Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.237395121G>ACA222591COL6A3c.91+1606C>T (n.91+1606C>T)
n.85+1606C>T
c.175C>T (p.Arg59Ter)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237395121G=CA1337633334COL6A3c.91+1606C= (n.91+1606C=)
n.85+1606C=
c.175C= (p.Arg59=)
dbSNP

Number of alleles fetched