Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
15 | g.83913372G>A | CA7705243 | ADAMTSL3 | c.1981G>A (p.Val661Met) n.2196G>A c.2062G>A (p.Val688Met) n.2095G>A c.1486G>A (p.Val496Met) n.2277G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.83913372G>T | CA7705242 | ADAMTSL3 | c.1981G>T (p.Val661Leu) n.2196G>T c.2062G>T (p.Val688Leu) n.2095G>T c.1486G>T (p.Val496Leu) n.2277G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |