Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.65546473G>ACA6100654LTBP3c.*1585C>T (n.*1585C>T)
c.1467C>T (p.Tyr489=)
c.2055C>T (p.Tyr685=)
n.1994C>T
n.845C>T
c.2199C>T (p.Tyr733=)
c.2322C>T (p.Tyr774=)
c.1273C>T
c.342C>T (p.Tyr114=)
c.*1967C>T (n.*1967C>T)
c.-670C>T (n.-670C>T)
c.612C>T (p.Tyr204=)
c.1971C>T (p.Tyr657=)
c.2349C>T (p.Tyr783=)
n.2749C>T
n.2772C>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.65546473G>CCA118879LTBP3c.*1585C>G (n.*1585C>G)
c.1467C>G (p.Tyr489Ter)
c.2055C>G (p.Tyr685Ter)
n.1994C>G
n.845C>G
c.2199C>G (p.Tyr733Ter)
c.2322C>G (p.Tyr774Ter)
c.1273C>G
c.342C>G (p.Tyr114Ter)
c.*1967C>G (n.*1967C>G)
c.-670C>G (n.-670C>G)
c.612C>G (p.Tyr204Ter)
c.1971C>G (p.Tyr657Ter)
c.2349C>G (p.Tyr783Ter)
n.2749C>G
n.2772C>G
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched