| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.33189443C>T | CA363613446 | COL11A2 | c.109G>A (p.Ala37Thr) c.-738G>A (n.-738G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.33189443C>A | CA212610 | COL11A2 | c.109G>T (p.Ala37Ser) c.-738G>T (n.-738G>T) | ClinVar dbSNP |
| 6 | g.33189443C= | CA1619904458 | COL11A2 | c.109G= (p.Ala37=) c.-738G= (n.-738G=) | dbSNP |