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 |