Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.154350918T>A | CA415184703 | FLNA | c.7123A>T (p.Ile2375Phe) c.7147A>T (p.Ile2383Phe) c.7066A>T (p.Ile2356Phe) c.3928A>T (p.Ile1310Phe) c.7204A>T (n.7204A>T) c.280-2228A>T c.7426A>T (n.7426A>T) n.2865A>T c.7027A>T (p.Ile2343Phe) c.7103A>T (n.7103A>T) n.3675A>T n.67+1899A>T n.188A>T c.6151A>T (p.Ile2051Phe) c.7051A>T (p.Ile2351Phe) c.6973A>T (p.Ile2325Phe) c.6949A>T (p.Ile2317Phe) c.6946A>T (p.Ile2316Phe) | |
X | g.154350918T>C | CA415184706 | FLNA | c.7123A>G (p.Ile2375Val) c.7147A>G (p.Ile2383Val) c.7066A>G (p.Ile2356Val) c.3928A>G (p.Ile1310Val) c.7204A>G (n.7204A>G) c.280-2228A>G c.7426A>G (n.7426A>G) n.2865A>G c.7027A>G (p.Ile2343Val) c.7103A>G (n.7103A>G) n.3675A>G n.67+1899A>G n.188A>G c.6151A>G (p.Ile2051Val) c.7051A>G (p.Ile2351Val) c.6973A>G (p.Ile2325Val) c.6949A>G (p.Ile2317Val) c.6946A>G (p.Ile2316Val) | gnomAD v4 |
X | g.154350918T>G | CA415184708 | FLNA | c.7123A>C (p.Ile2375Leu) c.7147A>C (p.Ile2383Leu) c.7066A>C (p.Ile2356Leu) c.3928A>C (p.Ile1310Leu) c.7204A>C (n.7204A>C) c.280-2228A>C c.7426A>C (n.7426A>C) n.2865A>C c.7027A>C (p.Ile2343Leu) c.7103A>C (n.7103A>C) n.3675A>C n.67+1899A>C n.188A>C c.6151A>C (p.Ile2051Leu) c.7051A>C (p.Ile2351Leu) c.6973A>C (p.Ile2325Leu) c.6949A>C (p.Ile2317Leu) c.6946A>C (p.Ile2316Leu) | |
X | g.154350919T>A | CA415184712 | FLNA | c.7122A>T (p.Glu2374Asp) c.7146A>T (p.Glu2382Asp) c.7065A>T (p.Glu2355Asp) c.3927A>T (p.Glu1309Asp) c.7203A>T (n.7203A>T) c.280-2229A>T c.7425A>T (n.7425A>T) n.2864A>T c.7026A>T (p.Glu2342Asp) c.7102A>T (n.7102A>T) n.3674A>T n.67+1898A>T n.187A>T c.6150A>T (p.Glu2050Asp) c.7050A>T (p.Glu2350Asp) c.6972A>T (p.Glu2324Asp) c.6948A>T (p.Glu2316Asp) c.6945A>T (p.Glu2315Asp) | dbSNP gnomAD v3 gnomAD v4 |
X | g.154350919T>C | CA519276500 | FLNA | c.7122A>G (p.Glu2374=) c.7146A>G (p.Glu2382=) c.7065A>G (p.Glu2355=) c.3927A>G (p.Glu1309=) c.7203A>G (n.7203A>G) c.280-2229A>G c.7425A>G (n.7425A>G) n.2864A>G c.7026A>G (p.Glu2342=) c.7102A>G (n.7102A>G) n.3674A>G n.67+1898A>G n.187A>G c.6150A>G (p.Glu2050=) c.7050A>G (p.Glu2350=) c.6972A>G (p.Glu2324=) c.6948A>G (p.Glu2316=) c.6945A>G (p.Glu2315=) | |
X | g.154350919T>G | CA415184715 | FLNA | c.7122A>C (p.Glu2374Asp) c.7146A>C (p.Glu2382Asp) c.7065A>C (p.Glu2355Asp) c.3927A>C (p.Glu1309Asp) c.7203A>C (n.7203A>C) c.280-2229A>C c.7425A>C (n.7425A>C) n.2864A>C c.7026A>C (p.Glu2342Asp) c.7102A>C (n.7102A>C) n.3674A>C n.67+1898A>C n.187A>C c.6150A>C (p.Glu2050Asp) c.7050A>C (p.Glu2350Asp) c.6972A>C (p.Glu2324Asp) c.6948A>C (p.Glu2316Asp) c.6945A>C (p.Glu2315Asp) | |
X | g.154350919T= | CA2466652358 | FLNA | c.7122A= (p.Glu2374=) c.7146A= (p.Glu2382=) c.7065A= (p.Glu2355=) c.3927A= (p.Glu1309=) c.7203A= (n.7203A=) c.280-2229A= c.7425A= (n.7425A=) n.2864A= c.7026A= (p.Glu2342=) c.7102A= (n.7102A=) n.3674A= n.67+1898A= n.187A= c.6150A= (p.Glu2050=) c.7050A= (p.Glu2350=) c.6972A= (p.Glu2324=) c.6948A= (p.Glu2316=) c.6945A= (p.Glu2315=) | |
X | g.154350920T>A | CA415184718 | FLNA | c.7121A>T (p.Glu2374Val) c.7145A>T (p.Glu2382Val) c.7064A>T (p.Glu2355Val) c.3926A>T (p.Glu1309Val) c.7202A>T (n.7202A>T) c.280-2230A>T c.7424A>T (n.7424A>T) n.2863A>T c.7025A>T (p.Glu2342Val) c.7101A>T (n.7101A>T) n.3673A>T n.67+1897A>T n.186A>T c.6149A>T (p.Glu2050Val) c.7049A>T (p.Glu2350Val) c.6971A>T (p.Glu2324Val) c.6947A>T (p.Glu2316Val) c.6944A>T (p.Glu2315Val) | |
X | g.154350920T>C | CA415184721 | FLNA | c.7121A>G (p.Glu2374Gly) c.7145A>G (p.Glu2382Gly) c.7064A>G (p.Glu2355Gly) c.3926A>G (p.Glu1309Gly) c.7202A>G (n.7202A>G) c.280-2230A>G c.7424A>G (n.7424A>G) n.2863A>G c.7025A>G (p.Glu2342Gly) c.7101A>G (n.7101A>G) n.3673A>G n.67+1897A>G n.186A>G c.6149A>G (p.Glu2050Gly) c.7049A>G (p.Glu2350Gly) c.6971A>G (p.Glu2324Gly) c.6947A>G (p.Glu2316Gly) c.6944A>G (p.Glu2315Gly) | |
X | g.154350920T>G | CA415184724 | FLNA | c.7121A>C (p.Glu2374Ala) c.7145A>C (p.Glu2382Ala) c.7064A>C (p.Glu2355Ala) c.3926A>C (p.Glu1309Ala) c.7202A>C (n.7202A>C) c.280-2230A>C c.7424A>C (n.7424A>C) n.2863A>C c.7025A>C (p.Glu2342Ala) c.7101A>C (n.7101A>C) n.3673A>C n.67+1897A>C n.186A>C c.6149A>C (p.Glu2050Ala) c.7049A>C (p.Glu2350Ala) c.6971A>C (p.Glu2324Ala) c.6947A>C (p.Glu2316Ala) c.6944A>C (p.Glu2315Ala) | |
X | g.154350921C>A | CA415184729 | FLNA | c.7120G>T (p.Glu2374Ter) c.7144G>T (p.Glu2382Ter) c.7063G>T (p.Glu2355Ter) c.3925G>T (p.Glu1309Ter) c.7201G>T (n.7201G>T) c.280-2231G>T c.7423G>T (n.7423G>T) n.2862G>T c.7024G>T (p.Glu2342Ter) c.7100G>T (n.7100G>T) n.3672G>T n.67+1896G>T n.185G>T c.6148G>T (p.Glu2050Ter) c.7048G>T (p.Glu2350Ter) c.6970G>T (p.Glu2324Ter) c.6946G>T (p.Glu2316Ter) c.6943G>T (p.Glu2315Ter) | |
X | g.154350921C>G | CA415184727 | FLNA | c.7120G>C (p.Glu2374Gln) c.7144G>C (p.Glu2382Gln) c.7063G>C (p.Glu2355Gln) c.3925G>C (p.Glu1309Gln) c.7201G>C (n.7201G>C) c.280-2231G>C c.7423G>C (n.7423G>C) n.2862G>C c.7024G>C (p.Glu2342Gln) c.7100G>C (n.7100G>C) n.3672G>C n.67+1896G>C n.185G>C c.6148G>C (p.Glu2050Gln) c.7048G>C (p.Glu2350Gln) c.6970G>C (p.Glu2324Gln) c.6946G>C (p.Glu2316Gln) c.6943G>C (p.Glu2315Gln) | |
X | g.154350921C>T | CA415184728 | FLNA | c.7120G>A (p.Glu2374Lys) c.7144G>A (p.Glu2382Lys) c.7063G>A (p.Glu2355Lys) c.3925G>A (p.Glu1309Lys) c.7201G>A (n.7201G>A) c.280-2231G>A c.7423G>A (n.7423G>A) n.2862G>A c.7024G>A (p.Glu2342Lys) c.7100G>A (n.7100G>A) n.3672G>A n.67+1896G>A n.185G>A c.6148G>A (p.Glu2050Lys) c.7048G>A (p.Glu2350Lys) c.6970G>A (p.Glu2324Lys) c.6946G>A (p.Glu2316Lys) c.6943G>A (p.Glu2315Lys) | |
X | g.154350922T>A | CA519276501 | FLNA | c.7119A>T (p.Thr2373=) c.7143A>T (p.Thr2381=) c.7062A>T (p.Thr2354=) c.3924A>T (p.Thr1308=) c.7200A>T (n.7200A>T) c.280-2232A>T c.7422A>T (n.7422A>T) n.2861A>T c.7023A>T (p.Thr2341=) c.7099A>T (n.7099A>T) n.3671A>T n.67+1895A>T n.184A>T c.6147A>T (p.Thr2049=) c.7047A>T (p.Thr2349=) c.6969A>T (p.Thr2323=) c.6945A>T (p.Thr2315=) c.6942A>T (p.Thr2314=) | |
X | g.154350922T>C | CA519276502 | FLNA | c.7119A>G (p.Thr2373=) c.7143A>G (p.Thr2381=) c.7062A>G (p.Thr2354=) c.3924A>G (p.Thr1308=) c.7200A>G (n.7200A>G) c.280-2232A>G c.7422A>G (n.7422A>G) n.2861A>G c.7023A>G (p.Thr2341=) c.7099A>G (n.7099A>G) n.3671A>G n.67+1895A>G n.184A>G c.6147A>G (p.Thr2049=) c.7047A>G (p.Thr2349=) c.6969A>G (p.Thr2323=) c.6945A>G (p.Thr2315=) c.6942A>G (p.Thr2314=) | |
X | g.154350922T>G | CA519276503 | FLNA | c.7119A>C (p.Thr2373=) c.7143A>C (p.Thr2381=) c.7062A>C (p.Thr2354=) c.3924A>C (p.Thr1308=) c.7200A>C (n.7200A>C) c.280-2232A>C c.7422A>C (n.7422A>C) n.2861A>C c.7023A>C (p.Thr2341=) c.7099A>C (n.7099A>C) n.3671A>C n.67+1895A>C n.184A>C c.6147A>C (p.Thr2049=) c.7047A>C (p.Thr2349=) c.6969A>C (p.Thr2323=) c.6945A>C (p.Thr2315=) c.6942A>C (p.Thr2314=) | |
X | g.154350923G>A | CA415184730 | FLNA | c.7118C>T (p.Thr2373Ile) c.7142C>T (p.Thr2381Ile) c.7061C>T (p.Thr2354Ile) c.3923C>T (p.Thr1308Ile) c.7199C>T (n.7199C>T) c.280-2233C>T c.7421C>T (n.7421C>T) n.2860C>T c.7022C>T (p.Thr2341Ile) c.7098C>T (n.7098C>T) n.3670C>T n.67+1894C>T n.183C>T c.6146C>T (p.Thr2049Ile) c.7046C>T (p.Thr2349Ile) c.6968C>T (p.Thr2323Ile) c.6944C>T (p.Thr2315Ile) c.6941C>T (p.Thr2314Ile) | |
X | g.154350923G>C | CA415184734 | FLNA | c.7118C>G (p.Thr2373Arg) c.7142C>G (p.Thr2381Arg) c.7061C>G (p.Thr2354Arg) c.3923C>G (p.Thr1308Arg) c.7199C>G (n.7199C>G) c.280-2233C>G c.7421C>G (n.7421C>G) n.2860C>G c.7022C>G (p.Thr2341Arg) c.7098C>G (n.7098C>G) n.3670C>G n.67+1894C>G n.183C>G c.6146C>G (p.Thr2049Arg) c.7046C>G (p.Thr2349Arg) c.6968C>G (p.Thr2323Arg) c.6944C>G (p.Thr2315Arg) c.6941C>G (p.Thr2314Arg) | gnomAD v4 |
X | g.154350923G>T | CA415184736 | FLNA | c.7118C>A (p.Thr2373Lys) c.7142C>A (p.Thr2381Lys) c.7061C>A (p.Thr2354Lys) c.3923C>A (p.Thr1308Lys) c.7199C>A (n.7199C>A) c.280-2233C>A c.7421C>A (n.7421C>A) n.2860C>A c.7022C>A (p.Thr2341Lys) c.7098C>A (n.7098C>A) n.3670C>A n.67+1894C>A n.183C>A c.6146C>A (p.Thr2049Lys) c.7046C>A (p.Thr2349Lys) c.6968C>A (p.Thr2323Lys) c.6944C>A (p.Thr2315Lys) c.6941C>A (p.Thr2314Lys) | |
X | g.154350924T>A | CA415184739 | FLNA | c.7117A>T (p.Thr2373Ser) c.7141A>T (p.Thr2381Ser) c.7060A>T (p.Thr2354Ser) c.3922A>T (p.Thr1308Ser) c.7198A>T (n.7198A>T) c.280-2234A>T c.7420A>T (n.7420A>T) n.2859A>T c.7021A>T (p.Thr2341Ser) c.7097A>T (n.7097A>T) n.3669A>T n.67+1893A>T n.182A>T c.6145A>T (p.Thr2049Ser) c.7045A>T (p.Thr2349Ser) c.6967A>T (p.Thr2323Ser) c.6943A>T (p.Thr2315Ser) c.6940A>T (p.Thr2314Ser) | |
X | g.154350924T>C | CA415184742 | FLNA | c.7117A>G (p.Thr2373Ala) c.7141A>G (p.Thr2381Ala) c.7060A>G (p.Thr2354Ala) c.3922A>G (p.Thr1308Ala) c.7198A>G (n.7198A>G) c.280-2234A>G c.7420A>G (n.7420A>G) n.2859A>G c.7021A>G (p.Thr2341Ala) c.7097A>G (n.7097A>G) n.3669A>G n.67+1893A>G n.182A>G c.6145A>G (p.Thr2049Ala) c.7045A>G (p.Thr2349Ala) c.6967A>G (p.Thr2323Ala) c.6943A>G (p.Thr2315Ala) c.6940A>G (p.Thr2314Ala) | |
X | g.154350924T>G | CA415184745 | FLNA | c.7117A>C (p.Thr2373Pro) c.7141A>C (p.Thr2381Pro) c.7060A>C (p.Thr2354Pro) c.3922A>C (p.Thr1308Pro) c.7198A>C (n.7198A>C) c.280-2234A>C c.7420A>C (n.7420A>C) n.2859A>C c.7021A>C (p.Thr2341Pro) c.7097A>C (n.7097A>C) n.3669A>C n.67+1893A>C n.182A>C c.6145A>C (p.Thr2049Pro) c.7045A>C (p.Thr2349Pro) c.6967A>C (p.Thr2323Pro) c.6943A>C (p.Thr2315Pro) c.6940A>C (p.Thr2314Pro) | |
X | g.154350925G>A | CA519276504 | FLNA | c.7116C>T (p.Val2372=) c.7140C>T (p.Val2380=) c.7059C>T (p.Val2353=) c.3921C>T (p.Val1307=) c.7197C>T (n.7197C>T) c.280-2235C>T c.7419C>T (n.7419C>T) n.2858C>T c.7020C>T (p.Val2340=) c.7096C>T (n.7096C>T) n.3668C>T n.67+1892C>T n.181C>T c.6144C>T (p.Val2048=) c.7044C>T (p.Val2348=) c.6966C>T (p.Val2322=) c.6942C>T (p.Val2314=) c.6939C>T (p.Val2313=) | |
X | g.154350925G>C | CA519276506 | FLNA | c.7116C>G (p.Val2372=) c.7140C>G (p.Val2380=) c.7059C>G (p.Val2353=) c.3921C>G (p.Val1307=) c.7197C>G (n.7197C>G) c.280-2235C>G c.7419C>G (n.7419C>G) n.2858C>G c.7020C>G (p.Val2340=) c.7096C>G (n.7096C>G) n.3668C>G n.67+1892C>G n.181C>G c.6144C>G (p.Val2048=) c.7044C>G (p.Val2348=) c.6966C>G (p.Val2322=) c.6942C>G (p.Val2314=) c.6939C>G (p.Val2313=) | |
X | g.154350925G>T | CA519276505 | FLNA | c.7116C>A (p.Val2372=) c.7140C>A (p.Val2380=) c.7059C>A (p.Val2353=) c.3921C>A (p.Val1307=) c.7197C>A (n.7197C>A) c.280-2235C>A c.7419C>A (n.7419C>A) n.2858C>A c.7020C>A (p.Val2340=) c.7096C>A (n.7096C>A) n.3668C>A n.67+1892C>A n.181C>A c.6144C>A (p.Val2048=) c.7044C>A (p.Val2348=) c.6966C>A (p.Val2322=) c.6942C>A (p.Val2314=) c.6939C>A (p.Val2313=) | |
X | g.154350926A>C | CA415184747 | FLNA | c.7115T>G (p.Val2372Gly) c.7139T>G (p.Val2380Gly) c.7058T>G (p.Val2353Gly) c.3920T>G (p.Val1307Gly) c.7196T>G (n.7196T>G) c.280-2236T>G c.7418T>G (n.7418T>G) n.2857T>G c.7019T>G (p.Val2340Gly) c.7095T>G (n.7095T>G) n.3667T>G n.67+1891T>G n.180T>G c.6143T>G (p.Val2048Gly) c.7043T>G (p.Val2348Gly) c.6965T>G (p.Val2322Gly) c.6941T>G (p.Val2314Gly) c.6938T>G (p.Val2313Gly) | |
X | g.154350926A>G | CA415184748 | FLNA | c.7115T>C (p.Val2372Ala) c.7139T>C (p.Val2380Ala) c.7058T>C (p.Val2353Ala) c.3920T>C (p.Val1307Ala) c.7196T>C (n.7196T>C) c.280-2236T>C c.7418T>C (n.7418T>C) n.2857T>C c.7019T>C (p.Val2340Ala) c.7095T>C (n.7095T>C) n.3667T>C n.67+1891T>C n.180T>C c.6143T>C (p.Val2048Ala) c.7043T>C (p.Val2348Ala) c.6965T>C (p.Val2322Ala) c.6941T>C (p.Val2314Ala) c.6938T>C (p.Val2313Ala) | |
X | g.154350926A>T | CA415184755 | FLNA | c.7115T>A (p.Val2372Asp) c.7139T>A (p.Val2380Asp) c.7058T>A (p.Val2353Asp) c.3920T>A (p.Val1307Asp) c.7196T>A (n.7196T>A) c.280-2236T>A c.7418T>A (n.7418T>A) n.2857T>A c.7019T>A (p.Val2340Asp) c.7095T>A (n.7095T>A) n.3667T>A n.67+1891T>A n.180T>A c.6143T>A (p.Val2048Asp) c.7043T>A (p.Val2348Asp) c.6965T>A (p.Val2322Asp) c.6941T>A (p.Val2314Asp) c.6938T>A (p.Val2313Asp) | |
X | g.154350927C>A | CA415184759 | FLNA | c.7114G>T (p.Val2372Phe) c.7138G>T (p.Val2380Phe) c.7057G>T (p.Val2353Phe) c.3919G>T (p.Val1307Phe) c.7195G>T (n.7195G>T) c.280-2237G>T c.7417G>T (n.7417G>T) n.2856G>T c.7018G>T (p.Val2340Phe) c.7094G>T (n.7094G>T) n.3666G>T n.67+1890G>T n.179G>T c.6142G>T (p.Val2048Phe) c.7042G>T (p.Val2348Phe) c.6964G>T (p.Val2322Phe) c.6940G>T (p.Val2314Phe) c.6937G>T (p.Val2313Phe) | |
X | g.154350927C>G | CA415184762 | FLNA | c.7114G>C (p.Val2372Leu) c.7138G>C (p.Val2380Leu) c.7057G>C (p.Val2353Leu) c.3919G>C (p.Val1307Leu) c.7195G>C (n.7195G>C) c.280-2237G>C c.7417G>C (n.7417G>C) n.2856G>C c.7018G>C (p.Val2340Leu) c.7094G>C (n.7094G>C) n.3666G>C n.67+1890G>C n.179G>C c.6142G>C (p.Val2048Leu) c.7042G>C (p.Val2348Leu) c.6964G>C (p.Val2322Leu) c.6940G>C (p.Val2314Leu) c.6937G>C (p.Val2313Leu) | |
X | g.154350927C>T | CA415184765 | FLNA | c.7114G>A (p.Val2372Ile) c.7138G>A (p.Val2380Ile) c.7057G>A (p.Val2353Ile) c.3919G>A (p.Val1307Ile) c.7195G>A (n.7195G>A) c.280-2237G>A c.7417G>A (n.7417G>A) n.2856G>A c.7018G>A (p.Val2340Ile) c.7094G>A (n.7094G>A) n.3666G>A n.67+1890G>A n.179G>A c.6142G>A (p.Val2048Ile) c.7042G>A (p.Val2348Ile) c.6964G>A (p.Val2322Ile) c.6940G>A (p.Val2314Ile) c.6937G>A (p.Val2313Ile) | gnomAD v4 |
X | g.154350928A>C | CA415184772 | FLNA | c.7113T>G (p.Tyr2371Ter) c.7137T>G (p.Tyr2379Ter) c.7056T>G (p.Tyr2352Ter) c.3918T>G (p.Tyr1306Ter) c.7194T>G (n.7194T>G) c.280-2238T>G c.7416T>G (n.7416T>G) n.2855T>G c.7017T>G (p.Tyr2339Ter) c.7093T>G (n.7093T>G) n.3665T>G n.67+1889T>G n.178T>G c.6141T>G (p.Tyr2047Ter) c.7041T>G (p.Tyr2347Ter) c.6963T>G (p.Tyr2321Ter) c.6939T>G (p.Tyr2313Ter) c.6936T>G (p.Tyr2312Ter) | |
X | g.154350928A>G | CA519276507 | FLNA | c.7113T>C (p.Tyr2371=) c.7137T>C (p.Tyr2379=) c.7056T>C (p.Tyr2352=) c.3918T>C (p.Tyr1306=) c.7194T>C (n.7194T>C) c.280-2238T>C c.7416T>C (n.7416T>C) n.2855T>C c.7017T>C (p.Tyr2339=) c.7093T>C (n.7093T>C) n.3665T>C n.67+1889T>C n.178T>C c.6141T>C (p.Tyr2047=) c.7041T>C (p.Tyr2347=) c.6963T>C (p.Tyr2321=) c.6939T>C (p.Tyr2313=) c.6936T>C (p.Tyr2312=) | ClinVar gnomAD v4 |
X | g.154350928A>T | CA415184768 | FLNA | c.7113T>A (p.Tyr2371Ter) c.7137T>A (p.Tyr2379Ter) c.7056T>A (p.Tyr2352Ter) c.3918T>A (p.Tyr1306Ter) c.7194T>A (n.7194T>A) c.280-2238T>A c.7416T>A (n.7416T>A) n.2855T>A c.7017T>A (p.Tyr2339Ter) c.7093T>A (n.7093T>A) n.3665T>A n.67+1889T>A n.178T>A c.6141T>A (p.Tyr2047Ter) c.7041T>A (p.Tyr2347Ter) c.6963T>A (p.Tyr2321Ter) c.6939T>A (p.Tyr2313Ter) c.6936T>A (p.Tyr2312Ter) | |
X | g.154350929T>A | CA415184776 | FLNA | c.7112A>T (p.Tyr2371Phe) c.7136A>T (p.Tyr2379Phe) c.7055A>T (p.Tyr2352Phe) c.3917A>T (p.Tyr1306Phe) c.7193A>T (n.7193A>T) c.280-2239A>T c.7415A>T (n.7415A>T) n.2854A>T c.7016A>T (p.Tyr2339Phe) c.7092A>T (n.7092A>T) n.3664A>T n.67+1888A>T n.177A>T c.6140A>T (p.Tyr2047Phe) c.7040A>T (p.Tyr2347Phe) c.6962A>T (p.Tyr2321Phe) c.6938A>T (p.Tyr2313Phe) c.6935A>T (p.Tyr2312Phe) | |
X | g.154350929T>C | CA415184780 | FLNA | c.7112A>G (p.Tyr2371Cys) c.7136A>G (p.Tyr2379Cys) c.7055A>G (p.Tyr2352Cys) c.3917A>G (p.Tyr1306Cys) c.7193A>G (n.7193A>G) c.280-2239A>G c.7415A>G (n.7415A>G) n.2854A>G c.7016A>G (p.Tyr2339Cys) c.7092A>G (n.7092A>G) n.3664A>G n.67+1888A>G n.177A>G c.6140A>G (p.Tyr2047Cys) c.7040A>G (p.Tyr2347Cys) c.6962A>G (p.Tyr2321Cys) c.6938A>G (p.Tyr2313Cys) c.6935A>G (p.Tyr2312Cys) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.154350929T>G | CA415184778 | FLNA | c.7112A>C (p.Tyr2371Ser) c.7136A>C (p.Tyr2379Ser) c.7055A>C (p.Tyr2352Ser) c.3917A>C (p.Tyr1306Ser) c.7193A>C (n.7193A>C) c.280-2239A>C c.7415A>C (n.7415A>C) n.2854A>C c.7016A>C (p.Tyr2339Ser) c.7092A>C (n.7092A>C) n.3664A>C n.67+1888A>C n.177A>C c.6140A>C (p.Tyr2047Ser) c.7040A>C (p.Tyr2347Ser) c.6962A>C (p.Tyr2321Ser) c.6938A>C (p.Tyr2313Ser) c.6935A>C (p.Tyr2312Ser) | ClinVar |
X | g.154350929T= | CA2466652359 | FLNA | c.7112A= (p.Tyr2371=) c.7136A= (p.Tyr2379=) c.7055A= (p.Tyr2352=) c.3917A= (p.Tyr1306=) c.7193A= (n.7193A=) c.280-2239A= c.7415A= (n.7415A=) n.2854A= c.7016A= (p.Tyr2339=) c.7092A= (n.7092A=) n.3664A= n.67+1888A= n.177A= c.6140A= (p.Tyr2047=) c.7040A= (p.Tyr2347=) c.6962A= (p.Tyr2321=) c.6938A= (p.Tyr2313=) c.6935A= (p.Tyr2312=) | |
X | g.154350930A= | CA2466652360 | FLNA | c.7111T= (p.Tyr2371=) c.7135T= (p.Tyr2379=) c.7054T= (p.Tyr2352=) c.3916T= (p.Tyr1306=) c.7192T= (n.7192T=) c.280-2240T= c.7414T= (n.7414T=) n.2853T= c.7015T= (p.Tyr2339=) c.7091T= (n.7091T=) n.3663T= n.67+1887T= n.176T= c.6139T= (p.Tyr2047=) c.7039T= (p.Tyr2347=) c.6961T= (p.Tyr2321=) c.6937T= (p.Tyr2313=) c.6934T= (p.Tyr2312=) | |
X | g.154350930A>C | CA415184783 | FLNA | c.7111T>G (p.Tyr2371Asp) c.7135T>G (p.Tyr2379Asp) c.7054T>G (p.Tyr2352Asp) c.3916T>G (p.Tyr1306Asp) c.7192T>G (n.7192T>G) c.280-2240T>G c.7414T>G (n.7414T>G) n.2853T>G c.7015T>G (p.Tyr2339Asp) c.7091T>G (n.7091T>G) n.3663T>G n.67+1887T>G n.176T>G c.6139T>G (p.Tyr2047Asp) c.7039T>G (p.Tyr2347Asp) c.6961T>G (p.Tyr2321Asp) c.6937T>G (p.Tyr2313Asp) c.6934T>G (p.Tyr2312Asp) | |
X | g.154350930A>G | CA324986 | FLNA | c.7111T>C (p.Tyr2371His) c.7135T>C (p.Tyr2379His) c.7054T>C (p.Tyr2352His) c.3916T>C (p.Tyr1306His) c.7192T>C (n.7192T>C) c.280-2240T>C c.7414T>C (n.7414T>C) n.2853T>C c.7015T>C (p.Tyr2339His) c.7091T>C (n.7091T>C) n.3663T>C n.67+1887T>C n.176T>C c.6139T>C (p.Tyr2047His) c.7039T>C (p.Tyr2347His) c.6961T>C (p.Tyr2321His) c.6937T>C (p.Tyr2313His) c.6934T>C (p.Tyr2312His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.154350930A>T | CA415184789 | FLNA | c.7111T>A (p.Tyr2371Asn) c.7135T>A (p.Tyr2379Asn) c.7054T>A (p.Tyr2352Asn) c.3916T>A (p.Tyr1306Asn) c.7192T>A (n.7192T>A) c.280-2240T>A c.7414T>A (n.7414T>A) n.2853T>A c.7015T>A (p.Tyr2339Asn) c.7091T>A (n.7091T>A) n.3663T>A n.67+1887T>A n.176T>A c.6139T>A (p.Tyr2047Asn) c.7039T>A (p.Tyr2347Asn) c.6961T>A (p.Tyr2321Asn) c.6937T>A (p.Tyr2313Asn) c.6934T>A (p.Tyr2312Asn) | |
X | g.154350931G>A | CA519276508 | FLNA | c.7110C>T (p.Cys2370=) c.7134C>T (p.Cys2378=) c.7053C>T (p.Cys2351=) c.3915C>T (p.Cys1305=) c.7191C>T (n.7191C>T) c.280-2241C>T c.7413C>T (n.7413C>T) n.2852C>T c.7014C>T (p.Cys2338=) c.7090C>T (n.7090C>T) n.3662C>T n.67+1886C>T n.175C>T c.6138C>T (p.Cys2046=) c.7038C>T (p.Cys2346=) c.6960C>T (p.Cys2320=) c.6936C>T (p.Cys2312=) c.6933C>T (p.Cys2311=) | |
