Chr Mutation (hg38) CAid Gene Transcript Linkouts
18g.3457651C>ACA401723705TGIF1c.470C>A (p.Thr157Asn)
c.530C>A (p.Thr177Asn)
c.917C>A (p.Thr306Asn)
c.572C>A (p.Thr191Asn)
c.539C>A (p.Thr180Asn)
18g.3457651C=CA2281035619TGIF1c.470C= (p.Thr157=)
c.530C= (p.Thr177=)
c.917C= (p.Thr306=)
c.572C= (p.Thr191=)
c.539C= (p.Thr180=)
18g.3457651C>GCA401723706TGIF1c.470C>G (p.Thr157Ser)
c.530C>G (p.Thr177Ser)
c.917C>G (p.Thr306Ser)
c.572C>G (p.Thr191Ser)
c.539C>G (p.Thr180Ser)
dbSNP gnomAD v3 gnomAD v4
18g.3457651C>TCA401723707TGIF1c.470C>T (p.Thr157Ile)
c.530C>T (p.Thr177Ile)
c.917C>T (p.Thr306Ile)
c.572C>T (p.Thr191Ile)
c.539C>T (p.Thr180Ile)
gnomAD v4
18g.3457652T>ACA502810324TGIF1c.471T>A (p.Thr157=)
c.531T>A (p.Thr177=)
c.918T>A (p.Thr306=)
c.573T>A (p.Thr191=)
c.540T>A (p.Thr180=)
18g.3457652T>CCA502810325TGIF1c.471T>C (p.Thr157=)
c.531T>C (p.Thr177=)
c.918T>C (p.Thr306=)
c.573T>C (p.Thr191=)
c.540T>C (p.Thr180=)
dbSNP gnomAD v3 gnomAD v4
18g.3457652T>GCA502810323TGIF1c.471T>G (p.Thr157=)
c.531T>G (p.Thr177=)
c.918T>G (p.Thr306=)
c.573T>G (p.Thr191=)
c.540T>G (p.Thr180=)
gnomAD v4
18g.3457652T=CA2281035620TGIF1c.471T= (p.Thr157=)
c.531T= (p.Thr177=)
c.918T= (p.Thr306=)
c.573T= (p.Thr191=)
c.540T= (p.Thr180=)
18g.3457653G>ACA401723708TGIF1c.472G>A (p.Val158Met)
c.532G>A (p.Val178Met)
c.919G>A (p.Val307Met)
c.574G>A (p.Val192Met)
c.541G>A (p.Val181Met)
18g.3457653G>CCA401723709TGIF1c.472G>C (p.Val158Leu)
c.532G>C (p.Val178Leu)
c.919G>C (p.Val307Leu)
c.574G>C (p.Val192Leu)
c.541G>C (p.Val181Leu)
18g.3457653G>TCA401723710TGIF1c.472G>T (p.Val158Leu)
c.532G>T (p.Val178Leu)
c.919G>T (p.Val307Leu)
c.574G>T (p.Val192Leu)
c.541G>T (p.Val181Leu)
18g.3457654T>ACA401723711TGIF1c.473T>A (p.Val158Glu)
c.533T>A (p.Val178Glu)
c.920T>A (p.Val307Glu)
c.575T>A (p.Val192Glu)
c.542T>A (p.Val181Glu)
18g.3457654T>CCA295567267TGIF1c.473T>C (p.Val158Ala)
c.533T>C (p.Val178Ala)
c.920T>C (p.Val307Ala)
c.575T>C (p.Val192Ala)
c.542T>C (p.Val181Ala)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.3457654T>GCA401723712TGIF1c.473T>G (p.Val158Gly)
c.533T>G (p.Val178Gly)
c.920T>G (p.Val307Gly)
c.575T>G (p.Val192Gly)
c.542T>G (p.Val181Gly)
18g.3457654T=CA2281035621TGIF1c.473T= (p.Val158=)
c.533T= (p.Val178=)
c.920T= (p.Val307=)
c.575T= (p.Val192=)
c.542T= (p.Val181=)
18g.3457655G>ACA502810327TGIF1c.474G>A (p.Val158=)
c.534G>A (p.Val178=)
c.921G>A (p.Val307=)
c.576G>A (p.Val192=)
c.543G>A (p.Val181=)
18g.3457655G>CCA502810326TGIF1c.474G>C (p.Val158=)
c.534G>C (p.Val178=)
c.921G>C (p.Val307=)
c.576G>C (p.Val192=)
c.543G>C (p.Val181=)
18g.3457655G>TCA502810329TGIF1c.474G>T (p.Val158=)
c.534G>T (p.Val178=)
c.921G>T (p.Val307=)
c.576G>T (p.Val192=)
c.543G>T (p.Val181=)
18g.3457656A>CCA401723713TGIF1c.475A>C (p.Thr159Pro)
c.535A>C (p.Thr179Pro)
c.922A>C (p.Thr308Pro)
c.577A>C (p.Thr193Pro)
c.544A>C (p.Thr182Pro)
18g.3457656A>GCA401723714TGIF1c.475A>G (p.Thr159Ala)
c.535A>G (p.Thr179Ala)
c.922A>G (p.Thr308Ala)
c.577A>G (p.Thr193Ala)
c.544A>G (p.Thr182Ala)
18g.3457656A>TCA401723715TGIF1c.475A>T (p.Thr159Ser)
c.535A>T (p.Thr179Ser)
c.922A>T (p.Thr308Ser)
c.577A>T (p.Thr193Ser)
c.544A>T (p.Thr182Ser)
18g.3457657C>ACA401723716TGIF1c.476C>A (p.Thr159Asn)
c.536C>A (p.Thr179Asn)
c.923C>A (p.Thr308Asn)
c.578C>A (p.Thr193Asn)
c.545C>A (p.Thr182Asn)
18g.3457657C>GCA401723718TGIF1c.476C>G (p.Thr159Ser)
c.536C>G (p.Thr179Ser)
c.923C>G (p.Thr308Ser)
c.578C>G (p.Thr193Ser)
c.545C>G (p.Thr182Ser)
18g.3457657C>TCA401723717TGIF1c.476C>T (p.Thr159Ile)
c.536C>T (p.Thr179Ile)
c.923C>T (p.Thr308Ile)
c.578C>T (p.Thr193Ile)
c.545C>T (p.Thr182Ile)
18g.3457658T>ACA502810332TGIF1c.477T>A (p.Thr159=)
c.537T>A (p.Thr179=)
c.924T>A (p.Thr308=)
c.579T>A (p.Thr193=)
c.546T>A (p.Thr182=)
18g.3457658T>CCA502810333TGIF1c.477T>C (p.Thr159=)
c.537T>C (p.Thr179=)
c.924T>C (p.Thr308=)
c.579T>C (p.Thr193=)
c.546T>C (p.Thr182=)
gnomAD v4
18g.3457658T>GCA502810335TGIF1c.477T>G (p.Thr159=)
c.537T>G (p.Thr179=)
c.924T>G (p.Thr308=)
c.579T>G (p.Thr193=)
c.546T>G (p.Thr182=)
18g.3457659G>ACA401723719TGIF1c.478G>A (p.Ala160Thr)
c.538G>A (p.Ala180Thr)
c.925G>A (p.Ala309Thr)
c.580G>A (p.Ala194Thr)
c.547G>A (p.Ala183Thr)
18g.3457659G>CCA401723720TGIF1c.478G>C (p.Ala160Pro)
c.538G>C (p.Ala180Pro)
c.925G>C (p.Ala309Pro)
c.580G>C (p.Ala194Pro)
c.547G>C (p.Ala183Pro)
dbSNP
18g.3457659G=CA2281035622TGIF1c.478G= (p.Ala160=)
c.538G= (p.Ala180=)
c.925G= (p.Ala309=)
c.580G= (p.Ala194=)
c.547G= (p.Ala183=)
18g.3457659G>TCA401723721TGIF1c.478G>T (p.Ala160Ser)
c.538G>T (p.Ala180Ser)
c.925G>T (p.Ala309Ser)
c.580G>T (p.Ala194Ser)
c.547G>T (p.Ala183Ser)
18g.3457660C>ACA401723722TGIF1c.479C>A (p.Ala160Glu)
c.539C>A (p.Ala180Glu)
c.926C>A (p.Ala309Glu)
c.581C>A (p.Ala194Glu)
c.548C>A (p.Ala183Glu)
18g.3457660C>GCA401723723TGIF1c.479C>G (p.Ala160Gly)
c.539C>G (p.Ala180Gly)
c.926C>G (p.Ala309Gly)
c.581C>G (p.Ala194Gly)
c.548C>G (p.Ala183Gly)
18g.3457660C>TCA401723724TGIF1c.479C>T (p.Ala160Val)
c.539C>T (p.Ala180Val)
c.926C>T (p.Ala309Val)
c.581C>T (p.Ala194Val)
c.548C>T (p.Ala183Val)
gnomAD v4
18g.3457661A=CA2281035623TGIF1c.480A= (p.Ala160=)
c.540A= (p.Ala180=)
c.927A= (p.Ala309=)
c.582A= (p.Ala194=)
c.549A= (p.Ala183=)
18g.3457661A>CCA8875972TGIF1c.480A>C (p.Ala160=)
c.540A>C (p.Ala180=)
c.927A>C (p.Ala309=)
c.582A>C (p.Ala194=)
c.549A>C (p.Ala183=)
dbSNP ExAC gnomAD v2 gnomAD v4
18g.3457661A>GCA502810339TGIF1c.480A>G (p.Ala160=)
c.540A>G (p.Ala180=)
c.927A>G (p.Ala309=)
c.582A>G (p.Ala194=)
c.549A>G (p.Ala183=)
dbSNP gnomAD v2 gnomAD v4
18g.3457661A>TCA502810341TGIF1c.480A>T (p.Ala160=)
c.540A>T (p.Ala180=)
c.927A>T (p.Ala309=)
c.582A>T (p.Ala194=)
c.549A>T (p.Ala183=)
dbSNP gnomAD v3 gnomAD v4
18g.3457662T>ACA401723725TGIF1c.481T>A (p.Leu161Met)
c.541T>A (p.Leu181Met)
c.928T>A (p.Leu310Met)
c.583T>A (p.Leu195Met)
c.550T>A (p.Leu184Met)
18g.3457662T>CCA502810343TGIF1c.481T>C (p.Leu161=)
c.541T>C (p.Leu181=)
c.928T>C (p.Leu310=)
c.583T>C (p.Leu195=)
c.550T>C (p.Leu184=)
dbSNP
18g.3457662T>GCA401723726TGIF1c.481T>G (p.Leu161Val)
c.541T>G (p.Leu181Val)
c.928T>G (p.Leu310Val)
c.583T>G (p.Leu195Val)
c.550T>G (p.Leu184Val)
gnomAD v4
18g.3457662T=CA2281035624TGIF1c.481T= (p.Leu161=)
c.541T= (p.Leu181=)
c.928T= (p.Leu310=)
c.583T= (p.Leu195=)
c.550T= (p.Leu184=)
18g.3457663T>ACA401723727TGIF1c.482T>A (p.Leu161Ter)
c.542T>A (p.Leu181Ter)
c.929T>A (p.Leu310Ter)
c.584T>A (p.Leu195Ter)
c.551T>A (p.Leu184Ter)
18g.3457663T>CCA401723728TGIF1c.482T>C (p.Leu161Ser)
c.542T>C (p.Leu181Ser)
c.929T>C (p.Leu310Ser)
c.584T>C (p.Leu195Ser)
c.551T>C (p.Leu184Ser)
18g.3457663T>GCA401723729TGIF1c.482T>G (p.Leu161Trp)
c.542T>G (p.Leu181Trp)
c.929T>G (p.Leu310Trp)
c.584T>G (p.Leu195Trp)
c.551T>G (p.Leu184Trp)
18g.3457664G>ACA502810344TGIF1c.483G>A (p.Leu161=)
c.543G>A (p.Leu181=)
c.930G>A (p.Leu310=)
c.585G>A (p.Leu195=)
c.552G>A (p.Leu184=)
18g.3457664G>CCA401723730TGIF1c.483G>C (p.Leu161Phe)
c.543G>C (p.Leu181Phe)
c.930G>C (p.Leu310Phe)
c.585G>C (p.Leu195Phe)
c.552G>C (p.Leu184Phe)
18g.3457664G>TCA401723731TGIF1c.483G>T (p.Leu161Phe)
c.543G>T (p.Leu181Phe)
c.930G>T (p.Leu310Phe)
c.585G>T (p.Leu195Phe)
c.552G>T (p.Leu184Phe)
18g.3457665A=CA2281035625TGIF1c.484A= (p.Lys162=)
c.544A= (p.Lys182=)
c.931A= (p.Lys311=)
c.586A= (p.Lys196=)
c.553A= (p.Lys185=)
18g.3457665A>CCA401723734TGIF1c.484A>C (p.Lys162Gln)
c.544A>C (p.Lys182Gln)
c.931A>C (p.Lys311Gln)
c.586A>C (p.Lys196Gln)
c.553A>C (p.Lys185Gln)
18g.3457665A>GCA401723732TGIF1c.484A>G (p.Lys162Glu)
c.544A>G (p.Lys182Glu)
c.931A>G (p.Lys311Glu)
c.586A>G (p.Lys196Glu)
c.553A>G (p.Lys185Glu)
dbSNP
18g.3457665A>TCA401723733TGIF1c.484A>T (p.Lys162Ter)
c.544A>T (p.Lys182Ter)
c.931A>T (p.Lys311Ter)
c.586A>T (p.Lys196Ter)
c.553A>T (p.Lys185Ter)
18g.3457666A>CCA401723735TGIF1c.485A>C (p.Lys162Thr)
c.545A>C (p.Lys182Thr)
c.932A>C (p.Lys311Thr)
c.587A>C (p.Lys196Thr)
c.554A>C (p.Lys185Thr)
18g.3457666A>GCA401723736TGIF1c.485A>G (p.Lys162Arg)
c.545A>G (p.Lys182Arg)
c.932A>G (p.Lys311Arg)
c.587A>G (p.Lys196Arg)
c.554A>G (p.Lys185Arg)
18g.3457666A>TCA401723737TGIF1c.485A>T (p.Lys162Ile)
c.545A>T (p.Lys182Ile)
c.932A>T (p.Lys311Ile)
c.587A>T (p.Lys196Ile)
c.554A>T (p.Lys185Ile)
18g.3457667A>CCA401723738TGIF1c.486A>C (p.Lys162Asn)
c.546A>C (p.Lys182Asn)
c.933A>C (p.Lys311Asn)
c.588A>C (p.Lys196Asn)
c.555A>C (p.Lys185Asn)
18g.3457667A>GCA502810345TGIF1c.486A>G (p.Lys162=)
c.546A>G (p.Lys182=)
c.933A>G (p.Lys311=)
c.588A>G (p.Lys196=)
c.555A>G (p.Lys185=)
gnomAD v4
18g.3457667A>TCA401723739TGIF1c.486A>T (p.Lys162Asn)
c.546A>T (p.Lys182Asn)
c.933A>T (p.Lys311Asn)
c.588A>T (p.Lys196Asn)
c.555A>T (p.Lys185Asn)
18g.3457668G>ACA401723740TGIF1c.487G>A (p.Asp163Asn)
c.547G>A (p.Asp183Asn)
c.934G>A (p.Asp312Asn)
c.589G>A (p.Asp197Asn)
c.556G>A (p.Asp186Asn)
18g.3457668G>CCA401723741TGIF1c.487G>C (p.Asp163His)
c.547G>C (p.Asp183His)
c.934G>C (p.Asp312His)
c.589G>C (p.Asp197His)
c.556G>C (p.Asp186His)
18g.3457668G>TCA401723742TGIF1c.487G>T (p.Asp163Tyr)
c.547G>T (p.Asp183Tyr)
c.934G>T (p.Asp312Tyr)
c.589G>T (p.Asp197Tyr)
c.556G>T (p.Asp186Tyr)
18g.3457669A=CA2281035626TGIF1c.488A= (p.Asp163=)
c.548A= (p.Asp183=)
c.935A= (p.Asp312=)
c.590A= (p.Asp197=)
c.557A= (p.Asp186=)
18g.3457669A>CCA401723743TGIF1c.488A>C (p.Asp163Ala)
c.548A>C (p.Asp183Ala)
c.935A>C (p.Asp312Ala)
c.590A>C (p.Asp197Ala)
c.557A>C (p.Asp186Ala)
18g.3457669A>GCA401723744TGIF1c.488A>G (p.Asp163Gly)
c.548A>G (p.Asp183Gly)
c.935A>G (p.Asp312Gly)
c.590A>G (p.Asp197Gly)
c.557A>G (p.Asp186Gly)
dbSNP gnomAD v3 gnomAD v4
18g.3457669A>TCA401723745TGIF1c.488A>T (p.Asp163Val)
c.548A>T (p.Asp183Val)
c.935A>T (p.Asp312Val)
c.590A>T (p.Asp197Val)
c.557A>T (p.Asp186Val)
18g.3457670T>ACA401723746TGIF1c.489T>A (p.Asp163Glu)
c.549T>A (p.Asp183Glu)
c.936T>A (p.Asp312Glu)
c.591T>A (p.Asp197Glu)
c.558T>A (p.Asp186Glu)
18g.3457670T>CCA502810346TGIF1c.489T>C (p.Asp163=)
c.549T>C (p.Asp183=)
c.936T>C (p.Asp312=)
c.591T>C (p.Asp197=)
c.558T>C (p.Asp186=)
gnomAD v4
18g.3457670T>GCA401723747TGIF1c.489T>G (p.Asp163Glu)
c.549T>G (p.Asp183Glu)
c.936T>G (p.Asp312Glu)
c.591T>G (p.Asp197Glu)
c.558T>G (p.Asp186Glu)
18g.3457671G>ACA401723748TGIF1c.490G>A (p.Val164Ile)
c.550G>A (p.Val184Ile)
c.937G>A (p.Val313Ile)
c.592G>A (p.Val198Ile)
c.559G>A (p.Val187Ile)
18g.3457671G>CCA401723750TGIF1c.490G>C (p.Val164Leu)
c.550G>C (p.Val184Leu)
c.937G>C (p.Val313Leu)
c.592G>C (p.Val198Leu)
c.559G>C (p.Val187Leu)
18g.3457671G>TCA401723749TGIF1c.490G>T (p.Val164Phe)
c.550G>T (p.Val184Phe)
c.937G>T (p.Val313Phe)
c.592G>T (p.Val198Phe)
c.559G>T (p.Val187Phe)
18g.3457672T>ACA401723751TGIF1c.491T>A (p.Val164Asp)
c.551T>A (p.Val184Asp)
c.938T>A (p.Val313Asp)
c.593T>A (p.Val198Asp)
c.560T>A (p.Val187Asp)
18g.3457672T>CCA401723752TGIF1c.491T>C (p.Val164Ala)
c.551T>C (p.Val184Ala)
c.938T>C (p.Val313Ala)
c.593T>C (p.Val198Ala)
c.560T>C (p.Val187Ala)
18g.3457672T>GCA401723753TGIF1c.491T>G (p.Val164Gly)
c.551T>G (p.Val184Gly)
c.938T>G (p.Val313Gly)
c.593T>G (p.Val198Gly)
c.560T>G (p.Val187Gly)
dbSNP gnomAD v2 gnomAD v4
18g.3457672T=CA2281035627TGIF1c.491T= (p.Val164=)
c.551T= (p.Val184=)
c.938T= (p.Val313=)
c.593T= (p.Val198=)
c.560T= (p.Val187=)
18g.3457673C>ACA502810347TGIF1c.492C>A (p.Val164=)
c.552C>A (p.Val184=)
c.939C>A (p.Val313=)
c.594C>A (p.Val198=)
c.561C>A (p.Val187=)
18g.3457673C>GCA502810348TGIF1c.492C>G (p.Val164=)
c.552C>G (p.Val184=)
c.939C>G (p.Val313=)
c.594C>G (p.Val198=)
c.561C>G (p.Val187=)
18g.3457673C>TCA502810349TGIF1c.492C>T (p.Val164=)
c.552C>T (p.Val184=)
c.939C>T (p.Val313=)
c.594C>T (p.Val198=)
c.561C>T (p.Val187=)
18g.3457674C>ACA401723754TGIF1c.493C>A (p.Pro165Thr)
c.553C>A (p.Pro185Thr)
c.940C>A (p.Pro314Thr)
c.595C>A (p.Pro199Thr)
c.562C>A (p.Pro188Thr)
gnomAD v4
18g.3457674C>GCA401723755TGIF1c.493C>G (p.Pro165Ala)
c.553C>G (p.Pro185Ala)
c.940C>G (p.Pro314Ala)
c.595C>G (p.Pro199Ala)
c.562C>G (p.Pro188Ala)
18g.3457674C>TCA401723756TGIF1c.493C>T (p.Pro165Ser)
c.553C>T (p.Pro185Ser)
c.940C>T (p.Pro314Ser)
c.595C>T (p.Pro199Ser)
c.562C>T (p.Pro188Ser)
gnomAD v4
18g.3457675C>ACA401723757TGIF1c.494C>A (p.Pro165His)
c.554C>A (p.Pro185His)
c.941C>A (p.Pro314His)
c.596C>A (p.Pro199His)
c.563C>A (p.Pro188His)
18g.3457675C=CA2281035628TGIF1c.494C= (p.Pro165=)
c.554C= (p.Pro185=)
c.941C= (p.Pro314=)
c.596C= (p.Pro199=)
c.563C= (p.Pro188=)
18g.3457675C>GCA8875973TGIF1c.494C>G (p.Pro165Arg)
c.554C>G (p.Pro185Arg)
c.941C>G (p.Pro314Arg)
c.596C>G (p.Pro199Arg)
c.563C>G (p.Pro188Arg)
dbSNP ExAC gnomAD v2 gnomAD v4
18g.3457675C>TCA401723758TGIF1c.494C>T (p.Pro165Leu)
c.554C>T (p.Pro185Leu)
c.941C>T (p.Pro314Leu)
c.596C>T (p.Pro199Leu)
c.563C>T (p.Pro188Leu)
18g.3457676T>ACA502810351TGIF1c.495T>A (p.Pro165=)
c.555T>A (p.Pro185=)
c.942T>A (p.Pro314=)
c.597T>A (p.Pro199=)
c.564T>A (p.Pro188=)
18g.3457676T>CCA502810353TGIF1c.495T>C (p.Pro165=)
c.555T>C (p.Pro185=)
c.942T>C (p.Pro314=)
c.597T>C (p.Pro199=)
c.564T>C (p.Pro188=)
18g.3457676T>GCA502810350TGIF1c.495T>G (p.Pro165=)
c.555T>G (p.Pro185=)
c.942T>G (p.Pro314=)
c.597T>G (p.Pro199=)
c.564T>G (p.Pro188=)
18g.3457677T>ACA401723759TGIF1c.496T>A (p.Phe166Ile)
c.556T>A (p.Phe186Ile)
c.943T>A (p.Phe315Ile)
c.598T>A (p.Phe200Ile)
c.565T>A (p.Phe189Ile)
18g.3457677T>CCA401723760TGIF1c.496T>C (p.Phe166Leu)
c.556T>C (p.Phe186Leu)
c.943T>C (p.Phe315Leu)
c.598T>C (p.Phe200Leu)
c.565T>C (p.Phe189Leu)
18g.3457677T>GCA401723761TGIF1c.496T>G (p.Phe166Val)
c.556T>G (p.Phe186Val)
c.943T>G (p.Phe315Val)
c.598T>G (p.Phe200Val)
c.565T>G (p.Phe189Val)
18g.3457678T>ACA401723764TGIF1c.497T>A (p.Phe166Tyr)
c.557T>A (p.Phe186Tyr)
c.944T>A (p.Phe315Tyr)
c.599T>A (p.Phe200Tyr)
c.566T>A (p.Phe189Tyr)
18g.3457678T>CCA401723763TGIF1c.497T>C (p.Phe166Ser)
c.557T>C (p.Phe186Ser)
c.944T>C (p.Phe315Ser)
c.599T>C (p.Phe200Ser)
c.566T>C (p.Phe189Ser)
dbSNP gnomAD v4
18g.3457678T>GCA401723762TGIF1c.497T>G (p.Phe166Cys)
c.557T>G (p.Phe186Cys)
c.944T>G (p.Phe315Cys)
c.599T>G (p.Phe200Cys)
c.566T>G (p.Phe189Cys)
18g.3457678T=CA2281035629TGIF1c.497T= (p.Phe166=)
c.557T= (p.Phe186=)
c.944T= (p.Phe315=)
c.599T= (p.Phe200=)
c.566T= (p.Phe189=)
18g.3457685_3457686delCA645599954TGIF1c.504_505del (p.Cys169ProfsTer?)
