| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.50190334C>G | CA291543364 | COL1A1 | c.2444G>C (p.Gly815Ala) n.371G>C c.1526G>C (p.Gly509Ala) c.2246G>C (p.Gly749Ala) | ClinVar dbSNP |
| 17 | g.50190334C>A | CA257872 | COL1A1 | c.2444G>T (p.Gly815Val) n.371G>T c.1526G>T (p.Gly509Val) c.2246G>T (p.Gly749Val) | ClinVar dbSNP |
| 17 | g.50190334C>T | CA400207920 | COL1A1 | c.2444G>A (p.Gly815Asp) n.371G>A c.1526G>A (p.Gly509Asp) c.2246G>A (p.Gly749Asp) | ClinVar dbSNP gnomAD v4 |
| 17 | g.50190334C= | CA2263916157 | COL1A1 | c.2444G= (p.Gly815=) n.371G= c.1526G= (p.Gly509=) c.2246G= (p.Gly749=) | dbSNP |