| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.50188134C>A | CA400200225 | COL1A1 | c.3223G>T (p.Ala1075Ser) n.421G>T n.547G>T c.2953G>T (p.Ala985Ser) c.2305G>T (p.Ala769Ser) c.3025G>T (p.Ala1009Ser) | ClinVar dbSNP gnomAD v4 |
| 17 | g.50188134C>T | CA16607365 | COL1A1 | c.3223G>A (p.Ala1075Thr) n.421G>A n.547G>A c.2953G>A (p.Ala985Thr) c.2305G>A (p.Ala769Thr) c.3025G>A (p.Ala1009Thr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.50188134C= | CA8644520 | COL1A1 | c.3223G= (p.Ala1075=) n.421G= n.547G= c.2953G= (p.Ala985=) c.2305G= (p.Ala769=) c.3025G= (p.Ala1009=) | ClinVar dbSNP |
| 17 | g.50188134C>G | CA400200231 | COL1A1 | c.3223G>C (p.Ala1075Pro) n.421G>C n.547G>C c.2953G>C (p.Ala985Pro) c.2305G>C (p.Ala769Pro) c.3025G>C (p.Ala1009Pro) | ClinVar dbSNP |