Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.189043177C>GCA281080COL5A2c.3445G>C (p.Gly1149Arg)
c.2284G>C (p.Gly762Arg)
c.3307G>C (p.Gly1103Arg)
ClinVar dbSNP ExAC gnomAD v2
2g.189043177C=CA1315416237COL5A2c.3445G= (p.Gly1149=)
c.2284G= (p.Gly762=)
c.3307G= (p.Gly1103=)
dbSNP

Number of alleles fetched