Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.123707995C>A | CA068222 | MYLK | c.1942G>T (p.Asp648Tyr) c.2149G>T (p.Asp717Tyr) n.2043G>T c.2179G>T (p.Asp727Tyr) c.1387G>T (p.Asp463Tyr) c.*1728G>T (n.*1728G>T) c.1621G>T (p.Asp541Tyr) n.313+3986C>A n.406+3986C>A n.403+3986C>A n.230+3986C>A n.226+3986C>A c.1972G>T (p.Asp658Tyr) n.251+3986C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.123707995C>T | CA068219 | MYLK | c.1942G>A (p.Asp648Asn) c.2149G>A (p.Asp717Asn) n.2043G>A c.2179G>A (p.Asp727Asn) c.1387G>A (p.Asp463Asn) c.*1728G>A (n.*1728G>A) c.1621G>A (p.Asp541Asn) n.313+3986C>T n.406+3986C>T n.403+3986C>T n.230+3986C>T n.226+3986C>T c.1972G>A (p.Asp658Asn) n.251+3986C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |