Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.154350912G>ACA234014FLNAc.7129C>T (p.Gln2377Ter)
c.7153C>T (p.Gln2385Ter)
c.7072C>T (p.Gln2358Ter)
c.3934C>T (p.Gln1312Ter)
c.7210C>T (n.7210C>T)
c.280-2222C>T
c.7432C>T (n.7432C>T)
n.2871C>T
c.7033C>T (p.Gln2345Ter)
c.7109C>T (n.7109C>T)
n.3681C>T
n.67+1905C>T
n.194C>T
c.6157C>T (p.Gln2053Ter)
c.7057C>T (p.Gln2353Ter)
c.6979C>T (p.Gln2327Ter)
c.6955C>T (p.Gln2319Ter)
c.6952C>T (p.Gln2318Ter)
 ClinVar dbSNP
Xg.154350912G>CCA10559951FLNAc.7129C>G (p.Gln2377Glu)
c.7153C>G (p.Gln2385Glu)
c.7072C>G (p.Gln2358Glu)
c.3934C>G (p.Gln1312Glu)
c.7210C>G (n.7210C>G)
c.280-2222C>G
c.7432C>G (n.7432C>G)
n.2871C>G
c.7033C>G (p.Gln2345Glu)
c.7109C>G (n.7109C>G)
n.3681C>G
n.67+1905C>G
n.194C>G
c.6157C>G (p.Gln2053Glu)
c.7057C>G (p.Gln2353Glu)
c.6979C>G (p.Gln2327Glu)
c.6955C>G (p.Gln2319Glu)
c.6952C>G (p.Gln2318Glu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.154350912G>TCA415184667FLNAc.7129C>A (p.Gln2377Lys)
c.7153C>A (p.Gln2385Lys)
c.7072C>A (p.Gln2358Lys)
c.3934C>A (p.Gln1312Lys)
c.7210C>A (n.7210C>A)
c.280-2222C>A
c.7432C>A (n.7432C>A)
n.2871C>A
c.7033C>A (p.Gln2345Lys)
c.7109C>A (n.7109C>A)
n.3681C>A
n.67+1905C>A
n.194C>A
c.6157C>A (p.Gln2053Lys)
c.7057C>A (p.Gln2353Lys)
c.6979C>A (p.Gln2327Lys)
c.6955C>A (p.Gln2319Lys)
c.6952C>A (p.Gln2318Lys)
 dbSNP

Number of alleles fetched