| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.133540625C>A | CA375404236 | ADAMTSL2 | c.440C>A (p.Pro147Gln) c.767C>A (p.Pro256Gln) c.475C>A (p.Arg159Ser) c.328C>A (p.Arg110Ser) c.506C>A (p.Pro169Gln) c.655C>A (p.Arg219Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.133540625C>T | CA339824 | ADAMTSL2 | c.440C>T (p.Pro147Leu) c.767C>T (p.Pro256Leu) c.475C>T (p.Arg159Cys) c.328C>T (p.Arg110Cys) c.506C>T (p.Pro169Leu) c.655C>T (p.Arg219Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |