Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.47986353C>ACA250682COL2A1c.1510G>T (p.Gly504Cys)
c.1303G>T (p.Gly435Cys)
c.1654G>T (p.Gly552Cys)
c.1651G>T (p.Gly551Cys)
c.598G>T (p.Gly200Cys)
c.1444G>T (p.Gly482Cys)
c.964G>T (p.Gly322Cys)
n.1303G>T (p.Gly435Cys)
n.434G>T
ClinVar dbSNP COSMIC COSMIC
12g.47986353C>TCA251240COL2A1c.1510G>A (p.Gly504Ser)
c.1303G>A (p.Gly435Ser)
c.1654G>A (p.Gly552Ser)
c.1651G>A (p.Gly551Ser)
c.598G>A (p.Gly200Ser)
c.1444G>A (p.Gly482Ser)
c.964G>A (p.Gly322Ser)
n.1303G>A (p.Gly435Ser)
n.434G>A
ClinVar dbSNP gnomAD

Number of alleles fetched