Chr Mutation (hg38) CAid Gene Transcript Linkouts
7g.94423102G>CCA368224141COL1A2c.2549G>C (p.Gly850Ala)
n.632G>C
n.946G>C
c.2543G>C (p.Gly848Ala)
dbSNP gnomAD v4
7g.94423102G>ACA16043430COL1A2c.2549G>A (p.Gly850Glu)
n.632G>A
n.946G>A
c.2543G>A (p.Gly848Glu)
ClinVar dbSNP

Number of alleles fetched