| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.94413927C>G | CA4347144 | COL1A2 | c.1645C>G (p.Pro549Ala) n.69C>G c.1639C>G (p.Pro547Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.94413927C>A | CA4347145 | COL1A2 | c.1645C>A (p.Pro549Thr) n.69C>A c.1639C>A (p.Pro547Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.94413927C>T | CA4347146 | COL1A2 | c.1645C>T (p.Pro549Ser) n.69C>T c.1639C>T (p.Pro547Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |