| 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 |
