| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.8589302C>A | CA251991 | ADAMTS10 | c.2098G>T (p.Gly700Cys) c.*189G>T (n.*189G>T) c.*975G>T (n.*975G>T) c.559G>T (p.Gly187Cys) c.*1233G>T (n.*1233G>T) n.304G>T c.994G>T (p.Gly332Cys) c.667G>T (p.Gly223Cys) c.661G>T (p.Gly221Cys) n.2357G>T n.2363G>T n.2923G>T | ClinVar dbSNP |
| 19 | g.8589302C>T | CA9160227 | ADAMTS10 | c.2098G>A (p.Gly700Ser) c.*189G>A (n.*189G>A) c.*975G>A (n.*975G>A) c.559G>A (p.Gly187Ser) c.*1233G>A (n.*1233G>A) n.304G>A c.994G>A (p.Gly332Ser) c.667G>A (p.Gly223Ser) c.661G>A (p.Gly221Ser) n.2357G>A n.2363G>A n.2923G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |