| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.94421055G>T | CA16605414 | COL1A2 | c.2342G>T (p.Gly781Val) n.431G>T n.679G>T n.739G>T c.2336G>T (p.Gly779Val) | ClinVar dbSNP |
| 7 | g.94421055G>A | CA368223741 | COL1A2 | c.2342G>A (p.Gly781Asp) n.431G>A n.679G>A n.739G>A c.2336G>A (p.Gly779Asp) | ClinVar dbSNP |
| 7 | g.94421055G= | CA1726773336 | COL1A2 | c.2342G= (p.Gly781=) n.431G= n.679G= n.739G= c.2336G= (p.Gly779=) | dbSNP |
| 7 | g.94421055G>C | CA368223740 | COL1A2 | c.2342G>C (p.Gly781Ala) n.431G>C n.679G>C n.739G>C c.2336G>C (p.Gly779Ala) | dbSNP gnomAD v4 |