| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.47983435G>T | CA6535284 | COL2A1 | c.1792C>A (p.Leu598Ile) c.1999C>A (p.Leu667Ile) n.177C>A n.923C>A c.2143C>A (p.Leu715Ile) c.2140C>A (p.Leu714Ile) c.1087C>A (p.Leu363Ile) c.1933C>A (p.Leu645Ile) c.1453C>A (p.Leu485Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.47983435G>A | CA127165 | COL2A1 | c.1792C>T (p.Leu598Phe) c.1999C>T (p.Leu667Phe) n.177C>T n.923C>T c.2143C>T (p.Leu715Phe) c.2140C>T (p.Leu714Phe) c.1087C>T (p.Leu363Phe) c.1933C>T (p.Leu645Phe) c.1453C>T (p.Leu485Phe) | ClinVar dbSNP gnomAD v4 |
| 12 | g.47983435G= | CA2034451679 | COL2A1 | c.1792C= (p.Leu598=) c.1999C= (p.Leu667=) n.177C= n.923C= c.2143C= (p.Leu715=) c.2140C= (p.Leu714=) c.1087C= (p.Leu363=) c.1933C= (p.Leu645=) c.1453C= (p.Leu485=) | dbSNP |