Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.154349354T>CCA180042FLNAc.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
Xg.154349354T>GCA2602697404FLNAc.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
Xg.154349354T=CA2466652023FLNAc.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=)
Xg.154349355T>ACA10559847FLNAc.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
Xg.154349355T=CA2466652024FLNAc.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=)
Xg.154349356G>ACA873333691FLNAc.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
Xg.154349356G=CA2466652025FLNAc.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=)
Xg.154349356G>TCA873333694FLNAc.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
Xg.154349357C>TCA2695111068FLNAc.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
Xg.154349359delCA2559804808FLNAc.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
Xg.154349358_154349359delCA2695111067FLNAc.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
Xg.154349358C>ACA2695111069FLNAc.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
Xg.154349359C=CA2466652026FLNAc.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=)
Xg.154349359C>GCA337272649FLNAc.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
Xg.154349359C>TCA337272651FLNAc.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
Xg.154349360A=CA2466652027FLNAc.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=)
Xg.154349360A>CCA415179155FLNAc.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)
Xg.154349360A>GCA337272652FLNAc.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
Xg.154349360A>TCA337272653FLNAc.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
Xg.154349361C>ACA415179161FLNAc.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)
Xg.154349361C>GCA415179173FLNAc.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)
Xg.154349361C>TCA415179177FLNAc.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)
Xg.154349362C>ACA415179193FLNAc.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)
Xg.154349362C>GCA415179194FLNAc.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)
Xg.154349362C>TCA415179195FLNAc.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)
Xg.154349363T>ACA519276272FLNAc.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=)
Xg.154349363T>CCA519276273FLNAc.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=)
Xg.154349363T>GCA519276274FLNAc.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=)
Xg.154349364G>ACA415179211FLNAc.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)
Xg.154349364G>CCA415179201FLNAc.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)
Xg.154349364G>TCA415179207FLNAc.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)
Xg.154349365C>ACA415179217FLNAc.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)
Xg.154349365C=CA2466652028FLNAc.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=)
Xg.154349365C>GCA415179224FLNAc.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)
Xg.154349365C>TCA415179233FLNAc.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
Xg.154349366T>ACA415179246FLNAc.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)
Xg.154349366T>CCA519276275FLNAc.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=)
Xg.154349366T>GCA415179249FLNAc.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)
Xg.154349368delCA2824281327FLNAc.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)
Xg.154349367T>ACA415179252FLNAc.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)
Xg.154349367T>CCA415179255FLNAc.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)
Xg.154349367T>GCA415179256FLNAc.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)
Xg.154349368T>ACA415179262FLNAc.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)
Xg.154349368T>CCA415179266FLNAc.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)
Xg.154349368T>GCA415179267FLNAc.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)
Xg.154349369G>ACA519276276FLNAc.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=)
Xg.154349369G>CCA415179268FLNAc.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)
Xg.154349369G>TCA415179272FLNAc.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)
Xg.154349370C>ACA415179278FLNAc.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)
Xg.154349370C>GCA415179282FLNAc.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)
Xg.154349370C>TCA415179294FLNAc.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)
Xg.154349371T>ACA415179299FLNAc.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)
Xg.154349371T>CCA415179302FLNAc.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
Xg.154349371T>GCA415179306FLNAc.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)
Xg.154349372G>ACA519276277FLNAc.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=)
Xg.154349372G>CCA415179313FLNAc.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)
Xg.154349372G>TCA415179316FLNAc.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)
Xg.154349373C>ACA415179320FLNAc.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)
Xg.154349373C>GCA415179322FLNAc.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)
Xg.154349373C>TCA415179325FLNAc.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)
Xg.154349374A>CCA415179328FLNAc.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)
Xg.154349374A>GCA415179330FLNAc.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)
Xg.154349374A>TCA415179331FLNAc.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)
Xg.154349375G>ACA519276278FLNAc.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
Xg.154349375G>CCA415179332FLNAc.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)
Xg.154349375G>TCA415179334FLNAc.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
Xg.154349376T>ACA415179343FLNAc.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)
Xg.154349376T>CCA415179344FLNAc.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)
Xg.154349376T>GCA415179345FLNAc.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)
Xg.154349377C>ACA415179348FLNAc.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)
Xg.154349377C>GCA415179351FLNAc.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
Xg.154349377C>TCA415179354FLNAc.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)
Xg.154349378T>ACA519276279FLNAc.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=)
Xg.154349378T>CCA519276280FLNAc.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=)
Xg.154349378T>GCA519276281FLNAc.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=)
Xg.154349379A>CCA415179361FLNAc.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)
Xg.154349379A>GCA415179362FLNAc.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
Xg.154349379A>TCA415179363FLNAc.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)
Xg.154349380C>ACA415179366FLNAc.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)
Xg.154349380C=CA2466652029FLNAc.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=)
Xg.154349380C>GCA415179369FLNAc.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)
Xg.154349380C>TCA10559848FLNAc.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
Xg.154349381T>ACA519276282FLNAc.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=)
Xg.154349381T>CCA519276283FLNAc.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=)
Xg.154349381T>GCA519276284FLNAc.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=)
Xg.154349382G>ACA415179383FLNAc.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)
Xg.154349382G>CCA415179391FLNAc.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)
Xg.154349382G>TCA415179386FLNAc.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)
Xg.154349383T>ACA415179398FLNAc.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)
Xg.154349383T>CCA415179401FLNAc.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)
Xg.154349383T>GCA415179403FLNAc.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)
Xg.154349384G>ACA519276285FLNAc.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
Xg.154349384G>CCA415179405FLNAc.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)
Xg.154349384G>TCA415179406FLNAc.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)
Xg.154349385A>CCA415179409FLNAc.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)
Xg.154349385A>GCA415179410FLNAc.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)
Xg.154349385A>TCA415179412FLNAc.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)
Xg.154349386A>CCA415179414FLNAc.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)
Xg.154349386A>GCA415179415FLNAc.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
Xg.154349386A>TCA415179416FLNAc.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)
Xg.154349387G>ACA519276286FLNAc.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=)
Xg.154349387G>CCA415179426FLNAc.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)
Xg.154349387G>TCA415179418FLNAc.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)
Xg.154349388C>ACA415179431FLNAc.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)
Xg.154349388C>GCA415179434FLNAc.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)
Xg.154349388C>TCA415179438FLNAc.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)
Xg.154349389T>ACA415179444FLNAc.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)
Xg.154349389T>CCA415179449FLNAc.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)
Xg.154349389T>GCA415179459FLNAc.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)
Xg.154349390G>ACA519276287FLNAc.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
Xg.154349390G>CCA415179464FLNAc.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)
Xg.154349390G>TCA415179468FLNAc.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
Xg.154349391C>ACA415179471FLNAc.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)
Xg.154349391C>GCA415179478FLNAc.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)
Xg.154349391C>TCA415179483FLNAc.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
Xg.154349392T>ACA415179493FLNAc.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
Xg.154349392T>CCA415179501FLNAc.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
Xg.154349392T>GCA415179496FLNAc.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)
Xg.154349393C>ACA415179508FLNAc.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)
Xg.154349393C=CA2466652030FLNAc.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=)
Xg.154349393C>GCA415179513FLNAc.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)
Xg.154349393C>TCA10559849FLNAc.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
Xg.154349394T>ACA415179514FLNAc.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)
Xg.154349394T>CCA415179517FLNAc.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)
Xg.154349394T>GCA415179531FLNAc.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)
Xg.154349395T>ACA415179537FLNAc.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)
Xg.154349395T>CCA415179538FLNAc.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)
Xg.154349395T>GCA415179543FLNAc.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)
Xg.154349396C>ACA415179553FLNAc.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)
Xg.154349396C>GCA415179556FLNAc.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)
Xg.154349396C>TCA519276288FLNAc.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=)
Xg.154349397T>ACA415179562FLNAc.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)
Xg.154349397T>CCA415179578FLNAc.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)
Xg.154349397T>GCA415179579FLNAc.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)
Xg.154349398G>ACA415179582FLNAc.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)
Xg.154349398G>CCA415179581FLNAc.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)
Xg.154349398G>TCA415179580FLNAc.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
Xg.154349399G>ACA519276291FLNAc.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
Xg.154349399G>CCA519276289FLNAc.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=)
Xg.154349399G>TCA519276290FLNAc.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=)
Xg.154349400C>ACA415179584FLNAc.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)
Xg.154349400C>GCA415179585FLNAc.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)
Xg.154349400C>TCA415179586FLNAc.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)
Xg.154349401C>ACA415179589FLNAc.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)
Xg.154349401C=CA2466652031FLNAc.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=)
Xg.154349401C>GCA415179591FLNAc.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)
Xg.154349401C>TCA415179593FLNAc.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
Xg.154349402T>ACA519276292FLNAc.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=)
Xg.154349402T>CCA519276294FLNAc.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=)
Xg.154349402T>GCA519276293FLNAc.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=)
Xg.154349403A=CA2466652032FLNAc.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=)
Xg.154349403A>CCA415179598FLNAc.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)
Xg.154349403A>GCA10559850FLNAc.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
Xg.154349403A>TCA415179603FLNAc.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)
Xg.154349404C>ACA415179609FLNAc.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)
Xg.154349404C=CA2466652033FLNAc.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=)
Xg.154349404C>GCA415179617FLNAc.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)
Xg.154349404C>TCA10559851FLNAc.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
Xg.154349405G>ACA10559852FLNAc.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
Xg.154349405G>CCA415179636FLNAc.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)
Xg.154349405G=CA2466652034FLNAc.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=)
Xg.154349405G>TCA415179631FLNAc.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)
Xg.154349406T>ACA10559853FLNAc.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
Xg.154349406T>CCA415179648FLNAc.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)
Xg.154349406T>GCA415179653FLNAc.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)
Xg.154349406T=CA2466652035FLNAc.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=)
Xg.154349407A>CCA415179657FLNAc.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)
Xg.154349407A>GCA415179660FLNAc.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)
Xg.154349407A>TCA415179665FLNAc.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)
Xg.154349408G>ACA519276295FLNAc.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
Xg.154349408G>CCA10559854FLNAc.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
Xg.154349408G=CA2466652036FLNAc.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=)
Xg.154349408G>TCA519276296FLNAc.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=)
Xg.154349409G>ACA415179689FLNAc.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)
Xg.154349409G>CCA415179692FLNAc.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)
Xg.154349409G>TCA415179697FLNAc.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)
Xg.154349410C>ACA415179717FLNAc.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)
Xg.154349410C=CA2466652037FLNAc.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=)
Xg.154349410C>GCA415179709FLNAc.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)
Xg.154349410C>TCA415179703FLNAc.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
Xg.154349411C>ACA415179720FLNAc.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)
Xg.154349411C>GCA415179723FLNAc.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)
Xg.154349411C>TCA519276297FLNAc.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=)
Xg.154349412T>ACA415179725FLNAc.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
Xg.154349412T>CCA415179728FLNAc.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)
Xg.154349412T>GCA415179733FLNAc.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
Xg.154349412T=CA2466652038FLNAc.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=)
Xg.154349413T>ACA415179738FLNAc.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)
Xg.154349413T>CCA415179740FLNAc.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
Xg.154349413T>GCA415179744FLNAc.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)
Xg.154349413T=CA2466652039FLNAc.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=)
Xg.154349414G>ACA519276298FLNAc.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=)
Xg.154349414G>CCA415179747FLNAc.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
Xg.154349414G>TCA415179748FLNAc.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)
Xg.154349415C>ACA415179753FLNAc.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)
Xg.154349415C>GCA415179751FLNAc.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)
Xg.154349415C>TCA415179749FLNAc.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
Xg.154349416T>ACA415179761FLNAc.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)
Xg.154349416T>CCA415179767FLNAc.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
Xg.154349416T>GCA415179771FLNAc.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)
Xg.154349417C>ACA519276299FLNAc.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=)
Xg.154349417C>GCA519276301FLNAc.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=)
Xg.154349417C>TCA519276300FLNAc.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
Xg.154349418A>CCA415179776FLNAc.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)
Xg.154349418A>GCA415179779FLNAc.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)
Xg.154349418A>TCA415179783FLNAc.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)
Xg.154349419G>ACA519276302FLNAc.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
Xg.154349419G>CCA415179788FLNAc.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)
Xg.154349419G=CA2466652040FLNAc.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=)
Xg.154349419G>TCA415179785FLNAc.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)
Xg.154349420C>ACA519276303FLNAc.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=)
Xg.154349420C=CA2466652041FLNAc.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=)
Xg.154349420C>GCA519276304FLNAc.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=)
Xg.154349420C>TCA519276305FLNAc.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
Xg.154349421C>ACA415179791FLNAc.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)
Xg.154349421C>GCA415179792FLNAc.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)
Xg.154349421C>TCA415179793FLNAc.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)
Xg.154349422C>ACA415179796FLNAc.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)
Xg.154349422C>GCA415179809FLNAc.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)
Xg.154349422C>TCA415179814FLNAc.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)
Xg.154349423C>ACA519276306FLNAc.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=)
Xg.154349423C=CA2466652042FLNAc.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=)
Xg.154349423C>GCA519276307FLNAc.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=)
Xg.154349423C>TCA16608318FLNAc.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
Xg.154349424A>CCA415179818FLNAc.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)
Xg.154349424A>GCA415179826FLNAc.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)
Xg.154349424A>TCA415179822FLNAc.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)
Xg.154349425G>ACA519276308FLNAc.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=)
Xg.154349425G>CCA415179832FLNAc.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)
Xg.154349425G>TCA415179833FLNAc.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)
Xg.154349426G>ACA519276311FLNAc.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
Xg.154349426G>CCA519276310FLNAc.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=)
Xg.154349426G=CA2466652043FLNAc.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=)
Xg.154349426G>TCA519276309FLNAc.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=)
Xg.154349427C>ACA415179837FLNAc.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)
Xg.154349427C>GCA415179840FLNAc.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)
Xg.154349427C>TCA415179843FLNAc.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)
Xg.154349428C>ACA415179862FLNAc.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)
Xg.154349428C>GCA415179865FLNAc.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)
Xg.154349428C>TCA415179870FLNAc.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)
Xg.154349429C>ACA415179876FLNAc.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)
Xg.154349429C>GCA415179879FLNAc.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)
Xg.154349429C>TCA519276312FLNAc.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=)
Xg.154349430T>ACA415179884FLNAc.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
Xg.154349430T>CCA415179890FLNAc.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
Xg.154349430T>GCA415179887FLNAc.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)
Xg.154349431T>ACA415179892FLNAc.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)
Xg.154349431T>CCA415179894FLNAc.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)
Xg.154349431T>GCA415179897FLNAc.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)
Xg.154349432G>ACA303002FLNAc.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
Xg.154349432G>CCA519276313FLNAc.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
Xg.154349432G=CA2466652044FLNAc.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=)
Xg.154349432G>TCA519276314FLNAc.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
Xg.154349433G>ACA415179906FLNAc.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)
Xg.154349433G>CCA415179908FLNAc.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)
Xg.154349433G>TCA415179912FLNAc.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)
Xg.154349434C>ACA415179918FLNAc.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)
Xg.154349434C>GCA415179941FLNAc.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)
Xg.154349434C>TCA415179942FLNAc.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)
Xg.154349435C>ACA519276315FLNAc.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
Xg.154349435C=CA2466652045FLNAc.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=)
Xg.154349435C>GCA519276316FLNAc.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=)
Xg.154349435C>TCA10559855FLNAc.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
Xg.154349436A>CCA415179962FLNAc.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)
Xg.154349436A>GCA415179951FLNAc.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)
Xg.154349436A>TCA415179956FLNAc.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)
Xg.154349437C>ACA415179980FLNAc.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)
Xg.154349437C>GCA415179984FLNAc.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)
Xg.154349437C>TCA415179988FLNAc.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)
Xg.154349438C>ACA519276317FLNAc.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=)
Xg.154349438C>GCA519276318FLNAc.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=)
Xg.154349438C>TCA519276319FLNAc.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=)
Xg.154349439A=CA2466652046FLNAc.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=)
Xg.154349439A>CCA415179993FLNAc.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)
Xg.154349439A>GCA415179997FLNAc.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
Xg.154349439A>TCA415180003FLNAc.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)
Xg.154349440C>ACA415180007FLNAc.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
Xg.154349440C=CA2466651506FLNAc.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=)
Xg.154349440C>GCA415180010FLNAc.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
Xg.154349440C>TCA415180011FLNAc.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)
Xg.154349441C>ACA415180018FLNAc.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
Xg.154349441C=CA2466651507FLNAc.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=)
Xg.154349441C>GCA415180015FLNAc.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)
Xg.154349441C>TCA337272699FLNAc.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
Xg.154349442T>ACA415180019FLNAc.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)
Xg.154349442T>CCA415180042FLNAc.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)
Xg.154349442T>GCA415180023FLNAc.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)
Xg.154349443T>ACA415180045FLNAc.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)
Xg.154349443T>CCA415180051FLNAc.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)
Xg.154349443T>GCA415180056FLNAc.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)
Xg.154349444G>ACA519276320FLNAc.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
Xg.154349444G>CCA415180060FLNAc.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
Xg.154349444G>TCA415180063FLNAc.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)
Xg.154349444_154349445delinsCTCA2740090150FLNAc.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
Xg.154349445C>ACA415180069FLNAc.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)
Xg.154349445C>GCA415180079FLNAc.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)
Xg.154349445C>TCA415180083FLNAc.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)
Xg.154349446T>ACA415180084FLNAc.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)
Xg.154349446T>CCA415180085FLNAc.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)
Xg.154349446T>GCA415180087FLNAc.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
Xg.154349447G>ACA221730FLNAc.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
Xg.154349447G>CCA519276322FLNAc.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=)
Xg.154349447G=CA2466651508FLNAc.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=)
Xg.154349447G>TCA519276321FLNAc.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=)
Xg.154349448delCA2573055154FLNAc.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
Xg.154349448G>ACA415180096FLNAc.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
Xg.154349448G>CCA415180093FLNAc.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)
Xg.154349448G=CA2466651509FLNAc.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=)
Xg.154349448G>TCA415180091FLNAc.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)
Xg.154349449C>ACA415180099FLNAc.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)
Xg.154349449C=CA2466651510FLNAc.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=)
Xg.154349449C>GCA415180101FLNAc.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)
Xg.154349449C>TCA10559856FLNAc.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
Xg.154349450G>ACA10559857FLNAc.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
Xg.154349450G>CCA415180109FLNAc.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)
Xg.154349450G=CA2466651511FLNAc.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=)
Xg.154349450G>TCA415180110FLNAc.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)
Xg.154349451T>ACA415180114FLNAc.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)
Xg.154349451T>CCA337272711FLNAc.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
Xg.154349451T>GCA415180162FLNAc.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)
Xg.154349451T=CA2466651513FLNAc.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=)
Xg.154349452C>ACA415180166FLNAc.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)
Xg.154349452C>GCA415180167FLNAc.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)
Xg.154349452C>TCA415180169FLNAc.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)
Xg.154349453A>CCA519276323FLNAc.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=)
Xg.154349453A>GCA519276324FLNAc.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
Xg.154349453A>TCA519276325FLNAc.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=)
Xg.154349454G>ACA415180181FLNAc.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
Xg.154349454G>CCA415180175FLNAc.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)
Xg.154349454G>TCA415180180FLNAc.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)

Number of alleles fetched