c.564_565del (p.Cys189ProfsTer?)
c.951_952del (p.Cys318ProfsTer?)
c.606_607del (p.Cys203ProfsTer?)
c.573_574del (p.Cys192ProfsTer?)
COSMIC COSMIC
18g.3457683_3457686delCA2640853242TGIF1c.502_505del (p.Leu168AlafsTer15)
c.562_565del (p.Leu188AlafsTer15)
c.949_952del (p.Leu317AlafsTer15)
c.604_607del (p.Leu202AlafsTer15)
c.571_574del (p.Leu191AlafsTer15)
gnomAD v4
18g.3457679C>ACA401723765TGIF1c.498C>A (p.Phe166Leu)
c.558C>A (p.Phe186Leu)
c.945C>A (p.Phe315Leu)
c.600C>A (p.Phe200Leu)
c.567C>A (p.Phe189Leu)
18g.3457679C=CA2281035630TGIF1c.498C= (p.Phe166=)
c.558C= (p.Phe186=)
c.945C= (p.Phe315=)
c.600C= (p.Phe200=)
c.567C= (p.Phe189=)
18g.3457679C>GCA401723766TGIF1c.498C>G (p.Phe166Leu)
c.558C>G (p.Phe186Leu)
c.945C>G (p.Phe315Leu)
c.600C>G (p.Phe200Leu)
c.567C>G (p.Phe189Leu)
18g.3457679C>TCA8875974TGIF1c.498C>T (p.Phe166=)
c.558C>T (p.Phe186=)
c.945C>T (p.Phe315=)
c.600C>T (p.Phe200=)
c.567C>T (p.Phe189=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.3457680T>ACA401723767TGIF1c.499T>A (p.Ser167Thr)
c.559T>A (p.Ser187Thr)
c.946T>A (p.Ser316Thr)
c.601T>A (p.Ser201Thr)
c.568T>A (p.Ser190Thr)
COSMIC
18g.3457680T>CCA401723768TGIF1c.499T>C (p.Ser167Pro)
c.559T>C (p.Ser187Pro)
c.946T>C (p.Ser316Pro)
c.601T>C (p.Ser201Pro)
c.568T>C (p.Ser190Pro)
18g.3457680T>GCA401723769TGIF1c.499T>G (p.Ser167Ala)
c.559T>G (p.Ser187Ala)
c.946T>G (p.Ser316Ala)
c.601T>G (p.Ser201Ala)
c.568T>G (p.Ser190Ala)
18g.3457681C>ACA401723770TGIF1c.500C>A (p.Ser167Tyr)
c.560C>A (p.Ser187Tyr)
c.947C>A (p.Ser316Tyr)
c.602C>A (p.Ser201Tyr)
c.569C>A (p.Ser190Tyr)
18g.3457681C=CA2281035631TGIF1c.500C= (p.Ser167=)
c.560C= (p.Ser187=)
c.947C= (p.Ser316=)
c.602C= (p.Ser201=)
c.569C= (p.Ser190=)
18g.3457681C>GCA8875975TGIF1c.500C>G (p.Ser167Cys)
c.560C>G (p.Ser187Cys)
c.947C>G (p.Ser316Cys)
c.602C>G (p.Ser201Cys)
c.569C>G (p.Ser190Cys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
18g.3457681C>TCA401723771TGIF1c.500C>T (p.Ser167Phe)
c.560C>T (p.Ser187Phe)
c.947C>T (p.Ser316Phe)
c.602C>T (p.Ser201Phe)
c.569C>T (p.Ser190Phe)
gnomAD v4
18g.3457682T>ACA502810357TGIF1c.501T>A (p.Ser167=)
c.561T>A (p.Ser187=)
c.948T>A (p.Ser316=)
c.603T>A (p.Ser201=)
c.570T>A (p.Ser190=)
18g.3457682T>CCA502810359TGIF1c.501T>C (p.Ser167=)
c.561T>C (p.Ser187=)
c.948T>C (p.Ser316=)
c.603T>C (p.Ser201=)
c.570T>C (p.Ser190=)
18g.3457682T>GCA502810361TGIF1c.501T>G (p.Ser167=)
c.561T>G (p.Ser187=)
c.948T>G (p.Ser316=)
c.603T>G (p.Ser201=)
c.570T>G (p.Ser190=)
18g.3457683C>ACA401723772TGIF1c.502C>A (p.Leu168Ile)
c.562C>A (p.Leu188Ile)
c.949C>A (p.Leu317Ile)
c.502C>A
c.604C>A (p.Leu202Ile)
c.571C>A (p.Leu191Ile)
18g.3457683C=CA2281035632TGIF1c.502C= (p.Leu168=)
c.562C= (p.Leu188=)
c.949C= (p.Leu317=)
c.502C=
c.604C= (p.Leu202=)
c.571C= (p.Leu191=)
18g.3457683C>GCA401723773TGIF1c.502C>G (p.Leu168Val)
c.562C>G (p.Leu188Val)
c.949C>G (p.Leu317Val)
c.502C>G
c.604C>G (p.Leu202Val)
c.571C>G (p.Leu191Val)
18g.3457683C>TCA8875976TGIF1c.502C>T (p.Leu168Phe)
c.562C>T (p.Leu188Phe)
c.949C>T (p.Leu317Phe)
c.502C>T
c.604C>T (p.Leu202Phe)
c.571C>T (p.Leu191Phe)
dbSNP ExAC gnomAD v2 gnomAD v4
18g.3457684T>ACA401723774TGIF1c.503T>A (p.Leu168His)
c.563T>A (p.Leu188His)
c.950T>A (p.Leu317His)
c.503T>A
c.605T>A (p.Leu202His)
c.572T>A (p.Leu191His)
18g.3457684T>CCA401723776TGIF1c.503T>C (p.Leu168Pro)
c.563T>C (p.Leu188Pro)
c.950T>C (p.Leu317Pro)
c.503T>C
c.605T>C (p.Leu202Pro)
c.572T>C (p.Leu191Pro)
18g.3457684T>GCA401723775TGIF1c.503T>G (p.Leu168Arg)
c.563T>G (p.Leu188Arg)
c.950T>G (p.Leu317Arg)
c.503T>G
c.605T>G (p.Leu202Arg)
c.572T>G (p.Leu191Arg)
18g.3457685C>ACA502810363TGIF1c.504C>A (p.Leu168=)
c.564C>A (p.Leu188=)
c.951C>A (p.Leu317=)
c.606C>A (p.Leu202=)
c.573C>A (p.Leu191=)
18g.3457685C=CA2281035633TGIF1c.504C= (p.Leu168=)
c.564C= (p.Leu188=)
c.951C= (p.Leu317=)
c.606C= (p.Leu202=)
c.573C= (p.Leu191=)
18g.3457685C>GCA8875977TGIF1c.504C>G (p.Leu168=)
c.564C>G (p.Leu188=)
c.951C>G (p.Leu317=)
c.606C>G (p.Leu202=)
c.573C>G (p.Leu191=)
dbSNP ExAC gnomAD v2 gnomAD v4
18g.3457685C>TCA8875978TGIF1c.504C>T (p.Leu168=)
c.564C>T (p.Leu188=)
c.951C>T (p.Leu317=)
c.606C>T (p.Leu202=)
c.573C>T (p.Leu191=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.3457686T>ACA401723777TGIF1c.505T>A (p.Cys169Ser)
c.565T>A (p.Cys189Ser)
c.952T>A (p.Cys318Ser)
c.607T>A (p.Cys203Ser)
c.574T>A (p.Cys192Ser)
18g.3457686T>CCA401723779TGIF1c.505T>C (p.Cys169Arg)
c.565T>C (p.Cys189Arg)
c.952T>C (p.Cys318Arg)
c.607T>C (p.Cys203Arg)
c.574T>C (p.Cys192Arg)
18g.3457686T>GCA401723778TGIF1c.505T>G (p.Cys169Gly)
c.565T>G (p.Cys189Gly)
c.952T>G (p.Cys318Gly)
c.607T>G (p.Cys203Gly)
c.574T>G (p.Cys192Gly)
18g.3457687G>ACA401723780TGIF1c.506G>A (p.Cys169Tyr)
c.566G>A (p.Cys189Tyr)
c.953G>A (p.Cys318Tyr)
c.608G>A (p.Cys203Tyr)
c.575G>A (p.Cys192Tyr)
dbSNP
18g.3457687G>CCA401723781TGIF1c.506G>C (p.Cys169Ser)
c.566G>C (p.Cys189Ser)
c.953G>C (p.Cys318Ser)
c.608G>C (p.Cys203Ser)
c.575G>C (p.Cys192Ser)
18g.3457687G=CA2281035634TGIF1c.506G= (p.Cys169=)
c.566G= (p.Cys189=)
c.953G= (p.Cys318=)
c.608G= (p.Cys203=)
c.575G= (p.Cys192=)
18g.3457687G>TCA401723782TGIF1c.506G>T (p.Cys169Phe)
c.566G>T (p.Cys189Phe)
c.953G>T (p.Cys318Phe)
c.608G>T (p.Cys203Phe)
c.575G>T (p.Cys192Phe)
18g.3457688C>ACA401723783TGIF1c.507C>A (p.Cys169Ter)
c.567C>A (p.Cys189Ter)
c.954C>A (p.Cys318Ter)
c.609C>A (p.Cys203Ter)
c.576C>A (p.Cys192Ter)
18g.3457688C=CA2281035635TGIF1c.507C= (p.Cys169=)
c.567C= (p.Cys189=)
c.954C= (p.Cys318=)
c.609C= (p.Cys203=)
c.576C= (p.Cys192=)
18g.3457688C>GCA8875979TGIF1c.507C>G (p.Cys169Trp)
c.567C>G (p.Cys189Trp)
c.954C>G (p.Cys318Trp)
c.609C>G (p.Cys203Trp)
c.576C>G (p.Cys192Trp)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.3457688C>TCA502810365TGIF1c.507C>T (p.Cys169=)
c.567C>T (p.Cys189=)
c.954C>T (p.Cys318=)
c.609C>T (p.Cys203=)
c.576C>T (p.Cys192=)
gnomAD v4
18g.3457689C>ACA401723784TGIF1c.508C>A (p.Gln170Lys)
c.568C>A (p.Gln190Lys)
c.955C>A (p.Gln319Lys)
c.610C>A (p.Gln204Lys)
c.577C>A (p.Gln193Lys)
18g.3457689C>GCA401723785TGIF1c.508C>G (p.Gln170Glu)
c.568C>G (p.Gln190Glu)
c.955C>G (p.Gln319Glu)
c.610C>G (p.Gln204Glu)
c.577C>G (p.Gln193Glu)
18g.3457689C>TCA401723786TGIF1c.508C>T (p.Gln170Ter)
c.568C>T (p.Gln190Ter)
c.955C>T (p.Gln319Ter)
c.610C>T (p.Gln204Ter)
c.577C>T (p.Gln193Ter)
18g.3457690A=CA2281035636TGIF1c.509A= (p.Gln170=)
c.569A= (p.Gln190=)
c.956A= (p.Gln319=)
c.611A= (p.Gln204=)
c.578A= (p.Gln193=)
18g.3457690A>CCA401723787TGIF1c.509A>C (p.Gln170Pro)
c.569A>C (p.Gln190Pro)
c.956A>C (p.Gln319Pro)
c.611A>C (p.Gln204Pro)
c.578A>C (p.Gln193Pro)
18g.3457690A>GCA8875980TGIF1c.509A>G (p.Gln170Arg)
c.569A>G (p.Gln190Arg)
c.956A>G (p.Gln319Arg)
c.611A>G (p.Gln204Arg)
c.578A>G (p.Gln193Arg)
dbSNP ExAC gnomAD v2 gnomAD v4
18g.3457690A>TCA401723788TGIF1c.509A>T (p.Gln170Leu)
c.569A>T (p.Gln190Leu)
c.956A>T (p.Gln319Leu)
c.611A>T (p.Gln204Leu)
c.578A>T (p.Gln193Leu)
18g.3457691G>ACA502810367TGIF1c.510G>A (p.Gln170=)
c.570G>A (p.Gln190=)
c.957G>A (p.Gln319=)
c.612G>A (p.Gln204=)
c.579G>A (p.Gln193=)
18g.3457691G>CCA401723790TGIF1c.510G>C (p.Gln170His)
c.570G>C (p.Gln190His)
c.957G>C (p.Gln319His)
c.612G>C (p.Gln204His)
c.579G>C (p.Gln193His)
18g.3457691G>TCA401723789TGIF1c.510G>T (p.Gln170His)
c.570G>T (p.Gln190His)
c.957G>T (p.Gln319His)
c.612G>T (p.Gln204His)
c.579G>T (p.Gln193His)
18g.3457692T>ACA401723791TGIF1c.511T>A (p.Ser171Thr)
c.571T>A (p.Ser191Thr)
c.958T>A (p.Ser320Thr)
c.613T>A (p.Ser205Thr)
c.580T>A (p.Ser194Thr)
18g.3457692T>CCA401723792TGIF1c.511T>C (p.Ser171Pro)
c.571T>C (p.Ser191Pro)
c.958T>C (p.Ser320Pro)
c.613T>C (p.Ser205Pro)
c.580T>C (p.Ser194Pro)
dbSNP COSMIC
18g.3457692T>GCA401723793TGIF1c.511T>G (p.Ser171Ala)
c.571T>G (p.Ser191Ala)
c.958T>G (p.Ser320Ala)
c.613T>G (p.Ser205Ala)
c.580T>G (p.Ser194Ala)
18g.3457692T=CA2281035637TGIF1c.511T= (p.Ser171=)
c.571T= (p.Ser191=)
c.958T= (p.Ser320=)
c.613T= (p.Ser205=)
c.580T= (p.Ser194=)
18g.3457693C>ACA401723794TGIF1c.512C>A (p.Ser171Ter)
c.572C>A (p.Ser191Ter)
c.959C>A (p.Ser320Ter)
c.614C>A (p.Ser205Ter)
c.581C>A (p.Ser194Ter)
dbSNP gnomAD v4
18g.3457693C=CA2281035638TGIF1c.512C= (p.Ser171=)
c.572C= (p.Ser191=)
c.959C= (p.Ser320=)
c.614C= (p.Ser205=)
c.581C= (p.Ser194=)
18g.3457693C>GCA401723795TGIF1c.512C>G (p.Ser171Trp)
c.572C>G (p.Ser191Trp)
c.959C>G (p.Ser320Trp)
c.614C>G (p.Ser205Trp)
c.581C>G (p.Ser194Trp)
18g.3457693C>TCA8875981TGIF1c.512C>T (p.Ser171Leu)
c.572C>T (p.Ser191Leu)
c.959C>T (p.Ser320Leu)
c.614C>T (p.Ser205Leu)
c.581C>T (p.Ser194Leu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.3457694G>ACA8875983TGIF1c.513G>A (p.Ser171=)
c.573G>A (p.Ser191=)
c.960G>A (p.Ser320=)
c.615G>A (p.Ser205=)
c.582G>A (p.Ser194=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.3457694G>CCA502810371TGIF1c.513G>C (p.Ser171=)
c.573G>C (p.Ser191=)
c.960G>C (p.Ser320=)
c.615G>C (p.Ser205=)
c.582G>C (p.Ser194=)
18g.3457694G=CA2281035639TGIF1c.513G= (p.Ser171=)
c.573G= (p.Ser191=)
c.960G= (p.Ser320=)
c.615G= (p.Ser205=)
c.582G= (p.Ser194=)
18g.3457694G>TCA8875982TGIF1c.513G>T (p.Ser171=)
c.573G>T (p.Ser191=)
c.960G>T (p.Ser320=)
c.615G>T (p.Ser205=)
c.582G>T (p.Ser194=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.3457695G>ACA401723796TGIF1c.514G>A (p.Val172Ile)
c.574G>A (p.Val192Ile)
c.961G>A (p.Val321Ile)
c.616G>A (p.Val206Ile)
c.583G>A (p.Val195Ile)
gnomAD v4
18g.3457695G>CCA401723797TGIF1c.514G>C (p.Val172Leu)
c.574G>C (p.Val192Leu)
c.961G>C (p.Val321Leu)
c.616G>C (p.Val206Leu)
c.583G>C (p.Val195Leu)
18g.3457695G>TCA401723798TGIF1c.514G>T (p.Val172Phe)
c.574G>T (p.Val192Phe)
c.961G>T (p.Val321Phe)
c.616G>T (p.Val206Phe)
c.583G>T (p.Val195Phe)
18g.3457696T>ACA401723800TGIF1c.515T>A (p.Val172Asp)
c.575T>A (p.Val192Asp)
c.962T>A (p.Val321Asp)
c.617T>A (p.Val206Asp)
c.584T>A (p.Val195Asp)
18g.3457696T>CCA401723801TGIF1c.515T>C (p.Val172Ala)
c.575T>C (p.Val192Ala)
c.962T>C (p.Val321Ala)
c.617T>C (p.Val206Ala)
c.584T>C (p.Val195Ala)
18g.3457696T>GCA401723799TGIF1c.515T>G (p.Val172Gly)
c.575T>G (p.Val192Gly)
c.962T>G (p.Val321Gly)
c.617T>G (p.Val206Gly)
c.584T>G (p.Val195Gly)
18g.3457697C>ACA502810373TGIF1c.516C>A (p.Val172=)
c.576C>A (p.Val192=)
c.963C>A (p.Val321=)
c.618C>A (p.Val206=)
c.585C>A (p.Val195=)
18g.3457697C=CA2281035640TGIF1c.516C= (p.Val172=)
c.576C= (p.Val192=)
c.963C= (p.Val321=)
c.618C= (p.Val206=)
c.585C= (p.Val195=)
18g.3457697C>GCA502810374TGIF1c.516C>G (p.Val172=)
c.576C>G (p.Val192=)
c.963C>G (p.Val321=)
c.618C>G (p.Val206=)
c.585C>G (p.Val195=)
18g.3457697C>TCA8875984TGIF1c.516C>T (p.Val172=)
c.576C>T (p.Val192=)
c.963C>T (p.Val321=)
c.618C>T (p.Val206=)
c.585C>T (p.Val195=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.3457698G>ACA8875985TGIF1c.517G>A (p.Gly173Ser)
c.577G>A (p.Gly193Ser)
c.964G>A (p.Gly322Ser)
c.619G>A (p.Gly207Ser)
c.586G>A (p.Gly196Ser)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.3457698G>CCA401723802TGIF1c.517G>C (p.Gly173Arg)
c.577G>C (p.Gly193Arg)
c.964G>C (p.Gly322Arg)
c.619G>C (p.Gly207Arg)
c.586G>C (p.Gly196Arg)
18g.3457698G=CA2281035641TGIF1c.517G= (p.Gly173=)
c.577G= (p.Gly193=)
c.964G= (p.Gly322=)
c.619G= (p.Gly207=)
c.586G= (p.Gly196=)
18g.3457698G>TCA401723803TGIF1c.517G>T (p.Gly173Cys)
c.577G>T (p.Gly193Cys)
c.964G>T (p.Gly322Cys)
c.619G>T (p.Gly207Cys)
c.586G>T (p.Gly196Cys)
18g.3457699G>ACA401723804TGIF1c.518G>A (p.Gly173Asp)
c.578G>A (p.Gly193Asp)
c.965G>A (p.Gly322Asp)
c.620G>A (p.Gly207Asp)
c.587G>A (p.Gly196Asp)
18g.3457699G>CCA401723805TGIF1c.518G>C (p.Gly173Ala)
c.578G>C (p.Gly193Ala)
c.965G>C (p.Gly322Ala)
c.620G>C (p.Gly207Ala)
c.587G>C (p.Gly196Ala)
18g.3457699G=CA2281035642TGIF1c.518G= (p.Gly173=)
c.578G= (p.Gly193=)
c.965G= (p.Gly322=)
c.620G= (p.Gly207=)
c.587G= (p.Gly196=)
18g.3457699G>TCA401723806TGIF1c.518G>T (p.Gly173Val)
c.578G>T (p.Gly193Val)
c.965G>T (p.Gly322Val)
c.620G>T (p.Gly207Val)
c.587G>T (p.Gly196Val)
dbSNP
18g.3457700T>ACA502810376TGIF1c.519T>A (p.Gly173=)
c.579T>A (p.Gly193=)
c.966T>A (p.Gly322=)
c.621T>A (p.Gly207=)
c.588T>A (p.Gly196=)
18g.3457700T>CCA502810377TGIF1c.519T>C (p.Gly173=)
c.579T>C (p.Gly193=)
c.966T>C (p.Gly322=)
c.621T>C (p.Gly207=)
c.588T>C (p.Gly196=)
18g.3457700T>GCA502810379TGIF1c.519T>G (p.Gly173=)
c.579T>G (p.Gly193=)
c.966T>G (p.Gly322=)
c.621T>G (p.Gly207=)
c.588T>G (p.Gly196=)
18g.3457701G>ACA401723807TGIF1c.520G>A (p.Val174Met)
c.580G>A (p.Val194Met)
c.967G>A (p.Val323Met)
c.622G>A (p.Val208Met)
c.589G>A (p.Val197Met)
18g.3457701G>CCA401723808TGIF1c.520G>C (p.Val174Leu)
c.580G>C (p.Val194Leu)
c.967G>C (p.Val323Leu)
c.622G>C (p.Val208Leu)
c.589G>C (p.Val197Leu)
18g.3457701G>TCA401723809TGIF1c.520G>T (p.Val174Leu)
c.580G>T (p.Val194Leu)
c.967G>T (p.Val323Leu)
c.622G>T (p.Val208Leu)
c.589G>T (p.Val197Leu)
18g.3457702T>ACA401723810TGIF1c.521T>A (p.Val174Glu)
c.581T>A (p.Val194Glu)
c.968T>A (p.Val323Glu)
c.623T>A (p.Val208Glu)
c.590T>A (p.Val197Glu)
18g.3457702T>CCA401723811TGIF1c.521T>C (p.Val174Ala)
c.581T>C (p.Val194Ala)
c.968T>C (p.Val323Ala)
c.623T>C (p.Val208Ala)
c.590T>C (p.Val197Ala)
18g.3457702T>GCA344817TGIF1c.521T>G (p.Val174Gly)
c.581T>G (p.Val194Gly)
c.968T>G (p.Val323Gly)
c.623T>G (p.Val208Gly)
c.590T>G (p.Val197Gly)
ClinVar dbSNP
18g.3457702T=CA2281035643TGIF1c.521T= (p.Val174=)
c.581T= (p.Val194=)
c.968T= (p.Val323=)
c.623T= (p.Val208=)
c.590T= (p.Val197=)
18g.3457703G>ACA8875986TGIF1c.522G>A (p.Val174=)
c.582G>A (p.Val194=)
c.969G>A (p.Val323=)
c.624G>A (p.Val208=)
c.591G>A (p.Val197=)
dbSNP ExAC
18g.3457703G>CCA502810382TGIF1c.522G>C (p.Val174=)
c.582G>C (p.Val194=)
c.969G>C (p.Val323=)
c.624G>C (p.Val208=)
c.591G>C (p.Val197=)
18g.3457703G=CA2281035644TGIF1c.522G= (p.Val174=)
c.582G= (p.Val194=)
c.969G= (p.Val323=)
c.624G= (p.Val208=)
c.591G= (p.Val197=)
18g.3457703G>TCA502810384TGIF1c.522G>T (p.Val174=)
c.582G>T (p.Val194=)
c.969G>T (p.Val323=)
c.624G>T (p.Val208=)
c.591G>T (p.Val197=)
gnomAD v4
18g.3457704G>ACA401723812TGIF1c.523G>A (p.Gly175Arg)
c.583G>A (p.Gly195Arg)
c.970G>A (p.Gly324Arg)
c.625G>A (p.Gly209Arg)
c.592G>A (p.Gly198Arg)
18g.3457704G>CCA401723813TGIF1c.523G>C (p.Gly175Arg)
c.583G>C (p.Gly195Arg)
c.970G>C (p.Gly324Arg)
c.625G>C (p.Gly209Arg)
c.592G>C (p.Gly198Arg)
18g.3457704G>TCA401723814TGIF1c.523G>T (p.Gly175Ter)
c.583G>T (p.Gly195Ter)
c.970G>T (p.Gly324Ter)
c.625G>T (p.Gly209Ter)
c.592G>T (p.Gly198Ter)
18g.3457705G>ACA401723815TGIF1c.524G>A (p.Gly175Glu)
c.584G>A (p.Gly195Glu)
c.971G>A (p.Gly324Glu)
c.626G>A (p.Gly209Glu)
c.593G>A (p.Gly198Glu)
18g.3457705G>CCA295567320TGIF1c.524G>C (p.Gly175Ala)
c.584G>C (p.Gly195Ala)
c.971G>C (p.Gly324Ala)
c.626G>C (p.Gly209Ala)
c.593G>C (p.Gly198Ala)
dbSNP
18g.3457705G=CA2281035645TGIF1c.524G= (p.Gly175=)
c.584G= (p.Gly195=)
c.971G= (p.Gly324=)
c.626G= (p.Gly209=)
c.593G= (p.Gly198=)
18g.3457705G>TCA401723816TGIF1c.524G>T (p.Gly175Val)
c.584G>T (p.Gly195Val)
c.971G>T (p.Gly324Val)
c.626G>T (p.Gly209Val)
c.593G>T (p.Gly198Val)
18g.3457706A>CCA502810385TGIF1c.525A>C (p.Gly175=)
c.585A>C (p.Gly195=)
c.972A>C (p.Gly324=)
c.627A>C (p.Gly209=)
c.594A>C (p.Gly198=)
18g.3457706A>GCA502810386TGIF1c.525A>G (p.Gly175=)
c.585A>G (p.Gly195=)
c.972A>G (p.Gly324=)
c.627A>G (p.Gly209=)
c.594A>G (p.Gly198=)
18g.3457706A>TCA502810387TGIF1c.525A>T (p.Gly175=)
c.585A>T (p.Gly195=)
c.972A>T (p.Gly324=)
c.627A>T (p.Gly209=)
c.594A>T (p.Gly198=)
gnomAD v4
18g.3457707C>ACA401723817TGIF1c.526C>A (p.Gln176Lys)
c.586C>A (p.Gln196Lys)
c.973C>A (p.Gln325Lys)
c.628C>A (p.Gln210Lys)
c.595C>A (p.Gln199Lys)
18g.3457707C>GCA401723818TGIF1c.526C>G (p.Gln176Glu)
c.586C>G (p.Gln196Glu)
c.973C>G (p.Gln325Glu)
c.628C>G (p.Gln210Glu)
c.595C>G (p.Gln199Glu)
18g.3457707C>TCA401723819TGIF1c.526C>T (p.Gln176Ter)
c.586C>T (p.Gln196Ter)
c.973C>T (p.Gln325Ter)
c.628C>T (p.Gln210Ter)
c.595C>T (p.Gln199Ter)
18g.3457708A=CA2281035646TGIF1c.527A= (p.Gln176=)
c.587A= (p.Gln196=)
c.974A= (p.Gln325=)
c.629A= (p.Gln210=)
c.596A= (p.Gln199=)
18g.3457708A>CCA401723820TGIF1c.527A>C (p.Gln176Pro)
c.587A>C (p.Gln196Pro)
c.974A>C (p.Gln325Pro)
c.629A>C (p.Gln210Pro)
c.596A>C (p.Gln199Pro)
18g.3457708A>GCA8875987TGIF1c.527A>G (p.Gln176Arg)
c.587A>G (p.Gln196Arg)
c.974A>G (p.Gln325Arg)
c.629A>G (p.Gln210Arg)
c.596A>G (p.Gln199Arg)
dbSNP ExAC gnomAD v2 gnomAD v4
18g.3457708A>TCA401723821TGIF1c.527A>T (p.Gln176Leu)
c.587A>T (p.Gln196Leu)
c.974A>T (p.Gln325Leu)
c.629A>T (p.Gln210Leu)
c.596A>T (p.Gln199Leu)
18g.3457709A>CCA401723822TGIF1c.528A>C (p.Gln176His)
c.588A>C (p.Gln196His)
c.975A>C (p.Gln325His)
c.630A>C (p.Gln210His)
c.597A>C (p.Gln199His)
18g.3457709A>GCA502810388TGIF1c.528A>G (p.Gln176=)
c.588A>G (p.Gln196=)
c.975A>G (p.Gln325=)
c.630A>G (p.Gln210=)
c.597A>G (p.Gln199=)
18g.3457709A>TCA401723823TGIF1c.528A>T (p.Gln176His)
c.588A>T (p.Gln196His)
c.975A>T (p.Gln325His)
c.630A>T (p.Gln210His)
c.597A>T (p.Gln199His)
18g.3457710A=CA2281035647TGIF1c.529A= (p.Asn177=)
c.589A= (p.Asn197=)
c.976A= (p.Asn326=)
c.631A= (p.Asn211=)
c.598A= (p.Asn200=)
18g.3457710A>CCA401723824TGIF1c.529A>C (p.Asn177His)
c.589A>C (p.Asn197His)
c.976A>C (p.Asn326His)
c.631A>C (p.Asn211His)
c.598A>C (p.Asn200His)
18g.3457710A>GCA401723825TGIF1c.529A>G (p.Asn177Asp)
c.589A>G (p.Asn197Asp)
c.976A>G (p.Asn326Asp)
c.631A>G (p.Asn211Asp)
c.598A>G (p.Asn200Asp)
18g.3457710A>TCA8875988TGIF1c.529A>T (p.Asn177Tyr)
c.589A>T (p.Asn197Tyr)
c.976A>T (p.Asn326Tyr)
c.631A>T (p.Asn211Tyr)
c.598A>T (p.Asn200Tyr)
dbSNP ExAC gnomAD v2 gnomAD v4
18g.3457711A>CCA401723828TGIF1c.530A>C (p.Asn177Thr)
c.590A>C (p.Asn197Thr)
c.977A>C (p.Asn326Thr)
c.632A>C (p.Asn211Thr)
c.599A>C (p.Asn200Thr)
18g.3457711A>GCA401723826TGIF1c.530A>G (p.Asn177Ser)
c.590A>G (p.Asn197Ser)
c.977A>G (p.Asn326Ser)
c.632A>G (p.Asn211Ser)
c.599A>G (p.Asn200Ser)
dbSNP
18g.3457711A>TCA401723827TGIF1c.530A>T (p.Asn177Ile)
c.590A>T (p.Asn197Ile)
c.977A>T (p.Asn326Ile)
c.632A>T (p.Asn211Ile)
c.599A>T (p.Asn200Ile)
18g.3457714_3457715delCA2640853261TGIF1c.533_534del (p.Thr178ArgfsTer23)
c.593_594del (p.Thr198ArgfsTer23)
c.980_981del (p.Thr327ArgfsTer23)
c.635_636del (p.Thr212ArgfsTer23)
c.602_603del (p.Thr201ArgfsTer23)
gnomAD v4
18g.3457712C>ACA401723829TGIF1c.531C>A (p.Asn177Lys)
c.591C>A (p.Asn197Lys)
c.978C>A (p.Asn326Lys)
c.633C>A (p.Asn211Lys)
c.600C>A (p.Asn200Lys)
18g.3457712C>GCA401723830TGIF1c.531C>G (p.Asn177Lys)
c.591C>G (p.Asn197Lys)
c.978C>G (p.Asn326Lys)
c.633C>G (p.Asn211Lys)
c.600C>G (p.Asn200Lys)
18g.3457712C>TCA502810391TGIF1c.531C>T (p.Asn177=)
c.591C>T (p.Asn197=)
c.978C>T (p.Asn326=)
c.633C>T (p.Asn211=)
c.600C>T (p.Asn200=)
18g.3457713A>CCA401723831TGIF1c.532A>C (p.Thr178Pro)
c.592A>C (p.Thr198Pro)
c.979A>C (p.Thr327Pro)
c.634A>C (p.Thr212Pro)
c.601A>C (p.Thr201Pro)
18g.3457713A>GCA401723832TGIF1c.532A>G (p.Thr178Ala)
c.592A>G (p.Thr198Ala)
c.979A>G (p.Thr327Ala)
c.634A>G (p.Thr212Ala)
c.601A>G (p.Thr201Ala)
18g.3457713A>TCA401723833TGIF1c.532A>T (p.Thr178Ser)
c.592A>T (p.Thr198Ser)
c.979A>T (p.Thr327Ser)
c.634A>T (p.Thr212Ser)
c.601A>T (p.Thr201Ser)
18g.3457714C>ACA401723834TGIF1c.533C>A (p.Thr178Lys)
c.593C>A (p.Thr198Lys)
c.980C>A (p.Thr327Lys)
c.635C>A (p.Thr212Lys)
c.602C>A (p.Thr201Lys)
18g.3457714C=CA2281035648TGIF1c.533C= (p.Thr178=)
c.593C= (p.Thr198=)
c.980C= (p.Thr327=)
c.635C= (p.Thr212=)
c.602C= (p.Thr201=)
18g.3457714C>GCA401723835TGIF1c.533C>G (p.Thr178Arg)
c.593C>G (p.Thr198Arg)
c.980C>G (p.Thr327Arg)
c.635C>G (p.Thr212Arg)
c.602C>G (p.Thr201Arg)
18g.3457714C>TCA401723836TGIF1c.533C>T (p.Thr178Ile)
c.593C>T (p.Thr198Ile)
c.980C>T (p.Thr327Ile)
c.635C>T (p.Thr212Ile)
c.602C>T (p.Thr201Ile)
dbSNP
18g.3457715A>CCA502810392TGIF1c.534A>C (p.Thr178=)
c.594A>C (p.Thr198=)
c.981A>C (p.Thr327=)
c.636A>C (p.Thr212=)
c.603A>C (p.Thr201=)
gnomAD v4
18g.3457715A>GCA502810393TGIF1c.534A>G (p.Thr178=)
c.594A>G (p.Thr198=)
c.981A>G (p.Thr327=)
c.636A>G (p.Thr212=)
c.603A>G (p.Thr201=)
18g.3457715A>TCA502810394TGIF1c.534A>T (p.Thr178=)
c.594A>T (p.Thr198=)
c.981A>T (p.Thr327=)
c.636A>T (p.Thr212=)
c.603A>T (p.Thr201=)
18g.3457716G>ACA401723837TGIF1c.535G>A (p.Asp179Asn)
c.595G>A (p.Asp199Asn)
c.982G>A (p.Asp328Asn)
c.637G>A (p.Asp213Asn)
c.604G>A (p.Asp202Asn)
gnomAD v4
18g.3457716G>CCA401723838TGIF1c.535G>C (p.Asp179His)
c.595G>C (p.Asp199His)
c.982G>C (p.Asp328His)
c.637G>C (p.Asp213His)
c.604G>C (p.Asp202His)
18g.3457716G>TCA401723839TGIF1c.535G>T (p.Asp179Tyr)
c.595G>T (p.Asp199Tyr)
c.982G>T (p.Asp328Tyr)
c.637G>T (p.Asp213Tyr)
c.604G>T (p.Asp202Tyr)
18g.3457717A=CA2281035649TGIF1c.536A= (p.Asp179=)
c.596A= (p.Asp199=)
c.983A= (p.Asp328=)
c.638A= (p.Asp213=)
c.605A= (p.Asp202=)
18g.3457717A>CCA401723841TGIF1c.536A>C (p.Asp179Ala)
c.596A>C (p.Asp199Ala)
c.983A>C (p.Asp328Ala)
c.638A>C (p.Asp213Ala)
c.605A>C (p.Asp202Ala)
18g.3457717A>GCA401723840TGIF1c.536A>G (p.Asp179Gly)
c.596A>G (p.Asp199Gly)
c.983A>G (p.Asp328Gly)
c.638A>G (p.Asp213Gly)
c.605A>G (p.Asp202Gly)
18g.3457717A>TCA8875989TGIF1c.536A>T (p.Asp179Val)
c.596A>T (p.Asp199Val)
c.983A>T (p.Asp328Val)
c.638A>T (p.Asp213Val)
c.605A>T (p.Asp202Val)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.3457718T>ACA401723842TGIF1c.537T>A (p.Asp179Glu)
c.597T>A (p.Asp199Glu)
c.984T>A (p.Asp328Glu)
c.639T>A (p.Asp213Glu)
c.606T>A (p.Asp202Glu)
18g.3457718T>CCA502810397TGIF1c.537T>C (p.Asp179=)
c.597T>C (p.Asp199=)
c.984T>C (p.Asp328=)
c.639T>C (p.Asp213=)
c.606T>C (p.Asp202=)
18g.3457718T>GCA401723843TGIF1c.537T>G (p.Asp179Glu)
c.597T>G (p.Asp199Glu)
c.984T>G (p.Asp328Glu)
c.639T>G (p.Asp213Glu)
c.606T>G (p.Asp202Glu)
18g.3457719A>CCA401723844TGIF1c.538A>C (p.Ile180Leu)
c.598A>C (p.Ile200Leu)
c.985A>C (p.Ile329Leu)
c.640A>C (p.Ile214Leu)
c.607A>C (p.Ile203Leu)
18g.3457719A>GCA401723845TGIF1c.538A>G (p.Ile180Val)
c.598A>G (p.Ile200Val)
c.985A>G (p.Ile329Val)
c.640A>G (p.Ile214Val)
c.607A>G (p.Ile203Val)
gnomAD v4
18g.3457719A>TCA401723846TGIF1c.538A>T (p.Ile180Leu)
c.598A>T (p.Ile200Leu)
c.985A>T (p.Ile329Leu)
c.640A>T (p.Ile214Leu)
c.607A>T (p.Ile203Leu)
18g.3457720T>ACA401723847TGIF1c.539T>A (p.Ile180Lys)
c.599T>A (p.Ile200Lys)
c.986T>A (p.Ile329Lys)
c.641T>A (p.Ile214Lys)
c.608T>A (p.Ile203Lys)
18g.3457720T>CCA8875990TGIF1c.539T>C (p.Ile180Thr)
c.599T>C (p.Ile200Thr)
c.986T>C (p.Ile329Thr)
c.641T>C (p.Ile214Thr)
c.608T>C (p.Ile203Thr)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.3457720T>GCA401723848TGIF1c.539T>G (p.Ile180Arg)
c.599T>G (p.Ile200Arg)
c.986T>G (p.Ile329Arg)
c.641T>G (p.Ile214Arg)
c.608T>G (p.Ile203Arg)
18g.3457720T=CA2281035650TGIF1c.539T= (p.Ile180=)
c.599T= (p.Ile200=)
c.986T= (p.Ile329=)
c.641T= (p.Ile214=)
c.608T= (p.Ile203=)
18g.3457721A>CCA502810401TGIF1c.540A>C (p.Ile180=)
c.600A>C (p.Ile200=)
c.987A>C (p.Ile329=)
c.642A>C (p.Ile214=)
c.609A>C (p.Ile203=)
18g.3457721A>GCA401723849TGIF1c.540A>G (p.Ile180Met)
c.600A>G (p.Ile200Met)
c.987A>G (p.Ile329Met)
c.642A>G (p.Ile214Met)
c.609A>G (p.Ile203Met)
gnomAD v4
18g.3457721A>TCA502810403TGIF1c.540A>T (p.Ile180=)
c.600A>T (p.Ile200=)
c.987A>T (p.Ile329=)
c.642A>T (p.Ile214=)
c.609A>T (p.Ile203=)
18g.3457722C>ACA401723850TGIF1c.541C>A (p.Gln181Lys)
c.601C>A (p.Gln201Lys)
c.988C>A (p.Gln330Lys)
c.643C>A (p.Gln215Lys)
c.610C>A (p.Gln204Lys)
18g.3457722C>GCA401723851TGIF1c.541C>G (p.Gln181Glu)
c.601C>G (p.Gln201Glu)
c.988C>G (p.Gln330Glu)
c.643C>G (p.Gln215Glu)
c.610C>G (p.Gln204Glu)
gnomAD v4
18g.3457722C>TCA401723852TGIF1c.541C>T (p.Gln181Ter)
c.601C>T (p.Gln201Ter)
c.988C>T (p.Gln330Ter)
c.643C>T (p.Gln215Ter)
c.610C>T (p.Gln204Ter)
18g.3457723A=CA2281035651TGIF1c.542A= (p.Gln181=)
c.602A= (p.Gln201=)
c.989A= (p.Gln330=)
c.644A= (p.Gln215=)
c.611A= (p.Gln204=)
18g.3457723A>CCA401723854TGIF1c.542A>C (p.Gln181Pro)
c.602A>C (p.Gln201Pro)
c.989A>C (p.Gln330Pro)
c.644A>C (p.Gln215Pro)
c.611A>C (p.Gln204Pro)
18g.3457723A>GCA295567328TGIF1c.542A>G (p.Gln181Arg)
c.602A>G (p.Gln201Arg)
c.989A>G (p.Gln330Arg)
c.644A>G (p.Gln215Arg)
c.611A>G (p.Gln204Arg)
dbSNP gnomAD v4
18g.3457723A>TCA401723853TGIF1c.542A>T (p.Gln181Leu)
c.602A>T (p.Gln201Leu)
c.989A>T (p.Gln330Leu)
c.644A>T (p.Gln215Leu)
c.611A>T (p.Gln204Leu)
18g.3457724G>ACA502810405TGIF1c.543G>A (p.Gln181=)
c.603G>A (p.Gln201=)
c.990G>A (p.Gln330=)
c.645G>A (p.Gln215=)
c.612G>A (p.Gln204=)
18g.3457724G>CCA401723855TGIF1c.543G>C (p.Gln181His)
c.603G>C (p.Gln201His)
c.990G>C (p.Gln330His)
c.645G>C (p.Gln215His)
c.612G>C (p.Gln204His)
dbSNP gnomAD v2 gnomAD v4
18g.3457724G=CA2281035652TGIF1c.543G= (p.Gln181=)
c.603G= (p.Gln201=)
c.990G= (p.Gln330=)
c.645G= (p.Gln215=)
c.612G= (p.Gln204=)
18g.3457724G>TCA401723856TGIF1c.543G>T (p.Gln181His)
c.603G>T (p.Gln201His)
c.990G>T (p.Gln330His)
c.645G>T (p.Gln215His)
c.612G>T (p.Gln204His)
18g.3457725C>ACA401723857TGIF1c.544C>A (p.Gln182Lys)
c.604C>A (p.Gln202Lys)
c.991C>A (p.Gln331Lys)
c.646C>A (p.Gln216Lys)
c.613C>A (p.Gln205Lys)
18g.3457725C>GCA401723858TGIF1c.544C>G (p.Gln182Glu)
c.604C>G (p.Gln202Glu)
c.991C>G (p.Gln331Glu)
c.646C>G (p.Gln216Glu)
c.613C>G (p.Gln205Glu)
18g.3457725C>TCA401723859TGIF1c.544C>T (p.Gln182Ter)
c.604C>T (p.Gln202Ter)
c.991C>T (p.Gln331Ter)
c.646C>T (p.Gln216Ter)
c.613C>T (p.Gln205Ter)
18g.3457726A>CCA401723860TGIF1c.545A>C (p.Gln182Pro)
c.605A>C (p.Gln202Pro)
c.992A>C (p.Gln331Pro)
c.647A>C (p.Gln216Pro)
c.614A>C (p.Gln205Pro)
18g.3457726A>GCA401723861TGIF1c.545A>G (p.Gln182Arg)
c.605A>G (p.Gln202Arg)
c.992A>G (p.Gln331Arg)
c.647A>G (p.Gln216Arg)
c.614A>G (p.Gln205Arg)
18g.3457726A>TCA401723862TGIF1c.545A>T (p.Gln182Leu)
c.605A>T (p.Gln202Leu)
c.992A>T (p.Gln331Leu)
c.647A>T (p.Gln216Leu)
c.614A>T (p.Gln205Leu)
18g.3457727G>ACA502810410TGIF1c.546G>A (p.Gln182=)
c.606G>A (p.Gln202=)
c.993G>A (p.Gln331=)
c.648G>A (p.Gln216=)
c.615G>A (p.Gln205=)
gnomAD v4
18g.3457727G>CCA401723863TGIF1c.546G>C (p.Gln182His)
c.606G>C (p.Gln202His)
c.993G>C (p.Gln331His)
c.648G>C (p.Gln216His)
c.615G>C (p.Gln205His)
18g.3457727G>TCA401723864TGIF1c.546G>T (p.Gln182His)
c.606G>T (p.Gln202His)
c.993G>T (p.Gln331His)
c.648G>T (p.Gln216His)
c.615G>T (p.Gln205His)
18g.3457728A=CA2281035653TGIF1c.547A= (p.Ile183=)
c.607A= (p.Ile203=)
c.994A= (p.Ile332=)
c.649A= (p.Ile217=)
c.616A= (p.Ile206=)
18g.3457728A>CCA401723865TGIF1c.547A>C (p.Ile183Leu)
c.607A>C (p.Ile203Leu)
c.994A>C (p.Ile332Leu)
c.649A>C (p.Ile217Leu)
c.616A>C (p.Ile206Leu)
18g.3457728A>GCA8875991TGIF1c.547A>G (p.Ile183Val)
c.607A>G (p.Ile203Val)
c.994A>G (p.Ile332Val)
c.649A>G (p.Ile217Val)
c.616A>G (p.Ile206Val)
dbSNP ExAC gnomAD v4
18g.3457728A>TCA401723866TGIF1c.547A>T (p.Ile183Leu)
c.607A>T (p.Ile203Leu)
c.994A>T (p.Ile332Leu)
c.649A>T (p.Ile217Leu)
c.616A>T (p.Ile206Leu)
18g.3457729T>ACA401723868TGIF1c.548T>A (p.Ile183Lys)
c.608T>A (p.Ile203Lys)
c.995T>A (p.Ile332Lys)
c.650T>A (p.Ile217Lys)
c.617T>A (p.Ile206Lys)
18g.3457729T>CCA8875992TGIF1c.548T>C (p.Ile183Thr)
c.608T>C (p.Ile203Thr)
c.995T>C (p.Ile332Thr)
c.650T>C (p.Ile217Thr)
c.617T>C (p.Ile206Thr)
dbSNP ExAC gnomAD v2 gnomAD v4
18g.3457729T>GCA401723867TGIF1c.548T>G (p.Ile183Arg)
c.608T>G (p.Ile203Arg)
c.995T>G (p.Ile332Arg)
c.650T>G (p.Ile217Arg)
c.617T>G (p.Ile206Arg)
18g.3457729T=CA2281035654TGIF1c.548T= (p.Ile183=)
c.608T= (p.Ile203=)
c.995T= (p.Ile332=)
c.650T= (p.Ile217=)
c.617T= (p.Ile206=)
18g.3457730A=CA2281035655TGIF1c.549A= (p.Ile183=)
c.609A= (p.Ile203=)
c.996A= (p.Ile332=)
c.651A= (p.Ile217=)
c.618A= (p.Ile206=)
18g.3457730A>CCA502810415TGIF1c.549A>C (p.Ile183=)
c.609A>C (p.Ile203=)
c.996A>C (p.Ile332=)
c.651A>C (p.Ile217=)
c.618A>C (p.Ile206=)
18g.3457730A>GCA8875993TGIF1c.549A>G (p.Ile183Met)
c.609A>G (p.Ile203Met)
c.996A>G (p.Ile332Met)
c.651A>G (p.Ile217Met)
c.618A>G (p.Ile206Met)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.3457730A>TCA502810416TGIF1c.549A>T (p.Ile183=)
c.609A>T (p.Ile203=)
c.996A>T (p.Ile332=)
c.651A>T (p.Ile217=)
c.618A>T (p.Ile206=)
18g.3457730_3457732delCA2810783807TGIF1c.549_551del (p.Ile183_Ala184delinsMet)
c.609_611del (p.Ile203_Ala204delinsMet)
c.996_998del (p.Ile332_Ala333delinsMet)
c.651_653del (p.Ile217_Ala218delinsMet)
c.618_620del (p.Ile206_Ala207delinsMet)
18g.3457731G>ACA401723869TGIF1c.550G>A (p.Ala184Thr)
c.610G>A (p.Ala204Thr)
c.997G>A (p.Ala333Thr)
c.652G>A (p.Ala218Thr)
c.619G>A (p.Ala207Thr)
18g.3457731G>CCA401723870TGIF1c.550G>C (p.Ala184Pro)
c.610G>C (p.Ala204Pro)
c.997G>C (p.Ala333Pro)
c.652G>C (p.Ala218Pro)
c.619G>C (p.Ala207Pro)
18g.3457731G>TCA401723871TGIF1c.550G>T (p.Ala184Ser)
c.610G>T (p.Ala204Ser)
c.997G>T (p.Ala333Ser)
c.652G>T (p.Ala218Ser)
c.619G>T (p.Ala207Ser)
18g.3457732C>ACA401723872TGIF1c.551C>A (p.Ala184Glu)
c.611C>A (p.Ala204Glu)
c.998C>A (p.Ala333Glu)
c.653C>A (p.Ala218Glu)
c.620C>A (p.Ala207Glu)
18g.3457732C=CA2281035656TGIF1c.551C= (p.Ala184=)
c.611C= (p.Ala204=)
c.998C= (p.Ala333=)
c.653C= (p.Ala218=)
c.620C= (p.Ala207=)
18g.3457732C>GCA401723873TGIF1c.551C>G (p.Ala184Gly)
c.611C>G (p.Ala204Gly)
c.998C>G (p.Ala333Gly)
c.653C>G (p.Ala218Gly)
c.620C>G (p.Ala207Gly)
18g.3457732C>TCA8875994TGIF1c.551C>T (p.Ala184Val)
c.611C>T (p.Ala204Val)
c.998C>T (p.Ala333Val)
c.653C>T (p.Ala218Val)
c.620C>T (p.Ala207Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.3457733G>ACA8875995TGIF1c.552G>A (p.Ala184=)
c.612G>A (p.Ala204=)
c.999G>A (p.Ala333=)
c.654G>A (p.Ala218=)
c.621G>A (p.Ala207=)
dbSNP ExAC gnomAD v2 gnomAD v4
18g.3457733G>CCA8875996TGIF1c.552G>C (p.Ala184=)
c.612G>C (p.Ala204=)
c.999G>C (p.Ala333=)
c.654G>C (p.Ala218=)
c.621G>C (p.Ala207=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.3457733G=CA2281035657TGIF1c.552G= (p.Ala184=)
c.612G= (p.Ala204=)
c.999G= (p.Ala333=)
c.654G= (p.Ala218=)
c.621G= (p.Ala207=)
18g.3457733G>TCA502810420TGIF1c.552G>T (p.Ala184=)
c.612G>T (p.Ala204=)
c.999G>T (p.Ala333=)
c.654G>T (p.Ala218=)
c.621G>T (p.Ala207=)
gnomAD v4
18g.3457734G>ACA8875997TGIF1c.553G>A (p.Ala185Thr)
c.613G>A (p.Ala205Thr)
c.1000G>A (p.Ala334Thr)
c.655G>A (p.Ala219Thr)
c.622G>A (p.Ala208Thr)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.3457734G>CCA401723874TGIF1c.553G>C (p.Ala185Pro)
c.613G>C (p.Ala205Pro)
c.1000G>C (p.Ala334Pro)
c.655G>C (p.Ala219Pro)
c.622G>C (p.Ala208Pro)
18g.3457734G=CA2281035658TGIF1c.553G= (p.Ala185=)
c.613G= (p.Ala205=)
c.1000G= (p.Ala334=)
c.655G= (p.Ala219=)
c.622G= (p.Ala208=)
18g.3457734G>TCA401723875TGIF1c.553G>T (p.Ala185Ser)
c.613G>T (p.Ala205Ser)
c.1000G>T (p.Ala334Ser)
c.655G>T (p.Ala219Ser)
c.622G>T (p.Ala208Ser)
18g.3457735C>ACA401723878TGIF1c.554C>A (p.Ala185Asp)
c.614C>A (p.Ala205Asp)
c.1001C>A (p.Ala334Asp)
c.656C>A (p.Ala219Asp)
c.623C>A (p.Ala208Asp)
18g.3457735C>GCA401723877TGIF1c.554C>G (p.Ala185Gly)
c.614C>G (p.Ala205Gly)
c.1001C>G (p.Ala334Gly)
c.656C>G (p.Ala219Gly)
c.623C>G (p.Ala208Gly)
18g.3457735C>TCA401723876TGIF1c.554C>T (p.Ala185Val)
c.614C>T (p.Ala205Val)
c.1001C>T (p.Ala334Val)
c.656C>T (p.Ala219Val)
c.623C>T (p.Ala208Val)
18g.3457736C>ACA502810424TGIF1c.555C>A (p.Ala185=)
c.615C>A (p.Ala205=)
c.1002C>A (p.Ala334=)
c.657C>A (p.Ala219=)
c.624C>A (p.Ala208=)
18g.3457736C>GCA502810425TGIF1c.555C>G (p.Ala185=)
c.615C>G (p.Ala205=)
c.1002C>G (p.Ala334=)
c.657C>G (p.Ala219=)
c.624C>G (p.Ala208=)
gnomAD v4
18g.3457736C>TCA502810426TGIF1c.555C>T (p.Ala185=)
c.615C>T (p.Ala205=)
c.1002C>T (p.Ala334=)
c.657C>T (p.Ala219=)
c.624C>T (p.Ala208=)
18g.3457737A>CCA401723879TGIF1c.556A>C (p.Lys186Gln)
c.616A>C (p.Lys206Gln)
c.1003A>C (p.Lys335Gln)
c.658A>C (p.Lys220Gln)
c.625A>C (p.Lys209Gln)
18g.3457737A>GCA401723881TGIF1c.556A>G (p.Lys186Glu)
c.616A>G (p.Lys206Glu)
c.1003A>G (p.Lys335Glu)
c.658A>G (p.Lys220Glu)
c.625A>G (p.Lys209Glu)
18g.3457737A>TCA401723880TGIF1c.556A>T (p.Lys186Ter)
c.616A>T (p.Lys206Ter)
c.1003A>T (p.Lys335Ter)
c.658A>T (p.Lys220Ter)
c.625A>T (p.Lys209Ter)
18g.3457741dupCA645599955TGIF1c.560dup (p.Asn187LysfsTer15)
c.620dup (p.Asn207LysfsTer15)
c.1007dup (p.Asn336LysfsTer15)
c.662dup (p.Asn221LysfsTer15)
c.629dup (p.Asn210LysfsTer15)
COSMIC COSMIC
18g.3457741delCA645599956TGIF1c.560del (p.Asn187ThrfsTer?)
c.620del (p.Asn207ThrfsTer?)
c.1007del (p.Asn336ThrfsTer?)
c.662del (p.Asn221ThrfsTer?)
c.629del (p.Asn210ThrfsTer?)
COSMIC COSMIC
18g.3457738A>CCA401723882TGIF1c.557A>C (p.Lys186Thr)
c.617A>C (p.Lys206Thr)
c.1004A>C (p.Lys335Thr)
c.659A>C (p.Lys220Thr)
c.626A>C (p.Lys209Thr)
18g.3457738A>GCA401723884TGIF1c.557A>G (p.Lys186Arg)
c.617A>G (p.Lys206Arg)
c.1004A>G (p.Lys335Arg)
c.659A>G (p.Lys220Arg)
c.626A>G (p.Lys209Arg)
gnomAD v4
18g.3457738A>TCA401723883TGIF1c.557A>T (p.Lys186Ile)
c.617A>T (p.Lys206Ile)
c.1004A>T (p.Lys335Ile)
c.659A>T (p.Lys220Ile)
c.626A>T (p.Lys209Ile)
18g.3457738_3457739insCCA2810783808TGIF1c.557_558insC (p.Lys186AsnfsTer16)
c.617_618insC (p.Lys206AsnfsTer16)
c.1004_1005insC (p.Lys335AsnfsTer16)
c.659_660insC (p.Lys220AsnfsTer16)
c.626_627insC (p.Lys209AsnfsTer16)
18g.3457739A>CCA401723885TGIF1c.558A>C (p.Lys186Asn)
c.618A>C (p.Lys206Asn)
c.1005A>C (p.Lys335Asn)
c.660A>C (p.Lys220Asn)
c.627A>C (p.Lys209Asn)
dbSNP
18g.3457739A>GCA502810428TGIF1c.558A>G (p.Lys186=)
c.618A>G (p.Lys206=)
c.1005A>G (p.Lys335=)
c.660A>G (p.Lys220=)
c.627A>G (p.Lys209=)
18g.3457739A>TCA401723886TGIF1c.558A>T (p.Lys186Asn)
c.618A>T (p.Lys206Asn)
c.1005A>T (p.Lys335Asn)
c.660A>T (p.Lys220Asn)
c.627A>T (p.Lys209Asn)
18g.3457739_3457740insGCCA2810783809TGIF1c.558_559insGC (p.Asn187AlafsTer?)
c.618_619insGC (p.Asn207AlafsTer?)
c.1005_1006insGC (p.Asn336AlafsTer?)
c.660_661insGC (p.Asn221AlafsTer?)
c.627_628insGC (p.Asn210AlafsTer?)
18g.3457740A>CCA401723887TGIF1c.559A>C (p.Asn187His)
c.619A>C (p.Asn207His)
c.1006A>C (p.Asn336His)
c.661A>C (p.Asn221His)
c.628A>C (p.Asn210His)
18g.3457740A>GCA401723889TGIF1c.559A>G (p.Asn187Asp)
c.619A>G (p.Asn207Asp)
c.1006A>G (p.Asn336Asp)
c.661A>G (p.Asn221Asp)
c.628A>G (p.Asn210Asp)
18g.3457740A>TCA401723888TGIF1c.559A>T (p.Asn187Tyr)
c.619A>T (p.Asn207Tyr)
c.1006A>T (p.Asn336Tyr)
c.661A>T (p.Asn221Tyr)
c.628A>T (p.Asn210Tyr)
18g.3457741A=CA2281035659TGIF1c.560A= (p.Asn187=)
c.620A= (p.Asn207=)
c.1007A= (p.Asn336=)
c.662A= (p.Asn221=)
c.629A= (p.Asn210=)
18g.3457741A>CCA401723890TGIF1c.560A>C (p.Asn187Thr)
c.620A>C (p.Asn207Thr)
c.1007A>C (p.Asn336Thr)
c.662A>C (p.Asn221Thr)
c.629A>C (p.Asn210Thr)
18g.3457741A>GCA8875998TGIF1c.560A>G (p.Asn187Ser)
c.620A>G (p.Asn207Ser)
c.1007A>G (p.Asn336Ser)
c.662A>G (p.Asn221Ser)
c.629A>G (p.Asn210Ser)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.3457741A>TCA401723891TGIF1c.560A>T (p.Asn187Ile)
c.620A>T (p.Asn207Ile)
c.1007A>T (p.Asn336Ile)
c.662A>T (p.Asn221Ile)
c.629A>T (p.Asn210Ile)
18g.3457742C>ACA401723892TGIF1c.561C>A (p.Asn187Lys)
c.621C>A (p.Asn207Lys)
c.1008C>A (p.Asn336Lys)
c.663C>A (p.Asn221Lys)
c.630C>A (p.Asn210Lys)
dbSNP
18g.3457742C=CA2281035660TGIF1c.561C= (p.Asn187=)
c.621C= (p.Asn207=)
c.1008C= (p.Asn336=)
c.663C= (p.Asn221=)
c.630C= (p.Asn210=)
18g.3457742C>GCA401723893TGIF1c.561C>G (p.Asn187Lys)
c.621C>G (p.Asn207Lys)
c.1008C>G (p.Asn336Lys)
c.663C>G (p.Asn221Lys)
c.630C>G (p.Asn210Lys)
18g.3457742C>TCA502810431TGIF1c.561C>T (p.Asn187=)
c.621C>T (p.Asn207=)
c.1008C>T (p.Asn336=)
c.663C>T (p.Asn221=)
c.630C>T (p.Asn210=)
18g.3457743T>ACA401723894TGIF1c.562T>A (p.Phe188Ile)
c.622T>A (p.Phe208Ile)
c.1009T>A (p.Phe337Ile)
c.664T>A (p.Phe222Ile)
c.631T>A (p.Phe211Ile)
18g.3457743T>CCA401723895TGIF1c.562T>C (p.Phe188Leu)
c.622T>C (p.Phe208Leu)
c.1009T>C (p.Phe337Leu)
c.664T>C (p.Phe222Leu)
c.631T>C (p.Phe211Leu)
COSMIC COSMIC
18g.3457743T>GCA401723896TGIF1c.562T>G (p.Phe188Val)
c.622T>G (p.Phe208Val)
c.1009T>G (p.Phe337Val)
c.664T>G (p.Phe222Val)
c.631T>G (p.Phe211Val)
18g.3457744T>ACA401723897TGIF1c.563T>A (p.Phe188Tyr)
c.623T>A (p.Phe208Tyr)
c.1010T>A (p.Phe337Tyr)
c.665T>A (p.Phe222Tyr)
c.632T>A (p.Phe211Tyr)
18g.3457744T>CCA401723898TGIF1c.563T>C (p.Phe188Ser)
c.623T>C (p.Phe208Ser)
c.1010T>C (p.Phe337Ser)
c.665T>C (p.Phe222Ser)
c.632T>C (p.Phe211Ser)
18g.3457744T>GCA401723899TGIF1c.563T>G (p.Phe188Cys)
c.623T>G (p.Phe208Cys)
c.1010T>G (p.Phe337Cys)
c.665T>G (p.Phe222Cys)
c.632T>G (p.Phe211Cys)
18g.3457745C>ACA401723900TGIF1c.564C>A (p.Phe188Leu)
c.624C>A (p.Phe208Leu)
c.1011C>A (p.Phe337Leu)
c.666C>A (p.Phe222Leu)
c.633C>A (p.Phe211Leu)
gnomAD v4
18g.3457745C=CA2281035661TGIF1c.564C= (p.Phe188=)
c.624C= (p.Phe208=)
c.1011C= (p.Phe337=)
c.666C= (p.Phe222=)
c.633C= (p.Phe211=)
18g.3457745C>GCA8875999TGIF1c.564C>G (p.Phe188Leu)
c.624C>G (p.Phe208Leu)
c.1011C>G (p.Phe337Leu)
c.666C>G (p.Phe222Leu)
c.633C>G (p.Phe211Leu)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.3457745C>TCA502810434TGIF1c.564C>T (p.Phe188=)
c.624C>T (p.Phe208=)
c.1011C>T (p.Phe337=)
c.666C>T (p.Phe222=)
c.633C>T (p.Phe211=)
gnomAD v4
18g.3457746A>CCA401723901TGIF1c.565A>C (p.Thr189Pro)
c.625A>C (p.Thr209Pro)
c.1012A>C (p.Thr338Pro)
c.667A>C (p.Thr223Pro)
c.634A>C (p.Thr212Pro)
18g.3457746A>GCA401723902TGIF1c.565A>G (p.Thr189Ala)
c.625A>G (p.Thr209Ala)
c.1012A>G (p.Thr338Ala)
c.667A>G (p.Thr223Ala)
c.634A>G (p.Thr212Ala)
gnomAD v4
18g.3457746A>TCA401723903TGIF1c.565A>T (p.Thr189Ser)
c.625A>T (p.Thr209Ser)
c.1012A>T (p.Thr338Ser)
c.667A>T (p.Thr223Ser)
c.634A>T (p.Thr212Ser)
18g.3457747C>ACA401723906TGIF1c.566C>A (p.Thr189Lys)
c.626C>A (p.Thr209Lys)
c.1013C>A (p.Thr338Lys)
c.668C>A (p.Thr223Lys)
c.635C>A (p.Thr212Lys)
18g.3457747C>GCA401723904TGIF1c.566C>G (p.Thr189Arg)
c.626C>G (p.Thr209Arg)
c.1013C>G (p.Thr338Arg)
c.668C>G (p.Thr223Arg)
c.635C>G (p.Thr212Arg)
18g.3457747C>TCA401723905TGIF1c.566C>T (p.Thr189Ile)
c.626C>T (p.Thr209Ile)
c.1013C>T (p.Thr338Ile)
c.668C>T (p.Thr223Ile)
c.635C>T (p.Thr212Ile)
18g.3457748A=CA2281035662TGIF1c.567A= (p.Thr189=)
c.627A= (p.Thr209=)
c.1014A= (p.Thr338=)
c.669A= (p.Thr223=)
c.636A= (p.Thr212=)
18g.3457748A>CCA502810437TGIF1c.567A>C (p.Thr189=)
c.627A>C (p.Thr209=)
c.1014A>C (p.Thr338=)
c.669A>C (p.Thr223=)
c.636A>C (p.Thr212=)
gnomAD v4
18g.3457748A>GCA502810438TGIF1c.567A>G (p.Thr189=)
c.627A>G (p.Thr209=)
c.1014A>G (p.Thr338=)
c.669A>G (p.Thr223=)
c.636A>G (p.Thr212=)
dbSNP gnomAD v4
18g.3457748A>TCA502810439TGIF1c.567A>T (p.Thr189=)
c.627A>T (p.Thr209=)
c.1014A>T (p.Thr338=)
c.669A>T (p.Thr223=)
c.636A>T (p.Thr212=)
18g.3457749G>ACA401723907TGIF1c.568G>A (p.Asp190Asn)
c.628G>A (p.Asp210Asn)
c.1015G>A (p.Asp339Asn)
c.670G>A (p.Asp224Asn)
c.637G>A (p.Asp213Asn)
18g.3457749G>CCA401723908TGIF1c.568G>C (p.Asp190His)
c.628G>C (p.Asp210His)
c.1015G>C (p.Asp339His)
c.670G>C (p.Asp224His)
c.637G>C (p.Asp213His)
18g.3457749G>TCA401723909TGIF1c.568G>T (p.Asp190Tyr)
c.628G>T (p.Asp210Tyr)
c.1015G>T (p.Asp339Tyr)
c.670G>T (p.Asp224Tyr)
c.637G>T (p.Asp213Tyr)
18g.3457750A=CA2281035663TGIF1c.569A= (p.Asp190=)
c.629A= (p.Asp210=)
c.1016A= (p.Asp339=)
c.671A= (p.Asp224=)
c.638A= (p.Asp213=)
18g.3457750A>CCA401723910TGIF1c.569A>C (p.Asp190Ala)
c.629A>C (p.Asp210Ala)
c.1016A>C (p.Asp339Ala)
c.671A>C (p.Asp224Ala)
c.638A>C (p.Asp213Ala)
18g.3457750A>GCA401723911TGIF1c.569A>G (p.Asp190Gly)
c.629A>G (p.Asp210Gly)
c.1016A>G (p.Asp339Gly)
c.671A>G (p.Asp224Gly)
c.638A>G (p.Asp213Gly)
18g.3457750A>TCA8876000TGIF1c.569A>T (p.Asp190Val)
c.629A>T (p.Asp210Val)
c.1016A>T (p.Asp339Val)
c.671A>T (p.Asp224Val)
c.638A>T (p.Asp213Val)
dbSNP ExAC gnomAD v2 gnomAD v4
18g.3457751C>ACA401723912TGIF1c.570C>A (p.Asp190Glu)
c.630C>A (p.Asp210Glu)
c.1017C>A (p.Asp339Glu)
c.672C>A (p.Asp224Glu)
c.639C>A (p.Asp213Glu)
18g.3457751C>GCA401723913TGIF1c.570C>G (p.Asp190Glu)
c.630C>G (p.Asp210Glu)
c.1017C>G (p.Asp339Glu)
c.672C>G (p.Asp224Glu)
c.639C>G (p.Asp213Glu)
18g.3457751C>TCA502810444TGIF1c.570C>T (p.Asp190=)
c.630C>T (p.Asp210=)
c.1017C>T (p.Asp339=)
c.672C>T (p.Asp224=)
c.639C>T (p.Asp213=)

Number of alleles fetched