X | g.154350931G>C | CA415184792 | FLNA | c.7110C>G (p.Cys2370Trp) c.7134C>G (p.Cys2378Trp) c.7053C>G (p.Cys2351Trp) c.3915C>G (p.Cys1305Trp) c.7191C>G (n.7191C>G) c.280-2241C>G c.7413C>G (n.7413C>G) n.2852C>G c.7014C>G (p.Cys2338Trp) c.7090C>G (n.7090C>G) n.3662C>G n.67+1886C>G n.175C>G c.6138C>G (p.Cys2046Trp) c.7038C>G (p.Cys2346Trp) c.6960C>G (p.Cys2320Trp) c.6936C>G (p.Cys2312Trp) c.6933C>G (p.Cys2311Trp) | |
X | g.154350931G>T | CA415184795 | FLNA | c.7110C>A (p.Cys2370Ter) c.7134C>A (p.Cys2378Ter) c.7053C>A (p.Cys2351Ter) c.3915C>A (p.Cys1305Ter) c.7191C>A (n.7191C>A) c.280-2241C>A c.7413C>A (n.7413C>A) n.2852C>A c.7014C>A (p.Cys2338Ter) c.7090C>A (n.7090C>A) n.3662C>A n.67+1886C>A n.175C>A c.6138C>A (p.Cys2046Ter) c.7038C>A (p.Cys2346Ter) c.6960C>A (p.Cys2320Ter) c.6936C>A (p.Cys2312Ter) c.6933C>A (p.Cys2311Ter) | COSMIC COSMIC |
X | g.154350931_154350935delinsA | CA2695237765 | FLNA | c.7106_7110delinsT (p.Glu2369ValfsTer24) c.7130_7134delinsT (p.Glu2377ValfsTer24) c.7049_7053delinsT (p.Glu2350ValfsTer24) c.3911_3915delinsT (p.Glu1304ValfsTer24) c.7187_7191delinsT (n.7187_7191delinsT) c.280-2245_280-2241delinsT c.7409_7413delinsT (n.7409_7413delinsT) n.2848_2852delinsT c.7010_7014delinsT (p.Glu2337ValfsTer24) c.7086_7090delinsT (n.7086_7090delinsT) n.3658_3662delinsT n.67+1882_67+1886delinsT n.171_175delinsT c.6134_6138delinsT (p.Glu2045ValfsTer24) c.7034_7038delinsT (p.Glu2345ValfsTer24) c.6956_6960delinsT (p.Glu2319ValfsTer24) c.6932_6936delinsT (p.Glu2311ValfsTer24) c.6929_6933delinsT (p.Glu2310ValfsTer24) | |
X | g.154350932C>A | CA415184798 | FLNA | c.7109G>T (p.Cys2370Phe) c.7133G>T (p.Cys2378Phe) c.7052G>T (p.Cys2351Phe) c.3914G>T (p.Cys1305Phe) c.7190G>T (n.7190G>T) c.280-2242G>T c.7412G>T (n.7412G>T) n.2851G>T c.7013G>T (p.Cys2338Phe) c.7089G>T (n.7089G>T) n.3661G>T n.67+1885G>T n.174G>T c.6137G>T (p.Cys2046Phe) c.7037G>T (p.Cys2346Phe) c.6959G>T (p.Cys2320Phe) c.6935G>T (p.Cys2312Phe) c.6932G>T (p.Cys2311Phe) | |
X | g.154350932C>G | CA415184800 | FLNA | c.7109G>C (p.Cys2370Ser) c.7133G>C (p.Cys2378Ser) c.7052G>C (p.Cys2351Ser) c.3914G>C (p.Cys1305Ser) c.7190G>C (n.7190G>C) c.280-2242G>C c.7412G>C (n.7412G>C) n.2851G>C c.7013G>C (p.Cys2338Ser) c.7089G>C (n.7089G>C) n.3661G>C n.67+1885G>C n.174G>C c.6137G>C (p.Cys2046Ser) c.7037G>C (p.Cys2346Ser) c.6959G>C (p.Cys2320Ser) c.6935G>C (p.Cys2312Ser) c.6932G>C (p.Cys2311Ser) | |
X | g.154350932C>T | CA415184802 | FLNA | c.7109G>A (p.Cys2370Tyr) c.7133G>A (p.Cys2378Tyr) c.7052G>A (p.Cys2351Tyr) c.3914G>A (p.Cys1305Tyr) c.7190G>A (n.7190G>A) c.280-2242G>A c.7412G>A (n.7412G>A) n.2851G>A c.7013G>A (p.Cys2338Tyr) c.7089G>A (n.7089G>A) n.3661G>A n.67+1885G>A n.174G>A c.6137G>A (p.Cys2046Tyr) c.7037G>A (p.Cys2346Tyr) c.6959G>A (p.Cys2320Tyr) c.6935G>A (p.Cys2312Tyr) c.6932G>A (p.Cys2311Tyr) | |
X | g.154350933A= | CA2466652361 | FLNA | c.7108T= (p.Cys2370=) c.7132T= (p.Cys2378=) c.7051T= (p.Cys2351=) c.3913T= (p.Cys1305=) c.7189T= (n.7189T=) c.280-2243T= c.7411T= (n.7411T=) n.2850T= c.7012T= (p.Cys2338=) c.7088T= (n.7088T=) n.3660T= n.67+1884T= n.173T= c.6136T= (p.Cys2046=) c.7036T= (p.Cys2346=) c.6958T= (p.Cys2320=) c.6934T= (p.Cys2312=) c.6931T= (p.Cys2311=) | |
X | g.154350933A>C | CA415184805 | FLNA | c.7108T>G (p.Cys2370Gly) c.7132T>G (p.Cys2378Gly) c.7051T>G (p.Cys2351Gly) c.3913T>G (p.Cys1305Gly) c.7189T>G (n.7189T>G) c.280-2243T>G c.7411T>G (n.7411T>G) n.2850T>G c.7012T>G (p.Cys2338Gly) c.7088T>G (n.7088T>G) n.3660T>G n.67+1884T>G n.173T>G c.6136T>G (p.Cys2046Gly) c.7036T>G (p.Cys2346Gly) c.6958T>G (p.Cys2320Gly) c.6934T>G (p.Cys2312Gly) c.6931T>G (p.Cys2311Gly) | |
X | g.154350933A>G | CA415184810 | FLNA | c.7108T>C (p.Cys2370Arg) c.7132T>C (p.Cys2378Arg) c.7051T>C (p.Cys2351Arg) c.3913T>C (p.Cys1305Arg) c.7189T>C (n.7189T>C) c.280-2243T>C c.7411T>C (n.7411T>C) n.2850T>C c.7012T>C (p.Cys2338Arg) c.7088T>C (n.7088T>C) n.3660T>C n.67+1884T>C n.173T>C c.6136T>C (p.Cys2046Arg) c.7036T>C (p.Cys2346Arg) c.6958T>C (p.Cys2320Arg) c.6934T>C (p.Cys2312Arg) c.6931T>C (p.Cys2311Arg) | |
X | g.154350933A>T | CA415184812 | FLNA | c.7108T>A (p.Cys2370Ser) c.7132T>A (p.Cys2378Ser) c.7051T>A (p.Cys2351Ser) c.3913T>A (p.Cys1305Ser) c.7189T>A (n.7189T>A) c.280-2243T>A c.7411T>A (n.7411T>A) n.2850T>A c.7012T>A (p.Cys2338Ser) c.7088T>A (n.7088T>A) n.3660T>A n.67+1884T>A n.173T>A c.6136T>A (p.Cys2046Ser) c.7036T>A (p.Cys2346Ser) c.6958T>A (p.Cys2320Ser) c.6934T>A (p.Cys2312Ser) c.6931T>A (p.Cys2311Ser) | |
X | g.154350934C>A | CA415184815 | FLNA | c.7107G>T (p.Glu2369Asp) c.7131G>T (p.Glu2377Asp) c.7050G>T (p.Glu2350Asp) c.3912G>T (p.Glu1304Asp) c.7188G>T (n.7188G>T) c.280-2244G>T c.7410G>T (n.7410G>T) n.2849G>T c.7011G>T (p.Glu2337Asp) c.7087G>T (n.7087G>T) n.3659G>T n.67+1883G>T n.172G>T c.6135G>T (p.Glu2045Asp) c.7035G>T (p.Glu2345Asp) c.6957G>T (p.Glu2319Asp) c.6933G>T (p.Glu2311Asp) c.6930G>T (p.Glu2310Asp) | |
X | g.154350934C= | CA2466652363 | FLNA | c.7107G= (p.Glu2369=) c.7131G= (p.Glu2377=) c.7050G= (p.Glu2350=) c.3912G= (p.Glu1304=) c.7188G= (n.7188G=) c.280-2244G= c.7410G= (n.7410G=) n.2849G= c.7011G= (p.Glu2337=) c.7087G= (n.7087G=) n.3659G= n.67+1883G= n.172G= c.6135G= (p.Glu2045=) c.7035G= (p.Glu2345=) c.6957G= (p.Glu2319=) c.6933G= (p.Glu2311=) c.6930G= (p.Glu2310=) | |
X | g.154350934C>G | CA415184819 | FLNA | c.7107G>C (p.Glu2369Asp) c.7131G>C (p.Glu2377Asp) c.7050G>C (p.Glu2350Asp) c.3912G>C (p.Glu1304Asp) c.7188G>C (n.7188G>C) c.280-2244G>C c.7410G>C (n.7410G>C) n.2849G>C c.7011G>C (p.Glu2337Asp) c.7087G>C (n.7087G>C) n.3659G>C n.67+1883G>C n.172G>C c.6135G>C (p.Glu2045Asp) c.7035G>C (p.Glu2345Asp) c.6957G>C (p.Glu2319Asp) c.6933G>C (p.Glu2311Asp) c.6930G>C (p.Glu2310Asp) | |
X | g.154350934C>T | CA10559953 | FLNA | c.7107G>A (p.Glu2369=) c.7131G>A (p.Glu2377=) c.7050G>A (p.Glu2350=) c.3912G>A (p.Glu1304=) c.7188G>A (n.7188G>A) c.280-2244G>A c.7410G>A (n.7410G>A) n.2849G>A c.7011G>A (p.Glu2337=) c.7087G>A (n.7087G>A) n.3659G>A n.67+1883G>A n.172G>A c.6135G>A (p.Glu2045=) c.7035G>A (p.Glu2345=) c.6957G>A (p.Glu2319=) c.6933G>A (p.Glu2311=) c.6930G>A (p.Glu2310=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.154350938_154350940dup | CA2466652362 | FLNA | c.7105_7107dup (p.Glu2369_Cys2370insGlu) c.7129_7131dup (p.Glu2377_Cys2378insGlu) c.7048_7050dup (p.Glu2350_Cys2351insGlu) c.3910_3912dup (p.Glu1304_Cys1305insGlu) c.7186_7188dup (n.7186_7188dup) c.280-2246_280-2244dup c.7408_7410dup (n.7408_7410dup) n.2847_2849dup c.7009_7011dup (p.Glu2337_Cys2338insGlu) c.7085_7087dup (n.7085_7087dup) n.3657_3659dup n.67+1881_67+1883dup n.170_172dup c.6133_6135dup (p.Glu2045_Cys2046insGlu) c.7033_7035dup (p.Glu2345_Cys2346insGlu) c.6955_6957dup (p.Glu2319_Cys2320insGlu) c.6931_6933dup (p.Glu2311_Cys2312insGlu) c.6928_6930dup (p.Glu2310_Cys2311insGlu) | dbSNP |
X | g.154350935T>A | CA415184825 | FLNA | c.7106A>T (p.Glu2369Val) c.7130A>T (p.Glu2377Val) c.7049A>T (p.Glu2350Val) c.3911A>T (p.Glu1304Val) c.7187A>T (n.7187A>T) c.280-2245A>T c.7409A>T (n.7409A>T) n.2848A>T c.7010A>T (p.Glu2337Val) c.7086A>T (n.7086A>T) n.3658A>T n.67+1882A>T n.171A>T c.6134A>T (p.Glu2045Val) c.7034A>T (p.Glu2345Val) c.6956A>T (p.Glu2319Val) c.6932A>T (p.Glu2311Val) c.6929A>T (p.Glu2310Val) | dbSNP gnomAD v2 gnomAD v4 |
X | g.154350935T>C | CA415184832 | FLNA | c.7106A>G (p.Glu2369Gly) c.7130A>G (p.Glu2377Gly) c.7049A>G (p.Glu2350Gly) c.3911A>G (p.Glu1304Gly) c.7187A>G (n.7187A>G) c.280-2245A>G c.7409A>G (n.7409A>G) n.2848A>G c.7010A>G (p.Glu2337Gly) c.7086A>G (n.7086A>G) n.3658A>G n.67+1882A>G n.171A>G c.6134A>G (p.Glu2045Gly) c.7034A>G (p.Glu2345Gly) c.6956A>G (p.Glu2319Gly) c.6932A>G (p.Glu2311Gly) c.6929A>G (p.Glu2310Gly) | |
X | g.154350935T>G | CA415184835 | FLNA | c.7106A>C (p.Glu2369Ala) c.7130A>C (p.Glu2377Ala) c.7049A>C (p.Glu2350Ala) c.3911A>C (p.Glu1304Ala) c.7187A>C (n.7187A>C) c.280-2245A>C c.7409A>C (n.7409A>C) n.2848A>C c.7010A>C (p.Glu2337Ala) c.7086A>C (n.7086A>C) n.3658A>C n.67+1882A>C n.171A>C c.6134A>C (p.Glu2045Ala) c.7034A>C (p.Glu2345Ala) c.6956A>C (p.Glu2319Ala) c.6932A>C (p.Glu2311Ala) c.6929A>C (p.Glu2310Ala) | |
X | g.154350935T= | CA2466652364 | FLNA | c.7106A= (p.Glu2369=) c.7130A= (p.Glu2377=) c.7049A= (p.Glu2350=) c.3911A= (p.Glu1304=) c.7187A= (n.7187A=) c.280-2245A= c.7409A= (n.7409A=) n.2848A= c.7010A= (p.Glu2337=) c.7086A= (n.7086A=) n.3658A= n.67+1882A= n.171A= c.6134A= (p.Glu2045=) c.7034A= (p.Glu2345=) c.6956A= (p.Glu2319=) c.6932A= (p.Glu2311=) c.6929A= (p.Glu2310=) | |
X | g.154350936C>A | CA415184838 | FLNA | c.7105G>T (p.Glu2369Ter) c.7129G>T (p.Glu2377Ter) c.7048G>T (p.Glu2350Ter) c.3910G>T (p.Glu1304Ter) c.7186G>T (n.7186G>T) c.280-2246G>T c.7408G>T (n.7408G>T) n.2847G>T c.7009G>T (p.Glu2337Ter) c.7085G>T (n.7085G>T) n.3657G>T n.67+1881G>T n.170G>T c.6133G>T (p.Glu2045Ter) c.7033G>T (p.Glu2345Ter) c.6955G>T (p.Glu2319Ter) c.6931G>T (p.Glu2311Ter) c.6928G>T (p.Glu2310Ter) | |
X | g.154350936C>G | CA415184841 | FLNA | c.7105G>C (p.Glu2369Gln) c.7129G>C (p.Glu2377Gln) c.7048G>C (p.Glu2350Gln) c.3910G>C (p.Glu1304Gln) c.7186G>C (n.7186G>C) c.280-2246G>C c.7408G>C (n.7408G>C) n.2847G>C c.7009G>C (p.Glu2337Gln) c.7085G>C (n.7085G>C) n.3657G>C n.67+1881G>C n.170G>C c.6133G>C (p.Glu2045Gln) c.7033G>C (p.Glu2345Gln) c.6955G>C (p.Glu2319Gln) c.6931G>C (p.Glu2311Gln) c.6928G>C (p.Glu2310Gln) | |
X | g.154350936C>T | CA415184844 | FLNA | c.7105G>A (p.Glu2369Lys) c.7129G>A (p.Glu2377Lys) c.7048G>A (p.Glu2350Lys) c.3910G>A (p.Glu1304Lys) c.7186G>A (n.7186G>A) c.280-2246G>A c.7408G>A (n.7408G>A) n.2847G>A c.7009G>A (p.Glu2337Lys) c.7085G>A (n.7085G>A) n.3657G>A n.67+1881G>A n.170G>A c.6133G>A (p.Glu2045Lys) c.7033G>A (p.Glu2345Lys) c.6955G>A (p.Glu2319Lys) c.6931G>A (p.Glu2311Lys) c.6928G>A (p.Glu2310Lys) | |
X | g.154350937C>A | CA415184846 | FLNA | c.7104G>T (p.Glu2368Asp) c.7128G>T (p.Glu2376Asp) c.7047G>T (p.Glu2349Asp) c.3909G>T (p.Glu1303Asp) c.7185G>T (n.7185G>T) c.280-2247G>T c.7407G>T (n.7407G>T) n.2846G>T c.7008G>T (p.Glu2336Asp) c.7084G>T (n.7084G>T) n.3656G>T n.67+1880G>T n.169G>T c.6132G>T (p.Glu2044Asp) c.7032G>T (p.Glu2344Asp) c.6954G>T (p.Glu2318Asp) c.6930G>T (p.Glu2310Asp) c.6927G>T (p.Glu2309Asp) | |
X | g.154350937C= | CA2466652365 | FLNA | c.7104G= (p.Glu2368=) c.7128G= (p.Glu2376=) c.7047G= (p.Glu2349=) c.3909G= (p.Glu1303=) c.7185G= (n.7185G=) c.280-2247G= c.7407G= (n.7407G=) n.2846G= c.7008G= (p.Glu2336=) c.7084G= (n.7084G=) n.3656G= n.67+1880G= n.169G= c.6132G= (p.Glu2044=) c.7032G= (p.Glu2344=) c.6954G= (p.Glu2318=) c.6930G= (p.Glu2310=) c.6927G= (p.Glu2309=) | |
X | g.154350937C>G | CA415184849 | FLNA | c.7104G>C (p.Glu2368Asp) c.7128G>C (p.Glu2376Asp) c.7047G>C (p.Glu2349Asp) c.3909G>C (p.Glu1303Asp) c.7185G>C (n.7185G>C) c.280-2247G>C c.7407G>C (n.7407G>C) n.2846G>C c.7008G>C (p.Glu2336Asp) c.7084G>C (n.7084G>C) n.3656G>C n.67+1880G>C n.169G>C c.6132G>C (p.Glu2044Asp) c.7032G>C (p.Glu2344Asp) c.6954G>C (p.Glu2318Asp) c.6930G>C (p.Glu2310Asp) c.6927G>C (p.Glu2309Asp) | |
X | g.154350937C>T | CA10559954 | FLNA | c.7104G>A (p.Glu2368=) c.7128G>A (p.Glu2376=) c.7047G>A (p.Glu2349=) c.3909G>A (p.Glu1303=) c.7185G>A (n.7185G>A) c.280-2247G>A c.7407G>A (n.7407G>A) n.2846G>A c.7008G>A (p.Glu2336=) c.7084G>A (n.7084G>A) n.3656G>A n.67+1880G>A n.169G>A c.6132G>A (p.Glu2044=) c.7032G>A (p.Glu2344=) c.6954G>A (p.Glu2318=) c.6930G>A (p.Glu2310=) c.6927G>A (p.Glu2309=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.154350938T>A | CA415184860 | FLNA | c.7103A>T (p.Glu2368Val) c.7127A>T (p.Glu2376Val) c.7046A>T (p.Glu2349Val) c.3908A>T (p.Glu1303Val) c.7184A>T (n.7184A>T) c.280-2248A>T c.7406A>T (n.7406A>T) n.2845A>T c.7007A>T (p.Glu2336Val) c.7083A>T (n.7083A>T) n.3655A>T n.67+1879A>T n.168A>T c.6131A>T (p.Glu2044Val) c.7031A>T (p.Glu2344Val) c.6953A>T (p.Glu2318Val) c.6929A>T (p.Glu2310Val) c.6926A>T (p.Glu2309Val) | |
X | g.154350938T>C | CA415184862 | FLNA | c.7103A>G (p.Glu2368Gly) c.7127A>G (p.Glu2376Gly) c.7046A>G (p.Glu2349Gly) c.3908A>G (p.Glu1303Gly) c.7184A>G (n.7184A>G) c.280-2248A>G c.7406A>G (n.7406A>G) n.2845A>G c.7007A>G (p.Glu2336Gly) c.7083A>G (n.7083A>G) n.3655A>G n.67+1879A>G n.168A>G c.6131A>G (p.Glu2044Gly) c.7031A>G (p.Glu2344Gly) c.6953A>G (p.Glu2318Gly) c.6929A>G (p.Glu2310Gly) c.6926A>G (p.Glu2309Gly) | |
X | g.154350938T>G | CA415184857 | FLNA | c.7103A>C (p.Glu2368Ala) c.7127A>C (p.Glu2376Ala) c.7046A>C (p.Glu2349Ala) c.3908A>C (p.Glu1303Ala) c.7184A>C (n.7184A>C) c.280-2248A>C c.7406A>C (n.7406A>C) n.2845A>C c.7007A>C (p.Glu2336Ala) c.7083A>C (n.7083A>C) n.3655A>C n.67+1879A>C n.168A>C c.6131A>C (p.Glu2044Ala) c.7031A>C (p.Glu2344Ala) c.6953A>C (p.Glu2318Ala) c.6929A>C (p.Glu2310Ala) c.6926A>C (p.Glu2309Ala) | |
X | g.154350939C>A | CA415184865 | FLNA | c.7102G>T (p.Glu2368Ter) c.7126G>T (p.Glu2376Ter) c.7045G>T (p.Glu2349Ter) c.3907G>T (p.Glu1303Ter) c.7183G>T (n.7183G>T) c.280-2249G>T c.7405G>T (n.7405G>T) n.2844G>T c.7006G>T (p.Glu2336Ter) c.7082G>T (n.7082G>T) n.3654G>T n.67+1878G>T n.167G>T c.6130G>T (p.Glu2044Ter) c.7030G>T (p.Glu2344Ter) c.6952G>T (p.Glu2318Ter) c.6928G>T (p.Glu2310Ter) c.6925G>T (p.Glu2309Ter) | |
X | g.154350939C>G | CA415184874 | FLNA | c.7102G>C (p.Glu2368Gln) c.7126G>C (p.Glu2376Gln) c.7045G>C (p.Glu2349Gln) c.3907G>C (p.Glu1303Gln) c.7183G>C (n.7183G>C) c.280-2249G>C c.7405G>C (n.7405G>C) n.2844G>C c.7006G>C (p.Glu2336Gln) c.7082G>C (n.7082G>C) n.3654G>C n.67+1878G>C n.167G>C c.6130G>C (p.Glu2044Gln) c.7030G>C (p.Glu2344Gln) c.6952G>C (p.Glu2318Gln) c.6928G>C (p.Glu2310Gln) c.6925G>C (p.Glu2309Gln) | |
X | g.154350939C>T | CA415184878 | FLNA | c.7102G>A (p.Glu2368Lys) c.7126G>A (p.Glu2376Lys) c.7045G>A (p.Glu2349Lys) c.3907G>A (p.Glu1303Lys) c.7183G>A (n.7183G>A) c.280-2249G>A c.7405G>A (n.7405G>A) n.2844G>A c.7006G>A (p.Glu2336Lys) c.7082G>A (n.7082G>A) n.3654G>A n.67+1878G>A n.167G>A c.6130G>A (p.Glu2044Lys) c.7030G>A (p.Glu2344Lys) c.6952G>A (p.Glu2318Lys) c.6928G>A (p.Glu2310Lys) c.6925G>A (p.Glu2309Lys) | gnomAD v4 |
X | g.154350940del | CA2579737687 | FLNA | c.7102del (p.Glu2368ArgfsTer26) c.7126del (p.Glu2376ArgfsTer26) c.7045del (p.Glu2349ArgfsTer26) c.3907del (p.Glu1303ArgfsTer26) c.7183del (n.7183del) c.280-2249del c.7405del (n.7405del) n.2844del c.7006del (p.Glu2336ArgfsTer26) c.7082del (n.7082del) n.3654del n.67+1878del n.167del c.6130del (p.Glu2044ArgfsTer26) c.7030del (p.Glu2344ArgfsTer26) c.6952del (p.Glu2318ArgfsTer26) c.6928del (p.Glu2310ArgfsTer26) c.6925del (p.Glu2309ArgfsTer26) | |
X | g.154350940C>A | CA519276509 | FLNA | c.7101G>T (p.Leu2367=) c.7125G>T (p.Leu2375=) c.7044G>T (p.Leu2348=) c.3906G>T (p.Leu1302=) c.7182G>T (n.7182G>T) c.280-2250G>T c.7404G>T (n.7404G>T) n.2843G>T c.7005G>T (p.Leu2335=) c.7081G>T (n.7081G>T) n.3653G>T n.67+1877G>T n.166G>T c.6129G>T (p.Leu2043=) c.7029G>T (p.Leu2343=) c.6951G>T (p.Leu2317=) c.6927G>T (p.Leu2309=) c.6924G>T (p.Leu2308=) | |
X | g.154350940C= | CA2466652366 | FLNA | c.7101G= (p.Leu2367=) c.7125G= (p.Leu2375=) c.7044G= (p.Leu2348=) c.3906G= (p.Leu1302=) c.7182G= (n.7182G=) c.280-2250G= c.7404G= (n.7404G=) n.2843G= c.7005G= (p.Leu2335=) c.7081G= (n.7081G=) n.3653G= n.67+1877G= n.166G= c.6129G= (p.Leu2043=) c.7029G= (p.Leu2343=) c.6951G= (p.Leu2317=) c.6927G= (p.Leu2309=) c.6924G= (p.Leu2308=) | |
X | g.154350940C>G | CA519276510 | FLNA | c.7101G>C (p.Leu2367=) c.7125G>C (p.Leu2375=) c.7044G>C (p.Leu2348=) c.3906G>C (p.Leu1302=) c.7182G>C (n.7182G>C) c.280-2250G>C c.7404G>C (n.7404G>C) n.2843G>C c.7005G>C (p.Leu2335=) c.7081G>C (n.7081G>C) n.3653G>C n.67+1877G>C n.166G>C c.6129G>C (p.Leu2043=) c.7029G>C (p.Leu2343=) c.6951G>C (p.Leu2317=) c.6927G>C (p.Leu2309=) c.6924G>C (p.Leu2308=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.154350940C>T | CA519276511 | FLNA | c.7101G>A (p.Leu2367=) c.7125G>A (p.Leu2375=) c.7044G>A (p.Leu2348=) c.3906G>A (p.Leu1302=) c.7182G>A (n.7182G>A) c.280-2250G>A c.7404G>A (n.7404G>A) n.2843G>A c.7005G>A (p.Leu2335=) c.7081G>A (n.7081G>A) n.3653G>A n.67+1877G>A n.166G>A c.6129G>A (p.Leu2043=) c.7029G>A (p.Leu2343=) c.6951G>A (p.Leu2317=) c.6927G>A (p.Leu2309=) c.6924G>A (p.Leu2308=) | |
X | g.154350941A>C | CA415184882 | FLNA | c.7100T>G (p.Leu2367Arg) c.7124T>G (p.Leu2375Arg) c.7043T>G (p.Leu2348Arg) c.3905T>G (p.Leu1302Arg) c.7181T>G (n.7181T>G) c.280-2251T>G c.7403T>G (n.7403T>G) n.2842T>G c.7004T>G (p.Leu2335Arg) c.7080T>G (n.7080T>G) n.3652T>G n.67+1876T>G n.165T>G c.6128T>G (p.Leu2043Arg) c.7028T>G (p.Leu2343Arg) c.6950T>G (p.Leu2317Arg) c.6926T>G (p.Leu2309Arg) c.6923T>G (p.Leu2308Arg) | |
X | g.154350941A>G | CA415184885 | FLNA | c.7100T>C (p.Leu2367Pro) c.7124T>C (p.Leu2375Pro) c.7043T>C (p.Leu2348Pro) c.3905T>C (p.Leu1302Pro) c.7181T>C (n.7181T>C) c.280-2251T>C c.7403T>C (n.7403T>C) n.2842T>C c.7004T>C (p.Leu2335Pro) c.7080T>C (n.7080T>C) n.3652T>C n.67+1876T>C n.165T>C c.6128T>C (p.Leu2043Pro) c.7028T>C (p.Leu2343Pro) c.6950T>C (p.Leu2317Pro) c.6926T>C (p.Leu2309Pro) c.6923T>C (p.Leu2308Pro) | |
X | g.154350941A>T | CA415184888 | FLNA | c.7100T>A (p.Leu2367Gln) c.7124T>A (p.Leu2375Gln) c.7043T>A (p.Leu2348Gln) c.3905T>A (p.Leu1302Gln) c.7181T>A (n.7181T>A) c.280-2251T>A c.7403T>A (n.7403T>A) n.2842T>A c.7004T>A (p.Leu2335Gln) c.7080T>A (n.7080T>A) n.3652T>A n.67+1876T>A n.165T>A c.6128T>A (p.Leu2043Gln) c.7028T>A (p.Leu2343Gln) c.6950T>A (p.Leu2317Gln) c.6926T>A (p.Leu2309Gln) c.6923T>A (p.Leu2308Gln) | |
X | g.154350942G>A | CA519276512 | FLNA | c.7099C>T (p.Leu2367=) c.7123C>T (p.Leu2375=) c.7042C>T (p.Leu2348=) c.3904C>T (p.Leu1302=) c.7180C>T (n.7180C>T) c.280-2252C>T c.7402C>T (n.7402C>T) n.2841C>T c.7003C>T (p.Leu2335=) c.7079C>T (n.7079C>T) n.3651C>T n.67+1875C>T n.164C>T c.6127C>T (p.Leu2043=) c.7027C>T (p.Leu2343=) c.6949C>T (p.Leu2317=) c.6925C>T (p.Leu2309=) c.6922C>T (p.Leu2308=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.154350942G>C | CA415184890 | FLNA | c.7099C>G (p.Leu2367Val) c.7123C>G (p.Leu2375Val) c.7042C>G (p.Leu2348Val) c.3904C>G (p.Leu1302Val) c.7180C>G (n.7180C>G) c.280-2252C>G c.7402C>G (n.7402C>G) n.2841C>G c.7003C>G (p.Leu2335Val) c.7079C>G (n.7079C>G) n.3651C>G n.67+1875C>G n.164C>G c.6127C>G (p.Leu2043Val) c.7027C>G (p.Leu2343Val) c.6949C>G (p.Leu2317Val) c.6925C>G (p.Leu2309Val) c.6922C>G (p.Leu2308Val) | |
X | g.154350942G= | CA2466652367 | FLNA | c.7099C= (p.Leu2367=) c.7123C= (p.Leu2375=) c.7042C= (p.Leu2348=) c.3904C= (p.Leu1302=) c.7180C= (n.7180C=) c.280-2252C= c.7402C= (n.7402C=) n.2841C= c.7003C= (p.Leu2335=) c.7079C= (n.7079C=) n.3651C= n.67+1875C= n.164C= c.6127C= (p.Leu2043=) c.7027C= (p.Leu2343=) c.6949C= (p.Leu2317=) c.6925C= (p.Leu2309=) c.6922C= (p.Leu2308=) | |
X | g.154350942G>T | CA415184893 | FLNA | c.7099C>A (p.Leu2367Met) c.7123C>A (p.Leu2375Met) c.7042C>A (p.Leu2348Met) c.3904C>A (p.Leu1302Met) c.7180C>A (n.7180C>A) c.280-2252C>A c.7402C>A (n.7402C>A) n.2841C>A c.7003C>A (p.Leu2335Met) c.7079C>A (n.7079C>A) n.3651C>A n.67+1875C>A n.164C>A c.6127C>A (p.Leu2043Met) c.7027C>A (p.Leu2343Met) c.6949C>A (p.Leu2317Met) c.6925C>A (p.Leu2309Met) c.6922C>A (p.Leu2308Met) | |
X | g.154350943G>A | CA519276513 | FLNA | c.7098C>T (p.Ala2366=) c.7122C>T (p.Ala2374=) c.7041C>T (p.Ala2347=) c.3903C>T (p.Ala1301=) c.7179C>T (n.7179C>T) c.280-2253C>T c.7401C>T (n.7401C>T) n.2840C>T c.7002C>T (p.Ala2334=) c.7078C>T (n.7078C>T) n.3650C>T n.67+1874C>T n.163C>T c.6126C>T (p.Ala2042=) c.7026C>T (p.Ala2342=) c.6948C>T (p.Ala2316=) c.6924C>T (p.Ala2308=) c.6921C>T (p.Ala2307=) | ClinVar dbSNP |
X | g.154350943G>C | CA519276514 | FLNA | c.7098C>G (p.Ala2366=) c.7122C>G (p.Ala2374=) c.7041C>G (p.Ala2347=) c.3903C>G (p.Ala1301=) c.7179C>G (n.7179C>G) c.280-2253C>G c.7401C>G (n.7401C>G) n.2840C>G c.7002C>G (p.Ala2334=) c.7078C>G (n.7078C>G) n.3650C>G n.67+1874C>G n.163C>G c.6126C>G (p.Ala2042=) c.7026C>G (p.Ala2342=) c.6948C>G (p.Ala2316=) c.6924C>G (p.Ala2308=) c.6921C>G (p.Ala2307=) | COSMIC COSMIC |
X | g.154350943G= | CA2466652368 | FLNA | c.7098C= (p.Ala2366=) c.7122C= (p.Ala2374=) c.7041C= (p.Ala2347=) c.3903C= (p.Ala1301=) c.7179C= (n.7179C=) c.280-2253C= c.7401C= (n.7401C=) n.2840C= c.7002C= (p.Ala2334=) c.7078C= (n.7078C=) n.3650C= n.67+1874C= n.163C= c.6126C= (p.Ala2042=) c.7026C= (p.Ala2342=) c.6948C= (p.Ala2316=) c.6924C= (p.Ala2308=) c.6921C= (p.Ala2307=) | |
X | g.154350943G>T | CA519276515 | FLNA | c.7098C>A (p.Ala2366=) c.7122C>A (p.Ala2374=) c.7041C>A (p.Ala2347=) c.3903C>A (p.Ala1301=) c.7179C>A (n.7179C>A) c.280-2253C>A c.7401C>A (n.7401C>A) n.2840C>A c.7002C>A (p.Ala2334=) c.7078C>A (n.7078C>A) n.3650C>A n.67+1874C>A n.163C>A c.6126C>A (p.Ala2042=) c.7026C>A (p.Ala2342=) c.6948C>A (p.Ala2316=) c.6924C>A (p.Ala2308=) c.6921C>A (p.Ala2307=) | |
X | g.154350944G>A | CA415184896 | FLNA | c.7097C>T (p.Ala2366Val) c.7121C>T (p.Ala2374Val) c.7040C>T (p.Ala2347Val) c.3902C>T (p.Ala1301Val) c.7178C>T (n.7178C>T) c.280-2254C>T c.7400C>T (n.7400C>T) n.2839C>T c.7001C>T (p.Ala2334Val) c.7077C>T (n.7077C>T) n.3649C>T n.67+1873C>T n.162C>T c.6125C>T (p.Ala2042Val) c.7025C>T (p.Ala2342Val) c.6947C>T (p.Ala2316Val) c.6923C>T (p.Ala2308Val) c.6920C>T (p.Ala2307Val) | dbSNP gnomAD v2 |
X | g.154350944G>C | CA415184898 | FLNA | c.7097C>G (p.Ala2366Gly) c.7121C>G (p.Ala2374Gly) c.7040C>G (p.Ala2347Gly) c.3902C>G (p.Ala1301Gly) c.7178C>G (n.7178C>G) c.280-2254C>G c.7400C>G (n.7400C>G) n.2839C>G c.7001C>G (p.Ala2334Gly) c.7077C>G (n.7077C>G) n.3649C>G n.67+1873C>G n.162C>G c.6125C>G (p.Ala2042Gly) c.7025C>G (p.Ala2342Gly) c.6947C>G (p.Ala2316Gly) c.6923C>G (p.Ala2308Gly) c.6920C>G (p.Ala2307Gly) | |
X | g.154350944G= | CA2466652369 | FLNA | c.7097C= (p.Ala2366=) c.7121C= (p.Ala2374=) c.7040C= (p.Ala2347=) c.3902C= (p.Ala1301=) c.7178C= (n.7178C=) c.280-2254C= c.7400C= (n.7400C=) n.2839C= c.7001C= (p.Ala2334=) c.7077C= (n.7077C=) n.3649C= n.67+1873C= n.162C= c.6125C= (p.Ala2042=) c.7025C= (p.Ala2342=) c.6947C= (p.Ala2316=) c.6923C= (p.Ala2308=) c.6920C= (p.Ala2307=) | |
X | g.154350944G>T | CA415184899 | FLNA | c.7097C>A (p.Ala2366Asp) c.7121C>A (p.Ala2374Asp) c.7040C>A (p.Ala2347Asp) c.3902C>A (p.Ala1301Asp) c.7178C>A (n.7178C>A) c.280-2254C>A c.7400C>A (n.7400C>A) n.2839C>A c.7001C>A (p.Ala2334Asp) c.7077C>A (n.7077C>A) n.3649C>A n.67+1873C>A n.162C>A c.6125C>A (p.Ala2042Asp) c.7025C>A (p.Ala2342Asp) c.6947C>A (p.Ala2316Asp) c.6923C>A (p.Ala2308Asp) c.6920C>A (p.Ala2307Asp) | |
X | g.154350945C>A | CA415184906 | FLNA | c.7096G>T (p.Ala2366Ser) c.7120G>T (p.Ala2374Ser) c.7039G>T (p.Ala2347Ser) c.3901G>T (p.Ala1301Ser) c.7177G>T (n.7177G>T) c.280-2255G>T c.7399G>T (n.7399G>T) n.2838G>T c.7000G>T (p.Ala2334Ser) c.7076G>T (n.7076G>T) n.3648G>T n.67+1872G>T n.161G>T c.6124G>T (p.Ala2042Ser) c.7024G>T (p.Ala2342Ser) c.6946G>T (p.Ala2316Ser) c.6922G>T (p.Ala2308Ser) c.6919G>T (p.Ala2307Ser) | |
X | g.154350945C>G | CA415184909 | FLNA | c.7096G>C (p.Ala2366Pro) c.7120G>C (p.Ala2374Pro) c.7039G>C (p.Ala2347Pro) c.3901G>C (p.Ala1301Pro) c.7177G>C (n.7177G>C) c.280-2255G>C c.7399G>C (n.7399G>C) n.2838G>C c.7000G>C (p.Ala2334Pro) c.7076G>C (n.7076G>C) n.3648G>C n.67+1872G>C n.161G>C c.6124G>C (p.Ala2042Pro) c.7024G>C (p.Ala2342Pro) c.6946G>C (p.Ala2316Pro) c.6922G>C (p.Ala2308Pro) c.6919G>C (p.Ala2307Pro) | |
X | g.154350945C>T | CA415184903 | FLNA | c.7096G>A (p.Ala2366Thr) c.7120G>A (p.Ala2374Thr) c.7039G>A (p.Ala2347Thr) c.3901G>A (p.Ala1301Thr) c.7177G>A (n.7177G>A) c.280-2255G>A c.7399G>A (n.7399G>A) n.2838G>A c.7000G>A (p.Ala2334Thr) c.7076G>A (n.7076G>A) n.3648G>A n.67+1872G>A n.161G>A c.6124G>A (p.Ala2042Thr) c.7024G>A (p.Ala2342Thr) c.6946G>A (p.Ala2316Thr) c.6922G>A (p.Ala2308Thr) c.6919G>A (p.Ala2307Thr) | |
X | g.154350946T>A | CA519276516 | FLNA | c.7095A>T (p.Gly2365=) c.7119A>T (p.Gly2373=) c.7038A>T (p.Gly2346=) c.3900A>T (p.Gly1300=) c.7176A>T (n.7176A>T) c.280-2256A>T c.7398A>T (n.7398A>T) n.2837A>T c.6999A>T (p.Gly2333=) c.7075A>T (n.7075A>T) n.3647A>T n.67+1871A>T n.160A>T c.6123A>T (p.Gly2041=) c.7023A>T (p.Gly2341=) c.6945A>T (p.Gly2315=) c.6921A>T (p.Gly2307=) c.6918A>T (p.Gly2306=) | |
X | g.154350946T>C | CA519276518 | FLNA | c.7095A>G (p.Gly2365=) c.7119A>G (p.Gly2373=) c.7038A>G (p.Gly2346=) c.3900A>G (p.Gly1300=) c.7176A>G (n.7176A>G) c.280-2256A>G c.7398A>G (n.7398A>G) n.2837A>G c.6999A>G (p.Gly2333=) c.7075A>G (n.7075A>G) n.3647A>G n.67+1871A>G n.160A>G c.6123A>G (p.Gly2041=) c.7023A>G (p.Gly2341=) c.6945A>G (p.Gly2315=) c.6921A>G (p.Gly2307=) c.6918A>G (p.Gly2306=) | |
X | g.154350946T>G | CA519276517 | FLNA | c.7095A>C (p.Gly2365=) c.7119A>C (p.Gly2373=) c.7038A>C (p.Gly2346=) c.3900A>C (p.Gly1300=) c.7176A>C (n.7176A>C) c.280-2256A>C c.7398A>C (n.7398A>C) n.2837A>C c.6999A>C (p.Gly2333=) c.7075A>C (n.7075A>C) n.3647A>C n.67+1871A>C n.160A>C c.6123A>C (p.Gly2041=) c.7023A>C (p.Gly2341=) c.6945A>C (p.Gly2315=) c.6921A>C (p.Gly2307=) c.6918A>C (p.Gly2306=) | |
X | g.154350947C>A | CA415184913 | FLNA | c.7094G>T (p.Gly2365Val) c.7118G>T (p.Gly2373Val) c.7037G>T (p.Gly2346Val) c.3899G>T (p.Gly1300Val) c.7175G>T (n.7175G>T) c.280-2257G>T c.7397G>T (n.7397G>T) n.2836G>T c.6998G>T (p.Gly2333Val) c.7074G>T (n.7074G>T) n.3646G>T n.67+1870G>T n.159G>T c.6122G>T (p.Gly2041Val) c.7022G>T (p.Gly2341Val) c.6944G>T (p.Gly2315Val) c.6920G>T (p.Gly2307Val) c.6917G>T (p.Gly2306Val) | |
X | g.154350947C>G | CA415184917 | FLNA | c.7094G>C (p.Gly2365Ala) c.7118G>C (p.Gly2373Ala) c.7037G>C (p.Gly2346Ala) c.3899G>C (p.Gly1300Ala) c.7175G>C (n.7175G>C) c.280-2257G>C c.7397G>C (n.7397G>C) n.2836G>C c.6998G>C (p.Gly2333Ala) c.7074G>C (n.7074G>C) n.3646G>C n.67+1870G>C n.159G>C c.6122G>C (p.Gly2041Ala) c.7022G>C (p.Gly2341Ala) c.6944G>C (p.Gly2315Ala) c.6920G>C (p.Gly2307Ala) c.6917G>C (p.Gly2306Ala) | |
X | g.154350947C>T | CA415184919 | FLNA | c.7094G>A (p.Gly2365Glu) c.7118G>A (p.Gly2373Glu) c.7037G>A (p.Gly2346Glu) c.3899G>A (p.Gly1300Glu) c.7175G>A (n.7175G>A) c.280-2257G>A c.7397G>A (n.7397G>A) n.2836G>A c.6998G>A (p.Gly2333Glu) c.7074G>A (n.7074G>A) n.3646G>A n.67+1870G>A n.159G>A c.6122G>A (p.Gly2041Glu) c.7022G>A (p.Gly2341Glu) c.6944G>A (p.Gly2315Glu) c.6920G>A (p.Gly2307Glu) c.6917G>A (p.Gly2306Glu) | |
X | g.154350948C>A | CA415184925 | FLNA | c.7093G>T (p.Gly2365Ter) c.7117G>T (p.Gly2373Ter) c.7036G>T (p.Gly2346Ter) c.3898G>T (p.Gly1300Ter) c.7174G>T (n.7174G>T) c.280-2258G>T c.7396G>T (n.7396G>T) n.2835G>T c.6997G>T (p.Gly2333Ter) c.7073G>T (n.7073G>T) n.3645G>T n.67+1869G>T n.158G>T c.6121G>T (p.Gly2041Ter) c.7021G>T (p.Gly2341Ter) c.6943G>T (p.Gly2315Ter) c.6919G>T (p.Gly2307Ter) c.6916G>T (p.Gly2306Ter) | |
X | g.154350948C>G | CA415184928 | FLNA | c.7093G>C (p.Gly2365Arg) c.7117G>C (p.Gly2373Arg) c.7036G>C (p.Gly2346Arg) c.3898G>C (p.Gly1300Arg) c.7174G>C (n.7174G>C) c.280-2258G>C c.7396G>C (n.7396G>C) n.2835G>C c.6997G>C (p.Gly2333Arg) c.7073G>C (n.7073G>C) n.3645G>C n.67+1869G>C n.158G>C c.6121G>C (p.Gly2041Arg) c.7021G>C (p.Gly2341Arg) c.6943G>C (p.Gly2315Arg) c.6919G>C (p.Gly2307Arg) c.6916G>C (p.Gly2306Arg) | |
X | g.154350948C>T | CA415184932 | FLNA | c.7093G>A (p.Gly2365Arg) c.7117G>A (p.Gly2373Arg) c.7036G>A (p.Gly2346Arg) c.3898G>A (p.Gly1300Arg) c.7174G>A (n.7174G>A) c.280-2258G>A c.7396G>A (n.7396G>A) n.2835G>A c.6997G>A (p.Gly2333Arg) c.7073G>A (n.7073G>A) n.3645G>A n.67+1869G>A n.158G>A c.6121G>A (p.Gly2041Arg) c.7021G>A (p.Gly2341Arg) c.6943G>A (p.Gly2315Arg) c.6919G>A (p.Gly2307Arg) c.6916G>A (p.Gly2306Arg) | |
X | g.154350949T>A | CA519276519 | FLNA | c.7092A>T (p.Ser2364=) c.7116A>T (p.Ser2372=) c.7035A>T (p.Ser2345=) c.3897A>T (p.Ser1299=) c.7173A>T (n.7173A>T) c.280-2259A>T c.7395A>T (n.7395A>T) n.2834A>T c.6996A>T (p.Ser2332=) c.7072A>T (n.7072A>T) n.3644A>T n.67+1868A>T n.157A>T c.6120A>T (p.Ser2040=) c.7020A>T (p.Ser2340=) c.6942A>T (p.Ser2314=) c.6918A>T (p.Ser2306=) c.6915A>T (p.Ser2305=) | |
X | g.154350949T>C | CA519276520 | FLNA | c.7092A>G (p.Ser2364=) c.7116A>G (p.Ser2372=) c.7035A>G (p.Ser2345=) c.3897A>G (p.Ser1299=) c.7173A>G (n.7173A>G) c.280-2259A>G c.7395A>G (n.7395A>G) n.2834A>G c.6996A>G (p.Ser2332=) c.7072A>G (n.7072A>G) n.3644A>G n.67+1868A>G n.157A>G c.6120A>G (p.Ser2040=) c.7020A>G (p.Ser2340=) c.6942A>G (p.Ser2314=) c.6918A>G (p.Ser2306=) c.6915A>G (p.Ser2305=) | |
X | g.154350949T>G | CA10559955 | FLNA | c.7092A>C (p.Ser2364=) c.7116A>C (p.Ser2372=) c.7035A>C (p.Ser2345=) c.3897A>C (p.Ser1299=) c.7173A>C (n.7173A>C) c.280-2259A>C c.7395A>C (n.7395A>C) n.2834A>C c.6996A>C (p.Ser2332=) c.7072A>C (n.7072A>C) n.3644A>C n.67+1868A>C n.157A>C c.6120A>C (p.Ser2040=) c.7020A>C (p.Ser2340=) c.6942A>C (p.Ser2314=) c.6918A>C (p.Ser2306=) c.6915A>C (p.Ser2305=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.154350949T= | CA2466652370 | FLNA | c.7092A= (p.Ser2364=) c.7116A= (p.Ser2372=) c.7035A= (p.Ser2345=) c.3897A= (p.Ser1299=) c.7173A= (n.7173A=) c.280-2259A= c.7395A= (n.7395A=) n.2834A= c.6996A= (p.Ser2332=) c.7072A= (n.7072A=) n.3644A= n.67+1868A= n.157A= c.6120A= (p.Ser2040=) c.7020A= (p.Ser2340=) c.6942A= (p.Ser2314=) c.6918A= (p.Ser2306=) c.6915A= (p.Ser2305=) | |
X | g.154350950G>A | CA415184936 | FLNA | c.7091C>T (p.Ser2364Leu) c.7115C>T (p.Ser2372Leu) c.7034C>T (p.Ser2345Leu) c.3896C>T (p.Ser1299Leu) c.7172C>T (n.7172C>T) c.280-2260C>T c.7394C>T (n.7394C>T) n.2833C>T c.6995C>T (p.Ser2332Leu) c.7071C>T (n.7071C>T) n.3643C>T n.67+1867C>T n.156C>T c.6119C>T (p.Ser2040Leu) c.7019C>T (p.Ser2340Leu) c.6941C>T (p.Ser2314Leu) c.6917C>T (p.Ser2306Leu) c.6914C>T (p.Ser2305Leu) | |
X | g.154350950G>C | CA415184938 | FLNA | c.7091C>G (p.Ser2364Ter) c.7115C>G (p.Ser2372Ter) c.7034C>G (p.Ser2345Ter) c.3896C>G (p.Ser1299Ter) c.7172C>G (n.7172C>G) c.280-2260C>G c.7394C>G (n.7394C>G) n.2833C>G c.6995C>G (p.Ser2332Ter) c.7071C>G (n.7071C>G) n.3643C>G n.67+1867C>G n.156C>G c.6119C>G (p.Ser2040Ter) c.7019C>G (p.Ser2340Ter) c.6941C>G (p.Ser2314Ter) c.6917C>G (p.Ser2306Ter) c.6914C>G (p.Ser2305Ter) | |
X | g.154350950G>T | CA415184940 | FLNA | c.7091C>A (p.Ser2364Ter) c.7115C>A (p.Ser2372Ter) c.7034C>A (p.Ser2345Ter) c.3896C>A (p.Ser1299Ter) c.7172C>A (n.7172C>A) c.280-2260C>A c.7394C>A (n.7394C>A) n.2833C>A c.6995C>A (p.Ser2332Ter) c.7071C>A (n.7071C>A) n.3643C>A n.67+1867C>A n.156C>A c.6119C>A (p.Ser2040Ter) c.7019C>A (p.Ser2340Ter) c.6941C>A (p.Ser2314Ter) c.6917C>A (p.Ser2306Ter) c.6914C>A (p.Ser2305Ter) | |
X | g.154350951A>C | CA415184942 | FLNA | c.7090T>G (p.Ser2364Ala) c.7114T>G (p.Ser2372Ala) c.7033T>G (p.Ser2345Ala) c.3895T>G (p.Ser1299Ala) c.7171T>G (n.7171T>G) c.280-2261T>G c.7393T>G (n.7393T>G) n.2832T>G c.6994T>G (p.Ser2332Ala) c.7070T>G (n.7070T>G) n.3642T>G n.67+1866T>G n.155T>G c.6118T>G (p.Ser2040Ala) c.7018T>G (p.Ser2340Ala) c.6940T>G (p.Ser2314Ala) c.6916T>G (p.Ser2306Ala) c.6913T>G (p.Ser2305Ala) | |
X | g.154350951A>G | CA415184944 | FLNA | c.7090T>C (p.Ser2364Pro) c.7114T>C (p.Ser2372Pro) c.7033T>C (p.Ser2345Pro) c.3895T>C (p.Ser1299Pro) c.7171T>C (n.7171T>C) c.280-2261T>C c.7393T>C (n.7393T>C) n.2832T>C c.6994T>C (p.Ser2332Pro) c.7070T>C (n.7070T>C) n.3642T>C n.67+1866T>C n.155T>C c.6118T>C (p.Ser2040Pro) c.7018T>C (p.Ser2340Pro) c.6940T>C (p.Ser2314Pro) c.6916T>C (p.Ser2306Pro) c.6913T>C (p.Ser2305Pro) | |
X | g.154350951A>T | CA415184946 | FLNA | c.7090T>A (p.Ser2364Thr) c.7114T>A (p.Ser2372Thr) c.7033T>A (p.Ser2345Thr) c.3895T>A (p.Ser1299Thr) c.7171T>A (n.7171T>A) c.280-2261T>A c.7393T>A (n.7393T>A) n.2832T>A c.6994T>A (p.Ser2332Thr) c.7070T>A (n.7070T>A) n.3642T>A n.67+1866T>A n.155T>A c.6118T>A (p.Ser2040Thr) c.7018T>A (p.Ser2340Thr) c.6940T>A (p.Ser2314Thr) c.6916T>A (p.Ser2306Thr) c.6913T>A (p.Ser2305Thr) | |
X | g.154350952G>A | CA519276521 | FLNA | c.7089C>T (p.Pro2363=) c.7113C>T (p.Pro2371=) c.7032C>T (p.Pro2344=) c.3894C>T (p.Pro1298=) c.7170C>T (n.7170C>T) c.280-2262C>T c.7392C>T (n.7392C>T) n.2831C>T c.6993C>T (p.Pro2331=) c.7069C>T (n.7069C>T) n.3641C>T n.67+1865C>T n.154C>T c.6117C>T (p.Pro2039=) c.7017C>T (p.Pro2339=) c.6939C>T (p.Pro2313=) c.6915C>T (p.Pro2305=) c.6912C>T (p.Pro2304=) | gnomAD v4 |
X | g.154350952G>C | CA519276522 | FLNA | c.7089C>G (p.Pro2363=) c.7113C>G (p.Pro2371=) c.7032C>G (p.Pro2344=) c.3894C>G (p.Pro1298=) c.7170C>G (n.7170C>G) c.280-2262C>G c.7392C>G (n.7392C>G) n.2831C>G c.6993C>G (p.Pro2331=) c.7069C>G (n.7069C>G) n.3641C>G n.67+1865C>G n.154C>G c.6117C>G (p.Pro2039=) c.7017C>G (p.Pro2339=) c.6939C>G (p.Pro2313=) c.6915C>G (p.Pro2305=) c.6912C>G (p.Pro2304=) | |
X | g.154350952G>T | CA519276523 | FLNA | c.7089C>A (p.Pro2363=) c.7113C>A (p.Pro2371=) c.7032C>A (p.Pro2344=) c.3894C>A (p.Pro1298=) c.7170C>A (n.7170C>A) c.280-2262C>A c.7392C>A (n.7392C>A) n.2831C>A c.6993C>A (p.Pro2331=) c.7069C>A (n.7069C>A) n.3641C>A n.67+1865C>A n.154C>A c.6117C>A (p.Pro2039=) c.7017C>A (p.Pro2339=) c.6939C>A (p.Pro2313=) c.6915C>A (p.Pro2305=) c.6912C>A (p.Pro2304=) | |
X | g.154350953G>A | CA415184947 | FLNA | c.7088C>T (p.Pro2363Leu) c.7112C>T (p.Pro2371Leu) c.7031C>T (p.Pro2344Leu) c.3893C>T (p.Pro1298Leu) c.7169C>T (n.7169C>T) c.280-2263C>T c.7391C>T (n.7391C>T) n.2830C>T c.6992C>T (p.Pro2331Leu) c.7068C>T (n.7068C>T) n.3640C>T n.67+1864C>T n.153C>T c.6116C>T (p.Pro2039Leu) c.7016C>T (p.Pro2339Leu) c.6938C>T (p.Pro2313Leu) c.6914C>T (p.Pro2305Leu) c.6911C>T (p.Pro2304Leu) | gnomAD v4 COSMIC COSMIC |
X | g.154350953G>C | CA415184950 | FLNA | c.7088C>G (p.Pro2363Arg) c.7112C>G (p.Pro2371Arg) c.7031C>G (p.Pro2344Arg) c.3893C>G (p.Pro1298Arg) c.7169C>G (n.7169C>G) c.280-2263C>G c.7391C>G (n.7391C>G) n.2830C>G c.6992C>G (p.Pro2331Arg) c.7068C>G (n.7068C>G) n.3640C>G n.67+1864C>G n.153C>G c.6116C>G (p.Pro2039Arg) c.7016C>G (p.Pro2339Arg) c.6938C>G (p.Pro2313Arg) c.6914C>G (p.Pro2305Arg) c.6911C>G (p.Pro2304Arg) | |
X | g.154350953G>T | CA415184948 | FLNA | c.7088C>A (p.Pro2363His) c.7112C>A (p.Pro2371His) c.7031C>A (p.Pro2344His) c.3893C>A (p.Pro1298His) c.7169C>A (n.7169C>A) c.280-2263C>A c.7391C>A (n.7391C>A) n.2830C>A c.6992C>A (p.Pro2331His) c.7068C>A (n.7068C>A) n.3640C>A n.67+1864C>A n.153C>A c.6116C>A (p.Pro2039His) c.7016C>A (p.Pro2339His) c.6938C>A (p.Pro2313His) c.6914C>A (p.Pro2305His) c.6911C>A (p.Pro2304His) | |
X | g.154350954G>A | CA415184951 | FLNA | c.7087C>T (p.Pro2363Ser) c.7111C>T (p.Pro2371Ser) c.7030C>T (p.Pro2344Ser) c.3892C>T (p.Pro1298Ser) c.7168C>T (n.7168C>T) c.280-2264C>T c.7390C>T (n.7390C>T) n.2829C>T c.6991C>T (p.Pro2331Ser) c.7067C>T (n.7067C>T) n.3639C>T n.67+1863C>T n.152C>T c.6115C>T (p.Pro2039Ser) c.7015C>T (p.Pro2339Ser) c.6937C>T (p.Pro2313Ser) c.6913C>T (p.Pro2305Ser) c.6910C>T (p.Pro2304Ser) | |
X | g.154350954G>C | CA415184956 | FLNA | c.7087C>G (p.Pro2363Ala) c.7111C>G (p.Pro2371Ala) c.7030C>G (p.Pro2344Ala) c.3892C>G (p.Pro1298Ala) c.7168C>G (n.7168C>G) c.280-2264C>G c.7390C>G (n.7390C>G) n.2829C>G c.6991C>G (p.Pro2331Ala) c.7067C>G (n.7067C>G) n.3639C>G n.67+1863C>G n.152C>G c.6115C>G (p.Pro2039Ala) c.7015C>G (p.Pro2339Ala) c.6937C>G (p.Pro2313Ala) c.6913C>G (p.Pro2305Ala) c.6910C>G (p.Pro2304Ala) | |
X | g.154350954G>T | CA415184954 | FLNA | c.7087C>A (p.Pro2363Thr) c.7111C>A (p.Pro2371Thr) c.7030C>A (p.Pro2344Thr) c.3892C>A (p.Pro1298Thr) c.7168C>A (n.7168C>A) c.280-2264C>A c.7390C>A (n.7390C>A) n.2829C>A c.6991C>A (p.Pro2331Thr) c.7067C>A (n.7067C>A) n.3639C>A n.67+1863C>A n.152C>A c.6115C>A (p.Pro2039Thr) c.7015C>A (p.Pro2339Thr) c.6937C>A (p.Pro2313Thr) c.6913C>A (p.Pro2305Thr) c.6910C>A (p.Pro2304Thr) | |
X | g.154350955G>A | CA519276524 | FLNA | c.7086C>T (p.Ser2362=) c.7110C>T (p.Ser2370=) c.7029C>T (p.Ser2343=) c.3891C>T (p.Ser1297=) c.7167C>T (n.7167C>T) c.280-2265C>T c.7389C>T (n.7389C>T) n.2828C>T c.6990C>T (p.Ser2330=) c.7066C>T (n.7066C>T) n.3638C>T n.67+1862C>T n.151C>T c.6114C>T (p.Ser2038=) c.7014C>T (p.Ser2338=) c.6936C>T (p.Ser2312=) c.6912C>T (p.Ser2304=) c.6909C>T (p.Ser2303=) | |
X | g.154350955G>C | CA415184958 | FLNA | c.7086C>G (p.Ser2362Arg) c.7110C>G (p.Ser2370Arg) c.7029C>G (p.Ser2343Arg) c.3891C>G (p.Ser1297Arg) c.7167C>G (n.7167C>G) c.280-2265C>G c.7389C>G (n.7389C>G) n.2828C>G c.6990C>G (p.Ser2330Arg) c.7066C>G (n.7066C>G) n.3638C>G n.67+1862C>G n.151C>G c.6114C>G (p.Ser2038Arg) c.7014C>G (p.Ser2338Arg) c.6936C>G (p.Ser2312Arg) c.6912C>G (p.Ser2304Arg) c.6909C>G (p.Ser2303Arg) | |
X | g.154350955G>T | CA415184961 | FLNA | c.7086C>A (p.Ser2362Arg) c.7110C>A (p.Ser2370Arg) c.7029C>A (p.Ser2343Arg) c.3891C>A (p.Ser1297Arg) c.7167C>A (n.7167C>A) c.280-2265C>A c.7389C>A (n.7389C>A) n.2828C>A c.6990C>A (p.Ser2330Arg) c.7066C>A (n.7066C>A) n.3638C>A n.67+1862C>A n.151C>A c.6114C>A (p.Ser2038Arg) c.7014C>A (p.Ser2338Arg) c.6936C>A (p.Ser2312Arg) c.6912C>A (p.Ser2304Arg) c.6909C>A (p.Ser2303Arg) | gnomAD v4 |
X | g.154350956C>A | CA415184963 | FLNA | c.7085G>T (p.Ser2362Ile) c.7109G>T (p.Ser2370Ile) c.7028G>T (p.Ser2343Ile) c.3890G>T (p.Ser1297Ile) c.7166G>T (n.7166G>T) c.280-2266G>T c.7388G>T (n.7388G>T) n.2827G>T c.6989G>T (p.Ser2330Ile) c.7065G>T (n.7065G>T) n.3637G>T n.67+1861G>T n.150G>T c.6113G>T (p.Ser2038Ile) c.7013G>T (p.Ser2338Ile) c.6935G>T (p.Ser2312Ile) c.6911G>T (p.Ser2304Ile) c.6908G>T (p.Ser2303Ile) | |
X | g.154350956C>G | CA415184967 | FLNA | c.7085G>C (p.Ser2362Thr) c.7109G>C (p.Ser2370Thr) c.7028G>C (p.Ser2343Thr) c.3890G>C (p.Ser1297Thr) c.7166G>C (n.7166G>C) c.280-2266G>C c.7388G>C (n.7388G>C) n.2827G>C c.6989G>C (p.Ser2330Thr) c.7065G>C (n.7065G>C) n.3637G>C n.67+1861G>C n.150G>C c.6113G>C (p.Ser2038Thr) c.7013G>C (p.Ser2338Thr) c.6935G>C (p.Ser2312Thr) c.6911G>C (p.Ser2304Thr) c.6908G>C (p.Ser2303Thr) | |
X | g.154350956C>T | CA415184965 | FLNA | c.7085G>A (p.Ser2362Asn) c.7109G>A (p.Ser2370Asn) c.7028G>A (p.Ser2343Asn) c.3890G>A (p.Ser1297Asn) c.7166G>A (n.7166G>A) c.280-2266G>A c.7388G>A (n.7388G>A) n.2827G>A c.6989G>A (p.Ser2330Asn) c.7065G>A (n.7065G>A) n.3637G>A n.67+1861G>A n.150G>A c.6113G>A (p.Ser2038Asn) c.7013G>A (p.Ser2338Asn) c.6935G>A (p.Ser2312Asn) c.6911G>A (p.Ser2304Asn) c.6908G>A (p.Ser2303Asn) | gnomAD v4 COSMIC COSMIC |
X | g.154350957T>A | CA415184970 | FLNA | c.7084A>T (p.Ser2362Cys) c.7108A>T (p.Ser2370Cys) c.7027A>T (p.Ser2343Cys) c.3889A>T (p.Ser1297Cys) c.7165A>T (n.7165A>T) c.280-2267A>T c.7387A>T (n.7387A>T) n.2826A>T c.6988A>T (p.Ser2330Cys) c.7064A>T (n.7064A>T) n.3636A>T n.67+1860A>T n.149A>T c.6112A>T (p.Ser2038Cys) c.7012A>T (p.Ser2338Cys) c.6934A>T (p.Ser2312Cys) c.6910A>T (p.Ser2304Cys) c.6907A>T (p.Ser2303Cys) | |
X | g.154350957T>C | CA415184975 | FLNA | c.7084A>G (p.Ser2362Gly) c.7108A>G (p.Ser2370Gly) c.7027A>G (p.Ser2343Gly) c.3889A>G (p.Ser1297Gly) c.7165A>G (n.7165A>G) c.280-2267A>G c.7387A>G (n.7387A>G) n.2826A>G c.6988A>G (p.Ser2330Gly) c.7064A>G (n.7064A>G) n.3636A>G n.67+1860A>G n.149A>G c.6112A>G (p.Ser2038Gly) c.7012A>G (p.Ser2338Gly) c.6934A>G (p.Ser2312Gly) c.6910A>G (p.Ser2304Gly) c.6907A>G (p.Ser2303Gly) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.154350957T>G | CA415184976 | FLNA | c.7084A>C (p.Ser2362Arg) c.7108A>C (p.Ser2370Arg) c.7027A>C (p.Ser2343Arg) c.3889A>C (p.Ser1297Arg) c.7165A>C (n.7165A>C) c.280-2267A>C c.7387A>C (n.7387A>C) n.2826A>C c.6988A>C (p.Ser2330Arg) c.7064A>C (n.7064A>C) n.3636A>C n.67+1860A>C n.149A>C c.6112A>C (p.Ser2038Arg) c.7012A>C (p.Ser2338Arg) c.6934A>C (p.Ser2312Arg) c.6910A>C (p.Ser2304Arg) c.6907A>C (p.Ser2303Arg) | |
X | g.154350957T= | CA2466652371 | FLNA | c.7084A= (p.Ser2362=) c.7108A= (p.Ser2370=) c.7027A= (p.Ser2343=) c.3889A= (p.Ser1297=) c.7165A= (n.7165A=) c.280-2267A= c.7387A= (n.7387A=) n.2826A= c.6988A= (p.Ser2330=) c.7064A= (n.7064A=) n.3636A= n.67+1860A= n.149A= c.6112A= (p.Ser2038=) c.7012A= (p.Ser2338=) c.6934A= (p.Ser2312=) c.6910A= (p.Ser2304=) c.6907A= (p.Ser2303=) | |
X | g.154350958G>A | CA519276525 | FLNA | c.7083C>T (p.His2361=) c.7107C>T (p.His2369=) c.7026C>T (p.His2342=) c.3888C>T (p.His1296=) c.7164C>T (n.7164C>T) c.280-2268C>T c.7386C>T (n.7386C>T) n.2825C>T c.6987C>T (p.His2329=) c.7063C>T (n.7063C>T) n.3635C>T n.67+1859C>T n.148C>T c.6111C>T (p.His2037=) c.7011C>T (p.His2337=) c.6933C>T (p.His2311=) c.6909C>T (p.His2303=) c.6906C>T (p.His2302=) | |
X | g.154350958G>C | CA415184980 | FLNA | c.7083C>G (p.His2361Gln) c.7107C>G (p.His2369Gln) c.7026C>G (p.His2342Gln) c.3888C>G (p.His1296Gln) c.7164C>G (n.7164C>G) c.280-2268C>G c.7386C>G (n.7386C>G) n.2825C>G c.6987C>G (p.His2329Gln) c.7063C>G (n.7063C>G) n.3635C>G n.67+1859C>G n.148C>G c.6111C>G (p.His2037Gln) c.7011C>G (p.His2337Gln) c.6933C>G (p.His2311Gln) c.6909C>G (p.His2303Gln) c.6906C>G (p.His2302Gln) | |
X | g.154350958G>T | CA415184981 | FLNA | c.7083C>A (p.His2361Gln) c.7107C>A (p.His2369Gln) c.7026C>A (p.His2342Gln) c.3888C>A (p.His1296Gln) c.7164C>A (n.7164C>A) c.280-2268C>A c.7386C>A (n.7386C>A) n.2825C>A c.6987C>A (p.His2329Gln) c.7063C>A (n.7063C>A) n.3635C>A n.67+1859C>A n.148C>A c.6111C>A (p.His2037Gln) c.7011C>A (p.His2337Gln) c.6933C>A (p.His2311Gln) c.6909C>A (p.His2303Gln) c.6906C>A (p.His2302Gln) | |
X | g.154350959T>A | CA415184984 | FLNA | c.7082A>T (p.His2361Leu) c.7106A>T (p.His2369Leu) c.7025A>T (p.His2342Leu) c.3887A>T (p.His1296Leu) c.7163A>T (n.7163A>T) c.280-2269A>T c.7385A>T (n.7385A>T) n.2824A>T c.6986A>T (p.His2329Leu) c.7062A>T (n.7062A>T) n.3634A>T n.67+1858A>T n.147A>T c.6110A>T (p.His2037Leu) c.7010A>T (p.His2337Leu) c.6932A>T (p.His2311Leu) c.6908A>T (p.His2303Leu) c.6905A>T (p.His2302Leu) | |
X | g.154350959T>C | CA415184986 | FLNA | c.7082A>G (p.His2361Arg) c.7106A>G (p.His2369Arg) c.7025A>G (p.His2342Arg) c.3887A>G (p.His1296Arg) c.7163A>G (n.7163A>G) c.280-2269A>G c.7385A>G (n.7385A>G) n.2824A>G c.6986A>G (p.His2329Arg) c.7062A>G (n.7062A>G) n.3634A>G n.67+1858A>G n.147A>G c.6110A>G (p.His2037Arg) c.7010A>G (p.His2337Arg) c.6932A>G (p.His2311Arg) c.6908A>G (p.His2303Arg) c.6905A>G (p.His2302Arg) | |
X | g.154350959T>G | CA415184988 | FLNA | c.7082A>C (p.His2361Pro) c.7106A>C (p.His2369Pro) c.7025A>C (p.His2342Pro) c.3887A>C (p.His1296Pro) c.7163A>C (n.7163A>C) c.280-2269A>C c.7385A>C (n.7385A>C) n.2824A>C c.6986A>C (p.His2329Pro) c.7062A>C (n.7062A>C) n.3634A>C n.67+1858A>C n.147A>C c.6110A>C (p.His2037Pro) c.7010A>C (p.His2337Pro) c.6932A>C (p.His2311Pro) c.6908A>C (p.His2303Pro) c.6905A>C (p.His2302Pro) | |
X | g.154350960G>A | CA415184990 | FLNA | c.7081C>T (p.His2361Tyr) c.7105C>T (p.His2369Tyr) c.7024C>T (p.His2342Tyr) c.3886C>T (p.His1296Tyr) c.7162C>T (n.7162C>T) c.280-2270C>T c.7384C>T (n.7384C>T) n.2823C>T c.6985C>T (p.His2329Tyr) c.7061C>T (n.7061C>T) n.3633C>T n.67+1857C>T n.146C>T c.6109C>T (p.His2037Tyr) c.7009C>T (p.His2337Tyr) c.6931C>T (p.His2311Tyr) c.6907C>T (p.His2303Tyr) c.6904C>T (p.His2302Tyr) | |
X | g.154350960G>C | CA415184991 | FLNA | c.7081C>G (p.His2361Asp) c.7105C>G (p.His2369Asp) c.7024C>G (p.His2342Asp) c.3886C>G (p.His1296Asp) c.7162C>G (n.7162C>G) c.280-2270C>G c.7384C>G (n.7384C>G) n.2823C>G c.6985C>G (p.His2329Asp) c.7061C>G (n.7061C>G) n.3633C>G n.67+1857C>G n.146C>G c.6109C>G (p.His2037Asp) c.7009C>G (p.His2337Asp) c.6931C>G (p.His2311Asp) c.6907C>G (p.His2303Asp) c.6904C>G (p.His2302Asp) | |
X | g.154350960G>T | CA415184993 | FLNA | c.7081C>A (p.His2361Asn) c.7105C>A (p.His2369Asn) c.7024C>A (p.His2342Asn) c.3886C>A (p.His1296Asn) c.7162C>A (n.7162C>A) c.280-2270C>A c.7384C>A (n.7384C>A) n.2823C>A c.6985C>A (p.His2329Asn) c.7061C>A (n.7061C>A) n.3633C>A n.67+1857C>A n.146C>A c.6109C>A (p.His2037Asn) c.7009C>A (p.His2337Asn) c.6931C>A (p.His2311Asn) c.6907C>A (p.His2303Asn) c.6904C>A (p.His2302Asn) | |
X | g.154350961C>A | CA519276526 | FLNA | c.7080G>T (p.Val2360=) c.7104G>T (p.Val2368=) c.7023G>T (p.Val2341=) c.3885G>T (p.Val1295=) c.7161G>T (n.7161G>T) c.280-2271G>T c.7383G>T (n.7383G>T) n.2822G>T c.6984G>T (p.Val2328=) c.7060G>T (n.7060G>T) n.3632G>T n.67+1856G>T n.145G>T c.6108G>T (p.Val2036=) c.7008G>T (p.Val2336=) c.6930G>T (p.Val2310=) c.6906G>T (p.Val2302=) c.6903G>T (p.Val2301=) | |
X | g.154350961C>G | CA519276527 | FLNA | c.7080G>C (p.Val2360=) c.7104G>C (p.Val2368=) c.7023G>C (p.Val2341=) c.3885G>C (p.Val1295=) c.7161G>C (n.7161G>C) c.280-2271G>C c.7383G>C (n.7383G>C) n.2822G>C c.6984G>C (p.Val2328=) c.7060G>C (n.7060G>C) n.3632G>C n.67+1856G>C n.145G>C c.6108G>C (p.Val2036=) c.7008G>C (p.Val2336=) c.6930G>C (p.Val2310=) c.6906G>C (p.Val2302=) c.6903G>C (p.Val2301=) | |
X | g.154350961C>T | CA519276528 | FLNA | c.7080G>A (p.Val2360=) c.7104G>A (p.Val2368=) c.7023G>A (p.Val2341=) c.3885G>A (p.Val1295=) c.7161G>A (n.7161G>A) c.280-2271G>A c.7383G>A (n.7383G>A) n.2822G>A c.6984G>A (p.Val2328=) c.7060G>A (n.7060G>A) n.3632G>A n.67+1856G>A n.145G>A c.6108G>A (p.Val2036=) c.7008G>A (p.Val2336=) c.6930G>A (p.Val2310=) c.6906G>A (p.Val2302=) c.6903G>A (p.Val2301=) | |
X | g.154350962A= | CA2466652372 | FLNA | c.7079T= (p.Val2360=) c.7103T= (p.Val2368=) c.7022T= (p.Val2341=) c.3884T= (p.Val1295=) c.7160T= (n.7160T=) c.280-2272T= c.7382T= (n.7382T=) n.2821T= c.6983T= (p.Val2328=) c.7059T= (n.7059T=) n.3631T= n.67+1855T= n.144T= c.6107T= (p.Val2036=) c.7007T= (p.Val2336=) c.6929T= (p.Val2310=) c.6905T= (p.Val2302=) c.6902T= (p.Val2301=) | |
X | g.154350962A>C | CA415184995 | FLNA | c.7079T>G (p.Val2360Gly) c.7103T>G (p.Val2368Gly) c.7022T>G (p.Val2341Gly) c.3884T>G (p.Val1295Gly) c.7160T>G (n.7160T>G) c.280-2272T>G c.7382T>G (n.7382T>G) n.2821T>G c.6983T>G (p.Val2328Gly) c.7059T>G (n.7059T>G) n.3631T>G n.67+1855T>G n.144T>G c.6107T>G (p.Val2036Gly) c.7007T>G (p.Val2336Gly) c.6929T>G (p.Val2310Gly) c.6905T>G (p.Val2302Gly) c.6902T>G (p.Val2301Gly) | |
X | g.154350962A>G | CA415184998 | FLNA | c.7079T>C (p.Val2360Ala) c.7103T>C (p.Val2368Ala) c.7022T>C (p.Val2341Ala) c.3884T>C (p.Val1295Ala) c.7160T>C (n.7160T>C) c.280-2272T>C c.7382T>C (n.7382T>C) n.2821T>C c.6983T>C (p.Val2328Ala) c.7059T>C (n.7059T>C) n.3631T>C n.67+1855T>C n.144T>C c.6107T>C (p.Val2036Ala) c.7007T>C (p.Val2336Ala) c.6929T>C (p.Val2310Ala) c.6905T>C (p.Val2302Ala) c.6902T>C (p.Val2301Ala) | ClinVar dbSNP |
X | g.154350962A>T | CA415184997 | FLNA | c.7079T>A (p.Val2360Glu) c.7103T>A (p.Val2368Glu) c.7022T>A (p.Val2341Glu) c.3884T>A (p.Val1295Glu) c.7160T>A (n.7160T>A) c.280-2272T>A c.7382T>A (n.7382T>A) n.2821T>A c.6983T>A (p.Val2328Glu) c.7059T>A (n.7059T>A) n.3631T>A n.67+1855T>A n.144T>A c.6107T>A (p.Val2036Glu) c.7007T>A (p.Val2336Glu) c.6929T>A (p.Val2310Glu) c.6905T>A (p.Val2302Glu) c.6902T>A (p.Val2301Glu) | |
X | g.154350963C>A | CA415185001 | FLNA | c.7078G>T (p.Val2360Leu) c.7102G>T (p.Val2368Leu) c.7021G>T (p.Val2341Leu) c.3883G>T (p.Val1295Leu) c.7159G>T (n.7159G>T) c.280-2273G>T c.7381G>T (n.7381G>T) n.2820G>T c.6982G>T (p.Val2328Leu) c.7058G>T (n.7058G>T) n.3630G>T n.67+1854G>T n.143G>T c.6106G>T (p.Val2036Leu) c.7006G>T (p.Val2336Leu) c.6928G>T (p.Val2310Leu) c.6904G>T (p.Val2302Leu) c.6901G>T (p.Val2301Leu) | |
X | g.154350963C= | CA2466652373 | FLNA | c.7078G= (p.Val2360=) c.7102G= (p.Val2368=) c.7021G= (p.Val2341=) c.3883G= (p.Val1295=) c.7159G= (n.7159G=) c.280-2273G= c.7381G= (n.7381G=) n.2820G= c.6982G= (p.Val2328=) c.7058G= (n.7058G=) n.3630G= n.67+1854G= n.143G= c.6106G= (p.Val2036=) c.7006G= (p.Val2336=) c.6928G= (p.Val2310=) c.6904G= (p.Val2302=) c.6901G= (p.Val2301=) | |
X | g.154350963C>G | CA415185003 | FLNA | c.7078G>C (p.Val2360Leu) c.7102G>C (p.Val2368Leu) c.7021G>C (p.Val2341Leu) c.3883G>C (p.Val1295Leu) c.7159G>C (n.7159G>C) c.280-2273G>C c.7381G>C (n.7381G>C) n.2820G>C c.6982G>C (p.Val2328Leu) c.7058G>C (n.7058G>C) n.3630G>C n.67+1854G>C n.143G>C c.6106G>C (p.Val2036Leu) c.7006G>C (p.Val2336Leu) c.6928G>C (p.Val2310Leu) c.6904G>C (p.Val2302Leu) c.6901G>C (p.Val2301Leu) | |
X | g.154350963C>T | CA337273536 | FLNA | c.7078G>A (p.Val2360Met) c.7102G>A (p.Val2368Met) c.7021G>A (p.Val2341Met) c.3883G>A (p.Val1295Met) c.7159G>A (n.7159G>A) c.280-2273G>A c.7381G>A (n.7381G>A) n.2820G>A c.6982G>A (p.Val2328Met) c.7058G>A (n.7058G>A) n.3630G>A n.67+1854G>A n.143G>A c.6106G>A (p.Val2036Met) c.7006G>A (p.Val2336Met) c.6928G>A (p.Val2310Met) c.6904G>A (p.Val2302Met) c.6901G>A (p.Val2301Met) | dbSNP gnomAD v4 |
X | g.154350964C>A | CA415185006 | FLNA | c.7077G>T (p.Lys2359Asn) c.7101G>T (p.Lys2367Asn) c.7020G>T (p.Lys2340Asn) c.3882G>T (p.Lys1294Asn) c.7158G>T (n.7158G>T) c.280-2274G>T c.7380G>T (n.7380G>T) n.2819G>T c.6981G>T (p.Lys2327Asn) c.7057G>T (n.7057G>T) n.3629G>T n.67+1853G>T n.142G>T c.6105G>T (p.Lys2035Asn) c.7005G>T (p.Lys2335Asn) c.6927G>T (p.Lys2309Asn) c.6903G>T (p.Lys2301Asn) c.6900G>T (p.Lys2300Asn) | |
X | g.154350964C>G | CA415185008 | FLNA | c.7077G>C (p.Lys2359Asn) c.7101G>C (p.Lys2367Asn) c.7020G>C (p.Lys2340Asn) c.3882G>C (p.Lys1294Asn) c.7158G>C (n.7158G>C) c.280-2274G>C c.7380G>C (n.7380G>C) n.2819G>C c.6981G>C (p.Lys2327Asn) c.7057G>C (n.7057G>C) n.3629G>C n.67+1853G>C n.142G>C c.6105G>C (p.Lys2035Asn) c.7005G>C (p.Lys2335Asn) c.6927G>C (p.Lys2309Asn) c.6903G>C (p.Lys2301Asn) c.6900G>C (p.Lys2300Asn) | |
X | g.154350964C>T | CA519276529 | FLNA | c.7077G>A (p.Lys2359=) c.7101G>A (p.Lys2367=) c.7020G>A (p.Lys2340=) c.3882G>A (p.Lys1294=) c.7158G>A (n.7158G>A) c.280-2274G>A c.7380G>A (n.7380G>A) n.2819G>A c.6981G>A (p.Lys2327=) c.7057G>A (n.7057G>A) n.3629G>A n.67+1853G>A n.142G>A c.6105G>A (p.Lys2035=) c.7005G>A (p.Lys2335=) c.6927G>A (p.Lys2309=) c.6903G>A (p.Lys2301=) c.6900G>A (p.Lys2300=) | ClinVar |
X | g.154350965T>A | CA415185010 | FLNA | c.7076A>T (p.Lys2359Met) c.7100A>T (p.Lys2367Met) c.7019A>T (p.Lys2340Met) c.3881A>T (p.Lys1294Met) c.7157A>T (n.7157A>T) c.280-2275A>T c.7379A>T (n.7379A>T) n.2818A>T c.6980A>T (p.Lys2327Met) c.7056A>T (n.7056A>T) n.3628A>T n.67+1852A>T n.141A>T c.6104A>T (p.Lys2035Met) c.7004A>T (p.Lys2335Met) c.6926A>T (p.Lys2309Met) c.6902A>T (p.Lys2301Met) c.6899A>T (p.Lys2300Met) | |
X | g.154350965T>C | CA415185013 | FLNA | c.7076A>G (p.Lys2359Arg) c.7100A>G (p.Lys2367Arg) c.7019A>G (p.Lys2340Arg) c.3881A>G (p.Lys1294Arg) c.7157A>G (n.7157A>G) c.280-2275A>G c.7379A>G (n.7379A>G) n.2818A>G c.6980A>G (p.Lys2327Arg) c.7056A>G (n.7056A>G) n.3628A>G n.67+1852A>G n.141A>G c.6104A>G (p.Lys2035Arg) c.7004A>G (p.Lys2335Arg) c.6926A>G (p.Lys2309Arg) c.6902A>G (p.Lys2301Arg) c.6899A>G (p.Lys2300Arg) | |
X | g.154350965T>G | CA415185014 | FLNA | c.7076A>C (p.Lys2359Thr) c.7100A>C (p.Lys2367Thr) c.7019A>C (p.Lys2340Thr) c.3881A>C (p.Lys1294Thr) c.7157A>C (n.7157A>C) c.280-2275A>C c.7379A>C (n.7379A>C) n.2818A>C c.6980A>C (p.Lys2327Thr) c.7056A>C (n.7056A>C) n.3628A>C n.67+1852A>C n.141A>C c.6104A>C (p.Lys2035Thr) c.7004A>C (p.Lys2335Thr) c.6926A>C (p.Lys2309Thr) c.6902A>C (p.Lys2301Thr) c.6899A>C (p.Lys2300Thr) | |
X | g.154350966T>A | CA415185021 | FLNA | c.7075A>T (p.Lys2359Ter) c.7099A>T (p.Lys2367Ter) c.7018A>T (p.Lys2340Ter) c.3880A>T (p.Lys1294Ter) c.7156A>T (n.7156A>T) c.280-2276A>T c.7378A>T (n.7378A>T) n.2817A>T c.6979A>T (p.Lys2327Ter) c.7055A>T (n.7055A>T) n.3627A>T n.67+1851A>T n.140A>T c.6103A>T (p.Lys2035Ter) c.7003A>T (p.Lys2335Ter) c.6925A>T (p.Lys2309Ter) c.6901A>T (p.Lys2301Ter) c.6898A>T (p.Lys2300Ter) | |
X | g.154350966T>C | CA415185018 | FLNA | c.7075A>G (p.Lys2359Glu) c.7099A>G (p.Lys2367Glu) c.7018A>G (p.Lys2340Glu) c.3880A>G (p.Lys1294Glu) c.7156A>G (n.7156A>G) c.280-2276A>G c.7378A>G (n.7378A>G) n.2817A>G c.6979A>G (p.Lys2327Glu) c.7055A>G (n.7055A>G) n.3627A>G n.67+1851A>G n.140A>G c.6103A>G (p.Lys2035Glu) c.7003A>G (p.Lys2335Glu) c.6925A>G (p.Lys2309Glu) c.6901A>G (p.Lys2301Glu) c.6898A>G (p.Lys2300Glu) | |
X | g.154350966T>G | CA415185017 | FLNA | c.7075A>C (p.Lys2359Gln) c.7099A>C (p.Lys2367Gln) c.7018A>C (p.Lys2340Gln) c.3880A>C (p.Lys1294Gln) c.7156A>C (n.7156A>C) c.280-2276A>C c.7378A>C (n.7378A>C) n.2817A>C c.6979A>C (p.Lys2327Gln) c.7055A>C (n.7055A>C) n.3627A>C n.67+1851A>C n.140A>C c.6103A>C (p.Lys2035Gln) c.7003A>C (p.Lys2335Gln) c.6925A>C (p.Lys2309Gln) c.6901A>C (p.Lys2301Gln) c.6898A>C (p.Lys2300Gln) | |
X | g.154350967G>A | CA519276530 | FLNA | c.7074C>T (p.Ala2358=) c.7098C>T (p.Ala2366=) c.7017C>T (p.Ala2339=) c.3879C>T (p.Ala1293=) c.7155C>T (n.7155C>T) c.280-2277C>T c.7377C>T (n.7377C>T) n.2816C>T c.6978C>T (p.Ala2326=) c.7054C>T (n.7054C>T) n.3626C>T n.67+1850C>T n.139C>T c.6102C>T (p.Ala2034=) c.7002C>T (p.Ala2334=) c.6924C>T (p.Ala2308=) c.6900C>T (p.Ala2300=) c.6897C>T (p.Ala2299=) | |
X | g.154350967G>C | CA519276531 | FLNA | c.7074C>G (p.Ala2358=) c.7098C>G (p.Ala2366=) c.7017C>G (p.Ala2339=) c.3879C>G (p.Ala1293=) c.7155C>G (n.7155C>G) c.280-2277C>G c.7377C>G (n.7377C>G) n.2816C>G c.6978C>G (p.Ala2326=) c.7054C>G (n.7054C>G) n.3626C>G n.67+1850C>G n.139C>G c.6102C>G (p.Ala2034=) c.7002C>G (p.Ala2334=) c.6924C>G (p.Ala2308=) c.6900C>G (p.Ala2300=) c.6897C>G (p.Ala2299=) | |
X | g.154350967G>T | CA519276532 | FLNA | c.7074C>A (p.Ala2358=) c.7098C>A (p.Ala2366=) c.7017C>A (p.Ala2339=) c.3879C>A (p.Ala1293=) c.7155C>A (n.7155C>A) c.280-2277C>A c.7377C>A (n.7377C>A) n.2816C>A c.6978C>A (p.Ala2326=) c.7054C>A (n.7054C>A) n.3626C>A n.67+1850C>A n.139C>A c.6102C>A (p.Ala2034=) c.7002C>A (p.Ala2334=) c.6924C>A (p.Ala2308=) c.6900C>A (p.Ala2300=) c.6897C>A (p.Ala2299=) | |
X | g.154350968G>A | CA415185023 | FLNA | c.7073C>T (p.Ala2358Val) c.7097C>T (p.Ala2366Val) c.7016C>T (p.Ala2339Val) c.3878C>T (p.Ala1293Val) c.7154C>T (n.7154C>T) c.280-2278C>T c.7376C>T (n.7376C>T) n.2815C>T c.6977C>T (p.Ala2326Val) c.7053C>T (n.7053C>T) n.3625C>T n.67+1849C>T n.138C>T c.6101C>T (p.Ala2034Val) c.7001C>T (p.Ala2334Val) c.6923C>T (p.Ala2308Val) c.6899C>T (p.Ala2300Val) c.6896C>T (p.Ala2299Val) | |
X | g.154350968G>C | CA415185025 | FLNA | c.7073C>G (p.Ala2358Gly) c.7097C>G (p.Ala2366Gly) c.7016C>G (p.Ala2339Gly) c.3878C>G (p.Ala1293Gly) c.7154C>G (n.7154C>G) c.280-2278C>G c.7376C>G (n.7376C>G) n.2815C>G c.6977C>G (p.Ala2326Gly) c.7053C>G (n.7053C>G) n.3625C>G n.67+1849C>G n.138C>G c.6101C>G (p.Ala2034Gly) c.7001C>G (p.Ala2334Gly) c.6923C>G (p.Ala2308Gly) c.6899C>G (p.Ala2300Gly) c.6896C>G (p.Ala2299Gly) | |
X | g.154350968G>T | CA415185027 | FLNA | c.7073C>A (p.Ala2358Asp) c.7097C>A (p.Ala2366Asp) c.7016C>A (p.Ala2339Asp) c.3878C>A (p.Ala1293Asp) c.7154C>A (n.7154C>A) c.280-2278C>A c.7376C>A (n.7376C>A) n.2815C>A c.6977C>A (p.Ala2326Asp) c.7053C>A (n.7053C>A) n.3625C>A n.67+1849C>A n.138C>A c.6101C>A (p.Ala2034Asp) c.7001C>A (p.Ala2334Asp) c.6923C>A (p.Ala2308Asp) c.6899C>A (p.Ala2300Asp) c.6896C>A (p.Ala2299Asp) | |
X | g.154350969C>A | CA415185030 | FLNA | c.7072G>T (p.Ala2358Ser) c.7096G>T (p.Ala2366Ser) c.7015G>T (p.Ala2339Ser) c.3877G>T (p.Ala1293Ser) c.7153G>T (n.7153G>T) c.280-2279G>T c.7375G>T (n.7375G>T) n.2814G>T c.6976G>T (p.Ala2326Ser) c.7052G>T (n.7052G>T) n.3624G>T n.67+1848G>T n.137G>T c.6100G>T (p.Ala2034Ser) c.7000G>T (p.Ala2334Ser) c.6922G>T (p.Ala2308Ser) c.6898G>T (p.Ala2300Ser) c.6895G>T (p.Ala2299Ser) | |
X | g.154350969C>G | CA415185032 | FLNA | c.7072G>C (p.Ala2358Pro) c.7096G>C (p.Ala2366Pro) c.7015G>C (p.Ala2339Pro) c.3877G>C (p.Ala1293Pro) c.7153G>C (n.7153G>C) c.280-2279G>C c.7375G>C (n.7375G>C) n.2814G>C c.6976G>C (p.Ala2326Pro) c.7052G>C (n.7052G>C) n.3624G>C n.67+1848G>C n.137G>C c.6100G>C (p.Ala2034Pro) c.7000G>C (p.Ala2334Pro) c.6922G>C (p.Ala2308Pro) c.6898G>C (p.Ala2300Pro) c.6895G>C (p.Ala2299Pro) | |
X | g.154350969C>T | CA415185033 | FLNA | c.7072G>A (p.Ala2358Thr) c.7096G>A (p.Ala2366Thr) c.7015G>A (p.Ala2339Thr) c.3877G>A (p.Ala1293Thr) c.7153G>A (n.7153G>A) c.280-2279G>A c.7375G>A (n.7375G>A) n.2814G>A c.6976G>A (p.Ala2326Thr) c.7052G>A (n.7052G>A) n.3624G>A n.67+1848G>A n.137G>A c.6100G>A (p.Ala2034Thr) c.7000G>A (p.Ala2334Thr) c.6922G>A (p.Ala2308Thr) c.6898G>A (p.Ala2300Thr) c.6895G>A (p.Ala2299Thr) | ClinVar |
X | g.154350970A= | CA2466652374 | FLNA | c.7071T= (p.Asp2357=) c.7095T= (p.Asp2365=) c.7014T= (p.Asp2338=) c.3876T= (p.Asp1292=) c.7152T= (n.7152T=) c.280-2280T= c.7374T= (n.7374T=) n.2813T= c.6975T= (p.Asp2325=) c.7051T= (n.7051T=) n.3623T= n.67+1847T= n.136T= c.6099T= (p.Asp2033=) c.6999T= (p.Asp2333=) c.6921T= (p.Asp2307=) c.6897T= (p.Asp2299=) c.6894T= (p.Asp2298=) | |
X | g.154350970A>C | CA415185036 | FLNA | c.7071T>G (p.Asp2357Glu) c.7095T>G (p.Asp2365Glu) c.7014T>G (p.Asp2338Glu) c.3876T>G (p.Asp1292Glu) c.7152T>G (n.7152T>G) c.280-2280T>G c.7374T>G (n.7374T>G) n.2813T>G c.6975T>G (p.Asp2325Glu) c.7051T>G (n.7051T>G) n.3623T>G n.67+1847T>G n.136T>G c.6099T>G (p.Asp2033Glu) c.6999T>G (p.Asp2333Glu) c.6921T>G (p.Asp2307Glu) c.6897T>G (p.Asp2299Glu) c.6894T>G (p.Asp2298Glu) | |
X | g.154350970A>G | CA10559956 | FLNA | c.7071T>C (p.Asp2357=) c.7095T>C (p.Asp2365=) c.7014T>C (p.Asp2338=) c.3876T>C (p.Asp1292=) c.7152T>C (n.7152T>C) c.280-2280T>C c.7374T>C (n.7374T>C) n.2813T>C c.6975T>C (p.Asp2325=) c.7051T>C (n.7051T>C) n.3623T>C n.67+1847T>C n.136T>C c.6099T>C (p.Asp2033=) c.6999T>C (p.Asp2333=) c.6921T>C (p.Asp2307=) c.6897T>C (p.Asp2299=) c.6894T>C (p.Asp2298=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.154350970A>T | CA415185041 | FLNA | c.7071T>A (p.Asp2357Glu) c.7095T>A (p.Asp2365Glu) c.7014T>A (p.Asp2338Glu) c.3876T>A (p.Asp1292Glu) c.7152T>A (n.7152T>A) c.280-2280T>A c.7374T>A (n.7374T>A) n.2813T>A c.6975T>A (p.Asp2325Glu) c.7051T>A (n.7051T>A) n.3623T>A n.67+1847T>A n.136T>A c.6099T>A (p.Asp2033Glu) c.6999T>A (p.Asp2333Glu) c.6921T>A (p.Asp2307Glu) c.6897T>A (p.Asp2299Glu) c.6894T>A (p.Asp2298Glu) | |
X | g.154350971T>A | CA415185044 | FLNA | c.7070A>T (p.Asp2357Val) c.7094A>T (p.Asp2365Val) c.7013A>T (p.Asp2338Val) c.3875A>T (p.Asp1292Val) c.7151A>T (n.7151A>T) c.280-2281A>T c.7373A>T (n.7373A>T) n.2812A>T c.6974A>T (p.Asp2325Val) c.7050A>T (n.7050A>T) n.3622A>T n.67+1846A>T n.135A>T c.6098A>T (p.Asp2033Val) c.6998A>T (p.Asp2333Val) c.6920A>T (p.Asp2307Val) c.6896A>T (p.Asp2299Val) c.6893A>T (p.Asp2298Val) | |
X | g.154350971T>C | CA415185046 | FLNA | c.7070A>G (p.Asp2357Gly) c.7094A>G (p.Asp2365Gly) c.7013A>G (p.Asp2338Gly) c.3875A>G (p.Asp1292Gly) c.7151A>G (n.7151A>G) c.280-2281A>G c.7373A>G (n.7373A>G) n.2812A>G c.6974A>G (p.Asp2325Gly) c.7050A>G (n.7050A>G) n.3622A>G n.67+1846A>G n.135A>G c.6098A>G (p.Asp2033Gly) c.6998A>G (p.Asp2333Gly) c.6920A>G (p.Asp2307Gly) c.6896A>G (p.Asp2299Gly) c.6893A>G (p.Asp2298Gly) | |
X | g.154350971T>G | CA415185048 | FLNA | c.7070A>C (p.Asp2357Ala) c.7094A>C (p.Asp2365Ala) c.7013A>C (p.Asp2338Ala) c.3875A>C (p.Asp1292Ala) c.7151A>C (n.7151A>C) c.280-2281A>C c.7373A>C (n.7373A>C) n.2812A>C c.6974A>C (p.Asp2325Ala) c.7050A>C (n.7050A>C) n.3622A>C n.67+1846A>C n.135A>C c.6098A>C (p.Asp2033Ala) c.6998A>C (p.Asp2333Ala) c.6920A>C (p.Asp2307Ala) c.6896A>C (p.Asp2299Ala) c.6893A>C (p.Asp2298Ala) | |
X | g.154350972C>A | CA415185050 | FLNA | c.7069G>T (p.Asp2357Tyr) c.7093G>T (p.Asp2365Tyr) c.7012G>T (p.Asp2338Tyr) c.3874G>T (p.Asp1292Tyr) c.7150G>T (n.7150G>T) c.280-2282G>T c.7372G>T (n.7372G>T) n.2811G>T c.6973G>T (p.Asp2325Tyr) c.7049G>T (n.7049G>T) n.3621G>T n.67+1845G>T n.134G>T c.6097G>T (p.Asp2033Tyr) c.6997G>T (p.Asp2333Tyr) c.6919G>T (p.Asp2307Tyr) c.6895G>T (p.Asp2299Tyr) c.6892G>T (p.Asp2298Tyr) | |
X | g.154350972C>G | CA415185054 | FLNA | c.7069G>C (p.Asp2357His) c.7093G>C (p.Asp2365His) c.7012G>C (p.Asp2338His) c.3874G>C (p.Asp1292His) c.7150G>C (n.7150G>C) c.280-2282G>C c.7372G>C (n.7372G>C) n.2811G>C c.6973G>C (p.Asp2325His) c.7049G>C (n.7049G>C) n.3621G>C n.67+1845G>C n.134G>C c.6097G>C (p.Asp2033His) c.6997G>C (p.Asp2333His) c.6919G>C (p.Asp2307His) c.6895G>C (p.Asp2299His) c.6892G>C (p.Asp2298His) | |
X | g.154350972C>T | CA415185052 | FLNA | c.7069G>A (p.Asp2357Asn) c.7093G>A (p.Asp2365Asn) c.7012G>A (p.Asp2338Asn) c.3874G>A (p.Asp1292Asn) c.7150G>A (n.7150G>A) c.280-2282G>A c.7372G>A (n.7372G>A) n.2811G>A c.6973G>A (p.Asp2325Asn) c.7049G>A (n.7049G>A) n.3621G>A n.67+1845G>A n.134G>A c.6097G>A (p.Asp2033Asn) c.6997G>A (p.Asp2333Asn) c.6919G>A (p.Asp2307Asn) c.6895G>A (p.Asp2299Asn) c.6892G>A (p.Asp2298Asn) | ClinVar dbSNP gnomAD v4 |
X | g.154350973G>A | CA519276533 | FLNA | c.7068C>T (p.Ile2356=) c.7092C>T (p.Ile2364=) c.7011C>T (p.Ile2337=) c.3873C>T (p.Ile1291=) c.7149C>T (n.7149C>T) c.280-2283C>T c.7371C>T (n.7371C>T) n.2810C>T c.6972C>T (p.Ile2324=) c.7048C>T (n.7048C>T) n.3620C>T n.67+1844C>T n.133C>T c.6096C>T (p.Ile2032=) c.6996C>T (p.Ile2332=) c.6918C>T (p.Ile2306=) c.6894C>T (p.Ile2298=) c.6891C>T (p.Ile2297=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.154350973G>C | CA415185056 | FLNA | c.7068C>G (p.Ile2356Met) c.7092C>G (p.Ile2364Met) c.7011C>G (p.Ile2337Met) c.3873C>G (p.Ile1291Met) c.7149C>G (n.7149C>G) c.280-2283C>G c.7371C>G (n.7371C>G) n.2810C>G c.6972C>G (p.Ile2324Met) c.7048C>G (n.7048C>G) n.3620C>G n.67+1844C>G n.133C>G c.6096C>G (p.Ile2032Met) c.6996C>G (p.Ile2332Met) c.6918C>G (p.Ile2306Met) c.6894C>G (p.Ile2298Met) c.6891C>G (p.Ile2297Met) | |
X | g.154350973G= | CA2466652375 | FLNA | c.7068C= (p.Ile2356=) c.7092C= (p.Ile2364=) c.7011C= (p.Ile2337=) c.3873C= (p.Ile1291=) c.7149C= (n.7149C=) c.280-2283C= c.7371C= (n.7371C=) n.2810C= c.6972C= (p.Ile2324=) c.7048C= (n.7048C=) n.3620C= n.67+1844C= n.133C= c.6096C= (p.Ile2032=) c.6996C= (p.Ile2332=) c.6918C= (p.Ile2306=) c.6894C= (p.Ile2298=) c.6891C= (p.Ile2297=) | |
X | g.154350973G>T | CA10559957 | FLNA | c.7068C>A (p.Ile2356=) c.7092C>A (p.Ile2364=) c.7011C>A (p.Ile2337=) c.3873C>A (p.Ile1291=) c.7149C>A (n.7149C>A) c.280-2283C>A c.7371C>A (n.7371C>A) n.2810C>A c.6972C>A (p.Ile2324=) c.7048C>A (n.7048C>A) n.3620C>A n.67+1844C>A n.133C>A c.6096C>A (p.Ile2032=) c.6996C>A (p.Ile2332=) c.6918C>A (p.Ile2306=) c.6894C>A (p.Ile2298=) c.6891C>A (p.Ile2297=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.154350974A>C | CA415185060 | FLNA | c.7067T>G (p.Ile2356Ser) c.7091T>G (p.Ile2364Ser) c.7010T>G (p.Ile2337Ser) c.3872T>G (p.Ile1291Ser) c.7148T>G (n.7148T>G) c.280-2284T>G c.7370T>G (n.7370T>G) n.2809T>G c.6971T>G (p.Ile2324Ser) c.7047T>G (n.7047T>G) n.3619T>G n.67+1843T>G n.132T>G c.6095T>G (p.Ile2032Ser) c.6995T>G (p.Ile2332Ser) c.6917T>G (p.Ile2306Ser) c.6893T>G (p.Ile2298Ser) c.6890T>G (p.Ile2297Ser) | |
X | g.154350974A>G | CA415185062 | FLNA | c.7067T>C (p.Ile2356Thr) c.7091T>C (p.Ile2364Thr) c.7010T>C (p.Ile2337Thr) c.3872T>C (p.Ile1291Thr) c.7148T>C (n.7148T>C) c.280-2284T>C c.7370T>C (n.7370T>C) n.2809T>C c.6971T>C (p.Ile2324Thr) c.7047T>C (n.7047T>C) n.3619T>C n.67+1843T>C n.132T>C c.6095T>C (p.Ile2032Thr) c.6995T>C (p.Ile2332Thr) c.6917T>C (p.Ile2306Thr) c.6893T>C (p.Ile2298Thr) c.6890T>C (p.Ile2297Thr) | |
X | g.154350974A>T | CA415185063 | FLNA | c.7067T>A (p.Ile2356Asn) c.7091T>A (p.Ile2364Asn) c.7010T>A (p.Ile2337Asn) c.3872T>A (p.Ile1291Asn) c.7148T>A (n.7148T>A) c.280-2284T>A c.7370T>A (n.7370T>A) n.2809T>A c.6971T>A (p.Ile2324Asn) c.7047T>A (n.7047T>A) n.3619T>A n.67+1843T>A n.132T>A c.6095T>A (p.Ile2032Asn) c.6995T>A (p.Ile2332Asn) c.6917T>A (p.Ile2306Asn) c.6893T>A (p.Ile2298Asn) c.6890T>A (p.Ile2297Asn) | |
X | g.154350975T>A | CA415185065 | FLNA | c.7066A>T (p.Ile2356Phe) c.7090A>T (p.Ile2364Phe) c.7009A>T (p.Ile2337Phe) c.3871A>T (p.Ile1291Phe) c.7147A>T (n.7147A>T) c.280-2285A>T c.7369A>T (n.7369A>T) n.2808A>T c.6970A>T (p.Ile2324Phe) c.7046A>T (n.7046A>T) n.3618A>T n.67+1842A>T n.131A>T c.6094A>T (p.Ile2032Phe) c.6994A>T (p.Ile2332Phe) c.6916A>T (p.Ile2306Phe) c.6892A>T (p.Ile2298Phe) c.6889A>T (p.Ile2297Phe) | gnomAD v4 |
X | g.154350975T>C | CA415185067 | FLNA | c.7066A>G (p.Ile2356Val) c.7090A>G (p.Ile2364Val) c.7009A>G (p.Ile2337Val) c.3871A>G (p.Ile1291Val) c.7147A>G (n.7147A>G) c.280-2285A>G c.7369A>G (n.7369A>G) n.2808A>G c.6970A>G (p.Ile2324Val) c.7046A>G (n.7046A>G) n.3618A>G n.67+1842A>G n.131A>G c.6094A>G (p.Ile2032Val) c.6994A>G (p.Ile2332Val) c.6916A>G (p.Ile2306Val) c.6892A>G (p.Ile2298Val) c.6889A>G (p.Ile2297Val) | dbSNP gnomAD v3 gnomAD v4 |
X | g.154350975T>G | CA415185069 | FLNA | c.7066A>C (p.Ile2356Leu) c.7090A>C (p.Ile2364Leu) c.7009A>C (p.Ile2337Leu) c.3871A>C (p.Ile1291Leu) c.7147A>C (n.7147A>C) c.280-2285A>C c.7369A>C (n.7369A>C) n.2808A>C c.6970A>C (p.Ile2324Leu) c.7046A>C (n.7046A>C) n.3618A>C n.67+1842A>C n.131A>C c.6094A>C (p.Ile2032Leu) c.6994A>C (p.Ile2332Leu) c.6916A>C (p.Ile2306Leu) c.6892A>C (p.Ile2298Leu) c.6889A>C (p.Ile2297Leu) | |
X | g.154350975T= | CA2466652376 | FLNA | c.7066A= (p.Ile2356=) c.7090A= (p.Ile2364=) c.7009A= (p.Ile2337=) c.3871A= (p.Ile1291=) c.7147A= (n.7147A=) c.280-2285A= c.7369A= (n.7369A=) n.2808A= c.6970A= (p.Ile2324=) c.7046A= (n.7046A=) n.3618A= n.67+1842A= n.131A= c.6094A= (p.Ile2032=) c.6994A= (p.Ile2332=) c.6916A= (p.Ile2306=) c.6892A= (p.Ile2298=) c.6889A= (p.Ile2297=) | |
X | g.154350976C>A | CA519276535 | FLNA | c.7065G>T (p.Ala2355=) c.7089G>T (p.Ala2363=) c.7008G>T (p.Ala2336=) c.3870G>T (p.Ala1290=) c.7146G>T (n.7146G>T) c.280-2286G>T c.7368G>T (n.7368G>T) n.2807G>T c.6969G>T (p.Ala2323=) c.7045G>T (n.7045G>T) n.3617G>T n.67+1841G>T n.130G>T c.6093G>T (p.Ala2031=) c.6993G>T (p.Ala2331=) c.6915G>T (p.Ala2305=) c.6891G>T (p.Ala2297=) c.6888G>T (p.Ala2296=) | |
X | g.154350976C= | CA2466652377 | FLNA | c.7065G= (p.Ala2355=) c.7089G= (p.Ala2363=) c.7008G= (p.Ala2336=) c.3870G= (p.Ala1290=) c.7146G= (n.7146G=) c.280-2286G= c.7368G= (n.7368G=) n.2807G= c.6969G= (p.Ala2323=) c.7045G= (n.7045G=) n.3617G= n.67+1841G= n.130G= c.6093G= (p.Ala2031=) c.6993G= (p.Ala2331=) c.6915G= (p.Ala2305=) c.6891G= (p.Ala2297=) c.6888G= (p.Ala2296=) | |
X | g.154350976C>G | CA519276534 | FLNA | c.7065G>C (p.Ala2355=) c.7089G>C (p.Ala2363=) c.7008G>C (p.Ala2336=) c.3870G>C (p.Ala1290=) c.7146G>C (n.7146G>C) c.280-2286G>C c.7368G>C (n.7368G>C) n.2807G>C c.6969G>C (p.Ala2323=) c.7045G>C (n.7045G>C) n.3617G>C n.67+1841G>C n.130G>C c.6093G>C (p.Ala2031=) c.6993G>C (p.Ala2331=) c.6915G>C (p.Ala2305=) c.6891G>C (p.Ala2297=) c.6888G>C (p.Ala2296=) | |
X | g.154350976C>T | CA10559958 | FLNA | c.7065G>A (p.Ala2355=) c.7089G>A (p.Ala2363=) c.7008G>A (p.Ala2336=) c.3870G>A (p.Ala1290=) c.7146G>A (n.7146G>A) c.280-2286G>A c.7368G>A (n.7368G>A) n.2807G>A c.6969G>A (p.Ala2323=) c.7045G>A (n.7045G>A) n.3617G>A n.67+1841G>A n.130G>A c.6093G>A (p.Ala2031=) c.6993G>A (p.Ala2331=) c.6915G>A (p.Ala2305=) c.6891G>A (p.Ala2297=) c.6888G>A (p.Ala2296=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.154350977G>A | CA415185077 | FLNA | c.7064C>T (p.Ala2355Val) c.7088C>T (p.Ala2363Val) c.7007C>T (p.Ala2336Val) c.3869C>T (p.Ala1290Val) c.7145C>T (n.7145C>T) c.280-2287C>T c.7367C>T (n.7367C>T) n.2806C>T c.6968C>T (p.Ala2323Val) c.7044C>T (n.7044C>T) n.3616C>T n.67+1840C>T n.129C>T c.6092C>T (p.Ala2031Val) c.6992C>T (p.Ala2331Val) c.6914C>T (p.Ala2305Val) c.6890C>T (p.Ala2297Val) c.6887C>T (p.Ala2296Val) | ClinVar gnomAD v4 COSMIC COSMIC |
X | g.154350977G>C | CA415185075 | FLNA | c.7064C>G (p.Ala2355Gly) c.7088C>G (p.Ala2363Gly) c.7007C>G (p.Ala2336Gly) c.3869C>G (p.Ala1290Gly) c.7145C>G (n.7145C>G) c.280-2287C>G c.7367C>G (n.7367C>G) n.2806C>G c.6968C>G (p.Ala2323Gly) c.7044C>G (n.7044C>G) n.3616C>G n.67+1840C>G n.129C>G c.6092C>G (p.Ala2031Gly) c.6992C>G (p.Ala2331Gly) c.6914C>G (p.Ala2305Gly) c.6890C>G (p.Ala2297Gly) c.6887C>G (p.Ala2296Gly) | |
X | g.154350977G>T | CA415185073 | FLNA | c.7064C>A (p.Ala2355Glu) c.7088C>A (p.Ala2363Glu) c.7007C>A (p.Ala2336Glu) c.3869C>A (p.Ala1290Glu) c.7145C>A (n.7145C>A) c.280-2287C>A c.7367C>A (n.7367C>A) n.2806C>A c.6968C>A (p.Ala2323Glu) c.7044C>A (n.7044C>A) n.3616C>A n.67+1840C>A n.129C>A c.6092C>A (p.Ala2031Glu) c.6992C>A (p.Ala2331Glu) c.6914C>A (p.Ala2305Glu) c.6890C>A (p.Ala2297Glu) c.6887C>A (p.Ala2296Glu) | ClinVar |
X | g.154350978C>A | CA415185079 | FLNA | c.7063G>T (p.Ala2355Ser) c.7087G>T (p.Ala2363Ser) c.7006G>T (p.Ala2336Ser) c.3868G>T (p.Ala1290Ser) c.7144G>T (n.7144G>T) c.280-2288G>T c.7366G>T (n.7366G>T) n.2805G>T c.6967G>T (p.Ala2323Ser) c.7043G>T (n.7043G>T) n.3615G>T n.67+1839G>T n.128G>T c.6091G>T (p.Ala2031Ser) c.6991G>T (p.Ala2331Ser) c.6913G>T (p.Ala2305Ser) c.6889G>T (p.Ala2297Ser) c.6886G>T (p.Ala2296Ser) | gnomAD v4 |
X | g.154350978C>G | CA415185083 | FLNA | c.7063G>C (p.Ala2355Pro) c.7087G>C (p.Ala2363Pro) c.7006G>C (p.Ala2336Pro) c.3868G>C (p.Ala1290Pro) c.7144G>C (n.7144G>C) c.280-2288G>C c.7366G>C (n.7366G>C) n.2805G>C c.6967G>C (p.Ala2323Pro) c.7043G>C (n.7043G>C) n.3615G>C n.67+1839G>C n.128G>C c.6091G>C (p.Ala2031Pro) c.6991G>C (p.Ala2331Pro) c.6913G>C (p.Ala2305Pro) c.6889G>C (p.Ala2297Pro) c.6886G>C (p.Ala2296Pro) | |
X | g.154350978C>T | CA415185081 | FLNA | c.7063G>A (p.Ala2355Thr) c.7087G>A (p.Ala2363Thr) c.7006G>A (p.Ala2336Thr) c.3868G>A (p.Ala1290Thr) c.7144G>A (n.7144G>A) c.280-2288G>A c.7366G>A (n.7366G>A) n.2805G>A c.6967G>A (p.Ala2323Thr) c.7043G>A (n.7043G>A) n.3615G>A n.67+1839G>A n.128G>A c.6091G>A (p.Ala2031Thr) c.6991G>A (p.Ala2331Thr) c.6913G>A (p.Ala2305Thr) c.6889G>A (p.Ala2297Thr) c.6886G>A (p.Ala2296Thr) | |
X | g.154350982del | CA2579737696 | FLNA | c.7063del (p.Ala2355ArgfsTer?) c.7087del (p.Ala2363ArgfsTer?) c.7006del (p.Ala2336ArgfsTer?) c.3868del (p.Ala1290ArgfsTer?) c.7144del (n.7144del) c.280-2288del c.7366del (n.7366del) n.2805del c.6967del (p.Ala2323ArgfsTer?) c.7043del (n.7043del) n.3615del n.67+1839del n.128del c.6091del (p.Ala2031ArgfsTer?) c.6991del (p.Ala2331ArgfsTer?) c.6913del (p.Ala2305ArgfsTer?) c.6889del (p.Ala2297ArgfsTer?) c.6886del (p.Ala2296ArgfsTer?) | |
X | g.154350979C>A | CA519276536 | FLNA | c.7062G>T (p.Gly2354=) c.7086G>T (p.Gly2362=) c.7005G>T (p.Gly2335=) c.3867G>T (p.Gly1289=) c.7143G>T (n.7143G>T) c.280-2289G>T c.7365G>T (n.7365G>T) n.2804G>T c.6966G>T (p.Gly2322=) c.7042G>T (n.7042G>T) n.3614G>T n.67+1838G>T n.127G>T c.6090G>T (p.Gly2030=) c.6990G>T (p.Gly2330=) c.6912G>T (p.Gly2304=) c.6888G>T (p.Gly2296=) c.6885G>T (p.Gly2295=) | gnomAD v4 |
X | g.154350979C>G | CA519276537 | FLNA | c.7062G>C (p.Gly2354=) c.7086G>C (p.Gly2362=) c.7005G>C (p.Gly2335=) c.3867G>C (p.Gly1289=) c.7143G>C (n.7143G>C) c.280-2289G>C c.7365G>C (n.7365G>C) n.2804G>C c.6966G>C (p.Gly2322=) c.7042G>C (n.7042G>C) n.3614G>C n.67+1838G>C n.127G>C c.6090G>C (p.Gly2030=) c.6990G>C (p.Gly2330=) c.6912G>C (p.Gly2304=) c.6888G>C (p.Gly2296=) c.6885G>C (p.Gly2295=) | |
X | g.154350979C>T | CA519276538 | FLNA | c.7062G>A (p.Gly2354=) c.7086G>A (p.Gly2362=) c.7005G>A (p.Gly2335=) c.3867G>A (p.Gly1289=) c.7143G>A (n.7143G>A) c.280-2289G>A c.7365G>A (n.7365G>A) n.2804G>A c.6966G>A (p.Gly2322=) c.7042G>A (n.7042G>A) n.3614G>A n.67+1838G>A n.127G>A c.6090G>A (p.Gly2030=) c.6990G>A (p.Gly2330=) c.6912G>A (p.Gly2304=) c.6888G>A (p.Gly2296=) c.6885G>A (p.Gly2295=) | |
X | g.154350980C>A | CA415185085 | FLNA | c.7061G>T (p.Gly2354Val) c.7085G>T (p.Gly2362Val) c.7004G>T (p.Gly2335Val) c.3866G>T (p.Gly1289Val) c.7142G>T (n.7142G>T) c.280-2290G>T c.7364G>T (n.7364G>T) n.2803G>T c.6965G>T (p.Gly2322Val) c.7041G>T (n.7041G>T) n.3613G>T n.67+1837G>T n.126G>T c.6089G>T (p.Gly2030Val) c.6989G>T (p.Gly2330Val) c.6911G>T (p.Gly2304Val) c.6887G>T (p.Gly2296Val) c.6884G>T (p.Gly2295Val) | |
X | g.154350980C>G | CA415185087 | FLNA | c.7061G>C (p.Gly2354Ala) c.7085G>C (p.Gly2362Ala) c.7004G>C (p.Gly2335Ala) c.3866G>C (p.Gly1289Ala) c.7142G>C (n.7142G>C) c.280-2290G>C c.7364G>C (n.7364G>C) n.2803G>C c.6965G>C (p.Gly2322Ala) c.7041G>C (n.7041G>C) n.3613G>C n.67+1837G>C n.126G>C c.6089G>C (p.Gly2030Ala) c.6989G>C (p.Gly2330Ala) c.6911G>C (p.Gly2304Ala) c.6887G>C (p.Gly2296Ala) c.6884G>C (p.Gly2295Ala) | |
X | g.154350980C>T | CA415185089 | FLNA | c.7061G>A (p.Gly2354Glu) c.7085G>A (p.Gly2362Glu) c.7004G>A (p.Gly2335Glu) c.3866G>A (p.Gly1289Glu) c.7142G>A (n.7142G>A) c.280-2290G>A c.7364G>A (n.7364G>A) n.2803G>A c.6965G>A (p.Gly2322Glu) c.7041G>A (n.7041G>A) n.3613G>A n.67+1837G>A n.126G>A c.6089G>A (p.Gly2030Glu) c.6989G>A (p.Gly2330Glu) c.6911G>A (p.Gly2304Glu) c.6887G>A (p.Gly2296Glu) c.6884G>A (p.Gly2295Glu) | |
X | g.154350981C>A | CA415185091 | FLNA | c.7060G>T (p.Gly2354Trp) c.7084G>T (p.Gly2362Trp) c.7003G>T (p.Gly2335Trp) c.3865G>T (p.Gly1289Trp) c.7141G>T (n.7141G>T) c.280-2291G>T c.7363G>T (n.7363G>T) n.2802G>T c.6964G>T (p.Gly2322Trp) c.7040G>T (n.7040G>T) n.3612G>T n.67+1836G>T n.125G>T c.6088G>T (p.Gly2030Trp) c.6988G>T (p.Gly2330Trp) c.6910G>T (p.Gly2304Trp) c.6886G>T (p.Gly2296Trp) c.6883G>T (p.Gly2295Trp) | |
X | g.154350981C>G | CA415185093 | FLNA | c.7060G>C (p.Gly2354Arg) c.7084G>C (p.Gly2362Arg) c.7003G>C (p.Gly2335Arg) c.3865G>C (p.Gly1289Arg) c.7141G>C (n.7141G>C) c.280-2291G>C c.7363G>C (n.7363G>C) n.2802G>C c.6964G>C (p.Gly2322Arg) c.7040G>C (n.7040G>C) n.3612G>C n.67+1836G>C n.125G>C c.6088G>C (p.Gly2030Arg) c.6988G>C (p.Gly2330Arg) c.6910G>C (p.Gly2304Arg) c.6886G>C (p.Gly2296Arg) c.6883G>C (p.Gly2295Arg) | |
X | g.154350981C>T | CA415185095 | FLNA | c.7060G>A (p.Gly2354Arg) c.7084G>A (p.Gly2362Arg) c.7003G>A (p.Gly2335Arg) c.3865G>A (p.Gly1289Arg) c.7141G>A (n.7141G>A) c.280-2291G>A c.7363G>A (n.7363G>A) n.2802G>A c.6964G>A (p.Gly2322Arg) c.7040G>A (n.7040G>A) n.3612G>A n.67+1836G>A n.125G>A c.6088G>A (p.Gly2030Arg) c.6988G>A (p.Gly2330Arg) c.6910G>A (p.Gly2304Arg) c.6886G>A (p.Gly2296Arg) c.6883G>A (p.Gly2295Arg) | |
X | g.154350982C>A | CA415185098 | FLNA | c.7059G>T (p.Lys2353Asn) c.7083G>T (p.Lys2361Asn) c.7002G>T (p.Lys2334Asn) c.3864G>T (p.Lys1288Asn) c.7140G>T (n.7140G>T) c.280-2292G>T c.7362G>T (n.7362G>T) n.2801G>T c.6963G>T (p.Lys2321Asn) c.7039G>T (n.7039G>T) n.3611G>T n.67+1835G>T n.124G>T c.6087G>T (p.Lys2029Asn) c.6987G>T (p.Lys2329Asn) c.6909G>T (p.Lys2303Asn) c.6885G>T (p.Lys2295Asn) c.6882G>T (p.Lys2294Asn) | |
X | g.154350982C>G | CA415185100 | FLNA | c.7059G>C (p.Lys2353Asn) c.7083G>C (p.Lys2361Asn) c.7002G>C (p.Lys2334Asn) c.3864G>C (p.Lys1288Asn) c.7140G>C (n.7140G>C) c.280-2292G>C c.7362G>C (n.7362G>C) n.2801G>C c.6963G>C (p.Lys2321Asn) c.7039G>C (n.7039G>C) n.3611G>C n.67+1835G>C n.124G>C c.6087G>C (p.Lys2029Asn) c.6987G>C (p.Lys2329Asn) c.6909G>C (p.Lys2303Asn) c.6885G>C (p.Lys2295Asn) c.6882G>C (p.Lys2294Asn) | gnomAD v4 |
X | g.154350982C>T | CA519276539 | FLNA | c.7059G>A (p.Lys2353=) c.7083G>A (p.Lys2361=) c.7002G>A (p.Lys2334=) c.3864G>A (p.Lys1288=) c.7140G>A (n.7140G>A) c.280-2292G>A c.7362G>A (n.7362G>A) n.2801G>A c.6963G>A (p.Lys2321=) c.7039G>A (n.7039G>A) n.3611G>A n.67+1835G>A n.124G>A c.6087G>A (p.Lys2029=) c.6987G>A (p.Lys2329=) c.6909G>A (p.Lys2303=) c.6885G>A (p.Lys2295=) c.6882G>A (p.Lys2294=) | |
X | g.154350983T>A | CA415185102 | FLNA | c.7058A>T (p.Lys2353Met) c.7082A>T (p.Lys2361Met) c.7001A>T (p.Lys2334Met) c.3863A>T (p.Lys1288Met) c.7139A>T (n.7139A>T) c.280-2293A>T c.7361A>T (n.7361A>T) n.2800A>T c.6962A>T (p.Lys2321Met) c.7038A>T (n.7038A>T) n.3610A>T n.67+1834A>T n.123A>T c.6086A>T (p.Lys2029Met) c.6986A>T (p.Lys2329Met) c.6908A>T (p.Lys2303Met) c.6884A>T (p.Lys2295Met) c.6881A>T (p.Lys2294Met) | |
X | g.154350983T>C | CA415185104 | FLNA | c.7058A>G (p.Lys2353Arg) c.7082A>G (p.Lys2361Arg) c.7001A>G (p.Lys2334Arg) c.3863A>G (p.Lys1288Arg) c.7139A>G (n.7139A>G) c.280-2293A>G c.7361A>G (n.7361A>G) n.2800A>G c.6962A>G (p.Lys2321Arg) c.7038A>G (n.7038A>G) n.3610A>G n.67+1834A>G n.123A>G c.6086A>G (p.Lys2029Arg) c.6986A>G (p.Lys2329Arg) c.6908A>G (p.Lys2303Arg) c.6884A>G (p.Lys2295Arg) c.6881A>G (p.Lys2294Arg) | |
X | g.154350983T>G | CA415185106 | FLNA | c.7058A>C (p.Lys2353Thr) c.7082A>C (p.Lys2361Thr) c.7001A>C (p.Lys2334Thr) c.3863A>C (p.Lys1288Thr) c.7139A>C (n.7139A>C) c.280-2293A>C c.7361A>C (n.7361A>C) n.2800A>C c.6962A>C (p.Lys2321Thr) c.7038A>C (n.7038A>C) n.3610A>C n.67+1834A>C n.123A>C c.6086A>C (p.Lys2029Thr) c.6986A>C (p.Lys2329Thr) c.6908A>C (p.Lys2303Thr) c.6884A>C (p.Lys2295Thr) c.6881A>C (p.Lys2294Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.154350983T= | CA2466652378 | FLNA | c.7058A= (p.Lys2353=) c.7082A= (p.Lys2361=) c.7001A= (p.Lys2334=) c.3863A= (p.Lys1288=) c.7139A= (n.7139A=) c.280-2293A= c.7361A= (n.7361A=) n.2800A= c.6962A= (p.Lys2321=) c.7038A= (n.7038A=) n.3610A= n.67+1834A= n.123A= c.6086A= (p.Lys2029=) c.6986A= (p.Lys2329=) c.6908A= (p.Lys2303=) c.6884A= (p.Lys2295=) c.6881A= (p.Lys2294=) | |
X | g.154350984T>A | CA415185110 | FLNA | c.7057A>T (p.Lys2353Ter) c.7081A>T (p.Lys2361Ter) c.7000A>T (p.Lys2334Ter) c.3862A>T (p.Lys1288Ter) c.7138A>T (n.7138A>T) c.280-2294A>T c.7360A>T (n.7360A>T) n.2799A>T c.6961A>T (p.Lys2321Ter) c.7037A>T (n.7037A>T) n.3609A>T n.67+1833A>T n.122A>T c.6085A>T (p.Lys2029Ter) c.6985A>T (p.Lys2329Ter) c.6907A>T (p.Lys2303Ter) c.6883A>T (p.Lys2295Ter) c.6880A>T (p.Lys2294Ter) | |
X | g.154350984T>C | CA415185108 | FLNA | c.7057A>G (p.Lys2353Glu) c.7081A>G (p.Lys2361Glu) c.7000A>G (p.Lys2334Glu) c.3862A>G (p.Lys1288Glu) c.7138A>G (n.7138A>G) c.280-2294A>G c.7360A>G (n.7360A>G) n.2799A>G c.6961A>G (p.Lys2321Glu) c.7037A>G (n.7037A>G) n.3609A>G n.67+1833A>G n.122A>G c.6085A>G (p.Lys2029Glu) c.6985A>G (p.Lys2329Glu) c.6907A>G (p.Lys2303Glu) c.6883A>G (p.Lys2295Glu) c.6880A>G (p.Lys2294Glu) | gnomAD v4 |
X | g.154350984T>G | CA415185109 | FLNA | c.7057A>C (p.Lys2353Gln) c.7081A>C (p.Lys2361Gln) c.7000A>C (p.Lys2334Gln) c.3862A>C (p.Lys1288Gln) c.7138A>C (n.7138A>C) c.280-2294A>C c.7360A>C (n.7360A>C) n.2799A>C c.6961A>C (p.Lys2321Gln) c.7037A>C (n.7037A>C) n.3609A>C n.67+1833A>C n.122A>C c.6085A>C (p.Lys2029Gln) c.6985A>C (p.Lys2329Gln) c.6907A>C (p.Lys2303Gln) c.6883A>C (p.Lys2295Gln) c.6880A>C (p.Lys2294Gln) | |
X | g.154350985G>A | CA519276540 | FLNA | c.7056C>T (p.Ala2352=) c.7080C>T (p.Ala2360=) c.6999C>T (p.Ala2333=) c.3861C>T (p.Ala1287=) c.7137C>T (n.7137C>T) c.280-2295C>T c.7359C>T (n.7359C>T) n.2798C>T c.6960C>T (p.Ala2320=) c.7036C>T (n.7036C>T) n.3608C>T n.67+1832C>T n.121C>T c.6084C>T (p.Ala2028=) c.6984C>T (p.Ala2328=) c.6906C>T (p.Ala2302=) c.6882C>T (p.Ala2294=) c.6879C>T (p.Ala2293=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.154350985G>C | CA519276541 | FLNA | c.7056C>G (p.Ala2352=) c.7080C>G (p.Ala2360=) c.6999C>G (p.Ala2333=) c.3861C>G (p.Ala1287=) c.7137C>G (n.7137C>G) c.280-2295C>G c.7359C>G (n.7359C>G) n.2798C>G c.6960C>G (p.Ala2320=) c.7036C>G (n.7036C>G) n.3608C>G n.67+1832C>G n.121C>G c.6084C>G (p.Ala2028=) c.6984C>G (p.Ala2328=) c.6906C>G (p.Ala2302=) c.6882C>G (p.Ala2294=) c.6879C>G (p.Ala2293=) | |
X | g.154350985G= | CA2466652379 | FLNA | c.7056C= (p.Ala2352=) c.7080C= (p.Ala2360=) c.6999C= (p.Ala2333=) c.3861C= (p.Ala1287=) c.7137C= (n.7137C=) c.280-2295C= c.7359C= (n.7359C=) n.2798C= c.6960C= (p.Ala2320=) c.7036C= (n.7036C=) n.3608C= n.67+1832C= n.121C= c.6084C= (p.Ala2028=) c.6984C= (p.Ala2328=) c.6906C= (p.Ala2302=) c.6882C= (p.Ala2294=) c.6879C= (p.Ala2293=) | |
X | g.154350985G>T | CA519276542 | FLNA | c.7056C>A (p.Ala2352=) c.7080C>A (p.Ala2360=) c.6999C>A (p.Ala2333=) c.3861C>A (p.Ala1287=) c.7137C>A (n.7137C>A) c.280-2295C>A c.7359C>A (n.7359C>A) n.2798C>A c.6960C>A (p.Ala2320=) c.7036C>A (n.7036C>A) n.3608C>A n.67+1832C>A n.121C>A c.6084C>A (p.Ala2028=) c.6984C>A (p.Ala2328=) c.6906C>A (p.Ala2302=) c.6882C>A (p.Ala2294=) c.6879C>A (p.Ala2293=) | |
X | g.154350986G>A | CA415185113 | FLNA | c.7055C>T (p.Ala2352Val) c.7079C>T (p.Ala2360Val) c.6998C>T (p.Ala2333Val) c.3860C>T (p.Ala1287Val) c.7136C>T (n.7136C>T) c.280-2296C>T c.7358C>T (n.7358C>T) n.2797C>T c.6959C>T (p.Ala2320Val) c.7035C>T (n.7035C>T) n.3607C>T n.67+1831C>T n.120C>T c.6083C>T (p.Ala2028Val) c.6983C>T (p.Ala2328Val) c.6905C>T (p.Ala2302Val) c.6881C>T (p.Ala2294Val) c.6878C>T (p.Ala2293Val) | |
X | g.154350986G>C | CA415185115 | FLNA | c.7055C>G (p.Ala2352Gly) c.7079C>G (p.Ala2360Gly) c.6998C>G (p.Ala2333Gly) c.3860C>G (p.Ala1287Gly) c.7136C>G (n.7136C>G) c.280-2296C>G c.7358C>G (n.7358C>G) n.2797C>G c.6959C>G (p.Ala2320Gly) c.7035C>G (n.7035C>G) n.3607C>G n.67+1831C>G n.120C>G c.6083C>G (p.Ala2028Gly) c.6983C>G (p.Ala2328Gly) c.6905C>G (p.Ala2302Gly) c.6881C>G (p.Ala2294Gly) c.6878C>G (p.Ala2293Gly) | |
X | g.154350986G>T | CA415185116 | FLNA | c.7055C>A (p.Ala2352Asp) c.7079C>A (p.Ala2360Asp) c.6998C>A (p.Ala2333Asp) c.3860C>A (p.Ala1287Asp) c.7136C>A (n.7136C>A) c.280-2296C>A c.7358C>A (n.7358C>A) n.2797C>A c.6959C>A (p.Ala2320Asp) c.7035C>A (n.7035C>A) n.3607C>A n.67+1831C>A n.120C>A c.6083C>A (p.Ala2028Asp) c.6983C>A (p.Ala2328Asp) c.6905C>A (p.Ala2302Asp) c.6881C>A (p.Ala2294Asp) c.6878C>A (p.Ala2293Asp) | |
X | g.154350987C>A | CA415185120 | FLNA | c.7054G>T (p.Ala2352Ser) c.7078G>T (p.Ala2360Ser) c.6997G>T (p.Ala2333Ser) c.3859G>T (p.Ala1287Ser) c.7135G>T (n.7135G>T) c.280-2297G>T c.7357G>T (n.7357G>T) n.2796G>T c.6958G>T (p.Ala2320Ser) c.7034G>T (n.7034G>T) n.3606G>T n.67+1830G>T n.119G>T c.6082G>T (p.Ala2028Ser) c.6982G>T (p.Ala2328Ser) c.6904G>T (p.Ala2302Ser) c.6880G>T (p.Ala2294Ser) c.6877G>T (p.Ala2293Ser) | |
X | g.154350987C>G | CA415185121 | FLNA | c.7054G>C (p.Ala2352Pro) c.7078G>C (p.Ala2360Pro) c.6997G>C (p.Ala2333Pro) c.3859G>C (p.Ala1287Pro) c.7135G>C (n.7135G>C) c.280-2297G>C c.7357G>C (n.7357G>C) n.2796G>C c.6958G>C (p.Ala2320Pro) c.7034G>C (n.7034G>C) n.3606G>C n.67+1830G>C n.119G>C c.6082G>C (p.Ala2028Pro) c.6982G>C (p.Ala2328Pro) c.6904G>C (p.Ala2302Pro) c.6880G>C (p.Ala2294Pro) c.6877G>C (p.Ala2293Pro) | |
X | g.154350987C>T | CA415185122 | FLNA | c.7054G>A (p.Ala2352Thr) c.7078G>A (p.Ala2360Thr) c.6997G>A (p.Ala2333Thr) c.3859G>A (p.Ala1287Thr) c.7135G>A (n.7135G>A) c.280-2297G>A c.7357G>A (n.7357G>A) n.2796G>A c.6958G>A (p.Ala2320Thr) c.7034G>A (n.7034G>A) n.3606G>A n.67+1830G>A n.119G>A c.6082G>A (p.Ala2028Thr) c.6982G>A (p.Ala2328Thr) c.6904G>A (p.Ala2302Thr) c.6880G>A (p.Ala2294Thr) c.6877G>A (p.Ala2293Thr) | |
X | g.154350988C>A | CA519276543 | FLNA | c.7053G>T (p.Gly2351=) c.7077G>T (p.Gly2359=) c.6996G>T (p.Gly2332=) c.3858G>T (p.Gly1286=) c.7134G>T (n.7134G>T) c.280-2298G>T c.7356G>T (n.7356G>T) n.2795G>T c.6957G>T (p.Gly2319=) c.7033G>T (n.7033G>T) n.3605G>T n.67+1829G>T n.118G>T c.6081G>T (p.Gly2027=) c.6981G>T (p.Gly2327=) c.6903G>T (p.Gly2301=) c.6879G>T (p.Gly2293=) c.6876G>T (p.Gly2292=) | |
X | g.154350988C= | CA2466652380 | FLNA | c.7053G= (p.Gly2351=) c.7077G= (p.Gly2359=) c.6996G= (p.Gly2332=) c.3858G= (p.Gly1286=) c.7134G= (n.7134G=) c.280-2298G= c.7356G= (n.7356G=) n.2795G= c.6957G= (p.Gly2319=) c.7033G= (n.7033G=) n.3605G= n.67+1829G= n.118G= c.6081G= (p.Gly2027=) c.6981G= (p.Gly2327=) c.6903G= (p.Gly2301=) c.6879G= (p.Gly2293=) c.6876G= (p.Gly2292=) | |
X | g.154350988C>G | CA519276545 | FLNA | c.7053G>C (p.Gly2351=) c.7077G>C (p.Gly2359=) c.6996G>C (p.Gly2332=) c.3858G>C (p.Gly1286=) c.7134G>C (n.7134G>C) c.280-2298G>C c.7356G>C (n.7356G>C) n.2795G>C c.6957G>C (p.Gly2319=) c.7033G>C (n.7033G>C) n.3605G>C n.67+1829G>C n.118G>C c.6081G>C (p.Gly2027=) c.6981G>C (p.Gly2327=) c.6903G>C (p.Gly2301=) c.6879G>C (p.Gly2293=) c.6876G>C (p.Gly2292=) | |
X | g.154350988C>T | CA519276544 | FLNA | c.7053G>A (p.Gly2351=) c.7077G>A (p.Gly2359=) c.6996G>A (p.Gly2332=) c.3858G>A (p.Gly1286=) c.7134G>A (n.7134G>A) c.280-2298G>A c.7356G>A (n.7356G>A) n.2795G>A c.6957G>A (p.Gly2319=) c.7033G>A (n.7033G>A) n.3605G>A n.67+1829G>A n.118G>A c.6081G>A (p.Gly2027=) c.6981G>A (p.Gly2327=) c.6903G>A (p.Gly2301=) c.6879G>A (p.Gly2293=) c.6876G>A (p.Gly2292=) | dbSNP gnomAD v2 gnomAD v4 |
X | g.154350988_154350990delinsA | CA2695237767 | FLNA | c.7051_7053delinsT (p.Gly2351CysfsTer25) c.7075_7077delinsT (p.Gly2359CysfsTer25) c.6994_6996delinsT (p.Gly2332CysfsTer25) c.3856_3858delinsT (p.Gly1286CysfsTer25) c.7132_7134delinsT (n.7132_7134delinsT) c.280-2300_280-2298delinsT c.7354_7356delinsT (n.7354_7356delinsT) n.2793_2795delinsT c.6955_6957delinsT (p.Gly2319CysfsTer25) c.7031_7033delinsT (n.7031_7033delinsT) n.3603_3605delinsT n.67+1827_67+1829delinsT n.116_118delinsT c.6079_6081delinsT (p.Gly2027CysfsTer25) c.6979_6981delinsT (p.Gly2327CysfsTer25) c.6901_6903delinsT (p.Gly2301CysfsTer25) c.6877_6879delinsT (p.Gly2293CysfsTer25) c.6874_6876delinsT (p.Gly2292CysfsTer25) | |
X | g.154350989C>A | CA415185125 | FLNA | c.7052G>T (p.Gly2351Val) c.7076G>T (p.Gly2359Val) c.6995G>T (p.Gly2332Val) c.3857G>T (p.Gly1286Val) c.7133G>T (n.7133G>T) c.280-2299G>T c.7355G>T (n.7355G>T) n.2794G>T c.6956G>T (p.Gly2319Val) c.7032G>T (n.7032G>T) n.3604G>T n.67+1828G>T n.117G>T c.6080G>T (p.Gly2027Val) c.6980G>T (p.Gly2327Val) c.6902G>T (p.Gly2301Val) c.6878G>T (p.Gly2293Val) c.6875G>T (p.Gly2292Val) | |
X | g.154350989C>G | CA415185127 | FLNA | c.7052G>C (p.Gly2351Ala) c.7076G>C (p.Gly2359Ala) c.6995G>C (p.Gly2332Ala) c.3857G>C (p.Gly1286Ala) c.7133G>C (n.7133G>C) c.280-2299G>C c.7355G>C (n.7355G>C) n.2794G>C c.6956G>C (p.Gly2319Ala) c.7032G>C (n.7032G>C) n.3604G>C n.67+1828G>C n.117G>C c.6080G>C (p.Gly2027Ala) c.6980G>C (p.Gly2327Ala) c.6902G>C (p.Gly2301Ala) c.6878G>C (p.Gly2293Ala) c.6875G>C (p.Gly2292Ala) | |
X | g.154350989C>T | CA415185130 | FLNA | c.7052G>A (p.Gly2351Glu) c.7076G>A (p.Gly2359Glu) c.6995G>A (p.Gly2332Glu) c.3857G>A (p.Gly1286Glu) c.7133G>A (n.7133G>A) c.280-2299G>A c.7355G>A (n.7355G>A) n.2794G>A c.6956G>A (p.Gly2319Glu) c.7032G>A (n.7032G>A) n.3604G>A n.67+1828G>A n.117G>A c.6080G>A (p.Gly2027Glu) c.6980G>A (p.Gly2327Glu) c.6902G>A (p.Gly2301Glu) c.6878G>A (p.Gly2293Glu) c.6875G>A (p.Gly2292Glu) | |
X | g.154350990C>A | CA415185136 | FLNA | c.7051G>T (p.Gly2351Trp) c.7075G>T (p.Gly2359Trp) c.6994G>T (p.Gly2332Trp) c.3856G>T (p.Gly1286Trp) c.7132G>T (n.7132G>T) c.280-2300G>T c.7354G>T (n.7354G>T) n.2793G>T c.6955G>T (p.Gly2319Trp) c.7031G>T (n.7031G>T) n.3603G>T n.67+1827G>T n.116G>T c.6079G>T (p.Gly2027Trp) c.6979G>T (p.Gly2327Trp) c.6901G>T (p.Gly2301Trp) c.6877G>T (p.Gly2293Trp) c.6874G>T (p.Gly2292Trp) | |
X | g.154350990C= | CA2466652381 | FLNA | c.7051G= (p.Gly2351=) c.7075G= (p.Gly2359=) c.6994G= (p.Gly2332=) c.3856G= (p.Gly1286=) c.7132G= (n.7132G=) c.280-2300G= c.7354G= (n.7354G=) n.2793G= c.6955G= (p.Gly2319=) c.7031G= (n.7031G=) n.3603G= n.67+1827G= n.116G= c.6079G= (p.Gly2027=) c.6979G= (p.Gly2327=) c.6901G= (p.Gly2301=) c.6877G= (p.Gly2293=) c.6874G= (p.Gly2292=) | |
X | g.154350990C>G | CA415185134 | FLNA | c.7051G>C (p.Gly2351Arg) c.7075G>C (p.Gly2359Arg) c.6994G>C (p.Gly2332Arg) c.3856G>C (p.Gly1286Arg) c.7132G>C (n.7132G>C) c.280-2300G>C c.7354G>C (n.7354G>C) n.2793G>C c.6955G>C (p.Gly2319Arg) c.7031G>C (n.7031G>C) n.3603G>C n.67+1827G>C n.116G>C c.6079G>C (p.Gly2027Arg) c.6979G>C (p.Gly2327Arg) c.6901G>C (p.Gly2301Arg) c.6877G>C (p.Gly2293Arg) c.6874G>C (p.Gly2292Arg) | |
X | g.154350990C>T | CA415185132 | FLNA | c.7051G>A (p.Gly2351Arg) c.7075G>A (p.Gly2359Arg) c.6994G>A (p.Gly2332Arg) c.3856G>A (p.Gly1286Arg) c.7132G>A (n.7132G>A) c.280-2300G>A c.7354G>A (n.7354G>A) n.2793G>A c.6955G>A (p.Gly2319Arg) c.7031G>A (n.7031G>A) n.3603G>A n.67+1827G>A n.116G>A c.6079G>A (p.Gly2027Arg) c.6979G>A (p.Gly2327Arg) c.6901G>A (p.Gly2301Arg) c.6877G>A (p.Gly2293Arg) c.6874G>A (p.Gly2292Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.154350991G>A | CA10559959 | FLNA | c.7050C>T (p.Asn2350=) c.7074C>T (p.Asn2358=) c.6993C>T (p.Asn2331=) c.3855C>T (p.Asn1285=) c.7131C>T (n.7131C>T) c.280-2301C>T c.7353C>T (n.7353C>T) n.2792C>T c.6954C>T (p.Asn2318=) c.7030C>T (n.7030C>T) n.3602C>T n.67+1826C>T n.115C>T c.6078C>T (p.Asn2026=) c.6978C>T (p.Asn2326=) c.6900C>T (p.Asn2300=) c.6876C>T (p.Asn2292=) c.6873C>T (p.Asn2291=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.154350991G>C | CA415185140 | FLNA | c.7050C>G (p.Asn2350Lys) c.7074C>G (p.Asn2358Lys) c.6993C>G (p.Asn2331Lys) c.3855C>G (p.Asn1285Lys) c.7131C>G (n.7131C>G) c.280-2301C>G c.7353C>G (n.7353C>G) n.2792C>G c.6954C>G (p.Asn2318Lys) c.7030C>G (n.7030C>G) n.3602C>G n.67+1826C>G n.115C>G c.6078C>G (p.Asn2026Lys) c.6978C>G (p.Asn2326Lys) c.6900C>G (p.Asn2300Lys) c.6876C>G (p.Asn2292Lys) c.6873C>G (p.Asn2291Lys) | |
X | g.154350991G= | CA2466652382 | FLNA | c.7050C= (p.Asn2350=) c.7074C= (p.Asn2358=) c.6993C= (p.Asn2331=) c.3855C= (p.Asn1285=) c.7131C= (n.7131C=) c.280-2301C= c.7353C= (n.7353C=) n.2792C= c.6954C= (p.Asn2318=) c.7030C= (n.7030C=) n.3602C= n.67+1826C= n.115C= c.6078C= (p.Asn2026=) c.6978C= (p.Asn2326=) c.6900C= (p.Asn2300=) c.6876C= (p.Asn2292=) c.6873C= (p.Asn2291=) | |
X | g.154350991G>T | CA415185142 | FLNA | c.7050C>A (p.Asn2350Lys) c.7074C>A (p.Asn2358Lys) c.6993C>A (p.Asn2331Lys) c.3855C>A (p.Asn1285Lys) c.7131C>A (n.7131C>A) c.280-2301C>A c.7353C>A (n.7353C>A) n.2792C>A c.6954C>A (p.Asn2318Lys) c.7030C>A (n.7030C>A) n.3602C>A n.67+1826C>A n.115C>A c.6078C>A (p.Asn2026Lys) c.6978C>A (p.Asn2326Lys) c.6900C>A (p.Asn2300Lys) c.6876C>A (p.Asn2292Lys) c.6873C>A (p.Asn2291Lys) | |
X | g.154350992T>A | CA415185143 | FLNA | c.7049A>T (p.Asn2350Ile) c.7073A>T (p.Asn2358Ile) c.6992A>T (p.Asn2331Ile) c.3854A>T (p.Asn1285Ile) c.7130A>T (n.7130A>T) c.280-2302A>T c.7352A>T (n.7352A>T) n.2791A>T c.6953A>T (p.Asn2318Ile) c.7029A>T (n.7029A>T) n.3601A>T n.67+1825A>T n.114A>T c.6077A>T (p.Asn2026Ile) c.6977A>T (p.Asn2326Ile) c.6899A>T (p.Asn2300Ile) c.6875A>T (p.Asn2292Ile) c.6872A>T (p.Asn2291Ile) | |
X | g.154350992T>C | CA415185145 | FLNA | c.7049A>G (p.Asn2350Ser) c.7073A>G (p.Asn2358Ser) c.6992A>G (p.Asn2331Ser) c.3854A>G (p.Asn1285Ser) c.7130A>G (n.7130A>G) c.280-2302A>G c.7352A>G (n.7352A>G) n.2791A>G c.6953A>G (p.Asn2318Ser) c.7029A>G (n.7029A>G) n.3601A>G n.67+1825A>G n.114A>G c.6077A>G (p.Asn2026Ser) c.6977A>G (p.Asn2326Ser) c.6899A>G (p.Asn2300Ser) c.6875A>G (p.Asn2292Ser) c.6872A>G (p.Asn2291Ser) | |
X | g.154350992T>G | CA415185147 | FLNA | c.7049A>C (p.Asn2350Thr) c.7073A>C (p.Asn2358Thr) c.6992A>C (p.Asn2331Thr) c.3854A>C (p.Asn1285Thr) c.7130A>C (n.7130A>C) c.280-2302A>C c.7352A>C (n.7352A>C) n.2791A>C c.6953A>C (p.Asn2318Thr) c.7029A>C (n.7029A>C) n.3601A>C n.67+1825A>C n.114A>C c.6077A>C (p.Asn2026Thr) c.6977A>C (p.Asn2326Thr) c.6899A>C (p.Asn2300Thr) c.6875A>C (p.Asn2292Thr) c.6872A>C (p.Asn2291Thr) | |
X | g.154350993T>A | CA415185149 | FLNA | c.7048A>T (p.Asn2350Tyr) c.7072A>T (p.Asn2358Tyr) c.6991A>T (p.Asn2331Tyr) c.3853A>T (p.Asn1285Tyr) c.7129A>T (n.7129A>T) c.280-2303A>T c.7351A>T (n.7351A>T) n.2790A>T c.6952A>T (p.Asn2318Tyr) c.7028A>T (n.7028A>T) n.3600A>T n.67+1824A>T n.113A>T c.6076A>T (p.Asn2026Tyr) c.6976A>T (p.Asn2326Tyr) c.6898A>T (p.Asn2300Tyr) c.6874A>T (p.Asn2292Tyr) c.6871A>T (p.Asn2291Tyr) | |
X | g.154350993T>C | CA415185151 | FLNA | c.7048A>G (p.Asn2350Asp) c.7072A>G (p.Asn2358Asp) c.6991A>G (p.Asn2331Asp) c.3853A>G (p.Asn1285Asp) c.7129A>G (n.7129A>G) c.280-2303A>G c.7351A>G (n.7351A>G) n.2790A>G c.6952A>G (p.Asn2318Asp) c.7028A>G (n.7028A>G) n.3600A>G n.67+1824A>G n.113A>G c.6076A>G (p.Asn2026Asp) c.6976A>G (p.Asn2326Asp) c.6898A>G (p.Asn2300Asp) c.6874A>G (p.Asn2292Asp) c.6871A>G (p.Asn2291Asp) | |
X | g.154350993T>G | CA415185153 | FLNA | c.7048A>C (p.Asn2350His) c.7072A>C (p.Asn2358His) c.6991A>C (p.Asn2331His) c.3853A>C (p.Asn1285His) c.7129A>C (n.7129A>C) c.280-2303A>C c.7351A>C (n.7351A>C) n.2790A>C c.6952A>C (p.Asn2318His) c.7028A>C (n.7028A>C) n.3600A>C n.67+1824A>C n.113A>C c.6076A>C (p.Asn2026His) c.6976A>C (p.Asn2326His) c.6898A>C (p.Asn2300His) c.6874A>C (p.Asn2292His) c.6871A>C (p.Asn2291His) | |
X | g.154350994C>A | CA519276546 | FLNA | c.7047G>T (p.Leu2349=) c.7071G>T (p.Leu2357=) c.6990G>T (p.Leu2330=) c.3852G>T (p.Leu1284=) c.7128G>T (n.7128G>T) c.280-2304G>T c.7350G>T (n.7350G>T) n.2789G>T c.6951G>T (p.Leu2317=) c.7027G>T (n.7027G>T) n.3599G>T n.67+1823G>T n.112G>T c.6075G>T (p.Leu2025=) c.6975G>T (p.Leu2325=) c.6897G>T (p.Leu2299=) c.6873G>T (p.Leu2291=) c.6870G>T (p.Leu2290=) | |
X | g.154350994C>G | CA519276547 | FLNA | c.7047G>C (p.Leu2349=) c.7071G>C (p.Leu2357=) c.6990G>C (p.Leu2330=) c.3852G>C (p.Leu1284=) c.7128G>C (n.7128G>C) c.280-2304G>C c.7350G>C (n.7350G>C) n.2789G>C c.6951G>C (p.Leu2317=) c.7027G>C (n.7027G>C) n.3599G>C n.67+1823G>C n.112G>C c.6075G>C (p.Leu2025=) c.6975G>C (p.Leu2325=) c.6897G>C (p.Leu2299=) c.6873G>C (p.Leu2291=) c.6870G>C (p.Leu2290=) | |
X | g.154350994C>T | CA519276548 | FLNA | c.7047G>A (p.Leu2349=) c.7071G>A (p.Leu2357=) c.6990G>A (p.Leu2330=) c.3852G>A (p.Leu1284=) c.7128G>A (n.7128G>A) c.280-2304G>A c.7350G>A (n.7350G>A) n.2789G>A c.6951G>A (p.Leu2317=) c.7027G>A (n.7027G>A) n.3599G>A n.67+1823G>A n.112G>A c.6075G>A (p.Leu2025=) c.6975G>A (p.Leu2325=) c.6897G>A (p.Leu2299=) c.6873G>A (p.Leu2291=) c.6870G>A (p.Leu2290=) | |
X | g.154350995A>C | CA415185156 | FLNA | c.7046T>G (p.Leu2349Arg) c.7070T>G (p.Leu2357Arg) c.6989T>G (p.Leu2330Arg) c.3851T>G (p.Leu1284Arg) c.7127T>G (n.7127T>G) c.280-2305T>G c.7349T>G (n.7349T>G) n.2788T>G c.6950T>G (p.Leu2317Arg) c.7026T>G (n.7026T>G) n.3598T>G n.67+1822T>G n.111T>G c.6074T>G (p.Leu2025Arg) c.6974T>G (p.Leu2325Arg) c.6896T>G (p.Leu2299Arg) c.6872T>G (p.Leu2291Arg) c.6869T>G (p.Leu2290Arg) | |
X | g.154350995A>G | CA415185157 | FLNA | c.7046T>C (p.Leu2349Pro) c.7070T>C (p.Leu2357Pro) c.6989T>C (p.Leu2330Pro) c.3851T>C (p.Leu1284Pro) c.7127T>C (n.7127T>C) c.280-2305T>C c.7349T>C (n.7349T>C) n.2788T>C c.6950T>C (p.Leu2317Pro) c.7026T>C (n.7026T>C) n.3598T>C n.67+1822T>C n.111T>C c.6074T>C (p.Leu2025Pro) c.6974T>C (p.Leu2325Pro) c.6896T>C (p.Leu2299Pro) c.6872T>C (p.Leu2291Pro) c.6869T>C (p.Leu2290Pro) | |
X | g.154350995A>T | CA415185159 | FLNA | c.7046T>A (p.Leu2349Gln) c.7070T>A (p.Leu2357Gln) c.6989T>A (p.Leu2330Gln) c.3851T>A (p.Leu1284Gln) c.7127T>A (n.7127T>A) c.280-2305T>A c.7349T>A (n.7349T>A) n.2788T>A c.6950T>A (p.Leu2317Gln) c.7026T>A (n.7026T>A) n.3598T>A n.67+1822T>A n.111T>A c.6074T>A (p.Leu2025Gln) c.6974T>A (p.Leu2325Gln) c.6896T>A (p.Leu2299Gln) c.6872T>A (p.Leu2291Gln) c.6869T>A (p.Leu2290Gln) | |
X | g.154351001_154351016del | CA2695237769 | FLNA | c.7031_7046del (p.Ser2344Ter) c.7055_7070del (p.Ser2352Ter) c.6974_6989del (p.Ser2325Ter) c.3836_3851del (p.Ser1279Ter) c.7112_7127del (n.7112_7127del) c.280-2320_280-2305del c.7334_7349del (n.7334_7349del) n.2773_2788del c.6935_6950del (p.Ser2312Ter) c.7011_7026del (n.7011_7026del) n.3583_3598del n.67+1807_67+1822del n.96_111del c.6059_6074del (p.Ser2020Ter) c.6959_6974del (p.Ser2320Ter) c.6881_6896del (p.Ser2294Ter) c.6857_6872del (p.Ser2286Ter) c.6854_6869del (p.Ser2285Ter) | |
X | g.154350996G>A | CA519276549 | FLNA | c.7045C>T (p.Leu2349=) c.7069C>T (p.Leu2357=) c.6988C>T (p.Leu2330=) c.3850C>T (p.Leu1284=) c.7126C>T (n.7126C>T) c.280-2306C>T c.7348C>T (n.7348C>T) n.2787C>T c.6949C>T (p.Leu2317=) c.7025C>T (n.7025C>T) n.3597C>T n.67+1821C>T n.110C>T c.6073C>T (p.Leu2025=) c.6973C>T (p.Leu2325=) c.6895C>T (p.Leu2299=) c.6871C>T (p.Leu2291=) c.6868C>T (p.Leu2290=) | |
X | g.154350996G>C | CA415185162 | FLNA | c.7045C>G (p.Leu2349Val) c.7069C>G (p.Leu2357Val) c.6988C>G (p.Leu2330Val) c.3850C>G (p.Leu1284Val) c.7126C>G (n.7126C>G) c.280-2306C>G c.7348C>G (n.7348C>G) n.2787C>G c.6949C>G (p.Leu2317Val) c.7025C>G (n.7025C>G) n.3597C>G n.67+1821C>G n.110C>G c.6073C>G (p.Leu2025Val) c.6973C>G (p.Leu2325Val) c.6895C>G (p.Leu2299Val) c.6871C>G (p.Leu2291Val) c.6868C>G (p.Leu2290Val) | |
X | g.154350996G>T | CA415185164 | FLNA | c.7045C>A (p.Leu2349Met) c.7069C>A (p.Leu2357Met) c.6988C>A (p.Leu2330Met) c.3850C>A (p.Leu1284Met) c.7126C>A (n.7126C>A) c.280-2306C>A c.7348C>A (n.7348C>A) n.2787C>A c.6949C>A (p.Leu2317Met) c.7025C>A (n.7025C>A) n.3597C>A n.67+1821C>A n.110C>A c.6073C>A (p.Leu2025Met) c.6973C>A (p.Leu2325Met) c.6895C>A (p.Leu2299Met) c.6871C>A (p.Leu2291Met) c.6868C>A (p.Leu2290Met) | |
X | g.154350997G>A | CA519276550 | FLNA | c.7044C>T (p.Ser2348=) c.7068C>T (p.Ser2356=) c.6987C>T (p.Ser2329=) c.3849C>T (p.Ser1283=) c.7125C>T (n.7125C>T) c.280-2307C>T c.7347C>T (n.7347C>T) n.2786C>T c.6948C>T (p.Ser2316=) c.7024C>T (n.7024C>T) n.3596C>T n.67+1820C>T n.109C>T c.6072C>T (p.Ser2024=) c.6972C>T (p.Ser2324=) c.6894C>T (p.Ser2298=) c.6870C>T (p.Ser2290=) c.6867C>T (p.Ser2289=) | ClinVar dbSNP |
X | g.154350997G>C | CA415185166 | FLNA | c.7044C>G (p.Ser2348Arg) c.7068C>G (p.Ser2356Arg) c.6987C>G (p.Ser2329Arg) c.3849C>G (p.Ser1283Arg) c.7125C>G (n.7125C>G) c.280-2307C>G c.7347C>G (n.7347C>G) n.2786C>G c.6948C>G (p.Ser2316Arg) c.7024C>G (n.7024C>G) n.3596C>G n.67+1820C>G n.109C>G c.6072C>G (p.Ser2024Arg) c.6972C>G (p.Ser2324Arg) c.6894C>G (p.Ser2298Arg) c.6870C>G (p.Ser2290Arg) c.6867C>G (p.Ser2289Arg) | |
X | g.154350997G= | CA2466652383 | FLNA | c.7044C= (p.Ser2348=) c.7068C= (p.Ser2356=) c.6987C= (p.Ser2329=) c.3849C= (p.Ser1283=) c.7125C= (n.7125C=) c.280-2307C= c.7347C= (n.7347C=) n.2786C= c.6948C= (p.Ser2316=) c.7024C= (n.7024C=) n.3596C= n.67+1820C= n.109C= c.6072C= (p.Ser2024=) c.6972C= (p.Ser2324=) c.6894C= (p.Ser2298=) c.6870C= (p.Ser2290=) c.6867C= (p.Ser2289=) | |
X | g.154350997G>T | CA415185168 | FLNA | c.7044C>A (p.Ser2348Arg) c.7068C>A (p.Ser2356Arg) c.6987C>A (p.Ser2329Arg) c.3849C>A (p.Ser1283Arg) c.7125C>A (n.7125C>A) c.280-2307C>A c.7347C>A (n.7347C>A) n.2786C>A c.6948C>A (p.Ser2316Arg) c.7024C>A (n.7024C>A) n.3596C>A n.67+1820C>A n.109C>A c.6072C>A (p.Ser2024Arg) c.6972C>A (p.Ser2324Arg) c.6894C>A (p.Ser2298Arg) c.6870C>A (p.Ser2290Arg) c.6867C>A (p.Ser2289Arg) | |
X | g.154350998C>A | CA415185171 | FLNA | c.7043G>T (p.Ser2348Ile) c.7067G>T (p.Ser2356Ile) c.6986G>T (p.Ser2329Ile) c.3848G>T (p.Ser1283Ile) c.7124G>T (n.7124G>T) c.280-2308G>T c.7346G>T (n.7346G>T) n.2785G>T c.6947G>T (p.Ser2316Ile) c.7023G>T (n.7023G>T) n.3595G>T n.67+1819G>T n.108G>T c.6071G>T (p.Ser2024Ile) c.6971G>T (p.Ser2324Ile) c.6893G>T (p.Ser2298Ile) c.6869G>T (p.Ser2290Ile) c.6866G>T (p.Ser2289Ile) | |
X | g.154350998C= | CA2466652384 | FLNA | c.7043G= (p.Ser2348=) c.7067G= (p.Ser2356=) c.6986G= (p.Ser2329=) c.3848G= (p.Ser1283=) c.7124G= (n.7124G=) c.280-2308G= c.7346G= (n.7346G=) n.2785G= c.6947G= (p.Ser2316=) c.7023G= (n.7023G=) n.3595G= n.67+1819G= n.108G= c.6071G= (p.Ser2024=) c.6971G= (p.Ser2324=) c.6893G= (p.Ser2298=) c.6869G= (p.Ser2290=) c.6866G= (p.Ser2289=) | |
X | g.154350998C>G | CA415185172 | FLNA | c.7043G>C (p.Ser2348Thr) c.7067G>C (p.Ser2356Thr) c.6986G>C (p.Ser2329Thr) c.3848G>C (p.Ser1283Thr) c.7124G>C (n.7124G>C) c.280-2308G>C c.7346G>C (n.7346G>C) n.2785G>C c.6947G>C (p.Ser2316Thr) c.7023G>C (n.7023G>C) n.3595G>C n.67+1819G>C n.108G>C c.6071G>C (p.Ser2024Thr) c.6971G>C (p.Ser2324Thr) c.6893G>C (p.Ser2298Thr) c.6869G>C (p.Ser2290Thr) c.6866G>C (p.Ser2289Thr) | |
X | g.154350998C>T | CA323932 | FLNA | c.7043G>A (p.Ser2348Asn) c.7067G>A (p.Ser2356Asn) c.6986G>A (p.Ser2329Asn) c.3848G>A (p.Ser1283Asn) c.7124G>A (n.7124G>A) c.280-2308G>A c.7346G>A (n.7346G>A) n.2785G>A c.6947G>A (p.Ser2316Asn) c.7023G>A (n.7023G>A) n.3595G>A n.67+1819G>A n.108G>A c.6071G>A (p.Ser2024Asn) c.6971G>A (p.Ser2324Asn) c.6893G>A (p.Ser2298Asn) c.6869G>A (p.Ser2290Asn) c.6866G>A (p.Ser2289Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.154350999T>A | CA415185176 | FLNA | c.7042A>T (p.Ser2348Cys) c.7066A>T (p.Ser2356Cys) c.6985A>T (p.Ser2329Cys) c.3847A>T (p.Ser1283Cys) c.7123A>T (n.7123A>T) c.280-2309A>T c.7345A>T (n.7345A>T) n.2784A>T c.6946A>T (p.Ser2316Cys) c.7022A>T (n.7022A>T) n.3594A>T n.67+1818A>T n.107A>T c.6070A>T (p.Ser2024Cys) c.6970A>T (p.Ser2324Cys) c.6892A>T (p.Ser2298Cys) c.6868A>T (p.Ser2290Cys) c.6865A>T (p.Ser2289Cys) | |
X | g.154350999T>C | CA415185177 | FLNA | c.7042A>G (p.Ser2348Gly) c.7066A>G (p.Ser2356Gly) c.6985A>G (p.Ser2329Gly) c.3847A>G (p.Ser1283Gly) c.7123A>G (n.7123A>G) c.280-2309A>G c.7345A>G (n.7345A>G) n.2784A>G c.6946A>G (p.Ser2316Gly) c.7022A>G (n.7022A>G) n.3594A>G n.67+1818A>G n.107A>G c.6070A>G (p.Ser2024Gly) c.6970A>G (p.Ser2324Gly) c.6892A>G (p.Ser2298Gly) c.6868A>G (p.Ser2290Gly) c.6865A>G (p.Ser2289Gly) | gnomAD v4 |
X | g.154350999T>G | CA10559960 | FLNA | c.7042A>C (p.Ser2348Arg) c.7066A>C (p.Ser2356Arg) c.6985A>C (p.Ser2329Arg) c.3847A>C (p.Ser1283Arg) c.7123A>C (n.7123A>C) c.280-2309A>C c.7345A>C (n.7345A>C) n.2784A>C c.6946A>C (p.Ser2316Arg) c.7022A>C (n.7022A>C) n.3594A>C n.67+1818A>C n.107A>C c.6070A>C (p.Ser2024Arg) c.6970A>C (p.Ser2324Arg) c.6892A>C (p.Ser2298Arg) c.6868A>C (p.Ser2290Arg) c.6865A>C (p.Ser2289Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.154350999T= | CA2466652385 | FLNA | c.7042A= (p.Ser2348=) c.7066A= (p.Ser2356=) c.6985A= (p.Ser2329=) c.3847A= (p.Ser1283=) c.7123A= (n.7123A=) c.280-2309A= c.7345A= (n.7345A=) n.2784A= c.6946A= (p.Ser2316=) c.7022A= (n.7022A=) n.3594A= n.67+1818A= n.107A= c.6070A= (p.Ser2024=) c.6970A= (p.Ser2324=) c.6892A= (p.Ser2298=) c.6868A= (p.Ser2290=) c.6865A= (p.Ser2289=) | |
X | g.154351000G>A | CA519276551 | FLNA | c.7041C>T (p.Val2347=) c.7065C>T (p.Val2355=) c.6984C>T (p.Val2328=) c.3846C>T (p.Val1282=) c.7122C>T (n.7122C>T) c.280-2310C>T c.7344C>T (n.7344C>T) n.2783C>T c.6945C>T (p.Val2315=) c.7021C>T (n.7021C>T) n.3593C>T n.67+1817C>T n.106C>T c.6069C>T (p.Val2023=) c.6969C>T (p.Val2323=) c.6891C>T (p.Val2297=) c.6867C>T (p.Val2289=) c.6864C>T (p.Val2288=) | |
X | g.154351000G>C | CA519276552 | FLNA | c.7041C>G (p.Val2347=) c.7065C>G (p.Val2355=) c.6984C>G (p.Val2328=) c.3846C>G (p.Val1282=) c.7122C>G (n.7122C>G) c.280-2310C>G c.7344C>G (n.7344C>G) n.2783C>G c.6945C>G (p.Val2315=) c.7021C>G (n.7021C>G) n.3593C>G n.67+1817C>G n.106C>G c.6069C>G (p.Val2023=) c.6969C>G (p.Val2323=) c.6891C>G (p.Val2297=) c.6867C>G (p.Val2289=) c.6864C>G (p.Val2288=) | |
X | g.154351000G>T | CA519276553 | FLNA | c.7041C>A (p.Val2347=) c.7065C>A (p.Val2355=) c.6984C>A (p.Val2328=) c.3846C>A (p.Val1282=) c.7122C>A (n.7122C>A) c.280-2310C>A c.7344C>A (n.7344C>A) n.2783C>A c.6945C>A (p.Val2315=) c.7021C>A (n.7021C>A) n.3593C>A n.67+1817C>A n.106C>A c.6069C>A (p.Val2023=) c.6969C>A (p.Val2323=) c.6891C>A (p.Val2297=) c.6867C>A (p.Val2289=) c.6864C>A (p.Val2288=) | gnomAD v4 COSMIC COSMIC |
X | g.154351001A>C | CA415185180 | FLNA | c.7040T>G (p.Val2347Gly) c.7064T>G (p.Val2355Gly) c.6983T>G (p.Val2328Gly) c.3845T>G (p.Val1282Gly) c.7121T>G (n.7121T>G) c.280-2311T>G c.7343T>G (n.7343T>G) n.2782T>G c.6944T>G (p.Val2315Gly) c.7020T>G (n.7020T>G) n.3592T>G n.67+1816T>G n.105T>G c.6068T>G (p.Val2023Gly) c.6968T>G (p.Val2323Gly) c.6890T>G (p.Val2297Gly) c.6866T>G (p.Val2289Gly) c.6863T>G (p.Val2288Gly) | |
X | g.154351001A>G | CA415185181 | FLNA | c.7040T>C (p.Val2347Ala) c.7064T>C (p.Val2355Ala) c.6983T>C (p.Val2328Ala) c.3845T>C (p.Val1282Ala) c.7121T>C (n.7121T>C) c.280-2311T>C c.7343T>C (n.7343T>C) n.2782T>C c.6944T>C (p.Val2315Ala) c.7020T>C (n.7020T>C) n.3592T>C n.67+1816T>C n.105T>C c.6068T>C (p.Val2023Ala) c.6968T>C (p.Val2323Ala) c.6890T>C (p.Val2297Ala) c.6866T>C (p.Val2289Ala) c.6863T>C (p.Val2288Ala) | |
X | g.154351001A>T | CA415185182 | FLNA | c.7040T>A (p.Val2347Asp) c.7064T>A (p.Val2355Asp) c.6983T>A (p.Val2328Asp) c.3845T>A (p.Val1282Asp) c.7121T>A (n.7121T>A) c.280-2311T>A c.7343T>A (n.7343T>A) n.2782T>A c.6944T>A (p.Val2315Asp) c.7020T>A (n.7020T>A) n.3592T>A n.67+1816T>A n.105T>A c.6068T>A (p.Val2023Asp) c.6968T>A (p.Val2323Asp) c.6890T>A (p.Val2297Asp) c.6866T>A (p.Val2289Asp) c.6863T>A (p.Val2288Asp) | |
X | g.154351002C>A | CA415185187 | FLNA | c.7039G>T (p.Val2347Phe) c.7063G>T (p.Val2355Phe) c.6982G>T (p.Val2328Phe) c.3844G>T (p.Val1282Phe) c.7120G>T (n.7120G>T) c.280-2312G>T c.7342G>T (n.7342G>T) n.2781G>T c.6943G>T (p.Val2315Phe) c.7019G>T (n.7019G>T) n.3591G>T n.67+1815G>T n.104G>T c.6067G>T (p.Val2023Phe) c.6967G>T (p.Val2323Phe) c.6889G>T (p.Val2297Phe) c.6865G>T (p.Val2289Phe) c.6862G>T (p.Val2288Phe) | |
X | g.154351002C>G | CA415185189 | FLNA | c.7039G>C (p.Val2347Leu) c.7063G>C (p.Val2355Leu) c.6982G>C (p.Val2328Leu) c.3844G>C (p.Val1282Leu) c.7120G>C (n.7120G>C) c.280-2312G>C c.7342G>C (n.7342G>C) n.2781G>C c.6943G>C (p.Val2315Leu) c.7019G>C (n.7019G>C) n.3591G>C n.67+1815G>C n.104G>C c.6067G>C (p.Val2023Leu) c.6967G>C (p.Val2323Leu) c.6889G>C (p.Val2297Leu) c.6865G>C (p.Val2289Leu) c.6862G>C (p.Val2288Leu) | |
X | g.154351002C>T | CA415185185 | FLNA | c.7039G>A (p.Val2347Ile) c.7063G>A (p.Val2355Ile) c.6982G>A (p.Val2328Ile) c.3844G>A (p.Val1282Ile) c.7120G>A (n.7120G>A) c.280-2312G>A c.7342G>A (n.7342G>A) n.2781G>A c.6943G>A (p.Val2315Ile) c.7019G>A (n.7019G>A) n.3591G>A n.67+1815G>A n.104G>A c.6067G>A (p.Val2023Ile) c.6967G>A (p.Val2323Ile) c.6889G>A (p.Val2297Ile) c.6865G>A (p.Val2289Ile) c.6862G>A (p.Val2288Ile) | |
X | g.154351003T>A | CA519276554 | FLNA | c.7038A>T (p.Ala2346=) c.7062A>T (p.Ala2354=) c.6981A>T (p.Ala2327=) c.3843A>T (p.Ala1281=) c.7119A>T (n.7119A>T) c.280-2313A>T c.7341A>T (n.7341A>T) n.2780A>T c.6942A>T (p.Ala2314=) c.7018A>T (n.7018A>T) n.3590A>T n.67+1814A>T n.103A>T c.6066A>T (p.Ala2022=) c.6966A>T (p.Ala2322=) c.6888A>T (p.Ala2296=) c.6864A>T (p.Ala2288=) c.6861A>T (p.Ala2287=) | |
X | g.154351003T>C | CA519276555 | FLNA | c.7038A>G (p.Ala2346=) c.7062A>G (p.Ala2354=) c.6981A>G (p.Ala2327=) c.3843A>G (p.Ala1281=) c.7119A>G (n.7119A>G) c.280-2313A>G c.7341A>G (n.7341A>G) n.2780A>G c.6942A>G (p.Ala2314=) c.7018A>G (n.7018A>G) n.3590A>G n.67+1814A>G n.103A>G c.6066A>G (p.Ala2022=) c.6966A>G (p.Ala2322=) c.6888A>G (p.Ala2296=) c.6864A>G (p.Ala2288=) c.6861A>G (p.Ala2287=) | COSMIC COSMIC |
X | g.154351003T>G | CA519276556 | FLNA | c.7038A>C (p.Ala2346=) c.7062A>C (p.Ala2354=) c.6981A>C (p.Ala2327=) c.3843A>C (p.Ala1281=) c.7119A>C (n.7119A>C) c.280-2313A>C c.7341A>C (n.7341A>C) n.2780A>C c.6942A>C (p.Ala2314=) c.7018A>C (n.7018A>C) n.3590A>C n.67+1814A>C n.103A>C c.6066A>C (p.Ala2022=) c.6966A>C (p.Ala2322=) c.6888A>C (p.Ala2296=) c.6864A>C (p.Ala2288=) c.6861A>C (p.Ala2287=) | dbSNP gnomAD v2 |
X | g.154351003T= | CA2466652386 | FLNA | c.7038A= (p.Ala2346=) c.7062A= (p.Ala2354=) c.6981A= (p.Ala2327=) c.3843A= (p.Ala1281=) c.7119A= (n.7119A=) c.280-2313A= c.7341A= (n.7341A=) n.2780A= c.6942A= (p.Ala2314=) c.7018A= (n.7018A=) n.3590A= n.67+1814A= n.103A= c.6066A= (p.Ala2022=) c.6966A= (p.Ala2322=) c.6888A= (p.Ala2296=) c.6864A= (p.Ala2288=) c.6861A= (p.Ala2287=) | |
X | g.154351004G>A | CA415185193 | FLNA | c.7037C>T (p.Ala2346Val) c.7061C>T (p.Ala2354Val) c.6980C>T (p.Ala2327Val) c.3842C>T (p.Ala1281Val) c.7118C>T (n.7118C>T) c.280-2314C>T c.7340C>T (n.7340C>T) n.2779C>T c.6941C>T (p.Ala2314Val) c.7017C>T (n.7017C>T) n.3589C>T n.67+1813C>T n.102C>T c.6065C>T (p.Ala2022Val) c.6965C>T (p.Ala2322Val) c.6887C>T (p.Ala2296Val) c.6863C>T (p.Ala2288Val) c.6860C>T (p.Ala2287Val) | |
X | g.154351004G>C | CA415185192 | FLNA | c.7037C>G (p.Ala2346Gly) c.7061C>G (p.Ala2354Gly) c.6980C>G (p.Ala2327Gly) c.3842C>G (p.Ala1281Gly) c.7118C>G (n.7118C>G) c.280-2314C>G c.7340C>G (n.7340C>G) n.2779C>G c.6941C>G (p.Ala2314Gly) c.7017C>G (n.7017C>G) n.3589C>G n.67+1813C>G n.102C>G c.6065C>G (p.Ala2022Gly) c.6965C>G (p.Ala2322Gly) c.6887C>G (p.Ala2296Gly) c.6863C>G (p.Ala2288Gly) c.6860C>G (p.Ala2287Gly) | |
X | g.154351004G>T | CA415185195 | FLNA | c.7037C>A (p.Ala2346Glu) c.7061C>A (p.Ala2354Glu) c.6980C>A (p.Ala2327Glu) c.3842C>A (p.Ala1281Glu) c.7118C>A (n.7118C>A) c.280-2314C>A c.7340C>A (n.7340C>A) n.2779C>A c.6941C>A (p.Ala2314Glu) c.7017C>A (n.7017C>A) n.3589C>A n.67+1813C>A n.102C>A c.6065C>A (p.Ala2022Glu) c.6965C>A (p.Ala2322Glu) c.6887C>A (p.Ala2296Glu) c.6863C>A (p.Ala2288Glu) c.6860C>A (p.Ala2287Glu) | |
X | g.154351005C>A | CA415185197 | FLNA | c.7036G>T (p.Ala2346Ser) c.7060G>T (p.Ala2354Ser) c.6979G>T (p.Ala2327Ser) c.3841G>T (p.Ala1281Ser) c.7117G>T (n.7117G>T) c.280-2315G>T c.7339G>T (n.7339G>T) n.2778G>T c.6940G>T (p.Ala2314Ser) c.7016G>T (n.7016G>T) n.3588G>T n.67+1812G>T n.101G>T c.6064G>T (p.Ala2022Ser) c.6964G>T (p.Ala2322Ser) c.6886G>T (p.Ala2296Ser) c.6862G>T (p.Ala2288Ser) c.6859G>T (p.Ala2287Ser) | |
X | g.154351005C>G | CA415185199 | FLNA | c.7036G>C (p.Ala2346Pro) c.7060G>C (p.Ala2354Pro) c.6979G>C (p.Ala2327Pro) c.3841G>C (p.Ala1281Pro) c.7117G>C (n.7117G>C) c.280-2315G>C c.7339G>C (n.7339G>C) n.2778G>C c.6940G>C (p.Ala2314Pro) c.7016G>C (n.7016G>C) n.3588G>C n.67+1812G>C n.101G>C c.6064G>C (p.Ala2022Pro) c.6964G>C (p.Ala2322Pro) c.6886G>C (p.Ala2296Pro) c.6862G>C (p.Ala2288Pro) c.6859G>C (p.Ala2287Pro) | |
X | g.154351005C>T | CA415185201 | FLNA | c.7036G>A (p.Ala2346Thr) c.7060G>A (p.Ala2354Thr) c.6979G>A (p.Ala2327Thr) c.3841G>A (p.Ala1281Thr) c.7117G>A (n.7117G>A) c.280-2315G>A c.7339G>A (n.7339G>A) n.2778G>A c.6940G>A (p.Ala2314Thr) c.7016G>A (n.7016G>A) n.3588G>A n.67+1812G>A n.101G>A c.6064G>A (p.Ala2022Thr) c.6964G>A (p.Ala2322Thr) c.6886G>A (p.Ala2296Thr) c.6862G>A (p.Ala2288Thr) c.6859G>A (p.Ala2287Thr) | gnomAD v4 |
X | g.154351006A= | CA2466652387 | FLNA | c.7035T= (p.Phe2345=) c.7059T= (p.Phe2353=) c.6978T= (p.Phe2326=) c.3840T= (p.Phe1280=) c.7116T= (n.7116T=) c.280-2316T= c.7338T= (n.7338T=) n.2777T= c.6939T= (p.Phe2313=) c.7015T= (n.7015T=) n.3587T= n.67+1811T= n.100T= c.6063T= (p.Phe2021=) c.6963T= (p.Phe2321=) c.6885T= (p.Phe2295=) c.6861T= (p.Phe2287=) c.6858T= (p.Phe2286=) | |
X | g.154351006A>C | CA348410 | FLNA | c.7035T>G (p.Phe2345Leu) c.7059T>G (p.Phe2353Leu) c.6978T>G (p.Phe2326Leu) c.3840T>G (p.Phe1280Leu) c.7116T>G (n.7116T>G) c.280-2316T>G c.7338T>G (n.7338T>G) n.2777T>G c.6939T>G (p.Phe2313Leu) c.7015T>G (n.7015T>G) n.3587T>G n.67+1811T>G n.100T>G c.6063T>G (p.Phe2021Leu) c.6963T>G (p.Phe2321Leu) c.6885T>G (p.Phe2295Leu) c.6861T>G (p.Phe2287Leu) c.6858T>G (p.Phe2286Leu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.154351006A>G | CA519276557 | FLNA | c.7035T>C (p.Phe2345=) c.7059T>C (p.Phe2353=) c.6978T>C (p.Phe2326=) c.3840T>C (p.Phe1280=) c.7116T>C (n.7116T>C) c.280-2316T>C c.7338T>C (n.7338T>C) n.2777T>C c.6939T>C (p.Phe2313=) c.7015T>C (n.7015T>C) n.3587T>C n.67+1811T>C n.100T>C c.6063T>C (p.Phe2021=) c.6963T>C (p.Phe2321=) c.6885T>C (p.Phe2295=) c.6861T>C (p.Phe2287=) c.6858T>C (p.Phe2286=) | |
X | g.154351006A>T | CA415185204 | FLNA | c.7035T>A (p.Phe2345Leu) c.7059T>A (p.Phe2353Leu) c.6978T>A (p.Phe2326Leu) c.3840T>A (p.Phe1280Leu) c.7116T>A (n.7116T>A) c.280-2316T>A c.7338T>A (n.7338T>A) n.2777T>A c.6939T>A (p.Phe2313Leu) c.7015T>A (n.7015T>A) n.3587T>A n.67+1811T>A n.100T>A c.6063T>A (p.Phe2021Leu) c.6963T>A (p.Phe2321Leu) c.6885T>A (p.Phe2295Leu) c.6861T>A (p.Phe2287Leu) c.6858T>A (p.Phe2286Leu) | |
X | g.154351009del | CA2499226480 | FLNA | c.7035del (p.Phe2345LeufsTer5) c.7059del (p.Phe2353LeufsTer5) c.6978del (p.Phe2326LeufsTer5) c.3840del (p.Phe1280LeufsTer5) c.7116del (n.7116del) c.280-2316del c.7338del (n.7338del) n.2777del c.6939del (p.Phe2313LeufsTer5) c.7015del (n.7015del) n.3587del n.67+1811del n.100del c.6063del (p.Phe2021LeufsTer5) c.6963del (p.Phe2321LeufsTer5) c.6885del (p.Phe2295LeufsTer5) c.6861del (p.Phe2287LeufsTer5) c.6858del (p.Phe2286LeufsTer5) | ClinVar dbSNP |
X | g.154351007A>C | CA415185207 | FLNA | c.7034T>G (p.Phe2345Cys) c.7058T>G (p.Phe2353Cys) c.6977T>G (p.Phe2326Cys) c.3839T>G (p.Phe1280Cys) c.7115T>G (n.7115T>G) c.280-2317T>G c.7337T>G (n.7337T>G) n.2776T>G c.6938T>G (p.Phe2313Cys) c.7014T>G (n.7014T>G) n.3586T>G n.67+1810T>G n.99T>G c.6062T>G (p.Phe2021Cys) c.6962T>G (p.Phe2321Cys) c.6884T>G (p.Phe2295Cys) c.6860T>G (p.Phe2287Cys) c.6857T>G (p.Phe2286Cys) | |
X | g.154351007A>G | CA415185211 | FLNA | c.7034T>C (p.Phe2345Ser) c.7058T>C (p.Phe2353Ser) c.6977T>C (p.Phe2326Ser) c.3839T>C (p.Phe1280Ser) c.7115T>C (n.7115T>C) c.280-2317T>C c.7337T>C (n.7337T>C) n.2776T>C c.6938T>C (p.Phe2313Ser) c.7014T>C (n.7014T>C) n.3586T>C n.67+1810T>C n.99T>C c.6062T>C (p.Phe2021Ser) c.6962T>C (p.Phe2321Ser) c.6884T>C (p.Phe2295Ser) c.6860T>C (p.Phe2287Ser) c.6857T>C (p.Phe2286Ser) | ClinVar dbSNP |
X | g.154351007A>T | CA415185213 | FLNA | c.7034T>A (p.Phe2345Tyr) c.7058T>A (p.Phe2353Tyr) c.6977T>A (p.Phe2326Tyr) c.3839T>A (p.Phe1280Tyr) c.7115T>A (n.7115T>A) c.280-2317T>A c.7337T>A (n.7337T>A) n.2776T>A c.6938T>A (p.Phe2313Tyr) c.7014T>A (n.7014T>A) n.3586T>A n.67+1810T>A n.99T>A c.6062T>A (p.Phe2021Tyr) c.6962T>A (p.Phe2321Tyr) c.6884T>A (p.Phe2295Tyr) c.6860T>A (p.Phe2287Tyr) c.6857T>A (p.Phe2286Tyr) | |
X | g.154351008A>C | CA415185215 | FLNA | c.7033T>G (p.Phe2345Val) c.7057T>G (p.Phe2353Val) c.6976T>G (p.Phe2326Val) c.3838T>G (p.Phe1280Val) c.7114T>G (n.7114T>G) c.280-2318T>G c.7336T>G (n.7336T>G) n.2775T>G c.6937T>G (p.Phe2313Val) c.7013T>G (n.7013T>G) n.3585T>G n.67+1809T>G n.98T>G c.6061T>G (p.Phe2021Val) c.6961T>G (p.Phe2321Val) c.6883T>G (p.Phe2295Val) c.6859T>G (p.Phe2287Val) c.6856T>G (p.Phe2286Val) | |
X | g.154351008A>G | CA415185217 | FLNA | c.7033T>C (p.Phe2345Leu) c.7057T>C (p.Phe2353Leu) c.6976T>C (p.Phe2326Leu) c.3838T>C (p.Phe1280Leu) c.7114T>C (n.7114T>C) c.280-2318T>C c.7336T>C (n.7336T>C) n.2775T>C c.6937T>C (p.Phe2313Leu) c.7013T>C (n.7013T>C) n.3585T>C n.67+1809T>C n.98T>C c.6061T>C (p.Phe2021Leu) c.6961T>C (p.Phe2321Leu) c.6883T>C (p.Phe2295Leu) c.6859T>C (p.Phe2287Leu) c.6856T>C (p.Phe2286Leu) | |
X | g.154351008A>T | CA415185219 | FLNA | c.7033T>A (p.Phe2345Ile) c.7057T>A (p.Phe2353Ile) c.6976T>A (p.Phe2326Ile) c.3838T>A (p.Phe1280Ile) c.7114T>A (n.7114T>A) c.280-2318T>A c.7336T>A (n.7336T>A) n.2775T>A c.6937T>A (p.Phe2313Ile) c.7013T>A (n.7013T>A) n.3585T>A n.67+1809T>A n.98T>A c.6061T>A (p.Phe2021Ile) c.6961T>A (p.Phe2321Ile) c.6883T>A (p.Phe2295Ile) c.6859T>A (p.Phe2287Ile) c.6856T>A (p.Phe2286Ile) | |
X | g.154351009A>C | CA519276558 | FLNA | c.7032T>G (p.Ser2344=) c.7056T>G (p.Ser2352=) c.6975T>G (p.Ser2325=) c.3837T>G (p.Ser1279=) c.7113T>G (n.7113T>G) c.280-2319T>G c.7335T>G (n.7335T>G) n.2774T>G c.6936T>G (p.Ser2312=) c.7012T>G (n.7012T>G) n.3584T>G n.67+1808T>G n.97T>G c.6060T>G (p.Ser2020=) c.6960T>G (p.Ser2320=) c.6882T>G (p.Ser2294=) c.6858T>G (p.Ser2286=) c.6855T>G (p.Ser2285=) | |
X | g.154351009A>G | CA519276559 | FLNA | c.7032T>C (p.Ser2344=) c.7056T>C (p.Ser2352=) c.6975T>C (p.Ser2325=) c.3837T>C (p.Ser1279=) c.7113T>C (n.7113T>C) c.280-2319T>C c.7335T>C (n.7335T>C) n.2774T>C c.6936T>C (p.Ser2312=) c.7012T>C (n.7012T>C) n.3584T>C n.67+1808T>C n.97T>C c.6060T>C (p.Ser2020=) c.6960T>C (p.Ser2320=) c.6882T>C (p.Ser2294=) c.6858T>C (p.Ser2286=) c.6855T>C (p.Ser2285=) | ClinVar dbSNP |
X | g.154351009A>T | CA519276560 | FLNA | c.7032T>A (p.Ser2344=) c.7056T>A (p.Ser2352=) c.6975T>A (p.Ser2325=) c.3837T>A (p.Ser1279=) c.7113T>A (n.7113T>A) c.280-2319T>A c.7335T>A (n.7335T>A) n.2774T>A c.6936T>A (p.Ser2312=) c.7012T>A (n.7012T>A) n.3584T>A n.67+1808T>A n.97T>A c.6060T>A (p.Ser2020=) c.6960T>A (p.Ser2320=) c.6882T>A (p.Ser2294=) c.6858T>A (p.Ser2286=) c.6855T>A (p.Ser2285=) | |
X | g.154351010G>A | CA415185222 | FLNA | c.7031C>T (p.Ser2344Phe) c.7055C>T (p.Ser2352Phe) c.6974C>T (p.Ser2325Phe) c.3836C>T (p.Ser1279Phe) c.7112C>T (n.7112C>T) c.280-2320C>T c.7334C>T (n.7334C>T) n.2773C>T c.6935C>T (p.Ser2312Phe) c.7011C>T (n.7011C>T) n.3583C>T n.67+1807C>T n.96C>T c.6059C>T (p.Ser2020Phe) c.6959C>T (p.Ser2320Phe) c.6881C>T (p.Ser2294Phe) c.6857C>T (p.Ser2286Phe) c.6854C>T (p.Ser2285Phe) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
X | g.154351010G>C | CA415185226 | FLNA | c.7031C>G (p.Ser2344Cys) c.7055C>G (p.Ser2352Cys) c.6974C>G (p.Ser2325Cys) c.3836C>G (p.Ser1279Cys) c.7112C>G (n.7112C>G) c.280-2320C>G c.7334C>G (n.7334C>G) n.2773C>G c.6935C>G (p.Ser2312Cys) c.7011C>G (n.7011C>G) n.3583C>G n.67+1807C>G n.96C>G c.6059C>G (p.Ser2020Cys) c.6959C>G (p.Ser2320Cys) c.6881C>G (p.Ser2294Cys) c.6857C>G (p.Ser2286Cys) c.6854C>G (p.Ser2285Cys) | |
X | g.154351010G= | CA2466652388 | FLNA | c.7031C= (p.Ser2344=) c.7055C= (p.Ser2352=) c.6974C= (p.Ser2325=) c.3836C= (p.Ser1279=) c.7112C= (n.7112C=) c.280-2320C= c.7334C= (n.7334C=) n.2773C= c.6935C= (p.Ser2312=) c.7011C= (n.7011C=) n.3583C= n.67+1807C= n.96C= c.6059C= (p.Ser2020=) c.6959C= (p.Ser2320=) c.6881C= (p.Ser2294=) c.6857C= (p.Ser2286=) c.6854C= (p.Ser2285=) | |
X | g.154351010G>T | CA415185224 | FLNA | c.7031C>A (p.Ser2344Tyr) c.7055C>A (p.Ser2352Tyr) c.6974C>A (p.Ser2325Tyr) c.3836C>A (p.Ser1279Tyr) c.7112C>A (n.7112C>A) c.280-2320C>A c.7334C>A (n.7334C>A) n.2773C>A c.6935C>A (p.Ser2312Tyr) c.7011C>A (n.7011C>A) n.3583C>A n.67+1807C>A n.96C>A c.6059C>A (p.Ser2020Tyr) c.6959C>A (p.Ser2320Tyr) c.6881C>A (p.Ser2294Tyr) c.6857C>A (p.Ser2286Tyr) c.6854C>A (p.Ser2285Tyr) | COSMIC COSMIC |
X | g.154351011A= | CA2466652389 | FLNA | c.7030T= (p.Ser2344=) c.7054T= (p.Ser2352=) c.6973T= (p.Ser2325=) c.3835T= (p.Ser1279=) c.7111T= (n.7111T=) c.280-2321T= c.7333T= (n.7333T=) n.2772T= c.6934T= (p.Ser2312=) c.7010T= (n.7010T=) n.3582T= n.67+1806T= n.95T= c.6058T= (p.Ser2020=) c.6958T= (p.Ser2320=) c.6880T= (p.Ser2294=) c.6856T= (p.Ser2286=) c.6853T= (p.Ser2285=) | |
X | g.154351011A>C | CA415185228 | FLNA | c.7030T>G (p.Ser2344Ala) c.7054T>G (p.Ser2352Ala) c.6973T>G (p.Ser2325Ala) c.3835T>G (p.Ser1279Ala) c.7111T>G (n.7111T>G) c.280-2321T>G c.7333T>G (n.7333T>G) n.2772T>G c.6934T>G (p.Ser2312Ala) c.7010T>G (n.7010T>G) n.3582T>G n.67+1806T>G n.95T>G c.6058T>G (p.Ser2020Ala) c.6958T>G (p.Ser2320Ala) c.6880T>G (p.Ser2294Ala) c.6856T>G (p.Ser2286Ala) c.6853T>G (p.Ser2285Ala) | |
X | g.154351011A>G | CA415185230 | FLNA | c.7030T>C (p.Ser2344Pro) c.7054T>C (p.Ser2352Pro) c.6973T>C (p.Ser2325Pro) c.3835T>C (p.Ser1279Pro) c.7111T>C (n.7111T>C) c.280-2321T>C c.7333T>C (n.7333T>C) n.2772T>C c.6934T>C (p.Ser2312Pro) c.7010T>C (n.7010T>C) n.3582T>C n.67+1806T>C n.95T>C c.6058T>C (p.Ser2020Pro) c.6958T>C (p.Ser2320Pro) c.6880T>C (p.Ser2294Pro) c.6856T>C (p.Ser2286Pro) c.6853T>C (p.Ser2285Pro) | |
X | g.154351011A>T | CA10559961 | FLNA | c.7030T>A (p.Ser2344Thr) c.7054T>A (p.Ser2352Thr) c.6973T>A (p.Ser2325Thr) c.3835T>A (p.Ser1279Thr) c.7111T>A (n.7111T>A) c.280-2321T>A c.7333T>A (n.7333T>A) n.2772T>A c.6934T>A (p.Ser2312Thr) c.7010T>A (n.7010T>A) n.3582T>A n.67+1806T>A n.95T>A c.6058T>A (p.Ser2020Thr) c.6958T>A (p.Ser2320Thr) c.6880T>A (p.Ser2294Thr) c.6856T>A (p.Ser2286Thr) c.6853T>A (p.Ser2285Thr) | dbSNP ExAC gnomAD v2 |
X | g.154351012G>A | CA519276561 | FLNA | c.7029C>T (p.Ala2343=) c.7053C>T (p.Ala2351=) c.6972C>T (p.Ala2324=) c.3834C>T (p.Ala1278=) c.7110C>T (n.7110C>T) c.280-2322C>T c.7332C>T (n.7332C>T) n.2771C>T c.6933C>T (p.Ala2311=) c.7009C>T (n.7009C>T) n.3581C>T n.67+1805C>T n.94C>T c.6057C>T (p.Ala2019=) c.6957C>T (p.Ala2319=) c.6879C>T (p.Ala2293=) c.6855C>T (p.Ala2285=) c.6852C>T (p.Ala2284=) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
X | g.154351012G>C | CA519276562 | FLNA | c.7029C>G (p.Ala2343=) c.7053C>G (p.Ala2351=) c.6972C>G (p.Ala2324=) c.3834C>G (p.Ala1278=) c.7110C>G (n.7110C>G) c.280-2322C>G c.7332C>G (n.7332C>G) n.2771C>G c.6933C>G (p.Ala2311=) c.7009C>G (n.7009C>G) n.3581C>G n.67+1805C>G n.94C>G c.6057C>G (p.Ala2019=) c.6957C>G (p.Ala2319=) c.6879C>G (p.Ala2293=) c.6855C>G (p.Ala2285=) c.6852C>G (p.Ala2284=) | ClinVar dbSNP |
X | g.154351012G= | CA2466652390 | FLNA | c.7029C= (p.Ala2343=) c.7053C= (p.Ala2351=) c.6972C= (p.Ala2324=) c.3834C= (p.Ala1278=) c.7110C= (n.7110C=) c.280-2322C= c.7332C= (n.7332C=) n.2771C= c.6933C= (p.Ala2311=) c.7009C= (n.7009C=) n.3581C= n.67+1805C= n.94C= c.6057C= (p.Ala2019=) c.6957C= (p.Ala2319=) c.6879C= (p.Ala2293=) c.6855C= (p.Ala2285=) c.6852C= (p.Ala2284=) | |
X | g.154351012G>T | CA519276563 | FLNA | c.7029C>A (p.Ala2343=) c.7053C>A (p.Ala2351=) c.6972C>A (p.Ala2324=) c.3834C>A (p.Ala1278=) c.7110C>A (n.7110C>A) c.280-2322C>A c.7332C>A (n.7332C>A) n.2771C>A c.6933C>A (p.Ala2311=) c.7009C>A (n.7009C>A) n.3581C>A n.67+1805C>A n.94C>A c.6057C>A (p.Ala2019=) c.6957C>A (p.Ala2319=) c.6879C>A (p.Ala2293=) c.6855C>A (p.Ala2285=) c.6852C>A (p.Ala2284=) | |
X | g.154351013G>A | CA415185233 | FLNA | c.7028C>T (p.Ala2343Val) c.7052C>T (p.Ala2351Val) c.6971C>T (p.Ala2324Val) c.3833C>T (p.Ala1278Val) c.7109C>T (n.7109C>T) c.280-2323C>T c.7331C>T (n.7331C>T) n.2770C>T c.6932C>T (p.Ala2311Val) c.7008C>T (n.7008C>T) n.3580C>T n.67+1804C>T n.93C>T c.6056C>T (p.Ala2019Val) c.6956C>T (p.Ala2319Val) c.6878C>T (p.Ala2293Val) c.6854C>T (p.Ala2285Val) c.6851C>T (p.Ala2284Val) | dbSNP |
X | g.154351013G>C | CA10559962 | FLNA | c.7028C>G (p.Ala2343Gly) c.7052C>G (p.Ala2351Gly) c.6971C>G (p.Ala2324Gly) c.3833C>G (p.Ala1278Gly) c.7109C>G (n.7109C>G) c.280-2323C>G c.7331C>G (n.7331C>G) n.2770C>G c.6932C>G (p.Ala2311Gly) c.7008C>G (n.7008C>G) n.3580C>G n.67+1804C>G n.93C>G c.6056C>G (p.Ala2019Gly) c.6956C>G (p.Ala2319Gly) c.6878C>G (p.Ala2293Gly) c.6854C>G (p.Ala2285Gly) c.6851C>G (p.Ala2284Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.154351013G= | CA2466652391 | FLNA | c.7028C= (p.Ala2343=) c.7052C= (p.Ala2351=) c.6971C= (p.Ala2324=) c.3833C= (p.Ala1278=) c.7109C= (n.7109C=) c.280-2323C= c.7331C= (n.7331C=) n.2770C= c.6932C= (p.Ala2311=) c.7008C= (n.7008C=) n.3580C= n.67+1804C= n.93C= c.6056C= (p.Ala2019=) c.6956C= (p.Ala2319=) c.6878C= (p.Ala2293=) c.6854C= (p.Ala2285=) c.6851C= (p.Ala2284=) | |
X | g.154351013G>T | CA415185236 | FLNA | c.7028C>A (p.Ala2343Asp) c.7052C>A (p.Ala2351Asp) c.6971C>A (p.Ala2324Asp) c.3833C>A (p.Ala1278Asp) c.7109C>A (n.7109C>A) c.280-2323C>A c.7331C>A (n.7331C>A) n.2770C>A c.6932C>A (p.Ala2311Asp) c.7008C>A (n.7008C>A) n.3580C>A n.67+1804C>A n.93C>A c.6056C>A (p.Ala2019Asp) c.6956C>A (p.Ala2319Asp) c.6878C>A (p.Ala2293Asp) c.6854C>A (p.Ala2285Asp) c.6851C>A (p.Ala2284Asp) | |
X | g.154351014C>A | CA415185237 | FLNA | c.7027G>T (p.Ala2343Ser) c.7051G>T (p.Ala2351Ser) c.6970G>T (p.Ala2324Ser) c.3832G>T (p.Ala1278Ser) c.7108G>T (n.7108G>T) c.280-2324G>T c.7330G>T (n.7330G>T) n.2769G>T c.6931G>T (p.Ala2311Ser) c.7007G>T (n.7007G>T) n.3579G>T n.67+1803G>T n.92G>T c.6055G>T (p.Ala2019Ser) c.6955G>T (p.Ala2319Ser) c.6877G>T (p.Ala2293Ser) c.6853G>T (p.Ala2285Ser) c.6850G>T (p.Ala2284Ser) | |
X | g.154351014C= | CA2466652392 | FLNA | c.7027G= (p.Ala2343=) c.7051G= (p.Ala2351=) c.6970G= (p.Ala2324=) c.3832G= (p.Ala1278=) c.7108G= (n.7108G=) c.280-2324G= c.7330G= (n.7330G=) n.2769G= c.6931G= (p.Ala2311=) c.7007G= (n.7007G=) n.3579G= n.67+1803G= n.92G= c.6055G= (p.Ala2019=) c.6955G= (p.Ala2319=) c.6877G= (p.Ala2293=) c.6853G= (p.Ala2285=) c.6850G= (p.Ala2284=) | |
X | g.154351014C>G | CA415185238 | FLNA | c.7027G>C (p.Ala2343Pro) c.7051G>C (p.Ala2351Pro) c.6970G>C (p.Ala2324Pro) c.3832G>C (p.Ala1278Pro) c.7108G>C (n.7108G>C) c.280-2324G>C c.7330G>C (n.7330G>C) n.2769G>C c.6931G>C (p.Ala2311Pro) c.7007G>C (n.7007G>C) n.3579G>C n.67+1803G>C n.92G>C c.6055G>C (p.Ala2019Pro) c.6955G>C (p.Ala2319Pro) c.6877G>C (p.Ala2293Pro) c.6853G>C (p.Ala2285Pro) c.6850G>C (p.Ala2284Pro) | ClinVar dbSNP |
X | g.154351014C>T | CA415185240 | FLNA | c.7027G>A (p.Ala2343Thr) c.7051G>A (p.Ala2351Thr) c.6970G>A (p.Ala2324Thr) c.3832G>A (p.Ala1278Thr) c.7108G>A (n.7108G>A) c.280-2324G>A c.7330G>A (n.7330G>A) n.2769G>A c.6931G>A (p.Ala2311Thr) c.7007G>A (n.7007G>A) n.3579G>A n.67+1803G>A n.92G>A c.6055G>A (p.Ala2019Thr) c.6955G>A (p.Ala2319Thr) c.6877G>A (p.Ala2293Thr) c.6853G>A (p.Ala2285Thr) c.6850G>A (p.Ala2284Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
X | g.154351015T>A | CA519276564 | FLNA | c.7026A>T (p.Pro2342=) c.7050A>T (p.Pro2350=) c.6969A>T (p.Pro2323=) c.3831A>T (p.Pro1277=) c.7107A>T (n.7107A>T) c.280-2325A>T c.7329A>T (n.7329A>T) n.2768A>T c.6930A>T (p.Pro2310=) c.7006A>T (n.7006A>T) n.3578A>T n.67+1802A>T n.91A>T c.6054A>T (p.Pro2018=) c.6954A>T (p.Pro2318=) c.6876A>T (p.Pro2292=) c.6852A>T (p.Pro2284=) c.6849A>T (p.Pro2283=) | |
X | g.154351015T>C | CA519276565 | FLNA | c.7026A>G (p.Pro2342=) c.7050A>G (p.Pro2350=) c.6969A>G (p.Pro2323=) c.3831A>G (p.Pro1277=) c.7107A>G (n.7107A>G) c.280-2325A>G c.7329A>G (n.7329A>G) n.2768A>G c.6930A>G (p.Pro2310=) c.7006A>G (n.7006A>G) n.3578A>G n.67+1802A>G n.91A>G c.6054A>G (p.Pro2018=) c.6954A>G (p.Pro2318=) c.6876A>G (p.Pro2292=) c.6852A>G (p.Pro2284=) c.6849A>G (p.Pro2283=) | |
X | g.154351015T>G | CA519276566 | FLNA | c.7026A>C (p.Pro2342=) c.7050A>C (p.Pro2350=) c.6969A>C (p.Pro2323=) c.3831A>C (p.Pro1277=) c.7107A>C (n.7107A>C) c.280-2325A>C c.7329A>C (n.7329A>C) n.2768A>C c.6930A>C (p.Pro2310=) c.7006A>C (n.7006A>C) n.3578A>C n.67+1802A>C n.91A>C c.6054A>C (p.Pro2018=) c.6954A>C (p.Pro2318=) c.6876A>C (p.Pro2292=) c.6852A>C (p.Pro2284=) c.6849A>C (p.Pro2283=) | |
X | g.154351016G>A | CA415185245 | FLNA | c.7025C>T (p.Pro2342Leu) c.7049C>T (p.Pro2350Leu) c.6968C>T (p.Pro2323Leu) c.3830C>T (p.Pro1277Leu) c.7106C>T (n.7106C>T) c.280-2326C>T c.7328C>T (n.7328C>T) n.2767C>T c.6929C>T (p.Pro2310Leu) c.7005C>T (n.7005C>T) n.3577C>T n.67+1801C>T n.90C>T c.6053C>T (p.Pro2018Leu) c.6953C>T (p.Pro2318Leu) c.6875C>T (p.Pro2292Leu) c.6851C>T (p.Pro2284Leu) c.6848C>T (p.Pro2283Leu) | |
X | g.154351016G>C | CA415185247 | FLNA | c.7025C>G (p.Pro2342Arg) c.7049C>G (p.Pro2350Arg) c.6968C>G (p.Pro2323Arg) c.3830C>G (p.Pro1277Arg) c.7106C>G (n.7106C>G) c.280-2326C>G c.7328C>G (n.7328C>G) n.2767C>G c.6929C>G (p.Pro2310Arg) c.7005C>G (n.7005C>G) n.3577C>G n.67+1801C>G n.90C>G c.6053C>G (p.Pro2018Arg) c.6953C>G (p.Pro2318Arg) c.6875C>G (p.Pro2292Arg) c.6851C>G (p.Pro2284Arg) c.6848C>G (p.Pro2283Arg) | |
X | g.154351016G>T | CA415185243 | FLNA | c.7025C>A (p.Pro2342Gln) c.7049C>A (p.Pro2350Gln) c.6968C>A (p.Pro2323Gln) c.3830C>A (p.Pro1277Gln) c.7106C>A (n.7106C>A) c.280-2326C>A c.7328C>A (n.7328C>A) n.2767C>A c.6929C>A (p.Pro2310Gln) c.7005C>A (n.7005C>A) n.3577C>A n.67+1801C>A n.90C>A c.6053C>A (p.Pro2018Gln) c.6953C>A (p.Pro2318Gln) c.6875C>A (p.Pro2292Gln) c.6851C>A (p.Pro2284Gln) c.6848C>A (p.Pro2283Gln) | |
X | g.154351017G>A | CA415185249 | FLNA | c.7024C>T (p.Pro2342Ser) c.7048C>T (p.Pro2350Ser) c.6967C>T (p.Pro2323Ser) c.3829C>T (p.Pro1277Ser) c.7105C>T (n.7105C>T) c.280-2327C>T c.7327C>T (n.7327C>T) n.2766C>T c.6928C>T (p.Pro2310Ser) c.7004C>T (n.7004C>T) n.3576C>T n.67+1800C>T n.89C>T c.6052C>T (p.Pro2018Ser) c.6952C>T (p.Pro2318Ser) c.6874C>T (p.Pro2292Ser) c.6850C>T (p.Pro2284Ser) c.6847C>T (p.Pro2283Ser) | |
X | g.154351017G>C | CA415185251 | FLNA | c.7024C>G (p.Pro2342Ala) c.7048C>G (p.Pro2350Ala) c.6967C>G (p.Pro2323Ala) c.3829C>G (p.Pro1277Ala) c.7105C>G (n.7105C>G) c.280-2327C>G c.7327C>G (n.7327C>G) n.2766C>G c.6928C>G (p.Pro2310Ala) c.7004C>G (n.7004C>G) n.3576C>G n.67+1800C>G n.89C>G c.6052C>G (p.Pro2018Ala) c.6952C>G (p.Pro2318Ala) c.6874C>G (p.Pro2292Ala) c.6850C>G (p.Pro2284Ala) c.6847C>G (p.Pro2283Ala) | |
X | g.154351017G>T | CA415185253 | FLNA | c.7024C>A (p.Pro2342Thr) c.7048C>A (p.Pro2350Thr) c.6967C>A (p.Pro2323Thr) c.3829C>A (p.Pro1277Thr) c.7105C>A (n.7105C>A) c.280-2327C>A c.7327C>A (n.7327C>A) n.2766C>A c.6928C>A (p.Pro2310Thr) c.7004C>A (n.7004C>A) n.3576C>A n.67+1800C>A n.89C>A c.6052C>A (p.Pro2018Thr) c.6952C>A (p.Pro2318Thr) c.6874C>A (p.Pro2292Thr) c.6850C>A (p.Pro2284Thr) c.6847C>A (p.Pro2283Thr) | |
X | g.154351018C>A | CA415185255 | FLNA | c.7023G>T (p.Gln2341His) c.7047G>T (p.Gln2349His) c.6966G>T (p.Gln2322His) c.3828G>T (p.Gln1276His) c.7104G>T (n.7104G>T) c.280-2328G>T c.7326G>T (n.7326G>T) n.2765G>T c.6927G>T (p.Gln2309His) c.7003G>T (n.7003G>T) n.3575G>T n.67+1799G>T n.88G>T c.6051G>T (p.Gln2017His) c.6951G>T (p.Gln2317His) c.6873G>T (p.Gln2291His) c.6849G>T (p.Gln2283His) c.6846G>T (p.Gln2282His) | |
X | g.154351018C= | CA2466652393 | FLNA | c.7023G= (p.Gln2341=) c.7047G= (p.Gln2349=) c.6966G= (p.Gln2322=) c.3828G= (p.Gln1276=) c.7104G= (n.7104G=) c.280-2328G= c.7326G= (n.7326G=) n.2765G= c.6927G= (p.Gln2309=) c.7003G= (n.7003G=) n.3575G= n.67+1799G= n.88G= c.6051G= (p.Gln2017=) c.6951G= (p.Gln2317=) c.6873G= (p.Gln2291=) c.6849G= (p.Gln2283=) c.6846G= (p.Gln2282=) | |
X | g.154351018C>G | CA415185257 | FLNA | c.7023G>C (p.Gln2341His) c.7047G>C (p.Gln2349His) c.6966G>C (p.Gln2322His) c.3828G>C (p.Gln1276His) c.7104G>C (n.7104G>C) c.280-2328G>C c.7326G>C (n.7326G>C) n.2765G>C c.6927G>C (p.Gln2309His) c.7003G>C (n.7003G>C) n.3575G>C n.67+1799G>C n.88G>C c.6051G>C (p.Gln2017His) c.6951G>C (p.Gln2317His) c.6873G>C (p.Gln2291His) c.6849G>C (p.Gln2283His) c.6846G>C (p.Gln2282His) | |
X | g.154351018C>T | CA519276567 | FLNA | c.7023G>A (p.Gln2341=) c.7047G>A (p.Gln2349=) c.6966G>A (p.Gln2322=) c.3828G>A (p.Gln1276=) c.7104G>A (n.7104G>A) c.280-2328G>A c.7326G>A (n.7326G>A) n.2765G>A c.6927G>A (p.Gln2309=) c.7003G>A (n.7003G>A) n.3575G>A n.67+1799G>A n.88G>A c.6051G>A (p.Gln2017=) c.6951G>A (p.Gln2317=) c.6873G>A (p.Gln2291=) c.6849G>A (p.Gln2283=) c.6846G>A (p.Gln2282=) | dbSNP gnomAD v4 |