| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.50191408C>G | CA400210916 | COL1A1 | c.2210G>C (p.Gly737Ala) n.559G>C c.1292G>C (p.Gly431Ala) c.2012G>C (p.Gly671Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.50191408C>T | CA257821 | COL1A1 | c.2210G>A (p.Gly737Asp) n.559G>A c.1292G>A (p.Gly431Asp) c.2012G>A (p.Gly671Asp) | ClinVar dbSNP |
| 17 | g.50191408C= | CA2263916631 | COL1A1 | c.2210G= (p.Gly737=) n.559G= c.1292G= (p.Gly431=) c.2012G= (p.Gly671=) | dbSNP |