Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.154367740_154367842del | CA519709779 | FLNA | c.622+2_623del c.541+2_542del c.580+2_581del | |
X | g.154367821C= | CA2466659027 | FLNA | c.622+21G= (n.622+21G=) c.541+21G= (n.541+21G=) c.580+21G= (n.580+21G=) | |
X | g.154367821C>T | CA873345221 | FLNA | c.622+21G>A (n.622+21G>A) c.541+21G>A (n.541+21G>A) c.580+21G>A (n.580+21G>A) | dbSNP |
X | g.154367824G= | CA2466659028 | FLNA | c.622+18C= (n.622+18C=) c.541+18C= (n.541+18C=) c.580+18C= (n.580+18C=) | |
X | g.154367824G>T | CA10561396 | FLNA | c.622+18C>A (n.622+18C>A) c.541+18C>A (n.541+18C>A) c.580+18C>A (n.580+18C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.154367825C>A | CA2466659030 | FLNA | c.622+17G>T (n.622+17G>T) c.541+17G>T (n.541+17G>T) c.580+17G>T (n.580+17G>T) | dbSNP |
X | g.154367825C= | CA2466659029 | FLNA | c.622+17G= (n.622+17G=) c.541+17G= (n.541+17G=) c.580+17G= (n.580+17G=) | |
X | g.154367826C= | CA2466659031 | FLNA | c.622+16G= (n.622+16G=) c.541+16G= (n.541+16G=) c.580+16G= (n.580+16G=) | |
X | g.154367826C>T | CA10561397 | FLNA | c.622+16G>A (n.622+16G>A) c.541+16G>A (n.541+16G>A) c.580+16G>A (n.580+16G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.154367827T>C | CA2695083001 | FLNA | c.622+15A>G (n.622+15A>G) c.541+15A>G (n.541+15A>G) c.580+15A>G (n.580+15A>G) | gnomAD v4 |
X | g.154367829T>C | CA10561398 | FLNA | c.622+13A>G (n.622+13A>G) c.541+13A>G (n.541+13A>G) c.580+13A>G (n.580+13A>G) | dbSNP ExAC gnomAD v2 |
X | g.154367829T= | CA2466659032 | FLNA | c.622+13A= (n.622+13A=) c.541+13A= (n.541+13A=) c.580+13A= (n.580+13A=) | |
X | g.154367830G>A | CA873345228 | FLNA | c.622+12C>T (n.622+12C>T) c.541+12C>T (n.541+12C>T) c.580+12C>T (n.580+12C>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.154367830G= | CA2466659033 | FLNA | c.622+12C= (n.622+12C=) c.541+12C= (n.541+12C=) c.580+12C= (n.580+12C=) | |
X | g.154367831C= | CA2466659034 | FLNA | c.622+11G= (n.622+11G=) c.541+11G= (n.541+11G=) c.580+11G= (n.580+11G=) | |
X | g.154367831C>T | CA645290453 | FLNA | c.622+11G>A (n.622+11G>A) c.541+11G>A (n.541+11G>A) c.580+11G>A (n.580+11G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.154367832G>A | CA10561399 | FLNA | c.622+10C>T (n.622+10C>T) c.541+10C>T (n.541+10C>T) c.580+10C>T (n.580+10C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.154367832G= | CA2466659035 | FLNA | c.622+10C= (n.622+10C=) c.541+10C= (n.541+10C=) c.580+10C= (n.580+10C=) | |
X | g.154367833C= | CA2466659036 | FLNA | c.622+9G= (n.622+9G=) c.541+9G= (n.541+9G=) c.580+9G= (n.580+9G=) | |
X | g.154367833C>G | CA2573159438 | FLNA | c.622+9G>C (n.622+9G>C) c.541+9G>C (n.541+9G>C) c.580+9G>C (n.580+9G>C) | ClinVar dbSNP |
X | g.154367833C>T | CA10561400 | FLNA | c.622+9G>A (n.622+9G>A) c.541+9G>A (n.541+9G>A) c.580+9G>A (n.580+9G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.154367836C>A | CA2824282225 | FLNA | c.622+6G>T (n.622+6G>T) c.541+6G>T (n.541+6G>T) c.580+6G>T (n.580+6G>T) | |
X | g.154367836C= | CA2466659037 | FLNA | c.622+6G= (n.622+6G=) c.541+6G= (n.541+6G=) c.580+6G= (n.580+6G=) | |
X | g.154367836C>G | CA2740090210 | FLNA | c.622+6G>C (n.622+6G>C) c.541+6G>C (n.541+6G>C) c.580+6G>C (n.580+6G>C) | ClinVar |
X | g.154367836C>T | CA2466659038 | FLNA | c.622+6G>A (n.622+6G>A) c.541+6G>A (n.541+6G>A) c.580+6G>A (n.580+6G>A) | ClinVar dbSNP |
X | g.154367837C= | CA2466659039 | FLNA | c.622+5G= (n.622+5G=) c.541+5G= (n.541+5G=) c.580+5G= (n.580+5G=) | |
X | g.154367837C>G | CA1139667850 | FLNA | c.622+5G>C (n.622+5G>C) c.541+5G>C (n.541+5G>C) c.580+5G>C (n.580+5G>C) | ClinVar dbSNP |
X | g.154367838T>A | CA2579738370 | FLNA | c.622+4A>T (n.622+4A>T) c.541+4A>T (n.541+4A>T) c.580+4A>T (n.580+4A>T) | |
X | g.154367838T>G | CA2824282230 | FLNA | c.622+4A>C (n.622+4A>C) c.541+4A>C (n.541+4A>C) c.580+4A>C (n.580+4A>C) | |
X | g.154367839C>A | CA2824282231 | FLNA | c.622+3G>T (n.622+3G>T) c.541+3G>T (n.541+3G>T) c.580+3G>T (n.580+3G>T) | |
X | g.154367839C>T | CA2573159439 | FLNA | c.622+3G>A (n.622+3G>A) c.541+3G>A (n.541+3G>A) c.580+3G>A (n.580+3G>A) | ClinVar dbSNP |
X | g.154367840A>C | CA415248959 | FLNA | c.622+2T>G (n.622+2T>G) c.541+2T>G (n.541+2T>G) c.580+2T>G (n.580+2T>G) | |
X | g.154367840A>G | CA415248958 | FLNA | c.622+2T>C (n.622+2T>C) c.541+2T>C (n.541+2T>C) c.580+2T>C (n.580+2T>C) | |
X | g.154367840A>T | CA415248960 | FLNA | c.622+2T>A (n.622+2T>A) c.541+2T>A (n.541+2T>A) c.580+2T>A (n.580+2T>A) | |
X | g.154367841C>A | CA415248961 | FLNA | c.622+1G>T (n.622+1G>T) c.541+1G>T (n.541+1G>T) c.580+1G>T (n.580+1G>T) | |
X | g.154367841C>G | CA415248962 | FLNA | c.622+1G>C (n.622+1G>C) c.541+1G>C (n.541+1G>C) c.580+1G>C (n.580+1G>C) | |
X | g.154367841C>T | CA415248963 | FLNA | c.622+1G>A (n.622+1G>A) c.541+1G>A (n.541+1G>A) c.580+1G>A (n.580+1G>A) | ClinVar dbSNP |
X | g.154367842C>A | CA415248964 | FLNA | c.622G>T (p.Gly208Cys) c.541G>T (p.Gly181Cys) c.580G>T (p.Gly194Cys) | |
X | g.154367842C= | CA2466659040 | FLNA | c.622G= (p.Gly208=) c.541G= (p.Gly181=) c.580G= (p.Gly194=) | |
X | g.154367842C>G | CA204972 | FLNA | c.622G>C (p.Gly208Arg) c.541G>C (p.Gly181Arg) c.580G>C (p.Gly194Arg) | ClinVar dbSNP |
X | g.154367842C>T | CA415248965 | FLNA | c.622G>A (p.Gly208Ser) c.541G>A (p.Gly181Ser) c.580G>A (p.Gly194Ser) | |
X | g.154367843C>A | CA519709832 | FLNA | c.621G>T (p.Pro207=) c.540G>T (p.Pro180=) c.579G>T (p.Pro193=) | gnomAD v4 |
X | g.154367843C= | CA2466659041 | FLNA | c.621G= (p.Pro207=) c.540G= (p.Pro180=) c.579G= (p.Pro193=) | |
X | g.154367843C>G | CA519709833 | FLNA | c.621G>C (p.Pro207=) c.540G>C (p.Pro180=) c.579G>C (p.Pro193=) | ClinVar |
X | g.154367843C>T | CA10561401 | FLNA | c.621G>A (p.Pro207=) c.540G>A (p.Pro180=) c.579G>A (p.Pro193=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
X | g.154367844G>A | CA256056 | FLNA | c.620C>T (p.Pro207Leu) c.539C>T (p.Pro180Leu) c.578C>T (p.Pro193Leu) | ClinVar dbSNP COSMIC COSMIC |
X | g.154367844G>C | CA415248966 | FLNA | c.620C>G (p.Pro207Arg) c.539C>G (p.Pro180Arg) c.578C>G (p.Pro193Arg) | |
X | g.154367844G= | CA2466659042 | FLNA | c.620C= (p.Pro207=) c.539C= (p.Pro180=) c.578C= (p.Pro193=) | |
X | g.154367844G>T | CA415248967 | FLNA | c.620C>A (p.Pro207Gln) c.539C>A (p.Pro180Gln) c.578C>A (p.Pro193Gln) | ClinVar dbSNP |
X | g.154367845G>A | CA415248968 | FLNA | c.619C>T (p.Pro207Ser) c.538C>T (p.Pro180Ser) c.577C>T (p.Pro193Ser) | ClinVar dbSNP |
X | g.154367845G>C | CA415248969 | FLNA | c.619C>G (p.Pro207Ala) c.538C>G (p.Pro180Ala) c.577C>G (p.Pro193Ala) | |
X | g.154367845G= | CA2466659043 | FLNA | c.619C= (p.Pro207=) c.538C= (p.Pro180=) c.577C= (p.Pro193=) | |
X | g.154367845G>T | CA415248970 | FLNA | c.619C>A (p.Pro207Thr) c.538C>A (p.Pro180Thr) c.577C>A (p.Pro193Thr) | |
X | g.154367846G>A | CA519709848 | FLNA | c.618C>T (p.Ala206=) c.537C>T (p.Ala179=) c.576C>T (p.Ala192=) | |
X | g.154367846G>C | CA519709849 | FLNA | c.618C>G (p.Ala206=) c.537C>G (p.Ala179=) c.576C>G (p.Ala192=) | |
X | g.154367846G>T | CA519709850 | FLNA | c.618C>A (p.Ala206=) c.537C>A (p.Ala179=) c.576C>A (p.Ala192=) | |
X | g.154367847G>A | CA16621258 | FLNA | c.617C>T (p.Ala206Val) c.536C>T (p.Ala179Val) c.575C>T (p.Ala192Val) | ClinVar dbSNP gnomAD v4 |
X | g.154367847G>C | CA415248972 | FLNA | c.617C>G (p.Ala206Gly) c.536C>G (p.Ala179Gly) c.575C>G (p.Ala192Gly) | gnomAD v4 |
X | g.154367847G= | CA2466659044 | FLNA | c.617C= (p.Ala206=) c.536C= (p.Ala179=) c.575C= (p.Ala192=) | |
X | g.154367847G>T | CA415248971 | FLNA | c.617C>A (p.Ala206Asp) c.536C>A (p.Ala179Asp) c.575C>A (p.Ala192Asp) | |
X | g.154367848C>A | CA415248973 | FLNA | c.616G>T (p.Ala206Ser) c.535G>T (p.Ala179Ser) c.574G>T (p.Ala192Ser) | |
X | g.154367848C>G | CA415248974 | FLNA | c.616G>C (p.Ala206Pro) c.535G>C (p.Ala179Pro) c.574G>C (p.Ala192Pro) | |
X | g.154367848C>T | CA415248975 | FLNA | c.616G>A (p.Ala206Thr) c.535G>A (p.Ala179Thr) c.574G>A (p.Ala192Thr) | |
X | g.154367849A= | CA2466659045 | FLNA | c.615T= (p.Cys205=) c.534T= (p.Cys178=) c.573T= (p.Cys191=) | |
X | g.154367849A>C | CA415248976 | FLNA | c.615T>G (p.Cys205Trp) c.534T>G (p.Cys178Trp) c.573T>G (p.Cys191Trp) | |
X | g.154367849A>G | CA519709859 | FLNA | c.615T>C (p.Cys205=) c.534T>C (p.Cys178=) c.573T>C (p.Cys191=) | dbSNP |
X | g.154367849A>T | CA415248977 | FLNA | c.615T>A (p.Cys205Ter) c.534T>A (p.Cys178Ter) c.573T>A (p.Cys191Ter) | |
X | g.154367850C>A | CA415248978 | FLNA | c.614G>T (p.Cys205Phe) c.533G>T (p.Cys178Phe) c.572G>T (p.Cys191Phe) | |
X | g.154367850C>G | CA415248979 | FLNA | c.614G>C (p.Cys205Ser) c.533G>C (p.Cys178Ser) c.572G>C (p.Cys191Ser) | |
X | g.154367850C>T | CA415248980 | FLNA | c.614G>A (p.Cys205Tyr) c.533G>A (p.Cys178Tyr) c.572G>A (p.Cys191Tyr) | |
X | g.154367851A>C | CA415248981 | FLNA | c.613T>G (p.Cys205Gly) c.532T>G (p.Cys178Gly) c.571T>G (p.Cys191Gly) | |
X | g.154367851A>G | CA415248982 | FLNA | c.613T>C (p.Cys205Arg) c.532T>C (p.Cys178Arg) c.571T>C (p.Cys191Arg) | |
X | g.154367851A>T | CA415248983 | FLNA | c.613T>A (p.Cys205Ser) c.532T>A (p.Cys178Ser) c.571T>A (p.Cys191Ser) | |
X | g.154367852G>A | CA519709867 | FLNA | c.612C>T (p.Ser204=) c.531C>T (p.Ser177=) c.570C>T (p.Ser190=) | |
X | g.154367852G>C | CA415248984 | FLNA | c.612C>G (p.Ser204Arg) c.531C>G (p.Ser177Arg) c.570C>G (p.Ser190Arg) | |
X | g.154367852G>T | CA415248985 | FLNA | c.612C>A (p.Ser204Arg) c.531C>A (p.Ser177Arg) c.570C>A (p.Ser190Arg) | |
X | g.154367853C>A | CA415248987 | FLNA | c.611G>T (p.Ser204Ile) c.530G>T (p.Ser177Ile) c.569G>T (p.Ser190Ile) | |
X | g.154367853C>G | CA415248989 | FLNA | c.611G>C (p.Ser204Thr) c.530G>C (p.Ser177Thr) c.569G>C (p.Ser190Thr) | |
X | g.154367853C>T | CA415248986 | FLNA | c.611G>A (p.Ser204Asn) c.530G>A (p.Ser177Asn) c.569G>A (p.Ser190Asn) | |
X | g.154367854T>A | CA415248991 | FLNA | c.610A>T (p.Ser204Cys) c.529A>T (p.Ser177Cys) c.568A>T (p.Ser190Cys) | |
X | g.154367854T>C | CA415248993 | FLNA | c.610A>G (p.Ser204Gly) c.529A>G (p.Ser177Gly) c.568A>G (p.Ser190Gly) | |
X | g.154367854T>G | CA415248995 | FLNA | c.610A>C (p.Ser204Arg) c.529A>C (p.Ser177Arg) c.568A>C (p.Ser190Arg) | |
X | g.154367855G>A | CA519709877 | FLNA | c.609C>T (p.Asp203=) c.528C>T (p.Asp176=) c.567C>T (p.Asp189=) | dbSNP gnomAD v2 gnomAD v4 |
X | g.154367855G>C | CA415248998 | FLNA | c.609C>G (p.Asp203Glu) c.528C>G (p.Asp176Glu) c.567C>G (p.Asp189Glu) | |
X | g.154367855G= | CA2466659046 | FLNA | c.609C= (p.Asp203=) c.528C= (p.Asp176=) c.567C= (p.Asp189=) | |
X | g.154367855G>T | CA415249001 | FLNA | c.609C>A (p.Asp203Glu) c.528C>A (p.Asp176Glu) c.567C>A (p.Asp189Glu) | |
X | g.154367856T>A | CA415249005 | FLNA | c.608A>T (p.Asp203Val) c.527A>T (p.Asp176Val) c.566A>T (p.Asp189Val) | |
X | g.154367856T>C | CA415249007 | FLNA | c.608A>G (p.Asp203Gly) c.527A>G (p.Asp176Gly) c.566A>G (p.Asp189Gly) | |
X | g.154367856T>G | CA415249008 | FLNA | c.608A>C (p.Asp203Ala) c.527A>C (p.Asp176Ala) c.566A>C (p.Asp189Ala) | |
X | g.154367857C>A | CA256060 | FLNA | c.607G>T (p.Asp203Tyr) c.526G>T (p.Asp176Tyr) c.565G>T (p.Asp189Tyr) | ClinVar dbSNP |
X | g.154367857C= | CA2466659047 | FLNA | c.607G= (p.Asp203=) c.526G= (p.Asp176=) c.565G= (p.Asp189=) | |
X | g.154367857C>G | CA415249013 | FLNA | c.607G>C (p.Asp203His) c.526G>C (p.Asp176His) c.565G>C (p.Asp189His) | |
X | g.154367857C>T | CA415249015 | FLNA | c.607G>A (p.Asp203Asn) c.526G>A (p.Asp176Asn) c.565G>A (p.Asp189Asn) | |
X | g.154367858C>A | CA519709886 | FLNA | c.606G>T (p.Val202=) c.525G>T (p.Val175=) c.564G>T (p.Val188=) | |
X | g.154367858C>G | CA519709889 | FLNA | c.606G>C (p.Val202=) c.525G>C (p.Val175=) c.564G>C (p.Val188=) | |
X | g.154367858C>T | CA519709885 | FLNA | c.606G>A (p.Val202=) c.525G>A (p.Val175=) c.564G>A (p.Val188=) | |
X | g.154367859A>C | CA415249023 | FLNA | c.605T>G (p.Val202Gly) c.524T>G (p.Val175Gly) c.563T>G (p.Val188Gly) | |
X | g.154367859A>G | CA415249021 | FLNA | c.605T>C (p.Val202Ala) c.524T>C (p.Val175Ala) c.563T>C (p.Val188Ala) | |
X | g.154367859A>T | CA415249018 | FLNA | c.605T>A (p.Val202Glu) c.524T>A (p.Val175Glu) c.563T>A (p.Val188Glu) | |
X | g.154367860C>A | CA415249026 | FLNA | c.604G>T (p.Val202Leu) c.523G>T (p.Val175Leu) c.562G>T (p.Val188Leu) | |
X | g.154367860C>G | CA415249028 | FLNA | c.604G>C (p.Val202Leu) c.523G>C (p.Val175Leu) c.562G>C (p.Val188Leu) | |
X | g.154367860C>T | CA415249030 | FLNA | c.604G>A (p.Val202Met) c.523G>A (p.Val175Met) c.562G>A (p.Val188Met) | |
X | g.154367861C>A | CA519709901 | FLNA | c.603G>T (p.Leu201=) c.522G>T (p.Leu174=) c.561G>T (p.Leu187=) | COSMIC COSMIC |
X | g.154367861C>G | CA519709897 | FLNA | c.603G>C (p.Leu201=) c.522G>C (p.Leu174=) c.561G>C (p.Leu187=) | |
X | g.154367861C>T | CA519709899 | FLNA | c.603G>A (p.Leu201=) c.522G>A (p.Leu174=) c.561G>A (p.Leu187=) | |
X | g.154367862A>C | CA415249033 | FLNA | c.602T>G (p.Leu201Arg) c.521T>G (p.Leu174Arg) c.560T>G (p.Leu187Arg) | |
X | g.154367862A>G | CA415249036 | FLNA | c.602T>C (p.Leu201Pro) c.521T>C (p.Leu174Pro) c.560T>C (p.Leu187Pro) | |
X | g.154367862A>T | CA415249041 | FLNA | c.602T>A (p.Leu201Gln) c.521T>A (p.Leu174Gln) c.560T>A (p.Leu187Gln) | |
X | g.154367863G>A | CA519709903 | FLNA | c.601C>T (p.Leu201=) c.520C>T (p.Leu174=) c.559C>T (p.Leu187=) | ClinVar dbSNP gnomAD v4 |
X | g.154367863G>C | CA415249046 | FLNA | c.601C>G (p.Leu201Val) c.520C>G (p.Leu174Val) c.559C>G (p.Leu187Val) | |
X | g.154367863G>T | CA415249049 | FLNA | c.601C>A (p.Leu201Met) c.520C>A (p.Leu174Met) c.559C>A (p.Leu187Met) | |
