Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.188999340G>TCA349840149COL3A1c.1979G>T (p.Gly660Val)
c.2078G>T (p.Gly693Val)
ClinVar dbSNP gnomAD v4
2g.188999340G>CCA004970COL3A1c.1979G>C (p.Gly660Ala)
c.2078G>C (p.Gly693Ala)
ClinVar dbSNP

Number of alleles fetched