Chr Mutation (hg38) CAid Gene Transcript Linkouts
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=)
11g.128810551G>ACA383238625FLI1c.943G>A (p.Glu315Lys)
c.922G>A (p.Glu308Lys)
c.724G>A (p.Glu242Lys)
c.343G>A (p.Glu115Lys)
c.*844G>A (n.*844G>A)
n.3505G>A
c.823G>A (p.Glu275Lys)
c.*314G>A (n.*314G>A)
c.796G>A (p.Glu266Lys)
11g.128810551G>CCA383238626FLI1c.943G>C (p.Glu315Gln)
c.922G>C (p.Glu308Gln)
c.724G>C (p.Glu242Gln)
c.343G>C (p.Glu115Gln)
c.*844G>C (n.*844G>C)
n.3505G>C
c.823G>C (p.Glu275Gln)
c.*314G>C (n.*314G>C)
c.796G>C (p.Glu266Gln)
11g.128810551G>TCA383238627FLI1c.943G>T (p.Glu315Ter)
c.922G>T (p.Glu308Ter)
c.724G>T (p.Glu242Ter)
c.343G>T (p.Glu115Ter)
c.*844G>T (n.*844G>T)
n.3505G>T
c.823G>T (p.Glu275Ter)
c.*314G>T (n.*314G>T)
c.796G>T (p.Glu266Ter)
11g.128810552A>CCA383238630FLI1c.944A>C (p.Glu315Ala)
c.923A>C (p.Glu308Ala)
c.725A>C (p.Glu242Ala)
c.344A>C (p.Glu115Ala)
c.*845A>C (n.*845A>C)
n.3506A>C
c.824A>C (p.Glu275Ala)
c.*315A>C (n.*315A>C)
c.797A>C (p.Glu266Ala)
11g.128810552A>GCA383238628FLI1c.944A>G (p.Glu315Gly)
c.923A>G (p.Glu308Gly)
c.725A>G (p.Glu242Gly)
c.344A>G (p.Glu115Gly)
c.*845A>G (n.*845A>G)
n.3506A>G
c.824A>G (p.Glu275Gly)
c.*315A>G (n.*315A>G)
c.797A>G (p.Glu266Gly)
11g.128810552A>TCA383238629FLI1c.944A>T (p.Glu315Val)
c.923A>T (p.Glu308Val)
c.725A>T (p.Glu242Val)
c.344A>T (p.Glu115Val)
c.*845A>T (n.*845A>T)
n.3506A>T
c.824A>T (p.Glu275Val)
c.*315A>T (n.*315A>T)
c.797A>T (p.Glu266Val)
11g.128810553G>ACA6357289FLI1c.945G>A (p.Glu315=)
c.924G>A (p.Glu308=)
c.726G>A (p.Glu242=)
c.345G>A (p.Glu115=)
c.*846G>A (n.*846G>A)
n.3507G>A
c.825G>A (p.Glu275=)
c.*316G>A (n.*316G>A)
c.798G>A (p.Glu266=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.128810553G>CCA383238631FLI1c.945G>C (p.Glu315Asp)
c.924G>C (p.Glu308Asp)
c.726G>C (p.Glu242Asp)
c.345G>C (p.Glu115Asp)
c.*846G>C (n.*846G>C)
n.3507G>C
c.825G>C (p.Glu275Asp)
c.*316G>C (n.*316G>C)
c.798G>C (p.Glu266Asp)
11g.128810553G=CA2008248262FLI1c.945G= (p.Glu315=)
c.924G= (p.Glu308=)
c.726G= (p.Glu242=)
c.345G= (p.Glu115=)
c.*846G= (n.*846G=)
n.3507G=
c.825G= (p.Glu275=)
c.*316G= (n.*316G=)
c.798G= (p.Glu266=)
11g.128810553G>TCA383238632FLI1c.945G>T (p.Glu315Asp)
c.924G>T (p.Glu308Asp)
c.726G>T (p.Glu242Asp)
c.345G>T (p.Glu115Asp)
c.*846G>T (n.*846G>T)
n.3507G>T
c.825G>T (p.Glu275Asp)
c.*316G>T (n.*316G>T)
c.798G>T (p.Glu266Asp)
11g.128810554T>ACA383238633FLI1c.946T>A (p.Phe316Ile)
c.925T>A (p.Phe309Ile)
c.727T>A (p.Phe243Ile)
c.346T>A (p.Phe116Ile)
c.*847T>A (n.*847T>A)
n.3508T>A
c.826T>A (p.Phe276Ile)
c.*317T>A (n.*317T>A)
c.799T>A (p.Phe267Ile)
11g.128810554T>CCA383238634FLI1c.946T>C (p.Phe316Leu)
c.925T>C (p.Phe309Leu)
c.727T>C (p.Phe243Leu)
c.346T>C (p.Phe116Leu)
c.*847T>C (n.*847T>C)
n.3508T>C
c.826T>C (p.Phe276Leu)
c.*317T>C (n.*317T>C)
c.799T>C (p.Phe267Leu)
11g.128810554T>GCA383238635FLI1c.946T>G (p.Phe316Val)
c.925T>G (p.Phe309Val)
c.727T>G (p.Phe243Val)
c.346T>G (p.Phe116Val)
c.*847T>G (n.*847T>G)
n.3508T>G
c.826T>G (p.Phe276Val)
c.*317T>G (n.*317T>G)
c.799T>G (p.Phe267Val)
11g.128810555T>ACA383238638FLI1c.947T>A (p.Phe316Tyr)
c.926T>A (p.Phe309Tyr)
c.728T>A (p.Phe243Tyr)
c.347T>A (p.Phe116Tyr)
c.*848T>A (n.*848T>A)
n.3509T>A
c.827T>A (p.Phe276Tyr)
c.*318T>A (n.*318T>A)
c.800T>A (p.Phe267Tyr)
11g.128810555T>CCA383238636FLI1c.947T>C (p.Phe316Ser)
c.926T>C (p.Phe309Ser)
c.728T>C (p.Phe243Ser)
c.347T>C (p.Phe116Ser)
c.*848T>C (n.*848T>C)
n.3509T>C
c.827T>C (p.Phe276Ser)
c.*318T>C (n.*318T>C)
c.800T>C (p.Phe267Ser)
11g.128810555T>GCA383238637FLI1c.947T>G (p.Phe316Cys)
c.926T>G (p.Phe309Cys)
c.728T>G (p.Phe243Cys)
c.347T>G (p.Phe116Cys)
c.*848T>G (n.*848T>G)
n.3509T>G
c.827T>G (p.Phe276Cys)
c.*318T>G (n.*318T>G)
c.800T>G (p.Phe267Cys)
11g.128810556C>ACA383238639FLI1c.948C>A (p.Phe316Leu)
c.927C>A (p.Phe309Leu)
c.729C>A (p.Phe243Leu)
c.348C>A (p.Phe116Leu)
c.*849C>A (n.*849C>A)
n.3510C>A
c.828C>A (p.Phe276Leu)
c.*319C>A (n.*319C>A)
c.801C>A (p.Phe267Leu)
11g.128810556C>GCA383238640FLI1c.948C>G (p.Phe316Leu)
c.927C>G (p.Phe309Leu)
c.729C>G (p.Phe243Leu)
c.348C>G (p.Phe116Leu)
c.*849C>G (n.*849C>G)
n.3510C>G
c.828C>G (p.Phe276Leu)
c.*319C>G (n.*319C>G)
c.801C>G (p.Phe267Leu)
11g.128810556C>TCA477702454FLI1c.948C>T (p.Phe316=)
c.927C>T (p.Phe309=)
c.729C>T (p.Phe243=)
c.348C>T (p.Phe116=)
c.*849C>T (n.*849C>T)
n.3510C>T
c.828C>T (p.Phe276=)
c.*319C>T (n.*319C>T)
c.801C>T (p.Phe267=)
11g.128810557A>CCA383238641FLI1c.949A>C (p.Lys317Gln)
c.928A>C (p.Lys310Gln)
c.730A>C (p.Lys244Gln)
c.349A>C (p.Lys117Gln)
c.*850A>C (n.*850A>C)
n.3511A>C
c.829A>C (p.Lys277Gln)
c.*320A>C (n.*320A>C)
c.802A>C (p.Lys268Gln)
11g.128810557A>GCA383238642FLI1c.949A>G (p.Lys317Glu)
c.928A>G (p.Lys310Glu)
c.730A>G (p.Lys244Glu)
c.349A>G (p.Lys117Glu)
c.*850A>G (n.*850A>G)
n.3511A>G
c.829A>G (p.Lys277Glu)
c.*320A>G (n.*320A>G)
c.802A>G (p.Lys268Glu)
11g.128810557A>TCA383238643FLI1c.949A>T (p.Lys317Ter)
c.928A>T (p.Lys310Ter)
c.730A>T (p.Lys244Ter)
c.349A>T (p.Lys117Ter)
c.*850A>T (n.*850A>T)
n.3511A>T
c.829A>T (p.Lys277Ter)
c.*320A>T (n.*320A>T)
c.802A>T (p.Lys268Ter)
11g.128810558A>CCA383238644FLI1c.950A>C (p.Lys317Thr)
c.929A>C (p.Lys310Thr)
c.731A>C (p.Lys244Thr)
c.350A>C (p.Lys117Thr)
c.*851A>C (n.*851A>C)
n.3512A>C
c.830A>C (p.Lys277Thr)
c.*321A>C (n.*321A>C)
c.803A>C (p.Lys268Thr)
11g.128810558A>GCA383238646FLI1c.950A>G (p.Lys317Arg)
c.929A>G (p.Lys310Arg)
c.731A>G (p.Lys244Arg)
c.350A>G (p.Lys117Arg)
c.*851A>G (n.*851A>G)
n.3512A>G
c.830A>G (p.Lys277Arg)
c.*321A>G (n.*321A>G)
c.803A>G (p.Lys268Arg)
11g.128810558A>TCA383238645FLI1c.950A>T (p.Lys317Ile)
c.929A>T (p.Lys310Ile)
c.731A>T (p.Lys244Ile)
c.350A>T (p.Lys117Ile)
c.*851A>T (n.*851A>T)
n.3512A>T
c.830A>T (p.Lys277Ile)
c.*321A>T (n.*321A>T)
c.803A>T (p.Lys268Ile)
11g.128810559A=CA2008248266FLI1c.951A= (p.Lys317=)
c.930A= (p.Lys310=)
c.732A= (p.Lys244=)
c.351A= (p.Lys117=)
c.*852A= (n.*852A=)
n.3513A=
c.831A= (p.Lys277=)
c.*322A= (n.*322A=)
c.804A= (p.Lys268=)
11g.128810559A>CCA383238647FLI1c.951A>C (p.Lys317Asn)
c.930A>C (p.Lys310Asn)
c.732A>C (p.Lys244Asn)
c.351A>C (p.Lys117Asn)
c.*852A>C (n.*852A>C)
n.3513A>C
c.831A>C (p.Lys277Asn)
c.*322A>C (n.*322A>C)
c.804A>C (p.Lys268Asn)
11g.128810559A>GCA477702462FLI1c.951A>G (p.Lys317=)
c.930A>G (p.Lys310=)
c.732A>G (p.Lys244=)
c.351A>G (p.Lys117=)
c.*852A>G (n.*852A>G)
n.3513A>G
c.831A>G (p.Lys277=)
c.*322A>G (n.*322A>G)
c.804A>G (p.Lys268=)
dbSNP gnomAD v4
11g.128810559A>TCA383238648FLI1c.951A>T (p.Lys317Asn)
c.930A>T (p.Lys310Asn)
c.732A>T (p.Lys244Asn)
c.351A>T (p.Lys117Asn)
c.*852A>T (n.*852A>T)
n.3513A>T
c.831A>T (p.Lys277Asn)
c.*322A>T (n.*322A>T)
c.804A>T (p.Lys268Asn)
11g.128810560A>CCA383238649FLI1c.952A>C (p.Met318Leu)
c.931A>C (p.Met311Leu)
c.733A>C (p.Met245Leu)
c.352A>C (p.Met118Leu)
c.*853A>C (n.*853A>C)
n.3514A>C
c.832A>C (p.Met278Leu)
c.*323A>C (n.*323A>C)
c.805A>C (p.Met269Leu)
gnomAD v3 gnomAD v4
11g.128810560A>GCA383238650FLI1c.952A>G (p.Met318Val)
c.931A>G (p.Met311Val)
c.733A>G (p.Met245Val)
c.352A>G (p.Met118Val)
c.*853A>G (n.*853A>G)
n.3514A>G
c.832A>G (p.Met278Val)
c.*323A>G (n.*323A>G)
c.805A>G (p.Met269Val)
11g.128810560A>TCA383238651FLI1c.952A>T (p.Met318Leu)
c.931A>T (p.Met311Leu)
c.733A>T (p.Met245Leu)
c.352A>T (p.Met118Leu)
c.*853A>T (n.*853A>T)
n.3514A>T
c.832A>T (p.Met278Leu)
c.*323A>T (n.*323A>T)
c.805A>T (p.Met269Leu)
11g.128810561T>ACA383238652FLI1c.953T>A (p.Met318Lys)
c.932T>A (p.Met311Lys)
c.734T>A (p.Met245Lys)
c.353T>A (p.Met118Lys)
c.*854T>A (n.*854T>A)
n.3515T>A
c.833T>A (p.Met278Lys)
c.*324T>A (n.*324T>A)
c.806T>A (p.Met269Lys)
11g.128810561T>CCA383238653FLI1c.953T>C (p.Met318Thr)
c.932T>C (p.Met311Thr)
c.734T>C (p.Met245Thr)
c.353T>C (p.Met118Thr)
c.*854T>C (n.*854T>C)
n.3515T>C
c.833T>C (p.Met278Thr)
c.*324T>C (n.*324T>C)
c.806T>C (p.Met269Thr)
11g.128810561T>GCA383238654FLI1c.953T>G (p.Met318Arg)
c.932T>G (p.Met311Arg)
c.734T>G (p.Met245Arg)
c.353T>G (p.Met118Arg)
c.*854T>G (n.*854T>G)
n.3515T>G
c.833T>G (p.Met278Arg)
c.*324T>G (n.*324T>G)
c.806T>G (p.Met269Arg)
11g.128810562G>ACA383238655FLI1c.954G>A (p.Met318Ile)
c.933G>A (p.Met311Ile)
c.735G>A (p.Met245Ile)
c.354G>A (p.Met118Ile)
c.*855G>A (n.*855G>A)
n.3516G>A
c.834G>A (p.Met278Ile)
c.*325G>A (n.*325G>A)
c.807G>A (p.Met269Ile)
11g.128810562G>CCA383238656FLI1c.954G>C (p.Met318Ile)
c.933G>C (p.Met311Ile)
c.735G>C (p.Met245Ile)
c.354G>C (p.Met118Ile)
c.*855G>C (n.*855G>C)
n.3516G>C
c.834G>C (p.Met278Ile)
c.*325G>C (n.*325G>C)
c.807G>C (p.Met269Ile)
gnomAD v3 gnomAD v4
11g.128810562G>TCA383238657FLI1c.954G>T (p.Met318Ile)
c.933G>T (p.Met311Ile)
c.735G>T (p.Met245Ile)
c.354G>T (p.Met118Ile)
c.*855G>T (n.*855G>T)
n.3516G>T
c.834G>T (p.Met278Ile)
c.*325G>T (n.*325G>T)
c.807G>T (p.Met269Ile)
11g.128810563A>CCA383238660FLI1c.955A>C (p.Thr319Pro)
c.934A>C (p.Thr312Pro)
c.736A>C (p.Thr246Pro)
c.355A>C (p.Thr119Pro)
c.*856A>C (n.*856A>C)
n.3517A>C
c.835A>C (p.Thr279Pro)
c.*326A>C (n.*326A>C)
c.808A>C (p.Thr270Pro)
11g.128810563A>GCA383238658FLI1c.955A>G (p.Thr319Ala)
c.934A>G (p.Thr312Ala)
c.736A>G (p.Thr246Ala)
c.355A>G (p.Thr119Ala)
c.*856A>G (n.*856A>G)
n.3517A>G
c.835A>G (p.Thr279Ala)
c.*326A>G (n.*326A>G)
c.808A>G (p.Thr270Ala)
11g.128810563A>TCA383238659FLI1c.955A>T (p.Thr319Ser)
c.934A>T (p.Thr312Ser)
c.736A>T (p.Thr246Ser)
c.355A>T (p.Thr119Ser)
c.*856A>T (n.*856A>T)
n.3517A>T
c.835A>T (p.Thr279Ser)
c.*326A>T (n.*326A>T)
c.808A>T (p.Thr270Ser)
11g.128810564C>ACA383238661FLI1c.956C>A (p.Thr319Lys)
c.935C>A (p.Thr312Lys)
c.737C>A (p.Thr246Lys)
c.356C>A (p.Thr119Lys)
c.*857C>A (n.*857C>A)
n.3518C>A
c.836C>A (p.Thr279Lys)
c.*327C>A (n.*327C>A)
c.809C>A (p.Thr270Lys)
11g.128810564C=CA2008248269FLI1c.956C= (p.Thr319=)
c.935C= (p.Thr312=)
c.737C= (p.Thr246=)
c.356C= (p.Thr119=)
c.*857C= (n.*857C=)
n.3518C=
c.836C= (p.Thr279=)
c.*327C= (n.*327C=)
c.809C= (p.Thr270=)
11g.128810564C>GCA383238663FLI1c.956C>G (p.Thr319Arg)
c.935C>G (p.Thr312Arg)
c.737C>G (p.Thr246Arg)
c.356C>G (p.Thr119Arg)
c.*857C>G (n.*857C>G)
n.3518C>G
c.836C>G (p.Thr279Arg)
c.*327C>G (n.*327C>G)
c.809C>G (p.Thr270Arg)
gnomAD v4
11g.128810564C>TCA383238662FLI1c.956C>T (p.Thr319Met)
c.935C>T (p.Thr312Met)
c.737C>T (p.Thr246Met)
c.356C>T (p.Thr119Met)
c.*857C>T (n.*857C>T)
n.3518C>T
c.836C>T (p.Thr279Met)
c.*327C>T (n.*327C>T)
c.809C>T (p.Thr270Met)
dbSNP gnomAD v4
11g.128810565G>ACA230604897FLI1c.957G>A (p.Thr319=)
c.936G>A (p.Thr312=)
c.738G>A (p.Thr246=)
c.357G>A (p.Thr119=)
c.*858G>A (n.*858G>A)
n.3519G>A
c.837G>A (p.Thr279=)
c.*328G>A (n.*328G>A)
c.810G>A (p.Thr270=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.128810565G>CCA477702470FLI1c.957G>C (p.Thr319=)
c.936G>C (p.Thr312=)
c.738G>C (p.Thr246=)
c.357G>C (p.Thr119=)
c.*858G>C (n.*858G>C)
n.3519G>C
c.837G>C (p.Thr279=)
c.*328G>C (n.*328G>C)
c.810G>C (p.Thr270=)
gnomAD v3 gnomAD v4
11g.128810565G=CA2008248273FLI1c.957G= (p.Thr319=)
c.936G= (p.Thr312=)
c.738G= (p.Thr246=)
c.357G= (p.Thr119=)
c.*858G= (n.*858G=)
n.3519G=
c.837G= (p.Thr279=)
c.*328G= (n.*328G=)
c.810G= (p.Thr270=)
11g.128810565G>TCA477702471FLI1c.957G>T (p.Thr319=)
c.936G>T (p.Thr312=)
c.738G>T (p.Thr246=)
c.357G>T (p.Thr119=)
c.*858G>T (n.*858G>T)
n.3519G>T
c.837G>T (p.Thr279=)
c.*328G>T (n.*328G>T)
c.810G>T (p.Thr270=)
11g.128810566G>ACA383238666FLI1c.958G>A (p.Asp320Asn)
c.937G>A (p.Asp313Asn)
c.739G>A (p.Asp247Asn)
c.358G>A (p.Asp120Asn)
c.*859G>A (n.*859G>A)
n.3520G>A
c.838G>A (p.Asp280Asn)
c.*329G>A (n.*329G>A)
c.811G>A (p.Asp271Asn)
gnomAD v4
11g.128810566G>CCA383238664FLI1c.958G>C (p.Asp320His)
c.937G>C (p.Asp313His)
c.739G>C (p.Asp247His)
c.358G>C (p.Asp120His)
c.*859G>C (n.*859G>C)
n.3520G>C
c.838G>C (p.Asp280His)
c.*329G>C (n.*329G>C)
c.811G>C (p.Asp271His)
11g.128810566G>TCA383238665FLI1c.958G>T (p.Asp320Tyr)
c.937G>T (p.Asp313Tyr)
c.739G>T (p.Asp247Tyr)
c.358G>T (p.Asp120Tyr)
c.*859G>T (n.*859G>T)
n.3520G>T
c.838G>T (p.Asp280Tyr)
c.*329G>T (n.*329G>T)
c.811G>T (p.Asp271Tyr)
11g.128810567A=CA2008248278FLI1c.959A= (p.Asp320=)
c.938A= (p.Asp313=)
c.740A= (p.Asp247=)
c.359A= (p.Asp120=)
c.*860A= (n.*860A=)
n.3521A=
c.839A= (p.Asp280=)
c.*330A= (n.*330A=)
c.812A= (p.Asp271=)
11g.128810567A>CCA383238667FLI1c.959A>C (p.Asp320Ala)
c.938A>C (p.Asp313Ala)
c.740A>C (p.Asp247Ala)
c.359A>C (p.Asp120Ala)
c.*860A>C (n.*860A>C)
n.3521A>C
c.839A>C (p.Asp280Ala)
c.*330A>C (n.*330A>C)
c.812A>C (p.Asp271Ala)
11g.128810567A>GCA383238668FLI1c.959A>G (p.Asp320Gly)
c.938A>G (p.Asp313Gly)
c.740A>G (p.Asp247Gly)
c.359A>G (p.Asp120Gly)
c.*860A>G (n.*860A>G)
n.3521A>G
c.839A>G (p.Asp280Gly)
c.*330A>G (n.*330A>G)
c.812A>G (p.Asp271Gly)
dbSNP
11g.128810567A>TCA383238669FLI1c.959A>T (p.Asp320Val)
c.938A>T (p.Asp313Val)
c.740A>T (p.Asp247Val)
c.359A>T (p.Asp120Val)
c.*860A>T (n.*860A>T)
n.3521A>T
c.839A>T (p.Asp280Val)
c.*330A>T (n.*330A>T)
c.812A>T (p.Asp271Val)
11g.128810568C>ACA6357290FLI1c.960C>A (p.Asp320Glu)
c.939C>A (p.Asp313Glu)
c.741C>A (p.Asp247Glu)
c.360C>A (p.Asp120Glu)
c.*861C>A (n.*861C>A)
n.3522C>A
c.840C>A (p.Asp280Glu)
c.*331C>A (n.*331C>A)
c.813C>A (p.Asp271Glu)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.128810568C=CA2008248281FLI1c.960C= (p.Asp320=)
c.939C= (p.Asp313=)
c.741C= (p.Asp247=)
c.360C= (p.Asp120=)
c.*861C= (n.*861C=)
n.3522C=
c.840C= (p.Asp280=)
c.*331C= (n.*331C=)
c.813C= (p.Asp271=)
11g.128810568C>GCA383238670FLI1c.960C>G (p.Asp320Glu)
c.939C>G (p.Asp313Glu)
c.741C>G (p.Asp247Glu)
c.360C>G (p.Asp120Glu)
c.*861C>G (n.*861C>G)
n.3522C>G
c.840C>G (p.Asp280Glu)
c.*331C>G (n.*331C>G)
c.813C>G (p.Asp271Glu)
11g.128810568C>TCA477702480FLI1c.960C>T (p.Asp320=)
c.939C>T (p.Asp313=)
c.741C>T (p.Asp247=)
c.360C>T (p.Asp120=)
c.*861C>T (n.*861C>T)
n.3522C>T
c.840C>T (p.Asp280=)
c.*331C>T (n.*331C>T)
c.813C>T (p.Asp271=)
gnomAD v3 gnomAD v4
11g.128810569C>ACA383238671FLI1c.961C>A (p.Pro321Thr)
c.940C>A (p.Pro314Thr)
c.742C>A (p.Pro248Thr)
c.361C>A (p.Pro121Thr)
c.*862C>A (n.*862C>A)
n.3523C>A
c.841C>A (p.Pro281Thr)
c.*332C>A (n.*332C>A)
c.814C>A (p.Pro272Thr)
11g.128810569C=CA2008248284FLI1c.961C= (p.Pro321=)
c.940C= (p.Pro314=)
c.742C= (p.Pro248=)
c.361C= (p.Pro121=)
c.*862C= (n.*862C=)
n.3523C=
c.841C= (p.Pro281=)
c.*332C= (n.*332C=)
c.814C= (p.Pro272=)
11g.128810569C>GCA383238672FLI1c.961C>G (p.Pro321Ala)
c.940C>G (p.Pro314Ala)
c.742C>G (p.Pro248Ala)
c.361C>G (p.Pro121Ala)
c.*862C>G (n.*862C>G)
n.3523C>G
c.841C>G (p.Pro281Ala)
c.*332C>G (n.*332C>G)
c.814C>G (p.Pro272Ala)
11g.128810569C>TCA383238673FLI1c.961C>T (p.Pro321Ser)
c.940C>T (p.Pro314Ser)
c.742C>T (p.Pro248Ser)
c.361C>T (p.Pro121Ser)
c.*862C>T (n.*862C>T)
n.3523C>T
c.841C>T (p.Pro281Ser)
c.*332C>T (n.*332C>T)
c.814C>T (p.Pro272Ser)
dbSNP gnomAD v2 gnomAD v4
11g.128810570C>ACA383238674FLI1c.962C>A (p.Pro321His)
c.941C>A (p.Pro314His)
c.743C>A (p.Pro248His)
c.362C>A (p.Pro121His)
c.*863C>A (n.*863C>A)
n.3524C>A
c.842C>A (p.Pro281His)
c.*333C>A (n.*333C>A)
c.815C>A (p.Pro272His)
11g.128810570C>GCA383238675FLI1c.962C>G (p.Pro321Arg)
c.941C>G (p.Pro314Arg)
c.743C>G (p.Pro248Arg)
c.362C>G (p.Pro121Arg)
c.*863C>G (n.*863C>G)
n.3524C>G
c.842C>G (p.Pro281Arg)
c.*333C>G (n.*333C>G)
c.815C>G (p.Pro272Arg)
11g.128810570C>TCA383238676FLI1c.962C>T (p.Pro321Leu)
c.941C>T (p.Pro314Leu)
c.743C>T (p.Pro248Leu)
c.362C>T (p.Pro121Leu)
c.*863C>T (n.*863C>T)
n.3524C>T
c.842C>T (p.Pro281Leu)
c.*333C>T (n.*333C>T)
c.815C>T (p.Pro272Leu)
11g.128810571C>ACA477702484FLI1c.963C>A (p.Pro321=)
c.942C>A (p.Pro314=)
c.744C>A (p.Pro248=)
c.363C>A (p.Pro121=)
c.*864C>A (n.*864C>A)
n.3525C>A
c.843C>A (p.Pro281=)
c.*334C>A (n.*334C>A)
c.816C>A (p.Pro272=)
COSMIC
11g.128810571C=CA2008248289FLI1c.963C= (p.Pro321=)
c.942C= (p.Pro314=)
c.744C= (p.Pro248=)
c.363C= (p.Pro121=)
c.*864C= (n.*864C=)
n.3525C=
c.843C= (p.Pro281=)
c.*334C= (n.*334C=)
c.816C= (p.Pro272=)
11g.128810571C>GCA6357291FLI1c.963C>G (p.Pro321=)
c.942C>G (p.Pro314=)
c.744C>G (p.Pro248=)
c.363C>G (p.Pro121=)
c.*864C>G (n.*864C>G)
n.3525C>G
c.843C>G (p.Pro281=)
c.*334C>G (n.*334C>G)
c.816C>G (p.Pro272=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.128810571C>TCA6357292FLI1c.963C>T (p.Pro321=)
c.942C>T (p.Pro314=)
c.744C>T (p.Pro248=)
c.363C>T (p.Pro121=)
c.*864C>T (n.*864C>T)
n.3525C>T
c.843C>T (p.Pro281=)
c.*334C>T (n.*334C>T)
c.816C>T (p.Pro272=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.128810572G>ACA383238677FLI1c.964G>A (p.Asp322Asn)
c.943G>A (p.Asp315Asn)
c.745G>A (p.Asp249Asn)
c.364G>A (p.Asp122Asn)
c.*865G>A (n.*865G>A)
n.3526G>A
c.844G>A (p.Asp282Asn)
c.*335G>A (n.*335G>A)
c.817G>A (p.Asp273Asn)
dbSNP gnomAD v2 gnomAD v4 COSMIC
11g.128810572G>CCA383238678FLI1c.964G>C (p.Asp322His)
c.943G>C (p.Asp315His)
c.745G>C (p.Asp249His)
c.364G>C (p.Asp122His)
c.*865G>C (n.*865G>C)
n.3526G>C
c.844G>C (p.Asp282His)
c.*335G>C (n.*335G>C)
c.817G>C (p.Asp273His)
11g.128810572G=CA2008248291FLI1c.964G= (p.Asp322=)
c.943G= (p.Asp315=)
c.745G= (p.Asp249=)
c.364G= (p.Asp122=)
c.*865G= (n.*865G=)
n.3526G=
c.844G= (p.Asp282=)
c.*335G= (n.*335G=)
c.817G= (p.Asp273=)
11g.128810572G>TCA383238679FLI1c.964G>T (p.Asp322Tyr)
c.943G>T (p.Asp315Tyr)
c.745G>T (p.Asp249Tyr)
c.364G>T (p.Asp122Tyr)
c.*865G>T (n.*865G>T)
n.3526G>T
c.844G>T (p.Asp282Tyr)
c.*335G>T (n.*335G>T)
c.817G>T (p.Asp273Tyr)
gnomAD v3 gnomAD v4
11g.128810573A>CCA383238680FLI1c.965A>C (p.Asp322Ala)
c.944A>C (p.Asp315Ala)
c.746A>C (p.Asp249Ala)
c.365A>C (p.Asp122Ala)
c.*866A>C (n.*866A>C)
n.3527A>C
c.845A>C (p.Asp282Ala)
c.*336A>C (n.*336A>C)
c.818A>C (p.Asp273Ala)
11g.128810573A>GCA383238681FLI1c.965A>G (p.Asp322Gly)
c.944A>G (p.Asp315Gly)
c.746A>G (p.Asp249Gly)
c.365A>G (p.Asp122Gly)
c.*866A>G (n.*866A>G)
n.3527A>G
c.845A>G (p.Asp282Gly)
c.*336A>G (n.*336A>G)
c.818A>G (p.Asp273Gly)
11g.128810573A>TCA383238682FLI1c.965A>T (p.Asp322Val)
c.944A>T (p.Asp315Val)
c.746A>T (p.Asp249Val)
c.365A>T (p.Asp122Val)
c.*866A>T (n.*866A>T)
n.3527A>T
c.845A>T (p.Asp282Val)
c.*336A>T (n.*336A>T)
c.818A>T (p.Asp273Val)
11g.128810574T>ACA383238683FLI1c.966T>A (p.Asp322Glu)
c.945T>A (p.Asp315Glu)
c.747T>A (p.Asp249Glu)
c.366T>A (p.Asp122Glu)
c.*867T>A (n.*867T>A)
n.3528T>A
c.846T>A (p.Asp282Glu)
c.*337T>A (n.*337T>A)
c.819T>A (p.Asp273Glu)
11g.128810574T>CCA477702493FLI1c.966T>C (p.Asp322=)
c.945T>C (p.Asp315=)
c.747T>C (p.Asp249=)
c.366T>C (p.Asp122=)
c.*867T>C (n.*867T>C)
n.3528T>C
c.846T>C (p.Asp282=)
c.*337T>C (n.*337T>C)
c.819T>C (p.Asp273=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.128810574T>GCA383238684FLI1c.966T>G (p.Asp322Glu)
c.945T>G (p.Asp315Glu)
c.747T>G (p.Asp249Glu)
c.366T>G (p.Asp122Glu)
c.*867T>G (n.*867T>G)
n.3528T>G
c.846T>G (p.Asp282Glu)
c.*337T>G (n.*337T>G)
c.819T>G (p.Asp273Glu)
11g.128810574T=CA2008248294FLI1c.966T= (p.Asp322=)
c.945T= (p.Asp315=)
c.747T= (p.Asp249=)
c.366T= (p.Asp122=)
c.*867T= (n.*867T=)
n.3528T=
c.846T= (p.Asp282=)
c.*337T= (n.*337T=)
c.819T= (p.Asp273=)
11g.128810575G>ACA383238685FLI1c.967G>A (p.Glu323Lys)
c.946G>A (p.Glu316Lys)
c.748G>A (p.Glu250Lys)
c.367G>A (p.Glu123Lys)
c.*868G>A (n.*868G>A)
n.3529G>A
c.847G>A (p.Glu283Lys)
c.*338G>A (n.*338G>A)
c.820G>A (p.Glu274Lys)
11g.128810575G>CCA383238686FLI1c.967G>C (p.Glu323Gln)
c.946G>C (p.Glu316Gln)
c.748G>C (p.Glu250Gln)
c.367G>C (p.Glu123Gln)
c.*868G>C (n.*868G>C)
n.3529G>C
c.847G>C (p.Glu283Gln)
c.*338G>C (n.*338G>C)
c.820G>C (p.Glu274Gln)
11g.128810575G>TCA383238687FLI1c.967G>T (p.Glu323Ter)
c.946G>T (p.Glu316Ter)
c.748G>T (p.Glu250Ter)
c.367G>T (p.Glu123Ter)
c.*868G>T (n.*868G>T)
n.3529G>T
c.847G>T (p.Glu283Ter)
c.*338G>T (n.*338G>T)
c.820G>T (p.Glu274Ter)
ClinVar dbSNP
11g.128810576A>CCA383238690FLI1c.968A>C (p.Glu323Ala)
c.947A>C (p.Glu316Ala)
c.749A>C (p.Glu250Ala)
c.368A>C (p.Glu123Ala)
c.*869A>C (n.*869A>C)
n.3530A>C
c.848A>C (p.Glu283Ala)
c.*339A>C (n.*339A>C)
c.821A>C (p.Glu274Ala)
11g.128810576A>GCA383238689FLI1c.968A>G (p.Glu323Gly)
c.947A>G (p.Glu316Gly)
c.749A>G (p.Glu250Gly)
c.368A>G (p.Glu123Gly)
c.*869A>G (n.*869A>G)
n.3530A>G
c.848A>G (p.Glu283Gly)
c.*339A>G (n.*339A>G)
c.821A>G (p.Glu274Gly)
11g.128810576A>TCA383238688FLI1c.968A>T (p.Glu323Val)
c.947A>T (p.Glu316Val)
c.749A>T (p.Glu250Val)
c.368A>T (p.Glu123Val)
c.*869A>T (n.*869A>T)
n.3530A>T
c.848A>T (p.Glu283Val)
c.*339A>T (n.*339A>T)
c.821A>T (p.Glu274Val)
11g.128810577G>ACA477702499FLI1c.969G>A (p.Glu323=)
c.948G>A (p.Glu316=)
c.750G>A (p.Glu250=)
c.369G>A (p.Glu123=)
c.*870G>A (n.*870G>A)
n.3531G>A
c.849G>A (p.Glu283=)
c.*340G>A (n.*340G>A)
c.822G>A (p.Glu274=)
11g.128810577G>CCA383238691FLI1c.969G>C (p.Glu323Asp)
c.948G>C (p.Glu316Asp)
c.750G>C (p.Glu250Asp)
c.369G>C (p.Glu123Asp)
c.*870G>C (n.*870G>C)
n.3531G>C
c.849G>C (p.Glu283Asp)
c.*340G>C (n.*340G>C)
c.822G>C (p.Glu274Asp)
11g.128810577G>TCA383238692FLI1c.969G>T (p.Glu323Asp)
c.948G>T (p.Glu316Asp)
c.750G>T (p.Glu250Asp)
c.369G>T (p.Glu123Asp)
c.*870G>T (n.*870G>T)
n.3531G>T
c.849G>T (p.Glu283Asp)
c.*340G>T (n.*340G>T)
c.822G>T (p.Glu274Asp)
gnomAD v4
11g.128810578G>ACA383238693FLI1c.970G>A (p.Val324Met)
c.949G>A (p.Val317Met)
c.751G>A (p.Val251Met)
c.370G>A (p.Val124Met)
c.*871G>A (n.*871G>A)
n.3532G>A
c.850G>A (p.Val284Met)
c.*341G>A (n.*341G>A)
c.823G>A (p.Val275Met)
11g.128810578G>CCA383238694FLI1c.970G>C (p.Val324Leu)
c.949G>C (p.Val317Leu)
c.751G>C (p.Val251Leu)
c.370G>C (p.Val124Leu)
c.*871G>C (n.*871G>C)
n.3532G>C
c.850G>C (p.Val284Leu)
c.*341G>C (n.*341G>C)
c.823G>C (p.Val275Leu)
11g.128810578G>TCA383238695FLI1c.970G>T (p.Val324Leu)
c.949G>T (p.Val317Leu)
c.751G>T (p.Val251Leu)
c.370G>T (p.Val124Leu)
c.*871G>T (n.*871G>T)
n.3532G>T
c.850G>T (p.Val284Leu)
c.*341G>T (n.*341G>T)
c.823G>T (p.Val275Leu)
11g.128810579T>ACA383238696FLI1c.971T>A (p.Val324Glu)
c.950T>A (p.Val317Glu)
c.752T>A (p.Val251Glu)
c.371T>A (p.Val124Glu)
c.*872T>A (n.*872T>A)
n.3533T>A
c.851T>A (p.Val284Glu)
c.*342T>A (n.*342T>A)
c.824T>A (p.Val275Glu)
11g.128810579T>CCA383238697FLI1c.971T>C (p.Val324Ala)
c.950T>C (p.Val317Ala)
c.752T>C (p.Val251Ala)
c.371T>C (p.Val124Ala)
c.*872T>C (n.*872T>C)
n.3533T>C
c.851T>C (p.Val284Ala)
c.*342T>C (n.*342T>C)
c.824T>C (p.Val275Ala)
11g.128810579T>GCA383238698FLI1c.971T>G (p.Val324Gly)
c.950T>G (p.Val317Gly)
c.752T>G (p.Val251Gly)
c.371T>G (p.Val124Gly)
c.*872T>G (n.*872T>G)
n.3533T>G
c.851T>G (p.Val284Gly)
c.*342T>G (n.*342T>G)
c.824T>G (p.Val275Gly)
11g.128810580G>ACA477702504FLI1c.972G>A (p.Val324=)
c.951G>A (p.Val317=)
c.753G>A (p.Val251=)
c.372G>A (p.Val124=)
c.*873G>A (n.*873G>A)
n.3534G>A
c.852G>A (p.Val284=)
c.*343G>A (n.*343G>A)
c.825G>A (p.Val275=)
gnomAD v4
11g.128810580G>CCA230604904FLI1c.972G>C (p.Val324=)
c.951G>C (p.Val317=)
c.753G>C (p.Val251=)
c.372G>C (p.Val124=)
c.*873G>C (n.*873G>C)
n.3534G>C
c.852G>C (p.Val284=)
c.*343G>C (n.*343G>C)
c.825G>C (p.Val275=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.128810580G=CA2008248297FLI1c.972G= (p.Val324=)
c.951G= (p.Val317=)
c.753G= (p.Val251=)
c.372G= (p.Val124=)
c.*873G= (n.*873G=)
n.3534G=
c.852G= (p.Val284=)
c.*343G= (n.*343G=)
c.825G= (p.Val275=)
11g.128810580G>TCA477702505FLI1c.972G>T (p.Val324=)
c.951G>T (p.Val317=)
c.753G>T (p.Val251=)
c.372G>T (p.Val124=)
c.*873G>T (n.*873G>T)
n.3534G>T
c.852G>T (p.Val284=)
c.*343G>T (n.*343G>T)
c.825G>T (p.Val275=)
11g.128810581G>ACA383238699FLI1c.973G>A (p.Ala325Thr)
c.952G>A (p.Ala318Thr)
c.754G>A (p.Ala252Thr)
c.373G>A (p.Ala125Thr)
c.*874G>A (n.*874G>A)
n.3535G>A
c.853G>A (p.Ala285Thr)
c.*344G>A (n.*344G>A)
c.826G>A (p.Ala276Thr)
gnomAD v4
11g.128810581G>CCA383238700FLI1c.973G>C (p.Ala325Pro)
c.952G>C (p.Ala318Pro)
c.754G>C (p.Ala252Pro)
c.373G>C (p.Ala125Pro)
c.*874G>C (n.*874G>C)
n.3535G>C
c.853G>C (p.Ala285Pro)
c.*344G>C (n.*344G>C)
c.826G>C (p.Ala276Pro)
11g.128810581G>TCA383238701FLI1c.973G>T (p.Ala325Ser)
c.952G>T (p.Ala318Ser)
c.754G>T (p.Ala252Ser)
c.373G>T (p.Ala125Ser)
c.*874G>T (n.*874G>T)
n.3535G>T
c.853G>T (p.Ala285Ser)
c.*344G>T (n.*344G>T)
c.826G>T (p.Ala276Ser)
11g.128810582C>ACA383238704FLI1c.974C>A (p.Ala325Asp)
c.953C>A (p.Ala318Asp)
c.755C>A (p.Ala252Asp)
c.374C>A (p.Ala125Asp)
c.*875C>A (n.*875C>A)
n.3536C>A
c.854C>A (p.Ala285Asp)
c.*345C>A (n.*345C>A)
c.827C>A (p.Ala276Asp)
11g.128810582C>GCA383238703FLI1c.974C>G (p.Ala325Gly)
c.953C>G (p.Ala318Gly)
c.755C>G (p.Ala252Gly)
c.374C>G (p.Ala125Gly)
c.*875C>G (n.*875C>G)
n.3536C>G
c.854C>G (p.Ala285Gly)
c.*345C>G (n.*345C>G)
c.827C>G (p.Ala276Gly)
11g.128810582C>TCA383238702FLI1c.974C>T (p.Ala325Val)
c.953C>T (p.Ala318Val)
c.755C>T (p.Ala252Val)
c.374C>T (p.Ala125Val)
c.*875C>T (n.*875C>T)
n.3536C>T
c.854C>T (p.Ala285Val)
c.*345C>T (n.*345C>T)
c.827C>T (p.Ala276Val)
11g.128810583C>ACA477702509FLI1c.975C>A (p.Ala325=)
c.954C>A (p.Ala318=)
c.756C>A (p.Ala252=)
c.375C>A (p.Ala125=)
c.*876C>A (n.*876C>A)
n.3537C>A
c.855C>A (p.Ala285=)
c.*346C>A (n.*346C>A)
c.828C>A (p.Ala276=)
11g.128810583C=CA2008248299FLI1c.975C= (p.Ala325=)
c.954C= (p.Ala318=)
c.756C= (p.Ala252=)
c.375C= (p.Ala125=)
c.*876C= (n.*876C=)
n.3537C=
c.855C= (p.Ala285=)
c.*346C= (n.*346C=)
c.828C= (p.Ala276=)
11g.128810583C>GCA477702511FLI1c.975C>G (p.Ala325=)
c.954C>G (p.Ala318=)
c.756C>G (p.Ala252=)
c.375C>G (p.Ala125=)
c.*876C>G (n.*876C>G)
n.3537C>G
c.855C>G (p.Ala285=)
c.*346C>G (n.*346C>G)
c.828C>G (p.Ala276=)
11g.128810583C>TCA477702512FLI1c.975C>T (p.Ala325=)
c.954C>T (p.Ala318=)
c.756C>T (p.Ala252=)
c.375C>T (p.Ala125=)
c.*876C>T (n.*876C>T)
n.3537C>T
c.855C>T (p.Ala285=)
c.*346C>T (n.*346C>T)
c.828C>T (p.Ala276=)
dbSNP
11g.128810584A>CCA477702513FLI1c.976A>C (p.Arg326=)
c.955A>C (p.Arg319=)
c.757A>C (p.Arg253=)
c.376A>C (p.Arg126=)
c.*877A>C (n.*877A>C)
n.3538A>C
c.856A>C (p.Arg286=)
c.*347A>C (n.*347A>C)
c.829A>C (p.Arg277=)
11g.128810584A>GCA383238705FLI1c.976A>G (p.Arg326Gly)
c.955A>G (p.Arg319Gly)
c.757A>G (p.Arg253Gly)
c.376A>G (p.Arg126Gly)
c.*877A>G (n.*877A>G)
n.3538A>G
c.856A>G (p.Arg286Gly)
c.*347A>G (n.*347A>G)
c.829A>G (p.Arg277Gly)
11g.128810584A>TCA383238706FLI1c.976A>T (p.Arg326Trp)
c.955A>T (p.Arg319Trp)
c.757A>T (p.Arg253Trp)
c.376A>T (p.Arg126Trp)
c.*877A>T (n.*877A>T)
n.3538A>T
c.856A>T (p.Arg286Trp)
c.*347A>T (n.*347A>T)
c.829A>T (p.Arg277Trp)
11g.128810585G>ACA383238707FLI1c.977G>A (p.Arg326Lys)
c.956G>A (p.Arg319Lys)
c.758G>A (p.Arg253Lys)
c.377G>A (p.Arg126Lys)
c.*878G>A (n.*878G>A)
n.3539G>A
c.857G>A (p.Arg286Lys)
c.*348G>A (n.*348G>A)
c.830G>A (p.Arg277Lys)
11g.128810585G>CCA383238708FLI1c.977G>C (p.Arg326Thr)
c.956G>C (p.Arg319Thr)
c.758G>C (p.Arg253Thr)
c.377G>C (p.Arg126Thr)
c.*878G>C (n.*878G>C)
n.3539G>C
c.857G>C (p.Arg286Thr)
c.*348G>C (n.*348G>C)
c.830G>C (p.Arg277Thr)
11g.128810585G>TCA383238709FLI1c.977G>T (p.Arg326Met)
c.956G>T (p.Arg319Met)
c.758G>T (p.Arg253Met)
c.377G>T (p.Arg126Met)
c.*878G>T (n.*878G>T)
n.3539G>T
c.857G>T (p.Arg286Met)
c.*348G>T (n.*348G>T)
c.830G>T (p.Arg277Met)
11g.128810586G>ACA477702516FLI1c.978G>A (p.Arg326=)
c.957G>A (p.Arg319=)
c.759G>A (p.Arg253=)
c.378G>A (p.Arg126=)
c.*879G>A (n.*879G>A)
n.3540G>A
c.858G>A (p.Arg286=)
c.*349G>A (n.*349G>A)
c.831G>A (p.Arg277=)
gnomAD v4
11g.128810586G>CCA383238710FLI1c.978G>C (p.Arg326Ser)
c.957G>C (p.Arg319Ser)
c.759G>C (p.Arg253Ser)
c.378G>C (p.Arg126Ser)
c.*879G>C (n.*879G>C)
n.3540G>C
c.858G>C (p.Arg286Ser)
c.*349G>C (n.*349G>C)
c.831G>C (p.Arg277Ser)
11g.128810586G>TCA383238711FLI1c.978G>T (p.Arg326Ser)
c.957G>T (p.Arg319Ser)
c.759G>T (p.Arg253Ser)
c.378G>T (p.Arg126Ser)
c.*879G>T (n.*879G>T)
n.3540G>T
c.858G>T (p.Arg286Ser)
c.*349G>T (n.*349G>T)
c.831G>T (p.Arg277Ser)
11g.128810587C>ACA383238712FLI1c.979C>A (p.Arg327Ser)
c.958C>A (p.Arg320Ser)
c.760C>A (p.Arg254Ser)
c.379C>A (p.Arg127Ser)
c.*880C>A (n.*880C>A)
n.3541C>A
c.859C>A (p.Arg287Ser)
c.*350C>A (n.*350C>A)
c.832C>A (p.Arg278Ser)
dbSNP
11g.128810587C=CA2008248304FLI1c.979C= (p.Arg327=)
c.958C= (p.Arg320=)
c.760C= (p.Arg254=)
c.379C= (p.Arg127=)
c.*880C= (n.*880C=)
n.3541C=
c.859C= (p.Arg287=)
c.*350C= (n.*350C=)
c.832C= (p.Arg278=)
11g.128810587C>GCA383238713FLI1c.979C>G (p.Arg327Gly)
c.958C>G (p.Arg320Gly)
c.760C>G (p.Arg254Gly)
c.379C>G (p.Arg127Gly)
c.*880C>G (n.*880C>G)
n.3541C>G
c.859C>G (p.Arg287Gly)
c.*350C>G (n.*350C>G)
c.832C>G (p.Arg278Gly)
11g.128810587C>TCA383238714FLI1c.979C>T (p.Arg327Cys)
c.958C>T (p.Arg320Cys)
c.760C>T (p.Arg254Cys)
c.379C>T (p.Arg127Cys)
c.*880C>T (n.*880C>T)
n.3541C>T
c.859C>T (p.Arg287Cys)
c.*350C>T (n.*350C>T)
c.832C>T (p.Arg278Cys)
gnomAD v4 COSMIC COSMIC
11g.128810588G>ACA383238715FLI1c.980G>A (p.Arg327His)
c.959G>A (p.Arg320His)
c.761G>A (p.Arg254His)
c.380G>A (p.Arg127His)
c.*881G>A (n.*881G>A)
n.3542G>A
c.860G>A (p.Arg287His)
c.*351G>A (n.*351G>A)
c.833G>A (p.Arg278His)
11g.128810588G>CCA383238716FLI1c.980G>C (p.Arg327Pro)
c.959G>C (p.Arg320Pro)
c.761G>C (p.Arg254Pro)
c.380G>C (p.Arg127Pro)
c.*881G>C (n.*881G>C)
n.3542G>C
c.860G>C (p.Arg287Pro)
c.*351G>C (n.*351G>C)
c.833G>C (p.Arg278Pro)
11g.128810588G>TCA383238717FLI1c.980G>T (p.Arg327Leu)
c.959G>T (p.Arg320Leu)
c.761G>T (p.Arg254Leu)
c.380G>T (p.Arg127Leu)
c.*881G>T (n.*881G>T)
n.3542G>T
c.860G>T (p.Arg287Leu)
c.*351G>T (n.*351G>T)
c.833G>T (p.Arg278Leu)
11g.128810589C>ACA477702522FLI1c.981C>A (p.Arg327=)
c.960C>A (p.Arg320=)
c.762C>A (p.Arg254=)
c.381C>A (p.Arg127=)
c.*882C>A (n.*882C>A)
n.3543C>A
c.861C>A (p.Arg287=)
c.*352C>A (n.*352C>A)
c.834C>A (p.Arg278=)
11g.128810589C>GCA477702523FLI1c.981C>G (p.Arg327=)
c.960C>G (p.Arg320=)
c.762C>G (p.Arg254=)
c.381C>G (p.Arg127=)
c.*882C>G (n.*882C>G)
n.3543C>G
c.861C>G (p.Arg287=)
c.*352C>G (n.*352C>G)
c.834C>G (p.Arg278=)
gnomAD v3 gnomAD v4
11g.128810589C>TCA477702524FLI1c.981C>T (p.Arg327=)
c.960C>T (p.Arg320=)
c.762C>T (p.Arg254=)
c.381C>T (p.Arg127=)
c.*882C>T (n.*882C>T)
n.3543C>T
c.861C>T (p.Arg287=)
c.*352C>T (n.*352C>T)
c.834C>T (p.Arg278=)
11g.128810590T>ACA383238720FLI1c.982T>A (p.Trp328Arg)
c.961T>A (p.Trp321Arg)
c.763T>A (p.Trp255Arg)
c.382T>A (p.Trp128Arg)
c.*883T>A (n.*883T>A)
n.3544T>A
c.862T>A (p.Trp288Arg)
c.*353T>A (n.*353T>A)
c.835T>A (p.Trp279Arg)
11g.128810590T>CCA383238719FLI1c.982T>C (p.Trp328Arg)
c.961T>C (p.Trp321Arg)
c.763T>C (p.Trp255Arg)
c.382T>C (p.Trp128Arg)
c.*883T>C (n.*883T>C)
n.3544T>C
c.862T>C (p.Trp288Arg)
c.*353T>C (n.*353T>C)
c.835T>C (p.Trp279Arg)
11g.128810590T>GCA383238718FLI1c.982T>G (p.Trp328Gly)
c.961T>G (p.Trp321Gly)
c.763T>G (p.Trp255Gly)
c.382T>G (p.Trp128Gly)
c.*883T>G (n.*883T>G)
n.3544T>G
c.862T>G (p.Trp288Gly)
c.*353T>G (n.*353T>G)
c.835T>G (p.Trp279Gly)
11g.128810591G>ACA383238723FLI1c.983G>A (p.Trp328Ter)
c.962G>A (p.Trp321Ter)
c.764G>A (p.Trp255Ter)
c.383G>A (p.Trp128Ter)
c.*884G>A (n.*884G>A)
n.3545G>A
c.863G>A (p.Trp288Ter)
c.*354G>A (n.*354G>A)
c.836G>A (p.Trp279Ter)
11g.128810591G>CCA383238721FLI1c.983G>C (p.Trp328Ser)
c.962G>C (p.Trp321Ser)
c.764G>C (p.Trp255Ser)
c.383G>C (p.Trp128Ser)
c.*884G>C (n.*884G>C)
n.3545G>C
c.863G>C (p.Trp288Ser)
c.*354G>C (n.*354G>C)
c.836G>C (p.Trp279Ser)
11g.128810591G>TCA383238722FLI1c.983G>T (p.Trp328Leu)
c.962G>T (p.Trp321Leu)
c.764G>T (p.Trp255Leu)
c.383G>T (p.Trp128Leu)
c.*884G>T (n.*884G>T)
n.3545G>T
c.863G>T (p.Trp288Leu)
c.*354G>T (n.*354G>T)
c.836G>T (p.Trp279Leu)
11g.128810592G>ACA383238724FLI1c.984G>A (p.Trp328Ter)
c.963G>A (p.Trp321Ter)
c.765G>A (p.Trp255Ter)
c.384G>A (p.Trp128Ter)
c.*885G>A (n.*885G>A)
n.3546G>A
c.864G>A (p.Trp288Ter)
c.*355G>A (n.*355G>A)
c.837G>A (p.Trp279Ter)
dbSNP gnomAD v2
11g.128810592G>CCA383238725FLI1c.984G>C (p.Trp328Cys)
c.963G>C (p.Trp321Cys)
c.765G>C (p.Trp255Cys)
c.384G>C (p.Trp128Cys)
c.*885G>C (n.*885G>C)
n.3546G>C
c.864G>C (p.Trp288Cys)
c.*355G>C (n.*355G>C)
c.837G>C (p.Trp279Cys)
11g.128810592G=CA2008248306FLI1c.984G= (p.Trp328=)
c.963G= (p.Trp321=)
c.765G= (p.Trp255=)
c.384G= (p.Trp128=)
c.*885G= (n.*885G=)
n.3546G=
c.864G= (p.Trp288=)
c.*355G= (n.*355G=)
c.837G= (p.Trp279=)
11g.128810592G>TCA383238726FLI1c.984G>T (p.Trp328Cys)
c.963G>T (p.Trp321Cys)
c.765G>T (p.Trp255Cys)
c.384G>T (p.Trp128Cys)
c.*885G>T (n.*885G>T)
n.3546G>T
c.864G>T (p.Trp288Cys)
c.*355G>T (n.*355G>T)
c.837G>T (p.Trp279Cys)
11g.128810593G>ACA383238727FLI1c.985G>A (p.Gly329Ser)
c.964G>A (p.Gly322Ser)
c.766G>A (p.Gly256Ser)
c.385G>A (p.Gly129Ser)
c.*886G>A (n.*886G>A)
n.3547G>A
c.865G>A (p.Gly289Ser)
c.*356G>A (n.*356G>A)
c.838G>A (p.Gly280Ser)
COSMIC COSMIC
11g.128810593G>CCA383238728FLI1c.985G>C (p.Gly329Arg)
c.964G>C (p.Gly322Arg)
c.766G>C (p.Gly256Arg)
c.385G>C (p.Gly129Arg)
c.*886G>C (n.*886G>C)
n.3547G>C
c.865G>C (p.Gly289Arg)
c.*356G>C (n.*356G>C)
c.838G>C (p.Gly280Arg)
11g.128810593G>TCA383238729FLI1c.985G>T (p.Gly329Cys)
c.964G>T (p.Gly322Cys)
c.766G>T (p.Gly256Cys)
c.385G>T (p.Gly129Cys)
c.*886G>T (n.*886G>T)
n.3547G>T
c.865G>T (p.Gly289Cys)
c.*356G>T (n.*356G>T)
c.838G>T (p.Gly280Cys)
11g.128810594G>ACA383238730FLI1c.986G>A (p.Gly329Asp)
c.965G>A (p.Gly322Asp)
c.767G>A (p.Gly256Asp)
c.386G>A (p.Gly129Asp)
c.*887G>A (n.*887G>A)
n.3548G>A
c.866G>A (p.Gly289Asp)
c.*357G>A (n.*357G>A)
c.839G>A (p.Gly280Asp)
COSMIC COSMIC
11g.128810594G>CCA383238732FLI1c.986G>C (p.Gly329Ala)
c.965G>C (p.Gly322Ala)
c.767G>C (p.Gly256Ala)
c.386G>C (p.Gly129Ala)
c.*887G>C (n.*887G>C)
n.3548G>C
c.866G>C (p.Gly289Ala)
c.*357G>C (n.*357G>C)
c.839G>C (p.Gly280Ala)
11g.128810594G>TCA383238731FLI1c.986G>T (p.Gly329Val)
c.965G>T (p.Gly322Val)
c.767G>T (p.Gly256Val)
c.386G>T (p.Gly129Val)
c.*887G>T (n.*887G>T)
n.3548G>T
c.866G>T (p.Gly289Val)
c.*357G>T (n.*357G>T)
c.839G>T (p.Gly280Val)
11g.128810595C>ACA477702528FLI1c.987C>A (p.Gly329=)
c.966C>A (p.Gly322=)
c.768C>A (p.Gly256=)
c.387C>A (p.Gly129=)
c.*888C>A (n.*888C>A)
n.3549C>A
c.867C>A (p.Gly289=)
c.*358C>A (n.*358C>A)
c.840C>A (p.Gly280=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.128810595C=CA2008248307FLI1c.987C= (p.Gly329=)
c.966C= (p.Gly322=)
c.768C= (p.Gly256=)
c.387C= (p.Gly129=)
c.*888C= (n.*888C=)
n.3549C=
c.867C= (p.Gly289=)
c.*358C= (n.*358C=)
c.840C= (p.Gly280=)
11g.128810595C>GCA477702529FLI1c.987C>G (p.Gly329=)
c.966C>G (p.Gly322=)
c.768C>G (p.Gly256=)
c.387C>G (p.Gly129=)
c.*888C>G (n.*888C>G)
n.3549C>G
c.867C>G (p.Gly289=)
c.*358C>G (n.*358C>G)
c.840C>G (p.Gly280=)
dbSNP
11g.128810595C>TCA6357293FLI1c.987C>T (p.Gly329=)
c.966C>T (p.Gly322=)
c.768C>T (p.Gly256=)
c.387C>T (p.Gly129=)
c.*888C>T (n.*888C>T)
n.3549C>T
c.867C>T (p.Gly289=)
c.*358C>T (n.*358C>T)
c.840C>T (p.Gly280=)
dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
11g.128810596G>ACA6357294FLI1c.988G>A (p.Glu330Lys)
c.967G>A (p.Glu323Lys)
c.769G>A (p.Glu257Lys)
c.388G>A (p.Glu130Lys)
c.*889G>A (n.*889G>A)
n.3550G>A
c.868G>A (p.Glu290Lys)
c.*359G>A (n.*359G>A)
c.841G>A (p.Glu281Lys)
dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
11g.128810596G>CCA383238733FLI1c.988G>C (p.Glu330Gln)
c.967G>C (p.Glu323Gln)
c.769G>C (p.Glu257Gln)
c.388G>C (p.Glu130Gln)
c.*889G>C (n.*889G>C)
n.3550G>C
c.868G>C (p.Glu290Gln)
c.*359G>C (n.*359G>C)
c.841G>C (p.Glu281Gln)
11g.128810596G=CA2008248311FLI1c.988G= (p.Glu330=)
c.967G= (p.Glu323=)
c.769G= (p.Glu257=)
c.388G= (p.Glu130=)
c.*889G= (n.*889G=)
n.3550G=
c.868G= (p.Glu290=)
c.*359G= (n.*359G=)
c.841G= (p.Glu281=)
11g.128810596G>TCA383238734FLI1c.988G>T (p.Glu330Ter)
c.967G>T (p.Glu323Ter)
c.769G>T (p.Glu257Ter)
c.388G>T (p.Glu130Ter)
c.*889G>T (n.*889G>T)
n.3550G>T
c.868G>T (p.Glu290Ter)
c.*359G>T (n.*359G>T)
c.841G>T (p.Glu281Ter)
11g.128810597A=CA2008248319FLI1c.989A= (p.Glu330=)
c.968A= (p.Glu323=)
c.770A= (p.Glu257=)
c.389A= (p.Glu130=)
c.*890A= (n.*890A=)
n.3551A=
c.869A= (p.Glu290=)
c.*360A= (n.*360A=)
c.842A= (p.Glu281=)
11g.128810597A>CCA383238735FLI1c.989A>C (p.Glu330Ala)
c.968A>C (p.Glu323Ala)
c.770A>C (p.Glu257Ala)
c.389A>C (p.Glu130Ala)
c.*890A>C (n.*890A>C)
n.3551A>C
c.869A>C (p.Glu290Ala)
c.*360A>C (n.*360A>C)
c.842A>C (p.Glu281Ala)
11g.128810597A>GCA383238737FLI1c.989A>G (p.Glu330Gly)
c.968A>G (p.Glu323Gly)
c.770A>G (p.Glu257Gly)
c.389A>G (p.Glu130Gly)
c.*890A>G (n.*890A>G)
n.3551A>G
c.869A>G (p.Glu290Gly)
c.*360A>G (n.*360A>G)
c.842A>G (p.Glu281Gly)
11g.128810597A>TCA383238736FLI1c.989A>T (p.Glu330Val)
c.968A>T (p.Glu323Val)
c.770A>T (p.Glu257Val)
c.389A>T (p.Glu130Val)
c.*890A>T (n.*890A>T)
n.3551A>T
c.869A>T (p.Glu290Val)
c.*360A>T (n.*360A>T)
c.842A>T (p.Glu281Val)
dbSNP
11g.128810598G>ACA6357295FLI1c.990G>A (p.Glu330=)
c.969G>A (p.Glu323=)
c.771G>A (p.Glu257=)
c.390G>A (p.Glu130=)
c.*891G>A (n.*891G>A)
n.3552G>A
c.870G>A (p.Glu290=)
c.*361G>A (n.*361G>A)
c.843G>A (p.Glu281=)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.128810598G>CCA383238738FLI1c.990G>C (p.Glu330Asp)
c.969G>C (p.Glu323Asp)
c.771G>C (p.Glu257Asp)
c.390G>C (p.Glu130Asp)
c.*891G>C (n.*891G>C)
n.3552G>C
c.870G>C (p.Glu290Asp)
c.*361G>C (n.*361G>C)
c.843G>C (p.Glu281Asp)
11g.128810598G=CA2008248323FLI1c.990G= (p.Glu330=)
c.969G= (p.Glu323=)
c.771G= (p.Glu257=)
c.390G= (p.Glu130=)
c.*891G= (n.*891G=)
n.3552G=
c.870G= (p.Glu290=)
c.*361G= (n.*361G=)
c.843G= (p.Glu281=)
11g.128810598G>TCA383238739FLI1c.990G>T (p.Glu330Asp)
c.969G>T (p.Glu323Asp)
c.771G>T (p.Glu257Asp)
c.390G>T (p.Glu130Asp)
c.*891G>T (n.*891G>T)
n.3552G>T
c.870G>T (p.Glu290Asp)
c.*361G>T (n.*361G>T)
c.843G>T (p.Glu281Asp)
11g.128810599C>ACA6357296FLI1c.991C>A (p.Arg331=)
c.970C>A (p.Arg324=)
c.772C>A (p.Arg258=)
c.391C>A (p.Arg131=)
c.*892C>A (n.*892C>A)
n.3553C>A
c.871C>A (p.Arg291=)
c.*362C>A (n.*362C>A)
c.844C>A (p.Arg282=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.128810599C=CA2008248335FLI1c.991C= (p.Arg331=)
c.970C= (p.Arg324=)
c.772C= (p.Arg258=)
c.391C= (p.Arg131=)
c.*892C= (n.*892C=)
n.3553C=
c.871C= (p.Arg291=)
c.*362C= (n.*362C=)
c.844C= (p.Arg282=)
11g.128810599C>GCA383238740FLI1c.991C>G (p.Arg331Gly)
c.970C>G (p.Arg324Gly)
c.772C>G (p.Arg258Gly)
c.391C>G (p.Arg131Gly)
c.*892C>G (n.*892C>G)
n.3553C>G
c.871C>G (p.Arg291Gly)
c.*362C>G (n.*362C>G)
c.844C>G (p.Arg282Gly)
gnomAD v4
11g.128810599C>TCA210013FLI1c.991C>T (p.Arg331Trp)
c.970C>T (p.Arg324Trp)
c.772C>T (p.Arg258Trp)
c.391C>T (p.Arg131Trp)
c.*892C>T (n.*892C>T)
n.3553C>T
c.871C>T (p.Arg291Trp)
c.*362C>T (n.*362C>T)
c.844C>T (p.Arg282Trp)
ClinVar dbSNP gnomAD v3 gnomAD v4
11g.128810600G>ACA6357297FLI1c.992G>A (p.Arg331Gln)
c.971G>A (p.Arg324Gln)
c.773G>A (p.Arg258Gln)
c.392G>A (p.Arg131Gln)
c.*893G>A (n.*893G>A)
n.3554G>A
c.872G>A (p.Arg291Gln)
c.*363G>A (n.*363G>A)
c.845G>A (p.Arg282Gln)
dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
11g.128810600G>CCA383238741FLI1c.992G>C (p.Arg331Pro)
c.971G>C (p.Arg324Pro)
c.773G>C (p.Arg258Pro)
c.392G>C (p.Arg131Pro)
c.*893G>C (n.*893G>C)
n.3554G>C
c.872G>C (p.Arg291Pro)
c.*363G>C (n.*363G>C)
c.845G>C (p.Arg282Pro)
11g.128810600G=CA2008248340FLI1c.992G= (p.Arg331=)
c.971G= (p.Arg324=)
c.773G= (p.Arg258=)
c.392G= (p.Arg131=)
c.*893G= (n.*893G=)
n.3554G=
c.872G= (p.Arg291=)
c.*363G= (n.*363G=)
c.845G= (p.Arg282=)
11g.128810600G>TCA383238742FLI1c.992G>T (p.Arg331Leu)
c.971G>T (p.Arg324Leu)
c.773G>T (p.Arg258Leu)
c.392G>T (p.Arg131Leu)
c.*893G>T (n.*893G>T)
n.3554G>T
c.872G>T (p.Arg291Leu)
c.*363G>T (n.*363G>T)
c.845G>T (p.Arg282Leu)
11g.128810601G>ACA477702534FLI1c.993G>A (p.Arg331=)
c.972G>A (p.Arg324=)
c.774G>A (p.Arg258=)
c.393G>A (p.Arg131=)
c.*894G>A (n.*894G>A)
n.3555G>A
c.873G>A (p.Arg291=)
c.*364G>A (n.*364G>A)
c.846G>A (p.Arg282=)
11g.128810601G>CCA477702535FLI1c.993G>C (p.Arg331=)
c.972G>C (p.Arg324=)
c.774G>C (p.Arg258=)
c.393G>C (p.Arg131=)
c.*894G>C (n.*894G>C)
n.3555G>C
c.873G>C (p.Arg291=)
c.*364G>C (n.*364G>C)
c.846G>C (p.Arg282=)
gnomAD v3 gnomAD v4
11g.128810601G>TCA477702536FLI1c.993G>T (p.Arg331=)
c.972G>T (p.Arg324=)
c.774G>T (p.Arg258=)
c.393G>T (p.Arg131=)
c.*894G>T (n.*894G>T)
n.3555G>T
c.873G>T (p.Arg291=)
c.*364G>T (n.*364G>T)
c.846G>T (p.Arg282=)
11g.128810602A>CCA383238743FLI1c.994A>C (p.Lys332Gln)
c.973A>C (p.Lys325Gln)
c.775A>C (p.Lys259Gln)
c.394A>C (p.Lys132Gln)
c.*895A>C (n.*895A>C)
n.3556A>C
c.874A>C (p.Lys292Gln)
c.*365A>C (n.*365A>C)
c.847A>C (p.Lys283Gln)
11g.128810602A>GCA383238744FLI1c.994A>G (p.Lys332Glu)
c.973A>G (p.Lys325Glu)
c.775A>G (p.Lys259Glu)
c.394A>G (p.Lys132Glu)
c.*895A>G (n.*895A>G)
n.3556A>G
c.874A>G (p.Lys292Glu)
c.*365A>G (n.*365A>G)
c.847A>G (p.Lys283Glu)
11g.128810602A>TCA383238745FLI1c.994A>T (p.Lys332Ter)
c.973A>T (p.Lys325Ter)
c.775A>T (p.Lys259Ter)
c.394A>T (p.Lys132Ter)
c.*895A>T (n.*895A>T)
n.3556A>T
c.874A>T (p.Lys292Ter)
c.*365A>T (n.*365A>T)
c.847A>T (p.Lys283Ter)
11g.128810603A>CCA383238746FLI1c.995A>C (p.Lys332Thr)
c.974A>C (p.Lys325Thr)
c.776A>C (p.Lys259Thr)
c.395A>C (p.Lys132Thr)
c.*896A>C (n.*896A>C)
n.3557A>C
c.875A>C (p.Lys292Thr)
c.*366A>C (n.*366A>C)
c.848A>C (p.Lys283Thr)
11g.128810603A>GCA383238748FLI1c.995A>G (p.Lys332Arg)
c.974A>G (p.Lys325Arg)
c.776A>G (p.Lys259Arg)
c.395A>G (p.Lys132Arg)
c.*896A>G (n.*896A>G)
n.3557A>G
c.875A>G (p.Lys292Arg)
c.*366A>G (n.*366A>G)
c.848A>G (p.Lys283Arg)
11g.128810603A>TCA383238747FLI1c.995A>T (p.Lys332Ile)
c.974A>T (p.Lys325Ile)
c.776A>T (p.Lys259Ile)
c.395A>T (p.Lys132Ile)
c.*896A>T (n.*896A>T)
n.3557A>T
c.875A>T (p.Lys292Ile)
c.*366A>T (n.*366A>T)
c.848A>T (p.Lys283Ile)
11g.128810604A>CCA383238749FLI1c.996A>C (p.Lys332Asn)
c.975A>C (p.Lys325Asn)
c.777A>C (p.Lys259Asn)
c.396A>C (p.Lys132Asn)
c.*897A>C (n.*897A>C)
n.3558A>C
c.876A>C (p.Lys292Asn)
c.*367A>C (n.*367A>C)
c.849A>C (p.Lys283Asn)
11g.128810604A>GCA477702597FLI1c.996A>G (p.Lys332=)
c.975A>G (p.Lys325=)
c.777A>G (p.Lys259=)
c.396A>G (p.Lys132=)
c.*897A>G (n.*897A>G)
n.3558A>G
c.876A>G (p.Lys292=)
c.*367A>G (n.*367A>G)
c.849A>G (p.Lys283=)
gnomAD v3 gnomAD v4
11g.128810604A>TCA383238750FLI1c.996A>T (p.Lys332Asn)
c.975A>T (p.Lys325Asn)
c.777A>T (p.Lys259Asn)
c.396A>T (p.Lys132Asn)
c.*897A>T (n.*897A>T)
n.3558A>T
c.876A>T (p.Lys292Asn)
c.*367A>T (n.*367A>T)
c.849A>T (p.Lys283Asn)
11g.128810605A=CA2008248350FLI1c.997A= (p.Ser333=)
c.976A= (p.Ser326=)
c.778A= (p.Ser260=)
c.397A= (p.Ser133=)
c.*898A= (n.*898A=)
n.3559A=
c.877A= (p.Ser293=)
c.*368A= (n.*368A=)
c.850A= (p.Ser284=)
11g.128810605A>CCA383238751FLI1c.997A>C (p.Ser333Arg)
c.976A>C (p.Ser326Arg)
c.778A>C (p.Ser260Arg)
c.397A>C (p.Ser133Arg)
c.*898A>C (n.*898A>C)
n.3559A>C
c.877A>C (p.Ser293Arg)
c.*368A>C (n.*368A>C)
c.850A>C (p.Ser284Arg)
11g.128810605A>GCA383238752FLI1c.997A>G (p.Ser333Gly)
c.976A>G (p.Ser326Gly)
c.778A>G (p.Ser260Gly)
c.397A>G (p.Ser133Gly)
c.*898A>G (n.*898A>G)
n.3559A>G
c.877A>G (p.Ser293Gly)
c.*368A>G (n.*368A>G)
c.850A>G (p.Ser284Gly)
dbSNP gnomAD v4
11g.128810605A>TCA383238753FLI1c.997A>T (p.Ser333Cys)
c.976A>T (p.Ser326Cys)
c.778A>T (p.Ser260Cys)
c.397A>T (p.Ser133Cys)
c.*898A>T (n.*898A>T)
n.3559A>T
c.877A>T (p.Ser293Cys)
c.*368A>T (n.*368A>T)
c.850A>T (p.Ser284Cys)
11g.128810606G>ACA6357298FLI1c.998G>A (p.Ser333Asn)
c.977G>A (p.Ser326Asn)
c.779G>A (p.Ser260Asn)
c.398G>A (p.Ser133Asn)
c.*899G>A (n.*899G>A)
n.3560G>A
c.878G>A (p.Ser293Asn)
c.*369G>A (n.*369G>A)
c.851G>A (p.Ser284Asn)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.128810606G>CCA383238754FLI1c.998G>C (p.Ser333Thr)
c.977G>C (p.Ser326Thr)
c.779G>C (p.Ser260Thr)
c.398G>C (p.Ser133Thr)
c.*899G>C (n.*899G>C)
n.3560G>C
c.878G>C (p.Ser293Thr)
c.*369G>C (n.*369G>C)
c.851G>C (p.Ser284Thr)
11g.128810606G=CA2008248353FLI1c.998G= (p.Ser333=)
c.977G= (p.Ser326=)
c.779G= (p.Ser260=)
c.398G= (p.Ser133=)
c.*899G= (n.*899G=)
n.3560G=
c.878G= (p.Ser293=)
c.*369G= (n.*369G=)
c.851G= (p.Ser284=)
11g.128810606G>TCA383238755FLI1c.998G>T (p.Ser333Ile)
c.977G>T (p.Ser326Ile)
c.779G>T (p.Ser260Ile)
c.398G>T (p.Ser133Ile)
c.*899G>T (n.*899G>T)
n.3560G>T
c.878G>T (p.Ser293Ile)
c.*369G>T (n.*369G>T)
c.851G>T (p.Ser284Ile)
11g.128810607C>ACA383238756FLI1c.999C>A (p.Ser333Arg)
c.978C>A (p.Ser326Arg)
c.780C>A (p.Ser260Arg)
c.399C>A (p.Ser133Arg)
c.*900C>A (n.*900C>A)
n.3561C>A
c.879C>A (p.Ser293Arg)
c.*370C>A (n.*370C>A)
c.852C>A (p.Ser284Arg)
11g.128810607C>GCA383238757FLI1c.999C>G (p.Ser333Arg)
c.978C>G (p.Ser326Arg)
c.780C>G (p.Ser260Arg)
c.399C>G (p.Ser133Arg)
c.*900C>G (n.*900C>G)
n.3561C>G
c.879C>G (p.Ser293Arg)
c.*370C>G (n.*370C>G)
c.852C>G (p.Ser284Arg)
11g.128810607C>TCA477702598FLI1c.999C>T (p.Ser333=)
c.978C>T (p.Ser326=)
c.780C>T (p.Ser260=)
c.399C>T (p.Ser133=)
c.*900C>T (n.*900C>T)
n.3561C>T
c.879C>T (p.Ser293=)
c.*370C>T (n.*370C>T)
c.852C>T (p.Ser284=)
11g.128810608A>CCA383238758FLI1c.1000A>C (p.Lys334Gln)
c.979A>C (p.Lys327Gln)
c.781A>C (p.Lys261Gln)
c.400A>C (p.Lys134Gln)
c.*901A>C (n.*901A>C)
n.3562A>C
c.880A>C (p.Lys294Gln)
c.*371A>C (n.*371A>C)
c.853A>C (p.Lys285Gln)
11g.128810608A>GCA383238759FLI1c.1000A>G (p.Lys334Glu)
c.979A>G (p.Lys327Glu)
c.781A>G (p.Lys261Glu)
c.400A>G (p.Lys134Glu)
c.*901A>G (n.*901A>G)
n.3562A>G
c.880A>G (p.Lys294Glu)
c.*371A>G (n.*371A>G)
c.853A>G (p.Lys285Glu)
11g.128810608A>TCA383238760FLI1c.1000A>T (p.Lys334Ter)
c.979A>T (p.Lys327Ter)
c.781A>T (p.Lys261Ter)
c.400A>T (p.Lys134Ter)
c.*901A>T (n.*901A>T)
n.3562A>T
c.880A>T (p.Lys294Ter)
c.*371A>T (n.*371A>T)
c.853A>T (p.Lys285Ter)
11g.128810609A>CCA383238761FLI1c.1001A>C (p.Lys334Thr)
c.980A>C (p.Lys327Thr)
c.782A>C (p.Lys261Thr)
c.401A>C (p.Lys134Thr)
c.*902A>C (n.*902A>C)
n.3563A>C
c.881A>C (p.Lys294Thr)
c.*372A>C (n.*372A>C)
c.854A>C (p.Lys285Thr)
COSMIC
11g.128810609A>GCA383238763FLI1c.1001A>G (p.Lys334Arg)
c.980A>G (p.Lys327Arg)
c.782A>G (p.Lys261Arg)
c.401A>G (p.Lys134Arg)
c.*902A>G (n.*902A>G)
n.3563A>G
c.881A>G (p.Lys294Arg)
c.*372A>G (n.*372A>G)
c.854A>G (p.Lys285Arg)
11g.128810609A>TCA383238762FLI1c.1001A>T (p.Lys334Met)
c.980A>T (p.Lys327Met)
c.782A>T (p.Lys261Met)
c.401A>T (p.Lys134Met)
c.*902A>T (n.*902A>T)
n.3563A>T
c.881A>T (p.Lys294Met)
c.*372A>T (n.*372A>T)
c.854A>T (p.Lys285Met)
11g.128810610G>ACA477702599FLI1c.1002G>A (p.Lys334=)
c.981G>A (p.Lys327=)
c.783G>A (p.Lys261=)
c.402G>A (p.Lys134=)
c.*903G>A (n.*903G>A)
n.3564G>A
c.882G>A (p.Lys294=)
c.*373G>A (n.*373G>A)
c.855G>A (p.Lys285=)
gnomAD v3 gnomAD v4
11g.128810610G>CCA383238764FLI1c.1002G>C (p.Lys334Asn)
c.981G>C (p.Lys327Asn)
c.783G>C (p.Lys261Asn)
c.402G>C (p.Lys134Asn)
c.*903G>C (n.*903G>C)
n.3564G>C
c.882G>C (p.Lys294Asn)
c.*373G>C (n.*373G>C)
c.855G>C (p.Lys285Asn)
11g.128810610G>TCA383238765FLI1c.1002G>T (p.Lys334Asn)
c.981G>T (p.Lys327Asn)
c.783G>T (p.Lys261Asn)
c.402G>T (p.Lys134Asn)
c.*903G>T (n.*903G>T)
n.3564G>T
c.882G>T (p.Lys294Asn)
c.*373G>T (n.*373G>T)
c.855G>T (p.Lys285Asn)
11g.128810611C>ACA383238766FLI1c.1003C>A (p.Pro335Thr)
c.982C>A (p.Pro328Thr)
c.784C>A (p.Pro262Thr)
c.403C>A (p.Pro135Thr)
c.*904C>A (n.*904C>A)
n.3565C>A
c.883C>A (p.Pro295Thr)
c.*374C>A (n.*374C>A)
c.856C>A (p.Pro286Thr)
11g.128810611C>GCA383238767FLI1c.1003C>G (p.Pro335Ala)
c.982C>G (p.Pro328Ala)
c.784C>G (p.Pro262Ala)
c.403C>G (p.Pro135Ala)
c.*904C>G (n.*904C>G)
n.3565C>G
c.883C>G (p.Pro295Ala)
c.*374C>G (n.*374C>G)
c.856C>G (p.Pro286Ala)
11g.128810611C>TCA383238768FLI1c.1003C>T (p.Pro335Ser)
c.982C>T (p.Pro328Ser)
c.784C>T (p.Pro262Ser)
c.403C>T (p.Pro135Ser)
c.*904C>T (n.*904C>T)
n.3565C>T
c.883C>T (p.Pro295Ser)
c.*374C>T (n.*374C>T)
c.856C>T (p.Pro286Ser)
11g.128810612C>ACA383238769FLI1c.1004C>A (p.Pro335His)
c.983C>A (p.Pro328His)
c.785C>A (p.Pro262His)
c.404C>A (p.Pro135His)
c.*905C>A (n.*905C>A)
n.3566C>A
c.884C>A (p.Pro295His)
c.*375C>A (n.*375C>A)
c.857C>A (p.Pro286His)
11g.128810612C>GCA383238770FLI1c.1004C>G (p.Pro335Arg)
c.983C>G (p.Pro328Arg)
c.785C>G (p.Pro262Arg)
c.404C>G (p.Pro135Arg)
c.*905C>G (n.*905C>G)
n.3566C>G
c.884C>G (p.Pro295Arg)
c.*375C>G (n.*375C>G)
c.857C>G (p.Pro286Arg)
11g.128810612C>TCA383238771FLI1c.1004C>T (p.Pro335Leu)
c.983C>T (p.Pro328Leu)
c.785C>T (p.Pro262Leu)
c.404C>T (p.Pro135Leu)
c.*905C>T (n.*905C>T)
n.3566C>T
c.884C>T (p.Pro295Leu)
c.*375C>T (n.*375C>T)
c.857C>T (p.Pro286Leu)
11g.128810613C>ACA477702600FLI1c.1005C>A (p.Pro335=)
c.984C>A (p.Pro328=)
c.786C>A (p.Pro262=)
c.405C>A (p.Pro135=)
c.*906C>A (n.*906C>A)
n.3567C>A
c.885C>A (p.Pro295=)
c.*376C>A (n.*376C>A)
c.858C>A (p.Pro286=)
11g.128810613C=CA2008248356FLI1c.1005C= (p.Pro335=)
c.984C= (p.Pro328=)
c.786C= (p.Pro262=)
c.405C= (p.Pro135=)
c.*906C= (n.*906C=)
n.3567C=
c.885C= (p.Pro295=)
c.*376C= (n.*376C=)
c.858C= (p.Pro286=)
11g.128810613C>GCA477702601FLI1c.1005C>G (p.Pro335=)
c.984C>G (p.Pro328=)
c.786C>G (p.Pro262=)
c.405C>G (p.Pro135=)
c.*906C>G (n.*906C>G)
n.3567C>G
c.885C>G (p.Pro295=)
c.*376C>G (n.*376C>G)
c.858C>G (p.Pro286=)
11g.128810613C>TCA477702602FLI1c.1005C>T (p.Pro335=)
c.984C>T (p.Pro328=)
c.786C>T (p.Pro262=)
c.405C>T (p.Pro135=)
c.*906C>T (n.*906C>T)
n.3567C>T
c.885C>T (p.Pro295=)
c.*376C>T (n.*376C>T)
c.858C>T (p.Pro286=)
dbSNP
11g.128810614A>CCA383238772FLI1c.1006A>C (p.Asn336His)
c.985A>C (p.Asn329His)
c.787A>C (p.Asn263His)
c.406A>C (p.Asn136His)
c.*907A>C (n.*907A>C)
n.3568A>C
c.886A>C (p.Asn296His)
c.*377A>C (n.*377A>C)
c.859A>C (p.Asn287His)
11g.128810614A>GCA383238773FLI1c.1006A>G (p.Asn336Asp)
c.985A>G (p.Asn329Asp)
c.787A>G (p.Asn263Asp)
c.406A>G (p.Asn136Asp)
c.*907A>G (n.*907A>G)
n.3568A>G
c.886A>G (p.Asn296Asp)
c.*377A>G (n.*377A>G)
c.859A>G (p.Asn287Asp)
11g.128810614A>TCA383238774FLI1c.1006A>T (p.Asn336Tyr)
c.985A>T (p.Asn329Tyr)
c.787A>T (p.Asn263Tyr)
c.406A>T (p.Asn136Tyr)
c.*907A>T (n.*907A>T)
n.3568A>T
c.886A>T (p.Asn296Tyr)
c.*377A>T (n.*377A>T)
c.859A>T (p.Asn287Tyr)

Number of alleles fetched