Chr Mutation (hg38) CAid Gene Transcript Linkouts
21g.45998399G>ACA410530203COL6A1n.352G>A
c.1577G>A (p.Gly526Glu)
dbSNP gnomAD v2 gnomAD v4
21g.45998399G>TCA257732COL6A1n.352G>T
c.1577G>T (p.Gly526Val)
ClinVar dbSNP

Number of alleles fetched