Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.189098753C>TCA322643COL5A2c.376G>A (p.Gly126Ser)
c.238G>A (p.Gly80Ser)
c.-255G>A (n.-255G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189098753C=CA1315445916COL5A2c.376G= (p.Gly126=)
c.238G= (p.Gly80=)
c.-255G= (n.-255G=)
 dbSNP

Number of alleles fetched