Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.189043231C>ACA2022005COL5A2c.3391G>T (p.Gly1131Cys)
c.2230G>T (p.Gly744Cys)
c.3253G>T (p.Gly1085Cys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189043231C>TCA325060COL5A2c.3391G>A (p.Gly1131Ser)
c.2230G>A (p.Gly744Ser)
c.3253G>A (p.Gly1085Ser)
ClinVar dbSNP COSMIC

Number of alleles fetched