Chr Mutation (hg38) CAid Gene Transcript Linkouts
21g.46003475G>ACA147380COL6A1n.948G>A
c.675G>A
c.2549G>A (p.Arg850His)
n.337G>A
n.783G>A
c.2543G>A (p.Arg848His)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.46003475G>TCA410539517COL6A1n.948G>T
c.675G>T
c.2549G>T (p.Arg850Leu)
n.337G>T
n.783G>T
c.2543G>T (p.Arg848Leu)
dbSNP

Number of alleles fetched