Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.154361812_154363756delinsCA | CA341137 | FLNA | c.2280+266_2827-25delinsTG c.2199+266_2746-25delinsTG c.2337+266_2884-25delinsTG c.279+1680_279+3624delinsTG c.2559+266_3106-25delinsTG c.2236+266_2783-25delinsTG c.2079+266_2626-25delinsTG | ClinVar |
X | g.154362662C>A | CA415237110 | FLNA | c.2403G>T (p.Gln801His) c.2322G>T (p.Gln774His) c.2460G>T (n.2460G>T) c.279+2774G>T c.2682G>T (n.2682G>T) c.2359G>T (n.2359G>T) c.2202G>T (p.Gln734His) | dbSNP |
X | g.154362662C>G | CA415237113 | FLNA | c.2403G>C (p.Gln801His) c.2322G>C (p.Gln774His) c.2460G>C (n.2460G>C) c.279+2774G>C c.2682G>C (n.2682G>C) c.2359G>C (n.2359G>C) c.2202G>C (p.Gln734His) | ClinVar |
X | g.154362662C>T | CA519708841 | FLNA | c.2403G>A (p.Gln801=) c.2322G>A (p.Gln774=) c.2460G>A (n.2460G>A) c.279+2774G>A c.2682G>A (n.2682G>A) c.2359G>A (n.2359G>A) c.2202G>A (p.Gln734=) | gnomAD v4 |
X | g.154362663T>A | CA415237116 | FLNA | c.2402A>T (p.Gln801Leu) c.2321A>T (p.Gln774Leu) c.2459A>T (n.2459A>T) c.279+2773A>T c.2681A>T (n.2681A>T) c.2358A>T (n.2358A>T) c.2201A>T (p.Gln734Leu) | |
X | g.154362663T>C | CA415237120 | FLNA | c.2402A>G (p.Gln801Arg) c.2321A>G (p.Gln774Arg) c.2459A>G (n.2459A>G) c.279+2773A>G c.2681A>G (n.2681A>G) c.2358A>G (n.2358A>G) c.2201A>G (p.Gln734Arg) | |
X | g.154362663T>G | CA415237118 | FLNA | c.2402A>C (p.Gln801Pro) c.2321A>C (p.Gln774Pro) c.2459A>C (n.2459A>C) c.279+2773A>C c.2681A>C (n.2681A>C) c.2358A>C (n.2358A>C) c.2201A>C (p.Gln734Pro) | |
X | g.154362663_154362664insAG | CA2580101776 | FLNA | c.2401_2402insCT (p.Gln801ProfsTer16) c.2320_2321insCT (p.Gln774ProfsTer16) c.2458_2459insCT (n.2458_2459insCT) c.279+2772_279+2773insCT c.2680_2681insCT (n.2680_2681insCT) c.2357_2358insCT (n.2357_2358insCT) c.2200_2201insCT (p.Gln734ProfsTer16) | ClinVar dbSNP |
X | g.154362664G>A | CA415237123 | FLNA | c.2401C>T (p.Gln801Ter) c.2320C>T (p.Gln774Ter) c.2458C>T (n.2458C>T) c.279+2772C>T c.2680C>T (n.2680C>T) c.2357C>T (n.2357C>T) c.2200C>T (p.Gln734Ter) | |
X | g.154362664G>C | CA415237125 | FLNA | c.2401C>G (p.Gln801Glu) c.2320C>G (p.Gln774Glu) c.2458C>G (n.2458C>G) c.279+2772C>G c.2680C>G (n.2680C>G) c.2357C>G (n.2357C>G) c.2200C>G (p.Gln734Glu) | |
X | g.154362664G>T | CA415237128 | FLNA | c.2401C>A (p.Gln801Lys) c.2320C>A (p.Gln774Lys) c.2458C>A (n.2458C>A) c.279+2772C>A c.2680C>A (n.2680C>A) c.2357C>A (n.2357C>A) c.2200C>A (p.Gln734Lys) | |
X | g.154362665G>A | CA519708847 | FLNA | c.2400C>T (p.Gly800=) c.2319C>T (p.Gly773=) c.2457C>T (n.2457C>T) c.279+2771C>T c.2679C>T (n.2679C>T) c.2356C>T (n.2356C>T) c.2199C>T (p.Gly733=) | |
X | g.154362665G>C | CA519708848 | FLNA | c.2400C>G (p.Gly800=) c.2319C>G (p.Gly773=) c.2457C>G (n.2457C>G) c.279+2771C>G c.2679C>G (n.2679C>G) c.2356C>G (n.2356C>G) c.2199C>G (p.Gly733=) | |
X | g.154362665G>T | CA519708850 | FLNA | c.2400C>A (p.Gly800=) c.2319C>A (p.Gly773=) c.2457C>A (n.2457C>A) c.279+2771C>A c.2679C>A (n.2679C>A) c.2356C>A (n.2356C>A) c.2199C>A (p.Gly733=) | |
X | g.154362666C>A | CA415237131 | FLNA | c.2399G>T (p.Gly800Val) c.2318G>T (p.Gly773Val) c.2456G>T (n.2456G>T) c.279+2770G>T c.2678G>T (n.2678G>T) c.2355G>T (n.2355G>T) c.2198G>T (p.Gly733Val) | |
X | g.154362666C>G | CA415237134 | FLNA | c.2399G>C (p.Gly800Ala) c.2318G>C (p.Gly773Ala) c.2456G>C (n.2456G>C) c.279+2770G>C c.2678G>C (n.2678G>C) c.2355G>C (n.2355G>C) c.2198G>C (p.Gly733Ala) | COSMIC COSMIC |
X | g.154362666C>T | CA415237136 | FLNA | c.2399G>A (p.Gly800Asp) c.2318G>A (p.Gly773Asp) c.2456G>A (n.2456G>A) c.279+2770G>A c.2678G>A (n.2678G>A) c.2355G>A (n.2355G>A) c.2198G>A (p.Gly733Asp) | |
X | g.154362667C>A | CA415237139 | FLNA | c.2398G>T (p.Gly800Cys) c.2317G>T (p.Gly773Cys) c.2455G>T (n.2455G>T) c.279+2769G>T c.2677G>T (n.2677G>T) c.2354G>T (n.2354G>T) c.2197G>T (p.Gly733Cys) | |
X | g.154362667C>G | CA415237141 | FLNA | c.2398G>C (p.Gly800Arg) c.2317G>C (p.Gly773Arg) c.2455G>C (n.2455G>C) c.279+2769G>C c.2677G>C (n.2677G>C) c.2354G>C (n.2354G>C) c.2197G>C (p.Gly733Arg) | |
X | g.154362667C>T | CA415237143 | FLNA | c.2398G>A (p.Gly800Ser) c.2317G>A (p.Gly773Ser) c.2455G>A (n.2455G>A) c.279+2769G>A c.2677G>A (n.2677G>A) c.2354G>A (n.2354G>A) c.2197G>A (p.Gly733Ser) | COSMIC COSMIC |
X | g.154362668A>C | CA519708860 | FLNA | c.2397T>G (p.Ala799=) c.2316T>G (p.Ala772=) c.2454T>G (n.2454T>G) c.279+2768T>G c.2676T>G (n.2676T>G) c.2353T>G (n.2353T>G) c.2196T>G (p.Ala732=) | |
X | g.154362668A>G | CA519708862 | FLNA | c.2397T>C (p.Ala799=) c.2316T>C (p.Ala772=) c.2454T>C (n.2454T>C) c.279+2768T>C c.2676T>C (n.2676T>C) c.2353T>C (n.2353T>C) c.2196T>C (p.Ala732=) | |
X | g.154362668A>T | CA519708861 | FLNA | c.2397T>A (p.Ala799=) c.2316T>A (p.Ala772=) c.2454T>A (n.2454T>A) c.279+2768T>A c.2676T>A (n.2676T>A) c.2353T>A (n.2353T>A) c.2196T>A (p.Ala732=) | |
X | g.154362669G>A | CA415237148 | FLNA | c.2396C>T (p.Ala799Val) c.2315C>T (p.Ala772Val) c.2453C>T (n.2453C>T) c.279+2767C>T c.2675C>T (n.2675C>T) c.2352C>T (n.2352C>T) c.2195C>T (p.Ala732Val) | |
X | g.154362669G>C | CA415237147 | FLNA | c.2396C>G (p.Ala799Gly) c.2315C>G (p.Ala772Gly) c.2453C>G (n.2453C>G) c.279+2767C>G c.2675C>G (n.2675C>G) c.2352C>G (n.2352C>G) c.2195C>G (p.Ala732Gly) | |
X | g.154362669G>T | CA415237145 | FLNA | c.2396C>A (p.Ala799Asp) c.2315C>A (p.Ala772Asp) c.2453C>A (n.2453C>A) c.279+2767C>A c.2675C>A (n.2675C>A) c.2352C>A (n.2352C>A) c.2195C>A (p.Ala732Asp) | COSMIC COSMIC |
X | g.154362670C>A | CA415237152 | FLNA | c.2395G>T (p.Ala799Ser) c.2314G>T (p.Ala772Ser) c.2452G>T (n.2452G>T) c.279+2766G>T c.2674G>T (n.2674G>T) c.2351G>T (n.2351G>T) c.2194G>T (p.Ala732Ser) | |
X | g.154362670C>G | CA415237154 | FLNA | c.2395G>C (p.Ala799Pro) c.2314G>C (p.Ala772Pro) c.2452G>C (n.2452G>C) c.279+2766G>C c.2674G>C (n.2674G>C) c.2351G>C (n.2351G>C) c.2194G>C (p.Ala732Pro) | |
X | g.154362670C>T | CA415237155 | FLNA | c.2395G>A (p.Ala799Thr) c.2314G>A (p.Ala772Thr) c.2452G>A (n.2452G>A) c.279+2766G>A c.2674G>A (n.2674G>A) c.2351G>A (n.2351G>A) c.2194G>A (p.Ala732Thr) | ClinVar |
X | g.154362671C>A | CA415237158 | FLNA | c.2394G>T (p.Glu798Asp) c.2313G>T (p.Glu771Asp) c.2451G>T (n.2451G>T) c.279+2765G>T c.2673G>T (n.2673G>T) c.2350G>T (n.2350G>T) c.2193G>T (p.Glu731Asp) | |
X | g.154362671C>G | CA415237160 | FLNA | c.2394G>C (p.Glu798Asp) c.2313G>C (p.Glu771Asp) c.2451G>C (n.2451G>C) c.279+2765G>C c.2673G>C (n.2673G>C) c.2350G>C (n.2350G>C) c.2193G>C (p.Glu731Asp) | |
X | g.154362671C>T | CA519708870 | FLNA | c.2394G>A (p.Glu798=) c.2313G>A (p.Glu771=) c.2451G>A (n.2451G>A) c.279+2765G>A c.2673G>A (n.2673G>A) c.2350G>A (n.2350G>A) c.2193G>A (p.Glu731=) | |
X | g.154362672T>A | CA415237163 | FLNA | c.2393A>T (p.Glu798Val) c.2312A>T (p.Glu771Val) c.2450A>T (n.2450A>T) c.279+2764A>T c.2672A>T (n.2672A>T) c.2349A>T (n.2349A>T) c.2192A>T (p.Glu731Val) | |
X | g.154362672T>C | CA415237165 | FLNA | c.2393A>G (p.Glu798Gly) c.2312A>G (p.Glu771Gly) c.2450A>G (n.2450A>G) c.279+2764A>G c.2672A>G (n.2672A>G) c.2349A>G (n.2349A>G) c.2192A>G (p.Glu731Gly) | |
X | g.154362672T>G | CA415237169 | FLNA | c.2393A>C (p.Glu798Ala) c.2312A>C (p.Glu771Ala) c.2450A>C (n.2450A>C) c.279+2764A>C c.2672A>C (n.2672A>C) c.2349A>C (n.2349A>C) c.2192A>C (p.Glu731Ala) | |
X | g.154362673C>A | CA415237170 | FLNA | c.2392G>T (p.Glu798Ter) c.2311G>T (p.Glu771Ter) c.2449G>T (n.2449G>T) c.279+2763G>T c.2671G>T (n.2671G>T) c.2348G>T (n.2348G>T) c.2191G>T (p.Glu731Ter) | |
X | g.154362673C= | CA2466656933 | FLNA | c.2392G= (p.Glu798=) c.2311G= (p.Glu771=) c.2449G= (n.2449G=) c.279+2763G= c.2671G= (n.2671G=) c.2348G= (n.2348G=) c.2191G= (p.Glu731=) | |
X | g.154362673C>G | CA415237172 | FLNA | c.2392G>C (p.Glu798Gln) c.2311G>C (p.Glu771Gln) c.2449G>C (n.2449G>C) c.279+2763G>C c.2671G>C (n.2671G>C) c.2348G>C (n.2348G>C) c.2191G>C (p.Glu731Gln) | |
X | g.154362673C>T | CA10560947 | FLNA | c.2392G>A (p.Glu798Lys) c.2311G>A (p.Glu771Lys) c.2449G>A (n.2449G>A) c.279+2763G>A c.2671G>A (n.2671G>A) c.2348G>A (n.2348G>A) c.2191G>A (p.Glu731Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
X | g.154362674G>A | CA337281833 | FLNA | c.2391C>T (p.Ala797=) c.2310C>T (p.Ala770=) c.2448C>T (n.2448C>T) c.279+2762C>T c.2670C>T (n.2670C>T) c.2347C>T (n.2347C>T) c.2190C>T (p.Ala730=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.154362674G>C | CA519708876 | FLNA | c.2391C>G (p.Ala797=) c.2310C>G (p.Ala770=) c.2448C>G (n.2448C>G) c.279+2762C>G c.2670C>G (n.2670C>G) c.2347C>G (n.2347C>G) c.2190C>G (p.Ala730=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
X | g.154362674G= | CA2466656934 | FLNA | c.2391C= (p.Ala797=) c.2310C= (p.Ala770=) c.2448C= (n.2448C=) c.279+2762C= c.2670C= (n.2670C=) c.2347C= (n.2347C=) c.2190C= (p.Ala730=) | |
X | g.154362674G>T | CA519708874 | FLNA | c.2391C>A (p.Ala797=) c.2310C>A (p.Ala770=) c.2448C>A (n.2448C>A) c.279+2762C>A c.2670C>A (n.2670C>A) c.2347C>A (n.2347C>A) c.2190C>A (p.Ala730=) | |
X | g.154362675G>A | CA415237177 | FLNA | c.2390C>T (p.Ala797Val) c.2309C>T (p.Ala770Val) c.2447C>T (n.2447C>T) c.279+2761C>T c.2669C>T (n.2669C>T) c.2346C>T (n.2346C>T) c.2189C>T (p.Ala730Val) | |
X | g.154362675G>C | CA415237179 | FLNA | c.2390C>G (p.Ala797Gly) c.2309C>G (p.Ala770Gly) c.2447C>G (n.2447C>G) c.279+2761C>G c.2669C>G (n.2669C>G) c.2346C>G (n.2346C>G) c.2189C>G (p.Ala730Gly) | |
X | g.154362675G>T | CA415237175 | FLNA | c.2390C>A (p.Ala797Asp) c.2309C>A (p.Ala770Asp) c.2447C>A (n.2447C>A) c.279+2761C>A c.2669C>A (n.2669C>A) c.2346C>A (n.2346C>A) c.2189C>A (p.Ala730Asp) | |
X | g.154362676C>A | CA415237182 | FLNA | c.2389G>T (p.Ala797Ser) c.2308G>T (p.Ala770Ser) c.2446G>T (n.2446G>T) c.279+2760G>T c.2668G>T (n.2668G>T) c.2345G>T (n.2345G>T) c.2188G>T (p.Ala730Ser) | ClinVar dbSNP COSMIC COSMIC |
X | g.154362676C= | CA2466656935 | FLNA | c.2389G= (p.Ala797=) c.2308G= (p.Ala770=) c.2446G= (n.2446G=) c.279+2760G= c.2668G= (n.2668G=) c.2345G= (n.2345G=) c.2188G= (p.Ala730=) | |
X | g.154362676C>G | CA415237184 | FLNA | c.2389G>C (p.Ala797Pro) c.2308G>C (p.Ala770Pro) c.2446G>C (n.2446G>C) c.279+2760G>C c.2668G>C (n.2668G>C) c.2345G>C (n.2345G>C) c.2188G>C (p.Ala730Pro) | |
X | g.154362676C>T | CA10560948 | FLNA | c.2389G>A (p.Ala797Thr) c.2308G>A (p.Ala770Thr) c.2446G>A (n.2446G>A) c.279+2760G>A c.2668G>A (n.2668G>A) c.2345G>A (n.2345G>A) c.2188G>A (p.Ala730Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |