| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.50198459C>A | CA260317 | COL1A1 | c.517G>T (p.Gly173Ter) n.244G>T | ClinVar dbSNP |
| 17 | g.50198459C>T | CA8645683 | COL1A1 | c.517G>A (p.Gly173Arg) n.244G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.50198459C>G | CA400226139 | COL1A1 | c.517G>C (p.Gly173Arg) n.244G>C | dbSNP gnomAD v4 |