| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.133539799G>A | CA339825 | ADAMTSL2 | c.338G>A (p.Arg113His) c.665G>A (p.Arg222His) c.373G>A (p.Ala125Thr) c.226G>A (p.Ala76Thr) c.404G>A (p.Arg135His) c.553G>A (p.Ala185Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.133539799G>T | CA375402395 | ADAMTSL2 | c.338G>T (p.Arg113Leu) c.665G>T (p.Arg222Leu) c.373G>T (p.Ala125Ser) c.226G>T (p.Ala76Ser) c.404G>T (p.Arg135Leu) c.553G>T (p.Ala185Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |