| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.3524238C>T | CA16043106 | TRPV3 | c.1703G>A (p.Gly568Asp) c.965G>A c.*1695G>A (n.*1695G>A) c.*1713G>A (n.*1713G>A) c.328+2616G>A c.1655G>A (p.Gly552Asp) c.1577+2616G>A (n.1577+2616G>A) c.998G>A (p.Gly333Asp) c.656G>A (p.Gly219Asp) n.1777G>A | ClinVar dbSNP |
| 17 | g.3524238C>A | CA397681776 | TRPV3 | c.1703G>T (p.Gly568Val) c.965G>T c.*1695G>T (n.*1695G>T) c.*1713G>T (n.*1713G>T) c.328+2616G>T c.1655G>T (p.Gly552Val) c.1577+2616G>T (n.1577+2616G>T) c.998G>T (p.Gly333Val) c.656G>T (p.Gly219Val) n.1777G>T | ClinVar dbSNP |