| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.50184491A>T | CA2263913078 | COL1A1 | c.*1011T>A (n.*1011T>A) | dbSNP |
| 17 | g.50184491A>G | CA291542630 | COL1A1 | c.*1011T>C (n.*1011T>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.50184491A= | CA2263913077 | COL1A1 | c.*1011T= (n.*1011T=) | dbSNP |