Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.58108460_58108462del | CA2577804084 | FLNB | n.2087_2089del c.1944_1946del (p.Arg649del) c.*476_*478del (n.*476_*478del) c.1437_1439del (p.Arg480del) n.2089_2091del | |
3 | g.58108462G>A | CA2467983 | FLNB | n.2089G>A c.1946G>A (p.Arg649Gln) c.*478G>A (n.*478G>A) c.1439G>A (p.Arg480Gln) n.2091G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.58108462G>C | CA353341880 | FLNB | n.2089G>C c.1946G>C (p.Arg649Pro) c.*478G>C (n.*478G>C) c.1439G>C (p.Arg480Pro) n.2091G>C | dbSNP gnomAD v3 gnomAD v4 |
3 | g.58108462G= | CA1367500126 | FLNB | n.2089G= c.1946G= (p.Arg649=) c.*478G= (n.*478G=) c.1439G= (p.Arg480=) n.2091G= | |
3 | g.58108462G>T | CA353341883 | FLNB | n.2089G>T c.1946G>T (p.Arg649Leu) c.*478G>T (n.*478G>T) c.1439G>T (p.Arg480Leu) n.2091G>T | dbSNP |
3 | g.58108463A= | CA1367500127 | FLNB | n.2090A= c.1947A= (p.Arg649=) c.*479A= (n.*479A=) c.1440A= (p.Arg480=) n.2092A= | |
3 | g.58108463A>C | CA434030104 | FLNB | n.2090A>C c.1947A>C (p.Arg649=) c.*479A>C (n.*479A>C) c.1440A>C (p.Arg480=) n.2092A>C | dbSNP gnomAD v3 gnomAD v4 |
3 | g.58108463A>G | CA2467984 | FLNB | n.2090A>G c.1947A>G (p.Arg649=) c.*479A>G (n.*479A>G) c.1440A>G (p.Arg480=) n.2092A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.58108463A>T | CA434030108 | FLNB | n.2090A>T c.1947A>T (p.Arg649=) c.*479A>T (n.*479A>T) c.1440A>T (p.Arg480=) n.2092A>T | |
3 | g.58108464G>A | CA353341899 | FLNB | n.2091G>A c.1948G>A (p.Ala650Thr) c.*480G>A (n.*480G>A) c.1441G>A (p.Ala481Thr) n.2093G>A | gnomAD v4 |
3 | g.58108464G>C | CA353341894 | FLNB | n.2091G>C c.1948G>C (p.Ala650Pro) c.*480G>C (n.*480G>C) c.1441G>C (p.Ala481Pro) n.2093G>C | |
3 | g.58108464G>T | CA353341890 | FLNB | n.2091G>T c.1948G>T (p.Ala650Ser) c.*480G>T (n.*480G>T) c.1441G>T (p.Ala481Ser) n.2093G>T | |
3 | g.58108465C>A | CA353341905 | FLNB | n.2092C>A c.1949C>A (p.Ala650Glu) c.*481C>A (n.*481C>A) c.1442C>A (p.Ala481Glu) n.2094C>A | gnomAD v4 |
3 | g.58108465C>G | CA353341910 | FLNB | n.2092C>G c.1949C>G (p.Ala650Gly) c.*481C>G (n.*481C>G) c.1442C>G (p.Ala481Gly) n.2094C>G | |
3 | g.58108465C>T | CA353341915 | FLNB | n.2092C>T c.1949C>T (p.Ala650Val) c.*481C>T (n.*481C>T) c.1442C>T (p.Ala481Val) n.2094C>T | gnomAD v4 |
3 | g.58108466A= | CA1367500128 | FLNB | n.2093A= c.1950A= (p.Ala650=) c.*482A= (n.*482A=) c.1443A= (p.Ala481=) n.2095A= | |
3 | g.58108466A>C | CA434030126 | FLNB | n.2093A>C c.1950A>C (p.Ala650=) c.*482A>C (n.*482A>C) c.1443A>C (p.Ala481=) n.2095A>C | gnomAD v4 |
3 | g.58108466A>G | CA434030129 | FLNB | n.2093A>G c.1950A>G (p.Ala650=) c.*482A>G (n.*482A>G) c.1443A>G (p.Ala481=) n.2095A>G | dbSNP gnomAD v2 gnomAD v4 |
3 | g.58108466A>T | CA434030131 | FLNB | n.2093A>T c.1950A>T (p.Ala650=) c.*482A>T (n.*482A>T) c.1443A>T (p.Ala481=) n.2095A>T | |
3 | g.58108467T>A | CA353341922 | FLNB | n.2094T>A c.1951T>A (p.Tyr651Asn) c.*483T>A (n.*483T>A) c.1444T>A (p.Tyr482Asn) n.2096T>A | |
3 | g.58108467T>C | CA353341924 | FLNB | n.2094T>C c.1951T>C (p.Tyr651His) c.*483T>C (n.*483T>C) c.1444T>C (p.Tyr482His) n.2096T>C | gnomAD v4 |
3 | g.58108467T>G | CA353341926 | FLNB | n.2094T>G c.1951T>G (p.Tyr651Asp) c.*483T>G (n.*483T>G) c.1444T>G (p.Tyr482Asp) n.2096T>G | |
3 | g.58108468A= | CA1367500129 | FLNB | n.2095A= c.1952A= (p.Tyr651=) c.*484A= (n.*484A=) c.1445A= (p.Tyr482=) n.2097A= | |
3 | g.58108468A>C | CA353341928 | FLNB | n.2095A>C c.1952A>C (p.Tyr651Ser) c.*484A>C (n.*484A>C) c.1445A>C (p.Tyr482Ser) n.2097A>C | |
3 | g.58108468A>G | CA353341940 | FLNB | n.2095A>G c.1952A>G (p.Tyr651Cys) c.*484A>G (n.*484A>G) c.1445A>G (p.Tyr482Cys) n.2097A>G | dbSNP gnomAD v3 gnomAD v4 |
3 | g.58108468A>T | CA353341936 | FLNB | n.2095A>T c.1952A>T (p.Tyr651Phe) c.*484A>T (n.*484A>T) c.1445A>T (p.Tyr482Phe) n.2097A>T | |
3 | g.58108469C>A | CA353341945 | FLNB | n.2096C>A c.1953C>A (p.Tyr651Ter) c.*485C>A (n.*485C>A) c.1446C>A (p.Tyr482Ter) n.2098C>A | gnomAD v4 |
3 | g.58108469C= | CA1367500130 | FLNB | n.2096C= c.1953C= (p.Tyr651=) c.*485C= (n.*485C=) c.1446C= (p.Tyr482=) n.2098C= | |
3 | g.58108469C>G | CA353341953 | FLNB | n.2096C>G c.1953C>G (p.Tyr651Ter) c.*485C>G (n.*485C>G) c.1446C>G (p.Tyr482Ter) n.2098C>G | dbSNP gnomAD v4 |
3 | g.58108469C>T | CA2467985 | FLNB | n.2096C>T c.1953C>T (p.Tyr651=) c.*485C>T (n.*485C>T) c.1446C>T (p.Tyr482=) n.2098C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.58108470G>A | CA353341959 | FLNB | n.2097G>A c.1954G>A (p.Gly652Arg) c.*486G>A (n.*486G>A) c.1447G>A (p.Gly483Arg) n.2099G>A | dbSNP gnomAD v4 |
3 | g.58108470G>C | CA353341960 | FLNB | n.2097G>C c.1954G>C (p.Gly652Arg) c.*486G>C (n.*486G>C) c.1447G>C (p.Gly483Arg) n.2099G>C | |
3 | g.58108470G= | CA1367500131 | FLNB | n.2097G= c.1954G= (p.Gly652=) c.*486G= (n.*486G=) c.1447G= (p.Gly483=) n.2099G= | |
3 | g.58108470G>T | CA353341961 | FLNB | n.2097G>T c.1954G>T (p.Gly652Trp) c.*486G>T (n.*486G>T) c.1447G>T (p.Gly483Trp) n.2099G>T | |
3 | g.58108471G>A | CA353341965 | FLNB | n.2098G>A c.1955G>A (p.Gly652Glu) c.*487G>A (n.*487G>A) c.1448G>A (p.Gly483Glu) n.2100G>A | |
3 | g.58108471G>C | CA353341970 | FLNB | n.2098G>C c.1955G>C (p.Gly652Ala) c.*487G>C (n.*487G>C) c.1448G>C (p.Gly483Ala) n.2100G>C | |
3 | g.58108471G>T | CA353341973 | FLNB | n.2098G>T c.1955G>T (p.Gly652Val) c.*487G>T (n.*487G>T) c.1448G>T (p.Gly483Val) n.2100G>T | |
3 | g.58108472G>A | CA434030167 | FLNB | n.2099G>A c.1956G>A (p.Gly652=) c.*488G>A (n.*488G>A) c.1449G>A (p.Gly483=) n.2101G>A | gnomAD v4 |
3 | g.58108472G>C | CA434030170 | FLNB | n.2099G>C c.1956G>C (p.Gly652=) c.*488G>C (n.*488G>C) c.1449G>C (p.Gly483=) n.2101G>C | |
3 | g.58108472G= | CA1367500132 | FLNB | n.2099G= c.1956G= (p.Gly652=) c.*488G= (n.*488G=) c.1449G= (p.Gly483=) n.2101G= | |
3 | g.58108472G>T | CA434030172 | FLNB | n.2099G>T c.1956G>T (p.Gly652=) c.*488G>T (n.*488G>T) c.1449G>T (p.Gly483=) n.2101G>T | dbSNP gnomAD v4 |
3 | g.58108473C>A | CA353341976 | FLNB | n.2100C>A c.1957C>A (p.Pro653Thr) c.*489C>A (n.*489C>A) c.1450C>A (p.Pro484Thr) n.2102C>A | gnomAD v4 |
3 | g.58108473C>G | CA353341979 | FLNB | n.2100C>G c.1957C>G (p.Pro653Ala) c.*489C>G (n.*489C>G) c.1450C>G (p.Pro484Ala) n.2102C>G | |
3 | g.58108473C>T | CA353341981 | FLNB | n.2100C>T c.1957C>T (p.Pro653Ser) c.*489C>T (n.*489C>T) c.1450C>T (p.Pro484Ser) n.2102C>T | |
3 | g.58108474C>A | CA353341985 | FLNB | n.2101C>A c.1958C>A (p.Pro653Gln) c.*490C>A (n.*490C>A) c.1451C>A (p.Pro484Gln) n.2103C>A | |
3 | g.58108474C>G | CA353341990 | FLNB | n.2101C>G c.1958C>G (p.Pro653Arg) c.*490C>G (n.*490C>G) c.1451C>G (p.Pro484Arg) n.2103C>G | |
3 | g.58108474C>T | CA353341988 | FLNB | n.2101C>T c.1958C>T (p.Pro653Leu) c.*490C>T (n.*490C>T) c.1451C>T (p.Pro484Leu) n.2103C>T | |
3 | g.58108475A>C | CA434030192 | FLNB | n.2102A>C c.1959A>C (p.Pro653=) c.*491A>C (n.*491A>C) c.1452A>C (p.Pro484=) n.2104A>C | |
3 | g.58108475A>G | CA434030196 | FLNB | n.2102A>G c.1959A>G (p.Pro653=) c.*491A>G (n.*491A>G) c.1452A>G (p.Pro484=) n.2104A>G | |
3 | g.58108475A>T | CA434030200 | FLNB | n.2102A>T c.1959A>T (p.Pro653=) c.*491A>T (n.*491A>T) c.1452A>T (p.Pro484=) n.2104A>T | |
3 | g.58108476G>A | CA353341994 | FLNB | n.2103G>A c.1960G>A (p.Gly654Ser) c.*492G>A (n.*492G>A) c.1453G>A (p.Gly485Ser) n.2105G>A | |
3 | g.58108476G>C | CA353341995 | FLNB | n.2103G>C c.1960G>C (p.Gly654Arg) c.*492G>C (n.*492G>C) c.1453G>C (p.Gly485Arg) n.2105G>C | |
3 | g.58108476G>T | CA353341996 | FLNB | n.2103G>T c.1960G>T (p.Gly654Cys) c.*492G>T (n.*492G>T) c.1453G>T (p.Gly485Cys) n.2105G>T | |
3 | g.58108477G>A | CA353341999 | FLNB | n.2104G>A c.1961G>A (p.Gly654Asp) c.*493G>A (n.*493G>A) c.1454G>A (p.Gly485Asp) n.2106G>A | |
3 | g.58108477G>C | CA353342001 | FLNB | n.2104G>C c.1961G>C (p.Gly654Ala) c.*493G>C (n.*493G>C) c.1454G>C (p.Gly485Ala) n.2106G>C | |
3 | g.58108477G>T | CA353342004 | FLNB | n.2104G>T c.1961G>T (p.Gly654Val) c.*493G>T (n.*493G>T) c.1454G>T (p.Gly485Val) n.2106G>T | |
3 | g.58108478T>A | CA434030219 | FLNB | n.2105T>A c.1962T>A (p.Gly654=) c.*494T>A (n.*494T>A) c.1455T>A (p.Gly485=) n.2107T>A | |
3 | g.58108478T>C | CA434030231 | FLNB | n.2105T>C c.1962T>C (p.Gly654=) c.*494T>C (n.*494T>C) c.1455T>C (p.Gly485=) n.2107T>C | gnomAD v4 |
3 | g.58108478T>G | CA434030234 | FLNB | n.2105T>G c.1962T>G (p.Gly654=) c.*494T>G (n.*494T>G) c.1455T>G (p.Gly485=) n.2107T>G | |
3 | g.58108478_58108479insA | CA645538873 | FLNB | n.2105_2106insA c.1962_1963insA (p.Leu655IlefsTer19) c.*494_*495insA (n.*494_*495insA) c.1455_1456insA (p.Leu486IlefsTer19) n.2107_2108insA | COSMIC COSMIC |
3 | g.58108479T>A | CA353342005 | FLNB | n.2106T>A c.1963T>A (p.Leu655Met) c.*495T>A (n.*495T>A) c.1456T>A (p.Leu486Met) n.2108T>A | |
3 | g.58108479T>C | CA434030248 | FLNB | n.2106T>C c.1963T>C (p.Leu655=) c.*495T>C (n.*495T>C) c.1456T>C (p.Leu486=) n.2108T>C | |
3 | g.58108479T>G | CA353342006 | FLNB | n.2106T>G c.1963T>G (p.Leu655Val) c.*495T>G (n.*495T>G) c.1456T>G (p.Leu486Val) n.2108T>G | |
3 | g.58108479_58108480insA | CA434030261 | FLNB | n.2106_2107insA c.1963_1964insA (p.Leu655TyrfsTer19) c.*495_*496insA (n.*495_*496insA) c.1456_1457insA (p.Leu486TyrfsTer19) n.2108_2109insA | |
3 | g.58108480T>A | CA353342008 | FLNB | n.2107T>A c.1964T>A (p.Leu655Ter) c.*496T>A (n.*496T>A) c.1457T>A (p.Leu486Ter) n.2109T>A | |
3 | g.58108480T>C | CA353342009 | FLNB | n.2107T>C c.1964T>C (p.Leu655Ser) c.*496T>C (n.*496T>C) c.1457T>C (p.Leu486Ser) n.2109T>C | |
3 | g.58108480T>G | CA353342021 | FLNB | n.2107T>G c.1964T>G (p.Leu655Trp) c.*496T>G (n.*496T>G) c.1457T>G (p.Leu486Trp) n.2109T>G | |
3 | g.58108481G>A | CA434030279 | FLNB | n.2108G>A c.1965G>A (p.Leu655=) c.*497G>A (n.*497G>A) c.1458G>A (p.Leu486=) n.2110G>A | |
3 | g.58108481G>C | CA353342025 | FLNB | n.2108G>C c.1965G>C (p.Leu655Phe) c.*497G>C (n.*497G>C) c.1458G>C (p.Leu486Phe) n.2110G>C | |
3 | g.58108481G>T | CA353342028 | FLNB | n.2108G>T c.1965G>T (p.Leu655Phe) c.*497G>T (n.*497G>T) c.1458G>T (p.Leu486Phe) n.2110G>T | |
3 | g.58108482G>A | CA353342032 | FLNB | n.2109G>A c.1966G>A (p.Glu656Lys) c.*498G>A (n.*498G>A) c.1459G>A (p.Glu487Lys) n.2111G>A | |
3 | g.58108482G>C | CA353342036 | FLNB | n.2109G>C c.1966G>C (p.Glu656Gln) c.*498G>C (n.*498G>C) c.1459G>C (p.Glu487Gln) n.2111G>C | |
3 | g.58108482G>T | CA353342034 | FLNB | n.2109G>T c.1966G>T (p.Glu656Ter) c.*498G>T (n.*498G>T) c.1459G>T (p.Glu487Ter) n.2111G>T | |
3 | g.58108483A= | CA1367500133 | FLNB | n.2110A= c.1967A= (p.Glu656=) c.*499A= (n.*499A=) c.1460A= (p.Glu487=) n.2112A= | |
3 | g.58108483A>C | CA353342040 | FLNB | n.2110A>C c.1967A>C (p.Glu656Ala) c.*499A>C (n.*499A>C) c.1460A>C (p.Glu487Ala) n.2112A>C | |
3 | g.58108483A>G | CA353342043 | FLNB | n.2110A>G c.1967A>G (p.Glu656Gly) c.*499A>G (n.*499A>G) c.1460A>G (p.Glu487Gly) n.2112A>G | dbSNP COSMIC COSMIC COSMIC |
3 | g.58108483A>T | CA353342046 | FLNB | n.2110A>T c.1967A>T (p.Glu656Val) c.*499A>T (n.*499A>T) c.1460A>T (p.Glu487Val) n.2112A>T | |
3 | g.58108484G>A | CA434030298 | FLNB | n.2111G>A c.1968G>A (p.Glu656=) c.*500G>A (n.*500G>A) c.1461G>A (p.Glu487=) n.2113G>A | gnomAD v4 |
3 | g.58108484G>C | CA353342049 | FLNB | n.2111G>C c.1968G>C (p.Glu656Asp) c.*500G>C (n.*500G>C) c.1461G>C (p.Glu487Asp) n.2113G>C | |
3 | g.58108484G>T | CA353342052 | FLNB | n.2111G>T c.1968G>T (p.Glu656Asp) c.*500G>T (n.*500G>T) c.1461G>T (p.Glu487Asp) n.2113G>T | |
3 | g.58108485A>C | CA353342056 | FLNB | n.2112A>C c.1969A>C (p.Lys657Gln) c.*501A>C (n.*501A>C) c.1462A>C (p.Lys488Gln) n.2114A>C | |
3 | g.58108485A>G | CA353342058 | FLNB | n.2112A>G c.1969A>G (p.Lys657Glu) c.*501A>G (n.*501A>G) c.1462A>G (p.Lys488Glu) n.2114A>G | |
3 | g.58108485A>T | CA353342059 | FLNB | n.2112A>T c.1969A>T (p.Lys657Ter) c.*501A>T (n.*501A>T) c.1462A>T (p.Lys488Ter) n.2114A>T | |
3 | g.58108487del | CA2666263212 | FLNB | n.2114del c.1971del (p.Lys657AsnfsTer24) c.*503del (n.*503del) c.1464del (p.Lys488AsnfsTer24) n.2116del | gnomAD v4 |
3 | g.58108486A= | CA1367500134 | FLNB | n.2113A= c.1970A= (p.Lys657=) c.*502A= (n.*502A=) c.1463A= (p.Lys488=) n.2115A= | |
3 | g.58108486A>C | CA353342063 | FLNB | n.2113A>C c.1970A>C (p.Lys657Thr) c.*502A>C (n.*502A>C) c.1463A>C (p.Lys488Thr) n.2115A>C | dbSNP gnomAD v2 gnomAD v4 |
3 | g.58108486A>G | CA353342066 | FLNB | n.2113A>G c.1970A>G (p.Lys657Arg) c.*502A>G (n.*502A>G) c.1463A>G (p.Lys488Arg) n.2115A>G | |
3 | g.58108486A>T | CA353342069 | FLNB | n.2113A>T c.1970A>T (p.Lys657Ile) c.*502A>T (n.*502A>T) c.1463A>T (p.Lys488Ile) n.2115A>T | |
3 | g.58108487A>C | CA353342072 | FLNB | n.2114A>C c.1971A>C (p.Lys657Asn) c.*503A>C (n.*503A>C) c.1464A>C (p.Lys488Asn) n.2116A>C | |
3 | g.58108487A>G | CA434030313 | FLNB | n.2114A>G c.1971A>G (p.Lys657=) c.*503A>G (n.*503A>G) c.1464A>G (p.Lys488=) n.2116A>G | |
3 | g.58108487A>T | CA353342075 | FLNB | n.2114A>T c.1971A>T (p.Lys657Asn) c.*503A>T (n.*503A>T) c.1464A>T (p.Lys488Asn) n.2116A>T | |
3 | g.58108488T>A | CA353342078 | FLNB | n.2115T>A c.1972T>A (p.Ser658Thr) c.*504T>A (n.*504T>A) c.1465T>A (p.Ser489Thr) n.2117T>A | |
3 | g.58108488T>C | CA353342084 | FLNB | n.2115T>C c.1972T>C (p.Ser658Pro) c.*504T>C (n.*504T>C) c.1465T>C (p.Ser489Pro) n.2117T>C | |
3 | g.58108488T>G | CA353342080 | FLNB | n.2115T>G c.1972T>G (p.Ser658Ala) c.*504T>G (n.*504T>G) c.1465T>G (p.Ser489Ala) n.2117T>G | |
3 | g.58108489C>A | CA353342087 | FLNB | n.2116C>A c.1973C>A (p.Ser658Tyr) c.*505C>A (n.*505C>A) c.1466C>A (p.Ser489Tyr) n.2118C>A | dbSNP gnomAD v4 |
3 | g.58108489C= | CA1367500135 | FLNB | n.2116C= c.1973C= (p.Ser658=) c.*505C= (n.*505C=) c.1466C= (p.Ser489=) n.2118C= | |
3 | g.58108489C>G | CA353342088 | FLNB | n.2116C>G c.1973C>G (p.Ser658Cys) c.*505C>G (n.*505C>G) c.1466C>G (p.Ser489Cys) n.2118C>G | |
3 | g.58108489C>T | CA353342100 | FLNB | n.2116C>T c.1973C>T (p.Ser658Phe) c.*505C>T (n.*505C>T) c.1466C>T (p.Ser489Phe) n.2118C>T | |
3 | g.58108490T>A | CA434030347 | FLNB | n.2117T>A c.1974T>A (p.Ser658=) c.*506T>A (n.*506T>A) c.1467T>A (p.Ser489=) n.2119T>A | |
3 | g.58108490T>C | CA434030354 | FLNB | n.2117T>C c.1974T>C (p.Ser658=) c.*506T>C (n.*506T>C) c.1467T>C (p.Ser489=) n.2119T>C | |
3 | g.58108490T>G | CA434030358 | FLNB | n.2117T>G c.1974T>G (p.Ser658=) c.*506T>G (n.*506T>G) c.1467T>G (p.Ser489=) n.2119T>G | |
3 | g.58108491G>A | CA353342104 | FLNB | n.2118G>A c.1975G>A (p.Gly659Arg) c.*507G>A (n.*507G>A) c.1468G>A (p.Gly490Arg) n.2120G>A | COSMIC COSMIC |
3 | g.58108491G>C | CA2467986 | FLNB | n.2118G>C c.1975G>C (p.Gly659Arg) c.*507G>C (n.*507G>C) c.1468G>C (p.Gly490Arg) n.2120G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.58108491G= | CA1367500136 | FLNB | n.2118G= c.1975G= (p.Gly659=) c.*507G= (n.*507G=) c.1468G= (p.Gly490=) n.2120G= | |
3 | g.58108491G>T | CA353342110 | FLNB | n.2118G>T c.1975G>T (p.Gly659Ter) c.*507G>T (n.*507G>T) c.1468G>T (p.Gly490Ter) n.2120G>T | |
3 | g.58108492G>A | CA2467987 | FLNB | n.2119G>A c.1976G>A (p.Gly659Glu) c.*508G>A (n.*508G>A) c.1469G>A (p.Gly490Glu) n.2121G>A | dbSNP ExAC gnomAD v2 |
3 | g.58108492G>C | CA353342117 | FLNB | n.2119G>C c.1976G>C (p.Gly659Ala) c.*508G>C (n.*508G>C) c.1469G>C (p.Gly490Ala) n.2121G>C | |
3 | g.58108492G= | CA1367500137 | FLNB | n.2119G= c.1976G= (p.Gly659=) c.*508G= (n.*508G=) c.1469G= (p.Gly490=) n.2121G= | |
3 | g.58108492G>T | CA353342120 | FLNB | n.2119G>T c.1976G>T (p.Gly659Val) c.*508G>T (n.*508G>T) c.1469G>T (p.Gly490Val) n.2121G>T | COSMIC COSMIC COSMIC |
3 | g.58108493A>C | CA434030370 | FLNB | n.2120A>C c.1977A>C (p.Gly659=) c.*509A>C (n.*509A>C) c.1470A>C (p.Gly490=) n.2122A>C | |
3 | g.58108493A>G | CA434030372 | FLNB | n.2120A>G c.1977A>G (p.Gly659=) c.*509A>G (n.*509A>G) c.1470A>G (p.Gly490=) n.2122A>G | dbSNP |
3 | g.58108493A>T | CA434030371 | FLNB | n.2120A>T c.1977A>T (p.Gly659=) c.*509A>T (n.*509A>T) c.1470A>T (p.Gly490=) n.2122A>T | |
3 | g.58108494T>A | CA353342125 | FLNB | n.2121T>A c.1978T>A (p.Cys660Ser) c.*510T>A (n.*510T>A) c.1471T>A (p.Cys491Ser) n.2123T>A | |
3 | g.58108494T>C | CA353342128 | FLNB | n.2121T>C c.1978T>C (p.Cys660Arg) c.*510T>C (n.*510T>C) c.1471T>C (p.Cys491Arg) n.2123T>C | |
3 | g.58108494T>G | CA353342130 | FLNB | n.2121T>G c.1978T>G (p.Cys660Gly) c.*510T>G (n.*510T>G) c.1471T>G (p.Cys491Gly) n.2123T>G | dbSNP gnomAD v3 gnomAD v4 |
3 | g.58108494T= | CA1367500138 | FLNB | n.2121T= c.1978T= (p.Cys660=) c.*510T= (n.*510T=) c.1471T= (p.Cys491=) n.2123T= | |
3 | g.58108495G>A | CA353342132 | FLNB | n.2122G>A c.1979G>A (p.Cys660Tyr) c.*511G>A (n.*511G>A) c.1472G>A (p.Cys491Tyr) n.2124G>A | |
3 | g.58108495G>C | CA353342139 | FLNB | n.2122G>C c.1979G>C (p.Cys660Ser) c.*511G>C (n.*511G>C) c.1472G>C (p.Cys491Ser) n.2124G>C | |
3 | g.58108495G>T | CA353342136 | FLNB | n.2122G>T c.1979G>T (p.Cys660Phe) c.*511G>T (n.*511G>T) c.1472G>T (p.Cys491Phe) n.2124G>T | |
3 | g.58108496C>A | CA353342143 | FLNB | n.2123C>A c.1980C>A (p.Cys660Ter) c.*512C>A (n.*512C>A) c.1473C>A (p.Cys491Ter) n.2125C>A | |
3 | g.58108496C= | CA1367500139 | FLNB | n.2123C= c.1980C= (p.Cys660=) c.*512C= (n.*512C=) c.1473C= (p.Cys491=) n.2125C= | |
3 | g.58108496C>G | CA353342146 | FLNB | n.2123C>G c.1980C>G (p.Cys660Trp) c.*512C>G (n.*512C>G) c.1473C>G (p.Cys491Trp) n.2125C>G | ClinVar |
3 | g.58108496C>T | CA2467988 | FLNB | n.2123C>T c.1980C>T (p.Cys660=) c.*512C>T (n.*512C>T) c.1473C>T (p.Cys491=) n.2125C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.58108497A= | CA1367500140 | FLNB | n.2124A= c.1981A= (p.Ile661=) c.*513A= (n.*513A=) c.1474A= (p.Ile492=) n.2126A= | |
3 | g.58108497A>C | CA353342153 | FLNB | n.2124A>C c.1981A>C (p.Ile661Leu) c.*513A>C (n.*513A>C) c.1474A>C (p.Ile492Leu) n.2126A>C | |
3 | g.58108497A>G | CA2467989 | FLNB | n.2124A>G c.1981A>G (p.Ile661Val) c.*513A>G (n.*513A>G) c.1474A>G (p.Ile492Val) n.2126A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.58108497A>T | CA353342158 | FLNB | n.2124A>T c.1981A>T (p.Ile661Phe) c.*513A>T (n.*513A>T) c.1474A>T (p.Ile492Phe) n.2126A>T | |
3 | g.58108498T>A | CA353342164 | FLNB | n.2125T>A c.1982T>A (p.Ile661Asn) c.*514T>A (n.*514T>A) c.1475T>A (p.Ile492Asn) n.2127T>A | |
3 | g.58108498T>C | CA353342165 | FLNB | n.2125T>C c.1982T>C (p.Ile661Thr) c.*514T>C (n.*514T>C) c.1475T>C (p.Ile492Thr) n.2127T>C | dbSNP gnomAD v4 |
3 | g.58108498T>G | CA353342169 | FLNB | n.2125T>G c.1982T>G (p.Ile661Ser) c.*514T>G (n.*514T>G) c.1475T>G (p.Ile492Ser) n.2127T>G | |
3 | g.58108498T= | CA1367500141 | FLNB | n.2125T= c.1982T= (p.Ile661=) c.*514T= (n.*514T=) c.1475T= (p.Ile492=) n.2127T= | |
3 | g.58108499T>A | CA434030403 | FLNB | n.2126T>A c.1983T>A (p.Ile661=) c.*515T>A (n.*515T>A) c.1476T>A (p.Ile492=) n.2128T>A | |
3 | g.58108499T>C | CA434030406 | FLNB | n.2126T>C c.1983T>C (p.Ile661=) c.*515T>C (n.*515T>C) c.1476T>C (p.Ile492=) n.2128T>C | |
3 | g.58108499T>G | CA353342172 | FLNB | n.2126T>G c.1983T>G (p.Ile661Met) c.*515T>G (n.*515T>G) c.1476T>G (p.Ile492Met) n.2128T>G | |
3 | g.58108500G>A | CA353342181 | FLNB | n.2127G>A c.1984G>A (p.Val662Ile) c.*516G>A (n.*516G>A) c.1477G>A (p.Val493Ile) n.2129G>A | dbSNP gnomAD v4 |
3 | g.58108500G>C | CA353342183 | FLNB | n.2127G>C c.1984G>C (p.Val662Leu) c.*516G>C (n.*516G>C) c.1477G>C (p.Val493Leu) n.2129G>C | |
3 | g.58108500G= | CA1367500142 | FLNB | n.2127G= c.1984G= (p.Val662=) c.*516G= (n.*516G=) c.1477G= (p.Val493=) n.2129G= | |
3 | g.58108500G>T | CA353342178 | FLNB | n.2127G>T c.1984G>T (p.Val662Phe) c.*516G>T (n.*516G>T) c.1477G>T (p.Val493Phe) n.2129G>T | |
3 | g.58108501T>A | CA353342187 | FLNB | n.2128T>A c.1985T>A (p.Val662Asp) c.*517T>A (n.*517T>A) c.1478T>A (p.Val493Asp) n.2130T>A | |
3 | g.58108501T>C | CA353342190 | FLNB | n.2128T>C c.1985T>C (p.Val662Ala) c.*517T>C (n.*517T>C) c.1478T>C (p.Val493Ala) n.2130T>C | gnomAD v4 |
3 | g.58108501T>G | CA353342191 | FLNB | n.2128T>G c.1985T>G (p.Val662Gly) c.*517T>G (n.*517T>G) c.1478T>G (p.Val493Gly) n.2130T>G | |
3 | g.58108502C>A | CA434030441 | FLNB | n.2129C>A c.1986C>A (p.Val662=) c.*518C>A (n.*518C>A) c.1479C>A (p.Val493=) n.2131C>A | |
3 | g.58108502C= | CA1367500143 | FLNB | n.2129C= c.1986C= (p.Val662=) c.*518C= (n.*518C=) c.1479C= (p.Val493=) n.2131C= | |
3 | g.58108502C>G | CA2467990 | FLNB | n.2129C>G c.1986C>G (p.Val662=) c.*518C>G (n.*518C>G) c.1479C>G (p.Val493=) n.2131C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.58108502C>T | CA434030439 | FLNB | n.2129C>T c.1986C>T (p.Val662=) c.*518C>T (n.*518C>T) c.1479C>T (p.Val493=) n.2131C>T | dbSNP gnomAD v2 |
3 | g.58108503A= | CA1367500144 | FLNB | n.2130A= c.1987A= (p.Asn663=) c.*519A= (n.*519A=) c.1480A= (p.Asn494=) n.2132A= | |
3 | g.58108503A>C | CA353342197 | FLNB | n.2130A>C c.1987A>C (p.Asn663His) c.*519A>C (n.*519A>C) c.1480A>C (p.Asn494His) n.2132A>C | ClinVar gnomAD v4 |
3 | g.58108503A>G | CA353342201 | FLNB | n.2130A>G c.1987A>G (p.Asn663Asp) c.*519A>G (n.*519A>G) c.1480A>G (p.Asn494Asp) n.2132A>G | dbSNP gnomAD v3 gnomAD v4 |
3 | g.58108503A>T | CA353342203 | FLNB | n.2130A>T c.1987A>T (p.Asn663Tyr) c.*519A>T (n.*519A>T) c.1480A>T (p.Asn494Tyr) n.2132A>T | |
3 | g.58108504A>C | CA353342207 | FLNB | n.2131A>C c.1988A>C (p.Asn663Thr) c.*520A>C (n.*520A>C) c.1481A>C (p.Asn494Thr) n.2133A>C | |
3 | g.58108504A>G | CA353342209 | FLNB | n.2131A>G c.1988A>G (p.Asn663Ser) c.*520A>G (n.*520A>G) c.1481A>G (p.Asn494Ser) n.2133A>G | |
3 | g.58108504A>T | CA353342211 | FLNB | n.2131A>T c.1988A>T (p.Asn663Ile) c.*520A>T (n.*520A>T) c.1481A>T (p.Asn494Ile) n.2133A>T | |
3 | g.58108505C>A | CA353342215 | FLNB | n.2132C>A c.1989C>A (p.Asn663Lys) c.*521C>A (n.*521C>A) c.1482C>A (p.Asn494Lys) n.2134C>A | COSMIC |
3 | g.58108505C>G | CA353342218 | FLNB | n.2132C>G c.1989C>G (p.Asn663Lys) c.*521C>G (n.*521C>G) c.1482C>G (p.Asn494Lys) n.2134C>G | |
3 | g.58108505C>T | CA434030452 | FLNB | n.2132C>T c.1989C>T (p.Asn663=) c.*521C>T (n.*521C>T) c.1482C>T (p.Asn494=) n.2134C>T | |
3 | g.58108506A= | CA1367500145 | FLNB | n.2133A= c.1990A= (p.Asn664=) c.*522A= (n.*522A=) c.1483A= (p.Asn495=) n.2135A= | |
3 | g.58108506A>C | CA353342223 | FLNB | n.2133A>C c.1990A>C (p.Asn664His) c.*522A>C (n.*522A>C) c.1483A>C (p.Asn495His) n.2135A>C | |
3 | g.58108506A>G | CA2467991 | FLNB | n.2133A>G c.1990A>G (p.Asn664Asp) c.*522A>G (n.*522A>G) c.1483A>G (p.Asn495Asp) n.2135A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.58108506A>T | CA353342222 | FLNB | n.2133A>T c.1990A>T (p.Asn664Tyr) c.*522A>T (n.*522A>T) c.1483A>T (p.Asn495Tyr) n.2135A>T | gnomAD v4 |
3 | g.58108507A= | CA1367500146 | FLNB | n.2134A= c.1991A= (p.Asn664=) c.*523A= (n.*523A=) c.1484A= (p.Asn495=) n.2136A= | |
3 | g.58108507A>C | CA353342227 | FLNB | n.2134A>C c.1991A>C (p.Asn664Thr) c.*523A>C (n.*523A>C) c.1484A>C (p.Asn495Thr) n.2136A>C | |
3 | g.58108507A>G | CA353342228 | FLNB | n.2134A>G c.1991A>G (p.Asn664Ser) c.*523A>G (n.*523A>G) c.1484A>G (p.Asn495Ser) n.2136A>G | ClinVar dbSNP gnomAD v4 |
3 | g.58108507A>T | CA353342230 | FLNB | n.2134A>T c.1991A>T (p.Asn664Ile) c.*523A>T (n.*523A>T) c.1484A>T (p.Asn495Ile) n.2136A>T | |
3 | g.58108508C>A | CA353342233 | FLNB | n.2135C>A c.1992C>A (p.Asn664Lys) c.*524C>A (n.*524C>A) c.1485C>A (p.Asn495Lys) n.2137C>A | |
3 | g.58108508C= | CA1367500147 | FLNB | n.2135C= c.1992C= (p.Asn664=) c.*524C= (n.*524C=) c.1485C= (p.Asn495=) n.2137C= | |
3 | g.58108508C>G | CA353342234 | FLNB | n.2135C>G c.1992C>G (p.Asn664Lys) c.*524C>G (n.*524C>G) c.1485C>G (p.Asn495Lys) n.2137C>G | dbSNP gnomAD v2 gnomAD v4 |
3 | g.58108508C>T | CA2467992 | FLNB | n.2135C>T c.1992C>T (p.Asn664=) c.*524C>T (n.*524C>T) c.1485C>T (p.Asn495=) n.2137C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.58108509C>A | CA353342239 | FLNB | n.2136C>A c.1993C>A (p.Leu665Met) c.*525C>A (n.*525C>A) c.1486C>A (p.Leu496Met) n.2138C>A | |
3 | g.58108509C= | CA1367500148 | FLNB | n.2136C= c.1993C= (p.Leu665=) c.*525C= (n.*525C=) c.1486C= (p.Leu496=) n.2138C= | |
3 | g.58108509C>G | CA353342238 | FLNB | n.2136C>G c.1993C>G (p.Leu665Val) c.*525C>G (n.*525C>G) c.1486C>G (p.Leu496Val) n.2138C>G | |
3 | g.58108509C>T | CA434030473 | FLNB | n.2136C>T c.1993C>T (p.Leu665=) c.*525C>T (n.*525C>T) c.1486C>T (p.Leu496=) n.2138C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.58108510T>A | CA353342240 | FLNB | n.2137T>A c.1994T>A (p.Leu665Gln) c.*526T>A (n.*526T>A) c.1487T>A (p.Leu496Gln) n.2139T>A | |
3 | g.58108510T>C | CA353342241 | FLNB | n.2137T>C c.1994T>C (p.Leu665Pro) c.*526T>C (n.*526T>C) c.1487T>C (p.Leu496Pro) n.2139T>C | |
3 | g.58108510T>G | CA353342242 | FLNB | n.2137T>G c.1994T>G (p.Leu665Arg) c.*526T>G (n.*526T>G) c.1487T>G (p.Leu496Arg) n.2139T>G | |
3 | g.58108511G>A | CA434030483 | FLNB | n.2138G>A c.1995G>A (p.Leu665=) c.*527G>A (n.*527G>A) c.1488G>A (p.Leu496=) n.2140G>A | gnomAD v4 |
3 | g.58108511G>C | CA434030485 | FLNB | n.2138G>C c.1995G>C (p.Leu665=) c.*527G>C (n.*527G>C) c.1488G>C (p.Leu496=) n.2140G>C | gnomAD v4 |
3 | g.58108511G>T | CA434030488 | FLNB | n.2138G>T c.1995G>T (p.Leu665=) c.*527G>T (n.*527G>T) c.1488G>T (p.Leu496=) n.2140G>T | |
3 | g.58108512G>A | CA353342245 | FLNB | n.2139G>A c.1996G>A (p.Ala666Thr) c.*528G>A (n.*528G>A) c.1489G>A (p.Ala497Thr) n.2141G>A | |
3 | g.58108512G>C | CA353342246 | FLNB | n.2139G>C c.1996G>C (p.Ala666Pro) c.*528G>C (n.*528G>C) c.1489G>C (p.Ala497Pro) n.2141G>C | |
3 | g.58108512G>T | CA353342249 | FLNB | n.2139G>T c.1996G>T (p.Ala666Ser) c.*528G>T (n.*528G>T) c.1489G>T (p.Ala497Ser) n.2141G>T | |
3 | g.58108513C>A | CA353342250 | FLNB | n.2140C>A c.1997C>A (p.Ala666Asp) c.*529C>A (n.*529C>A) c.1490C>A (p.Ala497Asp) n.2142C>A | |
3 | g.58108513C>G | CA353342254 | FLNB | n.2140C>G c.1997C>G (p.Ala666Gly) c.*529C>G (n.*529C>G) c.1490C>G (p.Ala497Gly) n.2142C>G | |
3 | g.58108513C>T | CA353342252 | FLNB | n.2140C>T c.1997C>T (p.Ala666Val) c.*529C>T (n.*529C>T) c.1490C>T (p.Ala497Val) n.2142C>T | |
3 | g.58108514C>A | CA434030502 | FLNB | n.2141C>A c.1998C>A (p.Ala666=) c.*530C>A (n.*530C>A) c.1491C>A (p.Ala497=) n.2143C>A | |
3 | g.58108514C= | CA1367500149 | FLNB | n.2141C= c.1998C= (p.Ala666=) c.*530C= (n.*530C=) c.1491C= (p.Ala497=) n.2143C= | |
3 | g.58108514C>G | CA434030505 | FLNB | n.2141C>G c.1998C>G (p.Ala666=) c.*530C>G (n.*530C>G) c.1491C>G (p.Ala497=) n.2143C>G | |
3 | g.58108514C>T | CA2467993 | FLNB | n.2141C>T c.1998C>T (p.Ala666=) c.*530C>T (n.*530C>T) c.1491C>T (p.Ala497=) n.2143C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.58108515G>A | CA2467994 | FLNB | n.2142G>A c.1999G>A (p.Glu667Lys) c.*531G>A (n.*531G>A) c.1492G>A (p.Glu498Lys) n.2144G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.58108515G>C | CA353342263 | FLNB | n.2142G>C c.1999G>C (p.Glu667Gln) c.*531G>C (n.*531G>C) c.1492G>C (p.Glu498Gln) n.2144G>C | |
3 | g.58108515G= | CA1367500150 | FLNB | n.2142G= c.1999G= (p.Glu667=) c.*531G= (n.*531G=) c.1492G= (p.Glu498=) n.2144G= | |
3 | g.58108515G>T | CA353342264 | FLNB | n.2142G>T c.1999G>T (p.Glu667Ter) c.*531G>T (n.*531G>T) c.1492G>T (p.Glu498Ter) n.2144G>T | gnomAD v4 |
3 | g.58108516A= | CA1367500151 | FLNB | n.2143A= c.2000A= (p.Glu667=) c.*532A= (n.*532A=) c.1493A= (p.Glu498=) n.2145A= | |
3 | g.58108516A>C | CA353342267 | FLNB | n.2143A>C c.2000A>C (p.Glu667Ala) c.*532A>C (n.*532A>C) c.1493A>C (p.Glu498Ala) n.2145A>C | gnomAD v4 |
3 | g.58108516A>G | CA353342269 | FLNB | n.2143A>G c.2000A>G (p.Glu667Gly) c.*532A>G (n.*532A>G) c.1493A>G (p.Glu498Gly) n.2145A>G | dbSNP gnomAD v4 |
3 | g.58108516A>T | CA353342270 | FLNB | n.2143A>T c.2000A>T (p.Glu667Val) c.*532A>T (n.*532A>T) c.1493A>T (p.Glu498Val) n.2145A>T | |
3 | g.58108517G>A | CA434030544 | FLNB | n.2144G>A c.2001G>A (p.Glu667=) c.*533G>A (n.*533G>A) c.1494G>A (p.Glu498=) n.2146G>A | |
3 | g.58108517G>C | CA353342273 | FLNB | n.2144G>C c.2001G>C (p.Glu667Asp) c.*533G>C (n.*533G>C) c.1494G>C (p.Glu498Asp) n.2146G>C | |
3 | g.58108517G>T | CA353342275 | FLNB | n.2144G>T c.2001G>T (p.Glu667Asp) c.*533G>T (n.*533G>T) c.1494G>T (p.Glu498Asp) n.2146G>T | |
3 | g.58108518T>A | CA353342277 | FLNB | n.2145T>A c.2002T>A (p.Phe668Ile) c.*534T>A (n.*534T>A) c.1495T>A (p.Phe499Ile) n.2147T>A | |
3 | g.58108518T>C | CA353342279 | FLNB | n.2145T>C c.2002T>C (p.Phe668Leu) c.*534T>C (n.*534T>C) c.1495T>C (p.Phe499Leu) n.2147T>C | |
3 | g.58108518T>G | CA353342281 | FLNB | n.2145T>G c.2002T>G (p.Phe668Val) c.*534T>G (n.*534T>G) c.1495T>G (p.Phe499Val) n.2147T>G | |
3 | g.58108519T>A | CA353342282 | FLNB | n.2146T>A c.2003T>A (p.Phe668Tyr) c.*535T>A (n.*535T>A) c.1496T>A (p.Phe499Tyr) n.2148T>A | |
3 | g.58108519T>C | CA353342284 | FLNB | n.2146T>C c.2003T>C (p.Phe668Ser) c.*535T>C (n.*535T>C) c.1496T>C (p.Phe499Ser) n.2148T>C | |
3 | g.58108519T>G | CA353342285 | FLNB | n.2146T>G c.2003T>G (p.Phe668Cys) c.*535T>G (n.*535T>G) c.1496T>G (p.Phe499Cys) n.2148T>G | |
3 | g.58108520C>A | CA353342288 | FLNB | n.2147C>A c.2004C>A (p.Phe668Leu) c.*536C>A (n.*536C>A) c.1497C>A (p.Phe499Leu) n.2149C>A | |
3 | g.58108520C>G | CA353342289 | FLNB | n.2147C>G c.2004C>G (p.Phe668Leu) c.*536C>G (n.*536C>G) c.1497C>G (p.Phe499Leu) n.2149C>G | |
3 | g.58108520C>T | CA434030571 | FLNB | n.2147C>T c.2004C>T (p.Phe668=) c.*536C>T (n.*536C>T) c.1497C>T (p.Phe499=) n.2149C>T | |
3 | g.58108521A= | CA1367500152 | FLNB | n.2148A= c.2005A= (p.Thr669=) c.*537A= (n.*537A=) c.1498A= (p.Thr500=) n.2150A= | |
3 | g.58108521A>C | CA353342292 | FLNB | n.2148A>C c.2005A>C (p.Thr669Pro) c.*537A>C (n.*537A>C) c.1498A>C (p.Thr500Pro) n.2150A>C | |
3 | g.58108521A>G | CA2467995 | FLNB | n.2148A>G c.2005A>G (p.Thr669Ala) c.*537A>G (n.*537A>G) c.1498A>G (p.Thr500Ala) n.2150A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.58108521A>T | CA353342294 | FLNB | n.2148A>T c.2005A>T (p.Thr669Ser) c.*537A>T (n.*537A>T) c.1498A>T (p.Thr500Ser) n.2150A>T | dbSNP gnomAD v3 gnomAD v4 |
3 | g.58108522C>A | CA353342297 | FLNB | n.2149C>A c.2006C>A (p.Thr669Asn) c.*538C>A (n.*538C>A) c.1499C>A (p.Thr500Asn) n.2151C>A | |
3 | g.58108522C= | CA1367500153 | FLNB | n.2149C= c.2006C= (p.Thr669=) c.*538C= (n.*538C=) c.1499C= (p.Thr500=) n.2151C= | |
3 | g.58108522C>G | CA75433799 | FLNB | n.2149C>G c.2006C>G (p.Thr669Ser) c.*538C>G (n.*538C>G) c.1499C>G (p.Thr500Ser) n.2151C>G | dbSNP gnomAD v2 gnomAD v4 |
3 | g.58108522C>T | CA353342300 | FLNB | n.2149C>T c.2006C>T (p.Thr669Ile) c.*538C>T (n.*538C>T) c.1499C>T (p.Thr500Ile) n.2151C>T | |
3 | g.58108522_58108523delinsCT | CA1367500154 | FLNB | n.2149_2150delinsCT c.2006_2007delinsCT (p.Thr669=) c.*538_*539delinsCT (n.*538_*539delinsCT) c.1499_1500delinsCT (p.Thr500=) n.2151_2152delinsCT | |
3 | g.58108523del | CA1048376895 | FLNB | n.2150del c.2007del (p.Val670TrpfsTer11) c.*539del (n.*539del) c.1500del (p.Val501TrpfsTer11) n.2152del | dbSNP gnomAD v4 |
3 | g.58108523T>A | CA434030605 | FLNB | n.2150T>A c.2007T>A (p.Thr669=) c.*539T>A (n.*539T>A) c.1500T>A (p.Thr500=) n.2152T>A | |
3 | g.58108523T>C | CA434030602 | FLNB | n.2150T>C c.2007T>C (p.Thr669=) c.*539T>C (n.*539T>C) c.1500T>C (p.Thr500=) n.2152T>C | dbSNP |
3 | g.58108523T>G | CA434030600 | FLNB | n.2150T>G c.2007T>G (p.Thr669=) c.*539T>G (n.*539T>G) c.1500T>G (p.Thr500=) n.2152T>G | |
3 | g.58108524G>A | CA353342302 | FLNB | n.2151G>A c.2008G>A (p.Val670Met) c.*540G>A (n.*540G>A) c.1501G>A (p.Val501Met) n.2153G>A | |
3 | g.58108524G>C | CA353342305 | FLNB | n.2151G>C c.2008G>C (p.Val670Leu) c.*540G>C (n.*540G>C) c.1501G>C (p.Val501Leu) n.2153G>C | |
3 | g.58108524G>T | CA353342306 | FLNB | n.2151G>T c.2008G>T (p.Val670Leu) c.*540G>T (n.*540G>T) c.1501G>T (p.Val501Leu) n.2153G>T | |
3 | g.58108525T>A | CA353342309 | FLNB | n.2152T>A c.2009T>A (p.Val670Glu) c.*541T>A (n.*541T>A) c.1502T>A (p.Val501Glu) n.2154T>A | |
3 | g.58108525T>C | CA353342311 | FLNB | n.2152T>C c.2009T>C (p.Val670Ala) c.*541T>C (n.*541T>C) c.1502T>C (p.Val501Ala) n.2154T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.58108525T>G | CA353342312 | FLNB | n.2152T>G c.2009T>G (p.Val670Gly) c.*541T>G (n.*541T>G) c.1502T>G (p.Val501Gly) n.2154T>G | |
3 | g.58108525T= | CA1367500155 | FLNB | n.2152T= c.2009T= (p.Val670=) c.*541T= (n.*541T=) c.1502T= (p.Val501=) n.2154T= | |
3 | g.58108526G>A | CA2467996 | FLNB | n.2153G>A c.2010G>A (p.Val670=) c.*542G>A (n.*542G>A) c.1503G>A (p.Val501=) n.2155G>A | dbSNP ExAC gnomAD v2 |
3 | g.58108526G>C | CA434030628 | FLNB | n.2153G>C c.2010G>C (p.Val670=) c.*542G>C (n.*542G>C) c.1503G>C (p.Val501=) n.2155G>C | |
3 | g.58108526G= | CA1367500156 | FLNB | n.2153G= c.2010G= (p.Val670=) c.*542G= (n.*542G=) c.1503G= (p.Val501=) n.2155G= | |
3 | g.58108526G>T | CA434030632 | FLNB | n.2153G>T c.2010G>T (p.Val670=) c.*542G>T (n.*542G>T) c.1503G>T (p.Val501=) n.2155G>T | |
3 | g.58108527G>A | CA353342319 | FLNB | n.2154G>A c.2011G>A (p.Asp671Asn) c.*543G>A (n.*543G>A) c.1504G>A (p.Asp502Asn) n.2156G>A | |
3 | g.58108527G>C | CA353342317 | FLNB | n.2154G>C c.2011G>C (p.Asp671His) c.*543G>C (n.*543G>C) c.1504G>C (p.Asp502His) n.2156G>C | COSMIC COSMIC COSMIC |
3 | g.58108527G>T | CA353342316 | FLNB | n.2154G>T c.2011G>T (p.Asp671Tyr) c.*543G>T (n.*543G>T) c.1504G>T (p.Asp502Tyr) n.2156G>T | ClinVar gnomAD v4 |
3 | g.58108528A>C | CA353342321 | FLNB | n.2155A>C c.2012A>C (p.Asp671Ala) c.*544A>C (n.*544A>C) c.1505A>C (p.Asp502Ala) n.2157A>C | |
3 | g.58108528A>G | CA353342323 | FLNB | n.2155A>G c.2012A>G (p.Asp671Gly) c.*544A>G (n.*544A>G) c.1505A>G (p.Asp502Gly) n.2157A>G | |
3 | g.58108528A>T | CA353342325 | FLNB | n.2155A>T c.2012A>T (p.Asp671Val) c.*544A>T (n.*544A>T) c.1505A>T (p.Asp502Val) n.2157A>T | |
3 | g.58108529T>A | CA353342327 | FLNB | n.2156T>A c.2013T>A (p.Asp671Glu) c.*545T>A (n.*545T>A) c.1506T>A (p.Asp502Glu) n.2158T>A | |
3 | g.58108529T>C | CA434030651 | FLNB | n.2156T>C c.2013T>C (p.Asp671=) c.*545T>C (n.*545T>C) c.1506T>C (p.Asp502=) n.2158T>C | gnomAD v4 |
3 | g.58108529T>G | CA353342329 | FLNB | n.2156T>G c.2013T>G (p.Asp671Glu) c.*545T>G (n.*545T>G) c.1506T>G (p.Asp502Glu) n.2158T>G | |
3 | g.58108530C>A | CA353342334 | FLNB | n.2157C>A c.2014C>A (p.Pro672Thr) c.*546C>A (n.*546C>A) c.1507C>A (p.Pro503Thr) n.2159C>A | |
3 | g.58108530C>G | CA353342332 | FLNB | n.2157C>G c.2014C>G (p.Pro672Ala) c.*546C>G (n.*546C>G) c.1507C>G (p.Pro503Ala) n.2159C>G | |
3 | g.58108530C>T | CA353342330 | FLNB | n.2157C>T c.2014C>T (p.Pro672Ser) c.*546C>T (n.*546C>T) c.1507C>T (p.Pro503Ser) n.2159C>T | |
3 | g.58108531C>A | CA353342336 | FLNB | n.2158C>A c.2015C>A (p.Pro672His) c.*547C>A (n.*547C>A) c.1508C>A (p.Pro503His) n.2160C>A | |
3 | g.58108531C>G | CA353342338 | FLNB | n.2158C>G c.2015C>G (p.Pro672Arg) c.*547C>G (n.*547C>G) c.1508C>G (p.Pro503Arg) n.2160C>G | |
3 | g.58108531C>T | CA353342340 | FLNB | n.2158C>T c.2015C>T (p.Pro672Leu) c.*547C>T (n.*547C>T) c.1508C>T (p.Pro503Leu) n.2160C>T | COSMIC COSMIC |
3 | g.58108532T>A | CA434030664 | FLNB | n.2159T>A c.2016T>A (p.Pro672=) c.*548T>A (n.*548T>A) c.1509T>A (p.Pro503=) n.2161T>A | |
3 | g.58108532T>C | CA434030668 | FLNB | n.2159T>C c.2016T>C (p.Pro672=) c.*548T>C (n.*548T>C) c.1509T>C (p.Pro503=) n.2161T>C | |
3 | g.58108532T>G | CA434030666 | FLNB | n.2159T>G c.2016T>G (p.Pro672=) c.*548T>G (n.*548T>G) c.1509T>G (p.Pro503=) n.2161T>G | |
3 | g.58108533A= | CA1367500157 | FLNB | n.2160A= c.2017A= (p.Lys673=) c.*549A= (n.*549A=) c.1510A= (p.Lys504=) n.2162A= | |
3 | g.58108533A>C | CA353342342 | FLNB | n.2160A>C c.2017A>C (p.Lys673Gln) c.*549A>C (n.*549A>C) c.1510A>C (p.Lys504Gln) n.2162A>C | |
3 | g.58108533A>G | CA353342344 | FLNB | n.2160A>G c.2017A>G (p.Lys673Glu) c.*549A>G (n.*549A>G) c.1510A>G (p.Lys504Glu) n.2162A>G | ClinVar dbSNP gnomAD v4 |
3 | g.58108533A>T | CA353342346 | FLNB | n.2160A>T c.2017A>T (p.Lys673Ter) c.*549A>T (n.*549A>T) c.1510A>T (p.Lys504Ter) n.2162A>T | |
3 | g.58108534A>C | CA353342350 | FLNB | n.2161A>C c.2018A>C (p.Lys673Thr) c.*550A>C (n.*550A>C) c.1511A>C (p.Lys504Thr) n.2163A>C | |
3 | g.58108534A>G | CA353342352 | FLNB | n.2161A>G c.2018A>G (p.Lys673Arg) c.*550A>G (n.*550A>G) c.1511A>G (p.Lys504Arg) n.2163A>G | gnomAD v4 |
3 | g.58108534A>T | CA353342351 | FLNB | n.2161A>T c.2018A>T (p.Lys673Met) c.*550A>T (n.*550A>T) c.1511A>T (p.Lys504Met) n.2163A>T | |
3 | g.58108535G>A | CA434030676 | FLNB | n.2162G>A c.2019G>A (p.Lys673=) c.*551G>A (n.*551G>A) c.1512G>A (p.Lys504=) n.2164G>A | gnomAD v4 COSMIC COSMIC |
3 | g.58108535G>C | CA353342355 | FLNB | n.2162G>C c.2019G>C (p.Lys673Asn) c.*551G>C (n.*551G>C) c.1512G>C (p.Lys504Asn) n.2164G>C | |
3 | g.58108535G>T | CA353342356 | FLNB | n.2162G>T c.2019G>T (p.Lys673Asn) c.*551G>T (n.*551G>T) c.1512G>T (p.Lys504Asn) n.2164G>T | |
3 | g.58108536G>A | CA353342358 | FLNB | n.2163G>A c.2020G>A (p.Asp674Asn) c.*552G>A (n.*552G>A) c.1513G>A (p.Asp505Asn) n.2165G>A | |
3 | g.58108536G>C | CA353342360 | FLNB | n.2163G>C c.2020G>C (p.Asp674His) c.*552G>C (n.*552G>C) c.1513G>C (p.Asp505His) n.2165G>C | |
3 | g.58108536G>T | CA353342362 | FLNB | n.2163G>T c.2020G>T (p.Asp674Tyr) c.*552G>T (n.*552G>T) c.1513G>T (p.Asp505Tyr) n.2165G>T | |
3 | g.58108537A>C | CA353342363 | FLNB | n.2164A>C c.2021A>C (p.Asp674Ala) c.*553A>C (n.*553A>C) c.1514A>C (p.Asp505Ala) n.2166A>C | |
3 | g.58108537A>G | CA353342365 | FLNB | n.2164A>G c.2021A>G (p.Asp674Gly) c.*553A>G (n.*553A>G) c.1514A>G (p.Asp505Gly) n.2166A>G | gnomAD v4 |
3 | g.58108537A>T | CA353342367 | FLNB | n.2164A>T c.2021A>T (p.Asp674Val) c.*553A>T (n.*553A>T) c.1514A>T (p.Asp505Val) n.2166A>T | |
3 | g.58108538T>A | CA353342369 | FLNB | n.2165T>A c.2022T>A (p.Asp674Glu) c.*554T>A (n.*554T>A) c.1515T>A (p.Asp505Glu) n.2167T>A | |
3 | g.58108538T>C | CA434030694 | FLNB | n.2165T>C c.2022T>C (p.Asp674=) c.*554T>C (n.*554T>C) c.1515T>C (p.Asp505=) n.2167T>C | |
3 | g.58108538T>G | CA353342371 | FLNB | n.2165T>G c.2022T>G (p.Asp674Glu) c.*554T>G (n.*554T>G) c.1515T>G (p.Asp505Glu) n.2167T>G | |
3 | g.58108539G>A | CA353342376 | FLNB | n.2166G>A c.2023G>A (p.Ala675Thr) c.*555G>A (n.*555G>A) c.1516G>A (p.Ala506Thr) n.2168G>A | gnomAD v4 |
3 | g.58108539G>C | CA353342375 | FLNB | n.2166G>C c.2023G>C (p.Ala675Pro) c.*555G>C (n.*555G>C) c.1516G>C (p.Ala506Pro) n.2168G>C | gnomAD v4 |
3 | g.58108539G>T | CA353342374 | FLNB | n.2166G>T c.2023G>T (p.Ala675Ser) c.*555G>T (n.*555G>T) c.1516G>T (p.Ala506Ser) n.2168G>T | |
3 | g.58108540C>A | CA353342377 | FLNB | n.2167C>A c.2024C>A (p.Ala675Asp) c.*556C>A (n.*556C>A) c.1517C>A (p.Ala506Asp) n.2169C>A | |
3 | g.58108540C>G | CA353342379 | FLNB | n.2167C>G c.2024C>G (p.Ala675Gly) c.*556C>G (n.*556C>G) c.1517C>G (p.Ala506Gly) n.2169C>G | |
3 | g.58108540C>T | CA353342378 | FLNB | n.2167C>T c.2024C>T (p.Ala675Val) c.*556C>T (n.*556C>T) c.1517C>T (p.Ala506Val) n.2169C>T | |
3 | g.58108541T>A | CA434030708 | FLNB | n.2168T>A c.2025T>A (p.Ala675=) c.*557T>A (n.*557T>A) c.1518T>A (p.Ala506=) n.2170T>A | |
3 | g.58108541T>C | CA434030711 | FLNB | n.2168T>C c.2025T>C (p.Ala675=) c.*557T>C (n.*557T>C) c.1518T>C (p.Ala506=) n.2170T>C | |
3 | g.58108541T>G | CA434030714 | FLNB | n.2168T>G c.2025T>G (p.Ala675=) c.*557T>G (n.*557T>G) c.1518T>G (p.Ala506=) n.2170T>G | |
3 | g.58108542G>A | CA353342380 | FLNB | n.2169G>A c.2026G>A (p.Gly676Arg) c.*558G>A (n.*558G>A) c.1519G>A (p.Gly507Arg) n.2171G>A | |
3 | g.58108542G>C | CA353342381 | FLNB | n.2169G>C c.2026G>C (p.Gly676Arg) c.*558G>C (n.*558G>C) c.1519G>C (p.Gly507Arg) n.2171G>C | |
3 | g.58108542G>T | CA353342382 | FLNB | n.2169G>T c.2026G>T (p.Gly676Ter) c.*558G>T (n.*558G>T) c.1519G>T (p.Gly507Ter) n.2171G>T | |
3 | g.58108543G>A | CA353342383 | FLNB | n.2170G>A c.2027G>A (p.Gly676Glu) c.*559G>A (n.*559G>A) c.1520G>A (p.Gly507Glu) n.2172G>A | |
3 | g.58108543G>C | CA353342384 | FLNB | n.2170G>C c.2027G>C (p.Gly676Ala) c.*559G>C (n.*559G>C) c.1520G>C (p.Gly507Ala) n.2172G>C | |
3 | g.58108543G>T | CA353342385 | FLNB | n.2170G>T c.2027G>T (p.Gly676Val) c.*559G>T (n.*559G>T) c.1520G>T (p.Gly507Val) n.2172G>T | COSMIC COSMIC |
3 | g.58108544A>C | CA434030722 | FLNB | n.2171A>C c.2028A>C (p.Gly676=) c.*560A>C (n.*560A>C) c.1521A>C (p.Gly507=) n.2173A>C | |
3 | g.58108544A>G | CA434030726 | FLNB | n.2171A>G c.2028A>G (p.Gly676=) c.*560A>G (n.*560A>G) c.1521A>G (p.Gly507=) n.2173A>G | dbSNP |
3 | g.58108544A>T | CA434030728 | FLNB | n.2171A>T c.2028A>T (p.Gly676=) c.*560A>T (n.*560A>T) c.1521A>T (p.Gly507=) n.2173A>T | |
3 | g.58108547del | CA2666263213 | FLNB | n.2174del c.2031del (p.Ala678LeufsTer3) c.*563del (n.*563del) c.1524del (p.Ala509LeufsTer3) n.2176del | gnomAD v4 |
3 | g.58108545A>C | CA353342386 | FLNB | n.2172A>C c.2029A>C (p.Lys677Gln) c.*561A>C (n.*561A>C) c.1522A>C (p.Lys508Gln) n.2174A>C | |
3 | g.58108545A>G | CA353342387 | FLNB | n.2172A>G c.2029A>G (p.Lys677Glu) c.*561A>G (n.*561A>G) c.1522A>G (p.Lys508Glu) n.2174A>G | |
3 | g.58108545A>T | CA353342388 | FLNB | n.2172A>T c.2029A>T (p.Lys677Ter) c.*561A>T (n.*561A>T) c.1522A>T (p.Lys508Ter) n.2174A>T | |
3 | g.58108546A>C | CA353342390 | FLNB | n.2173A>C c.2030A>C (p.Lys677Thr) c.*562A>C (n.*562A>C) c.1523A>C (p.Lys508Thr) n.2175A>C | |
3 | g.58108546A>G | CA353342391 | FLNB | n.2173A>G c.2030A>G (p.Lys677Arg) c.*562A>G (n.*562A>G) c.1523A>G (p.Lys508Arg) n.2175A>G | |
3 | g.58108546A>T | CA353342392 | FLNB | n.2173A>T c.2030A>T (p.Lys677Ile) c.*562A>T (n.*562A>T) c.1523A>T (p.Lys508Ile) n.2175A>T | |
3 | g.58108547A>C | CA353342394 | FLNB | n.2174A>C c.2031A>C (p.Lys677Asn) c.*563A>C (n.*563A>C) c.1524A>C (p.Lys508Asn) n.2176A>C | |
3 | g.58108547A>G | CA434030741 | FLNB | n.2174A>G c.2031A>G (p.Lys677=) c.*563A>G (n.*563A>G) c.1524A>G (p.Lys508=) n.2176A>G | |
3 | g.58108547A>T | CA353342393 | FLNB | n.2174A>T c.2031A>T (p.Lys677Asn) c.*563A>T (n.*563A>T) c.1524A>T (p.Lys508Asn) n.2176A>T | |
3 | g.58108548G>A | CA353342395 | FLNB | n.2175G>A c.2032G>A (p.Ala678Thr) c.*564G>A (n.*564G>A) c.1525G>A (p.Ala509Thr) n.2177G>A | |
3 | g.58108548G>C | CA353342396 | FLNB | n.2175G>C c.2032G>C (p.Ala678Pro) c.*564G>C (n.*564G>C) c.1525G>C (p.Ala509Pro) n.2177G>C | gnomAD v4 |
3 | g.58108548G>T | CA353342397 | FLNB | n.2175G>T c.2032G>T (p.Ala678Ser) c.*564G>T (n.*564G>T) c.1525G>T (p.Ala509Ser) n.2177G>T | gnomAD v4 |
3 | g.58108549C>A | CA353342398 | FLNB | n.2176C>A c.2033C>A (p.Ala678Asp) c.*565C>A (n.*565C>A) c.1526C>A (p.Ala509Asp) n.2178C>A | |
3 | g.58108549C>G | CA353342399 | FLNB | n.2176C>G c.2033C>G (p.Ala678Gly) c.*565C>G (n.*565C>G) c.1526C>G (p.Ala509Gly) n.2178C>G | |
3 | g.58108549C>T | CA353342400 | FLNB | n.2176C>T c.2033C>T (p.Ala678Val) c.*565C>T (n.*565C>T) c.1526C>T (p.Ala509Val) n.2178C>T | |
3 | g.58108550T>A | CA434030755 | FLNB | n.2177T>A c.2034T>A (p.Ala678=) c.*566T>A (n.*566T>A) c.1527T>A (p.Ala509=) n.2179T>A | |
3 | g.58108550T>C | CA434030757 | FLNB | n.2177T>C c.2034T>C (p.Ala678=) c.*566T>C (n.*566T>C) c.1527T>C (p.Ala509=) n.2179T>C | |
3 | g.58108550T>G | CA434030760 | FLNB | n.2177T>G c.2034T>G (p.Ala678=) c.*566T>G (n.*566T>G) c.1527T>G (p.Ala509=) n.2179T>G | |
3 | g.58108551C>A | CA353342401 | FLNB | n.2178C>A c.2035C>A (p.Pro679Thr) c.*567C>A (n.*567C>A) c.1528C>A (p.Pro510Thr) n.2180C>A | |
3 | g.58108551C= | CA1367500158 | FLNB | n.2178C= c.2035C= (p.Pro679=) c.*567C= (n.*567C=) c.1528C= (p.Pro510=) n.2180C= | |
3 | g.58108551C>G | CA353342402 | FLNB | n.2178C>G c.2035C>G (p.Pro679Ala) c.*567C>G (n.*567C>G) c.1528C>G (p.Pro510Ala) n.2180C>G | |
3 | g.58108551C>T | CA2467997 | FLNB | n.2178C>T c.2035C>T (p.Pro679Ser) c.*567C>T (n.*567C>T) c.1528C>T (p.Pro510Ser) n.2180C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.58108552C>A | CA353342403 | FLNB | n.2179C>A c.2036C>A (p.Pro679His) c.*568C>A (n.*568C>A) c.1529C>A (p.Pro510His) n.2181C>A | |
3 | g.58108552C>G | CA353342404 | FLNB | n.2179C>G c.2036C>G (p.Pro679Arg) c.*568C>G (n.*568C>G) c.1529C>G (p.Pro510Arg) n.2181C>G | |
3 | g.58108552C>T | CA353342406 | FLNB | n.2179C>T c.2036C>T (p.Pro679Leu) c.*568C>T (n.*568C>T) c.1529C>T (p.Pro510Leu) n.2181C>T | |
3 | g.58108553C>A | CA434030780 | FLNB | n.2180C>A c.2037C>A (p.Pro679=) c.*569C>A (n.*569C>A) c.1530C>A (p.Pro510=) n.2182C>A | |
3 | g.58108553C>G | CA434030783 | FLNB | n.2180C>G c.2037C>G (p.Pro679=) c.*569C>G (n.*569C>G) c.1530C>G (p.Pro510=) n.2182C>G | |
3 | g.58108553C>T | CA434030785 | FLNB | n.2180C>T c.2037C>T (p.Pro679=) c.*569C>T (n.*569C>T) c.1530C>T (p.Pro510=) n.2182C>T | |
3 | g.58108554T>A | CA353342409 | FLNB | n.2181T>A c.2038T>A (p.Leu680Ile) c.*570T>A (n.*570T>A) c.1531T>A (p.Leu511Ile) n.2183T>A | |
3 | g.58108554T>C | CA434030791 | FLNB | n.2181T>C c.2038T>C (p.Leu680=) c.*570T>C (n.*570T>C) c.1531T>C (p.Leu511=) n.2183T>C | |
3 | g.58108554T>G | CA353342410 | FLNB | n.2181T>G c.2038T>G (p.Leu680Val) c.*570T>G (n.*570T>G) c.1531T>G (p.Leu511Val) n.2183T>G | |
3 | g.58108555T>A | CA353342413 | FLNB | n.2182T>A c.2039T>A (p.Leu680Ter) c.*571T>A (n.*571T>A) c.1532T>A (p.Leu511Ter) n.2184T>A | |
3 | g.58108555T>C | CA353342415 | FLNB | n.2182T>C c.2039T>C (p.Leu680Ser) c.*571T>C (n.*571T>C) c.1532T>C (p.Leu511Ser) n.2184T>C | |
3 | g.58108555T>G | CA353342416 | FLNB | n.2182T>G c.2039T>G (p.Leu680Ter) c.*571T>G (n.*571T>G) c.1532T>G (p.Leu511Ter) n.2184T>G | |
3 | g.58108556A>C | CA353342418 | FLNB | n.2183A>C c.2040A>C (p.Leu680Phe) c.*572A>C (n.*572A>C) c.1533A>C (p.Leu511Phe) n.2185A>C | |
3 | g.58108556A>G | CA434030803 | FLNB | n.2183A>G c.2040A>G (p.Leu680=) c.*572A>G (n.*572A>G) c.1533A>G (p.Leu511=) n.2185A>G | |
3 | g.58108556A>T | CA353342420 | FLNB | n.2183A>T c.2040A>T (p.Leu680Phe) c.*572A>T (n.*572A>T) c.1533A>T (p.Leu511Phe) n.2185A>T | |
3 | g.58108557A>C | CA353342421 | FLNB | n.2184A>C c.2041A>C (p.Lys681Gln) c.*573A>C (n.*573A>C) c.1534A>C (p.Lys512Gln) n.2186A>C | |
3 | g.58108557A>G | CA353342423 | FLNB | n.2184A>G c.2041A>G (p.Lys681Glu) c.*573A>G (n.*573A>G) c.1534A>G (p.Lys512Glu) n.2186A>G | ClinVar |
3 | g.58108557A>T | CA353342425 | FLNB | n.2184A>T c.2041A>T (p.Lys681Ter) c.*573A>T (n.*573A>T) c.1534A>T (p.Lys512Ter) n.2186A>T | |
3 | g.58108558A>C | CA353342427 | FLNB | n.2185A>C c.2042A>C (p.Lys681Thr) c.*574A>C (n.*574A>C) c.1535A>C (p.Lys512Thr) n.2187A>C | |
3 | g.58108558A>G | CA353342432 | FLNB | n.2185A>G c.2042A>G (p.Lys681Arg) c.*574A>G (n.*574A>G) c.1535A>G (p.Lys512Arg) n.2187A>G | |
3 | g.58108558A>T | CA353342433 | FLNB | n.2185A>T c.2042A>T (p.Lys681Met) c.*574A>T (n.*574A>T) c.1535A>T (p.Lys512Met) n.2187A>T | |
3 | g.58108559G>A | CA434030823 | FLNB | n.2186G>A c.2043G>A (p.Lys681=) c.*575G>A (n.*575G>A) c.1536G>A (p.Lys512=) n.2188G>A | |
3 | g.58108559G>C | CA353342435 | FLNB | n.2186G>C c.2043G>C (p.Lys681Asn) c.*575G>C (n.*575G>C) c.1536G>C (p.Lys512Asn) n.2188G>C | dbSNP gnomAD v2 gnomAD v4 |
3 | g.58108559G= | CA1367500159 | FLNB | n.2186G= c.2043G= (p.Lys681=) c.*575G= (n.*575G=) c.1536G= (p.Lys512=) n.2188G= | |
3 | g.58108559G>T | CA353342436 | FLNB | n.2186G>T c.2043G>T (p.Lys681Asn) c.*575G>T (n.*575G>T) c.1536G>T (p.Lys512Asn) n.2188G>T | COSMIC COSMIC |
3 | g.58108560A= | CA1367500160 | FLNB | n.2187A= c.2044A= (p.Ile682=) c.*576A= (n.*576A=) c.1537A= (p.Ile513=) n.2189A= | |
3 | g.58108560A>C | CA353342442 | FLNB | n.2187A>C c.2044A>C (p.Ile682Leu) c.*576A>C (n.*576A>C) c.1537A>C (p.Ile513Leu) n.2189A>C | |
3 | g.58108560A>G | CA353342439 | FLNB | n.2187A>G c.2044A>G (p.Ile682Val) c.*576A>G (n.*576A>G) c.1537A>G (p.Ile513Val) n.2189A>G | dbSNP |
3 | g.58108560A>T | CA353342441 | FLNB | n.2187A>T c.2044A>T (p.Ile682Leu) c.*576A>T (n.*576A>T) c.1537A>T (p.Ile513Leu) n.2189A>T | |
3 | g.58108561T>A | CA353342445 | FLNB | n.2188T>A c.2045T>A (p.Ile682Lys) c.*577T>A (n.*577T>A) c.1538T>A (p.Ile513Lys) n.2190T>A | |
3 | g.58108561T>C | CA353342447 | FLNB | n.2188T>C c.2045T>C (p.Ile682Thr) c.*577T>C (n.*577T>C) c.1538T>C (p.Ile513Thr) n.2190T>C | dbSNP |
3 | g.58108561T>G | CA353342448 | FLNB | n.2188T>G c.2045T>G (p.Ile682Arg) c.*577T>G (n.*577T>G) c.1538T>G (p.Ile513Arg) n.2190T>G | |
3 | g.58108561T= | CA1367500161 | FLNB | n.2188T= c.2045T= (p.Ile682=) c.*577T= (n.*577T=) c.1538T= (p.Ile513=) n.2190T= | |
3 | g.58108562A>C | CA434030834 | FLNB | n.2189A>C c.2046A>C (p.Ile682=) c.*578A>C (n.*578A>C) c.1539A>C (p.Ile513=) n.2191A>C | |
3 | g.58108562A>G | CA353342451 | FLNB | n.2189A>G c.2046A>G (p.Ile682Met) c.*578A>G (n.*578A>G) c.1539A>G (p.Ile513Met) n.2191A>G | |
3 | g.58108562A>T | CA434030840 | FLNB | n.2189A>T c.2046A>T (p.Ile682=) c.*578A>T (n.*578A>T) c.1539A>T (p.Ile513=) n.2191A>T |