Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.55488288G>T | CA2223712945 | MMP2 | c.833-255G>T (n.833-255G>T) c.683-255G>T (n.683-255G>T) c.605-255G>T (n.605-255G>T) | dbSNP gnomAD v4 |
16 | g.55488288G>C | CA14247544 | MMP2 | c.833-255G>C (n.833-255G>C) c.683-255G>C (n.683-255G>C) c.605-255G>C (n.605-255G>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |