| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.94427714G>C | CA260370 | COL1A2 | c.3355G>C (p.Ala1119Pro) n.403G>C n.4136G>C c.3349G>C (p.Ala1117Pro) | ClinVar dbSNP |
| 7 | g.94427714G= | CA1726785800 | COL1A2 | c.3355G= (p.Ala1119=) n.403G= n.4136G= c.3349G= (p.Ala1117=) | dbSNP |
| 7 | g.94427714G>A | CA368225797 | COL1A2 | c.3355G>A (p.Ala1119Thr) n.403G>A n.4136G>A c.3349G>A (p.Ala1117Thr) | ClinVar dbSNP COSMIC |
| 7 | g.94427714G>T | CA368225798 | COL1A2 | c.3355G>T (p.Ala1119Ser) n.403G>T n.4136G>T c.3349G>T (p.Ala1117Ser) | dbSNP |