| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.50191457G>A | CA260290 | COL1A1 | c.2161C>T (p.Gln721Ter) n.510C>T c.1243C>T (p.Gln415Ter) c.1963C>T (p.Gln655Ter) | ClinVar dbSNP |
| 17 | g.50191457G>C | CA400211285 | COL1A1 | c.2161C>G (p.Gln721Glu) n.510C>G c.1243C>G (p.Gln415Glu) c.1963C>G (p.Gln655Glu) | dbSNP gnomAD v4 |
| 17 | g.50191457G= | CA2263916656 | COL1A1 | c.2161C= (p.Gln721=) n.510C= c.1243C= (p.Gln415=) c.1963C= (p.Gln655=) | dbSNP |