| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.189008952G>T | CA006657 | COL3A1 | c.3455G>T (p.Gly1152Val) c.3554G>T (p.Gly1185Val) c.2645G>T (p.Gly882Val) n.651G>T | ClinVar dbSNP |
| 2 | g.189008952G>A | CA006649 | COL3A1 | c.3455G>A (p.Gly1152Asp) c.3554G>A (p.Gly1185Asp) c.2645G>A (p.Gly882Asp) n.651G>A | ClinVar dbSNP |
| 2 | g.189008952G>C | CA349846628 | COL3A1 | c.3455G>C (p.Gly1152Ala) c.3554G>C (p.Gly1185Ala) c.2645G>C (p.Gly882Ala) n.651G>C | dbSNP gnomAD v4 |
| 2 | g.189008952G= | CA1315405490 | COL3A1 | c.3455G= (p.Gly1152=) c.3554G= (p.Gly1185=) c.2645G= (p.Gly882=) n.651G= | dbSNP |