| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.178413381C>T | CA16250488 | COL23A1 | c.362-106462G>A (n.362-106462G>A) c.-69-106462G>A (n.-69-106462G>A) c.80-106462G>A (n.80-106462G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.178413381C= | CA1604064794 | COL23A1 | c.362-106462G= (n.362-106462G=) c.-69-106462G= (n.-69-106462G=) c.80-106462G= (n.80-106462G=) | dbSNP |