| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.77335884G>C | CA144839 | ADAMTS18 | c.1731C>G (p.Cys577Trp) c.1215C>G (p.Cys405Trp) c.495C>G (p.Cys165Trp) | ClinVar dbSNP gnomAD v4 |
| 16 | g.77335884G>A | CA284409685 | ADAMTS18 | c.1731C>T (p.Cys577=) c.1215C>T (p.Cys405=) c.495C>T (p.Cys165=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.77335884G= | CA2234406218 | ADAMTS18 | c.1731C= (p.Cys577=) c.1215C= (p.Cys405=) c.495C= (p.Cys165=) | dbSNP |