Ile281Ser)
c.644T>G (p.Ile215Ser)
c.263T>G (p.Ile88Ser)
c.*764T>G (n.*764T>G)
n.3425T>G
c.743T>G (p.Ile248Ser)
c.*234T>G (n.*234T>G)
c.716T>G (p.Ile239Ser)
11g.128810472C>ACA477702261FLI1c.864C>A (p.Ile288=)
c.843C>A (p.Ile281=)
c.645C>A (p.Ile215=)
c.264C>A (p.Ile88=)
c.*765C>A (n.*765C>A)
n.3426C>A
c.744C>A (p.Ile248=)
c.*235C>A (n.*235C>A)
c.717C>A (p.Ile239=)
11g.128810472C>GCA383238445FLI1c.864C>G (p.Ile288Met)
c.843C>G (p.Ile281Met)
c.645C>G (p.Ile215Met)
c.264C>G (p.Ile88Met)
c.*765C>G (n.*765C>G)
n.3426C>G
c.744C>G (p.Ile248Met)
c.*235C>G (n.*235C>G)
c.717C>G (p.Ile239Met)
11g.128810472C>TCA477702262FLI1c.864C>T (p.Ile288=)
c.843C>T (p.Ile281=)
c.645C>T (p.Ile215=)
c.264C>T (p.Ile88=)
c.*765C>T (n.*765C>T)
n.3426C>T
c.744C>T (p.Ile248=)
c.*235C>T (n.*235C>T)
c.717C>T (p.Ile239=)
11g.128810473C>ACA383238448FLI1c.865C>A (p.Gln289Lys)
c.844C>A (p.Gln282Lys)
c.646C>A (p.Gln216Lys)
c.265C>A (p.Gln89Lys)
c.*766C>A (n.*766C>A)
n.3427C>A
c.745C>A (p.Gln249Lys)
c.*236C>A (n.*236C>A)
c.718C>A (p.Gln240Lys)
11g.128810473C>GCA383238446FLI1c.865C>G (p.Gln289Glu)
c.844C>G (p.Gln282Glu)
c.646C>G (p.Gln216Glu)
c.265C>G (p.Gln89Glu)
c.*766C>G (n.*766C>G)
n.3427C>G
c.745C>G (p.Gln249Glu)
c.*236C>G (n.*236C>G)
c.718C>G (p.Gln240Glu)
11g.128810473C>TCA383238447FLI1c.865C>T (p.Gln289Ter)
c.844C>T (p.Gln282Ter)
c.646C>T (p.Gln216Ter)
c.265C>T (p.Gln89Ter)
c.*766C>T (n.*766C>T)
n.3427C>T
c.745C>T (p.Gln249Ter)
c.*236C>T (n.*236C>T)
c.718C>T (p.Gln240Ter)
ClinVar
11g.128810474A>CCA383238449FLI1c.866A>C (p.Gln289Pro)
c.845A>C (p.Gln282Pro)
c.647A>C (p.Gln216Pro)
c.266A>C (p.Gln89Pro)
c.*767A>C (n.*767A>C)
n.3428A>C
c.746A>C (p.Gln249Pro)
c.*237A>C (n.*237A>C)
c.719A>C (p.Gln240Pro)
11g.128810474A>GCA383238450FLI1c.866A>G (p.Gln289Arg)
c.845A>G (p.Gln282Arg)
c.647A>G (p.Gln216Arg)
c.266A>G (p.Gln89Arg)
c.*767A>G (n.*767A>G)
n.3428A>G
c.746A>G (p.Gln249Arg)
c.*237A>G (n.*237A>G)
c.719A>G (p.Gln240Arg)
gnomAD v4
11g.128810474A>TCA383238451FLI1c.866A>T (p.Gln289Leu)
c.845A>T (p.Gln282Leu)
c.647A>T (p.Gln216Leu)
c.266A>T (p.Gln89Leu)
c.*767A>T (n.*767A>T)
n.3428A>T
c.746A>T (p.Gln249Leu)
c.*237A>T (n.*237A>T)
c.719A>T (p.Gln240Leu)
11g.128810475G>ACA477702314FLI1c.867G>A (p.Gln289=)
c.846G>A (p.Gln282=)
c.648G>A (p.Gln216=)
c.267G>A (p.Gln89=)
c.*768G>A (n.*768G>A)
n.3429G>A
c.747G>A (p.Gln249=)
c.*238G>A (n.*238G>A)
c.720G>A (p.Gln240=)
11g.128810475G>CCA383238452FLI1c.867G>C (p.Gln289His)
c.846G>C (p.Gln282His)
c.648G>C (p.Gln216His)
c.267G>C (p.Gln89His)
c.*768G>C (n.*768G>C)
n.3429G>C
c.747G>C (p.Gln249His)
c.*238G>C (n.*238G>C)
c.720G>C (p.Gln240His)
11g.128810475G>TCA383238453FLI1c.867G>T (p.Gln289His)
c.846G>T (p.Gln282His)
c.648G>T (p.Gln216His)
c.267G>T (p.Gln89His)
c.*768G>T (n.*768G>T)
n.3429G>T
c.747G>T (p.Gln249His)
c.*238G>T (n.*238G>T)
c.720G>T (p.Gln240His)
11g.128810476C>ACA383238455FLI1c.868C>A (p.Leu290Met)
c.847C>A (p.Leu283Met)
c.649C>A (p.Leu217Met)
c.268C>A (p.Leu90Met)
c.*769C>A (n.*769C>A)
n.3430C>A
c.748C>A (p.Leu250Met)
c.*239C>A (n.*239C>A)
c.721C>A (p.Leu241Met)
gnomAD v4
11g.128810476C>GCA383238454FLI1c.868C>G (p.Leu290Val)
c.847C>G (p.Leu283Val)
c.649C>G (p.Leu217Val)
c.268C>G (p.Leu90Val)
c.*769C>G (n.*769C>G)
n.3430C>G
c.748C>G (p.Leu250Val)
c.*239C>G (n.*239C>G)
c.721C>G (p.Leu241Val)
11g.128810476C>TCA477702316FLI1c.868C>T (p.Leu290=)
c.847C>T (p.Leu283=)
c.649C>T (p.Leu217=)
c.268C>T (p.Leu90=)
c.*769C>T (n.*769C>T)
n.3430C>T
c.748C>T (p.Leu250=)
c.*239C>T (n.*239C>T)
c.721C>T (p.Leu241=)
11g.128810477T>ACA383238456FLI1c.869T>A (p.Leu290Gln)
c.848T>A (p.Leu283Gln)
c.650T>A (p.Leu217Gln)
c.269T>A (p.Leu90Gln)
c.*770T>A (n.*770T>A)
n.3431T>A
c.749T>A (p.Leu250Gln)
c.*240T>A (n.*240T>A)
c.722T>A (p.Leu241Gln)
11g.128810477T>CCA383238457FLI1c.869T>C (p.Leu290Pro)
c.848T>C (p.Leu283Pro)
c.650T>C (p.Leu217Pro)
c.269T>C (p.Leu90Pro)
c.*770T>C (n.*770T>C)
n.3431T>C
c.749T>C (p.Leu250Pro)
c.*240T>C (n.*240T>C)
c.722T>C (p.Leu241Pro)
11g.128810477T>GCA383238458FLI1c.869T>G (p.Leu290Arg)
c.848T>G (p.Leu283Arg)
c.650T>G (p.Leu217Arg)
c.269T>G (p.Leu90Arg)
c.*770T>G (n.*770T>G)
n.3431T>G
c.749T>G (p.Leu250Arg)
c.*240T>G (n.*240T>G)
c.722T>G (p.Leu241Arg)
11g.128810478G>ACA477702318FLI1c.870G>A (p.Leu290=)
c.849G>A (p.Leu283=)
c.651G>A (p.Leu217=)
c.270G>A (p.Leu90=)
c.*771G>A (n.*771G>A)
n.3432G>A
c.750G>A (p.Leu250=)
c.*241G>A (n.*241G>A)
c.723G>A (p.Leu241=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.128810478G>CCA477702319FLI1c.870G>C (p.Leu290=)
c.849G>C (p.Leu283=)
c.651G>C (p.Leu217=)
c.270G>C (p.Leu90=)
c.*771G>C (n.*771G>C)
n.3432G>C
c.750G>C (p.Leu250=)
c.*241G>C (n.*241G>C)
c.723G>C (p.Leu241=)
11g.128810478G=CA2008248151FLI1c.870G= (p.Leu290=)
c.849G= (p.Leu283=)
c.651G= (p.Leu217=)
c.270G= (p.Leu90=)
c.*771G= (n.*771G=)
n.3432G=
c.750G= (p.Leu250=)
c.*241G= (n.*241G=)
c.723G= (p.Leu241=)
11g.128810478G>TCA477702320FLI1c.870G>T (p.Leu290=)
c.849G>T (p.Leu283=)
c.651G>T (p.Leu217=)
c.270G>T (p.Leu90=)
c.*771G>T (n.*771G>T)
n.3432G>T
c.750G>T (p.Leu250=)
c.*241G>T (n.*241G>T)
c.723G>T (p.Leu241=)
gnomAD v4
11g.128810479T>ACA383238459FLI1c.871T>A (p.Trp291Arg)
c.850T>A (p.Trp284Arg)
c.652T>A (p.Trp218Arg)
c.271T>A (p.Trp91Arg)
c.*772T>A (n.*772T>A)
n.3433T>A
c.751T>A (p.Trp251Arg)
c.*242T>A (n.*242T>A)
c.724T>A (p.Trp242Arg)
11g.128810479T>CCA383238460FLI1c.871T>C (p.Trp291Arg)
c.850T>C (p.Trp284Arg)
c.652T>C (p.Trp218Arg)
c.271T>C (p.Trp91Arg)
c.*772T>C (n.*772T>C)
n.3433T>C
c.751T>C (p.Trp251Arg)
c.*242T>C (n.*242T>C)
c.724T>C (p.Trp242Arg)
11g.128810479T>GCA383238461FLI1c.871T>G (p.Trp291Gly)
c.850T>G (p.Trp284Gly)
c.652T>G (p.Trp218Gly)
c.271T>G (p.Trp91Gly)
c.*772T>G (n.*772T>G)
n.3433T>G
c.751T>G (p.Trp251Gly)
c.*242T>G (n.*242T>G)
c.724T>G (p.Trp242Gly)
11g.128810480G>ACA383238462FLI1c.872G>A (p.Trp291Ter)
c.851G>A (p.Trp284Ter)
c.653G>A (p.Trp218Ter)
c.272G>A (p.Trp91Ter)
c.*773G>A (n.*773G>A)
n.3434G>A
c.752G>A (p.Trp251Ter)
c.*243G>A (n.*243G>A)
c.725G>A (p.Trp242Ter)
11g.128810480G>CCA383238464FLI1c.872G>C (p.Trp291Ser)
c.851G>C (p.Trp284Ser)
c.653G>C (p.Trp218Ser)
c.272G>C (p.Trp91Ser)
c.*773G>C (n.*773G>C)
n.3434G>C
c.752G>C (p.Trp251Ser)
c.*243G>C (n.*243G>C)
c.725G>C (p.Trp242Ser)
11g.128810480G>TCA383238463FLI1c.872G>T (p.Trp291Leu)
c.851G>T (p.Trp284Leu)
c.653G>T (p.Trp218Leu)
c.272G>T (p.Trp91Leu)
c.*773G>T (n.*773G>T)
n.3434G>T
c.752G>T (p.Trp251Leu)
c.*243G>T (n.*243G>T)
c.725G>T (p.Trp242Leu)
gnomAD v4
11g.128810481G>ACA383238465FLI1c.873G>A (p.Trp291Ter)
c.852G>A (p.Trp284Ter)
c.654G>A (p.Trp218Ter)
c.273G>A (p.Trp91Ter)
c.*774G>A (n.*774G>A)
n.3435G>A
c.753G>A (p.Trp251Ter)
c.*244G>A (n.*244G>A)
c.726G>A (p.Trp242Ter)
11g.128810481G>CCA383238466FLI1c.873G>C (p.Trp291Cys)
c.852G>C (p.Trp284Cys)
c.654G>C (p.Trp218Cys)
c.273G>C (p.Trp91Cys)
c.*774G>C (n.*774G>C)
n.3435G>C
c.753G>C (p.Trp251Cys)
c.*244G>C (n.*244G>C)
c.726G>C (p.Trp242Cys)
11g.128810481G=CA2008248156FLI1c.873G= (p.Trp291=)
c.852G= (p.Trp284=)
c.654G= (p.Trp218=)
c.273G= (p.Trp91=)
c.*774G= (n.*774G=)
n.3435G=
c.753G= (p.Trp251=)
c.*244G= (n.*244G=)
c.726G= (p.Trp242=)
11g.128810481G>TCA383238467FLI1c.873G>T (p.Trp291Cys)
c.852G>T (p.Trp284Cys)
c.654G>T (p.Trp218Cys)
c.273G>T (p.Trp91Cys)
c.*774G>T (n.*774G>T)
n.3435G>T
c.753G>T (p.Trp251Cys)
c.*244G>T (n.*244G>T)
c.726G>T (p.Trp242Cys)
ClinVar dbSNP
11g.128810482C>ACA383238468FLI1c.874C>A (p.Gln292Lys)
c.853C>A (p.Gln285Lys)
c.655C>A (p.Gln219Lys)
c.274C>A (p.Gln92Lys)
c.*775C>A (n.*775C>A)
n.3436C>A
c.754C>A (p.Gln252Lys)
c.*245C>A (n.*245C>A)
c.727C>A (p.Gln243Lys)
gnomAD v4
11g.128810482C>GCA383238469FLI1c.874C>G (p.Gln292Glu)
c.853C>G (p.Gln285Glu)
c.655C>G (p.Gln219Glu)
c.274C>G (p.Gln92Glu)
c.*775C>G (n.*775C>G)
n.3436C>G
c.754C>G (p.Gln252Glu)
c.*245C>G (n.*245C>G)
c.727C>G (p.Gln243Glu)
11g.128810482C>TCA383238470FLI1c.874C>T (p.Gln292Ter)
c.853C>T (p.Gln285Ter)
c.655C>T (p.Gln219Ter)
c.274C>T (p.Gln92Ter)
c.*775C>T (n.*775C>T)
n.3436C>T
c.754C>T (p.Gln252Ter)
c.*245C>T (n.*245C>T)
c.727C>T (p.Gln243Ter)
11g.128810483A>CCA383238471FLI1c.875A>C (p.Gln292Pro)
c.854A>C (p.Gln285Pro)
c.656A>C (p.Gln219Pro)
c.275A>C (p.Gln92Pro)
c.*776A>C (n.*776A>C)
n.3437A>C
c.755A>C (p.Gln252Pro)
c.*246A>C (n.*246A>C)
c.728A>C (p.Gln243Pro)
11g.128810483A>GCA383238472FLI1c.875A>G (p.Gln292Arg)
c.854A>G (p.Gln285Arg)
c.656A>G (p.Gln219Arg)
c.275A>G (p.Gln92Arg)
c.*776A>G (n.*776A>G)
n.3437A>G
c.755A>G (p.Gln252Arg)
c.*246A>G (n.*246A>G)
c.728A>G (p.Gln243Arg)
11g.128810483A>TCA383238473FLI1c.875A>T (p.Gln292Leu)
c.854A>T (p.Gln285Leu)
c.656A>T (p.Gln219Leu)
c.275A>T (p.Gln92Leu)
c.*776A>T (n.*776A>T)
n.3437A>T
c.755A>T (p.Gln252Leu)
c.*246A>T (n.*246A>T)
c.728A>T (p.Gln243Leu)
11g.128810484A=CA2008248163FLI1c.876A= (p.Gln292=)
c.855A= (p.Gln285=)
c.657A= (p.Gln219=)
c.276A= (p.Gln92=)
c.*777A= (n.*777A=)
n.3438A=
c.756A= (p.Gln252=)
c.*247A= (n.*247A=)
c.729A= (p.Gln243=)
11g.128810484A>CCA383238474FLI1c.876A>C (p.Gln292His)
c.855A>C (p.Gln285His)
c.657A>C (p.Gln219His)
c.276A>C (p.Gln92His)
c.*777A>C (n.*777A>C)
n.3438A>C
c.756A>C (p.Gln252His)
c.*247A>C (n.*247A>C)
c.729A>C (p.Gln243His)
11g.128810484A>GCA477702322FLI1c.876A>G (p.Gln292=)
c.855A>G (p.Gln285=)
c.657A>G (p.Gln219=)
c.276A>G (p.Gln92=)
c.*777A>G (n.*777A>G)
n.3438A>G
c.756A>G (p.Gln252=)
c.*247A>G (n.*247A>G)
c.729A>G (p.Gln243=)
dbSNP
11g.128810484A>TCA383238475FLI1c.876A>T (p.Gln292His)
c.855A>T (p.Gln285His)
c.657A>T (p.Gln219His)
c.276A>T (p.Gln92His)
c.*777A>T (n.*777A>T)
n.3438A>T
c.756A>T (p.Gln252His)
c.*247A>T (n.*247A>T)
c.729A>T (p.Gln243His)
11g.128810485T>ACA383238476FLI1c.877T>A (p.Phe293Ile)
c.856T>A (p.Phe286Ile)
c.658T>A (p.Phe220Ile)
c.277T>A (p.Phe93Ile)
c.*778T>A (n.*778T>A)
n.3439T>A
c.757T>A (p.Phe253Ile)
c.*248T>A (n.*248T>A)
c.730T>A (p.Phe244Ile)
11g.128810485T>CCA383238478FLI1c.877T>C (p.Phe293Leu)
c.856T>C (p.Phe286Leu)
c.658T>C (p.Phe220Leu)
c.277T>C (p.Phe93Leu)
c.*778T>C (n.*778T>C)
n.3439T>C
c.757T>C (p.Phe253Leu)
c.*248T>C (n.*248T>C)
c.730T>C (p.Phe244Leu)
11g.128810485T>GCA383238477FLI1c.877T>G (p.Phe293Val)
c.856T>G (p.Phe286Val)
c.658T>G (p.Phe220Val)
c.277T>G (p.Phe93Val)
c.*778T>G (n.*778T>G)
n.3439T>G
c.757T>G (p.Phe253Val)
c.*248T>G (n.*248T>G)
c.730T>G (p.Phe244Val)
11g.128810486T>ACA383238479FLI1c.878T>A (p.Phe293Tyr)
c.857T>A (p.Phe286Tyr)
c.659T>A (p.Phe220Tyr)
c.278T>A (p.Phe93Tyr)
c.*779T>A (n.*779T>A)
n.3440T>A
c.758T>A (p.Phe253Tyr)
c.*249T>A (n.*249T>A)
c.731T>A (p.Phe244Tyr)
11g.128810486T>CCA383238481FLI1c.878T>C (p.Phe293Ser)
c.857T>C (p.Phe286Ser)
c.659T>C (p.Phe220Ser)
c.278T>C (p.Phe93Ser)
c.*779T>C (n.*779T>C)
n.3440T>C
c.758T>C (p.Phe253Ser)
c.*249T>C (n.*249T>C)
c.731T>C (p.Phe244Ser)
11g.128810486T>GCA383238480FLI1c.878T>G (p.Phe293Cys)
c.857T>G (p.Phe286Cys)
c.659T>G (p.Phe220Cys)
c.278T>G (p.Phe93Cys)
c.*779T>G (n.*779T>G)
n.3440T>G
c.758T>G (p.Phe253Cys)
c.*249T>G (n.*249T>G)
c.731T>G (p.Phe244Cys)
11g.128810487C>ACA383238482FLI1c.879C>A (p.Phe293Leu)
c.858C>A (p.Phe286Leu)
c.660C>A (p.Phe220Leu)
c.279C>A (p.Phe93Leu)
c.*780C>A (n.*780C>A)
n.3441C>A
c.759C>A (p.Phe253Leu)
c.*250C>A (n.*250C>A)
c.732C>A (p.Phe244Leu)
11g.128810487C=CA2008248166FLI1c.879C= (p.Phe293=)
c.858C= (p.Phe286=)
c.660C= (p.Phe220=)
c.279C= (p.Phe93=)
c.*780C= (n.*780C=)
n.3441C=
c.759C= (p.Phe253=)
c.*250C= (n.*250C=)
c.732C= (p.Phe244=)
11g.128810487C>GCA383238483FLI1c.879C>G (p.Phe293Leu)
c.858C>G (p.Phe286Leu)
c.660C>G (p.Phe220Leu)
c.279C>G (p.Phe93Leu)
c.*780C>G (n.*780C>G)
n.3441C>G
c.759C>G (p.Phe253Leu)
c.*250C>G (n.*250C>G)
c.732C>G (p.Phe244Leu)
11g.128810487C>TCA477702326FLI1c.879C>T (p.Phe293=)
c.858C>T (p.Phe286=)
c.660C>T (p.Phe220=)
c.279C>T (p.Phe93=)
c.*780C>T (n.*780C>T)
n.3441C>T
c.759C>T (p.Phe253=)
c.*250C>T (n.*250C>T)
c.732C>T (p.Phe244=)
dbSNP gnomAD v2 COSMIC COSMIC
11g.128810488C>ACA383238484FLI1c.880C>A (p.Leu294Ile)
c.859C>A (p.Leu287Ile)
c.661C>A (p.Leu221Ile)
c.280C>A (p.Leu94Ile)
c.*781C>A (n.*781C>A)
n.3442C>A
c.760C>A (p.Leu254Ile)
c.*251C>A (n.*251C>A)
c.733C>A (p.Leu245Ile)
11g.128810488C>GCA383238485FLI1c.880C>G (p.Leu294Val)
c.859C>G (p.Leu287Val)
c.661C>G (p.Leu221Val)
c.280C>G (p.Leu94Val)
c.*781C>G (n.*781C>G)
n.3442C>G
c.760C>G (p.Leu254Val)
c.*251C>G (n.*251C>G)
c.733C>G (p.Leu245Val)
11g.128810488C>TCA383238486FLI1c.880C>T (p.Leu294Phe)
c.859C>T (p.Leu287Phe)
c.661C>T (p.Leu221Phe)
c.280C>T (p.Leu94Phe)
c.*781C>T (n.*781C>T)
n.3442C>T
c.760C>T (p.Leu254Phe)
c.*251C>T (n.*251C>T)
c.733C>T (p.Leu245Phe)
11g.128810489T>ACA383238487FLI1c.881T>A (p.Leu294His)
c.860T>A (p.Leu287His)
c.662T>A (p.Leu221His)
c.281T>A (p.Leu94His)
c.*782T>A (n.*782T>A)
n.3443T>A
c.761T>A (p.Leu254His)
c.*252T>A (n.*252T>A)
c.734T>A (p.Leu245His)
11g.128810489T>CCA383238488FLI1c.881T>C (p.Leu294Pro)
c.860T>C (p.Leu287Pro)
c.662T>C (p.Leu221Pro)
c.281T>C (p.Leu94Pro)
c.*782T>C (n.*782T>C)
n.3443T>C
c.761T>C (p.Leu254Pro)
c.*252T>C (n.*252T>C)
c.734T>C (p.Leu245Pro)
11g.128810489T>GCA383238489FLI1c.881T>G (p.Leu294Arg)
c.860T>G (p.Leu287Arg)
c.662T>G (p.Leu221Arg)
c.281T>G (p.Leu94Arg)
c.*782T>G (n.*782T>G)
n.3443T>G
c.761T>G (p.Leu254Arg)
c.*252T>G (n.*252T>G)
c.734T>G (p.Leu245Arg)
11g.128810490C>ACA477702327FLI1c.882C>A (p.Leu294=)
c.861C>A (p.Leu287=)
c.663C>A (p.Leu221=)
c.282C>A (p.Leu94=)
c.*783C>A (n.*783C>A)
n.3444C>A
c.762C>A (p.Leu254=)
c.*253C>A (n.*253C>A)
c.735C>A (p.Leu245=)
11g.128810490C>GCA477702328FLI1c.882C>G (p.Leu294=)
c.861C>G (p.Leu287=)
c.663C>G (p.Leu221=)
c.282C>G (p.Leu94=)
c.*783C>G (n.*783C>G)
n.3444C>G
c.762C>G (p.Leu254=)
c.*253C>G (n.*253C>G)
c.735C>G (p.Leu245=)
11g.128810490C>TCA477702329FLI1c.882C>T (p.Leu294=)
c.861C>T (p.Leu287=)
c.663C>T (p.Leu221=)
c.282C>T (p.Leu94=)
c.*783C>T (n.*783C>T)
n.3444C>T
c.762C>T (p.Leu254=)
c.*253C>T (n.*253C>T)
c.735C>T (p.Leu245=)
gnomAD v4
11g.128810491C>ACA383238490FLI1c.883C>A (p.Leu295Met)
c.862C>A (p.Leu288Met)
c.664C>A (p.Leu222Met)
c.283C>A (p.Leu95Met)
c.*784C>A (n.*784C>A)
n.3445C>A
c.763C>A (p.Leu255Met)
c.*254C>A (n.*254C>A)
c.736C>A (p.Leu246Met)
dbSNP gnomAD v3 gnomAD v4
11g.128810491C=CA2008248170FLI1c.883C= (p.Leu295=)
c.862C= (p.Leu288=)
c.664C= (p.Leu222=)
c.283C= (p.Leu95=)
c.*784C= (n.*784C=)
n.3445C=
c.763C= (p.Leu255=)
c.*254C= (n.*254C=)
c.736C= (p.Leu246=)
11g.128810491C>GCA383238491FLI1c.883C>G (p.Leu295Val)
c.862C>G (p.Leu288Val)
c.664C>G (p.Leu222Val)
c.283C>G (p.Leu95Val)
c.*784C>G (n.*784C>G)
n.3445C>G
c.763C>G (p.Leu255Val)
c.*254C>G (n.*254C>G)
c.736C>G (p.Leu246Val)
gnomAD v4
11g.128810491C>TCA477702330FLI1c.883C>T (p.Leu295=)
c.862C>T (p.Leu288=)
c.664C>T (p.Leu222=)
c.283C>T (p.Leu95=)
c.*784C>T (n.*784C>T)
n.3445C>T
c.763C>T (p.Leu255=)
c.*254C>T (n.*254C>T)
c.736C>T (p.Leu246=)
dbSNP gnomAD v2 gnomAD v4
11g.128810492T>ACA383238492FLI1c.884T>A (p.Leu295Gln)
c.863T>A (p.Leu288Gln)
c.665T>A (p.Leu222Gln)
c.284T>A (p.Leu95Gln)
c.*785T>A (n.*785T>A)
n.3446T>A
c.764T>A (p.Leu255Gln)
c.*255T>A (n.*255T>A)
c.737T>A (p.Leu246Gln)
11g.128810492T>CCA383238493FLI1c.884T>C (p.Leu295Pro)
c.863T>C (p.Leu288Pro)
c.665T>C (p.Leu222Pro)
c.284T>C (p.Leu95Pro)
c.*785T>C (n.*785T>C)
n.3446T>C
c.764T>C (p.Leu255Pro)
c.*255T>C (n.*255T>C)
c.737T>C (p.Leu246Pro)
11g.128810492T>GCA383238494FLI1c.884T>G (p.Leu295Arg)
c.863T>G (p.Leu288Arg)
c.665T>G (p.Leu222Arg)
c.284T>G (p.Leu95Arg)
c.*785T>G (n.*785T>G)
n.3446T>G
c.764T>G (p.Leu255Arg)
c.*255T>G (n.*255T>G)
c.737T>G (p.Leu246Arg)
11g.128810493G>ACA477702334FLI1c.885G>A (p.Leu295=)
c.864G>A (p.Leu288=)
c.666G>A (p.Leu222=)
c.285G>A (p.Leu95=)
c.*786G>A (n.*786G>A)
n.3447G>A
c.765G>A (p.Leu255=)
c.*256G>A (n.*256G>A)
c.738G>A (p.Leu246=)
dbSNP gnomAD v3 gnomAD v4
11g.128810493G>CCA477702335FLI1c.885G>C (p.Leu295=)
c.864G>C (p.Leu288=)
c.666G>C (p.Leu222=)
c.285G>C (p.Leu95=)
c.*786G>C (n.*786G>C)
n.3447G>C
c.765G>C (p.Leu255=)
c.*256G>C (n.*256G>C)
c.738G>C (p.Leu246=)
11g.128810493G=CA2008248175FLI1c.885G= (p.Leu295=)
c.864G= (p.Leu288=)
c.666G= (p.Leu222=)
c.285G= (p.Leu95=)
c.*786G= (n.*786G=)
n.3447G=
c.765G= (p.Leu255=)
c.*256G= (n.*256G=)
c.738G= (p.Leu246=)
11g.128810493G>TCA477702336FLI1c.885G>T (p.Leu295=)
c.864G>T (p.Leu288=)
c.666G>T (p.Leu222=)
c.285G>T (p.Leu95=)
c.*786G>T (n.*786G>T)
n.3447G>T
c.765G>T (p.Leu255=)
c.*256G>T (n.*256G>T)
c.738G>T (p.Leu246=)
gnomAD v4
11g.128810494G>ACA383238495FLI1c.886G>A (p.Glu296Lys)
c.865G>A (p.Glu289Lys)
c.667G>A (p.Glu223Lys)
c.286G>A (p.Glu96Lys)
c.*787G>A (n.*787G>A)
n.3448G>A
c.766G>A (p.Glu256Lys)
c.*257G>A (n.*257G>A)
c.739G>A (p.Glu247Lys)
11g.128810494G>CCA383238497FLI1c.886G>C (p.Glu296Gln)
c.865G>C (p.Glu289Gln)
c.667G>C (p.Glu223Gln)
c.286G>C (p.Glu96Gln)
c.*787G>C (n.*787G>C)
n.3448G>C
c.766G>C (p.Glu256Gln)
c.*257G>C (n.*257G>C)
c.739G>C (p.Glu247Gln)
11g.128810494G>TCA383238496FLI1c.886G>T (p.Glu296Ter)
c.865G>T (p.Glu289Ter)
c.667G>T (p.Glu223Ter)
c.286G>T (p.Glu96Ter)
c.*787G>T (n.*787G>T)
n.3448G>T
c.766G>T (p.Glu256Ter)
c.*257G>T (n.*257G>T)
c.739G>T (p.Glu247Ter)
11g.128810495A>CCA383238498FLI1c.887A>C (p.Glu296Ala)
c.866A>C (p.Glu289Ala)
c.668A>C (p.Glu223Ala)
c.287A>C (p.Glu96Ala)
c.*788A>C (n.*788A>C)
n.3449A>C
c.767A>C (p.Glu256Ala)
c.*258A>C (n.*258A>C)
c.740A>C (p.Glu247Ala)
11g.128810495A>GCA383238499FLI1c.887A>G (p.Glu296Gly)
c.866A>G (p.Glu289Gly)
c.668A>G (p.Glu223Gly)
c.287A>G (p.Glu96Gly)
c.*788A>G (n.*788A>G)
n.3449A>G
c.767A>G (p.Glu256Gly)
c.*258A>G (n.*258A>G)
c.740A>G (p.Glu247Gly)
gnomAD v4
11g.128810495A>TCA383238500FLI1c.887A>T (p.Glu296Val)
c.866A>T (p.Glu289Val)
c.668A>T (p.Glu223Val)
c.287A>T (p.Glu96Val)
c.*788A>T (n.*788A>T)
n.3449A>T
c.767A>T (p.Glu256Val)
c.*258A>T (n.*258A>T)
c.740A>T (p.Glu247Val)
11g.128810496G>ACA230604795FLI1c.888G>A (p.Glu296=)
c.867G>A (p.Glu289=)
c.669G>A (p.Glu223=)
c.288G>A (p.Glu96=)
c.*789G>A (n.*789G>A)
n.3450G>A
c.768G>A (p.Glu256=)
c.*259G>A (n.*259G>A)
c.741G>A (p.Glu247=)
dbSNP gnomAD v4
11g.128810496G>CCA383238501FLI1c.888G>C (p.Glu296Asp)
c.867G>C (p.Glu289Asp)
c.669G>C (p.Glu223Asp)
c.288G>C (p.Glu96Asp)
c.*789G>C (n.*789G>C)
n.3450G>C
c.768G>C (p.Glu256Asp)
c.*259G>C (n.*259G>C)
c.741G>C (p.Glu247Asp)
11g.128810496G=CA2008248178FLI1c.888G= (p.Glu296=)
c.867G= (p.Glu289=)
c.669G= (p.Glu223=)
c.288G= (p.Glu96=)
c.*789G= (n.*789G=)
n.3450G=
c.768G= (p.Glu256=)
c.*259G= (n.*259G=)
c.741G= (p.Glu247=)
11g.128810496G>TCA383238502FLI1c.888G>T (p.Glu296Asp)
c.867G>T (p.Glu289Asp)
c.669G>T (p.Glu223Asp)
c.288G>T (p.Glu96Asp)
c.*789G>T (n.*789G>T)
n.3450G>T
c.768G>T (p.Glu256Asp)
c.*259G>T (n.*259G>T)
c.741G>T (p.Glu247Asp)
gnomAD v4
11g.128810497C>ACA383238503FLI1c.889C>A (p.Leu297Met)
c.868C>A (p.Leu290Met)
c.670C>A (p.Leu224Met)
c.289C>A (p.Leu97Met)
c.*790C>A (n.*790C>A)
n.3451C>A
c.769C>A (p.Leu257Met)
c.*260C>A (n.*260C>A)
c.742C>A (p.Leu248Met)
gnomAD v4
11g.128810497C=CA2008248182FLI1c.889C= (p.Leu297=)
c.868C= (p.Leu290=)
c.670C= (p.Leu224=)
c.289C= (p.Leu97=)
c.*790C= (n.*790C=)
n.3451C=
c.769C= (p.Leu257=)
c.*260C= (n.*260C=)
c.742C= (p.Leu248=)
11g.128810497C>GCA383238504FLI1c.889C>G (p.Leu297Val)
c.868C>G (p.Leu290Val)
c.670C>G (p.Leu224Val)
c.289C>G (p.Leu97Val)
c.*790C>G (n.*790C>G)
n.3451C>G
c.769C>G (p.Leu257Val)
c.*260C>G (n.*260C>G)
c.742C>G (p.Leu248Val)
11g.128810497C>TCA477702341FLI1c.889C>T (p.Leu297=)
c.868C>T (p.Leu290=)
c.670C>T (p.Leu224=)
c.289C>T (p.Leu97=)
c.*790C>T (n.*790C>T)
n.3451C>T
c.769C>T (p.Leu257=)
c.*260C>T (n.*260C>T)
c.742C>T (p.Leu248=)
dbSNP gnomAD v2 gnomAD v4
11g.128810498T>ACA383238505FLI1c.890T>A (p.Leu297Gln)
c.869T>A (p.Leu290Gln)
c.671T>A (p.Leu224Gln)
c.290T>A (p.Leu97Gln)
c.*791T>A (n.*791T>A)
n.3452T>A
c.770T>A (p.Leu257Gln)
c.*261T>A (n.*261T>A)
c.743T>A (p.Leu248Gln)
11g.128810498T>CCA383238506FLI1c.890T>C (p.Leu297Pro)
c.869T>C (p.Leu290Pro)
c.671T>C (p.Leu224Pro)
c.290T>C (p.Leu97Pro)
c.*791T>C (n.*791T>C)
n.3452T>C
c.770T>C (p.Leu257Pro)
c.*261T>C (n.*261T>C)
c.743T>C (p.Leu248Pro)
gnomAD v4
11g.128810498T>GCA383238507FLI1c.890T>G (p.Leu297Arg)
c.869T>G (p.Leu290Arg)
c.671T>G (p.Leu224Arg)
c.290T>G (p.Leu97Arg)
c.*791T>G (n.*791T>G)
n.3452T>G
c.770T>G (p.Leu257Arg)
c.*261T>G (n.*261T>G)
c.743T>G (p.Leu248Arg)
11g.128810499G>ACA477702346FLI1c.891G>A (p.Leu297=)
c.870G>A (p.Leu290=)
c.672G>A (p.Leu224=)
c.291G>A (p.Leu97=)
c.*792G>A (n.*792G>A)
n.3453G>A
c.771G>A (p.Leu257=)
c.*262G>A (n.*262G>A)
c.744G>A (p.Leu248=)
gnomAD v4
11g.128810499G>CCA6357281FLI1c.891G>C (p.Leu297=)
c.870G>C (p.Leu290=)
c.672G>C (p.Leu224=)
c.291G>C (p.Leu97=)
c.*792G>C (n.*792G>C)
n.3453G>C
c.771G>C (p.Leu257=)
c.*262G>C (n.*262G>C)
c.744G>C (p.Leu248=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.128810499G=CA2008248186FLI1c.891G= (p.Leu297=)
c.870G= (p.Leu290=)
c.672G= (p.Leu224=)
c.291G= (p.Leu97=)
c.*792G= (n.*792G=)
n.3453G=
c.771G= (p.Leu257=)
c.*262G= (n.*262G=)
c.744G= (p.Leu248=)
11g.128810499G>TCA477702347FLI1c.891G>T (p.Leu297=)
c.870G>T (p.Leu290=)
c.672G>T (p.Leu224=)
c.291G>T (p.Leu97=)
c.*792G>T (n.*792G>T)
n.3453G>T
c.771G>T (p.Leu257=)
c.*262G>T (n.*262G>T)
c.744G>T (p.Leu248=)
dbSNP gnomAD v2 gnomAD v4
11g.128810500C>ACA383238510FLI1c.892C>A (p.Leu298Ile)
c.871C>A (p.Leu291Ile)
c.673C>A (p.Leu225Ile)
c.292C>A (p.Leu98Ile)
c.*793C>A (n.*793C>A)
n.3454C>A
c.772C>A (p.Leu258Ile)
c.*263C>A (n.*263C>A)
c.745C>A (p.Leu249Ile)
gnomAD v4
11g.128810500C=CA2008248191FLI1c.892C= (p.Leu298=)
c.871C= (p.Leu291=)
c.673C= (p.Leu225=)
c.292C= (p.Leu98=)
c.*793C= (n.*793C=)
n.3454C=
c.772C= (p.Leu258=)
c.*263C= (n.*263C=)
c.745C= (p.Leu249=)
11g.128810500C>GCA383238508FLI1c.892C>G (p.Leu298Val)
c.871C>G (p.Leu291Val)
c.673C>G (p.Leu225Val)
c.292C>G (p.Leu98Val)
c.*793C>G (n.*793C>G)
n.3454C>G
c.772C>G (p.Leu258Val)
c.*263C>G (n.*263C>G)
c.745C>G (p.Leu249Val)
11g.128810500C>TCA383238509FLI1c.892C>T (p.Leu298Phe)
c.871C>T (p.Leu291Phe)
c.673C>T (p.Leu225Phe)
c.292C>T (p.Leu98Phe)
c.*793C>T (n.*793C>T)
n.3454C>T
c.772C>T (p.Leu258Phe)
c.*263C>T (n.*263C>T)
c.745C>T (p.Leu249Phe)
dbSNP gnomAD v2 gnomAD v4 COSMIC
11g.128810501T>ACA383238511FLI1c.893T>A (p.Leu298His)
c.872T>A (p.Leu291His)
c.674T>A (p.Leu225His)
c.293T>A (p.Leu98His)
c.*794T>A (n.*794T>A)
n.3455T>A
c.773T>A (p.Leu258His)
c.*264T>A (n.*264T>A)
c.746T>A (p.Leu249His)
11g.128810501T>CCA383238512FLI1c.893T>C (p.Leu298Pro)
c.872T>C (p.Leu291Pro)
c.674T>C (p.Leu225Pro)
c.293T>C (p.Leu98Pro)
c.*794T>C (n.*794T>C)
n.3455T>C
c.773T>C (p.Leu258Pro)
c.*264T>C (n.*264T>C)
c.746T>C (p.Leu249Pro)
11g.128810501T>GCA383238513FLI1c.893T>G (p.Leu298Arg)
c.872T>G (p.Leu291Arg)
c.674T>G (p.Leu225Arg)
c.293T>G (p.Leu98Arg)
c.*794T>G (n.*794T>G)
n.3455T>G
c.773T>G (p.Leu258Arg)
c.*264T>G (n.*264T>G)
c.746T>G (p.Leu249Arg)
11g.128810502C>ACA477702350FLI1c.894C>A (p.Leu298=)
c.873C>A (p.Leu291=)
c.675C>A (p.Leu225=)
c.294C>A (p.Leu98=)
c.*795C>A (n.*795C>A)
n.3456C>A
c.774C>A (p.Leu258=)
c.*265C>A (n.*265C>A)
c.747C>A (p.Leu249=)
gnomAD v4
11g.128810502C=CA2008248193FLI1c.894C= (p.Leu298=)
c.873C= (p.Leu291=)
c.675C= (p.Leu225=)
c.294C= (p.Leu98=)
c.*795C= (n.*795C=)
n.3456C=
c.774C= (p.Leu258=)
c.*265C= (n.*265C=)
c.747C= (p.Leu249=)
11g.128810502C>GCA477702352FLI1c.894C>G (p.Leu298=)
c.873C>G (p.Leu291=)
c.675C>G (p.Leu225=)
c.294C>G (p.Leu98=)
c.*795C>G (n.*795C>G)
n.3456C>G
c.774C>G (p.Leu258=)
c.*265C>G (n.*265C>G)
c.747C>G (p.Leu249=)
dbSNP gnomAD v4
11g.128810502C>TCA477702351FLI1c.894C>T (p.Leu298=)
c.873C>T (p.Leu291=)
c.675C>T (p.Leu225=)
c.294C>T (p.Leu98=)
c.*795C>T (n.*795C>T)
n.3456C>T
c.774C>T (p.Leu258=)
c.*265C>T (n.*265C>T)
c.747C>T (p.Leu249=)
gnomAD v4
11g.128810503T>ACA383238514FLI1c.895T>A (p.Ser299Thr)
c.874T>A (p.Ser292Thr)
c.676T>A (p.Ser226Thr)
c.295T>A (p.Ser99Thr)
c.*796T>A (n.*796T>A)
n.3457T>A
c.775T>A (p.Ser259Thr)
c.*266T>A (n.*266T>A)
c.748T>A (p.Ser250Thr)
11g.128810503T>CCA383238515FLI1c.895T>C (p.Ser299Pro)
c.874T>C (p.Ser292Pro)
c.676T>C (p.Ser226Pro)
c.295T>C (p.Ser99Pro)
c.*796T>C (n.*796T>C)
n.3457T>C
c.775T>C (p.Ser259Pro)
c.*266T>C (n.*266T>C)
c.748T>C (p.Ser250Pro)
11g.128810503T>GCA383238516FLI1c.895T>G (p.Ser299Ala)
c.874T>G (p.Ser292Ala)
c.676T>G (p.Ser226Ala)
c.295T>G (p.Ser99Ala)
c.*796T>G (n.*796T>G)
n.3457T>G
c.775T>G (p.Ser259Ala)
c.*266T>G (n.*266T>G)
c.748T>G (p.Ser250Ala)
11g.128810504C>ACA383238517FLI1c.896C>A (p.Ser299Tyr)
c.875C>A (p.Ser292Tyr)
c.677C>A (p.Ser226Tyr)
c.296C>A (p.Ser99Tyr)
c.*797C>A (n.*797C>A)
n.3458C>A
c.776C>A (p.Ser259Tyr)
c.*267C>A (n.*267C>A)
c.749C>A (p.Ser250Tyr)
11g.128810504C>GCA383238518FLI1c.896C>G (p.Ser299Cys)
c.875C>G (p.Ser292Cys)
c.677C>G (p.Ser226Cys)
c.296C>G (p.Ser99Cys)
c.*797C>G (n.*797C>G)
n.3458C>G
c.776C>G (p.Ser259Cys)
c.*267C>G (n.*267C>G)
c.749C>G (p.Ser250Cys)
11g.128810504C>TCA383238519FLI1c.896C>T (p.Ser299Phe)
c.875C>T (p.Ser292Phe)
c.677C>T (p.Ser226Phe)
c.296C>T (p.Ser99Phe)
c.*797C>T (n.*797C>T)
n.3458C>T
c.776C>T (p.Ser259Phe)
c.*267C>T (n.*267C>T)
c.749C>T (p.Ser250Phe)
COSMIC COSMIC
11g.128810505C>ACA477702357FLI1c.897C>A (p.Ser299=)
c.876C>A (p.Ser292=)
c.678C>A (p.Ser226=)
c.297C>A (p.Ser99=)
c.*798C>A (n.*798C>A)
n.3459C>A
c.777C>A (p.Ser259=)
c.*268C>A (n.*268C>A)
c.750C>A (p.Ser250=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.128810505C=CA2008248198FLI1c.897C= (p.Ser299=)
c.876C= (p.Ser292=)
c.678C= (p.Ser226=)
c.297C= (p.Ser99=)
c.*798C= (n.*798C=)
n.3459C=
c.777C= (p.Ser259=)
c.*268C= (n.*268C=)
c.750C= (p.Ser250=)
11g.128810505C>GCA477702358FLI1c.897C>G (p.Ser299=)
c.876C>G (p.Ser292=)
c.678C>G (p.Ser226=)
c.297C>G (p.Ser99=)
c.*798C>G (n.*798C>G)
n.3459C>G
c.777C>G (p.Ser259=)
c.*268C>G (n.*268C>G)
c.750C>G (p.Ser250=)
11g.128810505C>TCA6357282FLI1c.897C>T (p.Ser299=)
c.876C>T (p.Ser292=)
c.678C>T (p.Ser226=)
c.297C>T (p.Ser99=)
c.*798C>T (n.*798C>T)
n.3459C>T
c.777C>T (p.Ser259=)
c.*268C>T (n.*268C>T)
c.750C>T (p.Ser250=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.128810506G>ACA383238522FLI1c.898G>A (p.Asp300Asn)
c.877G>A (p.Asp293Asn)
c.679G>A (p.Asp227Asn)
c.298G>A (p.Asp100Asn)
c.*799G>A (n.*799G>A)
n.3460G>A
c.778G>A (p.Asp260Asn)
c.*269G>A (n.*269G>A)
c.751G>A (p.Asp251Asn)
dbSNP gnomAD v2 gnomAD v4 COSMIC
11g.128810506G>CCA383238521FLI1c.898G>C (p.Asp300His)
c.877G>C (p.Asp293His)
c.679G>C (p.Asp227His)
c.298G>C (p.Asp100His)
c.*799G>C (n.*799G>C)
n.3460G>C
c.778G>C (p.Asp260His)
c.*269G>C (n.*269G>C)
c.751G>C (p.Asp251His)
11g.128810506G=CA2008248202FLI1c.898G= (p.Asp300=)
c.877G= (p.Asp293=)
c.679G= (p.Asp227=)
c.298G= (p.Asp100=)
c.*799G= (n.*799G=)
n.3460G=
c.778G= (p.Asp260=)
c.*269G= (n.*269G=)
c.751G= (p.Asp251=)
11g.128810506G>TCA383238520FLI1c.898G>T (p.Asp300Tyr)
c.877G>T (p.Asp293Tyr)
c.679G>T (p.Asp227Tyr)
c.298G>T (p.Asp100Tyr)
c.*799G>T (n.*799G>T)
n.3460G>T
c.778G>T (p.Asp260Tyr)
c.*269G>T (n.*269G>T)
c.751G>T (p.Asp251Tyr)
gnomAD v4
11g.128810507A>CCA383238523FLI1c.899A>C (p.Asp300Ala)
c.878A>C (p.Asp293Ala)
c.680A>C (p.Asp227Ala)
c.299A>C (p.Asp100Ala)
c.*800A>C (n.*800A>C)
n.3461A>C
c.779A>C (p.Asp260Ala)
c.*270A>C (n.*270A>C)
c.752A>C (p.Asp251Ala)
11g.128810507A>GCA383238524FLI1c.899A>G (p.Asp300Gly)
c.878A>G (p.Asp293Gly)
c.680A>G (p.Asp227Gly)
c.299A>G (p.Asp100Gly)
c.*800A>G (n.*800A>G)
n.3461A>G
c.779A>G (p.Asp260Gly)
c.*270A>G (n.*270A>G)
c.752A>G (p.Asp251Gly)
11g.128810507A>TCA383238525FLI1c.899A>T (p.Asp300Val)
c.878A>T (p.Asp293Val)
c.680A>T (p.Asp227Val)
c.299A>T (p.Asp100Val)
c.*800A>T (n.*800A>T)
n.3461A>T
c.779A>T (p.Asp260Val)
c.*270A>T (n.*270A>T)
c.752A>T (p.Asp251Val)
11g.128810508C>ACA383238526FLI1c.900C>A (p.Asp300Glu)
c.879C>A (p.Asp293Glu)
c.681C>A (p.Asp227Glu)
c.300C>A (p.Asp100Glu)
c.*801C>A (n.*801C>A)
n.3462C>A
c.780C>A (p.Asp260Glu)
c.*271C>A (n.*271C>A)
c.753C>A (p.Asp251Glu)
11g.128810508C=CA2008248205FLI1c.900C= (p.Asp300=)
c.879C= (p.Asp293=)
c.681C= (p.Asp227=)
c.300C= (p.Asp100=)
c.*801C= (n.*801C=)
n.3462C=
c.780C= (p.Asp260=)
c.*271C= (n.*271C=)
c.753C= (p.Asp251=)
11g.128810508C>GCA383238527FLI1c.900C>G (p.Asp300Glu)
c.879C>G (p.Asp293Glu)
c.681C>G (p.Asp227Glu)
c.300C>G (p.Asp100Glu)
c.*801C>G (n.*801C>G)
n.3462C>G
c.780C>G (p.Asp260Glu)
c.*271C>G (n.*271C>G)
c.753C>G (p.Asp251Glu)
gnomAD v4
11g.128810508C>TCA477702361FLI1c.900C>T (p.Asp300=)
c.879C>T (p.Asp293=)
c.681C>T (p.Asp227=)
c.300C>T (p.Asp100=)
c.*801C>T (n.*801C>T)
n.3462C>T
c.780C>T (p.Asp260=)
c.*271C>T (n.*271C>T)
c.753C>T (p.Asp251=)
dbSNP
11g.128810509A=CA2008248208FLI1c.901A= (p.Ser301=)
c.880A= (p.Ser294=)
c.682A= (p.Ser228=)
c.301A= (p.Ser101=)
c.*802A= (n.*802A=)
n.3463A=
c.781A= (p.Ser261=)
c.*272A= (n.*272A=)
c.754A= (p.Ser252=)
11g.128810509A>CCA383238528FLI1c.901A>C (p.Ser301Arg)
c.880A>C (p.Ser294Arg)
c.682A>C (p.Ser228Arg)
c.301A>C (p.Ser101Arg)
c.*802A>C (n.*802A>C)
n.3463A>C
c.781A>C (p.Ser261Arg)
c.*272A>C (n.*272A>C)
c.754A>C (p.Ser252Arg)
11g.128810509A>GCA383238529FLI1c.901A>G (p.Ser301Gly)
c.880A>G (p.Ser294Gly)
c.682A>G (p.Ser228Gly)
c.301A>G (p.Ser101Gly)
c.*802A>G (n.*802A>G)
n.3463A>G
c.781A>G (p.Ser261Gly)
c.*272A>G (n.*272A>G)
c.754A>G (p.Ser252Gly)
dbSNP gnomAD v3 gnomAD v4
11g.128810509A>TCA383238530FLI1c.901A>T (p.Ser301Cys)
c.880A>T (p.Ser294Cys)
c.682A>T (p.Ser228Cys)
c.301A>T (p.Ser101Cys)
c.*802A>T (n.*802A>T)
n.3463A>T
c.781A>T (p.Ser261Cys)
c.*272A>T (n.*272A>T)
c.754A>T (p.Ser252Cys)
11g.128810510G>ACA383238531FLI1c.902G>A (p.Ser301Asn)
c.881G>A (p.Ser294Asn)
c.683G>A (p.Ser228Asn)
c.302G>A (p.Ser101Asn)
c.*803G>A (n.*803G>A)
n.3464G>A
c.782G>A (p.Ser261Asn)
c.*273G>A (n.*273G>A)
c.755G>A (p.Ser252Asn)
11g.128810510G>CCA383238532FLI1c.902G>C (p.Ser301Thr)
c.881G>C (p.Ser294Thr)
c.683G>C (p.Ser228Thr)
c.302G>C (p.Ser101Thr)
c.*803G>C (n.*803G>C)
n.3464G>C
c.782G>C (p.Ser261Thr)
c.*273G>C (n.*273G>C)
c.755G>C (p.Ser252Thr)
11g.128810510G>TCA383238533FLI1c.902G>T (p.Ser301Ile)
c.881G>T (p.Ser294Ile)
c.683G>T (p.Ser228Ile)
c.302G>T (p.Ser101Ile)
c.*803G>T (n.*803G>T)
n.3464G>T
c.782G>T (p.Ser261Ile)
c.*273G>T (n.*273G>T)
c.755G>T (p.Ser252Ile)
gnomAD v4
11g.128810511C>ACA383238534FLI1c.903C>A (p.Ser301Arg)
c.882C>A (p.Ser294Arg)
c.684C>A (p.Ser228Arg)
c.303C>A (p.Ser101Arg)
c.*804C>A (n.*804C>A)
n.3465C>A
c.783C>A (p.Ser261Arg)
c.*274C>A (n.*274C>A)
c.756C>A (p.Ser252Arg)
11g.128810511C=CA2008248210FLI1c.903C= (p.Ser301=)
c.882C= (p.Ser294=)
c.684C= (p.Ser228=)
c.303C= (p.Ser101=)
c.*804C= (n.*804C=)
n.3465C=
c.783C= (p.Ser261=)
c.*274C= (n.*274C=)
c.756C= (p.Ser252=)
11g.128810511C>GCA383238535FLI1c.903C>G (p.Ser301Arg)
c.882C>G (p.Ser294Arg)
c.684C>G (p.Ser228Arg)
c.303C>G (p.Ser101Arg)
c.*804C>G (n.*804C>G)
n.3465C>G
c.783C>G (p.Ser261Arg)
c.*274C>G (n.*274C>G)
c.756C>G (p.Ser252Arg)
11g.128810511C>TCA477702363FLI1c.903C>T (p.Ser301=)
c.882C>T (p.Ser294=)
c.684C>T (p.Ser228=)
c.303C>T (p.Ser101=)
c.*804C>T (n.*804C>T)
n.3465C>T
c.783C>T (p.Ser261=)
c.*274C>T (n.*274C>T)
c.756C>T (p.Ser252=)
dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
11g.128810512G>ACA6357283FLI1c.904G>A (p.Ala302Thr)
c.883G>A (p.Ala295Thr)
c.685G>A (p.Ala229Thr)
c.304G>A (p.Ala102Thr)
c.*805G>A (n.*805G>A)
n.3466G>A
c.784G>A (p.Ala262Thr)
c.*275G>A (n.*275G>A)
c.757G>A (p.Ala253Thr)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.128810512G>CCA383238536FLI1c.904G>C (p.Ala302Pro)
c.883G>C (p.Ala295Pro)
c.685G>C (p.Ala229Pro)
c.304G>C (p.Ala102Pro)
c.*805G>C (n.*805G>C)
n.3466G>C
c.784G>C (p.Ala262Pro)
c.*275G>C (n.*275G>C)
c.757G>C (p.Ala253Pro)
11g.128810512G=CA2008248218FLI1c.904G= (p.Ala302=)
c.883G= (p.Ala295=)
c.685G= (p.Ala229=)
c.304G= (p.Ala102=)
c.*805G= (n.*805G=)
n.3466G=
c.784G= (p.Ala262=)
c.*275G= (n.*275G=)
c.757G= (p.Ala253=)
11g.128810512G>TCA6357284FLI1c.904G>T (p.Ala302Ser)
c.883G>T (p.Ala295Ser)
c.685G>T (p.Ala229Ser)
c.304G>T (p.Ala102Ser)
c.*805G>T (n.*805G>T)
n.3466G>T
c.784G>T (p.Ala262Ser)
c.*275G>T (n.*275G>T)
c.757G>T (p.Ala253Ser)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.128810513C>ACA6357285FLI1c.905C>A (p.Ala302Asp)
c.884C>A (p.Ala295Asp)
c.686C>A (p.Ala229Asp)
c.305C>A (p.Ala102Asp)
c.*806C>A (n.*806C>A)
n.3467C>A
c.785C>A (p.Ala262Asp)
c.*276C>A (n.*276C>A)
c.758C>A (p.Ala253Asp)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.128810513C=CA2008248223FLI1c.905C= (p.Ala302=)
c.884C= (p.Ala295=)
c.686C= (p.Ala229=)
c.305C= (p.Ala102=)
c.*806C= (n.*806C=)
n.3467C=
c.785C= (p.Ala262=)
c.*276C= (n.*276C=)
c.758C= (p.Ala253=)
11g.128810513C>GCA383238538FLI1c.905C>G (p.Ala302Gly)
c.884C>G (p.Ala295Gly)
c.686C>G (p.Ala229Gly)
c.305C>G (p.Ala102Gly)
c.*806C>G (n.*806C>G)
n.3467C>G
c.785C>G (p.Ala262Gly)
c.*276C>G (n.*276C>G)
c.758C>G (p.Ala253Gly)
11g.128810513C>TCA383238537FLI1c.905C>T (p.Ala302Val)
c.884C>T (p.Ala295Val)
c.686C>T (p.Ala229Val)
c.305C>T (p.Ala102Val)
c.*806C>T (n.*806C>T)
n.3467C>T
c.785C>T (p.Ala262Val)
c.*276C>T (n.*276C>T)
c.758C>T (p.Ala253Val)
11g.128810514C>ACA477702368FLI1c.906C>A (p.Ala302=)
c.885C>A (p.Ala295=)
c.687C>A (p.Ala229=)
c.306C>A (p.Ala102=)
c.*807C>A (n.*807C>A)
n.3468C>A
c.786C>A (p.Ala262=)
c.*277C>A (n.*277C>A)
c.759C>A (p.Ala253=)
11g.128810514C>GCA477702369FLI1c.906C>G (p.Ala302=)
c.885C>G (p.Ala295=)
c.687C>G (p.Ala229=)
c.306C>G (p.Ala102=)
c.*807C>G (n.*807C>G)
n.3468C>G
c.786C>G (p.Ala262=)
c.*277C>G (n.*277C>G)
c.759C>G (p.Ala253=)
gnomAD v4
11g.128810514C>TCA477702370FLI1c.906C>T (p.Ala302=)
c.885C>T (p.Ala295=)
c.687C>T (p.Ala229=)
c.306C>T (p.Ala102=)
c.*807C>T (n.*807C>T)
n.3468C>T
c.786C>T (p.Ala262=)
c.*277C>T (n.*277C>T)
c.759C>T (p.Ala253=)
11g.128810515A>CCA383238539FLI1c.907A>C (p.Asn303His)
c.886A>C (p.Asn296His)
c.688A>C (p.Asn230His)
c.307A>C (p.Asn103His)
c.*808A>C (n.*808A>C)
n.3469A>C
c.787A>C (p.Asn263His)
c.*278A>C (n.*278A>C)
c.760A>C (p.Asn254His)
11g.128810515A>GCA383238540FLI1c.907A>G (p.Asn303Asp)
c.886A>G (p.Asn296Asp)
c.688A>G (p.Asn230Asp)
c.307A>G (p.Asn103Asp)
c.*808A>G (n.*808A>G)
n.3469A>G
c.787A>G (p.Asn263Asp)
c.*278A>G (n.*278A>G)
c.760A>G (p.Asn254Asp)
11g.128810515A>TCA383238541FLI1c.907A>T (p.Asn303Tyr)
c.886A>T (p.Asn296Tyr)
c.688A>T (p.Asn230Tyr)
c.307A>T (p.Asn103Tyr)
c.*808A>T (n.*808A>T)
n.3469A>T
c.787A>T (p.Asn263Tyr)
c.*278A>T (n.*278A>T)
c.760A>T (p.Asn254Tyr)
11g.128810516A>CCA383238542FLI1c.908A>C (p.Asn303Thr)
c.887A>C (p.Asn296Thr)
c.689A>C (p.Asn230Thr)
c.308A>C (p.Asn103Thr)
c.*809A>C (n.*809A>C)
n.3470A>C
c.788A>C (p.Asn263Thr)
c.*279A>C (n.*279A>C)
c.761A>C (p.Asn254Thr)
11g.128810516A>GCA383238543FLI1c.908A>G (p.Asn303Ser)
c.887A>G (p.Asn296Ser)
c.689A>G (p.Asn230Ser)
c.308A>G (p.Asn103Ser)
c.*809A>G (n.*809A>G)
n.3470A>G
c.788A>G (p.Asn263Ser)
c.*279A>G (n.*279A>G)
c.761A>G (p.Asn254Ser)
gnomAD v4
11g.128810516A>TCA383238544FLI1c.908A>T (p.Asn303Ile)
c.887A>T (p.Asn296Ile)
c.689A>T (p.Asn230Ile)
c.308A>T (p.Asn103Ile)
c.*809A>T (n.*809A>T)
n.3470A>T
c.788A>T (p.Asn263Ile)
c.*279A>T (n.*279A>T)
c.761A>T (p.Asn254Ile)
11g.128810517C>ACA383238545FLI1c.909C>A (p.Asn303Lys)
c.888C>A (p.Asn296Lys)
c.690C>A (p.Asn230Lys)
c.309C>A (p.Asn103Lys)
c.*810C>A (n.*810C>A)
n.3471C>A
c.789C>A (p.Asn263Lys)
c.*280C>A (n.*280C>A)
c.762C>A (p.Asn254Lys)
11g.128810517C=CA2008248227FLI1c.909C= (p.Asn303=)
c.888C= (p.Asn296=)
c.690C= (p.Asn230=)
c.309C= (p.Asn103=)
c.*810C= (n.*810C=)
n.3471C=
c.789C= (p.Asn263=)
c.*280C= (n.*280C=)
c.762C= (p.Asn254=)
11g.128810517C>GCA383238546FLI1c.909C>G (p.Asn303Lys)
c.888C>G (p.Asn296Lys)
c.690C>G (p.Asn230Lys)
c.309C>G (p.Asn103Lys)
c.*810C>G (n.*810C>G)
n.3471C>G
c.789C>G (p.Asn263Lys)
c.*280C>G (n.*280C>G)
c.762C>G (p.Asn254Lys)
11g.128810517C>TCA6357286FLI1c.909C>T (p.Asn303=)
c.888C>T (p.Asn296=)
c.690C>T (p.Asn230=)
c.309C>T (p.Asn103=)
c.*810C>T (n.*810C>T)
n.3471C>T
c.789C>T (p.Asn263=)
c.*280C>T (n.*280C>T)
c.762C>T (p.Asn254=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.128810518G>ACA383238547FLI1c.910G>A (p.Ala304Thr)
c.889G>A (p.Ala297Thr)
c.691G>A (p.Ala231Thr)
c.310G>A (p.Ala104Thr)
c.*811G>A (n.*811G>A)
n.3472G>A
c.790G>A (p.Ala264Thr)
c.*281G>A (n.*281G>A)
c.763G>A (p.Ala255Thr)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
11g.128810518G>CCA383238548FLI1c.910G>C (p.Ala304Pro)
c.889G>C (p.Ala297Pro)
c.691G>C (p.Ala231Pro)
c.310G>C (p.Ala104Pro)
c.*811G>C (n.*811G>C)
n.3472G>C
c.790G>C (p.Ala264Pro)
c.*281G>C (n.*281G>C)
c.763G>C (p.Ala255Pro)
11g.128810518G=CA2008248231FLI1c.910G= (p.Ala304=)
c.889G= (p.Ala297=)
c.691G= (p.Ala231=)
c.310G= (p.Ala104=)
c.*811G= (n.*811G=)
n.3472G=
c.790G= (p.Ala264=)
c.*281G= (n.*281G=)
c.763G= (p.Ala255=)
11g.128810518G>TCA383238549FLI1c.910G>T (p.Ala304Ser)
c.889G>T (p.Ala297Ser)
c.691G>T (p.Ala231Ser)
c.310G>T (p.Ala104Ser)
c.*811G>T (n.*811G>T)
n.3472G>T
c.790G>T (p.Ala264Ser)
c.*281G>T (n.*281G>T)
c.763G>T (p.Ala255Ser)
11g.128810519C>ACA383238552FLI1c.911C>A (p.Ala304Asp)
c.890C>A (p.Ala297Asp)
c.692C>A (p.Ala231Asp)
c.311C>A (p.Ala104Asp)
c.*812C>A (n.*812C>A)
n.3473C>A
c.791C>A (p.Ala264Asp)
c.*282C>A (n.*282C>A)
c.764C>A (p.Ala255Asp)
11g.128810519C>GCA383238550FLI1c.911C>G (p.Ala304Gly)
c.890C>G (p.Ala297Gly)
c.692C>G (p.Ala231Gly)
c.311C>G (p.Ala104Gly)
c.*812C>G (n.*812C>G)
n.3473C>G
c.791C>G (p.Ala264Gly)
c.*282C>G (n.*282C>G)
c.764C>G (p.Ala255Gly)
11g.128810519C>TCA383238551FLI1c.911C>T (p.Ala304Val)
c.890C>T (p.Ala297Val)
c.692C>T (p.Ala231Val)
c.311C>T (p.Ala104Val)
c.*812C>T (n.*812C>T)
n.3473C>T
c.791C>T (p.Ala264Val)
c.*282C>T (n.*282C>T)
c.764C>T (p.Ala255Val)
11g.128810520C>ACA477702382FLI1c.912C>A (p.Ala304=)
c.891C>A (p.Ala297=)
c.693C>A (p.Ala231=)
c.312C>A (p.Ala104=)
c.*813C>A (n.*813C>A)
n.3474C>A
c.792C>A (p.Ala264=)
c.*283C>A (n.*283C>A)
c.765C>A (p.Ala255=)
11g.128810520C>GCA477702383FLI1c.912C>G (p.Ala304=)
c.891C>G (p.Ala297=)
c.693C>G (p.Ala231=)
c.312C>G (p.Ala104=)
c.*813C>G (n.*813C>G)
n.3474C>G
c.792C>G (p.Ala264=)
c.*283C>G (n.*283C>G)
c.765C>G (p.Ala255=)
11g.128810520C>TCA477702384FLI1c.912C>T (p.Ala304=)
c.891C>T (p.Ala297=)
c.693C>T (p.Ala231=)
c.312C>T (p.Ala104=)
c.*813C>T (n.*813C>T)
n.3474C>T
c.792C>T (p.Ala264=)
c.*283C>T (n.*283C>T)
c.765C>T (p.Ala255=)
11g.128810521A=CA2008248234FLI1c.913A= (p.Ser305=)
c.892A= (p.Ser298=)
c.694A= (p.Ser232=)
c.313A= (p.Ser105=)
c.*814A= (n.*814A=)
n.3475A=
c.793A= (p.Ser265=)
c.*284A= (n.*284A=)
c.766A= (p.Ser256=)
11g.128810521A>CCA383238553FLI1c.913A>C (p.Ser305Arg)
c.892A>C (p.Ser298Arg)
c.694A>C (p.Ser232Arg)
c.313A>C (p.Ser105Arg)
c.*814A>C (n.*814A>C)
n.3475A>C
c.793A>C (p.Ser265Arg)
c.*284A>C (n.*284A>C)
c.766A>C (p.Ser256Arg)
11g.128810521A>GCA383238554FLI1c.913A>G (p.Ser305Gly)
c.892A>G (p.Ser298Gly)
c.694A>G (p.Ser232Gly)
c.313A>G (p.Ser105Gly)
c.*814A>G (n.*814A>G)
n.3475A>G
c.793A>G (p.Ser265Gly)
c.*284A>G (n.*284A>G)
c.766A>G (p.Ser256Gly)
dbSNP gnomAD v2 gnomAD v4
11g.128810521A>TCA383238555FLI1c.913A>T (p.Ser305Cys)
c.892A>T (p.Ser298Cys)
c.694A>T (p.Ser232Cys)
c.313A>T (p.Ser105Cys)
c.*814A>T (n.*814A>T)
n.3475A>T
c.793A>T (p.Ser265Cys)
c.*284A>T (n.*284A>T)
c.766A>T (p.Ser256Cys)
11g.128810522G>ACA383238556FLI1c.914G>A (p.Ser305Asn)
c.893G>A (p.Ser298Asn)
c.695G>A (p.Ser232Asn)
c.314G>A (p.Ser105Asn)
c.*815G>A (n.*815G>A)
n.3476G>A
c.794G>A (p.Ser265Asn)
c.*285G>A (n.*285G>A)
c.767G>A (p.Ser256Asn)
gnomAD v4 COSMIC
11g.128810522G>CCA383238557FLI1c.914G>C (p.Ser305Thr)
c.893G>C (p.Ser298Thr)
c.695G>C (p.Ser232Thr)
c.314G>C (p.Ser105Thr)
c.*815G>C (n.*815G>C)
n.3476G>C
c.794G>C (p.Ser265Thr)
c.*285G>C (n.*285G>C)
c.767G>C (p.Ser256Thr)
gnomAD v4
11g.128810522G>TCA383238558FLI1c.914G>T (p.Ser305Ile)
c.893G>T (p.Ser298Ile)
c.695G>T (p.Ser232Ile)
c.314G>T (p.Ser105Ile)
c.*815G>T (n.*815G>T)
n.3476G>T
c.794G>T (p.Ser265Ile)
c.*285G>T (n.*285G>T)
c.767G>T (p.Ser256Ile)
11g.128810523C>ACA383238559FLI1c.915C>A (p.Ser305Arg)
c.894C>A (p.Ser298Arg)
c.696C>A (p.Ser232Arg)
c.315C>A (p.Ser105Arg)
c.*816C>A (n.*816C>A)
n.3477C>A
c.795C>A (p.Ser265Arg)
c.*286C>A (n.*286C>A)
c.768C>A (p.Ser256Arg)
11g.128810523C=CA2008248238FLI1c.915C= (p.Ser305=)
c.894C= (p.Ser298=)
c.696C= (p.Ser232=)
c.315C= (p.Ser105=)
c.*816C= (n.*816C=)
n.3477C=
c.795C= (p.Ser265=)
c.*286C= (n.*286C=)
c.768C= (p.Ser256=)
11g.128810523C>GCA383238560FLI1c.915C>G (p.Ser305Arg)
c.894C>G (p.Ser298Arg)
c.696C>G (p.Ser232Arg)
c.315C>G (p.Ser105Arg)
c.*816C>G (n.*816C>G)
n.3477C>G
c.795C>G (p.Ser265Arg)
c.*286C>G (n.*286C>G)
c.768C>G (p.Ser256Arg)
11g.128810523C>TCA477702389FLI1c.915C>T (p.Ser305=)
c.894C>T (p.Ser298=)
c.696C>T (p.Ser232=)
c.315C>T (p.Ser105=)
c.*816C>T (n.*816C>T)
n.3477C>T
c.795C>T (p.Ser265=)
c.*286C>T (n.*286C>T)
c.768C>T (p.Ser256=)
dbSNP
11g.128810524T>ACA383238561FLI1c.916T>A (p.Cys306Ser)
c.895T>A (p.Cys299Ser)
c.697T>A (p.Cys233Ser)
c.316T>A (p.Cys106Ser)
c.*817T>A (n.*817T>A)
n.3478T>A
c.796T>A (p.Cys266Ser)
c.*287T>A (n.*287T>A)
c.769T>A (p.Cys257Ser)
11g.128810524T>CCA383238562FLI1c.916T>C (p.Cys306Arg)
c.895T>C (p.Cys299Arg)
c.697T>C (p.Cys233Arg)
c.316T>C (p.Cys106Arg)
c.*817T>C (n.*817T>C)
n.3478T>C
c.796T>C (p.Cys266Arg)
c.*287T>C (n.*287T>C)
c.769T>C (p.Cys257Arg)
11g.128810524T>GCA383238563FLI1c.916T>G (p.Cys306Gly)
c.895T>G (p.Cys299Gly)
c.697T>G (p.Cys233Gly)
c.316T>G (p.Cys106Gly)
c.*817T>G (n.*817T>G)
n.3478T>G
c.796T>G (p.Cys266Gly)
c.*287T>G (n.*287T>G)
c.769T>G (p.Cys257Gly)
11g.128810525G>ACA383238566FLI1c.917G>A (p.Cys306Tyr)
c.896G>A (p.Cys299Tyr)
c.698G>A (p.Cys233Tyr)
c.317G>A (p.Cys106Tyr)
c.*818G>A (n.*818G>A)
n.3479G>A
c.797G>A (p.Cys266Tyr)
c.*288G>A (n.*288G>A)
c.770G>A (p.Cys257Tyr)
11g.128810525G>CCA383238565FLI1c.917G>C (p.Cys306Ser)
c.896G>C (p.Cys299Ser)
c.698G>C (p.Cys233Ser)
c.317G>C (p.Cys106Ser)
c.*818G>C (n.*818G>C)
n.3479G>C
c.797G>C (p.Cys266Ser)
c.*288G>C (n.*288G>C)
c.770G>C (p.Cys257Ser)
11g.128810525G>TCA383238564FLI1c.917G>T (p.Cys306Phe)
c.896G>T (p.Cys299Phe)
c.698G>T (p.Cys233Phe)
c.317G>T (p.Cys106Phe)
c.*818G>T (n.*818G>T)
n.3479G>T
c.797G>T (p.Cys266Phe)
c.*288G>T (n.*288G>T)
c.770G>T (p.Cys257Phe)
gnomAD v4
11g.128810526T>ACA383238568FLI1c.918T>A (p.Cys306Ter)
c.897T>A (p.Cys299Ter)
c.699T>A (p.Cys233Ter)
c.318T>A (p.Cys106Ter)
c.*819T>A (n.*819T>A)
n.3480T>A
c.798T>A (p.Cys266Ter)
c.*289T>A (n.*289T>A)
c.771T>A (p.Cys257Ter)
11g.128810526T>CCA477702397FLI1c.918T>C (p.Cys306=)
c.897T>C (p.Cys299=)
c.699T>C (p.Cys233=)
c.318T>C (p.Cys106=)
c.*819T>C (n.*819T>C)
n.3480T>C
c.798T>C (p.Cys266=)
c.*289T>C (n.*289T>C)
c.771T>C (p.Cys257=)
11g.128810526T>GCA383238567FLI1c.918T>G (p.Cys306Trp)
c.897T>G (p.Cys299Trp)
c.699T>G (p.Cys233Trp)
c.318T>G (p.Cys106Trp)
c.*819T>G (n.*819T>G)
n.3480T>G
c.798T>G (p.Cys266Trp)
c.*289T>G (n.*289T>G)
c.771T>G (p.Cys257Trp)
11g.128810527A>CCA383238569FLI1c.919A>C (p.Ile307Leu)
c.898A>C (p.Ile300Leu)
c.700A>C (p.Ile234Leu)
c.319A>C (p.Ile107Leu)
c.*820A>C (n.*820A>C)
n.3481A>C
c.799A>C (p.Ile267Leu)
c.*290A>C (n.*290A>C)
c.772A>C (p.Ile258Leu)
11g.128810527A>GCA383238570FLI1c.919A>G (p.Ile307Val)
c.898A>G (p.Ile300Val)
c.700A>G (p.Ile234Val)
c.319A>G (p.Ile107Val)
c.*820A>G (n.*820A>G)
n.3481A>G
c.799A>G (p.Ile267Val)
c.*290A>G (n.*290A>G)
c.772A>G (p.Ile258Val)
11g.128810527A>TCA383238571FLI1c.919A>T (p.Ile307Phe)
c.898A>T (p.Ile300Phe)
c.700A>T (p.Ile234Phe)
c.319A>T (p.Ile107Phe)
c.*820A>T (n.*820A>T)
n.3481A>T
c.799A>T (p.Ile267Phe)
c.*290A>T (n.*290A>T)
c.772A>T (p.Ile258Phe)
11g.128810528T>ACA383238572FLI1c.920T>A (p.Ile307Asn)
c.899T>A (p.Ile300Asn)
c.701T>A (p.Ile234Asn)
c.320T>A (p.Ile107Asn)
c.*821T>A (n.*821T>A)
n.3482T>A
c.800T>A (p.Ile267Asn)
c.*291T>A (n.*291T>A)
c.773T>A (p.Ile258Asn)
11g.128810528T>CCA383238573FLI1c.920T>C (p.Ile307Thr)
c.899T>C (p.Ile300Thr)
c.701T>C (p.Ile234Thr)
c.320T>C (p.Ile107Thr)
c.*821T>C (n.*821T>C)
n.3482T>C
c.800T>C (p.Ile267Thr)
c.*291T>C (n.*291T>C)
c.773T>C (p.Ile258Thr)
11g.128810528T>GCA383238574FLI1c.920T>G (p.Ile307Ser)
c.899T>G (p.Ile300Ser)
c.701T>G (p.Ile234Ser)
c.320T>G (p.Ile107Ser)
c.*821T>G (n.*821T>G)
n.3482T>G
c.800T>G (p.Ile267Ser)
c.*291T>G (n.*291T>G)
c.773T>G (p.Ile258Ser)
11g.128810529C>ACA477702402FLI1c.921C>A (p.Ile307=)
c.900C>A (p.Ile300=)
c.702C>A (p.Ile234=)
c.321C>A (p.Ile107=)
c.*822C>A (n.*822C>A)
n.3483C>A
c.801C>A (p.Ile267=)
c.*292C>A (n.*292C>A)
c.774C>A (p.Ile258=)
11g.128810529C=CA2008248243FLI1c.921C= (p.Ile307=)
c.900C= (p.Ile300=)
c.702C= (p.Ile234=)
c.321C= (p.Ile107=)
c.*822C= (n.*822C=)
n.3483C=
c.801C= (p.Ile267=)
c.*292C= (n.*292C=)
c.774C= (p.Ile258=)
11g.128810529C>GCA383238575FLI1c.921C>G (p.Ile307Met)
c.900C>G (p.Ile300Met)
c.702C>G (p.Ile234Met)
c.321C>G (p.Ile107Met)
c.*822C>G (n.*822C>G)
n.3483C>G
c.801C>G (p.Ile267Met)
c.*292C>G (n.*292C>G)
c.774C>G (p.Ile258Met)
11g.128810529C>TCA477702405FLI1c.921C>T (p.Ile307=)
c.900C>T (p.Ile300=)
c.702C>T (p.Ile234=)
c.321C>T (p.Ile107=)
c.*822C>T (n.*822C>T)
n.3483C>T
c.801C>T (p.Ile267=)
c.*292C>T (n.*292C>T)
c.774C>T (p.Ile258=)
ClinVar dbSNP gnomAD v2 gnomAD v4
11g.128810530A>CCA383238576FLI1c.922A>C (p.Thr308Pro)
c.901A>C (p.Thr301Pro)
c.703A>C (p.Thr235Pro)
c.322A>C (p.Thr108Pro)
c.*823A>C (n.*823A>C)
n.3484A>C
c.802A>C (p.Thr268Pro)
c.*293A>C (n.*293A>C)
c.775A>C (p.Thr259Pro)
11g.128810530A>GCA383238577FLI1c.922A>G (p.Thr308Ala)
c.901A>G (p.Thr301Ala)
c.703A>G (p.Thr235Ala)
c.322A>G (p.Thr108Ala)
c.*823A>G (n.*823A>G)
n.3484A>G
c.802A>G (p.Thr268Ala)
c.*293A>G (n.*293A>G)
c.775A>G (p.Thr259Ala)
11g.128810530A>TCA383238578FLI1c.922A>T (p.Thr308Ser)
c.901A>T (p.Thr301Ser)
c.703A>T (p.Thr235Ser)
c.322A>T (p.Thr108Ser)
c.*823A>T (n.*823A>T)
n.3484A>T
c.802A>T (p.Thr268Ser)
c.*293A>T (n.*293A>T)
c.775A>T (p.Thr259Ser)
11g.128810531C>ACA383238579FLI1c.923C>A (p.Thr308Asn)
c.902C>A (p.Thr301Asn)
c.704C>A (p.Thr235Asn)
c.323C>A (p.Thr108Asn)
c.*824C>A (n.*824C>A)
n.3485C>A
c.803C>A (p.Thr268Asn)
c.*294C>A (n.*294C>A)
c.776C>A (p.Thr259Asn)
11g.128810531C>GCA383238580FLI1c.923C>G (p.Thr308Ser)
c.902C>G (p.Thr301Ser)
c.704C>G (p.Thr235Ser)
c.323C>G (p.Thr108Ser)
c.*824C>G (n.*824C>G)
n.3485C>G
c.803C>G (p.Thr268Ser)
c.*294C>G (n.*294C>G)
c.776C>G (p.Thr259Ser)
11g.128810531C>TCA383238581FLI1c.923C>T (p.Thr308Ile)
c.902C>T (p.Thr301Ile)
c.704C>T (p.Thr235Ile)
c.323C>T (p.Thr108Ile)
c.*824C>T (n.*824C>T)
n.3485C>T
c.803C>T (p.Thr268Ile)
c.*294C>T (n.*294C>T)
c.776C>T (p.Thr259Ile)
11g.128810532C>ACA477702408FLI1c.924C>A (p.Thr308=)
c.903C>A (p.Thr301=)
c.705C>A (p.Thr235=)
c.324C>A (p.Thr108=)
c.*825C>A (n.*825C>A)
n.3486C>A
c.804C>A (p.Thr268=)
c.*295C>A (n.*295C>A)
c.777C>A (p.Thr259=)
11g.128810532C>GCA477702409FLI1c.924C>G (p.Thr308=)
c.903C>G (p.Thr301=)
c.705C>G (p.Thr235=)
c.324C>G (p.Thr108=)
c.*825C>G (n.*825C>G)
n.3486C>G
c.804C>G (p.Thr268=)
c.*295C>G (n.*295C>G)
c.777C>G (p.Thr259=)
gnomAD v4
11g.128810532C>TCA477702411FLI1c.924C>T (p.Thr308=)
c.903C>T (p.Thr301=)
c.705C>T (p.Thr235=)
c.324C>T (p.Thr108=)
c.*825C>T (n.*825C>T)
n.3486C>T
c.804C>T (p.Thr268=)
c.*295C>T (n.*295C>T)
c.777C>T (p.Thr259=)
gnomAD v4
11g.128810533T>ACA383238582FLI1c.925T>A (p.Trp309Arg)
c.904T>A (p.Trp302Arg)
c.706T>A (p.Trp236Arg)
c.325T>A (p.Trp109Arg)
c.*826T>A (n.*826T>A)
n.3487T>A
c.805T>A (p.Trp269Arg)
c.*296T>A (n.*296T>A)
c.778T>A (p.Trp260Arg)
11g.128810533T>CCA383238584FLI1c.925T>C (p.Trp309Arg)
c.904T>C (p.Trp302Arg)
c.706T>C (p.Trp236Arg)
c.325T>C (p.Trp109Arg)
c.*826T>C (n.*826T>C)
n.3487T>C
c.805T>C (p.Trp269Arg)
c.*296T>C (n.*296T>C)
c.778T>C (p.Trp260Arg)
11g.128810533T>GCA383238583FLI1c.925T>G (p.Trp309Gly)
c.904T>G (p.Trp302Gly)
c.706T>G (p.Trp236Gly)
c.325T>G (p.Trp109Gly)
c.*826T>G (n.*826T>G)
n.3487T>G
c.805T>G (p.Trp269Gly)
c.*296T>G (n.*296T>G)
c.778T>G (p.Trp260Gly)
11g.128810534G>ACA383238585FLI1c.926G>A (p.Trp309Ter)
c.905G>A (p.Trp302Ter)
c.707G>A (p.Trp236Ter)
c.326G>A (p.Trp109Ter)
c.*827G>A (n.*827G>A)
n.3488G>A
c.806G>A (p.Trp269Ter)
c.*297G>A (n.*297G>A)
c.779G>A (p.Trp260Ter)
11g.128810534G>CCA383238586FLI1c.926G>C (p.Trp309Ser)
c.905G>C (p.Trp302Ser)
c.707G>C (p.Trp236Ser)
c.326G>C (p.Trp109Ser)
c.*827G>C (n.*827G>C)
n.3488G>C
c.806G>C (p.Trp269Ser)
c.*297G>C (n.*297G>C)
c.779G>C (p.Trp260Ser)
11g.128810534G>TCA383238587FLI1c.926G>T (p.Trp309Leu)
c.905G>T (p.Trp302Leu)
c.707G>T (p.Trp236Leu)
c.326G>T (p.Trp109Leu)
c.*827G>T (n.*827G>T)
n.3488G>T
c.806G>T (p.Trp269Leu)
c.*297G>T (n.*297G>T)
c.779G>T (p.Trp260Leu)
11g.128810535G>ACA383238588FLI1c.927G>A (p.Trp309Ter)
c.906G>A (p.Trp302Ter)
c.708G>A (p.Trp236Ter)
c.327G>A (p.Trp109Ter)
c.*828G>A (n.*828G>A)
n.3489G>A
c.807G>A (p.Trp269Ter)
c.*298G>A (n.*298G>A)
c.780G>A (p.Trp260Ter)
11g.128810535G>CCA383238589FLI1c.927G>C (p.Trp309Cys)
c.906G>C (p.Trp302Cys)
c.708G>C (p.Trp236Cys)
c.327G>C (p.Trp109Cys)
c.*828G>C (n.*828G>C)
n.3489G>C
c.807G>C (p.Trp269Cys)
c.*298G>C (n.*298G>C)
c.780G>C (p.Trp260Cys)
11g.128810535G>TCA383238590FLI1c.927G>T (p.Trp309Cys)
c.906G>T (p.Trp302Cys)
c.708G>T (p.Trp236Cys)
c.327G>T (p.Trp109Cys)
c.*828G>T (n.*828G>T)
n.3489G>T
c.807G>T (p.Trp269Cys)
c.*298G>T (n.*298G>T)
c.780G>T (p.Trp260Cys)
11g.128810536G>ACA383238591FLI1c.928G>A (p.Glu310Lys)
c.907G>A (p.Glu303Lys)
c.709G>A (p.Glu237Lys)
c.328G>A (p.Glu110Lys)
c.*829G>A (n.*829G>A)
n.3490G>A
c.808G>A (p.Glu270Lys)
c.*299G>A (n.*299G>A)
c.781G>A (p.Glu261Lys)
COSMIC COSMIC
11g.128810536G>CCA383238592FLI1c.928G>C (p.Glu310Gln)
c.907G>C (p.Glu303Gln)
c.709G>C (p.Glu237Gln)
c.328G>C (p.Glu110Gln)
c.*829G>C (n.*829G>C)
n.3490G>C
c.808G>C (p.Glu270Gln)
c.*299G>C (n.*299G>C)
c.781G>C (p.Glu261Gln)
11g.128810536G>TCA383238593FLI1c.928G>T (p.Glu310Ter)
c.907G>T (p.Glu303Ter)
c.709G>T (p.Glu237Ter)
c.328G>T (p.Glu110Ter)
c.*829G>T (n.*829G>T)
n.3490G>T
c.808G>T (p.Glu270Ter)
c.*299G>T (n.*299G>T)
c.781G>T (p.Glu261Ter)
11g.128810537A>CCA383238594FLI1c.929A>C (p.Glu310Ala)
c.908A>C (p.Glu303Ala)
c.710A>C (p.Glu237Ala)
c.329A>C (p.Glu110Ala)
c.*830A>C (n.*830A>C)
n.3491A>C
c.809A>C (p.Glu270Ala)
c.*300A>C (n.*300A>C)
c.782A>C (p.Glu261Ala)
11g.128810537A>GCA383238595FLI1c.929A>G (p.Glu310Gly)
c.908A>G (p.Glu303Gly)
c.710A>G (p.Glu237Gly)
c.329A>G (p.Glu110Gly)
c.*830A>G (n.*830A>G)
n.3491A>G
c.809A>G (p.Glu270Gly)
c.*300A>G (n.*300A>G)
c.782A>G (p.Glu261Gly)
11g.128810537A>TCA383238596FLI1c.929A>T (p.Glu310Val)
c.908A>T (p.Glu303Val)
c.710A>T (p.Glu237Val)
c.329A>T (p.Glu110Val)
c.*830A>T (n.*830A>T)
n.3491A>T
c.809A>T (p.Glu270Val)
c.*300A>T (n.*300A>T)
c.782A>T (p.Glu261Val)
COSMIC
11g.128810538G>ACA6357287FLI1c.930G>A (p.Glu310=)
c.909G>A (p.Glu303=)
c.711G>A (p.Glu237=)
c.330G>A (p.Glu110=)
c.*831G>A (n.*831G>A)
n.3492G>A
c.810G>A (p.Glu270=)
c.*301G>A (n.*301G>A)
c.783G>A (p.Glu261=)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.128810538G>CCA383238598FLI1c.930G>C (p.Glu310Asp)
c.909G>C (p.Glu303Asp)
c.711G>C (p.Glu237Asp)
c.330G>C (p.Glu110Asp)
c.*831G>C (n.*831G>C)
n.3492G>C
c.810G>C (p.Glu270Asp)
c.*301G>C (n.*301G>C)
c.783G>C (p.Glu261Asp)
dbSNP gnomAD v3 gnomAD v4
11g.128810538G=CA2008248247FLI1c.930G= (p.Glu310=)
c.909G= (p.Glu303=)
c.711G= (p.Glu237=)
c.330G= (p.Glu110=)
c.*831G= (n.*831G=)
n.3492G=
c.810G= (p.Glu270=)
c.*301G= (n.*301G=)
c.783G= (p.Glu261=)
11g.128810538G>TCA383238597FLI1c.930G>T (p.Glu310Asp)
c.909G>T (p.Glu303Asp)
c.711G>T (p.Glu237Asp)
c.330G>T (p.Glu110Asp)
c.*831G>T (n.*831G>T)
n.3492G>T
c.810G>T (p.Glu270Asp)
c.*301G>T (n.*301G>T)
c.783G>T (p.Glu261Asp)
11g.128810539G>ACA383238599FLI1c.931G>A (p.Gly311Arg)
c.910G>A (p.Gly304Arg)
c.712G>A (p.Gly238Arg)
c.331G>A (p.Gly111Arg)
c.*832G>A (n.*832G>A)
n.3493G>A
c.811G>A (p.Gly271Arg)
c.*302G>A (n.*302G>A)
c.784G>A (p.Gly262Arg)
dbSNP
11g.128810539G>CCA383238600FLI1c.931G>C (p.Gly311Arg)
c.910G>C (p.Gly304Arg)
c.712G>C (p.Gly238Arg)
c.331G>C (p.Gly111Arg)
c.*832G>C (n.*832G>C)
n.3493G>C
c.811G>C (p.Gly271Arg)
c.*302G>C (n.*302G>C)
c.784G>C (p.Gly262Arg)
11g.128810539G=CA2008248250FLI1c.931G= (p.Gly311=)
c.910G= (p.Gly304=)
c.712G= (p.Gly238=)
c.331G= (p.Gly111=)
c.*832G= (n.*832G=)
n.3493G=
c.811G= (p.Gly271=)
c.*302G= (n.*302G=)
c.784G= (p.Gly262=)
11g.128810539G>TCA383238601FLI1c.931G>T (p.Gly311Trp)
c.910G>T (p.Gly304Trp)
c.712G>T (p.Gly238Trp)
c.331G>T (p.Gly111Trp)
c.*832G>T (n.*832G>T)
n.3493G>T
c.811G>T (p.Gly271Trp)
c.*302G>T (n.*302G>T)
c.784G>T (p.Gly262Trp)
11g.128810540G>ACA383238602FLI1c.932G>A (p.Gly311Glu)
c.911G>A (p.Gly304Glu)
c.713G>A (p.Gly238Glu)
c.332G>A (p.Gly111Glu)
c.*833G>A (n.*833G>A)
n.3494G>A
c.812G>A (p.Gly271Glu)
c.*303G>A (n.*303G>A)
c.785G>A (p.Gly262Glu)
11g.128810540G>CCA383238603FLI1c.932G>C (p.Gly311Ala)
c.911G>C (p.Gly304Ala)
c.713G>C (p.Gly238Ala)
c.332G>C (p.Gly111Ala)
c.*833G>C (n.*833G>C)
n.3494G>C
c.812G>C (p.Gly271Ala)
c.*303G>C (n.*303G>C)
c.785G>C (p.Gly262Ala)
11g.128810540G>TCA383238604FLI1c.932G>T (p.Gly311Val)
c.911G>T (p.Gly304Val)
c.713G>T (p.Gly238Val)
c.332G>T (p.Gly111Val)
c.*833G>T (n.*833G>T)
n.3494G>T
c.812G>T (p.Gly271Val)
c.*303G>T (n.*303G>T)
c.785G>T (p.Gly262Val)
11g.128810541G>ACA477702419FLI1c.933G>A (p.Gly311=)
c.912G>A (p.Gly304=)
c.714G>A (p.Gly238=)
c.333G>A (p.Gly111=)
c.*834G>A (n.*834G>A)
n.3495G>A
c.813G>A (p.Gly271=)
c.*304G>A (n.*304G>A)
c.786G>A (p.Gly262=)
11g.128810541G>CCA477702420FLI1c.933G>C (p.Gly311=)
c.912G>C (p.Gly304=)
c.714G>C (p.Gly238=)
c.333G>C (p.Gly111=)
c.*834G>C (n.*834G>C)
n.3495G>C
c.813G>C (p.Gly271=)
c.*304G>C (n.*304G>C)
c.786G>C (p.Gly262=)
dbSNP gnomAD v3 gnomAD v4
11g.128810541G=CA2008248252FLI1c.933G= (p.Gly311=)
c.912G= (p.Gly304=)
c.714G= (p.Gly238=)
c.333G= (p.Gly111=)
c.*834G= (n.*834G=)
n.3495G=
c.813G= (p.Gly271=)
c.*304G= (n.*304G=)
c.786G= (p.Gly262=)
11g.128810541G>TCA477702421FLI1c.933G>T (p.Gly311=)
c.912G>T (p.Gly304=)
c.714G>T (p.Gly238=)
c.333G>T (p.Gly111=)
c.*834G>T (n.*834G>T)
n.3495G>T
c.813G>T (p.Gly271=)
c.*304G>T (n.*304G>T)
c.786G>T (p.Gly262=)
COSMIC
11g.128810542A>CCA383238607FLI1c.934A>C (p.Thr312Pro)
c.913A>C (p.Thr305Pro)
c.715A>C (p.Thr239Pro)
c.334A>C (p.Thr112Pro)
c.*835A>C (n.*835A>C)
n.3496A>C
c.814A>C (p.Thr272Pro)
c.*305A>C (n.*305A>C)
c.787A>C (p.Thr263Pro)
11g.128810542A>GCA383238606FLI1c.934A>G (p.Thr312Ala)
c.913A>G (p.Thr305Ala)
c.715A>G (p.Thr239Ala)
c.334A>G (p.Thr112Ala)
c.*835A>G (n.*835A>G)
n.3496A>G
c.814A>G (p.Thr272Ala)
c.*305A>G (n.*305A>G)
c.787A>G (p.Thr263Ala)
11g.128810542A>TCA383238605FLI1c.934A>T (p.Thr312Ser)
c.913A>T (p.Thr305Ser)
c.715A>T (p.Thr239Ser)
c.334A>T (p.Thr112Ser)
c.*835A>T (n.*835A>T)
n.3496A>T
c.814A>T (p.Thr272Ser)
c.*305A>T (n.*305A>T)
c.787A>T (p.Thr263Ser)
11g.128810543C>ACA383238608FLI1c.935C>A (p.Thr312Asn)
c.914C>A (p.Thr305Asn)
c.716C>A (p.Thr239Asn)
c.335C>A (p.Thr112Asn)
c.*836C>A (n.*836C>A)
n.3497C>A
c.815C>A (p.Thr272Asn)
c.*306C>A (n.*306C>A)
c.788C>A (p.Thr263Asn)
11g.128810543C>GCA383238609FLI1c.935C>G (p.Thr312Ser)
c.914C>G (p.Thr305Ser)
c.716C>G (p.Thr239Ser)
c.335C>G (p.Thr112Ser)
c.*836C>G (n.*836C>G)
n.3497C>G
c.815C>G (p.Thr272Ser)
c.*306C>G (n.*306C>G)
c.788C>G (p.Thr263Ser)
gnomAD v4
11g.128810543C>TCA383238610FLI1c.935C>T (p.Thr312Ile)
c.914C>T (p.Thr305Ile)
c.716C>T (p.Thr239Ile)
c.335C>T (p.Thr112Ile)
c.*836C>T (n.*836C>T)
n.3497C>T
c.815C>T (p.Thr272Ile)
c.*306C>T (n.*306C>T)
c.788C>T (p.Thr263Ile)
11g.128810544C>ACA477702428FLI1c.936C>A (p.Thr312=)
c.915C>A (p.Thr305=)
c.717C>A (p.Thr239=)
c.336C>A (p.Thr112=)
c.*837C>A (n.*837C>A)
n.3498C>A
c.816C>A (p.Thr272=)
c.*307C>A (n.*307C>A)
c.789C>A (p.Thr263=)
dbSNP
11g.128810544C=CA2008248254FLI1c.936C= (p.Thr312=)
c.915C= (p.Thr305=)
c.717C= (p.Thr239=)
c.336C= (p.Thr112=)
c.*837C= (n.*837C=)
n.3498C=
c.816C= (p.Thr272=)
c.*307C= (n.*307C=)
c.789C= (p.Thr263=)
11g.128810544C>GCA477702431FLI1c.936C>G (p.Thr312=)
c.915C>G (p.Thr305=)
c.717C>G (p.Thr239=)
c.336C>G (p.Thr112=)
c.*837C>G (n.*837C>G)
n.3498C>G
c.816C>G (p.Thr272=)
c.*307C>G (n.*307C>G)
c.789C>G (p.Thr263=)
11g.128810544C>TCA477702429FLI1c.936C>T (p.Thr312=)
c.915C>T (p.Thr305=)
c.717C>T (p.Thr239=)
c.336C>T (p.Thr112=)
c.*837C>T (n.*837C>T)
n.3498C>T
c.816C>T (p.Thr272=)
c.*307C>T (n.*307C>T)
c.789C>T (p.Thr263=)
11g.128810545A>CCA383238611FLI1c.937A>C (p.Asn313His)
c.916A>C (p.Asn306His)
c.718A>C (p.Asn240His)
c.337A>C (p.Asn113His)
c.*838A>C (n.*838A>C)
n.3499A>C
c.817A>C (p.Asn273His)
c.*308A>C (n.*308A>C)
c.790A>C (p.Asn264His)
11g.128810545A>GCA383238612FLI1c.937A>G (p.Asn313Asp)
c.916A>G (p.Asn306Asp)
c.718A>G (p.Asn240Asp)
c.337A>G (p.Asn113Asp)
c.*838A>G (n.*838A>G)
n.3499A>G
c.817A>G (p.Asn273Asp)
c.*308A>G (n.*308A>G)
c.790A>G (p.Asn264Asp)
11g.128810545A>TCA383238613FLI1c.937A>T (p.Asn313Tyr)
c.916A>T (p.Asn306Tyr)
c.718A>T (p.Asn240Tyr)
c.337A>T (p.Asn113Tyr)
c.*838A>T (n.*838A>T)
n.3499A>T
c.817A>T (p.Asn273Tyr)
c.*308A>T (n.*308A>T)
c.790A>T (p.Asn264Tyr)
11g.128810546A>CCA383238614FLI1c.938A>C (p.Asn313Thr)
c.917A>C (p.Asn306Thr)
c.719A>C (p.Asn240Thr)
c.338A>C (p.Asn113Thr)
c.*839A>C (n.*839A>C)
n.3500A>C
c.818A>C (p.Asn273Thr)
c.*309A>C (n.*309A>C)
c.791A>C (p.Asn264Thr)
11g.128810546A>GCA383238616FLI1c.938A>G (p.Asn313Ser)
c.917A>G (p.Asn306Ser)
c.719A>G (p.Asn240Ser)
c.338A>G (p.Asn113Ser)
c.*839A>G (n.*839A>G)
n.3500A>G
c.818A>G (p.Asn273Ser)
c.*309A>G (n.*309A>G)
c.791A>G (p.Asn264Ser)
11g.128810546A>TCA383238615FLI1c.938A>T (p.Asn313Ile)
c.917A>T (p.Asn306Ile)
c.719A>T (p.Asn240Ile)
c.338A>T (p.Asn113Ile)
c.*839A>T (n.*839A>T)
n.3500A>T
c.818A>T (p.Asn273Ile)
c.*309A>T (n.*309A>T)
c.791A>T (p.Asn264Ile)
11g.128810547C>ACA383238617FLI1c.939C>A (p.Asn313Lys)
c.918C>A (p.Asn306Lys)
c.720C>A (p.Asn240Lys)
c.339C>A (p.Asn113Lys)
c.*840C>A (n.*840C>A)
n.3501C>A
c.819C>A (p.Asn273Lys)
c.*310C>A (n.*310C>A)
c.792C>A (p.Asn264Lys)
11g.128810547C=CA2008248256FLI1c.939C= (p.Asn313=)
c.918C= (p.Asn306=)
c.720C= (p.Asn240=)
c.339C= (p.Asn113=)
c.*840C= (n.*840C=)
n.3501C=
c.819C= (p.Asn273=)
c.*310C= (n.*310C=)
c.792C= (p.Asn264=)
11g.128810547C>GCA383238618FLI1c.939C>G (p.Asn313Lys)
c.918C>G (p.Asn306Lys)
c.720C>G (p.Asn240Lys)
c.339C>G (p.Asn113Lys)
c.*840C>G (n.*840C>G)
n.3501C>G
c.819C>G (p.Asn273Lys)
c.*310C>G (n.*310C>G)
c.792C>G (p.Asn264Lys)
11g.128810547C>TCA6357288FLI1c.939C>T (p.Asn313=)
c.918C>T (p.Asn306=)
c.720C>T (p.Asn240=)
c.339C>T (p.Asn113=)
c.*840C>T (n.*840C>T)
n.3501C>T
c.819C>T (p.Asn273=)
c.*310C>T (n.*310C>T)
c.792C>T (p.Asn264=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.128810548G>ACA383238619FLI1c.940G>A (p.Gly314Arg)
c.919G>A (p.Gly307Arg)
c.721G>A (p.Gly241Arg)
c.340G>A (p.Gly114Arg)
c.*841G>A (n.*841G>A)
n.3502G>A
c.820G>A (p.Gly274Arg)
c.*311G>A (n.*311G>A)
c.793G>A (p.Gly265Arg)
COSMIC COSMIC
11g.128810548G>CCA383238620FLI1c.940G>C (p.Gly314Arg)
c.919G>C (p.Gly307Arg)
c.721G>C (p.Gly241Arg)
c.340G>C (p.Gly114Arg)
c.*841G>C (n.*841G>C)
n.3502G>C
c.820G>C (p.Gly274Arg)
c.*311G>C (n.*311G>C)
c.793G>C (p.Gly265Arg)
11g.128810548G>TCA383238621FLI1c.940G>T (p.Gly314Trp)
c.919G>T (p.Gly307Trp)
c.721G>T (p.Gly241Trp)
c.340G>T (p.Gly114Trp)
c.*841G>T (n.*841G>T)
n.3502G>T
c.820G>T (p.Gly274Trp)
c.*311G>T (n.*311G>T)
c.793G>T (p.Gly265Trp)
11g.128810549G>ACA383238622FLI1c.941G>A (p.Gly314Glu)
c.920G>A (p.Gly307Glu)
c.722G>A (p.Gly241Glu)
c.341G>A (p.Gly114Glu)
c.*842G>A (n.*842G>A)
n.3503G>A
c.821G>A (p.Gly274Glu)
c.*312G>A (n.*312G>A)
c.794G>A (p.Gly265Glu)
11g.128810549G>CCA383238623FLI1c.941G>C (p.Gly314Ala)
c.920G>C (p.Gly307Ala)
c.722G>C (p.Gly241Ala)
c.341G>C (p.Gly114Ala)
c.*842G>C (n.*842G>C)
n.3503G>C
c.821G>C (p.Gly274Ala)
c.*312G>C (n.*312G>C)
c.794G>C (p.Gly265Ala)
11g.128810549G>TCA383238624FLI1c.941G>T (p.Gly314Val)
c.920G>T (p.Gly307Val)
c.722G>T (p.Gly241Val)
c.341G>T (p.Gly114Val)
c.*842G>T (n.*842G>T)
n.3503G>T
c.821G>T (p.Gly274Val)
c.*312G>T (n.*312G>T)
c.794G>T (p.Gly265Val)
11g.128810550G>ACA477702440FLI1c.942G>A (p.Gly314=)
c.921G>A (p.Gly307=)
c.723G>A (p.Gly241=)
c.342G>A (p.Gly114=)
c.*843G>A (n.*843G>A)
n.3504G>A
c.822G>A (p.Gly274=)
c.*313G>A (n.*313G>A)
c.795G>A (p.Gly265=)
COSMIC
11g.128810550G>CCA477702442FLI1c.942G>C (p.Gly314=)
c.921G>C (p.Gly307=)
c.723G>C (p.Gly241=)
c.342G>C (p.Gly114=)
c.*843G>C (n.*843G>C)
n.3504G>C
c.822G>C (p.Gly274=)
c.*313G>C (n.*313G>C)
c.795G>C (p.Gly265=)
dbSNP gnomAD v2 gnomAD v4
11g.128810550G=CA2008248258FLI1c.942G= (p.Gly314=)
c.921G= (p.Gly307=)
c.723G= (p.Gly241=)
c.342G= (p.Gly114=)
c.*843G= (n.*843G=)
n.3504G=
c.822G= (p.Gly274=)
c.*313G= (n.*313G=)
c.795G= (p.Gly265=)
11g.128810550G>TCA477702443FLI1c.942G>T (p.Gly314=)
c.921G>T (p.Gly307=)
c.723G>T (p.Gly241=)
c.342G>T (p.Gly114=)
c.*843G>T (n.*843G>T)
n.3504G>T
c.822G>T (p.Gly274=)
c.*313G>T (n.*313G>T)
c.795G>T (p.Gly265=)

Number of alleles fetched