| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.133570346G>A | CA339827 | ADAMTSL2 | c.2431G>A (p.Gly811Arg) c.2758G>A (p.Gly920Arg) c.2461G>A (p.Gly821Arg) c.2314G>A (p.Gly772Arg) c.2497G>A (p.Gly833Arg) c.2641G>A (p.Gly881Arg) | ClinVar dbSNP gnomAD v4 |
| 9 | g.133570346G= | CA1882725343 | ADAMTSL2 | c.2431G= (p.Gly811=) c.2758G= (p.Gly920=) c.2461G= (p.Gly821=) c.2314G= (p.Gly772=) c.2497G= (p.Gly833=) c.2641G= (p.Gly881=) | dbSNP |