Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.154349354T>C | CA180042 | FLNA | c.7732+8A>G (n.7732+8A>G) c.7756+8A>G (n.7756+8A>G) c.7675+8A>G (n.7675+8A>G) c.4537+8A>G (n.4537+8A>G) c.7813+8A>G (n.7813+8A>G) c.280-664A>G c.8035+8A>G (n.8035+8A>G) n.3474+8A>G c.7636+8A>G (n.7636+8A>G) c.7712+8A>G (n.7712+8A>G) n.911+8A>G n.4985+8A>G n.68-524A>G n.797+8A>G c.6760+8A>G (n.6760+8A>G) c.7660+8A>G (n.7660+8A>G) c.7582+8A>G (n.7582+8A>G) c.7558+8A>G (n.7558+8A>G) c.7555+8A>G (n.7555+8A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.154349354T>G | CA2602697404 | FLNA | c.7732+8A>C (n.7732+8A>C) c.7756+8A>C (n.7756+8A>C) c.7675+8A>C (n.7675+8A>C) c.4537+8A>C (n.4537+8A>C) c.7813+8A>C (n.7813+8A>C) c.280-664A>C c.8035+8A>C (n.8035+8A>C) n.3474+8A>C c.7636+8A>C (n.7636+8A>C) c.7712+8A>C (n.7712+8A>C) n.911+8A>C n.4985+8A>C n.68-524A>C n.797+8A>C c.6760+8A>C (n.6760+8A>C) c.7660+8A>C (n.7660+8A>C) c.7582+8A>C (n.7582+8A>C) c.7558+8A>C (n.7558+8A>C) c.7555+8A>C (n.7555+8A>C) | gnomAD v3 gnomAD v4 |
X | g.154349354T= | CA2466652023 | FLNA | c.7732+8A= (n.7732+8A=) c.7756+8A= (n.7756+8A=) c.7675+8A= (n.7675+8A=) c.4537+8A= (n.4537+8A=) c.7813+8A= (n.7813+8A=) c.280-664A= c.8035+8A= (n.8035+8A=) n.3474+8A= c.7636+8A= (n.7636+8A=) c.7712+8A= (n.7712+8A=) n.911+8A= n.4985+8A= n.68-524A= n.797+8A= c.6760+8A= (n.6760+8A=) c.7660+8A= (n.7660+8A=) c.7582+8A= (n.7582+8A=) c.7558+8A= (n.7558+8A=) c.7555+8A= (n.7555+8A=) | |
X | g.154349355T>A | CA10559847 | FLNA | c.7732+7A>T (n.7732+7A>T) c.7756+7A>T (n.7756+7A>T) c.7675+7A>T (n.7675+7A>T) c.4537+7A>T (n.4537+7A>T) c.7813+7A>T (n.7813+7A>T) c.280-665A>T c.8035+7A>T (n.8035+7A>T) n.3474+7A>T c.7636+7A>T (n.7636+7A>T) c.7712+7A>T (n.7712+7A>T) n.911+7A>T n.4985+7A>T n.68-525A>T n.797+7A>T c.6760+7A>T (n.6760+7A>T) c.7660+7A>T (n.7660+7A>T) c.7582+7A>T (n.7582+7A>T) c.7558+7A>T (n.7558+7A>T) c.7555+7A>T (n.7555+7A>T) | dbSNP ExAC gnomAD v4 |
X | g.154349355T= | CA2466652024 | FLNA | c.7732+7A= (n.7732+7A=) c.7756+7A= (n.7756+7A=) c.7675+7A= (n.7675+7A=) c.4537+7A= (n.4537+7A=) c.7813+7A= (n.7813+7A=) c.280-665A= c.8035+7A= (n.8035+7A=) n.3474+7A= c.7636+7A= (n.7636+7A=) c.7712+7A= (n.7712+7A=) n.911+7A= n.4985+7A= n.68-525A= n.797+7A= c.6760+7A= (n.6760+7A=) c.7660+7A= (n.7660+7A=) c.7582+7A= (n.7582+7A=) c.7558+7A= (n.7558+7A=) c.7555+7A= (n.7555+7A=) | |
X | g.154349356G>A | CA873333691 | FLNA | c.7732+6C>T (n.7732+6C>T) c.7756+6C>T (n.7756+6C>T) c.7675+6C>T (n.7675+6C>T) c.4537+6C>T (n.4537+6C>T) c.7813+6C>T (n.7813+6C>T) c.280-666C>T c.8035+6C>T (n.8035+6C>T) n.3474+6C>T c.7636+6C>T (n.7636+6C>T) c.7712+6C>T (n.7712+6C>T) n.911+6C>T n.4985+6C>T n.68-526C>T n.797+6C>T c.6760+6C>T (n.6760+6C>T) c.7660+6C>T (n.7660+6C>T) c.7582+6C>T (n.7582+6C>T) c.7558+6C>T (n.7558+6C>T) c.7555+6C>T (n.7555+6C>T) | dbSNP gnomAD v3 gnomAD v4 |
X | g.154349356G= | CA2466652025 | FLNA | c.7732+6C= (n.7732+6C=) c.7756+6C= (n.7756+6C=) c.7675+6C= (n.7675+6C=) c.4537+6C= (n.4537+6C=) c.7813+6C= (n.7813+6C=) c.280-666C= c.8035+6C= (n.8035+6C=) n.3474+6C= c.7636+6C= (n.7636+6C=) c.7712+6C= (n.7712+6C=) n.911+6C= n.4985+6C= n.68-526C= n.797+6C= c.6760+6C= (n.6760+6C=) c.7660+6C= (n.7660+6C=) c.7582+6C= (n.7582+6C=) c.7558+6C= (n.7558+6C=) c.7555+6C= (n.7555+6C=) | |
X | g.154349356G>T | CA873333694 | FLNA | c.7732+6C>A (n.7732+6C>A) c.7756+6C>A (n.7756+6C>A) c.7675+6C>A (n.7675+6C>A) c.4537+6C>A (n.4537+6C>A) c.7813+6C>A (n.7813+6C>A) c.280-666C>A c.8035+6C>A (n.8035+6C>A) n.3474+6C>A c.7636+6C>A (n.7636+6C>A) c.7712+6C>A (n.7712+6C>A) n.911+6C>A n.4985+6C>A n.68-526C>A n.797+6C>A c.6760+6C>A (n.6760+6C>A) c.7660+6C>A (n.7660+6C>A) c.7582+6C>A (n.7582+6C>A) c.7558+6C>A (n.7558+6C>A) c.7555+6C>A (n.7555+6C>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.154349357C>T | CA2695111068 | FLNA | c.7732+5G>A (n.7732+5G>A) c.7756+5G>A (n.7756+5G>A) c.7675+5G>A (n.7675+5G>A) c.4537+5G>A (n.4537+5G>A) c.7813+5G>A (n.7813+5G>A) c.280-667G>A c.8035+5G>A (n.8035+5G>A) n.3474+5G>A c.7636+5G>A (n.7636+5G>A) c.7712+5G>A (n.7712+5G>A) n.911+5G>A n.4985+5G>A n.68-527G>A n.797+5G>A c.6760+5G>A (n.6760+5G>A) c.7660+5G>A (n.7660+5G>A) c.7582+5G>A (n.7582+5G>A) c.7558+5G>A (n.7558+5G>A) c.7555+5G>A (n.7555+5G>A) | gnomAD v4 |
X | g.154349359del | CA2559804808 | FLNA | c.7732+5del (n.7732+5del) c.7756+5del (n.7756+5del) c.7675+5del (n.7675+5del) c.4537+5del (n.4537+5del) c.7813+5del (n.7813+5del) c.280-667del c.8035+5del (n.8035+5del) n.3474+5del c.7636+5del (n.7636+5del) c.7712+5del (n.7712+5del) n.911+5del n.4985+5del n.68-527del n.797+5del c.6760+5del (n.6760+5del) c.7660+5del (n.7660+5del) c.7582+5del (n.7582+5del) c.7558+5del (n.7558+5del) c.7555+5del (n.7555+5del) | gnomAD v4 |
X | g.154349358_154349359del | CA2695111067 | FLNA | c.7732+4_7732+5del (n.7732+4_7732+5del) c.7756+4_7756+5del (n.7756+4_7756+5del) c.7675+4_7675+5del (n.7675+4_7675+5del) c.4537+4_4537+5del (n.4537+4_4537+5del) c.7813+4_7813+5del (n.7813+4_7813+5del) c.280-668_280-667del c.8035+4_8035+5del (n.8035+4_8035+5del) n.3474+4_3474+5del c.7636+4_7636+5del (n.7636+4_7636+5del) c.7712+4_7712+5del (n.7712+4_7712+5del) n.911+4_911+5del n.4985+4_4985+5del n.68-528_68-527del n.797+4_797+5del c.6760+4_6760+5del (n.6760+4_6760+5del) c.7660+4_7660+5del (n.7660+4_7660+5del) c.7582+4_7582+5del (n.7582+4_7582+5del) c.7558+4_7558+5del (n.7558+4_7558+5del) c.7555+4_7555+5del (n.7555+4_7555+5del) | gnomAD v4 |
X | g.154349358C>A | CA2695111069 | FLNA | c.7732+4G>T (n.7732+4G>T) c.7756+4G>T (n.7756+4G>T) c.7675+4G>T (n.7675+4G>T) c.4537+4G>T (n.4537+4G>T) c.7813+4G>T (n.7813+4G>T) c.280-668G>T c.8035+4G>T (n.8035+4G>T) n.3474+4G>T c.7636+4G>T (n.7636+4G>T) c.7712+4G>T (n.7712+4G>T) n.911+4G>T n.4985+4G>T n.68-528G>T n.797+4G>T c.6760+4G>T (n.6760+4G>T) c.7660+4G>T (n.7660+4G>T) c.7582+4G>T (n.7582+4G>T) c.7558+4G>T (n.7558+4G>T) c.7555+4G>T (n.7555+4G>T) | gnomAD v4 |
X | g.154349359C= | CA2466652026 | FLNA | c.7732+3G= (n.7732+3G=) c.7756+3G= (n.7756+3G=) c.7675+3G= (n.7675+3G=) c.4537+3G= (n.4537+3G=) c.7813+3G= (n.7813+3G=) c.280-669G= c.8035+3G= (n.8035+3G=) n.3474+3G= c.7636+3G= (n.7636+3G=) c.7712+3G= (n.7712+3G=) n.911+3G= n.4985+3G= n.68-529G= n.797+3G= c.6760+3G= (n.6760+3G=) c.7660+3G= (n.7660+3G=) c.7582+3G= (n.7582+3G=) c.7558+3G= (n.7558+3G=) c.7555+3G= (n.7555+3G=) | |
X | g.154349359C>G | CA337272649 | FLNA | c.7732+3G>C (n.7732+3G>C) c.7756+3G>C (n.7756+3G>C) c.7675+3G>C (n.7675+3G>C) c.4537+3G>C (n.4537+3G>C) c.7813+3G>C (n.7813+3G>C) c.280-669G>C c.8035+3G>C (n.8035+3G>C) n.3474+3G>C c.7636+3G>C (n.7636+3G>C) c.7712+3G>C (n.7712+3G>C) n.911+3G>C n.4985+3G>C n.68-529G>C n.797+3G>C c.6760+3G>C (n.6760+3G>C) c.7660+3G>C (n.7660+3G>C) c.7582+3G>C (n.7582+3G>C) c.7558+3G>C (n.7558+3G>C) c.7555+3G>C (n.7555+3G>C) | dbSNP |
X | g.154349359C>T | CA337272651 | FLNA | c.7732+3G>A (n.7732+3G>A) c.7756+3G>A (n.7756+3G>A) c.7675+3G>A (n.7675+3G>A) c.4537+3G>A (n.4537+3G>A) c.7813+3G>A (n.7813+3G>A) c.280-669G>A c.8035+3G>A (n.8035+3G>A) n.3474+3G>A c.7636+3G>A (n.7636+3G>A) c.7712+3G>A (n.7712+3G>A) n.911+3G>A n.4985+3G>A n.68-529G>A n.797+3G>A c.6760+3G>A (n.6760+3G>A) c.7660+3G>A (n.7660+3G>A) c.7582+3G>A (n.7582+3G>A) c.7558+3G>A (n.7558+3G>A) c.7555+3G>A (n.7555+3G>A) | dbSNP |
X | g.154349360A= | CA2466652027 | FLNA | c.7732+2T= (n.7732+2T=) c.7756+2T= (n.7756+2T=) c.7675+2T= (n.7675+2T=) c.4537+2T= (n.4537+2T=) c.7813+2T= (n.7813+2T=) c.280-670T= c.8035+2T= (n.8035+2T=) n.3474+2T= c.7636+2T= (n.7636+2T=) c.7712+2T= (n.7712+2T=) n.911+2T= n.4985+2T= n.68-530T= n.797+2T= c.6760+2T= (n.6760+2T=) c.7660+2T= (n.7660+2T=) c.7582+2T= (n.7582+2T=) c.7558+2T= (n.7558+2T=) c.7555+2T= (n.7555+2T=) | |
X | g.154349360A>C | CA415179155 | FLNA | c.7732+2T>G (n.7732+2T>G) c.7756+2T>G (n.7756+2T>G) c.7675+2T>G (n.7675+2T>G) c.4537+2T>G (n.4537+2T>G) c.7813+2T>G (n.7813+2T>G) c.280-670T>G c.8035+2T>G (n.8035+2T>G) n.3474+2T>G c.7636+2T>G (n.7636+2T>G) c.7712+2T>G (n.7712+2T>G) n.911+2T>G n.4985+2T>G n.68-530T>G n.797+2T>G c.6760+2T>G (n.6760+2T>G) c.7660+2T>G (n.7660+2T>G) c.7582+2T>G (n.7582+2T>G) c.7558+2T>G (n.7558+2T>G) c.7555+2T>G (n.7555+2T>G) | |
X | g.154349360A>G | CA337272652 | FLNA | c.7732+2T>C (n.7732+2T>C) c.7756+2T>C (n.7756+2T>C) c.7675+2T>C (n.7675+2T>C) c.4537+2T>C (n.4537+2T>C) c.7813+2T>C (n.7813+2T>C) c.280-670T>C c.8035+2T>C (n.8035+2T>C) n.3474+2T>C c.7636+2T>C (n.7636+2T>C) c.7712+2T>C (n.7712+2T>C) n.911+2T>C n.4985+2T>C n.68-530T>C n.797+2T>C c.6760+2T>C (n.6760+2T>C) c.7660+2T>C (n.7660+2T>C) c.7582+2T>C (n.7582+2T>C) c.7558+2T>C (n.7558+2T>C) c.7555+2T>C (n.7555+2T>C) | dbSNP |
X | g.154349360A>T | CA337272653 | FLNA | c.7732+2T>A (n.7732+2T>A) c.7756+2T>A (n.7756+2T>A) c.7675+2T>A (n.7675+2T>A) c.4537+2T>A (n.4537+2T>A) c.7813+2T>A (n.7813+2T>A) c.280-670T>A c.8035+2T>A (n.8035+2T>A) n.3474+2T>A c.7636+2T>A (n.7636+2T>A) c.7712+2T>A (n.7712+2T>A) n.911+2T>A n.4985+2T>A n.68-530T>A n.797+2T>A c.6760+2T>A (n.6760+2T>A) c.7660+2T>A (n.7660+2T>A) c.7582+2T>A (n.7582+2T>A) c.7558+2T>A (n.7558+2T>A) c.7555+2T>A (n.7555+2T>A) | ClinVar dbSNP |
X | g.154349361C>A | CA415179161 | FLNA | c.7732+1G>T (n.7732+1G>T) c.7756+1G>T (n.7756+1G>T) c.7675+1G>T (n.7675+1G>T) c.4537+1G>T (n.4537+1G>T) c.7813+1G>T (n.7813+1G>T) c.280-671G>T c.8035+1G>T (n.8035+1G>T) n.3474+1G>T c.7636+1G>T (n.7636+1G>T) c.7712+1G>T (n.7712+1G>T) n.911+1G>T n.4985+1G>T n.68-531G>T n.797+1G>T c.6760+1G>T (n.6760+1G>T) c.7660+1G>T (n.7660+1G>T) c.7582+1G>T (n.7582+1G>T) c.7558+1G>T (n.7558+1G>T) c.7555+1G>T (n.7555+1G>T) | |
X | g.154349361C>G | CA415179173 | FLNA | c.7732+1G>C (n.7732+1G>C) c.7756+1G>C (n.7756+1G>C) c.7675+1G>C (n.7675+1G>C) c.4537+1G>C (n.4537+1G>C) c.7813+1G>C (n.7813+1G>C) c.280-671G>C c.8035+1G>C (n.8035+1G>C) n.3474+1G>C c.7636+1G>C (n.7636+1G>C) c.7712+1G>C (n.7712+1G>C) n.911+1G>C n.4985+1G>C n.68-531G>C n.797+1G>C c.6760+1G>C (n.6760+1G>C) c.7660+1G>C (n.7660+1G>C) c.7582+1G>C (n.7582+1G>C) c.7558+1G>C (n.7558+1G>C) c.7555+1G>C (n.7555+1G>C) | |
X | g.154349361C>T | CA415179177 | FLNA | c.7732+1G>A (n.7732+1G>A) c.7756+1G>A (n.7756+1G>A) c.7675+1G>A (n.7675+1G>A) c.4537+1G>A (n.4537+1G>A) c.7813+1G>A (n.7813+1G>A) c.280-671G>A c.8035+1G>A (n.8035+1G>A) n.3474+1G>A c.7636+1G>A (n.7636+1G>A) c.7712+1G>A (n.7712+1G>A) n.911+1G>A n.4985+1G>A n.68-531G>A n.797+1G>A c.6760+1G>A (n.6760+1G>A) c.7660+1G>A (n.7660+1G>A) c.7582+1G>A (n.7582+1G>A) c.7558+1G>A (n.7558+1G>A) c.7555+1G>A (n.7555+1G>A) | |
X | g.154349362C>A | CA415179193 | FLNA | c.7732G>T (p.Gly2578Cys) c.7756G>T (p.Gly2586Cys) c.7675G>T (p.Gly2559Cys) c.4537G>T (p.Gly1513Cys) c.7813G>T (n.7813G>T) c.280-672G>T c.8035G>T (n.8035G>T) n.3474G>T c.7636G>T (p.Gly2546Cys) c.7712G>T (n.7712G>T) n.911G>T n.4985G>T n.68-532G>T n.797G>T c.6760G>T (p.Gly2254Cys) c.7660G>T (p.Gly2554Cys) c.7582G>T (p.Gly2528Cys) c.7558G>T (p.Gly2520Cys) c.7555G>T (p.Gly2519Cys) | |
X | g.154349362C>G | CA415179194 | FLNA | c.7732G>C (p.Gly2578Arg) c.7756G>C (p.Gly2586Arg) c.7675G>C (p.Gly2559Arg) c.4537G>C (p.Gly1513Arg) c.7813G>C (n.7813G>C) c.280-672G>C c.8035G>C (n.8035G>C) n.3474G>C c.7636G>C (p.Gly2546Arg) c.7712G>C (n.7712G>C) n.911G>C n.4985G>C n.68-532G>C n.797G>C c.6760G>C (p.Gly2254Arg) c.7660G>C (p.Gly2554Arg) c.7582G>C (p.Gly2528Arg) c.7558G>C (p.Gly2520Arg) c.7555G>C (p.Gly2519Arg) | |
X | g.154349362C>T | CA415179195 | FLNA | c.7732G>A (p.Gly2578Ser) c.7756G>A (p.Gly2586Ser) c.7675G>A (p.Gly2559Ser) c.4537G>A (p.Gly1513Ser) c.7813G>A (n.7813G>A) c.280-672G>A c.8035G>A (n.8035G>A) n.3474G>A c.7636G>A (p.Gly2546Ser) c.7712G>A (n.7712G>A) n.911G>A n.4985G>A n.68-532G>A n.797G>A c.6760G>A (p.Gly2254Ser) c.7660G>A (p.Gly2554Ser) c.7582G>A (p.Gly2528Ser) c.7558G>A (p.Gly2520Ser) c.7555G>A (p.Gly2519Ser) | |
X | g.154349363T>A | CA519276272 | FLNA | c.7731A>T (p.Ala2577=) c.7755A>T (p.Ala2585=) c.7674A>T (p.Ala2558=) c.4536A>T (p.Ala1512=) c.7812A>T (n.7812A>T) c.280-673A>T c.8034A>T (n.8034A>T) n.3473A>T c.7635A>T (p.Ala2545=) c.7711A>T (n.7711A>T) n.910A>T n.4984A>T n.68-533A>T n.796A>T c.6759A>T (p.Ala2253=) c.7659A>T (p.Ala2553=) c.7581A>T (p.Ala2527=) c.7557A>T (p.Ala2519=) c.7554A>T (p.Ala2518=) | |
X | g.154349363T>C | CA519276273 | FLNA | c.7731A>G (p.Ala2577=) c.7755A>G (p.Ala2585=) c.7674A>G (p.Ala2558=) c.4536A>G (p.Ala1512=) c.7812A>G (n.7812A>G) c.280-673A>G c.8034A>G (n.8034A>G) n.3473A>G c.7635A>G (p.Ala2545=) c.7711A>G (n.7711A>G) n.910A>G n.4984A>G n.68-533A>G n.796A>G c.6759A>G (p.Ala2253=) c.7659A>G (p.Ala2553=) c.7581A>G (p.Ala2527=) c.7557A>G (p.Ala2519=) c.7554A>G (p.Ala2518=) | |
X | g.154349363T>G | CA519276274 | FLNA | c.7731A>C (p.Ala2577=) c.7755A>C (p.Ala2585=) c.7674A>C (p.Ala2558=) c.4536A>C (p.Ala1512=) c.7812A>C (n.7812A>C) c.280-673A>C c.8034A>C (n.8034A>C) n.3473A>C c.7635A>C (p.Ala2545=) c.7711A>C (n.7711A>C) n.910A>C n.4984A>C n.68-533A>C n.796A>C c.6759A>C (p.Ala2253=) c.7659A>C (p.Ala2553=) c.7581A>C (p.Ala2527=) c.7557A>C (p.Ala2519=) c.7554A>C (p.Ala2518=) | |
X | g.154349364G>A | CA415179211 | FLNA | c.7730C>T (p.Ala2577Val) c.7754C>T (p.Ala2585Val) c.7673C>T (p.Ala2558Val) c.4535C>T (p.Ala1512Val) c.7811C>T (n.7811C>T) c.280-674C>T c.8033C>T (n.8033C>T) n.3472C>T c.7634C>T (p.Ala2545Val) c.7710C>T (n.7710C>T) n.909C>T n.4983C>T n.68-534C>T n.795C>T c.6758C>T (p.Ala2253Val) c.7658C>T (p.Ala2553Val) c.7580C>T (p.Ala2527Val) c.7556C>T (p.Ala2519Val) c.7553C>T (p.Ala2518Val) | |
X | g.154349364G>C | CA415179201 | FLNA | c.7730C>G (p.Ala2577Gly) c.7754C>G (p.Ala2585Gly) c.7673C>G (p.Ala2558Gly) c.4535C>G (p.Ala1512Gly) c.7811C>G (n.7811C>G) c.280-674C>G c.8033C>G (n.8033C>G) n.3472C>G c.7634C>G (p.Ala2545Gly) c.7710C>G (n.7710C>G) n.909C>G n.4983C>G n.68-534C>G n.795C>G c.6758C>G (p.Ala2253Gly) c.7658C>G (p.Ala2553Gly) c.7580C>G (p.Ala2527Gly) c.7556C>G (p.Ala2519Gly) c.7553C>G (p.Ala2518Gly) | |
X | g.154349364G>T | CA415179207 | FLNA | c.7730C>A (p.Ala2577Glu) c.7754C>A (p.Ala2585Glu) c.7673C>A (p.Ala2558Glu) c.4535C>A (p.Ala1512Glu) c.7811C>A (n.7811C>A) c.280-674C>A c.8033C>A (n.8033C>A) n.3472C>A c.7634C>A (p.Ala2545Glu) c.7710C>A (n.7710C>A) n.909C>A n.4983C>A n.68-534C>A n.795C>A c.6758C>A (p.Ala2253Glu) c.7658C>A (p.Ala2553Glu) c.7580C>A (p.Ala2527Glu) c.7556C>A (p.Ala2519Glu) c.7553C>A (p.Ala2518Glu) | |
X | g.154349365C>A | CA415179217 | FLNA | c.7729G>T (p.Ala2577Ser) c.7753G>T (p.Ala2585Ser) c.7672G>T (p.Ala2558Ser) c.4534G>T (p.Ala1512Ser) c.7810G>T (n.7810G>T) c.280-675G>T c.8032G>T (n.8032G>T) n.3471G>T c.7633G>T (p.Ala2545Ser) c.7709G>T (n.7709G>T) n.908G>T n.4982G>T n.68-535G>T n.794G>T c.6757G>T (p.Ala2253Ser) c.7657G>T (p.Ala2553Ser) c.7579G>T (p.Ala2527Ser) c.7555G>T (p.Ala2519Ser) c.7552G>T (p.Ala2518Ser) | |
X | g.154349365C= | CA2466652028 | FLNA | c.7729G= (p.Ala2577=) c.7753G= (p.Ala2585=) c.7672G= (p.Ala2558=) c.4534G= (p.Ala1512=) c.7810G= (n.7810G=) c.280-675G= c.8032G= (n.8032G=) n.3471G= c.7633G= (p.Ala2545=) c.7709G= (n.7709G=) n.908G= n.4982G= n.68-535G= n.794G= c.6757G= (p.Ala2253=) c.7657G= (p.Ala2553=) c.7579G= (p.Ala2527=) c.7555G= (p.Ala2519=) c.7552G= (p.Ala2518=) | |
X | g.154349365C>G | CA415179224 | FLNA | c.7729G>C (p.Ala2577Pro) c.7753G>C (p.Ala2585Pro) c.7672G>C (p.Ala2558Pro) c.4534G>C (p.Ala1512Pro) c.7810G>C (n.7810G>C) c.280-675G>C c.8032G>C (n.8032G>C) n.3471G>C c.7633G>C (p.Ala2545Pro) c.7709G>C (n.7709G>C) n.908G>C n.4982G>C n.68-535G>C n.794G>C c.6757G>C (p.Ala2253Pro) c.7657G>C (p.Ala2553Pro) c.7579G>C (p.Ala2527Pro) c.7555G>C (p.Ala2519Pro) c.7552G>C (p.Ala2518Pro) | |
X | g.154349365C>T | CA415179233 | FLNA | c.7729G>A (p.Ala2577Thr) c.7753G>A (p.Ala2585Thr) c.7672G>A (p.Ala2558Thr) c.4534G>A (p.Ala1512Thr) c.7810G>A (n.7810G>A) c.280-675G>A c.8032G>A (n.8032G>A) n.3471G>A c.7633G>A (p.Ala2545Thr) c.7709G>A (n.7709G>A) n.908G>A n.4982G>A n.68-535G>A n.794G>A c.6757G>A (p.Ala2253Thr) c.7657G>A (p.Ala2553Thr) c.7579G>A (p.Ala2527Thr) c.7555G>A (p.Ala2519Thr) c.7552G>A (p.Ala2518Thr) | ClinVar dbSNP gnomAD v4 |
X | g.154349366T>A | CA415179246 | FLNA | c.7728A>T (p.Lys2576Asn) c.7752A>T (p.Lys2584Asn) c.7671A>T (p.Lys2557Asn) c.4533A>T (p.Lys1511Asn) c.7809A>T (n.7809A>T) c.280-676A>T c.8031A>T (n.8031A>T) n.3470A>T c.7632A>T (p.Lys2544Asn) c.7708A>T (n.7708A>T) n.907A>T n.4981A>T n.68-536A>T n.793A>T c.6756A>T (p.Lys2252Asn) c.7656A>T (p.Lys2552Asn) c.7578A>T (p.Lys2526Asn) c.7554A>T (p.Lys2518Asn) c.7551A>T (p.Lys2517Asn) | |
X | g.154349366T>C | CA519276275 | FLNA | c.7728A>G (p.Lys2576=) c.7752A>G (p.Lys2584=) c.7671A>G (p.Lys2557=) c.4533A>G (p.Lys1511=) c.7809A>G (n.7809A>G) c.280-676A>G c.8031A>G (n.8031A>G) n.3470A>G c.7632A>G (p.Lys2544=) c.7708A>G (n.7708A>G) n.907A>G n.4981A>G n.68-536A>G n.793A>G c.6756A>G (p.Lys2252=) c.7656A>G (p.Lys2552=) c.7578A>G (p.Lys2526=) c.7554A>G (p.Lys2518=) c.7551A>G (p.Lys2517=) | |
X | g.154349366T>G | CA415179249 | FLNA | c.7728A>C (p.Lys2576Asn) c.7752A>C (p.Lys2584Asn) c.7671A>C (p.Lys2557Asn) c.4533A>C (p.Lys1511Asn) c.7809A>C (n.7809A>C) c.280-676A>C c.8031A>C (n.8031A>C) n.3470A>C c.7632A>C (p.Lys2544Asn) c.7708A>C (n.7708A>C) n.907A>C n.4981A>C n.68-536A>C n.793A>C c.6756A>C (p.Lys2252Asn) c.7656A>C (p.Lys2552Asn) c.7578A>C (p.Lys2526Asn) c.7554A>C (p.Lys2518Asn) c.7551A>C (p.Lys2517Asn) | |
X | g.154349368del | CA2824281327 | FLNA | c.7728del (p.Ala2577GlnfsTer22) c.7752del (p.Ala2585GlnfsTer22) c.7671del (p.Ala2558GlnfsTer22) c.4533del (p.Ala1512GlnfsTer22) c.7809del (n.7809del) c.280-676del c.8031del (n.8031del) n.3470del c.7632del (p.Ala2545GlnfsTer22) c.7708del (n.7708del) n.907del n.4981del n.68-536del n.793del c.6756del (p.Ala2253GlnfsTer22) c.7656del (p.Ala2553GlnfsTer22) c.7578del (p.Ala2527GlnfsTer22) c.7554del (p.Ala2519GlnfsTer22) c.7551del (p.Ala2518GlnfsTer22) | |
X | g.154349367T>A | CA415179252 | FLNA | c.7727A>T (p.Lys2576Ile) c.7751A>T (p.Lys2584Ile) c.7670A>T (p.Lys2557Ile) c.4532A>T (p.Lys1511Ile) c.7808A>T (n.7808A>T) c.280-677A>T c.8030A>T (n.8030A>T) n.3469A>T c.7631A>T (p.Lys2544Ile) c.7707A>T (n.7707A>T) n.906A>T n.4980A>T n.68-537A>T n.792A>T c.6755A>T (p.Lys2252Ile) c.7655A>T (p.Lys2552Ile) c.7577A>T (p.Lys2526Ile) c.7553A>T (p.Lys2518Ile) c.7550A>T (p.Lys2517Ile) | |
X | g.154349367T>C | CA415179255 | FLNA | c.7727A>G (p.Lys2576Arg) c.7751A>G (p.Lys2584Arg) c.7670A>G (p.Lys2557Arg) c.4532A>G (p.Lys1511Arg) c.7808A>G (n.7808A>G) c.280-677A>G c.8030A>G (n.8030A>G) n.3469A>G c.7631A>G (p.Lys2544Arg) c.7707A>G (n.7707A>G) n.906A>G n.4980A>G n.68-537A>G n.792A>G c.6755A>G (p.Lys2252Arg) c.7655A>G (p.Lys2552Arg) c.7577A>G (p.Lys2526Arg) c.7553A>G (p.Lys2518Arg) c.7550A>G (p.Lys2517Arg) | |
X | g.154349367T>G | CA415179256 | FLNA | c.7727A>C (p.Lys2576Thr) c.7751A>C (p.Lys2584Thr) c.7670A>C (p.Lys2557Thr) c.4532A>C (p.Lys1511Thr) c.7808A>C (n.7808A>C) c.280-677A>C c.8030A>C (n.8030A>C) n.3469A>C c.7631A>C (p.Lys2544Thr) c.7707A>C (n.7707A>C) n.906A>C n.4980A>C n.68-537A>C n.792A>C c.6755A>C (p.Lys2252Thr) c.7655A>C (p.Lys2552Thr) c.7577A>C (p.Lys2526Thr) c.7553A>C (p.Lys2518Thr) c.7550A>C (p.Lys2517Thr) | |
X | g.154349368T>A | CA415179262 | FLNA | c.7726A>T (p.Lys2576Ter) c.7750A>T (p.Lys2584Ter) c.7669A>T (p.Lys2557Ter) c.4531A>T (p.Lys1511Ter) c.7807A>T (n.7807A>T) c.280-678A>T c.8029A>T (n.8029A>T) n.3468A>T c.7630A>T (p.Lys2544Ter) c.7706A>T (n.7706A>T) n.905A>T n.4979A>T n.68-538A>T n.791A>T c.6754A>T (p.Lys2252Ter) c.7654A>T (p.Lys2552Ter) c.7576A>T (p.Lys2526Ter) c.7552A>T (p.Lys2518Ter) c.7549A>T (p.Lys2517Ter) | |
X | g.154349368T>C | CA415179266 | FLNA | c.7726A>G (p.Lys2576Glu) c.7750A>G (p.Lys2584Glu) c.7669A>G (p.Lys2557Glu) c.4531A>G (p.Lys1511Glu) c.7807A>G (n.7807A>G) c.280-678A>G c.8029A>G (n.8029A>G) n.3468A>G c.7630A>G (p.Lys2544Glu) c.7706A>G (n.7706A>G) n.905A>G n.4979A>G n.68-538A>G n.791A>G c.6754A>G (p.Lys2252Glu) c.7654A>G (p.Lys2552Glu) c.7576A>G (p.Lys2526Glu) c.7552A>G (p.Lys2518Glu) c.7549A>G (p.Lys2517Glu) | |
X | g.154349368T>G | CA415179267 | FLNA | c.7726A>C (p.Lys2576Gln) c.7750A>C (p.Lys2584Gln) c.7669A>C (p.Lys2557Gln) c.4531A>C (p.Lys1511Gln) c.7807A>C (n.7807A>C) c.280-678A>C c.8029A>C (n.8029A>C) n.3468A>C c.7630A>C (p.Lys2544Gln) c.7706A>C (n.7706A>C) n.905A>C n.4979A>C n.68-538A>C n.791A>C c.6754A>C (p.Lys2252Gln) c.7654A>C (p.Lys2552Gln) c.7576A>C (p.Lys2526Gln) c.7552A>C (p.Lys2518Gln) c.7549A>C (p.Lys2517Gln) | |
X | g.154349369G>A | CA519276276 | FLNA | c.7725C>T (p.Ser2575=) c.7749C>T (p.Ser2583=) c.7668C>T (p.Ser2556=) c.4530C>T (p.Ser1510=) c.7806C>T (n.7806C>T) c.280-679C>T c.8028C>T (n.8028C>T) n.3467C>T c.7629C>T (p.Ser2543=) c.7705C>T (n.7705C>T) n.904C>T n.4978C>T n.68-539C>T n.790C>T c.6753C>T (p.Ser2251=) c.7653C>T (p.Ser2551=) c.7575C>T (p.Ser2525=) c.7551C>T (p.Ser2517=) c.7548C>T (p.Ser2516=) | |
X | g.154349369G>C | CA415179268 | FLNA | c.7725C>G (p.Ser2575Arg) c.7749C>G (p.Ser2583Arg) c.7668C>G (p.Ser2556Arg) c.4530C>G (p.Ser1510Arg) c.7806C>G (n.7806C>G) c.280-679C>G c.8028C>G (n.8028C>G) n.3467C>G c.7629C>G (p.Ser2543Arg) c.7705C>G (n.7705C>G) n.904C>G n.4978C>G n.68-539C>G n.790C>G c.6753C>G (p.Ser2251Arg) c.7653C>G (p.Ser2551Arg) c.7575C>G (p.Ser2525Arg) c.7551C>G (p.Ser2517Arg) c.7548C>G (p.Ser2516Arg) | |
X | g.154349369G>T | CA415179272 | FLNA | c.7725C>A (p.Ser2575Arg) c.7749C>A (p.Ser2583Arg) c.7668C>A (p.Ser2556Arg) c.4530C>A (p.Ser1510Arg) c.7806C>A (n.7806C>A) c.280-679C>A c.8028C>A (n.8028C>A) n.3467C>A c.7629C>A (p.Ser2543Arg) c.7705C>A (n.7705C>A) n.904C>A n.4978C>A n.68-539C>A n.790C>A c.6753C>A (p.Ser2251Arg) c.7653C>A (p.Ser2551Arg) c.7575C>A (p.Ser2525Arg) c.7551C>A (p.Ser2517Arg) c.7548C>A (p.Ser2516Arg) | |
X | g.154349370C>A | CA415179278 | FLNA | c.7724G>T (p.Ser2575Ile) c.7748G>T (p.Ser2583Ile) c.7667G>T (p.Ser2556Ile) c.4529G>T (p.Ser1510Ile) c.7805G>T (n.7805G>T) c.280-680G>T c.8027G>T (n.8027G>T) n.3466G>T c.7628G>T (p.Ser2543Ile) c.7704G>T (n.7704G>T) n.903G>T n.4977G>T n.68-540G>T n.789G>T c.6752G>T (p.Ser2251Ile) c.7652G>T (p.Ser2551Ile) c.7574G>T (p.Ser2525Ile) c.7550G>T (p.Ser2517Ile) c.7547G>T (p.Ser2516Ile) | |
X | g.154349370C>G | CA415179282 | FLNA | c.7724G>C (p.Ser2575Thr) c.7748G>C (p.Ser2583Thr) c.7667G>C (p.Ser2556Thr) c.4529G>C (p.Ser1510Thr) c.7805G>C (n.7805G>C) c.280-680G>C c.8027G>C (n.8027G>C) n.3466G>C c.7628G>C (p.Ser2543Thr) c.7704G>C (n.7704G>C) n.903G>C n.4977G>C n.68-540G>C n.789G>C c.6752G>C (p.Ser2251Thr) c.7652G>C (p.Ser2551Thr) c.7574G>C (p.Ser2525Thr) c.7550G>C (p.Ser2517Thr) c.7547G>C (p.Ser2516Thr) | |
X | g.154349370C>T | CA415179294 | FLNA | c.7724G>A (p.Ser2575Asn) c.7748G>A (p.Ser2583Asn) c.7667G>A (p.Ser2556Asn) c.4529G>A (p.Ser1510Asn) c.7805G>A (n.7805G>A) c.280-680G>A c.8027G>A (n.8027G>A) n.3466G>A c.7628G>A (p.Ser2543Asn) c.7704G>A (n.7704G>A) n.903G>A n.4977G>A n.68-540G>A n.789G>A c.6752G>A (p.Ser2251Asn) c.7652G>A (p.Ser2551Asn) c.7574G>A (p.Ser2525Asn) c.7550G>A (p.Ser2517Asn) c.7547G>A (p.Ser2516Asn) | |
X | g.154349371T>A | CA415179299 | FLNA | c.7723A>T (p.Ser2575Cys) c.7747A>T (p.Ser2583Cys) c.7666A>T (p.Ser2556Cys) c.4528A>T (p.Ser1510Cys) c.7804A>T (n.7804A>T) c.280-681A>T c.8026A>T (n.8026A>T) n.3465A>T c.7627A>T (p.Ser2543Cys) c.7703A>T (n.7703A>T) n.902A>T n.4976A>T n.68-541A>T n.788A>T c.6751A>T (p.Ser2251Cys) c.7651A>T (p.Ser2551Cys) c.7573A>T (p.Ser2525Cys) c.7549A>T (p.Ser2517Cys) c.7546A>T (p.Ser2516Cys) | |
X | g.154349371T>C | CA415179302 | FLNA | c.7723A>G (p.Ser2575Gly) c.7747A>G (p.Ser2583Gly) c.7666A>G (p.Ser2556Gly) c.4528A>G (p.Ser1510Gly) c.7804A>G (n.7804A>G) c.280-681A>G c.8026A>G (n.8026A>G) n.3465A>G c.7627A>G (p.Ser2543Gly) c.7703A>G (n.7703A>G) n.902A>G n.4976A>G n.68-541A>G n.788A>G c.6751A>G (p.Ser2251Gly) c.7651A>G (p.Ser2551Gly) c.7573A>G (p.Ser2525Gly) c.7549A>G (p.Ser2517Gly) c.7546A>G (p.Ser2516Gly) | gnomAD v4 |
X | g.154349371T>G | CA415179306 | FLNA | c.7723A>C (p.Ser2575Arg) c.7747A>C (p.Ser2583Arg) c.7666A>C (p.Ser2556Arg) c.4528A>C (p.Ser1510Arg) c.7804A>C (n.7804A>C) c.280-681A>C c.8026A>C (n.8026A>C) n.3465A>C c.7627A>C (p.Ser2543Arg) c.7703A>C (n.7703A>C) n.902A>C n.4976A>C n.68-541A>C n.788A>C c.6751A>C (p.Ser2251Arg) c.7651A>C (p.Ser2551Arg) c.7573A>C (p.Ser2525Arg) c.7549A>C (p.Ser2517Arg) c.7546A>C (p.Ser2516Arg) | |
X | g.154349372G>A | CA519276277 | FLNA | c.7722C>T (p.Cys2574=) c.7746C>T (p.Cys2582=) c.7665C>T (p.Cys2555=) c.4527C>T (p.Cys1509=) c.7803C>T (n.7803C>T) c.280-682C>T c.8025C>T (n.8025C>T) n.3464C>T c.7626C>T (p.Cys2542=) c.7702C>T (n.7702C>T) n.901C>T n.4975C>T n.68-542C>T n.787C>T c.6750C>T (p.Cys2250=) c.7650C>T (p.Cys2550=) c.7572C>T (p.Cys2524=) c.7548C>T (p.Cys2516=) c.7545C>T (p.Cys2515=) | |
X | g.154349372G>C | CA415179313 | FLNA | c.7722C>G (p.Cys2574Trp) c.7746C>G (p.Cys2582Trp) c.7665C>G (p.Cys2555Trp) c.4527C>G (p.Cys1509Trp) c.7803C>G (n.7803C>G) c.280-682C>G c.8025C>G (n.8025C>G) n.3464C>G c.7626C>G (p.Cys2542Trp) c.7702C>G (n.7702C>G) n.901C>G n.4975C>G n.68-542C>G n.787C>G c.6750C>G (p.Cys2250Trp) c.7650C>G (p.Cys2550Trp) c.7572C>G (p.Cys2524Trp) c.7548C>G (p.Cys2516Trp) c.7545C>G (p.Cys2515Trp) | |
X | g.154349372G>T | CA415179316 | FLNA | c.7722C>A (p.Cys2574Ter) c.7746C>A (p.Cys2582Ter) c.7665C>A (p.Cys2555Ter) c.4527C>A (p.Cys1509Ter) c.7803C>A (n.7803C>A) c.280-682C>A c.8025C>A (n.8025C>A) n.3464C>A c.7626C>A (p.Cys2542Ter) c.7702C>A (n.7702C>A) n.901C>A n.4975C>A n.68-542C>A n.787C>A c.6750C>A (p.Cys2250Ter) c.7650C>A (p.Cys2550Ter) c.7572C>A (p.Cys2524Ter) c.7548C>A (p.Cys2516Ter) c.7545C>A (p.Cys2515Ter) | |
X | g.154349373C>A | CA415179320 | FLNA | c.7721G>T (p.Cys2574Phe) c.7745G>T (p.Cys2582Phe) c.7664G>T (p.Cys2555Phe) c.4526G>T (p.Cys1509Phe) c.7802G>T (n.7802G>T) c.280-683G>T c.8024G>T (n.8024G>T) n.3463G>T c.7625G>T (p.Cys2542Phe) c.7701G>T (n.7701G>T) n.900G>T n.4974G>T n.68-543G>T n.786G>T c.6749G>T (p.Cys2250Phe) c.7649G>T (p.Cys2550Phe) c.7571G>T (p.Cys2524Phe) c.7547G>T (p.Cys2516Phe) c.7544G>T (p.Cys2515Phe) | |
X | g.154349373C>G | CA415179322 | FLNA | c.7721G>C (p.Cys2574Ser) c.7745G>C (p.Cys2582Ser) c.7664G>C (p.Cys2555Ser) c.4526G>C (p.Cys1509Ser) c.7802G>C (n.7802G>C) c.280-683G>C c.8024G>C (n.8024G>C) n.3463G>C c.7625G>C (p.Cys2542Ser) c.7701G>C (n.7701G>C) n.900G>C n.4974G>C n.68-543G>C n.786G>C c.6749G>C (p.Cys2250Ser) c.7649G>C (p.Cys2550Ser) c.7571G>C (p.Cys2524Ser) c.7547G>C (p.Cys2516Ser) c.7544G>C (p.Cys2515Ser) | |
X | g.154349373C>T | CA415179325 | FLNA | c.7721G>A (p.Cys2574Tyr) c.7745G>A (p.Cys2582Tyr) c.7664G>A (p.Cys2555Tyr) c.4526G>A (p.Cys1509Tyr) c.7802G>A (n.7802G>A) c.280-683G>A c.8024G>A (n.8024G>A) n.3463G>A c.7625G>A (p.Cys2542Tyr) c.7701G>A (n.7701G>A) n.900G>A n.4974G>A n.68-543G>A n.786G>A c.6749G>A (p.Cys2250Tyr) c.7649G>A (p.Cys2550Tyr) c.7571G>A (p.Cys2524Tyr) c.7547G>A (p.Cys2516Tyr) c.7544G>A (p.Cys2515Tyr) | |
X | g.154349374A>C | CA415179328 | FLNA | c.7720T>G (p.Cys2574Gly) c.7744T>G (p.Cys2582Gly) c.7663T>G (p.Cys2555Gly) c.4525T>G (p.Cys1509Gly) c.7801T>G (n.7801T>G) c.280-684T>G c.8023T>G (n.8023T>G) n.3462T>G c.7624T>G (p.Cys2542Gly) c.7700T>G (n.7700T>G) n.899T>G n.4973T>G n.68-544T>G n.785T>G c.6748T>G (p.Cys2250Gly) c.7648T>G (p.Cys2550Gly) c.7570T>G (p.Cys2524Gly) c.7546T>G (p.Cys2516Gly) c.7543T>G (p.Cys2515Gly) | |
X | g.154349374A>G | CA415179330 | FLNA | c.7720T>C (p.Cys2574Arg) c.7744T>C (p.Cys2582Arg) c.7663T>C (p.Cys2555Arg) c.4525T>C (p.Cys1509Arg) c.7801T>C (n.7801T>C) c.280-684T>C c.8023T>C (n.8023T>C) n.3462T>C c.7624T>C (p.Cys2542Arg) c.7700T>C (n.7700T>C) n.899T>C n.4973T>C n.68-544T>C n.785T>C c.6748T>C (p.Cys2250Arg) c.7648T>C (p.Cys2550Arg) c.7570T>C (p.Cys2524Arg) c.7546T>C (p.Cys2516Arg) c.7543T>C (p.Cys2515Arg) | |
X | g.154349374A>T | CA415179331 | FLNA | c.7720T>A (p.Cys2574Ser) c.7744T>A (p.Cys2582Ser) c.7663T>A (p.Cys2555Ser) c.4525T>A (p.Cys1509Ser) c.7801T>A (n.7801T>A) c.280-684T>A c.8023T>A (n.8023T>A) n.3462T>A c.7624T>A (p.Cys2542Ser) c.7700T>A (n.7700T>A) n.899T>A n.4973T>A n.68-544T>A n.785T>A c.6748T>A (p.Cys2250Ser) c.7648T>A (p.Cys2550Ser) c.7570T>A (p.Cys2524Ser) c.7546T>A (p.Cys2516Ser) c.7543T>A (p.Cys2515Ser) | |
X | g.154349375G>A | CA519276278 | FLNA | c.7719C>T (p.Asp2573=) c.7743C>T (p.Asp2581=) c.7662C>T (p.Asp2554=) c.4524C>T (p.Asp1508=) c.7800C>T (n.7800C>T) c.280-685C>T c.8022C>T (n.8022C>T) n.3461C>T c.7623C>T (p.Asp2541=) c.7699C>T (n.7699C>T) n.898C>T n.4972C>T n.68-545C>T n.784C>T c.6747C>T (p.Asp2249=) c.7647C>T (p.Asp2549=) c.7569C>T (p.Asp2523=) c.7545C>T (p.Asp2515=) c.7542C>T (p.Asp2514=) | gnomAD v4 |
X | g.154349375G>C | CA415179332 | FLNA | c.7719C>G (p.Asp2573Glu) c.7743C>G (p.Asp2581Glu) c.7662C>G (p.Asp2554Glu) c.4524C>G (p.Asp1508Glu) c.7800C>G (n.7800C>G) c.280-685C>G c.8022C>G (n.8022C>G) n.3461C>G c.7623C>G (p.Asp2541Glu) c.7699C>G (n.7699C>G) n.898C>G n.4972C>G n.68-545C>G n.784C>G c.6747C>G (p.Asp2249Glu) c.7647C>G (p.Asp2549Glu) c.7569C>G (p.Asp2523Glu) c.7545C>G (p.Asp2515Glu) c.7542C>G (p.Asp2514Glu) | |
X | g.154349375G>T | CA415179334 | FLNA | c.7719C>A (p.Asp2573Glu) c.7743C>A (p.Asp2581Glu) c.7662C>A (p.Asp2554Glu) c.4524C>A (p.Asp1508Glu) c.7800C>A (n.7800C>A) c.280-685C>A c.8022C>A (n.8022C>A) n.3461C>A c.7623C>A (p.Asp2541Glu) c.7699C>A (n.7699C>A) n.898C>A n.4972C>A n.68-545C>A n.784C>A c.6747C>A (p.Asp2249Glu) c.7647C>A (p.Asp2549Glu) c.7569C>A (p.Asp2523Glu) c.7545C>A (p.Asp2515Glu) c.7542C>A (p.Asp2514Glu) | gnomAD v4 |
X | g.154349376T>A | CA415179343 | FLNA | c.7718A>T (p.Asp2573Val) c.7742A>T (p.Asp2581Val) c.7661A>T (p.Asp2554Val) c.4523A>T (p.Asp1508Val) c.7799A>T (n.7799A>T) c.280-686A>T c.8021A>T (n.8021A>T) n.3460A>T c.7622A>T (p.Asp2541Val) c.7698A>T (n.7698A>T) n.897A>T n.4971A>T n.68-546A>T n.783A>T c.6746A>T (p.Asp2249Val) c.7646A>T (p.Asp2549Val) c.7568A>T (p.Asp2523Val) c.7544A>T (p.Asp2515Val) c.7541A>T (p.Asp2514Val) | |
X | g.154349376T>C | CA415179344 | FLNA | c.7718A>G (p.Asp2573Gly) c.7742A>G (p.Asp2581Gly) c.7661A>G (p.Asp2554Gly) c.4523A>G (p.Asp1508Gly) c.7799A>G (n.7799A>G) c.280-686A>G c.8021A>G (n.8021A>G) n.3460A>G c.7622A>G (p.Asp2541Gly) c.7698A>G (n.7698A>G) n.897A>G n.4971A>G n.68-546A>G n.783A>G c.6746A>G (p.Asp2249Gly) c.7646A>G (p.Asp2549Gly) c.7568A>G (p.Asp2523Gly) c.7544A>G (p.Asp2515Gly) c.7541A>G (p.Asp2514Gly) | |
X | g.154349376T>G | CA415179345 | FLNA | c.7718A>C (p.Asp2573Ala) c.7742A>C (p.Asp2581Ala) c.7661A>C (p.Asp2554Ala) c.4523A>C (p.Asp1508Ala) c.7799A>C (n.7799A>C) c.280-686A>C c.8021A>C (n.8021A>C) n.3460A>C c.7622A>C (p.Asp2541Ala) c.7698A>C (n.7698A>C) n.897A>C n.4971A>C n.68-546A>C n.783A>C c.6746A>C (p.Asp2249Ala) c.7646A>C (p.Asp2549Ala) c.7568A>C (p.Asp2523Ala) c.7544A>C (p.Asp2515Ala) c.7541A>C (p.Asp2514Ala) | |
X | g.154349377C>A | CA415179348 | FLNA | c.7717G>T (p.Asp2573Tyr) c.7741G>T (p.Asp2581Tyr) c.7660G>T (p.Asp2554Tyr) c.4522G>T (p.Asp1508Tyr) c.7798G>T (n.7798G>T) c.280-687G>T c.8020G>T (n.8020G>T) n.3459G>T c.7621G>T (p.Asp2541Tyr) c.7697G>T (n.7697G>T) n.896G>T n.4970G>T n.68-547G>T n.782G>T c.6745G>T (p.Asp2249Tyr) c.7645G>T (p.Asp2549Tyr) c.7567G>T (p.Asp2523Tyr) c.7543G>T (p.Asp2515Tyr) c.7540G>T (p.Asp2514Tyr) | |
X | g.154349377C>G | CA415179351 | FLNA | c.7717G>C (p.Asp2573His) c.7741G>C (p.Asp2581His) c.7660G>C (p.Asp2554His) c.4522G>C (p.Asp1508His) c.7798G>C (n.7798G>C) c.280-687G>C c.8020G>C (n.8020G>C) n.3459G>C c.7621G>C (p.Asp2541His) c.7697G>C (n.7697G>C) n.896G>C n.4970G>C n.68-547G>C n.782G>C c.6745G>C (p.Asp2249His) c.7645G>C (p.Asp2549His) c.7567G>C (p.Asp2523His) c.7543G>C (p.Asp2515His) c.7540G>C (p.Asp2514His) | COSMIC |
X | g.154349377C>T | CA415179354 | FLNA | c.7717G>A (p.Asp2573Asn) c.7741G>A (p.Asp2581Asn) c.7660G>A (p.Asp2554Asn) c.4522G>A (p.Asp1508Asn) c.7798G>A (n.7798G>A) c.280-687G>A c.8020G>A (n.8020G>A) n.3459G>A c.7621G>A (p.Asp2541Asn) c.7697G>A (n.7697G>A) n.896G>A n.4970G>A n.68-547G>A n.782G>A c.6745G>A (p.Asp2249Asn) c.7645G>A (p.Asp2549Asn) c.7567G>A (p.Asp2523Asn) c.7543G>A (p.Asp2515Asn) c.7540G>A (p.Asp2514Asn) | |
X | g.154349378T>A | CA519276279 | FLNA | c.7716A>T (p.Val2572=) c.7740A>T (p.Val2580=) c.7659A>T (p.Val2553=) c.4521A>T (p.Val1507=) c.7797A>T (n.7797A>T) c.280-688A>T c.8019A>T (n.8019A>T) n.3458A>T c.7620A>T (p.Val2540=) c.7696A>T (n.7696A>T) n.895A>T n.4969A>T n.68-548A>T n.781A>T c.6744A>T (p.Val2248=) c.7644A>T (p.Val2548=) c.7566A>T (p.Val2522=) c.7542A>T (p.Val2514=) c.7539A>T (p.Val2513=) | |
X | g.154349378T>C | CA519276280 | FLNA | c.7716A>G (p.Val2572=) c.7740A>G (p.Val2580=) c.7659A>G (p.Val2553=) c.4521A>G (p.Val1507=) c.7797A>G (n.7797A>G) c.280-688A>G c.8019A>G (n.8019A>G) n.3458A>G c.7620A>G (p.Val2540=) c.7696A>G (n.7696A>G) n.895A>G n.4969A>G n.68-548A>G n.781A>G c.6744A>G (p.Val2248=) c.7644A>G (p.Val2548=) c.7566A>G (p.Val2522=) c.7542A>G (p.Val2514=) c.7539A>G (p.Val2513=) | |
X | g.154349378T>G | CA519276281 | FLNA | c.7716A>C (p.Val2572=) c.7740A>C (p.Val2580=) c.7659A>C (p.Val2553=) c.4521A>C (p.Val1507=) c.7797A>C (n.7797A>C) c.280-688A>C c.8019A>C (n.8019A>C) n.3458A>C c.7620A>C (p.Val2540=) c.7696A>C (n.7696A>C) n.895A>C n.4969A>C n.68-548A>C n.781A>C c.6744A>C (p.Val2248=) c.7644A>C (p.Val2548=) c.7566A>C (p.Val2522=) c.7542A>C (p.Val2514=) c.7539A>C (p.Val2513=) | |
X | g.154349379A>C | CA415179361 | FLNA | c.7715T>G (p.Val2572Gly) c.7739T>G (p.Val2580Gly) c.7658T>G (p.Val2553Gly) c.4520T>G (p.Val1507Gly) c.7796T>G (n.7796T>G) c.280-689T>G c.8018T>G (n.8018T>G) n.3457T>G c.7619T>G (p.Val2540Gly) c.7695T>G (n.7695T>G) n.894T>G n.4968T>G n.68-549T>G n.780T>G c.6743T>G (p.Val2248Gly) c.7643T>G (p.Val2548Gly) c.7565T>G (p.Val2522Gly) c.7541T>G (p.Val2514Gly) c.7538T>G (p.Val2513Gly) | |
X | g.154349379A>G | CA415179362 | FLNA | c.7715T>C (p.Val2572Ala) c.7739T>C (p.Val2580Ala) c.7658T>C (p.Val2553Ala) c.4520T>C (p.Val1507Ala) c.7796T>C (n.7796T>C) c.280-689T>C c.8018T>C (n.8018T>C) n.3457T>C c.7619T>C (p.Val2540Ala) c.7695T>C (n.7695T>C) n.894T>C n.4968T>C n.68-549T>C n.780T>C c.6743T>C (p.Val2248Ala) c.7643T>C (p.Val2548Ala) c.7565T>C (p.Val2522Ala) c.7541T>C (p.Val2514Ala) c.7538T>C (p.Val2513Ala) | ClinVar |
X | g.154349379A>T | CA415179363 | FLNA | c.7715T>A (p.Val2572Glu) c.7739T>A (p.Val2580Glu) c.7658T>A (p.Val2553Glu) c.4520T>A (p.Val1507Glu) c.7796T>A (n.7796T>A) c.280-689T>A c.8018T>A (n.8018T>A) n.3457T>A c.7619T>A (p.Val2540Glu) c.7695T>A (n.7695T>A) n.894T>A n.4968T>A n.68-549T>A n.780T>A c.6743T>A (p.Val2248Glu) c.7643T>A (p.Val2548Glu) c.7565T>A (p.Val2522Glu) c.7541T>A (p.Val2514Glu) c.7538T>A (p.Val2513Glu) | |
X | g.154349380C>A | CA415179366 | FLNA | c.7714G>T (p.Val2572Leu) c.7738G>T (p.Val2580Leu) c.7657G>T (p.Val2553Leu) c.4519G>T (p.Val1507Leu) c.7795G>T (n.7795G>T) c.280-690G>T c.8017G>T (n.8017G>T) n.3456G>T c.7618G>T (p.Val2540Leu) c.7694G>T (n.7694G>T) n.893G>T n.4967G>T n.68-550G>T n.779G>T c.6742G>T (p.Val2248Leu) c.7642G>T (p.Val2548Leu) c.7564G>T (p.Val2522Leu) c.7540G>T (p.Val2514Leu) c.7537G>T (p.Val2513Leu) | |
X | g.154349380C= | CA2466652029 | FLNA | c.7714G= (p.Val2572=) c.7738G= (p.Val2580=) c.7657G= (p.Val2553=) c.4519G= (p.Val1507=) c.7795G= (n.7795G=) c.280-690G= c.8017G= (n.8017G=) n.3456G= c.7618G= (p.Val2540=) c.7694G= (n.7694G=) n.893G= n.4967G= n.68-550G= n.779G= c.6742G= (p.Val2248=) c.7642G= (p.Val2548=) c.7564G= (p.Val2522=) c.7540G= (p.Val2514=) c.7537G= (p.Val2513=) | |
X | g.154349380C>G | CA415179369 | FLNA | c.7714G>C (p.Val2572Leu) c.7738G>C (p.Val2580Leu) c.7657G>C (p.Val2553Leu) c.4519G>C (p.Val1507Leu) c.7795G>C (n.7795G>C) c.280-690G>C c.8017G>C (n.8017G>C) n.3456G>C c.7618G>C (p.Val2540Leu) c.7694G>C (n.7694G>C) n.893G>C n.4967G>C n.68-550G>C n.779G>C c.6742G>C (p.Val2248Leu) c.7642G>C (p.Val2548Leu) c.7564G>C (p.Val2522Leu) c.7540G>C (p.Val2514Leu) c.7537G>C (p.Val2513Leu) | |
X | g.154349380C>T | CA10559848 | FLNA | c.7714G>A (p.Val2572Ile) c.7738G>A (p.Val2580Ile) c.7657G>A (p.Val2553Ile) c.4519G>A (p.Val1507Ile) c.7795G>A (n.7795G>A) c.280-690G>A c.8017G>A (n.8017G>A) n.3456G>A c.7618G>A (p.Val2540Ile) c.7694G>A (n.7694G>A) n.893G>A n.4967G>A n.68-550G>A n.779G>A c.6742G>A (p.Val2248Ile) c.7642G>A (p.Val2548Ile) c.7564G>A (p.Val2522Ile) c.7540G>A (p.Val2514Ile) c.7537G>A (p.Val2513Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.154349381T>A | CA519276282 | FLNA | c.7713A>T (p.Thr2571=) c.7737A>T (p.Thr2579=) c.7656A>T (p.Thr2552=) c.4518A>T (p.Thr1506=) c.7794A>T (n.7794A>T) c.280-691A>T c.8016A>T (n.8016A>T) n.3455A>T c.7617A>T (p.Thr2539=) c.7693A>T (n.7693A>T) n.892A>T n.4966A>T n.68-551A>T n.778A>T c.6741A>T (p.Thr2247=) c.7641A>T (p.Thr2547=) c.7563A>T (p.Thr2521=) c.7539A>T (p.Thr2513=) c.7536A>T (p.Thr2512=) | |
X | g.154349381T>C | CA519276283 | FLNA | c.7713A>G (p.Thr2571=) c.7737A>G (p.Thr2579=) c.7656A>G (p.Thr2552=) c.4518A>G (p.Thr1506=) c.7794A>G (n.7794A>G) c.280-691A>G c.8016A>G (n.8016A>G) n.3455A>G c.7617A>G (p.Thr2539=) c.7693A>G (n.7693A>G) n.892A>G n.4966A>G n.68-551A>G n.778A>G c.6741A>G (p.Thr2247=) c.7641A>G (p.Thr2547=) c.7563A>G (p.Thr2521=) c.7539A>G (p.Thr2513=) c.7536A>G (p.Thr2512=) | |
X | g.154349381T>G | CA519276284 | FLNA | c.7713A>C (p.Thr2571=) c.7737A>C (p.Thr2579=) c.7656A>C (p.Thr2552=) c.4518A>C (p.Thr1506=) c.7794A>C (n.7794A>C) c.280-691A>C c.8016A>C (n.8016A>C) n.3455A>C c.7617A>C (p.Thr2539=) c.7693A>C (n.7693A>C) n.892A>C n.4966A>C n.68-551A>C n.778A>C c.6741A>C (p.Thr2247=) c.7641A>C (p.Thr2547=) c.7563A>C (p.Thr2521=) c.7539A>C (p.Thr2513=) c.7536A>C (p.Thr2512=) | |
X | g.154349382G>A | CA415179383 | FLNA | c.7712C>T (p.Thr2571Ile) c.7736C>T (p.Thr2579Ile) c.7655C>T (p.Thr2552Ile) c.4517C>T (p.Thr1506Ile) c.7793C>T (n.7793C>T) c.280-692C>T c.8015C>T (n.8015C>T) n.3454C>T c.7616C>T (p.Thr2539Ile) c.7692C>T (n.7692C>T) n.891C>T n.4965C>T n.68-552C>T n.777C>T c.6740C>T (p.Thr2247Ile) c.7640C>T (p.Thr2547Ile) c.7562C>T (p.Thr2521Ile) c.7538C>T (p.Thr2513Ile) c.7535C>T (p.Thr2512Ile) | |
X | g.154349382G>C | CA415179391 | FLNA | c.7712C>G (p.Thr2571Arg) c.7736C>G (p.Thr2579Arg) c.7655C>G (p.Thr2552Arg) c.4517C>G (p.Thr1506Arg) c.7793C>G (n.7793C>G) c.280-692C>G c.8015C>G (n.8015C>G) n.3454C>G c.7616C>G (p.Thr2539Arg) c.7692C>G (n.7692C>G) n.891C>G n.4965C>G n.68-552C>G n.777C>G c.6740C>G (p.Thr2247Arg) c.7640C>G (p.Thr2547Arg) c.7562C>G (p.Thr2521Arg) c.7538C>G (p.Thr2513Arg) c.7535C>G (p.Thr2512Arg) | |
X | g.154349382G>T | CA415179386 | FLNA | c.7712C>A (p.Thr2571Lys) c.7736C>A (p.Thr2579Lys) c.7655C>A (p.Thr2552Lys) c.4517C>A (p.Thr1506Lys) c.7793C>A (n.7793C>A) c.280-692C>A c.8015C>A (n.8015C>A) n.3454C>A c.7616C>A (p.Thr2539Lys) c.7692C>A (n.7692C>A) n.891C>A n.4965C>A n.68-552C>A n.777C>A c.6740C>A (p.Thr2247Lys) c.7640C>A (p.Thr2547Lys) c.7562C>A (p.Thr2521Lys) c.7538C>A (p.Thr2513Lys) c.7535C>A (p.Thr2512Lys) | |
X | g.154349383T>A | CA415179398 | FLNA | c.7711A>T (p.Thr2571Ser) c.7735A>T (p.Thr2579Ser) c.7654A>T (p.Thr2552Ser) c.4516A>T (p.Thr1506Ser) c.7792A>T (n.7792A>T) c.280-693A>T c.8014A>T (n.8014A>T) n.3453A>T c.7615A>T (p.Thr2539Ser) c.7691A>T (n.7691A>T) n.890A>T n.4964A>T n.68-553A>T n.776A>T c.6739A>T (p.Thr2247Ser) c.7639A>T (p.Thr2547Ser) c.7561A>T (p.Thr2521Ser) c.7537A>T (p.Thr2513Ser) c.7534A>T (p.Thr2512Ser) | |
X | g.154349383T>C | CA415179401 | FLNA | c.7711A>G (p.Thr2571Ala) c.7735A>G (p.Thr2579Ala) c.7654A>G (p.Thr2552Ala) c.4516A>G (p.Thr1506Ala) c.7792A>G (n.7792A>G) c.280-693A>G c.8014A>G (n.8014A>G) n.3453A>G c.7615A>G (p.Thr2539Ala) c.7691A>G (n.7691A>G) n.890A>G n.4964A>G n.68-553A>G n.776A>G c.6739A>G (p.Thr2247Ala) c.7639A>G (p.Thr2547Ala) c.7561A>G (p.Thr2521Ala) c.7537A>G (p.Thr2513Ala) c.7534A>G (p.Thr2512Ala) | |
X | g.154349383T>G | CA415179403 | FLNA | c.7711A>C (p.Thr2571Pro) c.7735A>C (p.Thr2579Pro) c.7654A>C (p.Thr2552Pro) c.4516A>C (p.Thr1506Pro) c.7792A>C (n.7792A>C) c.280-693A>C c.8014A>C (n.8014A>C) n.3453A>C c.7615A>C (p.Thr2539Pro) c.7691A>C (n.7691A>C) n.890A>C n.4964A>C n.68-553A>C n.776A>C c.6739A>C (p.Thr2247Pro) c.7639A>C (p.Thr2547Pro) c.7561A>C (p.Thr2521Pro) c.7537A>C (p.Thr2513Pro) c.7534A>C (p.Thr2512Pro) | |
X | g.154349384G>A | CA519276285 | FLNA | c.7710C>T (p.Phe2570=) c.7734C>T (p.Phe2578=) c.7653C>T (p.Phe2551=) c.4515C>T (p.Phe1505=) c.7791C>T (n.7791C>T) c.280-694C>T c.8013C>T (n.8013C>T) n.3452C>T c.7614C>T (p.Phe2538=) c.7690C>T (n.7690C>T) n.889C>T n.4963C>T n.68-554C>T n.775C>T c.6738C>T (p.Phe2246=) c.7638C>T (p.Phe2546=) c.7560C>T (p.Phe2520=) c.7536C>T (p.Phe2512=) c.7533C>T (p.Phe2511=) | gnomAD v4 |
X | g.154349384G>C | CA415179405 | FLNA | c.7710C>G (p.Phe2570Leu) c.7734C>G (p.Phe2578Leu) c.7653C>G (p.Phe2551Leu) c.4515C>G (p.Phe1505Leu) c.7791C>G (n.7791C>G) c.280-694C>G c.8013C>G (n.8013C>G) n.3452C>G c.7614C>G (p.Phe2538Leu) c.7690C>G (n.7690C>G) n.889C>G n.4963C>G n.68-554C>G n.775C>G c.6738C>G (p.Phe2246Leu) c.7638C>G (p.Phe2546Leu) c.7560C>G (p.Phe2520Leu) c.7536C>G (p.Phe2512Leu) c.7533C>G (p.Phe2511Leu) | |
X | g.154349384G>T | CA415179406 | FLNA | c.7710C>A (p.Phe2570Leu) c.7734C>A (p.Phe2578Leu) c.7653C>A (p.Phe2551Leu) c.4515C>A (p.Phe1505Leu) c.7791C>A (n.7791C>A) c.280-694C>A c.8013C>A (n.8013C>A) n.3452C>A c.7614C>A (p.Phe2538Leu) c.7690C>A (n.7690C>A) n.889C>A n.4963C>A n.68-554C>A n.775C>A c.6738C>A (p.Phe2246Leu) c.7638C>A (p.Phe2546Leu) c.7560C>A (p.Phe2520Leu) c.7536C>A (p.Phe2512Leu) c.7533C>A (p.Phe2511Leu) | |
X | g.154349385A>C | CA415179409 | FLNA | c.7709T>G (p.Phe2570Cys) c.7733T>G (p.Phe2578Cys) c.7652T>G (p.Phe2551Cys) c.4514T>G (p.Phe1505Cys) c.7790T>G (n.7790T>G) c.280-695T>G c.8012T>G (n.8012T>G) n.3451T>G c.7613T>G (p.Phe2538Cys) c.7689T>G (n.7689T>G) n.888T>G n.4962T>G n.68-555T>G n.774T>G c.6737T>G (p.Phe2246Cys) c.7637T>G (p.Phe2546Cys) c.7559T>G (p.Phe2520Cys) c.7535T>G (p.Phe2512Cys) c.7532T>G (p.Phe2511Cys) | |
X | g.154349385A>G | CA415179410 | FLNA | c.7709T>C (p.Phe2570Ser) c.7733T>C (p.Phe2578Ser) c.7652T>C (p.Phe2551Ser) c.4514T>C (p.Phe1505Ser) c.7790T>C (n.7790T>C) c.280-695T>C c.8012T>C (n.8012T>C) n.3451T>C c.7613T>C (p.Phe2538Ser) c.7689T>C (n.7689T>C) n.888T>C n.4962T>C n.68-555T>C n.774T>C c.6737T>C (p.Phe2246Ser) c.7637T>C (p.Phe2546Ser) c.7559T>C (p.Phe2520Ser) c.7535T>C (p.Phe2512Ser) c.7532T>C (p.Phe2511Ser) | |
X | g.154349385A>T | CA415179412 | FLNA | c.7709T>A (p.Phe2570Tyr) c.7733T>A (p.Phe2578Tyr) c.7652T>A (p.Phe2551Tyr) c.4514T>A (p.Phe1505Tyr) c.7790T>A (n.7790T>A) c.280-695T>A c.8012T>A (n.8012T>A) n.3451T>A c.7613T>A (p.Phe2538Tyr) c.7689T>A (n.7689T>A) n.888T>A n.4962T>A n.68-555T>A n.774T>A c.6737T>A (p.Phe2246Tyr) c.7637T>A (p.Phe2546Tyr) c.7559T>A (p.Phe2520Tyr) c.7535T>A (p.Phe2512Tyr) c.7532T>A (p.Phe2511Tyr) | |
X | g.154349386A>C | CA415179414 | FLNA | c.7708T>G (p.Phe2570Val) c.7732T>G (p.Phe2578Val) c.7651T>G (p.Phe2551Val) c.4513T>G (p.Phe1505Val) c.7789T>G (n.7789T>G) c.280-696T>G c.8011T>G (n.8011T>G) n.3450T>G c.7612T>G (p.Phe2538Val) c.7688T>G (n.7688T>G) n.887T>G n.4961T>G n.68-556T>G n.773T>G c.6736T>G (p.Phe2246Val) c.7636T>G (p.Phe2546Val) c.7558T>G (p.Phe2520Val) c.7534T>G (p.Phe2512Val) c.7531T>G (p.Phe2511Val) | |
X | g.154349386A>G | CA415179415 | FLNA | c.7708T>C (p.Phe2570Leu) c.7732T>C (p.Phe2578Leu) c.7651T>C (p.Phe2551Leu) c.4513T>C (p.Phe1505Leu) c.7789T>C (n.7789T>C) c.280-696T>C c.8011T>C (n.8011T>C) n.3450T>C c.7612T>C (p.Phe2538Leu) c.7688T>C (n.7688T>C) n.887T>C n.4961T>C n.68-556T>C n.773T>C c.6736T>C (p.Phe2246Leu) c.7636T>C (p.Phe2546Leu) c.7558T>C (p.Phe2520Leu) c.7534T>C (p.Phe2512Leu) c.7531T>C (p.Phe2511Leu) | ClinVar |
X | g.154349386A>T | CA415179416 | FLNA | c.7708T>A (p.Phe2570Ile) c.7732T>A (p.Phe2578Ile) c.7651T>A (p.Phe2551Ile) c.4513T>A (p.Phe1505Ile) c.7789T>A (n.7789T>A) c.280-696T>A c.8011T>A (n.8011T>A) n.3450T>A c.7612T>A (p.Phe2538Ile) c.7688T>A (n.7688T>A) n.887T>A n.4961T>A n.68-556T>A n.773T>A c.6736T>A (p.Phe2246Ile) c.7636T>A (p.Phe2546Ile) c.7558T>A (p.Phe2520Ile) c.7534T>A (p.Phe2512Ile) c.7531T>A (p.Phe2511Ile) | |
X | g.154349387G>A | CA519276286 | FLNA | c.7707C>T (p.Ser2569=) c.7731C>T (p.Ser2577=) c.7650C>T (p.Ser2550=) c.4512C>T (p.Ser1504=) c.7788C>T (n.7788C>T) c.280-697C>T c.8010C>T (n.8010C>T) n.3449C>T c.7611C>T (p.Ser2537=) c.7687C>T (n.7687C>T) n.886C>T n.4960C>T n.68-557C>T n.772C>T c.6735C>T (p.Ser2245=) c.7635C>T (p.Ser2545=) c.7557C>T (p.Ser2519=) c.7533C>T (p.Ser2511=) c.7530C>T (p.Ser2510=) | |
X | g.154349387G>C | CA415179426 | FLNA | c.7707C>G (p.Ser2569Arg) c.7731C>G (p.Ser2577Arg) c.7650C>G (p.Ser2550Arg) c.4512C>G (p.Ser1504Arg) c.7788C>G (n.7788C>G) c.280-697C>G c.8010C>G (n.8010C>G) n.3449C>G c.7611C>G (p.Ser2537Arg) c.7687C>G (n.7687C>G) n.886C>G n.4960C>G n.68-557C>G n.772C>G c.6735C>G (p.Ser2245Arg) c.7635C>G (p.Ser2545Arg) c.7557C>G (p.Ser2519Arg) c.7533C>G (p.Ser2511Arg) c.7530C>G (p.Ser2510Arg) | |
X | g.154349387G>T | CA415179418 | FLNA | c.7707C>A (p.Ser2569Arg) c.7731C>A (p.Ser2577Arg) c.7650C>A (p.Ser2550Arg) c.4512C>A (p.Ser1504Arg) c.7788C>A (n.7788C>A) c.280-697C>A c.8010C>A (n.8010C>A) n.3449C>A c.7611C>A (p.Ser2537Arg) c.7687C>A (n.7687C>A) n.886C>A n.4960C>A n.68-557C>A n.772C>A c.6735C>A (p.Ser2245Arg) c.7635C>A (p.Ser2545Arg) c.7557C>A (p.Ser2519Arg) c.7533C>A (p.Ser2511Arg) c.7530C>A (p.Ser2510Arg) | |
X | g.154349388C>A | CA415179431 | FLNA | c.7706G>T (p.Ser2569Ile) c.7730G>T (p.Ser2577Ile) c.7649G>T (p.Ser2550Ile) c.4511G>T (p.Ser1504Ile) c.7787G>T (n.7787G>T) c.280-698G>T c.8009G>T (n.8009G>T) n.3448G>T c.7610G>T (p.Ser2537Ile) c.7686G>T (n.7686G>T) n.885G>T n.4959G>T n.68-558G>T n.771G>T c.6734G>T (p.Ser2245Ile) c.7634G>T (p.Ser2545Ile) c.7556G>T (p.Ser2519Ile) c.7532G>T (p.Ser2511Ile) c.7529G>T (p.Ser2510Ile) | |
X | g.154349388C>G | CA415179434 | FLNA | c.7706G>C (p.Ser2569Thr) c.7730G>C (p.Ser2577Thr) c.7649G>C (p.Ser2550Thr) c.4511G>C (p.Ser1504Thr) c.7787G>C (n.7787G>C) c.280-698G>C c.8009G>C (n.8009G>C) n.3448G>C c.7610G>C (p.Ser2537Thr) c.7686G>C (n.7686G>C) n.885G>C n.4959G>C n.68-558G>C n.771G>C c.6734G>C (p.Ser2245Thr) c.7634G>C (p.Ser2545Thr) c.7556G>C (p.Ser2519Thr) c.7532G>C (p.Ser2511Thr) c.7529G>C (p.Ser2510Thr) | |
X | g.154349388C>T | CA415179438 | FLNA | c.7706G>A (p.Ser2569Asn) c.7730G>A (p.Ser2577Asn) c.7649G>A (p.Ser2550Asn) c.4511G>A (p.Ser1504Asn) c.7787G>A (n.7787G>A) c.280-698G>A c.8009G>A (n.8009G>A) n.3448G>A c.7610G>A (p.Ser2537Asn) c.7686G>A (n.7686G>A) n.885G>A n.4959G>A n.68-558G>A n.771G>A c.6734G>A (p.Ser2245Asn) c.7634G>A (p.Ser2545Asn) c.7556G>A (p.Ser2519Asn) c.7532G>A (p.Ser2511Asn) c.7529G>A (p.Ser2510Asn) | |
X | g.154349389T>A | CA415179444 | FLNA | c.7705A>T (p.Ser2569Cys) c.7729A>T (p.Ser2577Cys) c.7648A>T (p.Ser2550Cys) c.4510A>T (p.Ser1504Cys) c.7786A>T (n.7786A>T) c.280-699A>T c.8008A>T (n.8008A>T) n.3447A>T c.7609A>T (p.Ser2537Cys) c.7685A>T (n.7685A>T) n.884A>T n.4958A>T n.68-559A>T n.770A>T c.6733A>T (p.Ser2245Cys) c.7633A>T (p.Ser2545Cys) c.7555A>T (p.Ser2519Cys) c.7531A>T (p.Ser2511Cys) c.7528A>T (p.Ser2510Cys) | |
X | g.154349389T>C | CA415179449 | FLNA | c.7705A>G (p.Ser2569Gly) c.7729A>G (p.Ser2577Gly) c.7648A>G (p.Ser2550Gly) c.4510A>G (p.Ser1504Gly) c.7786A>G (n.7786A>G) c.280-699A>G c.8008A>G (n.8008A>G) n.3447A>G c.7609A>G (p.Ser2537Gly) c.7685A>G (n.7685A>G) n.884A>G n.4958A>G n.68-559A>G n.770A>G c.6733A>G (p.Ser2245Gly) c.7633A>G (p.Ser2545Gly) c.7555A>G (p.Ser2519Gly) c.7531A>G (p.Ser2511Gly) c.7528A>G (p.Ser2510Gly) | |
X | g.154349389T>G | CA415179459 | FLNA | c.7705A>C (p.Ser2569Arg) c.7729A>C (p.Ser2577Arg) c.7648A>C (p.Ser2550Arg) c.4510A>C (p.Ser1504Arg) c.7786A>C (n.7786A>C) c.280-699A>C c.8008A>C (n.8008A>C) n.3447A>C c.7609A>C (p.Ser2537Arg) c.7685A>C (n.7685A>C) n.884A>C n.4958A>C n.68-559A>C n.770A>C c.6733A>C (p.Ser2245Arg) c.7633A>C (p.Ser2545Arg) c.7555A>C (p.Ser2519Arg) c.7531A>C (p.Ser2511Arg) c.7528A>C (p.Ser2510Arg) | |
X | g.154349390G>A | CA519276287 | FLNA | c.7704C>T (p.Ser2568=) c.7728C>T (p.Ser2576=) c.7647C>T (p.Ser2549=) c.4509C>T (p.Ser1503=) c.7785C>T (n.7785C>T) c.280-700C>T c.8007C>T (n.8007C>T) n.3446C>T c.7608C>T (p.Ser2536=) c.7684C>T (n.7684C>T) n.883C>T n.4957C>T n.68-560C>T n.769C>T c.6732C>T (p.Ser2244=) c.7632C>T (p.Ser2544=) c.7554C>T (p.Ser2518=) c.7530C>T (p.Ser2510=) c.7527C>T (p.Ser2509=) | gnomAD v4 |
X | g.154349390G>C | CA415179464 | FLNA | c.7704C>G (p.Ser2568Arg) c.7728C>G (p.Ser2576Arg) c.7647C>G (p.Ser2549Arg) c.4509C>G (p.Ser1503Arg) c.7785C>G (n.7785C>G) c.280-700C>G c.8007C>G (n.8007C>G) n.3446C>G c.7608C>G (p.Ser2536Arg) c.7684C>G (n.7684C>G) n.883C>G n.4957C>G n.68-560C>G n.769C>G c.6732C>G (p.Ser2244Arg) c.7632C>G (p.Ser2544Arg) c.7554C>G (p.Ser2518Arg) c.7530C>G (p.Ser2510Arg) c.7527C>G (p.Ser2509Arg) | |
X | g.154349390G>T | CA415179468 | FLNA | c.7704C>A (p.Ser2568Arg) c.7728C>A (p.Ser2576Arg) c.7647C>A (p.Ser2549Arg) c.4509C>A (p.Ser1503Arg) c.7785C>A (n.7785C>A) c.280-700C>A c.8007C>A (n.8007C>A) n.3446C>A c.7608C>A (p.Ser2536Arg) c.7684C>A (n.7684C>A) n.883C>A n.4957C>A n.68-560C>A n.769C>A c.6732C>A (p.Ser2244Arg) c.7632C>A (p.Ser2544Arg) c.7554C>A (p.Ser2518Arg) c.7530C>A (p.Ser2510Arg) c.7527C>A (p.Ser2509Arg) | gnomAD v4 |
X | g.154349391C>A | CA415179471 | FLNA | c.7703G>T (p.Ser2568Ile) c.7727G>T (p.Ser2576Ile) c.7646G>T (p.Ser2549Ile) c.4508G>T (p.Ser1503Ile) c.7784G>T (n.7784G>T) c.280-701G>T c.8006G>T (n.8006G>T) n.3445G>T c.7607G>T (p.Ser2536Ile) c.7683G>T (n.7683G>T) n.882G>T n.4956G>T n.68-561G>T n.768G>T c.6731G>T (p.Ser2244Ile) c.7631G>T (p.Ser2544Ile) c.7553G>T (p.Ser2518Ile) c.7529G>T (p.Ser2510Ile) c.7526G>T (p.Ser2509Ile) | |
X | g.154349391C>G | CA415179478 | FLNA | c.7703G>C (p.Ser2568Thr) c.7727G>C (p.Ser2576Thr) c.7646G>C (p.Ser2549Thr) c.4508G>C (p.Ser1503Thr) c.7784G>C (n.7784G>C) c.280-701G>C c.8006G>C (n.8006G>C) n.3445G>C c.7607G>C (p.Ser2536Thr) c.7683G>C (n.7683G>C) n.882G>C n.4956G>C n.68-561G>C n.768G>C c.6731G>C (p.Ser2244Thr) c.7631G>C (p.Ser2544Thr) c.7553G>C (p.Ser2518Thr) c.7529G>C (p.Ser2510Thr) c.7526G>C (p.Ser2509Thr) | |
X | g.154349391C>T | CA415179483 | FLNA | c.7703G>A (p.Ser2568Asn) c.7727G>A (p.Ser2576Asn) c.7646G>A (p.Ser2549Asn) c.4508G>A (p.Ser1503Asn) c.7784G>A (n.7784G>A) c.280-701G>A c.8006G>A (n.8006G>A) n.3445G>A c.7607G>A (p.Ser2536Asn) c.7683G>A (n.7683G>A) n.882G>A n.4956G>A n.68-561G>A n.768G>A c.6731G>A (p.Ser2244Asn) c.7631G>A (p.Ser2544Asn) c.7553G>A (p.Ser2518Asn) c.7529G>A (p.Ser2510Asn) c.7526G>A (p.Ser2509Asn) | gnomAD v4 |
X | g.154349392T>A | CA415179493 | FLNA | c.7702A>T (p.Ser2568Cys) c.7726A>T (p.Ser2576Cys) c.7645A>T (p.Ser2549Cys) c.4507A>T (p.Ser1503Cys) c.7783A>T (n.7783A>T) c.280-702A>T c.8005A>T (n.8005A>T) n.3444A>T c.7606A>T (p.Ser2536Cys) c.7682A>T (n.7682A>T) n.881A>T n.4955A>T n.68-562A>T n.767A>T c.6730A>T (p.Ser2244Cys) c.7630A>T (p.Ser2544Cys) c.7552A>T (p.Ser2518Cys) c.7528A>T (p.Ser2510Cys) c.7525A>T (p.Ser2509Cys) | gnomAD v4 |
X | g.154349392T>C | CA415179501 | FLNA | c.7702A>G (p.Ser2568Gly) c.7726A>G (p.Ser2576Gly) c.7645A>G (p.Ser2549Gly) c.4507A>G (p.Ser1503Gly) c.7783A>G (n.7783A>G) c.280-702A>G c.8005A>G (n.8005A>G) n.3444A>G c.7606A>G (p.Ser2536Gly) c.7682A>G (n.7682A>G) n.881A>G n.4955A>G n.68-562A>G n.767A>G c.6730A>G (p.Ser2244Gly) c.7630A>G (p.Ser2544Gly) c.7552A>G (p.Ser2518Gly) c.7528A>G (p.Ser2510Gly) c.7525A>G (p.Ser2509Gly) | gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.154349392T>G | CA415179496 | FLNA | c.7702A>C (p.Ser2568Arg) c.7726A>C (p.Ser2576Arg) c.7645A>C (p.Ser2549Arg) c.4507A>C (p.Ser1503Arg) c.7783A>C (n.7783A>C) c.280-702A>C c.8005A>C (n.8005A>C) n.3444A>C c.7606A>C (p.Ser2536Arg) c.7682A>C (n.7682A>C) n.881A>C n.4955A>C n.68-562A>C n.767A>C c.6730A>C (p.Ser2244Arg) c.7630A>C (p.Ser2544Arg) c.7552A>C (p.Ser2518Arg) c.7528A>C (p.Ser2510Arg) c.7525A>C (p.Ser2509Arg) | |
X | g.154349393C>A | CA415179508 | FLNA | c.7701G>T (p.Lys2567Asn) c.7725G>T (p.Lys2575Asn) c.7644G>T (p.Lys2548Asn) c.4506G>T (p.Lys1502Asn) c.7782G>T (n.7782G>T) c.280-703G>T c.8004G>T (n.8004G>T) n.3443G>T c.7605G>T (p.Lys2535Asn) c.7681G>T (n.7681G>T) n.880G>T n.4954G>T n.68-563G>T n.766G>T c.6729G>T (p.Lys2243Asn) c.7629G>T (p.Lys2543Asn) c.7551G>T (p.Lys2517Asn) c.7527G>T (p.Lys2509Asn) c.7524G>T (p.Lys2508Asn) | |
X | g.154349393C= | CA2466652030 | FLNA | c.7701G= (p.Lys2567=) c.7725G= (p.Lys2575=) c.7644G= (p.Lys2548=) c.4506G= (p.Lys1502=) c.7782G= (n.7782G=) c.280-703G= c.8004G= (n.8004G=) n.3443G= c.7605G= (p.Lys2535=) c.7681G= (n.7681G=) n.880G= n.4954G= n.68-563G= n.766G= c.6729G= (p.Lys2243=) c.7629G= (p.Lys2543=) c.7551G= (p.Lys2517=) c.7527G= (p.Lys2509=) c.7524G= (p.Lys2508=) | |
X | g.154349393C>G | CA415179513 | FLNA | c.7701G>C (p.Lys2567Asn) c.7725G>C (p.Lys2575Asn) c.7644G>C (p.Lys2548Asn) c.4506G>C (p.Lys1502Asn) c.7782G>C (n.7782G>C) c.280-703G>C c.8004G>C (n.8004G>C) n.3443G>C c.7605G>C (p.Lys2535Asn) c.7681G>C (n.7681G>C) n.880G>C n.4954G>C n.68-563G>C n.766G>C c.6729G>C (p.Lys2243Asn) c.7629G>C (p.Lys2543Asn) c.7551G>C (p.Lys2517Asn) c.7527G>C (p.Lys2509Asn) c.7524G>C (p.Lys2508Asn) | |
X | g.154349393C>T | CA10559849 | FLNA | c.7701G>A (p.Lys2567=) c.7725G>A (p.Lys2575=) c.7644G>A (p.Lys2548=) c.4506G>A (p.Lys1502=) c.7782G>A (n.7782G>A) c.280-703G>A c.8004G>A (n.8004G>A) n.3443G>A c.7605G>A (p.Lys2535=) c.7681G>A (n.7681G>A) n.880G>A n.4954G>A n.68-563G>A n.766G>A c.6729G>A (p.Lys2243=) c.7629G>A (p.Lys2543=) c.7551G>A (p.Lys2517=) c.7527G>A (p.Lys2509=) c.7524G>A (p.Lys2508=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.154349394T>A | CA415179514 | FLNA | c.7700A>T (p.Lys2567Met) c.7724A>T (p.Lys2575Met) c.7643A>T (p.Lys2548Met) c.4505A>T (p.Lys1502Met) c.7781A>T (n.7781A>T) c.280-704A>T c.8003A>T (n.8003A>T) n.3442A>T c.7604A>T (p.Lys2535Met) c.7680A>T (n.7680A>T) n.879A>T n.4953A>T n.68-564A>T n.765A>T c.6728A>T (p.Lys2243Met) c.7628A>T (p.Lys2543Met) c.7550A>T (p.Lys2517Met) c.7526A>T (p.Lys2509Met) c.7523A>T (p.Lys2508Met) | |
X | g.154349394T>C | CA415179517 | FLNA | c.7700A>G (p.Lys2567Arg) c.7724A>G (p.Lys2575Arg) c.7643A>G (p.Lys2548Arg) c.4505A>G (p.Lys1502Arg) c.7781A>G (n.7781A>G) c.280-704A>G c.8003A>G (n.8003A>G) n.3442A>G c.7604A>G (p.Lys2535Arg) c.7680A>G (n.7680A>G) n.879A>G n.4953A>G n.68-564A>G n.765A>G c.6728A>G (p.Lys2243Arg) c.7628A>G (p.Lys2543Arg) c.7550A>G (p.Lys2517Arg) c.7526A>G (p.Lys2509Arg) c.7523A>G (p.Lys2508Arg) | |
X | g.154349394T>G | CA415179531 | FLNA | c.7700A>C (p.Lys2567Thr) c.7724A>C (p.Lys2575Thr) c.7643A>C (p.Lys2548Thr) c.4505A>C (p.Lys1502Thr) c.7781A>C (n.7781A>C) c.280-704A>C c.8003A>C (n.8003A>C) n.3442A>C c.7604A>C (p.Lys2535Thr) c.7680A>C (n.7680A>C) n.879A>C n.4953A>C n.68-564A>C n.765A>C c.6728A>C (p.Lys2243Thr) c.7628A>C (p.Lys2543Thr) c.7550A>C (p.Lys2517Thr) c.7526A>C (p.Lys2509Thr) c.7523A>C (p.Lys2508Thr) | |
X | g.154349395T>A | CA415179537 | FLNA | c.7699A>T (p.Lys2567Ter) c.7723A>T (p.Lys2575Ter) c.7642A>T (p.Lys2548Ter) c.4504A>T (p.Lys1502Ter) c.7780A>T (n.7780A>T) c.280-705A>T c.8002A>T (n.8002A>T) n.3441A>T c.7603A>T (p.Lys2535Ter) c.7679A>T (n.7679A>T) n.878A>T n.4952A>T n.68-565A>T n.764A>T c.6727A>T (p.Lys2243Ter) c.7627A>T (p.Lys2543Ter) c.7549A>T (p.Lys2517Ter) c.7525A>T (p.Lys2509Ter) c.7522A>T (p.Lys2508Ter) | |
X | g.154349395T>C | CA415179538 | FLNA | c.7699A>G (p.Lys2567Glu) c.7723A>G (p.Lys2575Glu) c.7642A>G (p.Lys2548Glu) c.4504A>G (p.Lys1502Glu) c.7780A>G (n.7780A>G) c.280-705A>G c.8002A>G (n.8002A>G) n.3441A>G c.7603A>G (p.Lys2535Glu) c.7679A>G (n.7679A>G) n.878A>G n.4952A>G n.68-565A>G n.764A>G c.6727A>G (p.Lys2243Glu) c.7627A>G (p.Lys2543Glu) c.7549A>G (p.Lys2517Glu) c.7525A>G (p.Lys2509Glu) c.7522A>G (p.Lys2508Glu) | |
X | g.154349395T>G | CA415179543 | FLNA | c.7699A>C (p.Lys2567Gln) c.7723A>C (p.Lys2575Gln) c.7642A>C (p.Lys2548Gln) c.4504A>C (p.Lys1502Gln) c.7780A>C (n.7780A>C) c.280-705A>C c.8002A>C (n.8002A>C) n.3441A>C c.7603A>C (p.Lys2535Gln) c.7679A>C (n.7679A>C) n.878A>C n.4952A>C n.68-565A>C n.764A>C c.6727A>C (p.Lys2243Gln) c.7627A>C (p.Lys2543Gln) c.7549A>C (p.Lys2517Gln) c.7525A>C (p.Lys2509Gln) c.7522A>C (p.Lys2508Gln) | |
X | g.154349396C>A | CA415179553 | FLNA | c.7698G>T (p.Gln2566His) c.7722G>T (p.Gln2574His) c.7641G>T (p.Gln2547His) c.4503G>T (p.Gln1501His) c.7779G>T (n.7779G>T) c.280-706G>T c.8001G>T (n.8001G>T) n.3440G>T c.7602G>T (p.Gln2534His) c.7678G>T (n.7678G>T) n.877G>T n.4951G>T n.68-566G>T n.763G>T c.6726G>T (p.Gln2242His) c.7626G>T (p.Gln2542His) c.7548G>T (p.Gln2516His) c.7524G>T (p.Gln2508His) c.7521G>T (p.Gln2507His) | |
X | g.154349396C>G | CA415179556 | FLNA | c.7698G>C (p.Gln2566His) c.7722G>C (p.Gln2574His) c.7641G>C (p.Gln2547His) c.4503G>C (p.Gln1501His) c.7779G>C (n.7779G>C) c.280-706G>C c.8001G>C (n.8001G>C) n.3440G>C c.7602G>C (p.Gln2534His) c.7678G>C (n.7678G>C) n.877G>C n.4951G>C n.68-566G>C n.763G>C c.6726G>C (p.Gln2242His) c.7626G>C (p.Gln2542His) c.7548G>C (p.Gln2516His) c.7524G>C (p.Gln2508His) c.7521G>C (p.Gln2507His) | |
X | g.154349396C>T | CA519276288 | FLNA | c.7698G>A (p.Gln2566=) c.7722G>A (p.Gln2574=) c.7641G>A (p.Gln2547=) c.4503G>A (p.Gln1501=) c.7779G>A (n.7779G>A) c.280-706G>A c.8001G>A (n.8001G>A) n.3440G>A c.7602G>A (p.Gln2534=) c.7678G>A (n.7678G>A) n.877G>A n.4951G>A n.68-566G>A n.763G>A c.6726G>A (p.Gln2242=) c.7626G>A (p.Gln2542=) c.7548G>A (p.Gln2516=) c.7524G>A (p.Gln2508=) c.7521G>A (p.Gln2507=) | |
X | g.154349397T>A | CA415179562 | FLNA | c.7697A>T (p.Gln2566Leu) c.7721A>T (p.Gln2574Leu) c.7640A>T (p.Gln2547Leu) c.4502A>T (p.Gln1501Leu) c.7778A>T (n.7778A>T) c.280-707A>T c.8000A>T (n.8000A>T) n.3439A>T c.7601A>T (p.Gln2534Leu) c.7677A>T (n.7677A>T) n.876A>T n.4950A>T n.68-567A>T n.762A>T c.6725A>T (p.Gln2242Leu) c.7625A>T (p.Gln2542Leu) c.7547A>T (p.Gln2516Leu) c.7523A>T (p.Gln2508Leu) c.7520A>T (p.Gln2507Leu) | |
X | g.154349397T>C | CA415179578 | FLNA | c.7697A>G (p.Gln2566Arg) c.7721A>G (p.Gln2574Arg) c.7640A>G (p.Gln2547Arg) c.4502A>G (p.Gln1501Arg) c.7778A>G (n.7778A>G) c.280-707A>G c.8000A>G (n.8000A>G) n.3439A>G c.7601A>G (p.Gln2534Arg) c.7677A>G (n.7677A>G) n.876A>G n.4950A>G n.68-567A>G n.762A>G c.6725A>G (p.Gln2242Arg) c.7625A>G (p.Gln2542Arg) c.7547A>G (p.Gln2516Arg) c.7523A>G (p.Gln2508Arg) c.7520A>G (p.Gln2507Arg) | |
X | g.154349397T>G | CA415179579 | FLNA | c.7697A>C (p.Gln2566Pro) c.7721A>C (p.Gln2574Pro) c.7640A>C (p.Gln2547Pro) c.4502A>C (p.Gln1501Pro) c.7778A>C (n.7778A>C) c.280-707A>C c.8000A>C (n.8000A>C) n.3439A>C c.7601A>C (p.Gln2534Pro) c.7677A>C (n.7677A>C) n.876A>C n.4950A>C n.68-567A>C n.762A>C c.6725A>C (p.Gln2242Pro) c.7625A>C (p.Gln2542Pro) c.7547A>C (p.Gln2516Pro) c.7523A>C (p.Gln2508Pro) c.7520A>C (p.Gln2507Pro) | |
X | g.154349398G>A | CA415179582 | FLNA | c.7696C>T (p.Gln2566Ter) c.7720C>T (p.Gln2574Ter) c.7639C>T (p.Gln2547Ter) c.4501C>T (p.Gln1501Ter) c.7777C>T (n.7777C>T) c.280-708C>T c.7999C>T (n.7999C>T) n.3438C>T c.7600C>T (p.Gln2534Ter) c.7676C>T (n.7676C>T) n.875C>T n.4949C>T n.68-568C>T n.761C>T c.6724C>T (p.Gln2242Ter) c.7624C>T (p.Gln2542Ter) c.7546C>T (p.Gln2516Ter) c.7522C>T (p.Gln2508Ter) c.7519C>T (p.Gln2507Ter) | |
X | g.154349398G>C | CA415179581 | FLNA | c.7696C>G (p.Gln2566Glu) c.7720C>G (p.Gln2574Glu) c.7639C>G (p.Gln2547Glu) c.4501C>G (p.Gln1501Glu) c.7777C>G (n.7777C>G) c.280-708C>G c.7999C>G (n.7999C>G) n.3438C>G c.7600C>G (p.Gln2534Glu) c.7676C>G (n.7676C>G) n.875C>G n.4949C>G n.68-568C>G n.761C>G c.6724C>G (p.Gln2242Glu) c.7624C>G (p.Gln2542Glu) c.7546C>G (p.Gln2516Glu) c.7522C>G (p.Gln2508Glu) c.7519C>G (p.Gln2507Glu) | |
X | g.154349398G>T | CA415179580 | FLNA | c.7696C>A (p.Gln2566Lys) c.7720C>A (p.Gln2574Lys) c.7639C>A (p.Gln2547Lys) c.4501C>A (p.Gln1501Lys) c.7777C>A (n.7777C>A) c.280-708C>A c.7999C>A (n.7999C>A) n.3438C>A c.7600C>A (p.Gln2534Lys) c.7676C>A (n.7676C>A) n.875C>A n.4949C>A n.68-568C>A n.761C>A c.6724C>A (p.Gln2242Lys) c.7624C>A (p.Gln2542Lys) c.7546C>A (p.Gln2516Lys) c.7522C>A (p.Gln2508Lys) c.7519C>A (p.Gln2507Lys) | ClinVar gnomAD v4 |
X | g.154349399G>A | CA519276291 | FLNA | c.7695C>T (p.Gly2565=) c.7719C>T (p.Gly2573=) c.7638C>T (p.Gly2546=) c.4500C>T (p.Gly1500=) c.7776C>T (n.7776C>T) c.280-709C>T c.7998C>T (n.7998C>T) n.3437C>T c.7599C>T (p.Gly2533=) c.7675C>T (n.7675C>T) n.874C>T n.4948C>T n.68-569C>T n.760C>T c.6723C>T (p.Gly2241=) c.7623C>T (p.Gly2541=) c.7545C>T (p.Gly2515=) c.7521C>T (p.Gly2507=) c.7518C>T (p.Gly2506=) | gnomAD v4 |
X | g.154349399G>C | CA519276289 | FLNA | c.7695C>G (p.Gly2565=) c.7719C>G (p.Gly2573=) c.7638C>G (p.Gly2546=) c.4500C>G (p.Gly1500=) c.7776C>G (n.7776C>G) c.280-709C>G c.7998C>G (n.7998C>G) n.3437C>G c.7599C>G (p.Gly2533=) c.7675C>G (n.7675C>G) n.874C>G n.4948C>G n.68-569C>G n.760C>G c.6723C>G (p.Gly2241=) c.7623C>G (p.Gly2541=) c.7545C>G (p.Gly2515=) c.7521C>G (p.Gly2507=) c.7518C>G (p.Gly2506=) | |
X | g.154349399G>T | CA519276290 | FLNA | c.7695C>A (p.Gly2565=) c.7719C>A (p.Gly2573=) c.7638C>A (p.Gly2546=) c.4500C>A (p.Gly1500=) c.7776C>A (n.7776C>A) c.280-709C>A c.7998C>A (n.7998C>A) n.3437C>A c.7599C>A (p.Gly2533=) c.7675C>A (n.7675C>A) n.874C>A n.4948C>A n.68-569C>A n.760C>A c.6723C>A (p.Gly2241=) c.7623C>A (p.Gly2541=) c.7545C>A (p.Gly2515=) c.7521C>A (p.Gly2507=) c.7518C>A (p.Gly2506=) | |
X | g.154349400C>A | CA415179584 | FLNA | c.7694G>T (p.Gly2565Val) c.7718G>T (p.Gly2573Val) c.7637G>T (p.Gly2546Val) c.4499G>T (p.Gly1500Val) c.7775G>T (n.7775G>T) c.280-710G>T c.7997G>T (n.7997G>T) n.3436G>T c.7598G>T (p.Gly2533Val) c.7674G>T (n.7674G>T) n.873G>T n.4947G>T n.68-570G>T n.759G>T c.6722G>T (p.Gly2241Val) c.7622G>T (p.Gly2541Val) c.7544G>T (p.Gly2515Val) c.7520G>T (p.Gly2507Val) c.7517G>T (p.Gly2506Val) | |
X | g.154349400C>G | CA415179585 | FLNA | c.7694G>C (p.Gly2565Ala) c.7718G>C (p.Gly2573Ala) c.7637G>C (p.Gly2546Ala) c.4499G>C (p.Gly1500Ala) c.7775G>C (n.7775G>C) c.280-710G>C c.7997G>C (n.7997G>C) n.3436G>C c.7598G>C (p.Gly2533Ala) c.7674G>C (n.7674G>C) n.873G>C n.4947G>C n.68-570G>C n.759G>C c.6722G>C (p.Gly2241Ala) c.7622G>C (p.Gly2541Ala) c.7544G>C (p.Gly2515Ala) c.7520G>C (p.Gly2507Ala) c.7517G>C (p.Gly2506Ala) | |
X | g.154349400C>T | CA415179586 | FLNA | c.7694G>A (p.Gly2565Asp) c.7718G>A (p.Gly2573Asp) c.7637G>A (p.Gly2546Asp) c.4499G>A (p.Gly1500Asp) c.7775G>A (n.7775G>A) c.280-710G>A c.7997G>A (n.7997G>A) n.3436G>A c.7598G>A (p.Gly2533Asp) c.7674G>A (n.7674G>A) n.873G>A n.4947G>A n.68-570G>A n.759G>A c.6722G>A (p.Gly2241Asp) c.7622G>A (p.Gly2541Asp) c.7544G>A (p.Gly2515Asp) c.7520G>A (p.Gly2507Asp) c.7517G>A (p.Gly2506Asp) | |
X | g.154349401C>A | CA415179589 | FLNA | c.7693G>T (p.Gly2565Cys) c.7717G>T (p.Gly2573Cys) c.7636G>T (p.Gly2546Cys) c.4498G>T (p.Gly1500Cys) c.7774G>T (n.7774G>T) c.280-711G>T c.7996G>T (n.7996G>T) n.3435G>T c.7597G>T (p.Gly2533Cys) c.7673G>T (n.7673G>T) n.872G>T n.4946G>T n.68-571G>T n.758G>T c.6721G>T (p.Gly2241Cys) c.7621G>T (p.Gly2541Cys) c.7543G>T (p.Gly2515Cys) c.7519G>T (p.Gly2507Cys) c.7516G>T (p.Gly2506Cys) | |
X | g.154349401C= | CA2466652031 | FLNA | c.7693G= (p.Gly2565=) c.7717G= (p.Gly2573=) c.7636G= (p.Gly2546=) c.4498G= (p.Gly1500=) c.7774G= (n.7774G=) c.280-711G= c.7996G= (n.7996G=) n.3435G= c.7597G= (p.Gly2533=) c.7673G= (n.7673G=) n.872G= n.4946G= n.68-571G= n.758G= c.6721G= (p.Gly2241=) c.7621G= (p.Gly2541=) c.7543G= (p.Gly2515=) c.7519G= (p.Gly2507=) c.7516G= (p.Gly2506=) | |
X | g.154349401C>G | CA415179591 | FLNA | c.7693G>C (p.Gly2565Arg) c.7717G>C (p.Gly2573Arg) c.7636G>C (p.Gly2546Arg) c.4498G>C (p.Gly1500Arg) c.7774G>C (n.7774G>C) c.280-711G>C c.7996G>C (n.7996G>C) n.3435G>C c.7597G>C (p.Gly2533Arg) c.7673G>C (n.7673G>C) n.872G>C n.4946G>C n.68-571G>C n.758G>C c.6721G>C (p.Gly2241Arg) c.7621G>C (p.Gly2541Arg) c.7543G>C (p.Gly2515Arg) c.7519G>C (p.Gly2507Arg) c.7516G>C (p.Gly2506Arg) | |
X | g.154349401C>T | CA415179593 | FLNA | c.7693G>A (p.Gly2565Ser) c.7717G>A (p.Gly2573Ser) c.7636G>A (p.Gly2546Ser) c.4498G>A (p.Gly1500Ser) c.7774G>A (n.7774G>A) c.280-711G>A c.7996G>A (n.7996G>A) n.3435G>A c.7597G>A (p.Gly2533Ser) c.7673G>A (n.7673G>A) n.872G>A n.4946G>A n.68-571G>A n.758G>A c.6721G>A (p.Gly2241Ser) c.7621G>A (p.Gly2541Ser) c.7543G>A (p.Gly2515Ser) c.7519G>A (p.Gly2507Ser) c.7516G>A (p.Gly2506Ser) | dbSNP |
X | g.154349402T>A | CA519276292 | FLNA | c.7692A>T (p.Val2564=) c.7716A>T (p.Val2572=) c.7635A>T (p.Val2545=) c.4497A>T (p.Val1499=) c.7773A>T (n.7773A>T) c.280-712A>T c.7995A>T (n.7995A>T) n.3434A>T c.7596A>T (p.Val2532=) c.7672A>T (n.7672A>T) n.871A>T n.4945A>T n.68-572A>T n.757A>T c.6720A>T (p.Val2240=) c.7620A>T (p.Val2540=) c.7542A>T (p.Val2514=) c.7518A>T (p.Val2506=) c.7515A>T (p.Val2505=) | |
X | g.154349402T>C | CA519276294 | FLNA | c.7692A>G (p.Val2564=) c.7716A>G (p.Val2572=) c.7635A>G (p.Val2545=) c.4497A>G (p.Val1499=) c.7773A>G (n.7773A>G) c.280-712A>G c.7995A>G (n.7995A>G) n.3434A>G c.7596A>G (p.Val2532=) c.7672A>G (n.7672A>G) n.871A>G n.4945A>G n.68-572A>G n.757A>G c.6720A>G (p.Val2240=) c.7620A>G (p.Val2540=) c.7542A>G (p.Val2514=) c.7518A>G (p.Val2506=) c.7515A>G (p.Val2505=) | |
X | g.154349402T>G | CA519276293 | FLNA | c.7692A>C (p.Val2564=) c.7716A>C (p.Val2572=) c.7635A>C (p.Val2545=) c.4497A>C (p.Val1499=) c.7773A>C (n.7773A>C) c.280-712A>C c.7995A>C (n.7995A>C) n.3434A>C c.7596A>C (p.Val2532=) c.7672A>C (n.7672A>C) n.871A>C n.4945A>C n.68-572A>C n.757A>C c.6720A>C (p.Val2240=) c.7620A>C (p.Val2540=) c.7542A>C (p.Val2514=) c.7518A>C (p.Val2506=) c.7515A>C (p.Val2505=) | |
X | g.154349403A= | CA2466652032 | FLNA | c.7691T= (p.Val2564=) c.7715T= (p.Val2572=) c.7634T= (p.Val2545=) c.4496T= (p.Val1499=) c.7772T= (n.7772T=) c.280-713T= c.7994T= (n.7994T=) n.3433T= c.7595T= (p.Val2532=) c.7671T= (n.7671T=) n.870T= n.4944T= n.68-573T= n.756T= c.6719T= (p.Val2240=) c.7619T= (p.Val2540=) c.7541T= (p.Val2514=) c.7517T= (p.Val2506=) c.7514T= (p.Val2505=) | |
X | g.154349403A>C | CA415179598 | FLNA | c.7691T>G (p.Val2564Gly) c.7715T>G (p.Val2572Gly) c.7634T>G (p.Val2545Gly) c.4496T>G (p.Val1499Gly) c.7772T>G (n.7772T>G) c.280-713T>G c.7994T>G (n.7994T>G) n.3433T>G c.7595T>G (p.Val2532Gly) c.7671T>G (n.7671T>G) n.870T>G n.4944T>G n.68-573T>G n.756T>G c.6719T>G (p.Val2240Gly) c.7619T>G (p.Val2540Gly) c.7541T>G (p.Val2514Gly) c.7517T>G (p.Val2506Gly) c.7514T>G (p.Val2505Gly) | |
X | g.154349403A>G | CA10559850 | FLNA | c.7691T>C (p.Val2564Ala) c.7715T>C (p.Val2572Ala) c.7634T>C (p.Val2545Ala) c.4496T>C (p.Val1499Ala) c.7772T>C (n.7772T>C) c.280-713T>C c.7994T>C (n.7994T>C) n.3433T>C c.7595T>C (p.Val2532Ala) c.7671T>C (n.7671T>C) n.870T>C n.4944T>C n.68-573T>C n.756T>C c.6719T>C (p.Val2240Ala) c.7619T>C (p.Val2540Ala) c.7541T>C (p.Val2514Ala) c.7517T>C (p.Val2506Ala) c.7514T>C (p.Val2505Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.154349403A>T | CA415179603 | FLNA | c.7691T>A (p.Val2564Glu) c.7715T>A (p.Val2572Glu) c.7634T>A (p.Val2545Glu) c.4496T>A (p.Val1499Glu) c.7772T>A (n.7772T>A) c.280-713T>A c.7994T>A (n.7994T>A) n.3433T>A c.7595T>A (p.Val2532Glu) c.7671T>A (n.7671T>A) n.870T>A n.4944T>A n.68-573T>A n.756T>A c.6719T>A (p.Val2240Glu) c.7619T>A (p.Val2540Glu) c.7541T>A (p.Val2514Glu) c.7517T>A (p.Val2506Glu) c.7514T>A (p.Val2505Glu) | |
X | g.154349404C>A | CA415179609 | FLNA | c.7690G>T (p.Val2564Leu) c.7714G>T (p.Val2572Leu) c.7633G>T (p.Val2545Leu) c.4495G>T (p.Val1499Leu) c.7771G>T (n.7771G>T) c.280-714G>T c.7993G>T (n.7993G>T) n.3432G>T c.7594G>T (p.Val2532Leu) c.7670G>T (n.7670G>T) n.869G>T n.4943G>T n.68-574G>T n.755G>T c.6718G>T (p.Val2240Leu) c.7618G>T (p.Val2540Leu) c.7540G>T (p.Val2514Leu) c.7516G>T (p.Val2506Leu) c.7513G>T (p.Val2505Leu) | |
X | g.154349404C= | CA2466652033 | FLNA | c.7690G= (p.Val2564=) c.7714G= (p.Val2572=) c.7633G= (p.Val2545=) c.4495G= (p.Val1499=) c.7771G= (n.7771G=) c.280-714G= c.7993G= (n.7993G=) n.3432G= c.7594G= (p.Val2532=) c.7670G= (n.7670G=) n.869G= n.4943G= n.68-574G= n.755G= c.6718G= (p.Val2240=) c.7618G= (p.Val2540=) c.7540G= (p.Val2514=) c.7516G= (p.Val2506=) c.7513G= (p.Val2505=) | |
X | g.154349404C>G | CA415179617 | FLNA | c.7690G>C (p.Val2564Leu) c.7714G>C (p.Val2572Leu) c.7633G>C (p.Val2545Leu) c.4495G>C (p.Val1499Leu) c.7771G>C (n.7771G>C) c.280-714G>C c.7993G>C (n.7993G>C) n.3432G>C c.7594G>C (p.Val2532Leu) c.7670G>C (n.7670G>C) n.869G>C n.4943G>C n.68-574G>C n.755G>C c.6718G>C (p.Val2240Leu) c.7618G>C (p.Val2540Leu) c.7540G>C (p.Val2514Leu) c.7516G>C (p.Val2506Leu) c.7513G>C (p.Val2505Leu) | |
X | g.154349404C>T | CA10559851 | FLNA | c.7690G>A (p.Val2564Ile) c.7714G>A (p.Val2572Ile) c.7633G>A (p.Val2545Ile) c.4495G>A (p.Val1499Ile) c.7771G>A (n.7771G>A) c.280-714G>A c.7993G>A (n.7993G>A) n.3432G>A c.7594G>A (p.Val2532Ile) c.7670G>A (n.7670G>A) n.869G>A n.4943G>A n.68-574G>A n.755G>A c.6718G>A (p.Val2240Ile) c.7618G>A (p.Val2540Ile) c.7540G>A (p.Val2514Ile) c.7516G>A (p.Val2506Ile) c.7513G>A (p.Val2505Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
X | g.154349405G>A | CA10559852 | FLNA | c.7689C>T (p.Tyr2563=) c.7713C>T (p.Tyr2571=) c.7632C>T (p.Tyr2544=) c.4494C>T (p.Tyr1498=) c.7770C>T (n.7770C>T) c.280-715C>T c.7992C>T (n.7992C>T) n.3431C>T c.7593C>T (p.Tyr2531=) c.7669C>T (n.7669C>T) n.868C>T n.4942C>T n.68-575C>T n.754C>T c.6717C>T (p.Tyr2239=) c.7617C>T (p.Tyr2539=) c.7539C>T (p.Tyr2513=) c.7515C>T (p.Tyr2505=) c.7512C>T (p.Tyr2504=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.154349405G>C | CA415179636 | FLNA | c.7689C>G (p.Tyr2563Ter) c.7713C>G (p.Tyr2571Ter) c.7632C>G (p.Tyr2544Ter) c.4494C>G (p.Tyr1498Ter) c.7770C>G (n.7770C>G) c.280-715C>G c.7992C>G (n.7992C>G) n.3431C>G c.7593C>G (p.Tyr2531Ter) c.7669C>G (n.7669C>G) n.868C>G n.4942C>G n.68-575C>G n.754C>G c.6717C>G (p.Tyr2239Ter) c.7617C>G (p.Tyr2539Ter) c.7539C>G (p.Tyr2513Ter) c.7515C>G (p.Tyr2505Ter) c.7512C>G (p.Tyr2504Ter) | |
X | g.154349405G= | CA2466652034 | FLNA | c.7689C= (p.Tyr2563=) c.7713C= (p.Tyr2571=) c.7632C= (p.Tyr2544=) c.4494C= (p.Tyr1498=) c.7770C= (n.7770C=) c.280-715C= c.7992C= (n.7992C=) n.3431C= c.7593C= (p.Tyr2531=) c.7669C= (n.7669C=) n.868C= n.4942C= n.68-575C= n.754C= c.6717C= (p.Tyr2239=) c.7617C= (p.Tyr2539=) c.7539C= (p.Tyr2513=) c.7515C= (p.Tyr2505=) c.7512C= (p.Tyr2504=) | |
X | g.154349405G>T | CA415179631 | FLNA | c.7689C>A (p.Tyr2563Ter) c.7713C>A (p.Tyr2571Ter) c.7632C>A (p.Tyr2544Ter) c.4494C>A (p.Tyr1498Ter) c.7770C>A (n.7770C>A) c.280-715C>A c.7992C>A (n.7992C>A) n.3431C>A c.7593C>A (p.Tyr2531Ter) c.7669C>A (n.7669C>A) n.868C>A n.4942C>A n.68-575C>A n.754C>A c.6717C>A (p.Tyr2239Ter) c.7617C>A (p.Tyr2539Ter) c.7539C>A (p.Tyr2513Ter) c.7515C>A (p.Tyr2505Ter) c.7512C>A (p.Tyr2504Ter) | |
X | g.154349406T>A | CA10559853 | FLNA | c.7688A>T (p.Tyr2563Phe) c.7712A>T (p.Tyr2571Phe) c.7631A>T (p.Tyr2544Phe) c.4493A>T (p.Tyr1498Phe) c.7769A>T (n.7769A>T) c.280-716A>T c.7991A>T (n.7991A>T) n.3430A>T c.7592A>T (p.Tyr2531Phe) c.7668A>T (n.7668A>T) n.867A>T n.4941A>T n.68-576A>T n.753A>T c.6716A>T (p.Tyr2239Phe) c.7616A>T (p.Tyr2539Phe) c.7538A>T (p.Tyr2513Phe) c.7514A>T (p.Tyr2505Phe) c.7511A>T (p.Tyr2504Phe) | dbSNP ExAC gnomAD v4 |
X | g.154349406T>C | CA415179648 | FLNA | c.7688A>G (p.Tyr2563Cys) c.7712A>G (p.Tyr2571Cys) c.7631A>G (p.Tyr2544Cys) c.4493A>G (p.Tyr1498Cys) c.7769A>G (n.7769A>G) c.280-716A>G c.7991A>G (n.7991A>G) n.3430A>G c.7592A>G (p.Tyr2531Cys) c.7668A>G (n.7668A>G) n.867A>G n.4941A>G n.68-576A>G n.753A>G c.6716A>G (p.Tyr2239Cys) c.7616A>G (p.Tyr2539Cys) c.7538A>G (p.Tyr2513Cys) c.7514A>G (p.Tyr2505Cys) c.7511A>G (p.Tyr2504Cys) | |
X | g.154349406T>G | CA415179653 | FLNA | c.7688A>C (p.Tyr2563Ser) c.7712A>C (p.Tyr2571Ser) c.7631A>C (p.Tyr2544Ser) c.4493A>C (p.Tyr1498Ser) c.7769A>C (n.7769A>C) c.280-716A>C c.7991A>C (n.7991A>C) n.3430A>C c.7592A>C (p.Tyr2531Ser) c.7668A>C (n.7668A>C) n.867A>C n.4941A>C n.68-576A>C n.753A>C c.6716A>C (p.Tyr2239Ser) c.7616A>C (p.Tyr2539Ser) c.7538A>C (p.Tyr2513Ser) c.7514A>C (p.Tyr2505Ser) c.7511A>C (p.Tyr2504Ser) | |
X | g.154349406T= | CA2466652035 | FLNA | c.7688A= (p.Tyr2563=) c.7712A= (p.Tyr2571=) c.7631A= (p.Tyr2544=) c.4493A= (p.Tyr1498=) c.7769A= (n.7769A=) c.280-716A= c.7991A= (n.7991A=) n.3430A= c.7592A= (p.Tyr2531=) c.7668A= (n.7668A=) n.867A= n.4941A= n.68-576A= n.753A= c.6716A= (p.Tyr2239=) c.7616A= (p.Tyr2539=) c.7538A= (p.Tyr2513=) c.7514A= (p.Tyr2505=) c.7511A= (p.Tyr2504=) | |
X | g.154349407A>C | CA415179657 | FLNA | c.7687T>G (p.Tyr2563Asp) c.7711T>G (p.Tyr2571Asp) c.7630T>G (p.Tyr2544Asp) c.4492T>G (p.Tyr1498Asp) c.7768T>G (n.7768T>G) c.280-717T>G c.7990T>G (n.7990T>G) n.3429T>G c.7591T>G (p.Tyr2531Asp) c.7667T>G (n.7667T>G) n.866T>G n.4940T>G n.68-577T>G n.752T>G c.6715T>G (p.Tyr2239Asp) c.7615T>G (p.Tyr2539Asp) c.7537T>G (p.Tyr2513Asp) c.7513T>G (p.Tyr2505Asp) c.7510T>G (p.Tyr2504Asp) | |
X | g.154349407A>G | CA415179660 | FLNA | c.7687T>C (p.Tyr2563His) c.7711T>C (p.Tyr2571His) c.7630T>C (p.Tyr2544His) c.4492T>C (p.Tyr1498His) c.7768T>C (n.7768T>C) c.280-717T>C c.7990T>C (n.7990T>C) n.3429T>C c.7591T>C (p.Tyr2531His) c.7667T>C (n.7667T>C) n.866T>C n.4940T>C n.68-577T>C n.752T>C c.6715T>C (p.Tyr2239His) c.7615T>C (p.Tyr2539His) c.7537T>C (p.Tyr2513His) c.7513T>C (p.Tyr2505His) c.7510T>C (p.Tyr2504His) | |
X | g.154349407A>T | CA415179665 | FLNA | c.7687T>A (p.Tyr2563Asn) c.7711T>A (p.Tyr2571Asn) c.7630T>A (p.Tyr2544Asn) c.4492T>A (p.Tyr1498Asn) c.7768T>A (n.7768T>A) c.280-717T>A c.7990T>A (n.7990T>A) n.3429T>A c.7591T>A (p.Tyr2531Asn) c.7667T>A (n.7667T>A) n.866T>A n.4940T>A n.68-577T>A n.752T>A c.6715T>A (p.Tyr2239Asn) c.7615T>A (p.Tyr2539Asn) c.7537T>A (p.Tyr2513Asn) c.7513T>A (p.Tyr2505Asn) c.7510T>A (p.Tyr2504Asn) | |
X | g.154349408G>A | CA519276295 | FLNA | c.7686C>T (p.Ala2562=) c.7710C>T (p.Ala2570=) c.7629C>T (p.Ala2543=) c.4491C>T (p.Ala1497=) c.7767C>T (n.7767C>T) c.280-718C>T c.7989C>T (n.7989C>T) n.3428C>T c.7590C>T (p.Ala2530=) c.7666C>T (n.7666C>T) n.865C>T n.4939C>T n.68-578C>T n.751C>T c.6714C>T (p.Ala2238=) c.7614C>T (p.Ala2538=) c.7536C>T (p.Ala2512=) c.7512C>T (p.Ala2504=) c.7509C>T (p.Ala2503=) | dbSNP gnomAD v2 gnomAD v4 |
X | g.154349408G>C | CA10559854 | FLNA | c.7686C>G (p.Ala2562=) c.7710C>G (p.Ala2570=) c.7629C>G (p.Ala2543=) c.4491C>G (p.Ala1497=) c.7767C>G (n.7767C>G) c.280-718C>G c.7989C>G (n.7989C>G) n.3428C>G c.7590C>G (p.Ala2530=) c.7666C>G (n.7666C>G) n.865C>G n.4939C>G n.68-578C>G n.751C>G c.6714C>G (p.Ala2238=) c.7614C>G (p.Ala2538=) c.7536C>G (p.Ala2512=) c.7512C>G (p.Ala2504=) c.7509C>G (p.Ala2503=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.154349408G= | CA2466652036 | FLNA | c.7686C= (p.Ala2562=) c.7710C= (p.Ala2570=) c.7629C= (p.Ala2543=) c.4491C= (p.Ala1497=) c.7767C= (n.7767C=) c.280-718C= c.7989C= (n.7989C=) n.3428C= c.7590C= (p.Ala2530=) c.7666C= (n.7666C=) n.865C= n.4939C= n.68-578C= n.751C= c.6714C= (p.Ala2238=) c.7614C= (p.Ala2538=) c.7536C= (p.Ala2512=) c.7512C= (p.Ala2504=) c.7509C= (p.Ala2503=) | |
X | g.154349408G>T | CA519276296 | FLNA | c.7686C>A (p.Ala2562=) c.7710C>A (p.Ala2570=) c.7629C>A (p.Ala2543=) c.4491C>A (p.Ala1497=) c.7767C>A (n.7767C>A) c.280-718C>A c.7989C>A (n.7989C>A) n.3428C>A c.7590C>A (p.Ala2530=) c.7666C>A (n.7666C>A) n.865C>A n.4939C>A n.68-578C>A n.751C>A c.6714C>A (p.Ala2238=) c.7614C>A (p.Ala2538=) c.7536C>A (p.Ala2512=) c.7512C>A (p.Ala2504=) c.7509C>A (p.Ala2503=) | |
X | g.154349409G>A | CA415179689 | FLNA | c.7685C>T (p.Ala2562Val) c.7709C>T (p.Ala2570Val) c.7628C>T (p.Ala2543Val) c.4490C>T (p.Ala1497Val) c.7766C>T (n.7766C>T) c.280-719C>T c.7988C>T (n.7988C>T) n.3427C>T c.7589C>T (p.Ala2530Val) c.7665C>T (n.7665C>T) n.864C>T n.4938C>T n.68-579C>T n.750C>T c.6713C>T (p.Ala2238Val) c.7613C>T (p.Ala2538Val) c.7535C>T (p.Ala2512Val) c.7511C>T (p.Ala2504Val) c.7508C>T (p.Ala2503Val) | |
X | g.154349409G>C | CA415179692 | FLNA | c.7685C>G (p.Ala2562Gly) c.7709C>G (p.Ala2570Gly) c.7628C>G (p.Ala2543Gly) c.4490C>G (p.Ala1497Gly) c.7766C>G (n.7766C>G) c.280-719C>G c.7988C>G (n.7988C>G) n.3427C>G c.7589C>G (p.Ala2530Gly) c.7665C>G (n.7665C>G) n.864C>G n.4938C>G n.68-579C>G n.750C>G c.6713C>G (p.Ala2238Gly) c.7613C>G (p.Ala2538Gly) c.7535C>G (p.Ala2512Gly) c.7511C>G (p.Ala2504Gly) c.7508C>G (p.Ala2503Gly) | |
X | g.154349409G>T | CA415179697 | FLNA | c.7685C>A (p.Ala2562Asp) c.7709C>A (p.Ala2570Asp) c.7628C>A (p.Ala2543Asp) c.4490C>A (p.Ala1497Asp) c.7766C>A (n.7766C>A) c.280-719C>A c.7988C>A (n.7988C>A) n.3427C>A c.7589C>A (p.Ala2530Asp) c.7665C>A (n.7665C>A) n.864C>A n.4938C>A n.68-579C>A n.750C>A c.6713C>A (p.Ala2238Asp) c.7613C>A (p.Ala2538Asp) c.7535C>A (p.Ala2512Asp) c.7511C>A (p.Ala2504Asp) c.7508C>A (p.Ala2503Asp) | |
X | g.154349410C>A | CA415179717 | FLNA | c.7684G>T (p.Ala2562Ser) c.7708G>T (p.Ala2570Ser) c.7627G>T (p.Ala2543Ser) c.4489G>T (p.Ala1497Ser) c.7765G>T (n.7765G>T) c.280-720G>T c.7987G>T (n.7987G>T) n.3426G>T c.7588G>T (p.Ala2530Ser) c.7664G>T (n.7664G>T) n.863G>T n.4937G>T n.68-580G>T n.749G>T c.6712G>T (p.Ala2238Ser) c.7612G>T (p.Ala2538Ser) c.7534G>T (p.Ala2512Ser) c.7510G>T (p.Ala2504Ser) c.7507G>T (p.Ala2503Ser) | |
X | g.154349410C= | CA2466652037 | FLNA | c.7684G= (p.Ala2562=) c.7708G= (p.Ala2570=) c.7627G= (p.Ala2543=) c.4489G= (p.Ala1497=) c.7765G= (n.7765G=) c.280-720G= c.7987G= (n.7987G=) n.3426G= c.7588G= (p.Ala2530=) c.7664G= (n.7664G=) n.863G= n.4937G= n.68-580G= n.749G= c.6712G= (p.Ala2238=) c.7612G= (p.Ala2538=) c.7534G= (p.Ala2512=) c.7510G= (p.Ala2504=) c.7507G= (p.Ala2503=) | |
X | g.154349410C>G | CA415179709 | FLNA | c.7684G>C (p.Ala2562Pro) c.7708G>C (p.Ala2570Pro) c.7627G>C (p.Ala2543Pro) c.4489G>C (p.Ala1497Pro) c.7765G>C (n.7765G>C) c.280-720G>C c.7987G>C (n.7987G>C) n.3426G>C c.7588G>C (p.Ala2530Pro) c.7664G>C (n.7664G>C) n.863G>C n.4937G>C n.68-580G>C n.749G>C c.6712G>C (p.Ala2238Pro) c.7612G>C (p.Ala2538Pro) c.7534G>C (p.Ala2512Pro) c.7510G>C (p.Ala2504Pro) c.7507G>C (p.Ala2503Pro) | |
X | g.154349410C>T | CA415179703 | FLNA | c.7684G>A (p.Ala2562Thr) c.7708G>A (p.Ala2570Thr) c.7627G>A (p.Ala2543Thr) c.4489G>A (p.Ala1497Thr) c.7765G>A (n.7765G>A) c.280-720G>A c.7987G>A (n.7987G>A) n.3426G>A c.7588G>A (p.Ala2530Thr) c.7664G>A (n.7664G>A) n.863G>A n.4937G>A n.68-580G>A n.749G>A c.6712G>A (p.Ala2238Thr) c.7612G>A (p.Ala2538Thr) c.7534G>A (p.Ala2512Thr) c.7510G>A (p.Ala2504Thr) c.7507G>A (p.Ala2503Thr) | dbSNP gnomAD v4 |
X | g.154349411C>A | CA415179720 | FLNA | c.7683G>T (p.Lys2561Asn) c.7707G>T (p.Lys2569Asn) c.7626G>T (p.Lys2542Asn) c.4488G>T (p.Lys1496Asn) c.7764G>T (n.7764G>T) c.280-721G>T c.7986G>T (n.7986G>T) n.3425G>T c.7587G>T (p.Lys2529Asn) c.7663G>T (n.7663G>T) n.862G>T n.4936G>T n.68-581G>T n.748G>T c.6711G>T (p.Lys2237Asn) c.7611G>T (p.Lys2537Asn) c.7533G>T (p.Lys2511Asn) c.7509G>T (p.Lys2503Asn) c.7506G>T (p.Lys2502Asn) | |
X | g.154349411C>G | CA415179723 | FLNA | c.7683G>C (p.Lys2561Asn) c.7707G>C (p.Lys2569Asn) c.7626G>C (p.Lys2542Asn) c.4488G>C (p.Lys1496Asn) c.7764G>C (n.7764G>C) c.280-721G>C c.7986G>C (n.7986G>C) n.3425G>C c.7587G>C (p.Lys2529Asn) c.7663G>C (n.7663G>C) n.862G>C n.4936G>C n.68-581G>C n.748G>C c.6711G>C (p.Lys2237Asn) c.7611G>C (p.Lys2537Asn) c.7533G>C (p.Lys2511Asn) c.7509G>C (p.Lys2503Asn) c.7506G>C (p.Lys2502Asn) | |
X | g.154349411C>T | CA519276297 | FLNA | c.7683G>A (p.Lys2561=) c.7707G>A (p.Lys2569=) c.7626G>A (p.Lys2542=) c.4488G>A (p.Lys1496=) c.7764G>A (n.7764G>A) c.280-721G>A c.7986G>A (n.7986G>A) n.3425G>A c.7587G>A (p.Lys2529=) c.7663G>A (n.7663G>A) n.862G>A n.4936G>A n.68-581G>A n.748G>A c.6711G>A (p.Lys2237=) c.7611G>A (p.Lys2537=) c.7533G>A (p.Lys2511=) c.7509G>A (p.Lys2503=) c.7506G>A (p.Lys2502=) | |
X | g.154349412T>A | CA415179725 | FLNA | c.7682A>T (p.Lys2561Met) c.7706A>T (p.Lys2569Met) c.7625A>T (p.Lys2542Met) c.4487A>T (p.Lys1496Met) c.7763A>T (n.7763A>T) c.280-722A>T c.7985A>T (n.7985A>T) n.3424A>T c.7586A>T (p.Lys2529Met) c.7662A>T (n.7662A>T) n.861A>T n.4935A>T n.68-582A>T n.747A>T c.6710A>T (p.Lys2237Met) c.7610A>T (p.Lys2537Met) c.7532A>T (p.Lys2511Met) c.7508A>T (p.Lys2503Met) c.7505A>T (p.Lys2502Met) | dbSNP gnomAD v2 gnomAD v4 |
X | g.154349412T>C | CA415179728 | FLNA | c.7682A>G (p.Lys2561Arg) c.7706A>G (p.Lys2569Arg) c.7625A>G (p.Lys2542Arg) c.4487A>G (p.Lys1496Arg) c.7763A>G (n.7763A>G) c.280-722A>G c.7985A>G (n.7985A>G) n.3424A>G c.7586A>G (p.Lys2529Arg) c.7662A>G (n.7662A>G) n.861A>G n.4935A>G n.68-582A>G n.747A>G c.6710A>G (p.Lys2237Arg) c.7610A>G (p.Lys2537Arg) c.7532A>G (p.Lys2511Arg) c.7508A>G (p.Lys2503Arg) c.7505A>G (p.Lys2502Arg) | |
X | g.154349412T>G | CA415179733 | FLNA | c.7682A>C (p.Lys2561Thr) c.7706A>C (p.Lys2569Thr) c.7625A>C (p.Lys2542Thr) c.4487A>C (p.Lys1496Thr) c.7763A>C (n.7763A>C) c.280-722A>C c.7985A>C (n.7985A>C) n.3424A>C c.7586A>C (p.Lys2529Thr) c.7662A>C (n.7662A>C) n.861A>C n.4935A>C n.68-582A>C n.747A>C c.6710A>C (p.Lys2237Thr) c.7610A>C (p.Lys2537Thr) c.7532A>C (p.Lys2511Thr) c.7508A>C (p.Lys2503Thr) c.7505A>C (p.Lys2502Thr) | dbSNP gnomAD v3 gnomAD v4 |
X | g.154349412T= | CA2466652038 | FLNA | c.7682A= (p.Lys2561=) c.7706A= (p.Lys2569=) c.7625A= (p.Lys2542=) c.4487A= (p.Lys1496=) c.7763A= (n.7763A=) c.280-722A= c.7985A= (n.7985A=) n.3424A= c.7586A= (p.Lys2529=) c.7662A= (n.7662A=) n.861A= n.4935A= n.68-582A= n.747A= c.6710A= (p.Lys2237=) c.7610A= (p.Lys2537=) c.7532A= (p.Lys2511=) c.7508A= (p.Lys2503=) c.7505A= (p.Lys2502=) | |
X | g.154349413T>A | CA415179738 | FLNA | c.7681A>T (p.Lys2561Ter) c.7705A>T (p.Lys2569Ter) c.7624A>T (p.Lys2542Ter) c.4486A>T (p.Lys1496Ter) c.7762A>T (n.7762A>T) c.280-723A>T c.7984A>T (n.7984A>T) n.3423A>T c.7585A>T (p.Lys2529Ter) c.7661A>T (n.7661A>T) n.860A>T n.4934A>T n.68-583A>T n.746A>T c.6709A>T (p.Lys2237Ter) c.7609A>T (p.Lys2537Ter) c.7531A>T (p.Lys2511Ter) c.7507A>T (p.Lys2503Ter) c.7504A>T (p.Lys2502Ter) | |
X | g.154349413T>C | CA415179740 | FLNA | c.7681A>G (p.Lys2561Glu) c.7705A>G (p.Lys2569Glu) c.7624A>G (p.Lys2542Glu) c.4486A>G (p.Lys1496Glu) c.7762A>G (n.7762A>G) c.280-723A>G c.7984A>G (n.7984A>G) n.3423A>G c.7585A>G (p.Lys2529Glu) c.7661A>G (n.7661A>G) n.860A>G n.4934A>G n.68-583A>G n.746A>G c.6709A>G (p.Lys2237Glu) c.7609A>G (p.Lys2537Glu) c.7531A>G (p.Lys2511Glu) c.7507A>G (p.Lys2503Glu) c.7504A>G (p.Lys2502Glu) | dbSNP gnomAD v4 |
X | g.154349413T>G | CA415179744 | FLNA | c.7681A>C (p.Lys2561Gln) c.7705A>C (p.Lys2569Gln) c.7624A>C (p.Lys2542Gln) c.4486A>C (p.Lys1496Gln) c.7762A>C (n.7762A>C) c.280-723A>C c.7984A>C (n.7984A>C) n.3423A>C c.7585A>C (p.Lys2529Gln) c.7661A>C (n.7661A>C) n.860A>C n.4934A>C n.68-583A>C n.746A>C c.6709A>C (p.Lys2237Gln) c.7609A>C (p.Lys2537Gln) c.7531A>C (p.Lys2511Gln) c.7507A>C (p.Lys2503Gln) c.7504A>C (p.Lys2502Gln) | |
X | g.154349413T= | CA2466652039 | FLNA | c.7681A= (p.Lys2561=) c.7705A= (p.Lys2569=) c.7624A= (p.Lys2542=) c.4486A= (p.Lys1496=) c.7762A= (n.7762A=) c.280-723A= c.7984A= (n.7984A=) n.3423A= c.7585A= (p.Lys2529=) c.7661A= (n.7661A=) n.860A= n.4934A= n.68-583A= n.746A= c.6709A= (p.Lys2237=) c.7609A= (p.Lys2537=) c.7531A= (p.Lys2511=) c.7507A= (p.Lys2503=) c.7504A= (p.Lys2502=) | |
X | g.154349414G>A | CA519276298 | FLNA | c.7680C>T (p.Ser2560=) c.7704C>T (p.Ser2568=) c.7623C>T (p.Ser2541=) c.4485C>T (p.Ser1495=) c.7761C>T (n.7761C>T) c.280-724C>T c.7983C>T (n.7983C>T) n.3422C>T c.7584C>T (p.Ser2528=) c.7660C>T (n.7660C>T) n.859C>T n.4933C>T n.68-584C>T n.745C>T c.6708C>T (p.Ser2236=) c.7608C>T (p.Ser2536=) c.7530C>T (p.Ser2510=) c.7506C>T (p.Ser2502=) c.7503C>T (p.Ser2501=) | |
X | g.154349414G>C | CA415179747 | FLNA | c.7680C>G (p.Ser2560Arg) c.7704C>G (p.Ser2568Arg) c.7623C>G (p.Ser2541Arg) c.4485C>G (p.Ser1495Arg) c.7761C>G (n.7761C>G) c.280-724C>G c.7983C>G (n.7983C>G) n.3422C>G c.7584C>G (p.Ser2528Arg) c.7660C>G (n.7660C>G) n.859C>G n.4933C>G n.68-584C>G n.745C>G c.6708C>G (p.Ser2236Arg) c.7608C>G (p.Ser2536Arg) c.7530C>G (p.Ser2510Arg) c.7506C>G (p.Ser2502Arg) c.7503C>G (p.Ser2501Arg) | gnomAD v4 |
X | g.154349414G>T | CA415179748 | FLNA | c.7680C>A (p.Ser2560Arg) c.7704C>A (p.Ser2568Arg) c.7623C>A (p.Ser2541Arg) c.4485C>A (p.Ser1495Arg) c.7761C>A (n.7761C>A) c.280-724C>A c.7983C>A (n.7983C>A) n.3422C>A c.7584C>A (p.Ser2528Arg) c.7660C>A (n.7660C>A) n.859C>A n.4933C>A n.68-584C>A n.745C>A c.6708C>A (p.Ser2236Arg) c.7608C>A (p.Ser2536Arg) c.7530C>A (p.Ser2510Arg) c.7506C>A (p.Ser2502Arg) c.7503C>A (p.Ser2501Arg) | |
X | g.154349415C>A | CA415179753 | FLNA | c.7679G>T (p.Ser2560Ile) c.7703G>T (p.Ser2568Ile) c.7622G>T (p.Ser2541Ile) c.4484G>T (p.Ser1495Ile) c.7760G>T (n.7760G>T) c.280-725G>T c.7982G>T (n.7982G>T) n.3421G>T c.7583G>T (p.Ser2528Ile) c.7659G>T (n.7659G>T) n.858G>T n.4932G>T n.68-585G>T n.744G>T c.6707G>T (p.Ser2236Ile) c.7607G>T (p.Ser2536Ile) c.7529G>T (p.Ser2510Ile) c.7505G>T (p.Ser2502Ile) c.7502G>T (p.Ser2501Ile) | |
X | g.154349415C>G | CA415179751 | FLNA | c.7679G>C (p.Ser2560Thr) c.7703G>C (p.Ser2568Thr) c.7622G>C (p.Ser2541Thr) c.4484G>C (p.Ser1495Thr) c.7760G>C (n.7760G>C) c.280-725G>C c.7982G>C (n.7982G>C) n.3421G>C c.7583G>C (p.Ser2528Thr) c.7659G>C (n.7659G>C) n.858G>C n.4932G>C n.68-585G>C n.744G>C c.6707G>C (p.Ser2236Thr) c.7607G>C (p.Ser2536Thr) c.7529G>C (p.Ser2510Thr) c.7505G>C (p.Ser2502Thr) c.7502G>C (p.Ser2501Thr) | |
X | g.154349415C>T | CA415179749 | FLNA | c.7679G>A (p.Ser2560Asn) c.7703G>A (p.Ser2568Asn) c.7622G>A (p.Ser2541Asn) c.4484G>A (p.Ser1495Asn) c.7760G>A (n.7760G>A) c.280-725G>A c.7982G>A (n.7982G>A) n.3421G>A c.7583G>A (p.Ser2528Asn) c.7659G>A (n.7659G>A) n.858G>A n.4932G>A n.68-585G>A n.744G>A c.6707G>A (p.Ser2236Asn) c.7607G>A (p.Ser2536Asn) c.7529G>A (p.Ser2510Asn) c.7505G>A (p.Ser2502Asn) c.7502G>A (p.Ser2501Asn) | gnomAD v4 |
X | g.154349416T>A | CA415179761 | FLNA | c.7678A>T (p.Ser2560Cys) c.7702A>T (p.Ser2568Cys) c.7621A>T (p.Ser2541Cys) c.4483A>T (p.Ser1495Cys) c.7759A>T (n.7759A>T) c.280-726A>T c.7981A>T (n.7981A>T) n.3420A>T c.7582A>T (p.Ser2528Cys) c.7658A>T (n.7658A>T) n.857A>T n.4931A>T n.68-586A>T n.743A>T c.6706A>T (p.Ser2236Cys) c.7606A>T (p.Ser2536Cys) c.7528A>T (p.Ser2510Cys) c.7504A>T (p.Ser2502Cys) c.7501A>T (p.Ser2501Cys) | |
X | g.154349416T>C | CA415179767 | FLNA | c.7678A>G (p.Ser2560Gly) c.7702A>G (p.Ser2568Gly) c.7621A>G (p.Ser2541Gly) c.4483A>G (p.Ser1495Gly) c.7759A>G (n.7759A>G) c.280-726A>G c.7981A>G (n.7981A>G) n.3420A>G c.7582A>G (p.Ser2528Gly) c.7658A>G (n.7658A>G) n.857A>G n.4931A>G n.68-586A>G n.743A>G c.6706A>G (p.Ser2236Gly) c.7606A>G (p.Ser2536Gly) c.7528A>G (p.Ser2510Gly) c.7504A>G (p.Ser2502Gly) c.7501A>G (p.Ser2501Gly) | gnomAD v4 |
X | g.154349416T>G | CA415179771 | FLNA | c.7678A>C (p.Ser2560Arg) c.7702A>C (p.Ser2568Arg) c.7621A>C (p.Ser2541Arg) c.4483A>C (p.Ser1495Arg) c.7759A>C (n.7759A>C) c.280-726A>C c.7981A>C (n.7981A>C) n.3420A>C c.7582A>C (p.Ser2528Arg) c.7658A>C (n.7658A>C) n.857A>C n.4931A>C n.68-586A>C n.743A>C c.6706A>C (p.Ser2236Arg) c.7606A>C (p.Ser2536Arg) c.7528A>C (p.Ser2510Arg) c.7504A>C (p.Ser2502Arg) c.7501A>C (p.Ser2501Arg) | |
X | g.154349417C>A | CA519276299 | FLNA | c.7677G>T (p.Leu2559=) c.7701G>T (p.Leu2567=) c.7620G>T (p.Leu2540=) c.4482G>T (p.Leu1494=) c.7758G>T (n.7758G>T) c.280-727G>T c.7980G>T (n.7980G>T) n.3419G>T c.7581G>T (p.Leu2527=) c.7657G>T (n.7657G>T) n.856G>T n.4930G>T n.68-587G>T n.742G>T c.6705G>T (p.Leu2235=) c.7605G>T (p.Leu2535=) c.7527G>T (p.Leu2509=) c.7503G>T (p.Leu2501=) c.7500G>T (p.Leu2500=) | |
X | g.154349417C>G | CA519276301 | FLNA | c.7677G>C (p.Leu2559=) c.7701G>C (p.Leu2567=) c.7620G>C (p.Leu2540=) c.4482G>C (p.Leu1494=) c.7758G>C (n.7758G>C) c.280-727G>C c.7980G>C (n.7980G>C) n.3419G>C c.7581G>C (p.Leu2527=) c.7657G>C (n.7657G>C) n.856G>C n.4930G>C n.68-587G>C n.742G>C c.6705G>C (p.Leu2235=) c.7605G>C (p.Leu2535=) c.7527G>C (p.Leu2509=) c.7503G>C (p.Leu2501=) c.7500G>C (p.Leu2500=) | |
X | g.154349417C>T | CA519276300 | FLNA | c.7677G>A (p.Leu2559=) c.7701G>A (p.Leu2567=) c.7620G>A (p.Leu2540=) c.4482G>A (p.Leu1494=) c.7758G>A (n.7758G>A) c.280-727G>A c.7980G>A (n.7980G>A) n.3419G>A c.7581G>A (p.Leu2527=) c.7657G>A (n.7657G>A) n.856G>A n.4930G>A n.68-587G>A n.742G>A c.6705G>A (p.Leu2235=) c.7605G>A (p.Leu2535=) c.7527G>A (p.Leu2509=) c.7503G>A (p.Leu2501=) c.7500G>A (p.Leu2500=) | gnomAD v4 COSMIC COSMIC |
X | g.154349418A>C | CA415179776 | FLNA | c.7676T>G (p.Leu2559Arg) c.7700T>G (p.Leu2567Arg) c.7619T>G (p.Leu2540Arg) c.4481T>G (p.Leu1494Arg) c.7757T>G (n.7757T>G) c.280-728T>G c.7979T>G (n.7979T>G) n.3418T>G c.7580T>G (p.Leu2527Arg) c.7656T>G (n.7656T>G) n.855T>G n.4929T>G n.68-588T>G n.741T>G c.6704T>G (p.Leu2235Arg) c.7604T>G (p.Leu2535Arg) c.7526T>G (p.Leu2509Arg) c.7502T>G (p.Leu2501Arg) c.7499T>G (p.Leu2500Arg) | |
X | g.154349418A>G | CA415179779 | FLNA | c.7676T>C (p.Leu2559Pro) c.7700T>C (p.Leu2567Pro) c.7619T>C (p.Leu2540Pro) c.4481T>C (p.Leu1494Pro) c.7757T>C (n.7757T>C) c.280-728T>C c.7979T>C (n.7979T>C) n.3418T>C c.7580T>C (p.Leu2527Pro) c.7656T>C (n.7656T>C) n.855T>C n.4929T>C n.68-588T>C n.741T>C c.6704T>C (p.Leu2235Pro) c.7604T>C (p.Leu2535Pro) c.7526T>C (p.Leu2509Pro) c.7502T>C (p.Leu2501Pro) c.7499T>C (p.Leu2500Pro) | |
X | g.154349418A>T | CA415179783 | FLNA | c.7676T>A (p.Leu2559Gln) c.7700T>A (p.Leu2567Gln) c.7619T>A (p.Leu2540Gln) c.4481T>A (p.Leu1494Gln) c.7757T>A (n.7757T>A) c.280-728T>A c.7979T>A (n.7979T>A) n.3418T>A c.7580T>A (p.Leu2527Gln) c.7656T>A (n.7656T>A) n.855T>A n.4929T>A n.68-588T>A n.741T>A c.6704T>A (p.Leu2235Gln) c.7604T>A (p.Leu2535Gln) c.7526T>A (p.Leu2509Gln) c.7502T>A (p.Leu2501Gln) c.7499T>A (p.Leu2500Gln) | |
X | g.154349419G>A | CA519276302 | FLNA | c.7675C>T (p.Leu2559=) c.7699C>T (p.Leu2567=) c.7618C>T (p.Leu2540=) c.4480C>T (p.Leu1494=) c.7756C>T (n.7756C>T) c.280-729C>T c.7978C>T (n.7978C>T) n.3417C>T c.7579C>T (p.Leu2527=) c.7655C>T (n.7655C>T) n.854C>T n.4928C>T n.68-589C>T n.740C>T c.6703C>T (p.Leu2235=) c.7603C>T (p.Leu2535=) c.7525C>T (p.Leu2509=) c.7501C>T (p.Leu2501=) c.7498C>T (p.Leu2500=) | dbSNP gnomAD v2 gnomAD v4 |
X | g.154349419G>C | CA415179788 | FLNA | c.7675C>G (p.Leu2559Val) c.7699C>G (p.Leu2567Val) c.7618C>G (p.Leu2540Val) c.4480C>G (p.Leu1494Val) c.7756C>G (n.7756C>G) c.280-729C>G c.7978C>G (n.7978C>G) n.3417C>G c.7579C>G (p.Leu2527Val) c.7655C>G (n.7655C>G) n.854C>G n.4928C>G n.68-589C>G n.740C>G c.6703C>G (p.Leu2235Val) c.7603C>G (p.Leu2535Val) c.7525C>G (p.Leu2509Val) c.7501C>G (p.Leu2501Val) c.7498C>G (p.Leu2500Val) | |
X | g.154349419G= | CA2466652040 | FLNA | c.7675C= (p.Leu2559=) c.7699C= (p.Leu2567=) c.7618C= (p.Leu2540=) c.4480C= (p.Leu1494=) c.7756C= (n.7756C=) c.280-729C= c.7978C= (n.7978C=) n.3417C= c.7579C= (p.Leu2527=) c.7655C= (n.7655C=) n.854C= n.4928C= n.68-589C= n.740C= c.6703C= (p.Leu2235=) c.7603C= (p.Leu2535=) c.7525C= (p.Leu2509=) c.7501C= (p.Leu2501=) c.7498C= (p.Leu2500=) | |
X | g.154349419G>T | CA415179785 | FLNA | c.7675C>A (p.Leu2559Met) c.7699C>A (p.Leu2567Met) c.7618C>A (p.Leu2540Met) c.4480C>A (p.Leu1494Met) c.7756C>A (n.7756C>A) c.280-729C>A c.7978C>A (n.7978C>A) n.3417C>A c.7579C>A (p.Leu2527Met) c.7655C>A (n.7655C>A) n.854C>A n.4928C>A n.68-589C>A n.740C>A c.6703C>A (p.Leu2235Met) c.7603C>A (p.Leu2535Met) c.7525C>A (p.Leu2509Met) c.7501C>A (p.Leu2501Met) c.7498C>A (p.Leu2500Met) | |
X | g.154349420C>A | CA519276303 | FLNA | c.7674G>T (p.Gly2558=) c.7698G>T (p.Gly2566=) c.7617G>T (p.Gly2539=) c.4479G>T (p.Gly1493=) c.7755G>T (n.7755G>T) c.280-730G>T c.7977G>T (n.7977G>T) n.3416G>T c.7578G>T (p.Gly2526=) c.7654G>T (n.7654G>T) n.853G>T n.4927G>T n.68-590G>T n.739G>T c.6702G>T (p.Gly2234=) c.7602G>T (p.Gly2534=) c.7524G>T (p.Gly2508=) c.7500G>T (p.Gly2500=) c.7497G>T (p.Gly2499=) | |
X | g.154349420C= | CA2466652041 | FLNA | c.7674G= (p.Gly2558=) c.7698G= (p.Gly2566=) c.7617G= (p.Gly2539=) c.4479G= (p.Gly1493=) c.7755G= (n.7755G=) c.280-730G= c.7977G= (n.7977G=) n.3416G= c.7578G= (p.Gly2526=) c.7654G= (n.7654G=) n.853G= n.4927G= n.68-590G= n.739G= c.6702G= (p.Gly2234=) c.7602G= (p.Gly2534=) c.7524G= (p.Gly2508=) c.7500G= (p.Gly2500=) c.7497G= (p.Gly2499=) | |
X | g.154349420C>G | CA519276304 | FLNA | c.7674G>C (p.Gly2558=) c.7698G>C (p.Gly2566=) c.7617G>C (p.Gly2539=) c.4479G>C (p.Gly1493=) c.7755G>C (n.7755G>C) c.280-730G>C c.7977G>C (n.7977G>C) n.3416G>C c.7578G>C (p.Gly2526=) c.7654G>C (n.7654G>C) n.853G>C n.4927G>C n.68-590G>C n.739G>C c.6702G>C (p.Gly2234=) c.7602G>C (p.Gly2534=) c.7524G>C (p.Gly2508=) c.7500G>C (p.Gly2500=) c.7497G>C (p.Gly2499=) | |
X | g.154349420C>T | CA519276305 | FLNA | c.7674G>A (p.Gly2558=) c.7698G>A (p.Gly2566=) c.7617G>A (p.Gly2539=) c.4479G>A (p.Gly1493=) c.7755G>A (n.7755G>A) c.280-730G>A c.7977G>A (n.7977G>A) n.3416G>A c.7578G>A (p.Gly2526=) c.7654G>A (n.7654G>A) n.853G>A n.4927G>A n.68-590G>A n.739G>A c.6702G>A (p.Gly2234=) c.7602G>A (p.Gly2534=) c.7524G>A (p.Gly2508=) c.7500G>A (p.Gly2500=) c.7497G>A (p.Gly2499=) | dbSNP gnomAD v2 gnomAD v4 |
X | g.154349421C>A | CA415179791 | FLNA | c.7673G>T (p.Gly2558Val) c.7697G>T (p.Gly2566Val) c.7616G>T (p.Gly2539Val) c.4478G>T (p.Gly1493Val) c.7754G>T (n.7754G>T) c.280-731G>T c.7976G>T (n.7976G>T) n.3415G>T c.7577G>T (p.Gly2526Val) c.7653G>T (n.7653G>T) n.852G>T n.4926G>T n.68-591G>T n.738G>T c.6701G>T (p.Gly2234Val) c.7601G>T (p.Gly2534Val) c.7523G>T (p.Gly2508Val) c.7499G>T (p.Gly2500Val) c.7496G>T (p.Gly2499Val) | |
X | g.154349421C>G | CA415179792 | FLNA | c.7673G>C (p.Gly2558Ala) c.7697G>C (p.Gly2566Ala) c.7616G>C (p.Gly2539Ala) c.4478G>C (p.Gly1493Ala) c.7754G>C (n.7754G>C) c.280-731G>C c.7976G>C (n.7976G>C) n.3415G>C c.7577G>C (p.Gly2526Ala) c.7653G>C (n.7653G>C) n.852G>C n.4926G>C n.68-591G>C n.738G>C c.6701G>C (p.Gly2234Ala) c.7601G>C (p.Gly2534Ala) c.7523G>C (p.Gly2508Ala) c.7499G>C (p.Gly2500Ala) c.7496G>C (p.Gly2499Ala) | |
X | g.154349421C>T | CA415179793 | FLNA | c.7673G>A (p.Gly2558Glu) c.7697G>A (p.Gly2566Glu) c.7616G>A (p.Gly2539Glu) c.4478G>A (p.Gly1493Glu) c.7754G>A (n.7754G>A) c.280-731G>A c.7976G>A (n.7976G>A) n.3415G>A c.7577G>A (p.Gly2526Glu) c.7653G>A (n.7653G>A) n.852G>A n.4926G>A n.68-591G>A n.738G>A c.6701G>A (p.Gly2234Glu) c.7601G>A (p.Gly2534Glu) c.7523G>A (p.Gly2508Glu) c.7499G>A (p.Gly2500Glu) c.7496G>A (p.Gly2499Glu) | |
X | g.154349422C>A | CA415179796 | FLNA | c.7672G>T (p.Gly2558Trp) c.7696G>T (p.Gly2566Trp) c.7615G>T (p.Gly2539Trp) c.4477G>T (p.Gly1493Trp) c.7753G>T (n.7753G>T) c.280-732G>T c.7975G>T (n.7975G>T) n.3414G>T c.7576G>T (p.Gly2526Trp) c.7652G>T (n.7652G>T) n.851G>T n.4925G>T n.68-592G>T n.737G>T c.6700G>T (p.Gly2234Trp) c.7600G>T (p.Gly2534Trp) c.7522G>T (p.Gly2508Trp) c.7498G>T (p.Gly2500Trp) c.7495G>T (p.Gly2499Trp) | |
X | g.154349422C>G | CA415179809 | FLNA | c.7672G>C (p.Gly2558Arg) c.7696G>C (p.Gly2566Arg) c.7615G>C (p.Gly2539Arg) c.4477G>C (p.Gly1493Arg) c.7753G>C (n.7753G>C) c.280-732G>C c.7975G>C (n.7975G>C) n.3414G>C c.7576G>C (p.Gly2526Arg) c.7652G>C (n.7652G>C) n.851G>C n.4925G>C n.68-592G>C n.737G>C c.6700G>C (p.Gly2234Arg) c.7600G>C (p.Gly2534Arg) c.7522G>C (p.Gly2508Arg) c.7498G>C (p.Gly2500Arg) c.7495G>C (p.Gly2499Arg) | |
X | g.154349422C>T | CA415179814 | FLNA | c.7672G>A (p.Gly2558Arg) c.7696G>A (p.Gly2566Arg) c.7615G>A (p.Gly2539Arg) c.4477G>A (p.Gly1493Arg) c.7753G>A (n.7753G>A) c.280-732G>A c.7975G>A (n.7975G>A) n.3414G>A c.7576G>A (p.Gly2526Arg) c.7652G>A (n.7652G>A) n.851G>A n.4925G>A n.68-592G>A n.737G>A c.6700G>A (p.Gly2234Arg) c.7600G>A (p.Gly2534Arg) c.7522G>A (p.Gly2508Arg) c.7498G>A (p.Gly2500Arg) c.7495G>A (p.Gly2499Arg) | |
X | g.154349423C>A | CA519276306 | FLNA | c.7671G>T (p.Leu2557=) c.7695G>T (p.Leu2565=) c.7614G>T (p.Leu2538=) c.4476G>T (p.Leu1492=) c.7752G>T (n.7752G>T) c.280-733G>T c.7974G>T (n.7974G>T) n.3413G>T c.7575G>T (p.Leu2525=) c.7651G>T (n.7651G>T) n.850G>T n.4924G>T n.68-593G>T n.736G>T c.6699G>T (p.Leu2233=) c.7599G>T (p.Leu2533=) c.7521G>T (p.Leu2507=) c.7497G>T (p.Leu2499=) c.7494G>T (p.Leu2498=) | |
X | g.154349423C= | CA2466652042 | FLNA | c.7671G= (p.Leu2557=) c.7695G= (p.Leu2565=) c.7614G= (p.Leu2538=) c.4476G= (p.Leu1492=) c.7752G= (n.7752G=) c.280-733G= c.7974G= (n.7974G=) n.3413G= c.7575G= (p.Leu2525=) c.7651G= (n.7651G=) n.850G= n.4924G= n.68-593G= n.736G= c.6699G= (p.Leu2233=) c.7599G= (p.Leu2533=) c.7521G= (p.Leu2507=) c.7497G= (p.Leu2499=) c.7494G= (p.Leu2498=) | |
X | g.154349423C>G | CA519276307 | FLNA | c.7671G>C (p.Leu2557=) c.7695G>C (p.Leu2565=) c.7614G>C (p.Leu2538=) c.4476G>C (p.Leu1492=) c.7752G>C (n.7752G>C) c.280-733G>C c.7974G>C (n.7974G>C) n.3413G>C c.7575G>C (p.Leu2525=) c.7651G>C (n.7651G>C) n.850G>C n.4924G>C n.68-593G>C n.736G>C c.6699G>C (p.Leu2233=) c.7599G>C (p.Leu2533=) c.7521G>C (p.Leu2507=) c.7497G>C (p.Leu2499=) c.7494G>C (p.Leu2498=) | |
X | g.154349423C>T | CA16608318 | FLNA | c.7671G>A (p.Leu2557=) c.7695G>A (p.Leu2565=) c.7614G>A (p.Leu2538=) c.4476G>A (p.Leu1492=) c.7752G>A (n.7752G>A) c.280-733G>A c.7974G>A (n.7974G>A) n.3413G>A c.7575G>A (p.Leu2525=) c.7651G>A (n.7651G>A) n.850G>A n.4924G>A n.68-593G>A n.736G>A c.6699G>A (p.Leu2233=) c.7599G>A (p.Leu2533=) c.7521G>A (p.Leu2507=) c.7497G>A (p.Leu2499=) c.7494G>A (p.Leu2498=) | ClinVar dbSNP |
X | g.154349424A>C | CA415179818 | FLNA | c.7670T>G (p.Leu2557Arg) c.7694T>G (p.Leu2565Arg) c.7613T>G (p.Leu2538Arg) c.4475T>G (p.Leu1492Arg) c.7751T>G (n.7751T>G) c.280-734T>G c.7973T>G (n.7973T>G) n.3412T>G c.7574T>G (p.Leu2525Arg) c.7650T>G (n.7650T>G) n.849T>G n.4923T>G n.68-594T>G n.735T>G c.6698T>G (p.Leu2233Arg) c.7598T>G (p.Leu2533Arg) c.7520T>G (p.Leu2507Arg) c.7496T>G (p.Leu2499Arg) c.7493T>G (p.Leu2498Arg) | |
X | g.154349424A>G | CA415179826 | FLNA | c.7670T>C (p.Leu2557Pro) c.7694T>C (p.Leu2565Pro) c.7613T>C (p.Leu2538Pro) c.4475T>C (p.Leu1492Pro) c.7751T>C (n.7751T>C) c.280-734T>C c.7973T>C (n.7973T>C) n.3412T>C c.7574T>C (p.Leu2525Pro) c.7650T>C (n.7650T>C) n.849T>C n.4923T>C n.68-594T>C n.735T>C c.6698T>C (p.Leu2233Pro) c.7598T>C (p.Leu2533Pro) c.7520T>C (p.Leu2507Pro) c.7496T>C (p.Leu2499Pro) c.7493T>C (p.Leu2498Pro) | |
X | g.154349424A>T | CA415179822 | FLNA | c.7670T>A (p.Leu2557Gln) c.7694T>A (p.Leu2565Gln) c.7613T>A (p.Leu2538Gln) c.4475T>A (p.Leu1492Gln) c.7751T>A (n.7751T>A) c.280-734T>A c.7973T>A (n.7973T>A) n.3412T>A c.7574T>A (p.Leu2525Gln) c.7650T>A (n.7650T>A) n.849T>A n.4923T>A n.68-594T>A n.735T>A c.6698T>A (p.Leu2233Gln) c.7598T>A (p.Leu2533Gln) c.7520T>A (p.Leu2507Gln) c.7496T>A (p.Leu2499Gln) c.7493T>A (p.Leu2498Gln) | |
X | g.154349425G>A | CA519276308 | FLNA | c.7669C>T (p.Leu2557=) c.7693C>T (p.Leu2565=) c.7612C>T (p.Leu2538=) c.4474C>T (p.Leu1492=) c.7750C>T (n.7750C>T) c.280-735C>T c.7972C>T (n.7972C>T) n.3411C>T c.7573C>T (p.Leu2525=) c.7649C>T (n.7649C>T) n.848C>T n.4922C>T n.68-595C>T n.734C>T c.6697C>T (p.Leu2233=) c.7597C>T (p.Leu2533=) c.7519C>T (p.Leu2507=) c.7495C>T (p.Leu2499=) c.7492C>T (p.Leu2498=) | |
X | g.154349425G>C | CA415179832 | FLNA | c.7669C>G (p.Leu2557Val) c.7693C>G (p.Leu2565Val) c.7612C>G (p.Leu2538Val) c.4474C>G (p.Leu1492Val) c.7750C>G (n.7750C>G) c.280-735C>G c.7972C>G (n.7972C>G) n.3411C>G c.7573C>G (p.Leu2525Val) c.7649C>G (n.7649C>G) n.848C>G n.4922C>G n.68-595C>G n.734C>G c.6697C>G (p.Leu2233Val) c.7597C>G (p.Leu2533Val) c.7519C>G (p.Leu2507Val) c.7495C>G (p.Leu2499Val) c.7492C>G (p.Leu2498Val) | |
X | g.154349425G>T | CA415179833 | FLNA | c.7669C>A (p.Leu2557Met) c.7693C>A (p.Leu2565Met) c.7612C>A (p.Leu2538Met) c.4474C>A (p.Leu1492Met) c.7750C>A (n.7750C>A) c.280-735C>A c.7972C>A (n.7972C>A) n.3411C>A c.7573C>A (p.Leu2525Met) c.7649C>A (n.7649C>A) n.848C>A n.4922C>A n.68-595C>A n.734C>A c.6697C>A (p.Leu2233Met) c.7597C>A (p.Leu2533Met) c.7519C>A (p.Leu2507Met) c.7495C>A (p.Leu2499Met) c.7492C>A (p.Leu2498Met) | |
X | g.154349426G>A | CA519276311 | FLNA | c.7668C>T (p.Gly2556=) c.7692C>T (p.Gly2564=) c.7611C>T (p.Gly2537=) c.4473C>T (p.Gly1491=) c.7749C>T (n.7749C>T) c.280-736C>T c.7971C>T (n.7971C>T) n.3410C>T c.7572C>T (p.Gly2524=) c.7648C>T (n.7648C>T) n.847C>T n.4921C>T n.68-596C>T n.733C>T c.6696C>T (p.Gly2232=) c.7596C>T (p.Gly2532=) c.7518C>T (p.Gly2506=) c.7494C>T (p.Gly2498=) c.7491C>T (p.Gly2497=) | dbSNP gnomAD v4 |
X | g.154349426G>C | CA519276310 | FLNA | c.7668C>G (p.Gly2556=) c.7692C>G (p.Gly2564=) c.7611C>G (p.Gly2537=) c.4473C>G (p.Gly1491=) c.7749C>G (n.7749C>G) c.280-736C>G c.7971C>G (n.7971C>G) n.3410C>G c.7572C>G (p.Gly2524=) c.7648C>G (n.7648C>G) n.847C>G n.4921C>G n.68-596C>G n.733C>G c.6696C>G (p.Gly2232=) c.7596C>G (p.Gly2532=) c.7518C>G (p.Gly2506=) c.7494C>G (p.Gly2498=) c.7491C>G (p.Gly2497=) | |
X | g.154349426G= | CA2466652043 | FLNA | c.7668C= (p.Gly2556=) c.7692C= (p.Gly2564=) c.7611C= (p.Gly2537=) c.4473C= (p.Gly1491=) c.7749C= (n.7749C=) c.280-736C= c.7971C= (n.7971C=) n.3410C= c.7572C= (p.Gly2524=) c.7648C= (n.7648C=) n.847C= n.4921C= n.68-596C= n.733C= c.6696C= (p.Gly2232=) c.7596C= (p.Gly2532=) c.7518C= (p.Gly2506=) c.7494C= (p.Gly2498=) c.7491C= (p.Gly2497=) | |
X | g.154349426G>T | CA519276309 | FLNA | c.7668C>A (p.Gly2556=) c.7692C>A (p.Gly2564=) c.7611C>A (p.Gly2537=) c.4473C>A (p.Gly1491=) c.7749C>A (n.7749C>A) c.280-736C>A c.7971C>A (n.7971C>A) n.3410C>A c.7572C>A (p.Gly2524=) c.7648C>A (n.7648C>A) n.847C>A n.4921C>A n.68-596C>A n.733C>A c.6696C>A (p.Gly2232=) c.7596C>A (p.Gly2532=) c.7518C>A (p.Gly2506=) c.7494C>A (p.Gly2498=) c.7491C>A (p.Gly2497=) | |
X | g.154349427C>A | CA415179837 | FLNA | c.7667G>T (p.Gly2556Val) c.7691G>T (p.Gly2564Val) c.7610G>T (p.Gly2537Val) c.4472G>T (p.Gly1491Val) c.7748G>T (n.7748G>T) c.280-737G>T c.7970G>T (n.7970G>T) n.3409G>T c.7571G>T (p.Gly2524Val) c.7647G>T (n.7647G>T) n.846G>T n.4920G>T n.68-597G>T n.732G>T c.6695G>T (p.Gly2232Val) c.7595G>T (p.Gly2532Val) c.7517G>T (p.Gly2506Val) c.7493G>T (p.Gly2498Val) c.7490G>T (p.Gly2497Val) | |
X | g.154349427C>G | CA415179840 | FLNA | c.7667G>C (p.Gly2556Ala) c.7691G>C (p.Gly2564Ala) c.7610G>C (p.Gly2537Ala) c.4472G>C (p.Gly1491Ala) c.7748G>C (n.7748G>C) c.280-737G>C c.7970G>C (n.7970G>C) n.3409G>C c.7571G>C (p.Gly2524Ala) c.7647G>C (n.7647G>C) n.846G>C n.4920G>C n.68-597G>C n.732G>C c.6695G>C (p.Gly2232Ala) c.7595G>C (p.Gly2532Ala) c.7517G>C (p.Gly2506Ala) c.7493G>C (p.Gly2498Ala) c.7490G>C (p.Gly2497Ala) | |
X | g.154349427C>T | CA415179843 | FLNA | c.7667G>A (p.Gly2556Asp) c.7691G>A (p.Gly2564Asp) c.7610G>A (p.Gly2537Asp) c.4472G>A (p.Gly1491Asp) c.7748G>A (n.7748G>A) c.280-737G>A c.7970G>A (n.7970G>A) n.3409G>A c.7571G>A (p.Gly2524Asp) c.7647G>A (n.7647G>A) n.846G>A n.4920G>A n.68-597G>A n.732G>A c.6695G>A (p.Gly2232Asp) c.7595G>A (p.Gly2532Asp) c.7517G>A (p.Gly2506Asp) c.7493G>A (p.Gly2498Asp) c.7490G>A (p.Gly2497Asp) | |
X | g.154349428C>A | CA415179862 | FLNA | c.7666G>T (p.Gly2556Cys) c.7690G>T (p.Gly2564Cys) c.7609G>T (p.Gly2537Cys) c.4471G>T (p.Gly1491Cys) c.7747G>T (n.7747G>T) c.280-738G>T c.7969G>T (n.7969G>T) n.3408G>T c.7570G>T (p.Gly2524Cys) c.7646G>T (n.7646G>T) n.845G>T n.4919G>T n.68-598G>T n.731G>T c.6694G>T (p.Gly2232Cys) c.7594G>T (p.Gly2532Cys) c.7516G>T (p.Gly2506Cys) c.7492G>T (p.Gly2498Cys) c.7489G>T (p.Gly2497Cys) | |
X | g.154349428C>G | CA415179865 | FLNA | c.7666G>C (p.Gly2556Arg) c.7690G>C (p.Gly2564Arg) c.7609G>C (p.Gly2537Arg) c.4471G>C (p.Gly1491Arg) c.7747G>C (n.7747G>C) c.280-738G>C c.7969G>C (n.7969G>C) n.3408G>C c.7570G>C (p.Gly2524Arg) c.7646G>C (n.7646G>C) n.845G>C n.4919G>C n.68-598G>C n.731G>C c.6694G>C (p.Gly2232Arg) c.7594G>C (p.Gly2532Arg) c.7516G>C (p.Gly2506Arg) c.7492G>C (p.Gly2498Arg) c.7489G>C (p.Gly2497Arg) | |
X | g.154349428C>T | CA415179870 | FLNA | c.7666G>A (p.Gly2556Ser) c.7690G>A (p.Gly2564Ser) c.7609G>A (p.Gly2537Ser) c.4471G>A (p.Gly1491Ser) c.7747G>A (n.7747G>A) c.280-738G>A c.7969G>A (n.7969G>A) n.3408G>A c.7570G>A (p.Gly2524Ser) c.7646G>A (n.7646G>A) n.845G>A n.4919G>A n.68-598G>A n.731G>A c.6694G>A (p.Gly2232Ser) c.7594G>A (p.Gly2532Ser) c.7516G>A (p.Gly2506Ser) c.7492G>A (p.Gly2498Ser) c.7489G>A (p.Gly2497Ser) | |
X | g.154349429C>A | CA415179876 | FLNA | c.7665G>T (p.Lys2555Asn) c.7689G>T (p.Lys2563Asn) c.7608G>T (p.Lys2536Asn) c.4470G>T (p.Lys1490Asn) c.7746G>T (n.7746G>T) c.280-739G>T c.7968G>T (n.7968G>T) n.3407G>T c.7569G>T (p.Lys2523Asn) c.7645G>T (n.7645G>T) n.844G>T n.4918G>T n.68-599G>T n.730G>T c.6693G>T (p.Lys2231Asn) c.7593G>T (p.Lys2531Asn) c.7515G>T (p.Lys2505Asn) c.7491G>T (p.Lys2497Asn) c.7488G>T (p.Lys2496Asn) | |
X | g.154349429C>G | CA415179879 | FLNA | c.7665G>C (p.Lys2555Asn) c.7689G>C (p.Lys2563Asn) c.7608G>C (p.Lys2536Asn) c.4470G>C (p.Lys1490Asn) c.7746G>C (n.7746G>C) c.280-739G>C c.7968G>C (n.7968G>C) n.3407G>C c.7569G>C (p.Lys2523Asn) c.7645G>C (n.7645G>C) n.844G>C n.4918G>C n.68-599G>C n.730G>C c.6693G>C (p.Lys2231Asn) c.7593G>C (p.Lys2531Asn) c.7515G>C (p.Lys2505Asn) c.7491G>C (p.Lys2497Asn) c.7488G>C (p.Lys2496Asn) | |
X | g.154349429C>T | CA519276312 | FLNA | c.7665G>A (p.Lys2555=) c.7689G>A (p.Lys2563=) c.7608G>A (p.Lys2536=) c.4470G>A (p.Lys1490=) c.7746G>A (n.7746G>A) c.280-739G>A c.7968G>A (n.7968G>A) n.3407G>A c.7569G>A (p.Lys2523=) c.7645G>A (n.7645G>A) n.844G>A n.4918G>A n.68-599G>A n.730G>A c.6693G>A (p.Lys2231=) c.7593G>A (p.Lys2531=) c.7515G>A (p.Lys2505=) c.7491G>A (p.Lys2497=) c.7488G>A (p.Lys2496=) | |
X | g.154349430T>A | CA415179884 | FLNA | c.7664A>T (p.Lys2555Met) c.7688A>T (p.Lys2563Met) c.7607A>T (p.Lys2536Met) c.4469A>T (p.Lys1490Met) c.7745A>T (n.7745A>T) c.280-740A>T c.7967A>T (n.7967A>T) n.3406A>T c.7568A>T (p.Lys2523Met) c.7644A>T (n.7644A>T) n.843A>T n.4917A>T n.68-600A>T n.729A>T c.6692A>T (p.Lys2231Met) c.7592A>T (p.Lys2531Met) c.7514A>T (p.Lys2505Met) c.7490A>T (p.Lys2497Met) c.7487A>T (p.Lys2496Met) | gnomAD v4 |
X | g.154349430T>C | CA415179890 | FLNA | c.7664A>G (p.Lys2555Arg) c.7688A>G (p.Lys2563Arg) c.7607A>G (p.Lys2536Arg) c.4469A>G (p.Lys1490Arg) c.7745A>G (n.7745A>G) c.280-740A>G c.7967A>G (n.7967A>G) n.3406A>G c.7568A>G (p.Lys2523Arg) c.7644A>G (n.7644A>G) n.843A>G n.4917A>G n.68-600A>G n.729A>G c.6692A>G (p.Lys2231Arg) c.7592A>G (p.Lys2531Arg) c.7514A>G (p.Lys2505Arg) c.7490A>G (p.Lys2497Arg) c.7487A>G (p.Lys2496Arg) | dbSNP |
X | g.154349430T>G | CA415179887 | FLNA | c.7664A>C (p.Lys2555Thr) c.7688A>C (p.Lys2563Thr) c.7607A>C (p.Lys2536Thr) c.4469A>C (p.Lys1490Thr) c.7745A>C (n.7745A>C) c.280-740A>C c.7967A>C (n.7967A>C) n.3406A>C c.7568A>C (p.Lys2523Thr) c.7644A>C (n.7644A>C) n.843A>C n.4917A>C n.68-600A>C n.729A>C c.6692A>C (p.Lys2231Thr) c.7592A>C (p.Lys2531Thr) c.7514A>C (p.Lys2505Thr) c.7490A>C (p.Lys2497Thr) c.7487A>C (p.Lys2496Thr) | |
X | g.154349431T>A | CA415179892 | FLNA | c.7663A>T (p.Lys2555Ter) c.7687A>T (p.Lys2563Ter) c.7606A>T (p.Lys2536Ter) c.4468A>T (p.Lys1490Ter) c.7744A>T (n.7744A>T) c.280-741A>T c.7966A>T (n.7966A>T) n.3405A>T c.7567A>T (p.Lys2523Ter) c.7643A>T (n.7643A>T) n.842A>T n.4916A>T n.68-601A>T n.728A>T c.6691A>T (p.Lys2231Ter) c.7591A>T (p.Lys2531Ter) c.7513A>T (p.Lys2505Ter) c.7489A>T (p.Lys2497Ter) c.7486A>T (p.Lys2496Ter) | |
X | g.154349431T>C | CA415179894 | FLNA | c.7663A>G (p.Lys2555Glu) c.7687A>G (p.Lys2563Glu) c.7606A>G (p.Lys2536Glu) c.4468A>G (p.Lys1490Glu) c.7744A>G (n.7744A>G) c.280-741A>G c.7966A>G (n.7966A>G) n.3405A>G c.7567A>G (p.Lys2523Glu) c.7643A>G (n.7643A>G) n.842A>G n.4916A>G n.68-601A>G n.728A>G c.6691A>G (p.Lys2231Glu) c.7591A>G (p.Lys2531Glu) c.7513A>G (p.Lys2505Glu) c.7489A>G (p.Lys2497Glu) c.7486A>G (p.Lys2496Glu) | |
X | g.154349431T>G | CA415179897 | FLNA | c.7663A>C (p.Lys2555Gln) c.7687A>C (p.Lys2563Gln) c.7606A>C (p.Lys2536Gln) c.4468A>C (p.Lys1490Gln) c.7744A>C (n.7744A>C) c.280-741A>C c.7966A>C (n.7966A>C) n.3405A>C c.7567A>C (p.Lys2523Gln) c.7643A>C (n.7643A>C) n.842A>C n.4916A>C n.68-601A>C n.728A>C c.6691A>C (p.Lys2231Gln) c.7591A>C (p.Lys2531Gln) c.7513A>C (p.Lys2505Gln) c.7489A>C (p.Lys2497Gln) c.7486A>C (p.Lys2496Gln) | |
X | g.154349432G>A | CA303002 | FLNA | c.7662C>T (p.Ala2554=) c.7686C>T (p.Ala2562=) c.7605C>T (p.Ala2535=) c.4467C>T (p.Ala1489=) c.7743C>T (n.7743C>T) c.280-742C>T c.7965C>T (n.7965C>T) n.3404C>T c.7566C>T (p.Ala2522=) c.7642C>T (n.7642C>T) n.841C>T n.4915C>T n.68-602C>T n.727C>T c.6690C>T (p.Ala2230=) c.7590C>T (p.Ala2530=) c.7512C>T (p.Ala2504=) c.7488C>T (p.Ala2496=) c.7485C>T (p.Ala2495=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.154349432G>C | CA519276313 | FLNA | c.7662C>G (p.Ala2554=) c.7686C>G (p.Ala2562=) c.7605C>G (p.Ala2535=) c.4467C>G (p.Ala1489=) c.7743C>G (n.7743C>G) c.280-742C>G c.7965C>G (n.7965C>G) n.3404C>G c.7566C>G (p.Ala2522=) c.7642C>G (n.7642C>G) n.841C>G n.4915C>G n.68-602C>G n.727C>G c.6690C>G (p.Ala2230=) c.7590C>G (p.Ala2530=) c.7512C>G (p.Ala2504=) c.7488C>G (p.Ala2496=) c.7485C>G (p.Ala2495=) | dbSNP gnomAD v2 gnomAD v4 |
X | g.154349432G= | CA2466652044 | FLNA | c.7662C= (p.Ala2554=) c.7686C= (p.Ala2562=) c.7605C= (p.Ala2535=) c.4467C= (p.Ala1489=) c.7743C= (n.7743C=) c.280-742C= c.7965C= (n.7965C=) n.3404C= c.7566C= (p.Ala2522=) c.7642C= (n.7642C=) n.841C= n.4915C= n.68-602C= n.727C= c.6690C= (p.Ala2230=) c.7590C= (p.Ala2530=) c.7512C= (p.Ala2504=) c.7488C= (p.Ala2496=) c.7485C= (p.Ala2495=) | |
X | g.154349432G>T | CA519276314 | FLNA | c.7662C>A (p.Ala2554=) c.7686C>A (p.Ala2562=) c.7605C>A (p.Ala2535=) c.4467C>A (p.Ala1489=) c.7743C>A (n.7743C>A) c.280-742C>A c.7965C>A (n.7965C>A) n.3404C>A c.7566C>A (p.Ala2522=) c.7642C>A (n.7642C>A) n.841C>A n.4915C>A n.68-602C>A n.727C>A c.6690C>A (p.Ala2230=) c.7590C>A (p.Ala2530=) c.7512C>A (p.Ala2504=) c.7488C>A (p.Ala2496=) c.7485C>A (p.Ala2495=) | gnomAD v4 |
X | g.154349433G>A | CA415179906 | FLNA | c.7661C>T (p.Ala2554Val) c.7685C>T (p.Ala2562Val) c.7604C>T (p.Ala2535Val) c.4466C>T (p.Ala1489Val) c.7742C>T (n.7742C>T) c.280-743C>T c.7964C>T (n.7964C>T) n.3403C>T c.7565C>T (p.Ala2522Val) c.7641C>T (n.7641C>T) n.840C>T n.4914C>T n.68-603C>T n.726C>T c.6689C>T (p.Ala2230Val) c.7589C>T (p.Ala2530Val) c.7511C>T (p.Ala2504Val) c.7487C>T (p.Ala2496Val) c.7484C>T (p.Ala2495Val) | |
X | g.154349433G>C | CA415179908 | FLNA | c.7661C>G (p.Ala2554Gly) c.7685C>G (p.Ala2562Gly) c.7604C>G (p.Ala2535Gly) c.4466C>G (p.Ala1489Gly) c.7742C>G (n.7742C>G) c.280-743C>G c.7964C>G (n.7964C>G) n.3403C>G c.7565C>G (p.Ala2522Gly) c.7641C>G (n.7641C>G) n.840C>G n.4914C>G n.68-603C>G n.726C>G c.6689C>G (p.Ala2230Gly) c.7589C>G (p.Ala2530Gly) c.7511C>G (p.Ala2504Gly) c.7487C>G (p.Ala2496Gly) c.7484C>G (p.Ala2495Gly) | |
X | g.154349433G>T | CA415179912 | FLNA | c.7661C>A (p.Ala2554Asp) c.7685C>A (p.Ala2562Asp) c.7604C>A (p.Ala2535Asp) c.4466C>A (p.Ala1489Asp) c.7742C>A (n.7742C>A) c.280-743C>A c.7964C>A (n.7964C>A) n.3403C>A c.7565C>A (p.Ala2522Asp) c.7641C>A (n.7641C>A) n.840C>A n.4914C>A n.68-603C>A n.726C>A c.6689C>A (p.Ala2230Asp) c.7589C>A (p.Ala2530Asp) c.7511C>A (p.Ala2504Asp) c.7487C>A (p.Ala2496Asp) c.7484C>A (p.Ala2495Asp) | |
X | g.154349434C>A | CA415179918 | FLNA | c.7660G>T (p.Ala2554Ser) c.7684G>T (p.Ala2562Ser) c.7603G>T (p.Ala2535Ser) c.4465G>T (p.Ala1489Ser) c.7741G>T (n.7741G>T) c.280-744G>T c.7963G>T (n.7963G>T) n.3402G>T c.7564G>T (p.Ala2522Ser) c.7640G>T (n.7640G>T) n.839G>T n.4913G>T n.68-604G>T n.725G>T c.6688G>T (p.Ala2230Ser) c.7588G>T (p.Ala2530Ser) c.7510G>T (p.Ala2504Ser) c.7486G>T (p.Ala2496Ser) c.7483G>T (p.Ala2495Ser) | |
X | g.154349434C>G | CA415179941 | FLNA | c.7660G>C (p.Ala2554Pro) c.7684G>C (p.Ala2562Pro) c.7603G>C (p.Ala2535Pro) c.4465G>C (p.Ala1489Pro) c.7741G>C (n.7741G>C) c.280-744G>C c.7963G>C (n.7963G>C) n.3402G>C c.7564G>C (p.Ala2522Pro) c.7640G>C (n.7640G>C) n.839G>C n.4913G>C n.68-604G>C n.725G>C c.6688G>C (p.Ala2230Pro) c.7588G>C (p.Ala2530Pro) c.7510G>C (p.Ala2504Pro) c.7486G>C (p.Ala2496Pro) c.7483G>C (p.Ala2495Pro) | |
X | g.154349434C>T | CA415179942 | FLNA | c.7660G>A (p.Ala2554Thr) c.7684G>A (p.Ala2562Thr) c.7603G>A (p.Ala2535Thr) c.4465G>A (p.Ala1489Thr) c.7741G>A (n.7741G>A) c.280-744G>A c.7963G>A (n.7963G>A) n.3402G>A c.7564G>A (p.Ala2522Thr) c.7640G>A (n.7640G>A) n.839G>A n.4913G>A n.68-604G>A n.725G>A c.6688G>A (p.Ala2230Thr) c.7588G>A (p.Ala2530Thr) c.7510G>A (p.Ala2504Thr) c.7486G>A (p.Ala2496Thr) c.7483G>A (p.Ala2495Thr) | |
X | g.154349435C>A | CA519276315 | FLNA | c.7659G>T (p.Val2553=) c.7683G>T (p.Val2561=) c.7602G>T (p.Val2534=) c.4464G>T (p.Val1488=) c.7740G>T (n.7740G>T) c.280-745G>T c.7962G>T (n.7962G>T) n.3401G>T c.7563G>T (p.Val2521=) c.7639G>T (n.7639G>T) n.838G>T n.4912G>T n.68-605G>T n.724G>T c.6687G>T (p.Val2229=) c.7587G>T (p.Val2529=) c.7509G>T (p.Val2503=) c.7485G>T (p.Val2495=) c.7482G>T (p.Val2494=) | gnomAD v4 |
X | g.154349435C= | CA2466652045 | FLNA | c.7659G= (p.Val2553=) c.7683G= (p.Val2561=) c.7602G= (p.Val2534=) c.4464G= (p.Val1488=) c.7740G= (n.7740G=) c.280-745G= c.7962G= (n.7962G=) n.3401G= c.7563G= (p.Val2521=) c.7639G= (n.7639G=) n.838G= n.4912G= n.68-605G= n.724G= c.6687G= (p.Val2229=) c.7587G= (p.Val2529=) c.7509G= (p.Val2503=) c.7485G= (p.Val2495=) c.7482G= (p.Val2494=) | |
X | g.154349435C>G | CA519276316 | FLNA | c.7659G>C (p.Val2553=) c.7683G>C (p.Val2561=) c.7602G>C (p.Val2534=) c.4464G>C (p.Val1488=) c.7740G>C (n.7740G>C) c.280-745G>C c.7962G>C (n.7962G>C) n.3401G>C c.7563G>C (p.Val2521=) c.7639G>C (n.7639G>C) n.838G>C n.4912G>C n.68-605G>C n.724G>C c.6687G>C (p.Val2229=) c.7587G>C (p.Val2529=) c.7509G>C (p.Val2503=) c.7485G>C (p.Val2495=) c.7482G>C (p.Val2494=) | |
X | g.154349435C>T | CA10559855 | FLNA | c.7659G>A (p.Val2553=) c.7683G>A (p.Val2561=) c.7602G>A (p.Val2534=) c.4464G>A (p.Val1488=) c.7740G>A (n.7740G>A) c.280-745G>A c.7962G>A (n.7962G>A) n.3401G>A c.7563G>A (p.Val2521=) c.7639G>A (n.7639G>A) n.838G>A n.4912G>A n.68-605G>A n.724G>A c.6687G>A (p.Val2229=) c.7587G>A (p.Val2529=) c.7509G>A (p.Val2503=) c.7485G>A (p.Val2495=) c.7482G>A (p.Val2494=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.154349436A>C | CA415179962 | FLNA | c.7658T>G (p.Val2553Gly) c.7682T>G (p.Val2561Gly) c.7601T>G (p.Val2534Gly) c.4463T>G (p.Val1488Gly) c.7739T>G (n.7739T>G) c.280-746T>G c.7961T>G (n.7961T>G) n.3400T>G c.7562T>G (p.Val2521Gly) c.7638T>G (n.7638T>G) n.837T>G n.4911T>G n.68-606T>G n.723T>G c.6686T>G (p.Val2229Gly) c.7586T>G (p.Val2529Gly) c.7508T>G (p.Val2503Gly) c.7484T>G (p.Val2495Gly) c.7481T>G (p.Val2494Gly) | |
X | g.154349436A>G | CA415179951 | FLNA | c.7658T>C (p.Val2553Ala) c.7682T>C (p.Val2561Ala) c.7601T>C (p.Val2534Ala) c.4463T>C (p.Val1488Ala) c.7739T>C (n.7739T>C) c.280-746T>C c.7961T>C (n.7961T>C) n.3400T>C c.7562T>C (p.Val2521Ala) c.7638T>C (n.7638T>C) n.837T>C n.4911T>C n.68-606T>C n.723T>C c.6686T>C (p.Val2229Ala) c.7586T>C (p.Val2529Ala) c.7508T>C (p.Val2503Ala) c.7484T>C (p.Val2495Ala) c.7481T>C (p.Val2494Ala) | |
X | g.154349436A>T | CA415179956 | FLNA | c.7658T>A (p.Val2553Glu) c.7682T>A (p.Val2561Glu) c.7601T>A (p.Val2534Glu) c.4463T>A (p.Val1488Glu) c.7739T>A (n.7739T>A) c.280-746T>A c.7961T>A (n.7961T>A) n.3400T>A c.7562T>A (p.Val2521Glu) c.7638T>A (n.7638T>A) n.837T>A n.4911T>A n.68-606T>A n.723T>A c.6686T>A (p.Val2229Glu) c.7586T>A (p.Val2529Glu) c.7508T>A (p.Val2503Glu) c.7484T>A (p.Val2495Glu) c.7481T>A (p.Val2494Glu) | |
X | g.154349437C>A | CA415179980 | FLNA | c.7657G>T (p.Val2553Leu) c.7681G>T (p.Val2561Leu) c.7600G>T (p.Val2534Leu) c.4462G>T (p.Val1488Leu) c.7738G>T (n.7738G>T) c.280-747G>T c.7960G>T (n.7960G>T) n.3399G>T c.7561G>T (p.Val2521Leu) c.7637G>T (n.7637G>T) n.836G>T n.4910G>T n.68-607G>T n.722G>T c.6685G>T (p.Val2229Leu) c.7585G>T (p.Val2529Leu) c.7507G>T (p.Val2503Leu) c.7483G>T (p.Val2495Leu) c.7480G>T (p.Val2494Leu) | |
X | g.154349437C>G | CA415179984 | FLNA | c.7657G>C (p.Val2553Leu) c.7681G>C (p.Val2561Leu) c.7600G>C (p.Val2534Leu) c.4462G>C (p.Val1488Leu) c.7738G>C (n.7738G>C) c.280-747G>C c.7960G>C (n.7960G>C) n.3399G>C c.7561G>C (p.Val2521Leu) c.7637G>C (n.7637G>C) n.836G>C n.4910G>C n.68-607G>C n.722G>C c.6685G>C (p.Val2229Leu) c.7585G>C (p.Val2529Leu) c.7507G>C (p.Val2503Leu) c.7483G>C (p.Val2495Leu) c.7480G>C (p.Val2494Leu) | |
X | g.154349437C>T | CA415179988 | FLNA | c.7657G>A (p.Val2553Met) c.7681G>A (p.Val2561Met) c.7600G>A (p.Val2534Met) c.4462G>A (p.Val1488Met) c.7738G>A (n.7738G>A) c.280-747G>A c.7960G>A (n.7960G>A) n.3399G>A c.7561G>A (p.Val2521Met) c.7637G>A (n.7637G>A) n.836G>A n.4910G>A n.68-607G>A n.722G>A c.6685G>A (p.Val2229Met) c.7585G>A (p.Val2529Met) c.7507G>A (p.Val2503Met) c.7483G>A (p.Val2495Met) c.7480G>A (p.Val2494Met) | |
X | g.154349438C>A | CA519276317 | FLNA | c.7656G>T (p.Val2552=) c.7680G>T (p.Val2560=) c.7599G>T (p.Val2533=) c.4461G>T (p.Val1487=) c.7737G>T (n.7737G>T) c.280-748G>T c.7959G>T (n.7959G>T) n.3398G>T c.7560G>T (p.Val2520=) c.7636G>T (n.7636G>T) n.835G>T n.4909G>T n.68-608G>T n.721G>T c.6684G>T (p.Val2228=) c.7584G>T (p.Val2528=) c.7506G>T (p.Val2502=) c.7482G>T (p.Val2494=) c.7479G>T (p.Val2493=) | |
X | g.154349438C>G | CA519276318 | FLNA | c.7656G>C (p.Val2552=) c.7680G>C (p.Val2560=) c.7599G>C (p.Val2533=) c.4461G>C (p.Val1487=) c.7737G>C (n.7737G>C) c.280-748G>C c.7959G>C (n.7959G>C) n.3398G>C c.7560G>C (p.Val2520=) c.7636G>C (n.7636G>C) n.835G>C n.4909G>C n.68-608G>C n.721G>C c.6684G>C (p.Val2228=) c.7584G>C (p.Val2528=) c.7506G>C (p.Val2502=) c.7482G>C (p.Val2494=) c.7479G>C (p.Val2493=) | |
X | g.154349438C>T | CA519276319 | FLNA | c.7656G>A (p.Val2552=) c.7680G>A (p.Val2560=) c.7599G>A (p.Val2533=) c.4461G>A (p.Val1487=) c.7737G>A (n.7737G>A) c.280-748G>A c.7959G>A (n.7959G>A) n.3398G>A c.7560G>A (p.Val2520=) c.7636G>A (n.7636G>A) n.835G>A n.4909G>A n.68-608G>A n.721G>A c.6684G>A (p.Val2228=) c.7584G>A (p.Val2528=) c.7506G>A (p.Val2502=) c.7482G>A (p.Val2494=) c.7479G>A (p.Val2493=) | |
X | g.154349439A= | CA2466652046 | FLNA | c.7655T= (p.Val2552=) c.7679T= (p.Val2560=) c.7598T= (p.Val2533=) c.4460T= (p.Val1487=) c.7736T= (n.7736T=) c.280-749T= c.7958T= (n.7958T=) n.3397T= c.7559T= (p.Val2520=) c.7635T= (n.7635T=) n.834T= n.4908T= n.68-609T= n.720T= c.6683T= (p.Val2228=) c.7583T= (p.Val2528=) c.7505T= (p.Val2502=) c.7481T= (p.Val2494=) c.7478T= (p.Val2493=) | |
X | g.154349439A>C | CA415179993 | FLNA | c.7655T>G (p.Val2552Gly) c.7679T>G (p.Val2560Gly) c.7598T>G (p.Val2533Gly) c.4460T>G (p.Val1487Gly) c.7736T>G (n.7736T>G) c.280-749T>G c.7958T>G (n.7958T>G) n.3397T>G c.7559T>G (p.Val2520Gly) c.7635T>G (n.7635T>G) n.834T>G n.4908T>G n.68-609T>G n.720T>G c.6683T>G (p.Val2228Gly) c.7583T>G (p.Val2528Gly) c.7505T>G (p.Val2502Gly) c.7481T>G (p.Val2494Gly) c.7478T>G (p.Val2493Gly) | |
X | g.154349439A>G | CA415179997 | FLNA | c.7655T>C (p.Val2552Ala) c.7679T>C (p.Val2560Ala) c.7598T>C (p.Val2533Ala) c.4460T>C (p.Val1487Ala) c.7736T>C (n.7736T>C) c.280-749T>C c.7958T>C (n.7958T>C) n.3397T>C c.7559T>C (p.Val2520Ala) c.7635T>C (n.7635T>C) n.834T>C n.4908T>C n.68-609T>C n.720T>C c.6683T>C (p.Val2228Ala) c.7583T>C (p.Val2528Ala) c.7505T>C (p.Val2502Ala) c.7481T>C (p.Val2494Ala) c.7478T>C (p.Val2493Ala) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.154349439A>T | CA415180003 | FLNA | c.7655T>A (p.Val2552Glu) c.7679T>A (p.Val2560Glu) c.7598T>A (p.Val2533Glu) c.4460T>A (p.Val1487Glu) c.7736T>A (n.7736T>A) c.280-749T>A c.7958T>A (n.7958T>A) n.3397T>A c.7559T>A (p.Val2520Glu) c.7635T>A (n.7635T>A) n.834T>A n.4908T>A n.68-609T>A n.720T>A c.6683T>A (p.Val2228Glu) c.7583T>A (p.Val2528Glu) c.7505T>A (p.Val2502Glu) c.7481T>A (p.Val2494Glu) c.7478T>A (p.Val2493Glu) | |
X | g.154349440C>A | CA415180007 | FLNA | c.7654G>T (p.Val2552Leu) c.7678G>T (p.Val2560Leu) c.7597G>T (p.Val2533Leu) c.4459G>T (p.Val1487Leu) c.7735G>T (n.7735G>T) c.280-750G>T c.7957G>T (n.7957G>T) n.3396G>T c.7558G>T (p.Val2520Leu) c.7634G>T (n.7634G>T) n.833G>T n.4907G>T n.68-610G>T n.719G>T c.6682G>T (p.Val2228Leu) c.7582G>T (p.Val2528Leu) c.7504G>T (p.Val2502Leu) c.7480G>T (p.Val2494Leu) c.7477G>T (p.Val2493Leu) | dbSNP |
X | g.154349440C= | CA2466651506 | FLNA | c.7654G= (p.Val2552=) c.7678G= (p.Val2560=) c.7597G= (p.Val2533=) c.4459G= (p.Val1487=) c.7735G= (n.7735G=) c.280-750G= c.7957G= (n.7957G=) n.3396G= c.7558G= (p.Val2520=) c.7634G= (n.7634G=) n.833G= n.4907G= n.68-610G= n.719G= c.6682G= (p.Val2228=) c.7582G= (p.Val2528=) c.7504G= (p.Val2502=) c.7480G= (p.Val2494=) c.7477G= (p.Val2493=) | |
X | g.154349440C>G | CA415180010 | FLNA | c.7654G>C (p.Val2552Leu) c.7678G>C (p.Val2560Leu) c.7597G>C (p.Val2533Leu) c.4459G>C (p.Val1487Leu) c.7735G>C (n.7735G>C) c.280-750G>C c.7957G>C (n.7957G>C) n.3396G>C c.7558G>C (p.Val2520Leu) c.7634G>C (n.7634G>C) n.833G>C n.4907G>C n.68-610G>C n.719G>C c.6682G>C (p.Val2228Leu) c.7582G>C (p.Val2528Leu) c.7504G>C (p.Val2502Leu) c.7480G>C (p.Val2494Leu) c.7477G>C (p.Val2493Leu) | gnomAD v4 |
X | g.154349440C>T | CA415180011 | FLNA | c.7654G>A (p.Val2552Met) c.7678G>A (p.Val2560Met) c.7597G>A (p.Val2533Met) c.4459G>A (p.Val1487Met) c.7735G>A (n.7735G>A) c.280-750G>A c.7957G>A (n.7957G>A) n.3396G>A c.7558G>A (p.Val2520Met) c.7634G>A (n.7634G>A) n.833G>A n.4907G>A n.68-610G>A n.719G>A c.6682G>A (p.Val2228Met) c.7582G>A (p.Val2528Met) c.7504G>A (p.Val2502Met) c.7480G>A (p.Val2494Met) c.7477G>A (p.Val2493Met) | |
X | g.154349441C>A | CA415180018 | FLNA | c.7653G>T (p.Lys2551Asn) c.7677G>T (p.Lys2559Asn) c.7596G>T (p.Lys2532Asn) c.4458G>T (p.Lys1486Asn) c.7734G>T (n.7734G>T) c.280-751G>T c.7956G>T (n.7956G>T) n.3395G>T c.7557G>T (p.Lys2519Asn) c.7633G>T (n.7633G>T) n.832G>T n.4906G>T n.68-611G>T n.718G>T c.6681G>T (p.Lys2227Asn) c.7581G>T (p.Lys2527Asn) c.7503G>T (p.Lys2501Asn) c.7479G>T (p.Lys2493Asn) c.7476G>T (p.Lys2492Asn) | gnomAD v4 |
X | g.154349441C= | CA2466651507 | FLNA | c.7653G= (p.Lys2551=) c.7677G= (p.Lys2559=) c.7596G= (p.Lys2532=) c.4458G= (p.Lys1486=) c.7734G= (n.7734G=) c.280-751G= c.7956G= (n.7956G=) n.3395G= c.7557G= (p.Lys2519=) c.7633G= (n.7633G=) n.832G= n.4906G= n.68-611G= n.718G= c.6681G= (p.Lys2227=) c.7581G= (p.Lys2527=) c.7503G= (p.Lys2501=) c.7479G= (p.Lys2493=) c.7476G= (p.Lys2492=) | |
X | g.154349441C>G | CA415180015 | FLNA | c.7653G>C (p.Lys2551Asn) c.7677G>C (p.Lys2559Asn) c.7596G>C (p.Lys2532Asn) c.4458G>C (p.Lys1486Asn) c.7734G>C (n.7734G>C) c.280-751G>C c.7956G>C (n.7956G>C) n.3395G>C c.7557G>C (p.Lys2519Asn) c.7633G>C (n.7633G>C) n.832G>C n.4906G>C n.68-611G>C n.718G>C c.6681G>C (p.Lys2227Asn) c.7581G>C (p.Lys2527Asn) c.7503G>C (p.Lys2501Asn) c.7479G>C (p.Lys2493Asn) c.7476G>C (p.Lys2492Asn) | |
X | g.154349441C>T | CA337272699 | FLNA | c.7653G>A (p.Lys2551=) c.7677G>A (p.Lys2559=) c.7596G>A (p.Lys2532=) c.4458G>A (p.Lys1486=) c.7734G>A (n.7734G>A) c.280-751G>A c.7956G>A (n.7956G>A) n.3395G>A c.7557G>A (p.Lys2519=) c.7633G>A (n.7633G>A) n.832G>A n.4906G>A n.68-611G>A n.718G>A c.6681G>A (p.Lys2227=) c.7581G>A (p.Lys2527=) c.7503G>A (p.Lys2501=) c.7479G>A (p.Lys2493=) c.7476G>A (p.Lys2492=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.154349442T>A | CA415180019 | FLNA | c.7652A>T (p.Lys2551Met) c.7676A>T (p.Lys2559Met) c.7595A>T (p.Lys2532Met) c.4457A>T (p.Lys1486Met) c.7733A>T (n.7733A>T) c.280-752A>T c.7955A>T (n.7955A>T) n.3394A>T c.7556A>T (p.Lys2519Met) c.7632A>T (n.7632A>T) n.831A>T n.4905A>T n.68-612A>T n.717A>T c.6680A>T (p.Lys2227Met) c.7580A>T (p.Lys2527Met) c.7502A>T (p.Lys2501Met) c.7478A>T (p.Lys2493Met) c.7475A>T (p.Lys2492Met) | |
X | g.154349442T>C | CA415180042 | FLNA | c.7652A>G (p.Lys2551Arg) c.7676A>G (p.Lys2559Arg) c.7595A>G (p.Lys2532Arg) c.4457A>G (p.Lys1486Arg) c.7733A>G (n.7733A>G) c.280-752A>G c.7955A>G (n.7955A>G) n.3394A>G c.7556A>G (p.Lys2519Arg) c.7632A>G (n.7632A>G) n.831A>G n.4905A>G n.68-612A>G n.717A>G c.6680A>G (p.Lys2227Arg) c.7580A>G (p.Lys2527Arg) c.7502A>G (p.Lys2501Arg) c.7478A>G (p.Lys2493Arg) c.7475A>G (p.Lys2492Arg) | |
X | g.154349442T>G | CA415180023 | FLNA | c.7652A>C (p.Lys2551Thr) c.7676A>C (p.Lys2559Thr) c.7595A>C (p.Lys2532Thr) c.4457A>C (p.Lys1486Thr) c.7733A>C (n.7733A>C) c.280-752A>C c.7955A>C (n.7955A>C) n.3394A>C c.7556A>C (p.Lys2519Thr) c.7632A>C (n.7632A>C) n.831A>C n.4905A>C n.68-612A>C n.717A>C c.6680A>C (p.Lys2227Thr) c.7580A>C (p.Lys2527Thr) c.7502A>C (p.Lys2501Thr) c.7478A>C (p.Lys2493Thr) c.7475A>C (p.Lys2492Thr) | |
X | g.154349443T>A | CA415180045 | FLNA | c.7651A>T (p.Lys2551Ter) c.7675A>T (p.Lys2559Ter) c.7594A>T (p.Lys2532Ter) c.4456A>T (p.Lys1486Ter) c.7732A>T (n.7732A>T) c.280-753A>T c.7954A>T (n.7954A>T) n.3393A>T c.7555A>T (p.Lys2519Ter) c.7631A>T (n.7631A>T) n.830A>T n.4904A>T n.68-613A>T n.716A>T c.6679A>T (p.Lys2227Ter) c.7579A>T (p.Lys2527Ter) c.7501A>T (p.Lys2501Ter) c.7477A>T (p.Lys2493Ter) c.7474A>T (p.Lys2492Ter) | |
X | g.154349443T>C | CA415180051 | FLNA | c.7651A>G (p.Lys2551Glu) c.7675A>G (p.Lys2559Glu) c.7594A>G (p.Lys2532Glu) c.4456A>G (p.Lys1486Glu) c.7732A>G (n.7732A>G) c.280-753A>G c.7954A>G (n.7954A>G) n.3393A>G c.7555A>G (p.Lys2519Glu) c.7631A>G (n.7631A>G) n.830A>G n.4904A>G n.68-613A>G n.716A>G c.6679A>G (p.Lys2227Glu) c.7579A>G (p.Lys2527Glu) c.7501A>G (p.Lys2501Glu) c.7477A>G (p.Lys2493Glu) c.7474A>G (p.Lys2492Glu) | |
X | g.154349443T>G | CA415180056 | FLNA | c.7651A>C (p.Lys2551Gln) c.7675A>C (p.Lys2559Gln) c.7594A>C (p.Lys2532Gln) c.4456A>C (p.Lys1486Gln) c.7732A>C (n.7732A>C) c.280-753A>C c.7954A>C (n.7954A>C) n.3393A>C c.7555A>C (p.Lys2519Gln) c.7631A>C (n.7631A>C) n.830A>C n.4904A>C n.68-613A>C n.716A>C c.6679A>C (p.Lys2227Gln) c.7579A>C (p.Lys2527Gln) c.7501A>C (p.Lys2501Gln) c.7477A>C (p.Lys2493Gln) c.7474A>C (p.Lys2492Gln) | |
X | g.154349444G>A | CA519276320 | FLNA | c.7650C>T (p.Ser2550=) c.7674C>T (p.Ser2558=) c.7593C>T (p.Ser2531=) c.4455C>T (p.Ser1485=) c.7731C>T (n.7731C>T) c.280-754C>T c.7953C>T (n.7953C>T) n.3392C>T c.7554C>T (p.Ser2518=) c.7630C>T (n.7630C>T) n.829C>T n.4903C>T n.68-614C>T n.715C>T c.6678C>T (p.Ser2226=) c.7578C>T (p.Ser2526=) c.7500C>T (p.Ser2500=) c.7476C>T (p.Ser2492=) c.7473C>T (p.Ser2491=) | gnomAD v4 |
X | g.154349444G>C | CA415180060 | FLNA | c.7650C>G (p.Ser2550Arg) c.7674C>G (p.Ser2558Arg) c.7593C>G (p.Ser2531Arg) c.4455C>G (p.Ser1485Arg) c.7731C>G (n.7731C>G) c.280-754C>G c.7953C>G (n.7953C>G) n.3392C>G c.7554C>G (p.Ser2518Arg) c.7630C>G (n.7630C>G) n.829C>G n.4903C>G n.68-614C>G n.715C>G c.6678C>G (p.Ser2226Arg) c.7578C>G (p.Ser2526Arg) c.7500C>G (p.Ser2500Arg) c.7476C>G (p.Ser2492Arg) c.7473C>G (p.Ser2491Arg) | COSMIC COSMIC |
X | g.154349444G>T | CA415180063 | FLNA | c.7650C>A (p.Ser2550Arg) c.7674C>A (p.Ser2558Arg) c.7593C>A (p.Ser2531Arg) c.4455C>A (p.Ser1485Arg) c.7731C>A (n.7731C>A) c.280-754C>A c.7953C>A (n.7953C>A) n.3392C>A c.7554C>A (p.Ser2518Arg) c.7630C>A (n.7630C>A) n.829C>A n.4903C>A n.68-614C>A n.715C>A c.6678C>A (p.Ser2226Arg) c.7578C>A (p.Ser2526Arg) c.7500C>A (p.Ser2500Arg) c.7476C>A (p.Ser2492Arg) c.7473C>A (p.Ser2491Arg) | |
X | g.154349444_154349445delinsCT | CA2740090150 | FLNA | c.7649_7650delinsAG (p.Ser2550Lys) c.7673_7674delinsAG (p.Ser2558Lys) c.7592_7593delinsAG (p.Ser2531Lys) c.4454_4455delinsAG (p.Ser1485Lys) c.7730_7731delinsAG (n.7730_7731delinsAG) c.280-755_280-754delinsAG c.7952_7953delinsAG (n.7952_7953delinsAG) n.3391_3392delinsAG c.7553_7554delinsAG (p.Ser2518Lys) c.7629_7630delinsAG (n.7629_7630delinsAG) n.828_829delinsAG n.4902_4903delinsAG n.68-615_68-614delinsAG n.714_715delinsAG c.6677_6678delinsAG (p.Ser2226Lys) c.7577_7578delinsAG (p.Ser2526Lys) c.7499_7500delinsAG (p.Ser2500Lys) c.7475_7476delinsAG (p.Ser2492Lys) c.7472_7473delinsAG (p.Ser2491Lys) | ClinVar |
X | g.154349445C>A | CA415180069 | FLNA | c.7649G>T (p.Ser2550Ile) c.7673G>T (p.Ser2558Ile) c.7592G>T (p.Ser2531Ile) c.4454G>T (p.Ser1485Ile) c.7730G>T (n.7730G>T) c.280-755G>T c.7952G>T (n.7952G>T) n.3391G>T c.7553G>T (p.Ser2518Ile) c.7629G>T (n.7629G>T) n.828G>T n.4902G>T n.68-615G>T n.714G>T c.6677G>T (p.Ser2226Ile) c.7577G>T (p.Ser2526Ile) c.7499G>T (p.Ser2500Ile) c.7475G>T (p.Ser2492Ile) c.7472G>T (p.Ser2491Ile) | |
X | g.154349445C>G | CA415180079 | FLNA | c.7649G>C (p.Ser2550Thr) c.7673G>C (p.Ser2558Thr) c.7592G>C (p.Ser2531Thr) c.4454G>C (p.Ser1485Thr) c.7730G>C (n.7730G>C) c.280-755G>C c.7952G>C (n.7952G>C) n.3391G>C c.7553G>C (p.Ser2518Thr) c.7629G>C (n.7629G>C) n.828G>C n.4902G>C n.68-615G>C n.714G>C c.6677G>C (p.Ser2226Thr) c.7577G>C (p.Ser2526Thr) c.7499G>C (p.Ser2500Thr) c.7475G>C (p.Ser2492Thr) c.7472G>C (p.Ser2491Thr) | |
X | g.154349445C>T | CA415180083 | FLNA | c.7649G>A (p.Ser2550Asn) c.7673G>A (p.Ser2558Asn) c.7592G>A (p.Ser2531Asn) c.4454G>A (p.Ser1485Asn) c.7730G>A (n.7730G>A) c.280-755G>A c.7952G>A (n.7952G>A) n.3391G>A c.7553G>A (p.Ser2518Asn) c.7629G>A (n.7629G>A) n.828G>A n.4902G>A n.68-615G>A n.714G>A c.6677G>A (p.Ser2226Asn) c.7577G>A (p.Ser2526Asn) c.7499G>A (p.Ser2500Asn) c.7475G>A (p.Ser2492Asn) c.7472G>A (p.Ser2491Asn) | |
X | g.154349446T>A | CA415180084 | FLNA | c.7648A>T (p.Ser2550Cys) c.7672A>T (p.Ser2558Cys) c.7591A>T (p.Ser2531Cys) c.4453A>T (p.Ser1485Cys) c.7729A>T (n.7729A>T) c.280-756A>T c.7951A>T (n.7951A>T) n.3390A>T c.7552A>T (p.Ser2518Cys) c.7628A>T (n.7628A>T) n.827A>T n.4901A>T n.68-616A>T n.713A>T c.6676A>T (p.Ser2226Cys) c.7576A>T (p.Ser2526Cys) c.7498A>T (p.Ser2500Cys) c.7474A>T (p.Ser2492Cys) c.7471A>T (p.Ser2491Cys) | |
X | g.154349446T>C | CA415180085 | FLNA | c.7648A>G (p.Ser2550Gly) c.7672A>G (p.Ser2558Gly) c.7591A>G (p.Ser2531Gly) c.4453A>G (p.Ser1485Gly) c.7729A>G (n.7729A>G) c.280-756A>G c.7951A>G (n.7951A>G) n.3390A>G c.7552A>G (p.Ser2518Gly) c.7628A>G (n.7628A>G) n.827A>G n.4901A>G n.68-616A>G n.713A>G c.6676A>G (p.Ser2226Gly) c.7576A>G (p.Ser2526Gly) c.7498A>G (p.Ser2500Gly) c.7474A>G (p.Ser2492Gly) c.7471A>G (p.Ser2491Gly) | |
X | g.154349446T>G | CA415180087 | FLNA | c.7648A>C (p.Ser2550Arg) c.7672A>C (p.Ser2558Arg) c.7591A>C (p.Ser2531Arg) c.4453A>C (p.Ser1485Arg) c.7729A>C (n.7729A>C) c.280-756A>C c.7951A>C (n.7951A>C) n.3390A>C c.7552A>C (p.Ser2518Arg) c.7628A>C (n.7628A>C) n.827A>C n.4901A>C n.68-616A>C n.713A>C c.6676A>C (p.Ser2226Arg) c.7576A>C (p.Ser2526Arg) c.7498A>C (p.Ser2500Arg) c.7474A>C (p.Ser2492Arg) c.7471A>C (p.Ser2491Arg) | gnomAD v4 |
X | g.154349447G>A | CA221730 | FLNA | c.7647C>T (p.Ala2549=) c.7671C>T (p.Ala2557=) c.7590C>T (p.Ala2530=) c.4452C>T (p.Ala1484=) c.7728C>T (n.7728C>T) c.280-757C>T c.7950C>T (n.7950C>T) n.3389C>T c.7551C>T (p.Ala2517=) c.7627C>T (n.7627C>T) n.826C>T n.4900C>T n.68-617C>T n.712C>T c.6675C>T (p.Ala2225=) c.7575C>T (p.Ala2525=) c.7497C>T (p.Ala2499=) c.7473C>T (p.Ala2491=) c.7470C>T (p.Ala2490=) | ClinVar dbSNP |
X | g.154349447G>C | CA519276322 | FLNA | c.7647C>G (p.Ala2549=) c.7671C>G (p.Ala2557=) c.7590C>G (p.Ala2530=) c.4452C>G (p.Ala1484=) c.7728C>G (n.7728C>G) c.280-757C>G c.7950C>G (n.7950C>G) n.3389C>G c.7551C>G (p.Ala2517=) c.7627C>G (n.7627C>G) n.826C>G n.4900C>G n.68-617C>G n.712C>G c.6675C>G (p.Ala2225=) c.7575C>G (p.Ala2525=) c.7497C>G (p.Ala2499=) c.7473C>G (p.Ala2491=) c.7470C>G (p.Ala2490=) | |
X | g.154349447G= | CA2466651508 | FLNA | c.7647C= (p.Ala2549=) c.7671C= (p.Ala2557=) c.7590C= (p.Ala2530=) c.4452C= (p.Ala1484=) c.7728C= (n.7728C=) c.280-757C= c.7950C= (n.7950C=) n.3389C= c.7551C= (p.Ala2517=) c.7627C= (n.7627C=) n.826C= n.4900C= n.68-617C= n.712C= c.6675C= (p.Ala2225=) c.7575C= (p.Ala2525=) c.7497C= (p.Ala2499=) c.7473C= (p.Ala2491=) c.7470C= (p.Ala2490=) | |
X | g.154349447G>T | CA519276321 | FLNA | c.7647C>A (p.Ala2549=) c.7671C>A (p.Ala2557=) c.7590C>A (p.Ala2530=) c.4452C>A (p.Ala1484=) c.7728C>A (n.7728C>A) c.280-757C>A c.7950C>A (n.7950C>A) n.3389C>A c.7551C>A (p.Ala2517=) c.7627C>A (n.7627C>A) n.826C>A n.4900C>A n.68-617C>A n.712C>A c.6675C>A (p.Ala2225=) c.7575C>A (p.Ala2525=) c.7497C>A (p.Ala2499=) c.7473C>A (p.Ala2491=) c.7470C>A (p.Ala2490=) | |
X | g.154349448del | CA2573055154 | FLNA | c.7647del (p.Ser2550AlafsTer10) c.7671del (p.Ser2558AlafsTer10) c.7590del (p.Ser2531AlafsTer10) c.4452del (p.Ser1485AlafsTer10) c.7728del (n.7728del) c.280-757del c.7950del (n.7950del) n.3389del c.7551del (p.Ser2518AlafsTer10) c.7627del (n.7627del) n.826del n.4900del n.68-617del n.712del c.6675del (p.Ser2226AlafsTer10) c.7575del (p.Ser2526AlafsTer10) c.7497del (p.Ser2500AlafsTer10) c.7473del (p.Ser2492AlafsTer10) c.7470del (p.Ser2491AlafsTer10) | ClinVar dbSNP |
X | g.154349448G>A | CA415180096 | FLNA | c.7646C>T (p.Ala2549Val) c.7670C>T (p.Ala2557Val) c.7589C>T (p.Ala2530Val) c.4451C>T (p.Ala1484Val) c.7727C>T (n.7727C>T) c.280-758C>T c.7949C>T (n.7949C>T) n.3388C>T c.7550C>T (p.Ala2517Val) c.7626C>T (n.7626C>T) n.825C>T n.4899C>T n.68-618C>T n.711C>T c.6674C>T (p.Ala2225Val) c.7574C>T (p.Ala2525Val) c.7496C>T (p.Ala2499Val) c.7472C>T (p.Ala2491Val) c.7469C>T (p.Ala2490Val) | dbSNP gnomAD v3 gnomAD v4 |
X | g.154349448G>C | CA415180093 | FLNA | c.7646C>G (p.Ala2549Gly) c.7670C>G (p.Ala2557Gly) c.7589C>G (p.Ala2530Gly) c.4451C>G (p.Ala1484Gly) c.7727C>G (n.7727C>G) c.280-758C>G c.7949C>G (n.7949C>G) n.3388C>G c.7550C>G (p.Ala2517Gly) c.7626C>G (n.7626C>G) n.825C>G n.4899C>G n.68-618C>G n.711C>G c.6674C>G (p.Ala2225Gly) c.7574C>G (p.Ala2525Gly) c.7496C>G (p.Ala2499Gly) c.7472C>G (p.Ala2491Gly) c.7469C>G (p.Ala2490Gly) | |
X | g.154349448G= | CA2466651509 | FLNA | c.7646C= (p.Ala2549=) c.7670C= (p.Ala2557=) c.7589C= (p.Ala2530=) c.4451C= (p.Ala1484=) c.7727C= (n.7727C=) c.280-758C= c.7949C= (n.7949C=) n.3388C= c.7550C= (p.Ala2517=) c.7626C= (n.7626C=) n.825C= n.4899C= n.68-618C= n.711C= c.6674C= (p.Ala2225=) c.7574C= (p.Ala2525=) c.7496C= (p.Ala2499=) c.7472C= (p.Ala2491=) c.7469C= (p.Ala2490=) | |
X | g.154349448G>T | CA415180091 | FLNA | c.7646C>A (p.Ala2549Asp) c.7670C>A (p.Ala2557Asp) c.7589C>A (p.Ala2530Asp) c.4451C>A (p.Ala1484Asp) c.7727C>A (n.7727C>A) c.280-758C>A c.7949C>A (n.7949C>A) n.3388C>A c.7550C>A (p.Ala2517Asp) c.7626C>A (n.7626C>A) n.825C>A n.4899C>A n.68-618C>A n.711C>A c.6674C>A (p.Ala2225Asp) c.7574C>A (p.Ala2525Asp) c.7496C>A (p.Ala2499Asp) c.7472C>A (p.Ala2491Asp) c.7469C>A (p.Ala2490Asp) | |
X | g.154349449C>A | CA415180099 | FLNA | c.7645G>T (p.Ala2549Ser) c.7669G>T (p.Ala2557Ser) c.7588G>T (p.Ala2530Ser) c.4450G>T (p.Ala1484Ser) c.7726G>T (n.7726G>T) c.280-759G>T c.7948G>T (n.7948G>T) n.3387G>T c.7549G>T (p.Ala2517Ser) c.7625G>T (n.7625G>T) n.824G>T n.4898G>T n.68-619G>T n.710G>T c.6673G>T (p.Ala2225Ser) c.7573G>T (p.Ala2525Ser) c.7495G>T (p.Ala2499Ser) c.7471G>T (p.Ala2491Ser) c.7468G>T (p.Ala2490Ser) | |
X | g.154349449C= | CA2466651510 | FLNA | c.7645G= (p.Ala2549=) c.7669G= (p.Ala2557=) c.7588G= (p.Ala2530=) c.4450G= (p.Ala1484=) c.7726G= (n.7726G=) c.280-759G= c.7948G= (n.7948G=) n.3387G= c.7549G= (p.Ala2517=) c.7625G= (n.7625G=) n.824G= n.4898G= n.68-619G= n.710G= c.6673G= (p.Ala2225=) c.7573G= (p.Ala2525=) c.7495G= (p.Ala2499=) c.7471G= (p.Ala2491=) c.7468G= (p.Ala2490=) | |
X | g.154349449C>G | CA415180101 | FLNA | c.7645G>C (p.Ala2549Pro) c.7669G>C (p.Ala2557Pro) c.7588G>C (p.Ala2530Pro) c.4450G>C (p.Ala1484Pro) c.7726G>C (n.7726G>C) c.280-759G>C c.7948G>C (n.7948G>C) n.3387G>C c.7549G>C (p.Ala2517Pro) c.7625G>C (n.7625G>C) n.824G>C n.4898G>C n.68-619G>C n.710G>C c.6673G>C (p.Ala2225Pro) c.7573G>C (p.Ala2525Pro) c.7495G>C (p.Ala2499Pro) c.7471G>C (p.Ala2491Pro) c.7468G>C (p.Ala2490Pro) | |
X | g.154349449C>T | CA10559856 | FLNA | c.7645G>A (p.Ala2549Thr) c.7669G>A (p.Ala2557Thr) c.7588G>A (p.Ala2530Thr) c.4450G>A (p.Ala1484Thr) c.7726G>A (n.7726G>A) c.280-759G>A c.7948G>A (n.7948G>A) n.3387G>A c.7549G>A (p.Ala2517Thr) c.7625G>A (n.7625G>A) n.824G>A n.4898G>A n.68-619G>A n.710G>A c.6673G>A (p.Ala2225Thr) c.7573G>A (p.Ala2525Thr) c.7495G>A (p.Ala2499Thr) c.7471G>A (p.Ala2491Thr) c.7468G>A (p.Ala2490Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
X | g.154349450G>A | CA10559857 | FLNA | c.7644C>T (p.Asp2548=) c.7668C>T (p.Asp2556=) c.7587C>T (p.Asp2529=) c.4449C>T (p.Asp1483=) c.7725C>T (n.7725C>T) c.280-760C>T c.7947C>T (n.7947C>T) n.3386C>T c.7548C>T (p.Asp2516=) c.7624C>T (n.7624C>T) n.823C>T n.4897C>T n.68-620C>T n.709C>T c.6672C>T (p.Asp2224=) c.7572C>T (p.Asp2524=) c.7494C>T (p.Asp2498=) c.7470C>T (p.Asp2490=) c.7467C>T (p.Asp2489=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
X | g.154349450G>C | CA415180109 | FLNA | c.7644C>G (p.Asp2548Glu) c.7668C>G (p.Asp2556Glu) c.7587C>G (p.Asp2529Glu) c.4449C>G (p.Asp1483Glu) c.7725C>G (n.7725C>G) c.280-760C>G c.7947C>G (n.7947C>G) n.3386C>G c.7548C>G (p.Asp2516Glu) c.7624C>G (n.7624C>G) n.823C>G n.4897C>G n.68-620C>G n.709C>G c.6672C>G (p.Asp2224Glu) c.7572C>G (p.Asp2524Glu) c.7494C>G (p.Asp2498Glu) c.7470C>G (p.Asp2490Glu) c.7467C>G (p.Asp2489Glu) | |
X | g.154349450G= | CA2466651511 | FLNA | c.7644C= (p.Asp2548=) c.7668C= (p.Asp2556=) c.7587C= (p.Asp2529=) c.4449C= (p.Asp1483=) c.7725C= (n.7725C=) c.280-760C= c.7947C= (n.7947C=) n.3386C= c.7548C= (p.Asp2516=) c.7624C= (n.7624C=) n.823C= n.4897C= n.68-620C= n.709C= c.6672C= (p.Asp2224=) c.7572C= (p.Asp2524=) c.7494C= (p.Asp2498=) c.7470C= (p.Asp2490=) c.7467C= (p.Asp2489=) | |
X | g.154349450G>T | CA415180110 | FLNA | c.7644C>A (p.Asp2548Glu) c.7668C>A (p.Asp2556Glu) c.7587C>A (p.Asp2529Glu) c.4449C>A (p.Asp1483Glu) c.7725C>A (n.7725C>A) c.280-760C>A c.7947C>A (n.7947C>A) n.3386C>A c.7548C>A (p.Asp2516Glu) c.7624C>A (n.7624C>A) n.823C>A n.4897C>A n.68-620C>A n.709C>A c.6672C>A (p.Asp2224Glu) c.7572C>A (p.Asp2524Glu) c.7494C>A (p.Asp2498Glu) c.7470C>A (p.Asp2490Glu) c.7467C>A (p.Asp2489Glu) | |
X | g.154349451T>A | CA415180114 | FLNA | c.7643A>T (p.Asp2548Val) c.7667A>T (p.Asp2556Val) c.7586A>T (p.Asp2529Val) c.4448A>T (p.Asp1483Val) c.7724A>T (n.7724A>T) c.280-761A>T c.7946A>T (n.7946A>T) n.3385A>T c.7547A>T (p.Asp2516Val) c.7623A>T (n.7623A>T) n.822A>T n.4896A>T n.68-621A>T n.708A>T c.6671A>T (p.Asp2224Val) c.7571A>T (p.Asp2524Val) c.7493A>T (p.Asp2498Val) c.7469A>T (p.Asp2490Val) c.7466A>T (p.Asp2489Val) | |
X | g.154349451T>C | CA337272711 | FLNA | c.7643A>G (p.Asp2548Gly) c.7667A>G (p.Asp2556Gly) c.7586A>G (p.Asp2529Gly) c.4448A>G (p.Asp1483Gly) c.7724A>G (n.7724A>G) c.280-761A>G c.7946A>G (n.7946A>G) n.3385A>G c.7547A>G (p.Asp2516Gly) c.7623A>G (n.7623A>G) n.822A>G n.4896A>G n.68-621A>G n.708A>G c.6671A>G (p.Asp2224Gly) c.7571A>G (p.Asp2524Gly) c.7493A>G (p.Asp2498Gly) c.7469A>G (p.Asp2490Gly) c.7466A>G (p.Asp2489Gly) | dbSNP |
X | g.154349451T>G | CA415180162 | FLNA | c.7643A>C (p.Asp2548Ala) c.7667A>C (p.Asp2556Ala) c.7586A>C (p.Asp2529Ala) c.4448A>C (p.Asp1483Ala) c.7724A>C (n.7724A>C) c.280-761A>C c.7946A>C (n.7946A>C) n.3385A>C c.7547A>C (p.Asp2516Ala) c.7623A>C (n.7623A>C) n.822A>C n.4896A>C n.68-621A>C n.708A>C c.6671A>C (p.Asp2224Ala) c.7571A>C (p.Asp2524Ala) c.7493A>C (p.Asp2498Ala) c.7469A>C (p.Asp2490Ala) c.7466A>C (p.Asp2489Ala) | |
X | g.154349451T= | CA2466651513 | FLNA | c.7643A= (p.Asp2548=) c.7667A= (p.Asp2556=) c.7586A= (p.Asp2529=) c.4448A= (p.Asp1483=) c.7724A= (n.7724A=) c.280-761A= c.7946A= (n.7946A=) n.3385A= c.7547A= (p.Asp2516=) c.7623A= (n.7623A=) n.822A= n.4896A= n.68-621A= n.708A= c.6671A= (p.Asp2224=) c.7571A= (p.Asp2524=) c.7493A= (p.Asp2498=) c.7469A= (p.Asp2490=) c.7466A= (p.Asp2489=) | |
X | g.154349452C>A | CA415180166 | FLNA | c.7642G>T (p.Asp2548Tyr) c.7666G>T (p.Asp2556Tyr) c.7585G>T (p.Asp2529Tyr) c.4447G>T (p.Asp1483Tyr) c.7723G>T (n.7723G>T) c.280-762G>T c.7945G>T (n.7945G>T) n.3384G>T c.7546G>T (p.Asp2516Tyr) c.7622G>T (n.7622G>T) n.821G>T n.4895G>T n.68-622G>T n.707G>T c.6670G>T (p.Asp2224Tyr) c.7570G>T (p.Asp2524Tyr) c.7492G>T (p.Asp2498Tyr) c.7468G>T (p.Asp2490Tyr) c.7465G>T (p.Asp2489Tyr) | |
X | g.154349452C>G | CA415180167 | FLNA | c.7642G>C (p.Asp2548His) c.7666G>C (p.Asp2556His) c.7585G>C (p.Asp2529His) c.4447G>C (p.Asp1483His) c.7723G>C (n.7723G>C) c.280-762G>C c.7945G>C (n.7945G>C) n.3384G>C c.7546G>C (p.Asp2516His) c.7622G>C (n.7622G>C) n.821G>C n.4895G>C n.68-622G>C n.707G>C c.6670G>C (p.Asp2224His) c.7570G>C (p.Asp2524His) c.7492G>C (p.Asp2498His) c.7468G>C (p.Asp2490His) c.7465G>C (p.Asp2489His) | |
X | g.154349452C>T | CA415180169 | FLNA | c.7642G>A (p.Asp2548Asn) c.7666G>A (p.Asp2556Asn) c.7585G>A (p.Asp2529Asn) c.4447G>A (p.Asp1483Asn) c.7723G>A (n.7723G>A) c.280-762G>A c.7945G>A (n.7945G>A) n.3384G>A c.7546G>A (p.Asp2516Asn) c.7622G>A (n.7622G>A) n.821G>A n.4895G>A n.68-622G>A n.707G>A c.6670G>A (p.Asp2224Asn) c.7570G>A (p.Asp2524Asn) c.7492G>A (p.Asp2498Asn) c.7468G>A (p.Asp2490Asn) c.7465G>A (p.Asp2489Asn) | |
X | g.154349453A>C | CA519276323 | FLNA | c.7641T>G (p.Ala2547=) c.7665T>G (p.Ala2555=) c.7584T>G (p.Ala2528=) c.4446T>G (p.Ala1482=) c.7722T>G (n.7722T>G) c.280-763T>G c.7944T>G (n.7944T>G) n.3383T>G c.7545T>G (p.Ala2515=) c.7621T>G (n.7621T>G) n.820T>G n.4894T>G n.68-623T>G n.706T>G c.6669T>G (p.Ala2223=) c.7569T>G (p.Ala2523=) c.7491T>G (p.Ala2497=) c.7467T>G (p.Ala2489=) c.7464T>G (p.Ala2488=) | |
X | g.154349453A>G | CA519276324 | FLNA | c.7641T>C (p.Ala2547=) c.7665T>C (p.Ala2555=) c.7584T>C (p.Ala2528=) c.4446T>C (p.Ala1482=) c.7722T>C (n.7722T>C) c.280-763T>C c.7944T>C (n.7944T>C) n.3383T>C c.7545T>C (p.Ala2515=) c.7621T>C (n.7621T>C) n.820T>C n.4894T>C n.68-623T>C n.706T>C c.6669T>C (p.Ala2223=) c.7569T>C (p.Ala2523=) c.7491T>C (p.Ala2497=) c.7467T>C (p.Ala2489=) c.7464T>C (p.Ala2488=) | ClinVar dbSNP gnomAD v4 COSMIC |
X | g.154349453A>T | CA519276325 | FLNA | c.7641T>A (p.Ala2547=) c.7665T>A (p.Ala2555=) c.7584T>A (p.Ala2528=) c.4446T>A (p.Ala1482=) c.7722T>A (n.7722T>A) c.280-763T>A c.7944T>A (n.7944T>A) n.3383T>A c.7545T>A (p.Ala2515=) c.7621T>A (n.7621T>A) n.820T>A n.4894T>A n.68-623T>A n.706T>A c.6669T>A (p.Ala2223=) c.7569T>A (p.Ala2523=) c.7491T>A (p.Ala2497=) c.7467T>A (p.Ala2489=) c.7464T>A (p.Ala2488=) | |
X | g.154349454G>A | CA415180181 | FLNA | c.7640C>T (p.Ala2547Val) c.7664C>T (p.Ala2555Val) c.7583C>T (p.Ala2528Val) c.4445C>T (p.Ala1482Val) c.7721C>T (n.7721C>T) c.280-764C>T c.7943C>T (n.7943C>T) n.3382C>T c.7544C>T (p.Ala2515Val) c.7620C>T (n.7620C>T) n.819C>T n.4893C>T n.68-624C>T n.705C>T c.6668C>T (p.Ala2223Val) c.7568C>T (p.Ala2523Val) c.7490C>T (p.Ala2497Val) c.7466C>T (p.Ala2489Val) c.7463C>T (p.Ala2488Val) | ClinVar |
X | g.154349454G>C | CA415180175 | FLNA | c.7640C>G (p.Ala2547Gly) c.7664C>G (p.Ala2555Gly) c.7583C>G (p.Ala2528Gly) c.4445C>G (p.Ala1482Gly) c.7721C>G (n.7721C>G) c.280-764C>G c.7943C>G (n.7943C>G) n.3382C>G c.7544C>G (p.Ala2515Gly) c.7620C>G (n.7620C>G) n.819C>G n.4893C>G n.68-624C>G n.705C>G c.6668C>G (p.Ala2223Gly) c.7568C>G (p.Ala2523Gly) c.7490C>G (p.Ala2497Gly) c.7466C>G (p.Ala2489Gly) c.7463C>G (p.Ala2488Gly) | |
X | g.154349454G>T | CA415180180 | FLNA | c.7640C>A (p.Ala2547Asp) c.7664C>A (p.Ala2555Asp) c.7583C>A (p.Ala2528Asp) c.4445C>A (p.Ala1482Asp) c.7721C>A (n.7721C>A) c.280-764C>A c.7943C>A (n.7943C>A) n.3382C>A c.7544C>A (p.Ala2515Asp) c.7620C>A (n.7620C>A) n.819C>A n.4893C>A n.68-624C>A n.705C>A c.6668C>A (p.Ala2223Asp) c.7568C>A (p.Ala2523Asp) c.7490C>A (p.Ala2497Asp) c.7466C>A (p.Ala2489Asp) c.7463C>A (p.Ala2488Asp) |