Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.154367706T>A | CA415248877 | FLNA | c.655A>T (p.Ser219Cys) c.574A>T (p.Ser192Cys) c.613A>T (p.Ser205Cys) | |
X | g.154367706T>C | CA415248878 | FLNA | c.655A>G (p.Ser219Gly) c.574A>G (p.Ser192Gly) c.613A>G (p.Ser205Gly) | |
X | g.154367706T>G | CA415248879 | FLNA | c.655A>C (p.Ser219Arg) c.574A>C (p.Ser192Arg) c.613A>C (p.Ser205Arg) | |
X | g.154367707G>A | CA519709653 | FLNA | c.654C>T (p.Ala218=) c.573C>T (p.Ala191=) c.612C>T (p.Ala204=) | |
X | g.154367707G>C | CA519709654 | FLNA | c.654C>G (p.Ala218=) c.573C>G (p.Ala191=) c.612C>G (p.Ala204=) | dbSNP gnomAD v2 gnomAD v4 |
X | g.154367707G= | CA2466658982 | FLNA | c.654C= (p.Ala218=) c.573C= (p.Ala191=) c.612C= (p.Ala204=) | |
X | g.154367707G>T | CA519709655 | FLNA | c.654C>A (p.Ala218=) c.573C>A (p.Ala191=) c.612C>A (p.Ala204=) | |
X | g.154367708G>A | CA415248880 | FLNA | c.653C>T (p.Ala218Val) c.572C>T (p.Ala191Val) c.611C>T (p.Ala204Val) | |
X | g.154367708G>C | CA415248881 | FLNA | c.653C>G (p.Ala218Gly) c.572C>G (p.Ala191Gly) c.611C>G (p.Ala204Gly) | |
X | g.154367708G>T | CA415248882 | FLNA | c.653C>A (p.Ala218Asp) c.572C>A (p.Ala191Asp) c.611C>A (p.Ala204Asp) | |
X | g.154367709C>A | CA415248883 | FLNA | c.652G>T (p.Ala218Ser) c.571G>T (p.Ala191Ser) c.610G>T (p.Ala204Ser) | dbSNP gnomAD v2 |
X | g.154367709C= | CA2466658983 | FLNA | c.652G= (p.Ala218=) c.571G= (p.Ala191=) c.610G= (p.Ala204=) | |
X | g.154367709C>G | CA415248884 | FLNA | c.652G>C (p.Ala218Pro) c.571G>C (p.Ala191Pro) c.610G>C (p.Ala204Pro) | gnomAD v4 |
X | g.154367709C>T | CA10561381 | FLNA | c.652G>A (p.Ala218Thr) c.571G>A (p.Ala191Thr) c.610G>A (p.Ala204Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.154367710G>A | CA10561382 | FLNA | c.651C>T (p.Asp217=) c.570C>T (p.Asp190=) c.609C>T (p.Asp203=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.154367710G>C | CA415248885 | FLNA | c.651C>G (p.Asp217Glu) c.570C>G (p.Asp190Glu) c.609C>G (p.Asp203Glu) | |
X | g.154367710G= | CA2466658984 | FLNA | c.651C= (p.Asp217=) c.570C= (p.Asp190=) c.609C= (p.Asp203=) | |
X | g.154367710G>T | CA415248886 | FLNA | c.651C>A (p.Asp217Glu) c.570C>A (p.Asp190Glu) c.609C>A (p.Asp203Glu) | |
X | g.154367711T>A | CA415248887 | FLNA | c.650A>T (p.Asp217Val) c.569A>T (p.Asp190Val) c.608A>T (p.Asp203Val) | |
X | g.154367711T>C | CA415248888 | FLNA | c.650A>G (p.Asp217Gly) c.569A>G (p.Asp190Gly) c.608A>G (p.Asp203Gly) | |
X | g.154367711T>G | CA415248889 | FLNA | c.650A>C (p.Asp217Ala) c.569A>C (p.Asp190Ala) c.608A>C (p.Asp203Ala) | |
X | g.154367712C>A | CA415248890 | FLNA | c.649G>T (p.Asp217Tyr) c.568G>T (p.Asp190Tyr) c.607G>T (p.Asp203Tyr) | |
X | g.154367712C= | CA2466658985 | FLNA | c.649G= (p.Asp217=) c.568G= (p.Asp190=) c.607G= (p.Asp203=) | |
X | g.154367712C>G | CA415248891 | FLNA | c.649G>C (p.Asp217His) c.568G>C (p.Asp190His) c.607G>C (p.Asp203His) | |
X | g.154367712C>T | CA415248892 | FLNA | c.649G>A (p.Asp217Asn) c.568G>A (p.Asp190Asn) c.607G>A (p.Asp203Asn) | dbSNP gnomAD v2 gnomAD v4 |
X | g.154367714del | CA2579738362 | FLNA | c.649del (p.Asp217ThrfsTer25) c.568del (p.Asp190ThrfsTer25) c.607del (p.Asp203ThrfsTer25) | |
X | g.154367713C>A | CA415248894 | FLNA | c.648G>T (p.Trp216Cys) c.567G>T (p.Trp189Cys) c.606G>T (p.Trp202Cys) | |
X | g.154367713C>G | CA415248895 | FLNA | c.648G>C (p.Trp216Cys) c.567G>C (p.Trp189Cys) c.606G>C (p.Trp202Cys) | |
X | g.154367713C>T | CA415248893 | FLNA | c.648G>A (p.Trp216Ter) c.567G>A (p.Trp189Ter) c.606G>A (p.Trp202Ter) | |
X | g.154367714C>A | CA415248896 | FLNA | c.647G>T (p.Trp216Leu) c.566G>T (p.Trp189Leu) c.605G>T (p.Trp202Leu) | |
X | g.154367714C>G | CA415248897 | FLNA | c.647G>C (p.Trp216Ser) c.566G>C (p.Trp189Ser) c.605G>C (p.Trp202Ser) | |
X | g.154367714C>T | CA415248898 | FLNA | c.647G>A (p.Trp216Ter) c.566G>A (p.Trp189Ter) c.605G>A (p.Trp202Ter) | |
X | g.154367715A>C | CA415248899 | FLNA | c.646T>G (p.Trp216Gly) c.565T>G (p.Trp189Gly) c.604T>G (p.Trp202Gly) | |
X | g.154367715A>G | CA415248900 | FLNA | c.646T>C (p.Trp216Arg) c.565T>C (p.Trp189Arg) c.604T>C (p.Trp202Arg) | |
X | g.154367715A>T | CA415248901 | FLNA | c.646T>A (p.Trp216Arg) c.565T>A (p.Trp189Arg) c.604T>A (p.Trp202Arg) | |
X | g.154367716A= | CA2466658986 | FLNA | c.645T= (p.Ser215=) c.564T= (p.Ser188=) c.603T= (p.Ser201=) | |
X | g.154367716A>C | CA519709685 | FLNA | c.645T>G (p.Ser215=) c.564T>G (p.Ser188=) c.603T>G (p.Ser201=) | |
X | g.154367716A>G | CA519709686 | FLNA | c.645T>C (p.Ser215=) c.564T>C (p.Ser188=) c.603T>C (p.Ser201=) | dbSNP |
X | g.154367716A>T | CA519709687 | FLNA | c.645T>A (p.Ser215=) c.564T>A (p.Ser188=) c.603T>A (p.Ser201=) | dbSNP |
X | g.154367717G>A | CA415248902 | FLNA | c.644C>T (p.Ser215Phe) c.563C>T (p.Ser188Phe) c.602C>T (p.Ser201Phe) | |
X | g.154367717G>C | CA415248903 | FLNA | c.644C>G (p.Ser215Cys) c.563C>G (p.Ser188Cys) c.602C>G (p.Ser201Cys) | |
X | g.154367717G= | CA2466658987 | FLNA | c.644C= (p.Ser215=) c.563C= (p.Ser188=) c.602C= (p.Ser201=) | |
X | g.154367717G>T | CA415248904 | FLNA | c.644C>A (p.Ser215Tyr) c.563C>A (p.Ser188Tyr) c.602C>A (p.Ser201Tyr) | dbSNP |
X | g.154367718A>C | CA415248905 | FLNA | c.643T>G (p.Ser215Ala) c.562T>G (p.Ser188Ala) c.601T>G (p.Ser201Ala) | |
X | g.154367718A>G | CA415248906 | FLNA | c.643T>C (p.Ser215Pro) c.562T>C (p.Ser188Pro) c.601T>C (p.Ser201Pro) | |
X | g.154367718A>T | CA415248907 | FLNA | c.643T>A (p.Ser215Thr) c.562T>A (p.Ser188Thr) c.601T>A (p.Ser201Thr) | |
X | g.154367719G>A | CA519709698 | FLNA | c.642C>T (p.Asp214=) c.561C>T (p.Asp187=) c.600C>T (p.Asp200=) | |
X | g.154367719G>C | CA415248908 | FLNA | c.642C>G (p.Asp214Glu) c.561C>G (p.Asp187Glu) c.600C>G (p.Asp200Glu) | |
X | g.154367719G>T | CA415248909 | FLNA | c.642C>A (p.Asp214Glu) c.561C>A (p.Asp187Glu) c.600C>A (p.Asp200Glu) | |
X | g.154367720T>A | CA415248910 | FLNA | c.641A>T (p.Asp214Val) c.560A>T (p.Asp187Val) c.599A>T (p.Asp200Val) | |
X | g.154367720T>C | CA415248911 | FLNA | c.641A>G (p.Asp214Gly) c.560A>G (p.Asp187Gly) c.599A>G (p.Asp200Gly) | ClinVar dbSNP |
X | g.154367720T>G | CA415248912 | FLNA | c.641A>C (p.Asp214Ala) c.560A>C (p.Asp187Ala) c.599A>C (p.Asp200Ala) | |
X | g.154367721C>A | CA415248913 | FLNA | c.640G>T (p.Asp214Tyr) c.559G>T (p.Asp187Tyr) c.598G>T (p.Asp200Tyr) | |
X | g.154367721C>G | CA415248914 | FLNA | c.640G>C (p.Asp214His) c.559G>C (p.Asp187His) c.598G>C (p.Asp200His) | |
X | g.154367721C>T | CA415248915 | FLNA | c.640G>A (p.Asp214Asn) c.559G>A (p.Asp187Asn) c.598G>A (p.Asp200Asn) | |
X | g.154367722C>A | CA415248916 | FLNA | c.639G>T (p.Trp213Cys) c.558G>T (p.Trp186Cys) c.597G>T (p.Trp199Cys) | |
X | g.154367722C>G | CA415248917 | FLNA | c.639G>C (p.Trp213Cys) c.558G>C (p.Trp186Cys) c.597G>C (p.Trp199Cys) | |
X | g.154367722C>T | CA415248918 | FLNA | c.639G>A (p.Trp213Ter) c.558G>A (p.Trp186Ter) c.597G>A (p.Trp199Ter) | |
X | g.154367723C>A | CA415248919 | FLNA | c.638G>T (p.Trp213Leu) c.557G>T (p.Trp186Leu) c.596G>T (p.Trp199Leu) | |
X | g.154367723C>G | CA415248920 | FLNA | c.638G>C (p.Trp213Ser) c.557G>C (p.Trp186Ser) c.596G>C (p.Trp199Ser) | |
X | g.154367723C>T | CA415248921 | FLNA | c.638G>A (p.Trp213Ter) c.557G>A (p.Trp186Ter) c.596G>A (p.Trp199Ter) | |
X | g.154367724A>C | CA415248923 | FLNA | c.637T>G (p.Trp213Gly) c.556T>G (p.Trp186Gly) c.595T>G (p.Trp199Gly) | |
X | g.154367724A>G | CA415248924 | FLNA | c.637T>C (p.Trp213Arg) c.556T>C (p.Trp186Arg) c.595T>C (p.Trp199Arg) | |
X | g.154367724A>T | CA415248922 | FLNA | c.637T>A (p.Trp213Arg) c.556T>A (p.Trp186Arg) c.595T>A (p.Trp199Arg) | |
X | g.154367725G>A | CA519709710 | FLNA | c.636C>T (p.Asp212=) c.555C>T (p.Asp185=) c.594C>T (p.Asp198=) | gnomAD v4 |
X | g.154367725G>C | CA415248925 | FLNA | c.636C>G (p.Asp212Glu) c.555C>G (p.Asp185Glu) c.594C>G (p.Asp198Glu) | |
X | g.154367725G>T | CA415248926 | FLNA | c.636C>A (p.Asp212Glu) c.555C>A (p.Asp185Glu) c.594C>A (p.Asp198Glu) | gnomAD v4 |
X | g.154367726T>A | CA415248927 | FLNA | c.635A>T (p.Asp212Val) c.554A>T (p.Asp185Val) c.593A>T (p.Asp198Val) | |
X | g.154367726T>C | CA415248928 | FLNA | c.635A>G (p.Asp212Gly) c.554A>G (p.Asp185Gly) c.593A>G (p.Asp198Gly) | |
X | g.154367726T>G | CA415248929 | FLNA | c.635A>C (p.Asp212Ala) c.554A>C (p.Asp185Ala) c.593A>C (p.Asp198Ala) | |
X | g.154367727C>A | CA415248930 | FLNA | c.634G>T (p.Asp212Tyr) c.553G>T (p.Asp185Tyr) c.592G>T (p.Asp198Tyr) | |
X | g.154367727C>G | CA415248931 | FLNA | c.634G>C (p.Asp212His) c.553G>C (p.Asp185His) c.592G>C (p.Asp198His) | gnomAD v4 |
X | g.154367727C>T | CA415248932 | FLNA | c.634G>A (p.Asp212Asn) c.553G>A (p.Asp185Asn) c.592G>A (p.Asp198Asn) | |
X | g.154367728A>C | CA519709727 | FLNA | c.633T>G (p.Pro211=) c.552T>G (p.Pro184=) c.591T>G (p.Pro197=) | |
X | g.154367728A>G | CA519709723 | FLNA | c.633T>C (p.Pro211=) c.552T>C (p.Pro184=) c.591T>C (p.Pro197=) | |
X | g.154367728A>T | CA519709725 | FLNA | c.633T>A (p.Pro211=) c.552T>A (p.Pro184=) c.591T>A (p.Pro197=) | |
X | g.154367729G>A | CA415248933 | FLNA | c.632C>T (p.Pro211Leu) c.551C>T (p.Pro184Leu) c.590C>T (p.Pro197Leu) | |
X | g.154367729G>C | CA16043290 | FLNA | c.632C>G (p.Pro211Arg) c.551C>G (p.Pro184Arg) c.590C>G (p.Pro197Arg) | ClinVar dbSNP |
X | g.154367729G= | CA2466658988 | FLNA | c.632C= (p.Pro211=) c.551C= (p.Pro184=) c.590C= (p.Pro197=) | |
X | g.154367729G>T | CA415248934 | FLNA | c.632C>A (p.Pro211His) c.551C>A (p.Pro184His) c.590C>A (p.Pro197His) | |
X | g.154367730G>A | CA415248935 | FLNA | c.631C>T (p.Pro211Ser) c.550C>T (p.Pro184Ser) c.589C>T (p.Pro197Ser) | |
X | g.154367730G>C | CA415248936 | FLNA | c.631C>G (p.Pro211Ala) c.550C>G (p.Pro184Ala) c.589C>G (p.Pro197Ala) | |
X | g.154367730G>T | CA415248937 | FLNA | c.631C>A (p.Pro211Thr) c.550C>A (p.Pro184Thr) c.589C>A (p.Pro197Thr) | |
X | g.154367731A>C | CA415248938 | FLNA | c.630T>G (p.Cys210Trp) c.549T>G (p.Cys183Trp) c.588T>G (p.Cys196Trp) | |
X | g.154367731A>G | CA519709740 | FLNA | c.630T>C (p.Cys210=) c.549T>C (p.Cys183=) c.588T>C (p.Cys196=) | |
X | g.154367731A>T | CA415248939 | FLNA | c.630T>A (p.Cys210Ter) c.549T>A (p.Cys183Ter) c.588T>A (p.Cys196Ter) | |
X | g.154367734_154367735del | CA2695236982 | FLNA | c.629_630del (p.Cys210SerfsTer2) c.548_549del (p.Cys183SerfsTer2) c.587_588del (p.Cys196SerfsTer2) | |
X | g.154367732C>A | CA256064 | FLNA | c.629G>T (p.Cys210Phe) c.548G>T (p.Cys183Phe) c.587G>T (p.Cys196Phe) | ClinVar dbSNP |
X | g.154367732C= | CA2466658989 | FLNA | c.629G= (p.Cys210=) c.548G= (p.Cys183=) c.587G= (p.Cys196=) | |
X | g.154367732C>G | CA415248940 | FLNA | c.629G>C (p.Cys210Ser) c.548G>C (p.Cys183Ser) c.587G>C (p.Cys196Ser) | |
X | g.154367732C>T | CA415248941 | FLNA | c.629G>A (p.Cys210Tyr) c.548G>A (p.Cys183Tyr) c.587G>A (p.Cys196Tyr) | |
X | g.154367733A>C | CA415248942 | FLNA | c.628T>G (p.Cys210Gly) c.547T>G (p.Cys183Gly) c.586T>G (p.Cys196Gly) | |
X | g.154367733A>G | CA415248943 | FLNA | c.628T>C (p.Cys210Arg) c.547T>C (p.Cys183Arg) c.586T>C (p.Cys196Arg) | |
X | g.154367733A>T | CA415248944 | FLNA | c.628T>A (p.Cys210Ser) c.547T>A (p.Cys183Ser) c.586T>A (p.Cys196Ser) | |
X | g.154367734C>A | CA519709749 | FLNA | c.627G>T (p.Leu209=) c.546G>T (p.Leu182=) c.585G>T (p.Leu195=) | |
X | g.154367734C= | CA2466658990 | FLNA | c.627G= (p.Leu209=) c.546G= (p.Leu182=) c.585G= (p.Leu195=) | |
X | g.154367734C>G | CA519709750 | FLNA | c.627G>C (p.Leu209=) c.546G>C (p.Leu182=) c.585G>C (p.Leu195=) | |
X | g.154367734C>T | CA10561383 | FLNA | c.627G>A (p.Leu209=) c.546G>A (p.Leu182=) c.585G>A (p.Leu195=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.154367735A>C | CA415248945 | FLNA | c.626T>G (p.Leu209Arg) c.545T>G (p.Leu182Arg) c.584T>G (p.Leu195Arg) | |
X | g.154367735A>G | CA415248946 | FLNA | c.626T>C (p.Leu209Pro) c.545T>C (p.Leu182Pro) c.584T>C (p.Leu195Pro) | |
X | g.154367735A>T | CA415248947 | FLNA | c.626T>A (p.Leu209Gln) c.545T>A (p.Leu182Gln) c.584T>A (p.Leu195Gln) | |
X | g.154367736G>A | CA519709758 | FLNA | c.625C>T (p.Leu209=) c.544C>T (p.Leu182=) c.583C>T (p.Leu195=) | |
X | g.154367736G>C | CA415248948 | FLNA | c.625C>G (p.Leu209Val) c.544C>G (p.Leu182Val) c.583C>G (p.Leu195Val) | |
X | g.154367736G>T | CA415248949 | FLNA | c.625C>A (p.Leu209Met) c.544C>A (p.Leu182Met) c.583C>A (p.Leu195Met) | |
X | g.154367737G>A | CA519709765 | FLNA | c.624C>T (p.Gly208=) c.543C>T (p.Gly181=) c.582C>T (p.Gly194=) | |
X | g.154367737G>C | CA519709766 | FLNA | c.624C>G (p.Gly208=) c.543C>G (p.Gly181=) c.582C>G (p.Gly194=) | |
X | g.154367737G>T | CA519709770 | FLNA | c.624C>A (p.Gly208=) c.543C>A (p.Gly181=) c.582C>A (p.Gly194=) | |
X | g.154367738C>A | CA415248950 | FLNA | c.623G>T (p.Gly208Val) c.542G>T (p.Gly181Val) c.581G>T (p.Gly194Val) | |
X | g.154367738C>G | CA415248952 | FLNA | c.623G>C (p.Gly208Ala) c.542G>C (p.Gly181Ala) c.581G>C (p.Gly194Ala) | |
X | g.154367738C>T | CA415248951 | FLNA | c.623G>A (p.Gly208Asp) c.542G>A (p.Gly181Asp) c.581G>A (p.Gly194Asp) | |
X | g.154367740_154367842del | CA519709779 | FLNA | c.622+2_623del c.541+2_542del c.580+2_581del | |
X | g.154367739C>A | CA415248953 | FLNA | c.623-1G>T (n.623-1G>T) c.542-1G>T (n.542-1G>T) c.581-1G>T (n.581-1G>T) | |
X | g.154367739C>G | CA415248954 | FLNA | c.623-1G>C (n.623-1G>C) c.542-1G>C (n.542-1G>C) c.581-1G>C (n.581-1G>C) | |
X | g.154367739C>T | CA415248955 | FLNA | c.623-1G>A (n.623-1G>A) c.542-1G>A (n.542-1G>A) c.581-1G>A (n.581-1G>A) | |
X | g.154367740T>A | CA415248956 | FLNA | c.623-2A>T (n.623-2A>T) c.542-2A>T (n.542-2A>T) c.581-2A>T (n.581-2A>T) | |
X | g.154367740T>C | CA337284275 | FLNA | c.623-2A>G (n.623-2A>G) c.542-2A>G (n.542-2A>G) c.581-2A>G (n.581-2A>G) | ClinVar dbSNP |
X | g.154367740T>G | CA415248957 | FLNA | c.623-2A>C (n.623-2A>C) c.542-2A>C (n.542-2A>C) c.581-2A>C (n.581-2A>C) | |
X | g.154367740T= | CA2466658991 | FLNA | c.623-2A= (n.623-2A=) c.542-2A= (n.542-2A=) c.581-2A= (n.581-2A=) | |
X | g.154367741G>C | CA221727 | FLNA | c.623-3C>G (n.623-3C>G) c.542-3C>G (n.542-3C>G) c.581-3C>G (n.581-3C>G) | ClinVar dbSNP |
X | g.154367741G= | CA2466658992 | FLNA | c.623-3C= (n.623-3C=) c.542-3C= (n.542-3C=) c.581-3C= (n.581-3C=) | |
X | g.154367743G>A | CA337284290 | FLNA | c.623-5C>T (n.623-5C>T) c.542-5C>T (n.542-5C>T) c.581-5C>T (n.581-5C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.154367743G= | CA2466658993 | FLNA | c.623-5C= (n.623-5C=) c.542-5C= (n.542-5C=) c.581-5C= (n.581-5C=) | |
X | g.154367745C= | CA2466658994 | FLNA | c.623-7G= (n.623-7G=) c.542-7G= (n.542-7G=) c.581-7G= (n.581-7G=) | |
X | g.154367745C>G | CA2573159435 | FLNA | c.623-7G>C (n.623-7G>C) c.542-7G>C (n.542-7G>C) c.581-7G>C (n.581-7G>C) | ClinVar dbSNP gnomAD v4 |
X | g.154367745C>T | CA245194 | FLNA | c.623-7G>A (n.623-7G>A) c.542-7G>A (n.542-7G>A) c.581-7G>A (n.581-7G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.154367746G>A | CA645290446 | FLNA | c.623-8C>T (n.623-8C>T) c.542-8C>T (n.542-8C>T) c.581-8C>T (n.581-8C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.154367746G>C | CA337284299 | FLNA | c.623-8C>G (n.623-8C>G) c.542-8C>G (n.542-8C>G) c.581-8C>G (n.581-8C>G) | dbSNP |
X | g.154367746G= | CA2466658995 | FLNA | c.623-8C= (n.623-8C=) c.542-8C= (n.542-8C=) c.581-8C= (n.581-8C=) | |
X | g.154367746G>T | CA1139667849 | FLNA | c.623-8C>A (n.623-8C>A) c.542-8C>A (n.542-8C>A) c.581-8C>A (n.581-8C>A) | ClinVar dbSNP |
X | g.154367747C>G | CA2695082980 | FLNA | c.623-9G>C (n.623-9G>C) c.542-9G>C (n.542-9G>C) c.581-9G>C (n.581-9G>C) | gnomAD v4 |
X | g.154367748A= | CA2466658997 | FLNA | c.623-10T= (n.623-10T=) c.542-10T= (n.542-10T=) c.581-10T= (n.581-10T=) | |
X | g.154367748A>T | CA2466658996 | FLNA | c.623-10T>A (n.623-10T>A) c.542-10T>A (n.542-10T>A) c.581-10T>A (n.581-10T>A) | ClinVar dbSNP |
X | g.154367749A>C | CA2824282192 | FLNA | c.623-11T>G (n.623-11T>G) c.542-11T>G (n.542-11T>G) c.581-11T>G (n.581-11T>G) | |
X | g.154367749_154367758delinsAGGGAGGCTG | CA2466658998 | FLNA | c.623-20_623-11delinsCAGCCTCCCT (n.623-20_623-11delinsCAGCCTCCCT) c.542-20_542-11delinsCAGCCTCCCT (n.542-20_542-11delinsCAGCCTCCCT) c.581-20_581-11delinsCAGCCTCCCT (n.581-20_581-11delinsCAGCCTCCCT) | |
X | g.154367750G>A | CA2573159436 | FLNA | c.623-12C>T (n.623-12C>T) c.542-12C>T (n.542-12C>T) c.581-12C>T (n.581-12C>T) | ClinVar dbSNP |
X | g.154367750G>C | CA2695082981 | FLNA | c.623-12C>G (n.623-12C>G) c.542-12C>G (n.542-12C>G) c.581-12C>G (n.581-12C>G) | gnomAD v4 |
X | g.154367750_154367758del | CA274745 | FLNA | c.623-20_623-12del (n.623-20_623-12del) c.542-20_542-12del (n.542-20_542-12del) c.581-20_581-12del (n.581-20_581-12del) | ClinVar dbSNP |
X | g.154367754G>A | CA2695082982 | FLNA | c.623-16C>T (n.623-16C>T) c.542-16C>T (n.542-16C>T) c.581-16C>T (n.581-16C>T) | gnomAD v4 |
X | g.154367756_154367758delinsCTG | CA2466658999 | FLNA | c.623-20_623-18delinsCAG (n.623-20_623-18delinsCAG) c.542-20_542-18delinsCAG (n.542-20_542-18delinsCAG) c.581-20_581-18delinsCAG (n.581-20_581-18delinsCAG) | |
X | g.154367759_154367760del | CA2466659000 | FLNA | c.623-20_623-19del (n.623-20_623-19del) c.542-20_542-19del (n.542-20_542-19del) c.581-20_581-19del (n.581-20_581-19del) | dbSNP |
X | g.154367760G>A | CA2466659002 | FLNA | c.623-22C>T (n.623-22C>T) c.542-22C>T (n.542-22C>T) c.581-22C>T (n.581-22C>T) | dbSNP |
X | g.154367760G= | CA2466659001 | FLNA | c.623-22C= (n.623-22C=) c.542-22C= (n.542-22C=) c.581-22C= (n.581-22C=) | |
X | g.154367762G>A | CA2695082983 | FLNA | c.623-24C>T (n.623-24C>T) c.542-24C>T (n.542-24C>T) c.581-24C>T (n.581-24C>T) | gnomAD v4 |
X | g.154367763T>A | CA10561384 | FLNA | c.623-25A>T (n.623-25A>T) c.542-25A>T (n.542-25A>T) c.581-25A>T (n.581-25A>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.154367763T= | CA2466659003 | FLNA | c.623-25A= (n.623-25A=) c.542-25A= (n.542-25A=) c.581-25A= (n.581-25A=) | |
X | g.154367766G>C | CA1138571931 | FLNA | c.623-28C>G (n.623-28C>G) c.542-28C>G (n.542-28C>G) c.581-28C>G (n.581-28C>G) | dbSNP gnomAD v3 gnomAD v4 |
X | g.154367766G= | CA2466659004 | FLNA | c.623-28C= (n.623-28C=) c.542-28C= (n.542-28C=) c.581-28C= (n.581-28C=) | |
X | g.154367770del | CA2579738363 | FLNA | c.623-28del (n.623-28del) c.542-28del (n.542-28del) c.581-28del (n.581-28del) | gnomAD v4 |
X | g.154367767G>A | CA2695082984 | FLNA | c.623-29C>T (n.623-29C>T) c.542-29C>T (n.542-29C>T) c.581-29C>T (n.581-29C>T) | gnomAD v4 |
X | g.154367768G>C | CA2695082985 | FLNA | c.623-30C>G (n.623-30C>G) c.542-30C>G (n.542-30C>G) c.581-30C>G (n.581-30C>G) | gnomAD v4 |
X | g.154367769G>A | CA873345202 | FLNA | c.623-31C>T (n.623-31C>T) c.542-31C>T (n.542-31C>T) c.581-31C>T (n.581-31C>T) | dbSNP gnomAD v3 gnomAD v4 |
X | g.154367769G= | CA2466659005 | FLNA | c.623-31C= (n.623-31C=) c.542-31C= (n.542-31C=) c.581-31C= (n.581-31C=) | |
X | g.154367770G= | CA2466659007 | FLNA | c.623-32C= (n.623-32C=) c.542-32C= (n.542-32C=) c.581-32C= (n.581-32C=) | |
X | g.154367770G>T | CA645290447 | FLNA | c.623-32C>A (n.623-32C>A) c.542-32C>A (n.542-32C>A) c.581-32C>A (n.581-32C>A) | dbSNP gnomAD v2 gnomAD v4 |
X | g.154367770_154367771delinsGC | CA2466659006 | FLNA | c.623-33_623-32delinsGC (n.623-33_623-32delinsGC) c.542-33_542-32delinsGC (n.542-33_542-32delinsGC) c.581-33_581-32delinsGC (n.581-33_581-32delinsGC) | |
X | g.154367772del | CA645290448 | FLNA | c.623-33del (n.623-33del) c.542-33del (n.542-33del) c.581-33del (n.581-33del) | dbSNP gnomAD v2 gnomAD v4 |
X | g.154367772C= | CA2466659008 | FLNA | c.623-34G= (n.623-34G=) c.542-34G= (n.542-34G=) c.581-34G= (n.581-34G=) | |
X | g.154367772C>T | CA10561385 | FLNA | c.623-34G>A (n.623-34G>A) c.542-34G>A (n.542-34G>A) c.581-34G>A (n.581-34G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.154367773G>A | CA10561386 | FLNA | c.623-35C>T (n.623-35C>T) c.542-35C>T (n.542-35C>T) c.581-35C>T (n.581-35C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.154367773G>C | CA645290449 | FLNA | c.623-35C>G (n.623-35C>G) c.542-35C>G (n.542-35C>G) c.581-35C>G (n.581-35C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.154367773G= | CA2466659009 | FLNA | c.623-35C= (n.623-35C=) c.542-35C= (n.542-35C=) c.581-35C= (n.581-35C=) | |
X | g.154367774C= | CA2466659010 | FLNA | c.623-36G= (n.623-36G=) c.542-36G= (n.542-36G=) c.581-36G= (n.581-36G=) | |
X | g.154367774C>T | CA2466659011 | FLNA | c.623-36G>A (n.623-36G>A) c.542-36G>A (n.542-36G>A) c.581-36G>A (n.581-36G>A) | dbSNP gnomAD v3 gnomAD v4 |
X | g.154367775A= | CA2466659012 | FLNA | c.623-37T= (n.623-37T=) c.542-37T= (n.542-37T=) c.581-37T= (n.581-37T=) | |
X | g.154367775A>C | CA2695082986 | FLNA | c.623-37T>G (n.623-37T>G) c.542-37T>G (n.542-37T>G) c.581-37T>G (n.581-37T>G) | gnomAD v4 |
X | g.154367775A>G | CA873345209 | FLNA | c.623-37T>C (n.623-37T>C) c.542-37T>C (n.542-37T>C) c.581-37T>C (n.581-37T>C) | dbSNP gnomAD v4 |
X | g.154367779C>A | CA645290450 | FLNA | c.623-41G>T (n.623-41G>T) c.542-41G>T (n.542-41G>T) c.581-41G>T (n.581-41G>T) | dbSNP gnomAD v2 gnomAD v4 |
X | g.154367779C= | CA2466659013 | FLNA | c.623-41G= (n.623-41G=) c.542-41G= (n.542-41G=) c.581-41G= (n.581-41G=) | |
X | g.154367779C>G | CA645290451 | FLNA | c.623-41G>C (n.623-41G>C) c.542-41G>C (n.542-41G>C) c.581-41G>C (n.581-41G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.154367779C>T | CA10561387 | FLNA | c.623-41G>A (n.623-41G>A) c.542-41G>A (n.542-41G>A) c.581-41G>A (n.581-41G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.154367780C>T | CA2695082987 | FLNA | c.623-42G>A (n.623-42G>A) c.542-42G>A (n.542-42G>A) c.581-42G>A (n.581-42G>A) | gnomAD v4 |
X | g.154367781C>T | CA2558130291 | FLNA | c.623-43G>A (n.623-43G>A) c.542-43G>A (n.542-43G>A) c.581-43G>A (n.581-43G>A) | gnomAD v4 |
X | g.154367783C>G | CA2503638722 | FLNA | c.623-45G>C (n.623-45G>C) c.542-45G>C (n.542-45G>C) c.581-45G>C (n.581-45G>C) | gnomAD v4 |
X | g.154367784T>G | CA2579738364 | FLNA | c.623-46A>C (n.623-46A>C) c.542-46A>C (n.542-46A>C) c.581-46A>C (n.581-46A>C) | |
X | g.154367787A= | CA2466659014 | FLNA | c.623-49T= (n.623-49T=) c.542-49T= (n.542-49T=) c.581-49T= (n.581-49T=) | |
X | g.154367787A>G | CA10561388 | FLNA | c.623-49T>C (n.623-49T>C) c.542-49T>C (n.542-49T>C) c.581-49T>C (n.581-49T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.154367788G>A | CA873345212 | FLNA | c.623-50C>T (n.623-50C>T) c.542-50C>T (n.542-50C>T) c.581-50C>T (n.581-50C>T) | dbSNP gnomAD v3 gnomAD v4 |
X | g.154367788G= | CA2466659015 | FLNA | c.623-50C= (n.623-50C=) c.542-50C= (n.542-50C=) c.581-50C= (n.581-50C=) | |
X | g.154367789G>A | CA2579738365 | FLNA | c.623-51C>T (n.623-51C>T) c.542-51C>T (n.542-51C>T) c.581-51C>T (n.581-51C>T) | gnomAD v4 |
X | g.154367789G>T | CA2503392806 | FLNA | c.623-51C>A (n.623-51C>A) c.542-51C>A (n.542-51C>A) c.581-51C>A (n.581-51C>A) | |
X | g.154367790G>A | CA2824282208 | FLNA | c.623-52C>T (n.623-52C>T) c.542-52C>T (n.542-52C>T) c.581-52C>T (n.581-52C>T) | |
X | g.154367791C>T | CA2579738366 | FLNA | c.622+51G>A (n.622+51G>A) c.541+51G>A (n.541+51G>A) c.580+51G>A (n.580+51G>A) | |
X | g.154367792C>A | CA2695082988 | FLNA | c.622+50G>T (n.622+50G>T) c.541+50G>T (n.541+50G>T) c.580+50G>T (n.580+50G>T) | gnomAD v4 |
X | g.154367795C= | CA2466659016 | FLNA | c.622+47G= (n.622+47G=) c.541+47G= (n.541+47G=) c.580+47G= (n.580+47G=) | |
X | g.154367796C>T | CA2529390332 | FLNA | c.622+46G>A (n.622+46G>A) c.541+46G>A (n.541+46G>A) c.580+46G>A (n.580+46G>A) | |
X | g.154367796_154367797insTC | CA10561389 | FLNA | c.622+46_622+47insAG (n.622+46_622+47insAG) c.541+46_541+47insAG (n.541+46_541+47insAG) c.580+46_580+47insAG (n.580+46_580+47insAG) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.154367797A= | CA2466659017 | FLNA | c.622+45T= (n.622+45T=) c.541+45T= (n.541+45T=) c.580+45T= (n.580+45T=) | |
X | g.154367797A>G | CA915938875 | FLNA | c.622+45T>C (n.622+45T>C) c.541+45T>C (n.541+45T>C) c.580+45T>C (n.580+45T>C) | dbSNP gnomAD v2 |
X | g.154367798T>A | CA10561390 | FLNA | c.622+44A>T (n.622+44A>T) c.541+44A>T (n.541+44A>T) c.580+44A>T (n.580+44A>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.154367798T>G | CA2824282211 | FLNA | c.622+44A>C (n.622+44A>C) c.541+44A>C (n.541+44A>C) c.580+44A>C (n.580+44A>C) | |
X | g.154367798T= | CA2466659018 | FLNA | c.622+44A= (n.622+44A=) c.541+44A= (n.541+44A=) c.580+44A= (n.580+44A=) | |
X | g.154367799G= | CA2466659019 | FLNA | c.622+43C= (n.622+43C=) c.541+43C= (n.541+43C=) c.580+43C= (n.580+43C=) | |
X | g.154367799G>T | CA10561391 | FLNA | c.622+43C>A (n.622+43C>A) c.541+43C>A (n.541+43C>A) c.580+43C>A (n.580+43C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.154367800G>A | CA10561392 | FLNA | c.622+42C>T (n.622+42C>T) c.541+42C>T (n.541+42C>T) c.580+42C>T (n.580+42C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.154367800G= | CA2466659020 | FLNA | c.622+42C= (n.622+42C=) c.541+42C= (n.541+42C=) c.580+42C= (n.580+42C=) | |
X | g.154367801G>A | CA2695082989 | FLNA | c.622+41C>T (n.622+41C>T) c.541+41C>T (n.541+41C>T) c.580+41C>T (n.580+41C>T) | dbSNP gnomAD v4 |
X | g.154367802T>A | CA645290452 | FLNA | c.622+40A>T (n.622+40A>T) c.541+40A>T (n.541+40A>T) c.580+40A>T (n.580+40A>T) | dbSNP gnomAD v2 gnomAD v4 |
X | g.154367802T= | CA2466659021 | FLNA | c.622+40A= (n.622+40A=) c.541+40A= (n.541+40A=) c.580+40A= (n.580+40A=) | |
X | g.154367803G>T | CA2695082990 | FLNA | c.622+39C>A (n.622+39C>A) c.541+39C>A (n.541+39C>A) c.580+39C>A (n.580+39C>A) | gnomAD v4 |
X | g.154367804A>G | CA2533405665 | FLNA | c.622+38T>C (n.622+38T>C) c.541+38T>C (n.541+38T>C) c.580+38T>C (n.580+38T>C) | |
X | g.154367805C>A | CA2695082992 | FLNA | c.622+37G>T (n.622+37G>T) c.541+37G>T (n.541+37G>T) c.580+37G>T (n.580+37G>T) | gnomAD v4 |
X | g.154367805C>T | CA2695082991 | FLNA | c.622+37G>A (n.622+37G>A) c.541+37G>A (n.541+37G>A) c.580+37G>A (n.580+37G>A) | gnomAD v4 |
X | g.154367808dup | CA2579738367 | FLNA | c.622+37dup (n.622+37dup) c.541+37dup (n.541+37dup) c.580+37dup (n.580+37dup) | |
X | g.154367808del | CA2579738368 | FLNA | c.622+37del (n.622+37del) c.541+37del (n.541+37del) c.580+37del (n.580+37del) | |
X | g.154367806C>A | CA10561393 | FLNA | c.622+36G>T (n.622+36G>T) c.541+36G>T (n.541+36G>T) c.580+36G>T (n.580+36G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.154367806C= | CA2466659022 | FLNA | c.622+36G= (n.622+36G=) c.541+36G= (n.541+36G=) c.580+36G= (n.580+36G=) |