Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.189006400G>ACA006135COL3A1c.3050G>A (p.Gly1017Asp)
c.3149G>A (p.Gly1050Asp)
c.2528-1654G>A (n.2528-1654G>A)
ClinVar dbSNP
2g.189006400G>TCA006143COL3A1c.3050G>T (p.Gly1017Val)
c.3149G>T (p.Gly1050Val)
c.2528-1654G>T (n.2528-1654G>T)
ClinVar dbSNP

Number of alleles fetched