| 17 | g.50190869C>G | CA400210193 | COL1A1 | c.2291G>C (p.Gly764Ala)
n.56G>C
c.1373G>C (p.Gly458Ala)
c.2093G>C (p.Gly698Ala)
| ClinVar dbSNP |
| 17 | g.50190869C>A | CA257908 | COL1A1 | c.2291G>T (p.Gly764Val)
n.56G>T
c.1373G>T (p.Gly458Val)
c.2093G>T (p.Gly698Val)
| ClinVar dbSNP |
