| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.70758253A>T | CA209416137 | ADAMTS14 | c.3146A>T (p.Glu1049Val) c.3155A>T (p.Glu1052Val) c.2645A>T (p.Glu882Val) c.2219A>T (p.Glu740Val) c.1715A>T (p.Glu572Val) | dbSNP |
| 10 | g.70758253A>G | CA5540347 | ADAMTS14 | c.3146A>G (p.Glu1049Gly) c.3155A>G (p.Glu1052Gly) c.2645A>G (p.Glu882Gly) c.2219A>G (p.Glu740Gly) c.1715A>G (p.Glu572Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |