Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.188999471G>CCA16604062COL3A1c.2024G>C (p.Gly675Ala)
c.2123G>C (p.Gly708Ala)
ClinVar dbSNP gnomAD v4
2g.188999471G>TCA005071COL3A1c.2024G>T (p.Gly675Val)
c.2123G>T (p.Gly708Val)
ClinVar dbSNP
2g.188999471G>ACA62554598COL3A1c.2024G>A (p.Gly675Asp)
c.2123G>A (p.Gly708Asp)
ClinVar dbSNP

Number of alleles fetched