| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.94410478C>G | CA368221253 | COL1A2 | c.1148C>G (p.Pro383Arg) c.1142C>G (p.Pro381Arg) | dbSNP gnomAD v2 |
| 7 | g.94410478C>A | CA260334 | COL1A2 | c.1148C>A (p.Pro383His) c.1142C>A (p.Pro381His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.94410478C>T | CA368221254 | COL1A2 | c.1148C>T (p.Pro383Leu) c.1142C>T (p.Pro381Leu) | dbSNP gnomAD v4 |
| 7 | g.94410478C= | CA1726753386 | COL1A2 | c.1148C= (p.Pro383=) c.1142C= (p.Pro381=) | dbSNP |