Chr Mutation (hg38) CAid Gene Transcript Linkouts
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)
11g.128810615A>CCA383238776FLI1c.1007A>C (p.Asn336Thr)
c.986A>C (p.Asn329Thr)
c.788A>C (p.Asn263Thr)
c.407A>C (p.Asn136Thr)
c.*908A>C (n.*908A>C)
n.3569A>C
c.887A>C (p.Asn296Thr)
c.*378A>C (n.*378A>C)
c.860A>C (p.Asn287Thr)
11g.128810615A>GCA383238777FLI1c.1007A>G (p.Asn336Ser)
c.986A>G (p.Asn329Ser)
c.788A>G (p.Asn263Ser)
c.407A>G (p.Asn136Ser)
c.*908A>G (n.*908A>G)
n.3569A>G
c.887A>G (p.Asn296Ser)
c.*378A>G (n.*378A>G)
c.860A>G (p.Asn287Ser)
gnomAD v4
11g.128810615A>TCA383238775FLI1c.1007A>T (p.Asn336Ile)
c.986A>T (p.Asn329Ile)
c.788A>T (p.Asn263Ile)
c.407A>T (p.Asn136Ile)
c.*908A>T (n.*908A>T)
n.3569A>T
c.887A>T (p.Asn296Ile)
c.*378A>T (n.*378A>T)
c.860A>T (p.Asn287Ile)
11g.128810616C>ACA383238778FLI1c.1008C>A (p.Asn336Lys)
c.987C>A (p.Asn329Lys)
c.789C>A (p.Asn263Lys)
c.408C>A (p.Asn136Lys)
c.*909C>A (n.*909C>A)
n.3570C>A
c.888C>A (p.Asn296Lys)
c.*379C>A (n.*379C>A)
c.861C>A (p.Asn287Lys)
11g.128810616C=CA2008248358FLI1c.1008C= (p.Asn336=)
c.987C= (p.Asn329=)
c.789C= (p.Asn263=)
c.408C= (p.Asn136=)
c.*909C= (n.*909C=)
n.3570C=
c.888C= (p.Asn296=)
c.*379C= (n.*379C=)
c.861C= (p.Asn287=)
11g.128810616C>GCA383238779FLI1c.1008C>G (p.Asn336Lys)
c.987C>G (p.Asn329Lys)
c.789C>G (p.Asn263Lys)
c.408C>G (p.Asn136Lys)
c.*909C>G (n.*909C>G)
n.3570C>G
c.888C>G (p.Asn296Lys)
c.*379C>G (n.*379C>G)
c.861C>G (p.Asn287Lys)
11g.128810616C>TCA477702603FLI1c.1008C>T (p.Asn336=)
c.987C>T (p.Asn329=)
c.789C>T (p.Asn263=)
c.408C>T (p.Asn136=)
c.*909C>T (n.*909C>T)
n.3570C>T
c.888C>T (p.Asn296=)
c.*379C>T (n.*379C>T)
c.861C>T (p.Asn287=)
dbSNP gnomAD v4
11g.128810617A>CCA383238780FLI1c.1009A>C (p.Met337Leu)
c.988A>C (p.Met330Leu)
c.790A>C (p.Met264Leu)
c.409A>C (p.Met137Leu)
c.*910A>C (n.*910A>C)
n.3571A>C
c.889A>C (p.Met297Leu)
c.*380A>C (n.*380A>C)
c.862A>C (p.Met288Leu)
11g.128810617A>GCA383238782FLI1c.1009A>G (p.Met337Val)
c.988A>G (p.Met330Val)
c.790A>G (p.Met264Val)
c.409A>G (p.Met137Val)
c.*910A>G (n.*910A>G)
n.3571A>G
c.889A>G (p.Met297Val)
c.*380A>G (n.*380A>G)
c.862A>G (p.Met288Val)
11g.128810617A>TCA383238781FLI1c.1009A>T (p.Met337Leu)
c.988A>T (p.Met330Leu)
c.790A>T (p.Met264Leu)
c.409A>T (p.Met137Leu)
c.*910A>T (n.*910A>T)
n.3571A>T
c.889A>T (p.Met297Leu)
c.*380A>T (n.*380A>T)
c.862A>T (p.Met288Leu)
11g.128810618T>ACA383238783FLI1c.1010T>A (p.Met337Lys)
c.989T>A (p.Met330Lys)
c.791T>A (p.Met264Lys)
c.410T>A (p.Met137Lys)
c.*911T>A (n.*911T>A)
n.3572T>A
c.890T>A (p.Met297Lys)
c.*381T>A (n.*381T>A)
c.863T>A (p.Met288Lys)
11g.128810618T>CCA383238784FLI1c.1010T>C (p.Met337Thr)
c.989T>C (p.Met330Thr)
c.791T>C (p.Met264Thr)
c.410T>C (p.Met137Thr)
c.*911T>C (n.*911T>C)
n.3572T>C
c.890T>C (p.Met297Thr)
c.*381T>C (n.*381T>C)
c.863T>C (p.Met288Thr)
11g.128810618T>GCA383238785FLI1c.1010T>G (p.Met337Arg)
c.989T>G (p.Met330Arg)
c.791T>G (p.Met264Arg)
c.410T>G (p.Met137Arg)
c.*911T>G (n.*911T>G)
n.3572T>G
c.890T>G (p.Met297Arg)
c.*381T>G (n.*381T>G)
c.863T>G (p.Met288Arg)
11g.128810619G>ACA383238786FLI1c.1011G>A (p.Met337Ile)
c.990G>A (p.Met330Ile)
c.792G>A (p.Met264Ile)
c.411G>A (p.Met137Ile)
c.*912G>A (n.*912G>A)
n.3573G>A
c.891G>A (p.Met297Ile)
c.*382G>A (n.*382G>A)
c.864G>A (p.Met288Ile)
11g.128810619G>CCA383238787FLI1c.1011G>C (p.Met337Ile)
c.990G>C (p.Met330Ile)
c.792G>C (p.Met264Ile)
c.411G>C (p.Met137Ile)
c.*912G>C (n.*912G>C)
n.3573G>C
c.891G>C (p.Met297Ile)
c.*382G>C (n.*382G>C)
c.864G>C (p.Met288Ile)
11g.128810619G>TCA383238788FLI1c.1011G>T (p.Met337Ile)
c.990G>T (p.Met330Ile)
c.792G>T (p.Met264Ile)
c.411G>T (p.Met137Ile)
c.*912G>T (n.*912G>T)
n.3573G>T
c.891G>T (p.Met297Ile)
c.*382G>T (n.*382G>T)
c.864G>T (p.Met288Ile)
11g.128810619_128810623delinsGAATTCA2008248362FLI1c.1011_1015delinsGAATT (p.Met337=)
c.990_994delinsGAATT (p.Met330=)
c.792_796delinsGAATT (p.Met264=)
c.411_415delinsGAATT (p.Met137=)
c.*912_*916delinsGAATT (n.*912_*916delinsGAATT)
n.3573_3577delinsGAATT
c.891_895delinsGAATT (p.Met297=)
c.*382_*386delinsGAATT (n.*382_*386delinsGAATT)
c.864_868delinsGAATT (p.Met288=)
11g.128810620A>CCA383238789FLI1c.1012A>C (p.Asn338His)
c.991A>C (p.Asn331His)
c.793A>C (p.Asn265His)
c.412A>C (p.Asn138His)
c.*913A>C (n.*913A>C)
n.3574A>C
c.892A>C (p.Asn298His)
c.*383A>C (n.*383A>C)
c.865A>C (p.Asn289His)
11g.128810620A>GCA383238790FLI1c.1012A>G (p.Asn338Asp)
c.991A>G (p.Asn331Asp)
c.793A>G (p.Asn265Asp)
c.412A>G (p.Asn138Asp)
c.*913A>G (n.*913A>G)
n.3574A>G
c.892A>G (p.Asn298Asp)
c.*383A>G (n.*383A>G)
c.865A>G (p.Asn289Asp)
11g.128810620A>TCA383238791FLI1c.1012A>T (p.Asn338Tyr)
c.991A>T (p.Asn331Tyr)
c.793A>T (p.Asn265Tyr)
c.412A>T (p.Asn138Tyr)
c.*913A>T (n.*913A>T)
n.3574A>T
c.892A>T (p.Asn298Tyr)
c.*383A>T (n.*383A>T)
c.865A>T (p.Asn289Tyr)
11g.128810621_128810624delCA16621535FLI1c.1013_1016del (p.Asn338ThrfsTer4)
c.992_995del (p.Asn331ThrfsTer4)
c.794_797del (p.Asn265ThrfsTer4)
c.413_416del (p.Asn138ThrfsTer4)
c.*914_*917del (n.*914_*917del)
n.3575_3578del
c.893_896del (p.Asn298ThrfsTer4)
c.*384_*387del (n.*384_*387del)
c.866_869del (p.Asn289ThrfsTer4)
ClinVar dbSNP
11g.128810621A=CA2008248373FLI1c.1013A= (p.Asn338=)
c.992A= (p.Asn331=)
c.794A= (p.Asn265=)
c.413A= (p.Asn138=)
c.*914A= (n.*914A=)
n.3575A=
c.893A= (p.Asn298=)
c.*384A= (n.*384A=)
c.866A= (p.Asn289=)
11g.128810621A>CCA383238792FLI1c.1013A>C (p.Asn338Thr)
c.992A>C (p.Asn331Thr)
c.794A>C (p.Asn265Thr)
c.413A>C (p.Asn138Thr)
c.*914A>C (n.*914A>C)
n.3575A>C
c.893A>C (p.Asn298Thr)
c.*384A>C (n.*384A>C)
c.866A>C (p.Asn289Thr)
11g.128810621A>GCA383238793FLI1c.1013A>G (p.Asn338Ser)
c.992A>G (p.Asn331Ser)
c.794A>G (p.Asn265Ser)
c.413A>G (p.Asn138Ser)
c.*914A>G (n.*914A>G)
n.3575A>G
c.893A>G (p.Asn298Ser)
c.*384A>G (n.*384A>G)
c.866A>G (p.Asn289Ser)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.128810621A>TCA383238794FLI1c.1013A>T (p.Asn338Ile)
c.992A>T (p.Asn331Ile)
c.794A>T (p.Asn265Ile)
c.413A>T (p.Asn138Ile)
c.*914A>T (n.*914A>T)
n.3575A>T
c.893A>T (p.Asn298Ile)
c.*384A>T (n.*384A>T)
c.866A>T (p.Asn289Ile)
11g.128810622T>ACA383238796FLI1c.1014T>A (p.Asn338Lys)
c.993T>A (p.Asn331Lys)
c.795T>A (p.Asn265Lys)
c.414T>A (p.Asn138Lys)
c.*915T>A (n.*915T>A)
n.3576T>A
c.894T>A (p.Asn298Lys)
c.*385T>A (n.*385T>A)
c.867T>A (p.Asn289Lys)
11g.128810622T>CCA477702604FLI1c.1014T>C (p.Asn338=)
c.993T>C (p.Asn331=)
c.795T>C (p.Asn265=)
c.414T>C (p.Asn138=)
c.*915T>C (n.*915T>C)
n.3576T>C
c.894T>C (p.Asn298=)
c.*385T>C (n.*385T>C)
c.867T>C (p.Asn289=)
11g.128810622T>GCA383238795FLI1c.1014T>G (p.Asn338Lys)
c.993T>G (p.Asn331Lys)
c.795T>G (p.Asn265Lys)
c.414T>G (p.Asn138Lys)
c.*915T>G (n.*915T>G)
n.3576T>G
c.894T>G (p.Asn298Lys)
c.*385T>G (n.*385T>G)
c.867T>G (p.Asn289Lys)
11g.128810623T>ACA383238797FLI1c.1015T>A (p.Tyr339Asn)
c.994T>A (p.Tyr332Asn)
c.796T>A (p.Tyr266Asn)
c.415T>A (p.Tyr139Asn)
c.*916T>A (n.*916T>A)
n.3577T>A
c.895T>A (p.Tyr299Asn)
c.*386T>A (n.*386T>A)
c.868T>A (p.Tyr290Asn)
11g.128810623T>CCA383238798FLI1c.1015T>C (p.Tyr339His)
c.994T>C (p.Tyr332His)
c.796T>C (p.Tyr266His)
c.415T>C (p.Tyr139His)
c.*916T>C (n.*916T>C)
n.3577T>C
c.895T>C (p.Tyr299His)
c.*386T>C (n.*386T>C)
c.868T>C (p.Tyr290His)
11g.128810623T>GCA383238799FLI1c.1015T>G (p.Tyr339Asp)
c.994T>G (p.Tyr332Asp)
c.796T>G (p.Tyr266Asp)
c.415T>G (p.Tyr139Asp)
c.*916T>G (n.*916T>G)
n.3577T>G
c.895T>G (p.Tyr299Asp)
c.*386T>G (n.*386T>G)
c.868T>G (p.Tyr290Asp)
11g.128810624A>CCA383238800FLI1c.1016A>C (p.Tyr339Ser)
c.995A>C (p.Tyr332Ser)
c.797A>C (p.Tyr266Ser)
c.416A>C (p.Tyr139Ser)
c.*917A>C (n.*917A>C)
n.3578A>C
c.896A>C (p.Tyr299Ser)
c.*387A>C (n.*387A>C)
c.869A>C (p.Tyr290Ser)
11g.128810624A>GCA383238801FLI1c.1016A>G (p.Tyr339Cys)
c.995A>G (p.Tyr332Cys)
c.797A>G (p.Tyr266Cys)
c.416A>G (p.Tyr139Cys)
c.*917A>G (n.*917A>G)
n.3578A>G
c.896A>G (p.Tyr299Cys)
c.*387A>G (n.*387A>G)
c.869A>G (p.Tyr290Cys)
11g.128810624A>TCA383238802FLI1c.1016A>T (p.Tyr339Phe)
c.995A>T (p.Tyr332Phe)
c.797A>T (p.Tyr266Phe)
c.416A>T (p.Tyr139Phe)
c.*917A>T (n.*917A>T)
n.3578A>T
c.896A>T (p.Tyr299Phe)
c.*387A>T (n.*387A>T)
c.869A>T (p.Tyr290Phe)
11g.128810625C>ACA383238803FLI1c.1017C>A (p.Tyr339Ter)
c.996C>A (p.Tyr332Ter)
c.798C>A (p.Tyr266Ter)
c.417C>A (p.Tyr139Ter)
c.*918C>A (n.*918C>A)
n.3579C>A
c.897C>A (p.Tyr299Ter)
c.*388C>A (n.*388C>A)
c.870C>A (p.Tyr290Ter)
11g.128810625C=CA2008248381FLI1c.1017C= (p.Tyr339=)
c.996C= (p.Tyr332=)
c.798C= (p.Tyr266=)
c.417C= (p.Tyr139=)
c.*918C= (n.*918C=)
n.3579C=
c.897C= (p.Tyr299=)
c.*388C= (n.*388C=)
c.870C= (p.Tyr290=)
11g.128810625C>GCA383238804FLI1c.1017C>G (p.Tyr339Ter)
c.996C>G (p.Tyr332Ter)
c.798C>G (p.Tyr266Ter)
c.417C>G (p.Tyr139Ter)
c.*918C>G (n.*918C>G)
n.3579C>G
c.897C>G (p.Tyr299Ter)
c.*388C>G (n.*388C>G)
c.870C>G (p.Tyr290Ter)
11g.128810625C>TCA6357299FLI1c.1017C>T (p.Tyr339=)
c.996C>T (p.Tyr332=)
c.798C>T (p.Tyr266=)
c.417C>T (p.Tyr139=)
c.*918C>T (n.*918C>T)
n.3579C>T
c.897C>T (p.Tyr299=)
c.*388C>T (n.*388C>T)
c.870C>T (p.Tyr290=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
11g.128810626G>ACA383238805FLI1c.1018G>A (p.Asp340Asn)
c.997G>A (p.Asp333Asn)
c.799G>A (p.Asp267Asn)
c.418G>A (p.Asp140Asn)
c.*919G>A (n.*919G>A)
n.3580G>A
c.898G>A (p.Asp300Asn)
c.*389G>A (n.*389G>A)
c.871G>A (p.Asp291Asn)
gnomAD v4
11g.128810626G>CCA383238806FLI1c.1018G>C (p.Asp340His)
c.997G>C (p.Asp333His)
c.799G>C (p.Asp267His)
c.418G>C (p.Asp140His)
c.*919G>C (n.*919G>C)
n.3580G>C
c.898G>C (p.Asp300His)
c.*389G>C (n.*389G>C)
c.871G>C (p.Asp291His)
11g.128810626G>TCA383238807FLI1c.1018G>T (p.Asp340Tyr)
c.997G>T (p.Asp333Tyr)
c.799G>T (p.Asp267Tyr)
c.418G>T (p.Asp140Tyr)
c.*919G>T (n.*919G>T)
n.3580G>T
c.898G>T (p.Asp300Tyr)
c.*389G>T (n.*389G>T)
c.871G>T (p.Asp291Tyr)
11g.128810627A=CA2008248390FLI1c.1019A= (p.Asp340=)
c.998A= (p.Asp333=)
c.800A= (p.Asp267=)
c.419A= (p.Asp140=)
c.*920A= (n.*920A=)
n.3581A=
c.899A= (p.Asp300=)
c.*390A= (n.*390A=)
c.872A= (p.Asp291=)
11g.128810627A>CCA383238810FLI1c.1019A>C (p.Asp340Ala)
c.998A>C (p.Asp333Ala)
c.800A>C (p.Asp267Ala)
c.419A>C (p.Asp140Ala)
c.*920A>C (n.*920A>C)
n.3581A>C
c.899A>C (p.Asp300Ala)
c.*390A>C (n.*390A>C)
c.872A>C (p.Asp291Ala)
11g.128810627A>GCA383238809FLI1c.1019A>G (p.Asp340Gly)
c.998A>G (p.Asp333Gly)
c.800A>G (p.Asp267Gly)
c.419A>G (p.Asp140Gly)
c.*920A>G (n.*920A>G)
n.3581A>G
c.899A>G (p.Asp300Gly)
c.*390A>G (n.*390A>G)
c.872A>G (p.Asp291Gly)
dbSNP
11g.128810627A>TCA383238808FLI1c.1019A>T (p.Asp340Val)
c.998A>T (p.Asp333Val)
c.800A>T (p.Asp267Val)
c.419A>T (p.Asp140Val)
c.*920A>T (n.*920A>T)
n.3581A>T
c.899A>T (p.Asp300Val)
c.*390A>T (n.*390A>T)
c.872A>T (p.Asp291Val)
11g.128810628C>ACA383238811FLI1c.1020C>A (p.Asp340Glu)
c.999C>A (p.Asp333Glu)
c.801C>A (p.Asp267Glu)
c.420C>A (p.Asp140Glu)
c.*921C>A (n.*921C>A)
n.3582C>A
c.900C>A (p.Asp300Glu)
c.*391C>A (n.*391C>A)
c.873C>A (p.Asp291Glu)
11g.128810628C>GCA383238812FLI1c.1020C>G (p.Asp340Glu)
c.999C>G (p.Asp333Glu)
c.801C>G (p.Asp267Glu)
c.420C>G (p.Asp140Glu)
c.*921C>G (n.*921C>G)
n.3582C>G
c.900C>G (p.Asp300Glu)
c.*391C>G (n.*391C>G)
c.873C>G (p.Asp291Glu)
COSMIC COSMIC
11g.128810628C>TCA477702605FLI1c.1020C>T (p.Asp340=)
c.999C>T (p.Asp333=)
c.801C>T (p.Asp267=)
c.420C>T (p.Asp140=)
c.*921C>T (n.*921C>T)
n.3582C>T
c.900C>T (p.Asp300=)
c.*391C>T (n.*391C>T)
c.873C>T (p.Asp291=)
11g.128810629A>CCA383238813FLI1c.1021A>C (p.Lys341Gln)
c.1000A>C (p.Lys334Gln)
c.802A>C (p.Lys268Gln)
c.421A>C (p.Lys141Gln)
c.*922A>C (n.*922A>C)
n.3583A>C
c.901A>C (p.Lys301Gln)
c.*392A>C (n.*392A>C)
c.874A>C (p.Lys292Gln)
11g.128810629A>GCA383238814FLI1c.1021A>G (p.Lys341Glu)
c.1000A>G (p.Lys334Glu)
c.802A>G (p.Lys268Glu)
c.421A>G (p.Lys141Glu)
c.*922A>G (n.*922A>G)
n.3583A>G
c.901A>G (p.Lys301Glu)
c.*392A>G (n.*392A>G)
c.874A>G (p.Lys292Glu)
11g.128810629A>TCA383238815FLI1c.1021A>T (p.Lys341Ter)
c.1000A>T (p.Lys334Ter)
c.802A>T (p.Lys268Ter)
c.421A>T (p.Lys141Ter)
c.*922A>T (n.*922A>T)
n.3583A>T
c.901A>T (p.Lys301Ter)
c.*392A>T (n.*392A>T)
c.874A>T (p.Lys292Ter)
11g.128810630A>CCA383238816FLI1c.1022A>C (p.Lys341Thr)
c.1001A>C (p.Lys334Thr)
c.803A>C (p.Lys268Thr)
c.422A>C (p.Lys141Thr)
c.*923A>C (n.*923A>C)
n.3584A>C
c.902A>C (p.Lys301Thr)
c.*393A>C (n.*393A>C)
c.875A>C (p.Lys292Thr)
11g.128810630A>GCA383238817FLI1c.1022A>G (p.Lys341Arg)
c.1001A>G (p.Lys334Arg)
c.803A>G (p.Lys268Arg)
c.422A>G (p.Lys141Arg)
c.*923A>G (n.*923A>G)
n.3584A>G
c.902A>G (p.Lys301Arg)
c.*393A>G (n.*393A>G)
c.875A>G (p.Lys292Arg)
11g.128810630A>TCA383238818FLI1c.1022A>T (p.Lys341Met)
c.1001A>T (p.Lys334Met)
c.803A>T (p.Lys268Met)
c.422A>T (p.Lys141Met)
c.*923A>T (n.*923A>T)
n.3584A>T
c.902A>T (p.Lys301Met)
c.*393A>T (n.*393A>T)
c.875A>T (p.Lys292Met)
11g.128810631G>ACA477702606FLI1c.1023G>A (p.Lys341=)
c.1002G>A (p.Lys334=)
c.804G>A (p.Lys268=)
c.423G>A (p.Lys141=)
c.*924G>A (n.*924G>A)
n.3585G>A
c.903G>A (p.Lys301=)
c.*394G>A (n.*394G>A)
c.876G>A (p.Lys292=)
11g.128810631G>CCA383238819FLI1c.1023G>C (p.Lys341Asn)
c.1002G>C (p.Lys334Asn)
c.804G>C (p.Lys268Asn)
c.423G>C (p.Lys141Asn)
c.*924G>C (n.*924G>C)
n.3585G>C
c.903G>C (p.Lys301Asn)
c.*394G>C (n.*394G>C)
c.876G>C (p.Lys292Asn)
11g.128810631G>TCA383238820FLI1c.1023G>T (p.Lys341Asn)
c.1002G>T (p.Lys334Asn)
c.804G>T (p.Lys268Asn)
c.423G>T (p.Lys141Asn)
c.*924G>T (n.*924G>T)
n.3585G>T
c.903G>T (p.Lys301Asn)
c.*394G>T (n.*394G>T)
c.876G>T (p.Lys292Asn)
11g.128810632C>ACA383238821FLI1c.1024C>A (p.Leu342Met)
c.1003C>A (p.Leu335Met)
c.805C>A (p.Leu269Met)
c.424C>A (p.Leu142Met)
c.*925C>A (n.*925C>A)
n.3586C>A
c.904C>A (p.Leu302Met)
c.*395C>A (n.*395C>A)
c.877C>A (p.Leu293Met)
11g.128810632C>GCA383238822FLI1c.1024C>G (p.Leu342Val)
c.1003C>G (p.Leu335Val)
c.805C>G (p.Leu269Val)
c.424C>G (p.Leu142Val)
c.*925C>G (n.*925C>G)
n.3586C>G
c.904C>G (p.Leu302Val)
c.*395C>G (n.*395C>G)
c.877C>G (p.Leu293Val)
11g.128810632C>TCA477702607FLI1c.1024C>T (p.Leu342=)
c.1003C>T (p.Leu335=)
c.805C>T (p.Leu269=)
c.424C>T (p.Leu142=)
c.*925C>T (n.*925C>T)
n.3586C>T
c.904C>T (p.Leu302=)
c.*395C>T (n.*395C>T)
c.877C>T (p.Leu293=)
11g.128810633T>ACA383238824FLI1c.1025T>A (p.Leu342Gln)
c.1004T>A (p.Leu335Gln)
c.806T>A (p.Leu269Gln)
c.425T>A (p.Leu142Gln)
c.*926T>A (n.*926T>A)
n.3587T>A
c.905T>A (p.Leu302Gln)
c.*396T>A (n.*396T>A)
c.878T>A (p.Leu293Gln)
11g.128810633T>CCA383238825FLI1c.1025T>C (p.Leu342Pro)
c.1004T>C (p.Leu335Pro)
c.806T>C (p.Leu269Pro)
c.425T>C (p.Leu142Pro)
c.*926T>C (n.*926T>C)
n.3587T>C
c.905T>C (p.Leu302Pro)
c.*396T>C (n.*396T>C)
c.878T>C (p.Leu293Pro)
11g.128810633T>GCA383238823FLI1c.1025T>G (p.Leu342Arg)
c.1004T>G (p.Leu335Arg)
c.806T>G (p.Leu269Arg)
c.425T>G (p.Leu142Arg)
c.*926T>G (n.*926T>G)
n.3587T>G
c.905T>G (p.Leu302Arg)
c.*396T>G (n.*396T>G)
c.878T>G (p.Leu293Arg)
11g.128810634G>ACA477702608FLI1c.1026G>A (p.Leu342=)
c.1005G>A (p.Leu335=)
c.807G>A (p.Leu269=)
c.426G>A (p.Leu142=)
c.*927G>A (n.*927G>A)
n.3588G>A
c.906G>A (p.Leu302=)
c.*397G>A (n.*397G>A)
c.879G>A (p.Leu293=)
11g.128810634G>CCA477702609FLI1c.1026G>C (p.Leu342=)
c.1005G>C (p.Leu335=)
c.807G>C (p.Leu269=)
c.426G>C (p.Leu142=)
c.*927G>C (n.*927G>C)
n.3588G>C
c.906G>C (p.Leu302=)
c.*397G>C (n.*397G>C)
c.879G>C (p.Leu293=)
11g.128810634G=CA2008248393FLI1c.1026G= (p.Leu342=)
c.1005G= (p.Leu335=)
c.807G= (p.Leu269=)
c.426G= (p.Leu142=)
c.*927G= (n.*927G=)
n.3588G=
c.906G= (p.Leu302=)
c.*397G= (n.*397G=)
c.879G= (p.Leu293=)
11g.128810634G>TCA6357300FLI1c.1026G>T (p.Leu342=)
c.1005G>T (p.Leu335=)
c.807G>T (p.Leu269=)
c.426G>T (p.Leu142=)
c.*927G>T (n.*927G>T)
n.3588G>T
c.906G>T (p.Leu302=)
c.*397G>T (n.*397G>T)
c.879G>T (p.Leu293=)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.128810635A>CCA383238826FLI1c.1027A>C (p.Ser343Arg)
c.1006A>C (p.Ser336Arg)
c.808A>C (p.Ser270Arg)
c.427A>C (p.Ser143Arg)
c.*928A>C (n.*928A>C)
n.3589A>C
c.907A>C (p.Ser303Arg)
c.*398A>C (n.*398A>C)
c.880A>C (p.Ser294Arg)
11g.128810635A>GCA383238827FLI1c.1027A>G (p.Ser343Gly)
c.1006A>G (p.Ser336Gly)
c.808A>G (p.Ser270Gly)
c.427A>G (p.Ser143Gly)
c.*928A>G (n.*928A>G)
n.3589A>G
c.907A>G (p.Ser303Gly)
c.*398A>G (n.*398A>G)
c.880A>G (p.Ser294Gly)
11g.128810635A>TCA383238828FLI1c.1027A>T (p.Ser343Cys)
c.1006A>T (p.Ser336Cys)
c.808A>T (p.Ser270Cys)
c.427A>T (p.Ser143Cys)
c.*928A>T (n.*928A>T)
n.3589A>T
c.907A>T (p.Ser303Cys)
c.*398A>T (n.*398A>T)
c.880A>T (p.Ser294Cys)
11g.128810636G>ACA383238831FLI1c.1028G>A (p.Ser343Asn)
c.1007G>A (p.Ser336Asn)
c.809G>A (p.Ser270Asn)
c.428G>A (p.Ser143Asn)
c.*929G>A (n.*929G>A)
n.3590G>A
c.908G>A (p.Ser303Asn)
c.*399G>A (n.*399G>A)
c.881G>A (p.Ser294Asn)
11g.128810636G>CCA383238830FLI1c.1028G>C (p.Ser343Thr)
c.1007G>C (p.Ser336Thr)
c.809G>C (p.Ser270Thr)
c.428G>C (p.Ser143Thr)
c.*929G>C (n.*929G>C)
n.3590G>C
c.908G>C (p.Ser303Thr)
c.*399G>C (n.*399G>C)
c.881G>C (p.Ser294Thr)
11g.128810636G>TCA383238829FLI1c.1028G>T (p.Ser343Ile)
c.1007G>T (p.Ser336Ile)
c.809G>T (p.Ser270Ile)
c.428G>T (p.Ser143Ile)
c.*929G>T (n.*929G>T)
n.3590G>T
c.908G>T (p.Ser303Ile)
c.*399G>T (n.*399G>T)
c.881G>T (p.Ser294Ile)
COSMIC
11g.128810637C>ACA383238832FLI1c.1029C>A (p.Ser343Arg)
c.1008C>A (p.Ser336Arg)
c.810C>A (p.Ser270Arg)
c.429C>A (p.Ser143Arg)
c.*930C>A (n.*930C>A)
n.3591C>A
c.909C>A (p.Ser303Arg)
c.*400C>A (n.*400C>A)
c.882C>A (p.Ser294Arg)
11g.128810637C=CA2008248397FLI1c.1029C= (p.Ser343=)
c.1008C= (p.Ser336=)
c.810C= (p.Ser270=)
c.429C= (p.Ser143=)
c.*930C= (n.*930C=)
n.3591C=
c.909C= (p.Ser303=)
c.*400C= (n.*400C=)
c.882C= (p.Ser294=)
11g.128810637C>GCA383238833FLI1c.1029C>G (p.Ser343Arg)
c.1008C>G (p.Ser336Arg)
c.810C>G (p.Ser270Arg)
c.429C>G (p.Ser143Arg)
c.*930C>G (n.*930C>G)
n.3591C>G
c.909C>G (p.Ser303Arg)
c.*400C>G (n.*400C>G)
c.882C>G (p.Ser294Arg)
11g.128810637C>TCA477702610FLI1c.1029C>T (p.Ser343=)
c.1008C>T (p.Ser336=)
c.810C>T (p.Ser270=)
c.429C>T (p.Ser143=)
c.*930C>T (n.*930C>T)
n.3591C>T
c.909C>T (p.Ser303=)
c.*400C>T (n.*400C>T)
c.882C>T (p.Ser294=)
dbSNP gnomAD v4
11g.128810638C>ACA477702611FLI1c.1030C>A (p.Arg344=)
c.1009C>A (p.Arg337=)
c.811C>A (p.Arg271=)
c.430C>A (p.Arg144=)
c.*931C>A (n.*931C>A)
n.3592C>A
c.910C>A (p.Arg304=)
c.*401C>A (n.*401C>A)
c.883C>A (p.Arg295=)
11g.128810638C=CA2008248399FLI1c.1030C= (p.Arg344=)
c.1009C= (p.Arg337=)
c.811C= (p.Arg271=)
c.430C= (p.Arg144=)
c.*931C= (n.*931C=)
n.3592C=
c.910C= (p.Arg304=)
c.*401C= (n.*401C=)
c.883C= (p.Arg295=)
11g.128810638C>GCA383238834FLI1c.1030C>G (p.Arg344Gly)
c.1009C>G (p.Arg337Gly)
c.811C>G (p.Arg271Gly)
c.430C>G (p.Arg144Gly)
c.*931C>G (n.*931C>G)
n.3592C>G
c.910C>G (p.Arg304Gly)
c.*401C>G (n.*401C>G)
c.883C>G (p.Arg295Gly)
11g.128810638C>TCA16621533FLI1c.1030C>T (p.Arg344Trp)
c.1009C>T (p.Arg337Trp)
c.811C>T (p.Arg271Trp)
c.430C>T (p.Arg144Trp)
c.*931C>T (n.*931C>T)
n.3592C>T
c.910C>T (p.Arg304Trp)
c.*401C>T (n.*401C>T)
c.883C>T (p.Arg295Trp)
ClinVar dbSNP
11g.128810639G>ACA16621536FLI1c.1031G>A (p.Arg344Gln)
c.1010G>A (p.Arg337Gln)
c.812G>A (p.Arg271Gln)
c.431G>A (p.Arg144Gln)
c.*932G>A (n.*932G>A)
n.3593G>A
c.911G>A (p.Arg304Gln)
c.*402G>A (n.*402G>A)
c.884G>A (p.Arg295Gln)
ClinVar dbSNP
11g.128810639G>CCA383238835FLI1c.1031G>C (p.Arg344Pro)
c.1010G>C (p.Arg337Pro)
c.812G>C (p.Arg271Pro)
c.431G>C (p.Arg144Pro)
c.*932G>C (n.*932G>C)
n.3593G>C
c.911G>C (p.Arg304Pro)
c.*402G>C (n.*402G>C)
c.884G>C (p.Arg295Pro)
11g.128810639G=CA2008248407FLI1c.1031G= (p.Arg344=)
c.1010G= (p.Arg337=)
c.812G= (p.Arg271=)
c.431G= (p.Arg144=)
c.*932G= (n.*932G=)
n.3593G=
c.911G= (p.Arg304=)
c.*402G= (n.*402G=)
c.884G= (p.Arg295=)
11g.128810639G>TCA383238836FLI1c.1031G>T (p.Arg344Leu)
c.1010G>T (p.Arg337Leu)
c.812G>T (p.Arg271Leu)
c.431G>T (p.Arg144Leu)
c.*932G>T (n.*932G>T)
n.3593G>T
c.911G>T (p.Arg304Leu)
c.*402G>T (n.*402G>T)
c.884G>T (p.Arg295Leu)
11g.128810640G>ACA6357301FLI1c.1032G>A (p.Arg344=)
c.1011G>A (p.Arg337=)
c.813G>A (p.Arg271=)
c.432G>A (p.Arg144=)
c.*933G>A (n.*933G>A)
n.3594G>A
c.912G>A (p.Arg304=)
c.*403G>A (n.*403G>A)
c.885G>A (p.Arg295=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.128810640G>CCA477702613FLI1c.1032G>C (p.Arg344=)
c.1011G>C (p.Arg337=)
c.813G>C (p.Arg271=)
c.432G>C (p.Arg144=)
c.*933G>C (n.*933G>C)
n.3594G>C
c.912G>C (p.Arg304=)
c.*403G>C (n.*403G>C)
c.885G>C (p.Arg295=)
11g.128810640G=CA2008248412FLI1c.1032G= (p.Arg344=)
c.1011G= (p.Arg337=)
c.813G= (p.Arg271=)
c.432G= (p.Arg144=)
c.*933G= (n.*933G=)
n.3594G=
c.912G= (p.Arg304=)
c.*403G= (n.*403G=)
c.885G= (p.Arg295=)
11g.128810640G>TCA477702612FLI1c.1032G>T (p.Arg344=)
c.1011G>T (p.Arg337=)
c.813G>T (p.Arg271=)
c.432G>T (p.Arg144=)
c.*933G>T (n.*933G>T)
n.3594G>T
c.912G>T (p.Arg304=)
c.*403G>T (n.*403G>T)
c.885G>T (p.Arg295=)
11g.128810641G>ACA383238838FLI1c.1033G>A (p.Ala345Thr)
c.1012G>A (p.Ala338Thr)
c.814G>A (p.Ala272Thr)
c.433G>A (p.Ala145Thr)
c.*934G>A (n.*934G>A)
n.3595G>A
c.913G>A (p.Ala305Thr)
c.*404G>A (n.*404G>A)
c.886G>A (p.Ala296Thr)
11g.128810641G>CCA383238837FLI1c.1033G>C (p.Ala345Pro)
c.1012G>C (p.Ala338Pro)
c.814G>C (p.Ala272Pro)
c.433G>C (p.Ala145Pro)
c.*934G>C (n.*934G>C)
n.3595G>C
c.913G>C (p.Ala305Pro)
c.*404G>C (n.*404G>C)
c.886G>C (p.Ala296Pro)
11g.128810641G>TCA383238839FLI1c.1033G>T (p.Ala345Ser)
c.1012G>T (p.Ala338Ser)
c.814G>T (p.Ala272Ser)
c.433G>T (p.Ala145Ser)
c.*934G>T (n.*934G>T)
n.3595G>T
c.913G>T (p.Ala305Ser)
c.*404G>T (n.*404G>T)
c.886G>T (p.Ala296Ser)
COSMIC
11g.128810642C>ACA383238840FLI1c.1034C>A (p.Ala345Asp)
c.1013C>A (p.Ala338Asp)
c.815C>A (p.Ala272Asp)
c.434C>A (p.Ala145Asp)
c.*935C>A (n.*935C>A)
n.3596C>A
c.914C>A (p.Ala305Asp)
c.*405C>A (n.*405C>A)
c.887C>A (p.Ala296Asp)
11g.128810642C>GCA383238841FLI1c.1034C>G (p.Ala345Gly)
c.1013C>G (p.Ala338Gly)
c.815C>G (p.Ala272Gly)
c.434C>G (p.Ala145Gly)
c.*935C>G (n.*935C>G)
n.3596C>G
c.914C>G (p.Ala305Gly)
c.*405C>G (n.*405C>G)
c.887C>G (p.Ala296Gly)
11g.128810642C>TCA383238842FLI1c.1034C>T (p.Ala345Val)
c.1013C>T (p.Ala338Val)
c.815C>T (p.Ala272Val)
c.434C>T (p.Ala145Val)
c.*935C>T (n.*935C>T)
n.3596C>T
c.914C>T (p.Ala305Val)
c.*405C>T (n.*405C>T)
c.887C>T (p.Ala296Val)
11g.128810644delCA912971751FLI1c.1036del (p.Leu346SerfsTer10)
c.1015del (p.Leu339SerfsTer10)
c.817del (p.Leu273SerfsTer10)
c.436del (p.Leu146SerfsTer10)
c.*937del (n.*937del)
n.3598del
c.916del (p.Leu306SerfsTer10)
c.*407del (n.*407del)
c.889del (p.Leu297SerfsTer10)
11g.128810643C>ACA477702616FLI1c.1035C>A (p.Ala345=)
c.1014C>A (p.Ala338=)
c.816C>A (p.Ala272=)
c.435C>A (p.Ala145=)
c.*936C>A (n.*936C>A)
n.3597C>A
c.915C>A (p.Ala305=)
c.*406C>A (n.*406C>A)
c.888C>A (p.Ala296=)
ClinVar dbSNP gnomAD v3 gnomAD v4
11g.128810643C=CA2008248417FLI1c.1035C= (p.Ala345=)
c.1014C= (p.Ala338=)
c.816C= (p.Ala272=)
c.435C= (p.Ala145=)
c.*936C= (n.*936C=)
n.3597C=
c.915C= (p.Ala305=)
c.*406C= (n.*406C=)
c.888C= (p.Ala296=)
11g.128810643C>GCA477702615FLI1c.1035C>G (p.Ala345=)
c.1014C>G (p.Ala338=)
c.816C>G (p.Ala272=)
c.435C>G (p.Ala145=)
c.*936C>G (n.*936C>G)
n.3597C>G
c.915C>G (p.Ala305=)
c.*406C>G (n.*406C>G)
c.888C>G (p.Ala296=)
11g.128810643C>TCA477702614FLI1c.1035C>T (p.Ala345=)
c.1014C>T (p.Ala338=)
c.816C>T (p.Ala272=)
c.435C>T (p.Ala145=)
c.*936C>T (n.*936C>T)
n.3597C>T
c.915C>T (p.Ala305=)
c.*406C>T (n.*406C>T)
c.888C>T (p.Ala296=)
11g.128810644C>ACA383238843FLI1c.1036C>A (p.Leu346Ile)
c.1015C>A (p.Leu339Ile)
c.817C>A (p.Leu273Ile)
c.436C>A (p.Leu146Ile)
c.*937C>A (n.*937C>A)
n.3598C>A
c.916C>A (p.Leu306Ile)
c.*407C>A (n.*407C>A)
c.889C>A (p.Leu297Ile)
gnomAD v4
11g.128810644C>GCA383238844FLI1c.1036C>G (p.Leu346Val)
c.1015C>G (p.Leu339Val)
c.817C>G (p.Leu273Val)
c.436C>G (p.Leu146Val)
c.*937C>G (n.*937C>G)
n.3598C>G
c.916C>G (p.Leu306Val)
c.*407C>G (n.*407C>G)
c.889C>G (p.Leu297Val)
11g.128810644C>TCA383238845FLI1c.1036C>T (p.Leu346Phe)
c.1015C>T (p.Leu339Phe)
c.817C>T (p.Leu273Phe)
c.436C>T (p.Leu146Phe)
c.*937C>T (n.*937C>T)
n.3598C>T
c.916C>T (p.Leu306Phe)
c.*407C>T (n.*407C>T)
c.889C>T (p.Leu297Phe)
gnomAD v4
11g.128810645T>ACA383238846FLI1c.1037T>A (p.Leu346His)
c.1016T>A (p.Leu339His)
c.818T>A (p.Leu273His)
c.437T>A (p.Leu146His)
c.*938T>A (n.*938T>A)
n.3599T>A
c.917T>A (p.Leu306His)
c.*408T>A (n.*408T>A)
c.890T>A (p.Leu297His)
11g.128810645T>CCA383238847FLI1c.1037T>C (p.Leu346Pro)
c.1016T>C (p.Leu339Pro)
c.818T>C (p.Leu273Pro)
c.437T>C (p.Leu146Pro)
c.*938T>C (n.*938T>C)
n.3599T>C
c.917T>C (p.Leu306Pro)
c.*408T>C (n.*408T>C)
c.890T>C (p.Leu297Pro)
11g.128810645T>GCA383238848FLI1c.1037T>G (p.Leu346Arg)
c.1016T>G (p.Leu339Arg)
c.818T>G (p.Leu273Arg)
c.437T>G (p.Leu146Arg)
c.*938T>G (n.*938T>G)
n.3599T>G
c.917T>G (p.Leu306Arg)
c.*408T>G (n.*408T>G)
c.890T>G (p.Leu297Arg)
11g.128810646C>ACA477702617FLI1c.1038C>A (p.Leu346=)
c.1017C>A (p.Leu339=)
c.819C>A (p.Leu273=)
c.438C>A (p.Leu146=)
c.*939C>A (n.*939C>A)
n.3600C>A
c.918C>A (p.Leu306=)
c.*409C>A (n.*409C>A)
c.891C>A (p.Leu297=)
11g.128810646C=CA2008248421FLI1c.1038C= (p.Leu346=)
c.1017C= (p.Leu339=)
c.819C= (p.Leu273=)
c.438C= (p.Leu146=)
c.*939C= (n.*939C=)
n.3600C=
c.918C= (p.Leu306=)
c.*409C= (n.*409C=)
c.891C= (p.Leu297=)
11g.128810646C>GCA477702619FLI1c.1038C>G (p.Leu346=)
c.1017C>G (p.Leu339=)
c.819C>G (p.Leu273=)
c.438C>G (p.Leu146=)
c.*939C>G (n.*939C>G)
n.3600C>G
c.918C>G (p.Leu306=)
c.*409C>G (n.*409C>G)
c.891C>G (p.Leu297=)
11g.128810646C>TCA477702618FLI1c.1038C>T (p.Leu346=)
c.1017C>T (p.Leu339=)
c.819C>T (p.Leu273=)
c.438C>T (p.Leu146=)
c.*939C>T (n.*939C>T)
n.3600C>T
c.918C>T (p.Leu306=)
c.*409C>T (n.*409C>T)
c.891C>T (p.Leu297=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched