| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.189006965G>T | CA006214 | COL3A1 | c.3131G>T (p.Gly1044Val) c.3230G>T (p.Gly1077Val) c.2528-1089G>T (n.2528-1089G>T) | ClinVar dbSNP |
| 2 | g.189006965G= | CA1315404360 | COL3A1 | c.3131G= (p.Gly1044=) c.3230G= (p.Gly1077=) c.2528-1089G= (n.2528-1089G=) | dbSNP |