Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.112061098C>TCA451900930CCN6c.156C>T (p.Cys52=)
c.60C>T (p.Cys20=)
c.210C>T (p.Cys70=)
c.-507-181C>T (n.-507-181C>T)
n.90C>T
n.346C>T
n.266C>T
c.219C>T (p.Cys73=)
c.294C>T (p.Cys98=)
n.694C>T
n.410C>T
n.237C>T
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.112061098C>ACA118180CCN6c.156C>A (p.Cys52Ter)
c.60C>A (p.Cys20Ter)
c.210C>A (p.Cys70Ter)
c.-507-181C>A (n.-507-181C>A)
n.90C>A
n.346C>A
n.266C>A
c.219C>A (p.Cys73Ter)
c.294C>A (p.Cys98Ter)
n.694C>A
n.410C>A
n.237C>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched