| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.33173522G>T | CA248587 | COL11A2 | c.1235C>A c.2662C>A (p.Pro888Thr) c.2341C>A (p.Pro781Thr) c.2404C>A (p.Pro802Thr) n.272+3487C>A c.1816C>A (p.Pro606Thr) c.1948C>A (p.Pro650Thr) c.1768C>A (p.Pro590Thr) c.1705C>A (p.Pro569Thr) c.1549C>A (p.Pro517Thr) c.1480C>A (p.Pro494Thr) | ClinVar dbSNP gnomAD v4 |
| 6 | g.33173522G= | CA1619897962 | COL11A2 | c.1235C= c.2662C= (p.Pro888=) c.2341C= (p.Pro781=) c.2404C= (p.Pro802=) n.272+3487C= c.1816C= (p.Pro606=) c.1948C= (p.Pro650=) c.1768C= (p.Pro590=) c.1705C= (p.Pro569=) c.1549C= (p.Pro517=) c.1480C= (p.Pro494=) | dbSNP |