| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.50195937C>T | CA260267 | COL1A1 | c.1042G>A (p.Ala348Thr) c.957+377G>A (n.957+377G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.50195937C>G | CA400220998 | COL1A1 | c.1042G>C (p.Ala348Pro) c.957+377G>C (n.957+377G>C) | dbSNP |
| 17 | g.50195937C= | CA2263918991 | COL1A1 | c.1042G= (p.Ala348=) c.957+377G= (n.957+377G=) | dbSNP |