| 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 |