X | g.154367864G>A | CA519709905 | FLNA | c.600C>T (p.Ala200=) c.519C>T (p.Ala173=) c.558C>T (p.Ala186=) | ClinVar gnomAD v4 |
X | g.154367864G>C | CA519709909 | FLNA | c.600C>G (p.Ala200=) c.519C>G (p.Ala173=) c.558C>G (p.Ala186=) | |
X | g.154367864G>T | CA519709907 | FLNA | c.600C>A (p.Ala200=) c.519C>A (p.Ala173=) c.558C>A (p.Ala186=) | |
X | g.154367865G>A | CA415249052 | FLNA | c.599C>T (p.Ala200Val) c.518C>T (p.Ala173Val) c.557C>T (p.Ala186Val) | |
X | g.154367865G>C | CA415249054 | FLNA | c.599C>G (p.Ala200Gly) c.518C>G (p.Ala173Gly) c.557C>G (p.Ala186Gly) | |
X | g.154367865G>T | CA415249056 | FLNA | c.599C>A (p.Ala200Asp) c.518C>A (p.Ala173Asp) c.557C>A (p.Ala186Asp) | |
X | g.154367866C>A | CA415249059 | FLNA | c.598G>T (p.Ala200Ser) c.517G>T (p.Ala173Ser) c.556G>T (p.Ala186Ser) | |
X | g.154367866C= | CA2466659048 | FLNA | c.598G= (p.Ala200=) c.517G= (p.Ala173=) c.556G= (p.Ala186=) | |
X | g.154367866C>G | CA415249064 | FLNA | c.598G>C (p.Ala200Pro) c.517G>C (p.Ala173Pro) c.556G>C (p.Ala186Pro) | |
X | g.154367866C>T | CA415249061 | FLNA | c.598G>A (p.Ala200Thr) c.517G>A (p.Ala173Thr) c.556G>A (p.Ala186Thr) | dbSNP gnomAD v4 |
X | g.154367867G>A | CA337284381 | FLNA | c.597C>T (p.Gly199=) c.516C>T (p.Gly172=) c.555C>T (p.Gly185=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.154367867G>C | CA519709915 | FLNA | c.597C>G (p.Gly199=) c.516C>G (p.Gly172=) c.555C>G (p.Gly185=) | |
X | g.154367867G= | CA2466659049 | FLNA | c.597C= (p.Gly199=) c.516C= (p.Gly172=) c.555C= (p.Gly185=) | |
X | g.154367867G>T | CA519709917 | FLNA | c.597C>A (p.Gly199=) c.516C>A (p.Gly172=) c.555C>A (p.Gly185=) | |
X | g.154367868C>A | CA415249069 | FLNA | c.596G>T (p.Gly199Val) c.515G>T (p.Gly172Val) c.554G>T (p.Gly185Val) | |
X | g.154367868C>G | CA415249072 | FLNA | c.596G>C (p.Gly199Ala) c.515G>C (p.Gly172Ala) c.554G>C (p.Gly185Ala) | |
X | g.154367868C>T | CA415249074 | FLNA | c.596G>A (p.Gly199Asp) c.515G>A (p.Gly172Asp) c.554G>A (p.Gly185Asp) | |
X | g.154367870del | CA2695236983 | FLNA | c.596del (p.Gly199AlafsTer?) c.515del (p.Gly172AlafsTer?) c.554del (p.Gly185AlafsTer?) | |
X | g.154367869C>A | CA415249079 | FLNA | c.595G>T (p.Gly199Cys) c.514G>T (p.Gly172Cys) c.553G>T (p.Gly185Cys) | |
X | g.154367869C>G | CA415249081 | FLNA | c.595G>C (p.Gly199Arg) c.514G>C (p.Gly172Arg) c.553G>C (p.Gly185Arg) | |
X | g.154367869C>T | CA415249083 | FLNA | c.595G>A (p.Gly199Ser) c.514G>A (p.Gly172Ser) c.553G>A (p.Gly185Ser) | |
X | g.154367870C>A | CA519709918 | FLNA | c.594G>T (p.Leu198=) c.513G>T (p.Leu171=) c.552G>T (p.Leu184=) | |
X | g.154367870C= | CA2466659050 | FLNA | c.594G= (p.Leu198=) c.513G= (p.Leu171=) c.552G= (p.Leu184=) | |
X | g.154367870C>G | CA519709919 | FLNA | c.594G>C (p.Leu198=) c.513G>C (p.Leu171=) c.552G>C (p.Leu184=) | |
X | g.154367870C>T | CA519709921 | FLNA | c.594G>A (p.Leu198=) c.513G>A (p.Leu171=) c.552G>A (p.Leu184=) | dbSNP gnomAD v2 gnomAD v4 |
X | g.154367871A>C | CA415249086 | FLNA | c.593T>G (p.Leu198Arg) c.512T>G (p.Leu171Arg) c.551T>G (p.Leu184Arg) | |
X | g.154367871A>G | CA415249087 | FLNA | c.593T>C (p.Leu198Pro) c.512T>C (p.Leu171Pro) c.551T>C (p.Leu184Pro) | |
X | g.154367871A>T | CA415249089 | FLNA | c.593T>A (p.Leu198Gln) c.512T>A (p.Leu171Gln) c.551T>A (p.Leu184Gln) | |
X | g.154367872G>A | CA10561402 | FLNA | c.592C>T (p.Leu198=) c.511C>T (p.Leu171=) c.550C>T (p.Leu184=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.154367872G>C | CA415249095 | FLNA | c.592C>G (p.Leu198Val) c.511C>G (p.Leu171Val) c.550C>G (p.Leu184Val) | |
X | g.154367872G= | CA2466659051 | FLNA | c.592C= (p.Leu198=) c.511C= (p.Leu171=) c.550C= (p.Leu184=) | |
X | g.154367872G>T | CA415249097 | FLNA | c.592C>A (p.Leu198Met) c.511C>A (p.Leu171Met) c.550C>A (p.Leu184Met) | |
X | g.154367873G>A | CA519709925 | FLNA | c.591C>T (p.Ala197=) c.510C>T (p.Ala170=) c.549C>T (p.Ala183=) | |
X | g.154367873G>C | CA519709926 | FLNA | c.591C>G (p.Ala197=) c.510C>G (p.Ala170=) c.549C>G (p.Ala183=) | |
X | g.154367873G= | CA2466659052 | FLNA | c.591C= (p.Ala197=) c.510C= (p.Ala170=) c.549C= (p.Ala183=) | |
X | g.154367873G>T | CA337284386 | FLNA | c.591C>A (p.Ala197=) c.510C>A (p.Ala170=) c.549C>A (p.Ala183=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.154367874G>A | CA415249105 | FLNA | c.590C>T (p.Ala197Val) c.509C>T (p.Ala170Val) c.548C>T (p.Ala183Val) | dbSNP |
X | g.154367874G>C | CA415249101 | FLNA | c.590C>G (p.Ala197Gly) c.509C>G (p.Ala170Gly) c.548C>G (p.Ala183Gly) | |
X | g.154367874G= | CA2466659053 | FLNA | c.590C= (p.Ala197=) c.509C= (p.Ala170=) c.548C= (p.Ala183=) | |
X | g.154367874G>T | CA415249103 | FLNA | c.590C>A (p.Ala197Asp) c.509C>A (p.Ala170Asp) c.548C>A (p.Ala183Asp) | |
X | g.154367875C>A | CA415249109 | FLNA | c.589G>T (p.Ala197Ser) c.508G>T (p.Ala170Ser) c.547G>T (p.Ala183Ser) | |
X | g.154367875C>G | CA415249111 | FLNA | c.589G>C (p.Ala197Pro) c.508G>C (p.Ala170Pro) c.547G>C (p.Ala183Pro) | |
X | g.154367875C>T | CA415249113 | FLNA | c.589G>A (p.Ala197Thr) c.508G>A (p.Ala170Thr) c.547G>A (p.Ala183Thr) | |
X | g.154367876C>A | CA519709931 | FLNA | c.588G>T (p.Arg196=) c.507G>T (p.Arg169=) c.546G>T (p.Arg182=) | |
X | g.154367876C>G | CA519709932 | FLNA | c.588G>C (p.Arg196=) c.507G>C (p.Arg169=) c.546G>C (p.Arg182=) | |
X | g.154367876C>T | CA519709933 | FLNA | c.588G>A (p.Arg196=) c.507G>A (p.Arg169=) c.546G>A (p.Arg182=) | |
X | g.154367877C>A | CA415249116 | FLNA | c.587G>T (p.Arg196Leu) c.506G>T (p.Arg169Leu) c.545G>T (p.Arg182Leu) | |
X | g.154367877C= | CA2466659054 | FLNA | c.587G= (p.Arg196=) c.506G= (p.Arg169=) c.545G= (p.Arg182=) | |
X | g.154367877C>G | CA415249119 | FLNA | c.587G>C (p.Arg196Pro) c.506G>C (p.Arg169Pro) c.545G>C (p.Arg182Pro) | |
X | g.154367877C>T | CA415249122 | FLNA | c.587G>A (p.Arg196Gln) c.506G>A (p.Arg169Gln) c.545G>A (p.Arg182Gln) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
X | g.154367878G>A | CA234009 | FLNA | c.586C>T (p.Arg196Trp) c.505C>T (p.Arg169Trp) c.544C>T (p.Arg182Trp) | ClinVar dbSNP |
X | g.154367878G>C | CA415249125 | FLNA | c.586C>G (p.Arg196Gly) c.505C>G (p.Arg169Gly) c.544C>G (p.Arg182Gly) | |
X | g.154367878G= | CA2466659055 | FLNA | c.586C= (p.Arg196=) c.505C= (p.Arg169=) c.544C= (p.Arg182=) | |
X | g.154367878G>T | CA519709937 | FLNA | c.586C>A (p.Arg196=) c.505C>A (p.Arg169=) c.544C>A (p.Arg182=) | |
X | g.154367879G>A | CA519709940 | FLNA | c.585C>T (p.Gly195=) c.504C>T (p.Gly168=) c.543C>T (p.Gly181=) | |
X | g.154367879G>C | CA519709939 | FLNA | c.585C>G (p.Gly195=) c.504C>G (p.Gly168=) c.543C>G (p.Gly181=) | |
X | g.154367879G>T | CA519709938 | FLNA | c.585C>A (p.Gly195=) c.504C>A (p.Gly168=) c.543C>A (p.Gly181=) | |
X | g.154367880C>A | CA415249129 | FLNA | c.584G>T (p.Gly195Val) c.503G>T (p.Gly168Val) c.542G>T (p.Gly181Val) | |
X | g.154367880C>G | CA415249131 | FLNA | c.584G>C (p.Gly195Ala) c.503G>C (p.Gly168Ala) c.542G>C (p.Gly181Ala) | |
X | g.154367880C>T | CA415249133 | FLNA | c.584G>A (p.Gly195Asp) c.503G>A (p.Gly168Asp) c.542G>A (p.Gly181Asp) | |
X | g.154367881C>A | CA415249138 | FLNA | c.583G>T (p.Gly195Cys) c.502G>T (p.Gly168Cys) c.541G>T (p.Gly181Cys) | |
X | g.154367881C>G | CA415249143 | FLNA | c.583G>C (p.Gly195Arg) c.502G>C (p.Gly168Arg) c.541G>C (p.Gly181Arg) | |
X | g.154367881C>T | CA415249140 | FLNA | c.583G>A (p.Gly195Ser) c.502G>A (p.Gly168Ser) c.541G>A (p.Gly181Ser) | |
X | g.154367882G>A | CA519709942 | FLNA | c.582C>T (p.Ser194=) c.501C>T (p.Ser167=) c.540C>T (p.Ser180=) | ClinVar dbSNP gnomAD v4 |
X | g.154367882G>C | CA415249145 | FLNA | c.582C>G (p.Ser194Arg) c.501C>G (p.Ser167Arg) c.540C>G (p.Ser180Arg) | |
X | g.154367882G= | CA2466659056 | FLNA | c.582C= (p.Ser194=) c.501C= (p.Ser167=) c.540C= (p.Ser180=) | |
X | g.154367882G>T | CA415249146 | FLNA | c.582C>A (p.Ser194Arg) c.501C>A (p.Ser167Arg) c.540C>A (p.Ser180Arg) | |
X | g.154367883C>A | CA415249148 | FLNA | c.581G>T (p.Ser194Ile) c.500G>T (p.Ser167Ile) c.539G>T (p.Ser180Ile) | |
X | g.154367883C= | CA2466659057 | FLNA | c.581G= (p.Ser194=) c.500G= (p.Ser167=) c.539G= (p.Ser180=) | |
X | g.154367883C>G | CA415249151 | FLNA | c.581G>C (p.Ser194Thr) c.500G>C (p.Ser167Thr) c.539G>C (p.Ser180Thr) | |
X | g.154367883C>T | CA415249154 | FLNA | c.581G>A (p.Ser194Asn) c.500G>A (p.Ser167Asn) c.539G>A (p.Ser180Asn) | dbSNP gnomAD v2 gnomAD v4 |
X | g.154367884T>A | CA415249159 | FLNA | c.580A>T (p.Ser194Cys) c.499A>T (p.Ser167Cys) c.538A>T (p.Ser180Cys) | |
X | g.154367884T>C | CA415249161 | FLNA | c.580A>G (p.Ser194Gly) c.499A>G (p.Ser167Gly) c.538A>G (p.Ser180Gly) | |
X | g.154367884T>G | CA415249163 | FLNA | c.580A>C (p.Ser194Arg) c.499A>C (p.Ser167Arg) c.538A>C (p.Ser180Arg) | |
X | g.154367885C>A | CA415249166 | FLNA | c.579G>T (p.Gln193His) c.498G>T (p.Gln166His) c.537G>T (p.Gln179His) | |
X | g.154367885C>G | CA415249168 | FLNA | c.579G>C (p.Gln193His) c.498G>C (p.Gln166His) c.537G>C (p.Gln179His) | |
X | g.154367885C>T | CA519709945 | FLNA | c.579G>A (p.Gln193=) c.498G>A (p.Gln166=) c.537G>A (p.Gln179=) | gnomAD v4 |
X | g.154367886T>A | CA415249175 | FLNA | c.578A>T (p.Gln193Leu) c.497A>T (p.Gln166Leu) c.536A>T (p.Gln179Leu) | |
X | g.154367886T>C | CA415249173 | FLNA | c.578A>G (p.Gln193Arg) c.497A>G (p.Gln166Arg) c.536A>G (p.Gln179Arg) | |
X | g.154367886T>G | CA415249172 | FLNA | c.578A>C (p.Gln193Pro) c.497A>C (p.Gln166Pro) c.536A>C (p.Gln179Pro) | |
X | g.154367887G>A | CA415249180 | FLNA | c.577C>T (p.Gln193Ter) c.496C>T (p.Gln166Ter) c.535C>T (p.Gln179Ter) | ClinVar dbSNP |
X | g.154367887G>C | CA415249182 | FLNA | c.577C>G (p.Gln193Glu) c.496C>G (p.Gln166Glu) c.535C>G (p.Gln179Glu) | |
X | g.154367887G>T | CA415249183 | FLNA | c.577C>A (p.Gln193Lys) c.496C>A (p.Gln166Lys) c.535C>A (p.Gln179Lys) | |
X | g.154367888C>A | CA415249185 | FLNA | c.576G>T (p.Trp192Cys) c.495G>T (p.Trp165Cys) c.534G>T (p.Trp178Cys) | |
X | g.154367888C= | CA2466659058 | FLNA | c.576G= (p.Trp192=) c.495G= (p.Trp165=) c.534G= (p.Trp178=) | |
X | g.154367888C>G | CA415249187 | FLNA | c.576G>C (p.Trp192Cys) c.495G>C (p.Trp165Cys) c.534G>C (p.Trp178Cys) | |
X | g.154367888C>T | CA337284394 | FLNA | c.576G>A (p.Trp192Ter) c.495G>A (p.Trp165Ter) c.534G>A (p.Trp178Ter) | dbSNP |
X | g.154367889C>A | CA415249191 | FLNA | c.575G>T (p.Trp192Leu) c.494G>T (p.Trp165Leu) c.533G>T (p.Trp178Leu) | |
X | g.154367889C>G | CA415249194 | FLNA | c.575G>C (p.Trp192Ser) c.494G>C (p.Trp165Ser) c.533G>C (p.Trp178Ser) | |
X | g.154367889C>T | CA415249196 | FLNA | c.575G>A (p.Trp192Ter) c.494G>A (p.Trp165Ter) c.533G>A (p.Trp178Ter) | |
X | g.154367890A>C | CA415249199 | FLNA | c.574T>G (p.Trp192Gly) c.493T>G (p.Trp165Gly) c.532T>G (p.Trp178Gly) | |
X | g.154367890A>G | CA415249201 | FLNA | c.574T>C (p.Trp192Arg) c.493T>C (p.Trp165Arg) c.532T>C (p.Trp178Arg) | |
X | g.154367890A>T | CA415249204 | FLNA | c.574T>A (p.Trp192Arg) c.493T>A (p.Trp165Arg) c.532T>A (p.Trp178Arg) | |
X | g.154367891G>A | CA519709949 | FLNA | c.573C>T (p.Asp191=) c.492C>T (p.Asp164=) c.531C>T (p.Asp177=) | |
X | g.154367891G>C | CA415249207 | FLNA | c.573C>G (p.Asp191Glu) c.492C>G (p.Asp164Glu) c.531C>G (p.Asp177Glu) | |
X | g.154367891G>T | CA415249217 | FLNA | c.573C>A (p.Asp191Glu) c.492C>A (p.Asp164Glu) c.531C>A (p.Asp177Glu) | |
X | g.154367892T>A | CA415249221 | FLNA | c.572A>T (p.Asp191Val) c.491A>T (p.Asp164Val) c.530A>T (p.Asp177Val) | |
X | g.154367892T>C | CA415249228 | FLNA | c.572A>G (p.Asp191Gly) c.491A>G (p.Asp164Gly) c.530A>G (p.Asp177Gly) | |
X | g.154367892T>G | CA415249224 | FLNA | c.572A>C (p.Asp191Ala) c.491A>C (p.Asp164Ala) c.530A>C (p.Asp177Ala) | |
X | g.154367893C>A | CA415249231 | FLNA | c.571G>T (p.Asp191Tyr) c.490G>T (p.Asp164Tyr) c.529G>T (p.Asp177Tyr) | ClinVar dbSNP |
X | g.154367893C>G | CA415249233 | FLNA | c.571G>C (p.Asp191His) c.490G>C (p.Asp164His) c.529G>C (p.Asp177His) | |
X | g.154367893C>T | CA415249232 | FLNA | c.571G>A (p.Asp191Asn) c.490G>A (p.Asp164Asn) c.529G>A (p.Asp177Asn) | |
X | g.154367894C>A | CA519709950 | FLNA | c.570G>T (p.Arg190=) c.489G>T (p.Arg163=) c.528G>T (p.Arg176=) | |
X | g.154367894C>G | CA519709951 | FLNA | c.570G>C (p.Arg190=) c.489G>C (p.Arg163=) c.528G>C (p.Arg176=) | |
X | g.154367894C>T | CA519709952 | FLNA | c.570G>A (p.Arg190=) c.489G>A (p.Arg163=) c.528G>A (p.Arg176=) | |
X | g.154367895C>A | CA415249235 | FLNA | c.569G>T (p.Arg190Leu) c.488G>T (p.Arg163Leu) c.527G>T (p.Arg176Leu) | |
X | g.154367895C= | CA2466659059 | FLNA | c.569G= (p.Arg190=) c.488G= (p.Arg163=) c.527G= (p.Arg176=) | |
X | g.154367895C>G | CA415249237 | FLNA | c.569G>C (p.Arg190Pro) c.488G>C (p.Arg163Pro) c.527G>C (p.Arg176Pro) | |
X | g.154367895C>T | CA322045 | FLNA | c.569G>A (p.Arg190Gln) c.488G>A (p.Arg163Gln) c.527G>A (p.Arg176Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.154367896G>A | CA415249239 | FLNA | c.568C>T (p.Arg190Trp) c.487C>T (p.Arg163Trp) c.526C>T (p.Arg176Trp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.154367896G>C | CA415249250 | FLNA | c.568C>G (p.Arg190Gly) c.487C>G (p.Arg163Gly) c.526C>G (p.Arg176Gly) | |
X | g.154367896G= | CA2466659060 | FLNA | c.568C= (p.Arg190=) c.487C= (p.Arg163=) c.526C= (p.Arg176=) | |
X | g.154367896G>T | CA519709953 | FLNA | c.568C>A (p.Arg190=) c.487C>A (p.Arg163=) c.526C>A (p.Arg176=) | |
X | g.154367897G>A | CA519709954 | FLNA | c.567C>T (p.Ser189=) c.486C>T (p.Ser162=) c.525C>T (p.Ser175=) | |
X | g.154367897G>C | CA415249254 | FLNA | c.567C>G (p.Ser189Arg) c.486C>G (p.Ser162Arg) c.525C>G (p.Ser175Arg) | |
X | g.154367897G>T | CA415249261 | FLNA | c.567C>A (p.Ser189Arg) c.486C>A (p.Ser162Arg) c.525C>A (p.Ser175Arg) | |
X | g.154367898C>A | CA415249267 | FLNA | c.566G>T (p.Ser189Ile) c.485G>T (p.Ser162Ile) c.524G>T (p.Ser175Ile) | |
X | g.154367898C= | CA2466659061 | FLNA | c.566G= (p.Ser189=) c.485G= (p.Ser162=) c.524G= (p.Ser175=) | |
X | g.154367898C>G | CA415249270 | FLNA | c.566G>C (p.Ser189Thr) c.485G>C (p.Ser162Thr) c.524G>C (p.Ser175Thr) | |
X | g.154367898C>T | CA415249273 | FLNA | c.566G>A (p.Ser189Asn) c.485G>A (p.Ser162Asn) c.524G>A (p.Ser175Asn) | dbSNP gnomAD v3 gnomAD v4 |
X | g.154367899T>A | CA415249283 | FLNA | c.565A>T (p.Ser189Cys) c.484A>T (p.Ser162Cys) c.523A>T (p.Ser175Cys) | |
X | g.154367899T>C | CA415249279 | FLNA | c.565A>G (p.Ser189Gly) c.484A>G (p.Ser162Gly) c.523A>G (p.Ser175Gly) | |
X | g.154367899T>G | CA415249277 | FLNA | c.565A>C (p.Ser189Arg) c.484A>C (p.Ser162Arg) c.523A>C (p.Ser175Arg) | |
X | g.154367900G>A | CA519709957 | FLNA | c.564C>T (p.Phe188=) c.483C>T (p.Phe161=) c.522C>T (p.Phe174=) | ClinVar dbSNP |
X | g.154367900G>C | CA415249286 | FLNA | c.564C>G (p.Phe188Leu) c.483C>G (p.Phe161Leu) c.522C>G (p.Phe174Leu) | |
X | g.154367900G>T | CA415249287 | FLNA | c.564C>A (p.Phe188Leu) c.483C>A (p.Phe161Leu) c.522C>A (p.Phe174Leu) | |
X | g.154367901A>C | CA415249291 | FLNA | c.563T>G (p.Phe188Cys) c.482T>G (p.Phe161Cys) c.521T>G (p.Phe174Cys) | |
X | g.154367901A>G | CA415249294 | FLNA | c.563T>C (p.Phe188Ser) c.482T>C (p.Phe161Ser) c.521T>C (p.Phe174Ser) | |
X | g.154367901A>T | CA415249296 | FLNA | c.563T>A (p.Phe188Tyr) c.482T>A (p.Phe161Tyr) c.521T>A (p.Phe174Tyr) | |
X | g.154367902A>C | CA415249299 | FLNA | c.562T>G (p.Phe188Val) c.481T>G (p.Phe161Val) c.520T>G (p.Phe174Val) | |
X | g.154367902A>G | CA415249303 | FLNA | c.562T>C (p.Phe188Leu) c.481T>C (p.Phe161Leu) c.520T>C (p.Phe174Leu) | |
X | g.154367902A>T | CA415249304 | FLNA | c.562T>A (p.Phe188Ile) c.481T>A (p.Phe161Ile) c.520T>A (p.Phe174Ile) | |
X | g.154367903G>A | CA519709960 | FLNA | c.561C>T (p.Asn187=) c.480C>T (p.Asn160=) c.519C>T (p.Asn173=) | |
X | g.154367903G>C | CA415249305 | FLNA | c.561C>G (p.Asn187Lys) c.480C>G (p.Asn160Lys) c.519C>G (p.Asn173Lys) | |
X | g.154367903G>T | CA415249306 | FLNA | c.561C>A (p.Asn187Lys) c.480C>A (p.Asn160Lys) c.519C>A (p.Asn173Lys) | COSMIC COSMIC |
X | g.154367904T>A | CA415249312 | FLNA | c.560A>T (p.Asn187Ile) c.479A>T (p.Asn160Ile) c.518A>T (p.Asn173Ile) | |
X | g.154367904T>C | CA415249310 | FLNA | c.560A>G (p.Asn187Ser) c.479A>G (p.Asn160Ser) c.518A>G (p.Asn173Ser) | |
X | g.154367904T>G | CA415249308 | FLNA | c.560A>C (p.Asn187Thr) c.479A>C (p.Asn160Thr) c.518A>C (p.Asn173Thr) | |
X | g.154367905T>A | CA415249316 | FLNA | c.559A>T (p.Asn187Tyr) c.478A>T (p.Asn160Tyr) c.517A>T (p.Asn173Tyr) | |
X | g.154367905T>C | CA415249318 | FLNA | c.559A>G (p.Asn187Asp) c.478A>G (p.Asn160Asp) c.517A>G (p.Asn173Asp) | |
X | g.154367905T>G | CA415249326 | FLNA | c.559A>C (p.Asn187His) c.478A>C (p.Asn160His) c.517A>C (p.Asn173His) | |
X | g.154367906G>A | CA519709962 | FLNA | c.558C>T (p.Thr186=) c.477C>T (p.Thr159=) c.516C>T (p.Thr172=) | ClinVar gnomAD v4 |
X | g.154367906G>C | CA519709963 | FLNA | c.558C>G (p.Thr186=) c.477C>G (p.Thr159=) c.516C>G (p.Thr172=) | |
X | g.154367906G>T | CA519709964 | FLNA | c.558C>A (p.Thr186=) c.477C>A (p.Thr159=) c.516C>A (p.Thr172=) | |
X | g.154367907G>A | CA415249328 | FLNA | c.557C>T (p.Thr186Ile) c.476C>T (p.Thr159Ile) c.515C>T (p.Thr172Ile) | |
X | g.154367907G>C | CA415249331 | FLNA | c.557C>G (p.Thr186Ser) c.476C>G (p.Thr159Ser) c.515C>G (p.Thr172Ser) | |
X | g.154367907G>T | CA415249335 | FLNA | c.557C>A (p.Thr186Asn) c.476C>A (p.Thr159Asn) c.515C>A (p.Thr172Asn) | |
X | g.154367908T>A | CA415249340 | FLNA | c.556A>T (p.Thr186Ser) c.475A>T (p.Thr159Ser) c.514A>T (p.Thr172Ser) | |
X | g.154367908T>C | CA415249342 | FLNA | c.556A>G (p.Thr186Ala) c.475A>G (p.Thr159Ala) c.514A>G (p.Thr172Ala) | |
X | g.154367908T>G | CA415249346 | FLNA | c.556A>C (p.Thr186Pro) c.475A>C (p.Thr159Pro) c.514A>C (p.Thr172Pro) | |
X | g.154367909G>A | CA519709966 | FLNA | c.555C>T (p.Ile185=) c.474C>T (p.Ile158=) c.513C>T (p.Ile171=) | |
X | g.154367909G>C | CA415249350 | FLNA | c.555C>G (p.Ile185Met) c.474C>G (p.Ile158Met) c.513C>G (p.Ile171Met) | |
X | g.154367909G>T | CA519709968 | FLNA | c.555C>A (p.Ile185=) c.474C>A (p.Ile158=) c.513C>A (p.Ile171=) | |
X | g.154367910A>C | CA415249365 | FLNA | c.554T>G (p.Ile185Ser) c.473T>G (p.Ile158Ser) c.512T>G (p.Ile171Ser) | |
X | g.154367910A>G | CA415249362 | FLNA | c.554T>C (p.Ile185Thr) c.473T>C (p.Ile158Thr) c.512T>C (p.Ile171Thr) | |
X | g.154367910A>T | CA415249359 | FLNA | c.554T>A (p.Ile185Asn) c.473T>A (p.Ile158Asn) c.512T>A (p.Ile171Asn) | |
X | g.154367911T>A | CA415249371 | FLNA | c.553A>T (p.Ile185Phe) c.472A>T (p.Ile158Phe) c.511A>T (p.Ile171Phe) | |
X | g.154367911T>C | CA415249375 | FLNA | c.553A>G (p.Ile185Val) c.472A>G (p.Ile158Val) c.511A>G (p.Ile171Val) | dbSNP COSMIC COSMIC |
X | g.154367911T>G | CA415249380 | FLNA | c.553A>C (p.Ile185Leu) c.472A>C (p.Ile158Leu) c.511A>C (p.Ile171Leu) | |
X | g.154367911T= | CA2466659062 | FLNA | c.553A= (p.Ile185=) c.472A= (p.Ile158=) c.511A= (p.Ile171=) | |
X | g.154367912G>A | CA519709971 | FLNA | c.552C>T (p.Pro184=) c.471C>T (p.Pro157=) c.510C>T (p.Pro170=) | gnomAD v4 |
X | g.154367912G>C | CA519709972 | FLNA | c.552C>G (p.Pro184=) c.471C>G (p.Pro157=) c.510C>G (p.Pro170=) | |
X | g.154367912G= | CA2466659063 | FLNA | c.552C= (p.Pro184=) c.471C= (p.Pro157=) c.510C= (p.Pro170=) | |
X | g.154367912G>T | CA519709973 | FLNA | c.552C>A (p.Pro184=) c.471C>A (p.Pro157=) c.510C>A (p.Pro170=) | dbSNP |
X | g.154367913G>A | CA415249381 | FLNA | c.551C>T (p.Pro184Leu) c.470C>T (p.Pro157Leu) c.509C>T (p.Pro170Leu) | |
X | g.154367913G>C | CA415249383 | FLNA | c.551C>G (p.Pro184Arg) c.470C>G (p.Pro157Arg) c.509C>G (p.Pro170Arg) | dbSNP |
X | g.154367913G= | CA2466659064 | FLNA | c.551C= (p.Pro184=) c.470C= (p.Pro157=) c.509C= (p.Pro170=) | |
X | g.154367913G>T | CA415249385 | FLNA | c.551C>A (p.Pro184His) c.470C>A (p.Pro157His) c.509C>A (p.Pro170His) | |
X | g.154367914G>A | CA415249387 | FLNA | c.550C>T (p.Pro184Ser) c.469C>T (p.Pro157Ser) c.508C>T (p.Pro170Ser) | |
X | g.154367914G>C | CA415249391 | FLNA | c.550C>G (p.Pro184Ala) c.469C>G (p.Pro157Ala) c.508C>G (p.Pro170Ala) | |
X | g.154367914G>T | CA415249394 | FLNA | c.550C>A (p.Pro184Thr) c.469C>A (p.Pro157Thr) c.508C>A (p.Pro170Thr) | |
X | g.154367915C>A | CA519709977 | FLNA | c.549G>T (p.Leu183=) c.468G>T (p.Leu156=) c.507G>T (p.Leu169=) | |
X | g.154367915C>G | CA519709978 | FLNA | c.549G>C (p.Leu183=) c.468G>C (p.Leu156=) c.507G>C (p.Leu169=) | |
X | g.154367915C>T | CA519709979 | FLNA | c.549G>A (p.Leu183=) c.468G>A (p.Leu156=) c.507G>A (p.Leu169=) | |
X | g.154367916A>C | CA415249400 | FLNA | c.548T>G (p.Leu183Arg) c.467T>G (p.Leu156Arg) c.506T>G (p.Leu169Arg) | |
X | g.154367916A>G | CA415249408 | FLNA | c.548T>C (p.Leu183Pro) c.467T>C (p.Leu156Pro) c.506T>C (p.Leu169Pro) | |
X | g.154367916A>T | CA415249410 | FLNA | c.548T>A (p.Leu183Gln) c.467T>A (p.Leu156Gln) c.506T>A (p.Leu169Gln) | |
X | g.154367917G>A | CA519709983 | FLNA | c.547C>T (p.Leu183=) c.466C>T (p.Leu156=) c.505C>T (p.Leu169=) | |
X | g.154367917G>C | CA415249414 | FLNA | c.547C>G (p.Leu183Val) c.466C>G (p.Leu156Val) c.505C>G (p.Leu169Val) | |
X | g.154367917G>T | CA415249416 | FLNA | c.547C>A (p.Leu183Met) c.466C>A (p.Leu156Met) c.505C>A (p.Leu169Met) | |
X | g.154367918C>A | CA415249425 | FLNA | c.546G>T (p.Gln182His) c.465G>T (p.Gln155His) c.504G>T (p.Gln168His) | |
X | g.154367918C= | CA2466659065 | FLNA | c.546G= (p.Gln182=) c.465G= (p.Gln155=) c.504G= (p.Gln168=) | |
X | g.154367918C>G | CA415249427 | FLNA | c.546G>C (p.Gln182His) c.465G>C (p.Gln155His) c.504G>C (p.Gln168His) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
X | g.154367918C>T | CA519709984 | FLNA | c.546G>A (p.Gln182=) c.465G>A (p.Gln155=) c.504G>A (p.Gln168=) | |
X | g.154367919T>A | CA415249431 | FLNA | c.545A>T (p.Gln182Leu) c.464A>T (p.Gln155Leu) c.503A>T (p.Gln168Leu) | |
X | g.154367919T>C | CA415249434 | FLNA | c.545A>G (p.Gln182Arg) c.464A>G (p.Gln155Arg) c.503A>G (p.Gln168Arg) | ClinVar |
X | g.154367919T>G | CA415249437 | FLNA | c.545A>C (p.Gln182Pro) c.464A>C (p.Gln155Pro) c.503A>C (p.Gln168Pro) | |
X | g.154367920G>A | CA256051 | FLNA | c.544C>T (p.Gln182Ter) c.463C>T (p.Gln155Ter) c.502C>T (p.Gln168Ter) | ClinVar dbSNP |
X | g.154367920G>C | CA415249444 | FLNA | c.544C>G (p.Gln182Glu) c.463C>G (p.Gln155Glu) c.502C>G (p.Gln168Glu) | |
X | g.154367920G= | CA2466659066 | FLNA | c.544C= (p.Gln182=) c.463C= (p.Gln155=) c.502C= (p.Gln168=) | |
X | g.154367920G>T | CA415249446 | FLNA | c.544C>A (p.Gln182Lys) c.463C>A (p.Gln155Lys) c.502C>A (p.Gln168Lys) |