| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.50191853G>A | CA260287 | COL1A1 | c.2062C>T (p.Gln688Ter) n.411C>T c.1144C>T (p.Gln382Ter) c.1864C>T (p.Gln622Ter) | ClinVar dbSNP gnomAD v4 |
| 17 | g.50191853G>C | CA400211889 | COL1A1 | c.2062C>G (p.Gln688Glu) n.411C>G c.1144C>G (p.Gln382Glu) c.1864C>G (p.Gln622Glu) | dbSNP |
| 17 | g.50191853G= | CA2263916864 | COL1A1 | c.2062C= (p.Gln688=) n.411C= c.1144C= (p.Gln382=) c.1864C= (p.Gln622=) | dbSNP |