| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.189004365G>A | CA005868 | COL3A1 | c.2832+1G>A (n.2832+1G>A) c.2931+1G>A (n.2931+1G>A) c.2527+1329G>A (n.2527+1329G>A) | ClinVar dbSNP |
| 2 | g.189004365G= | CA1315403212 | COL3A1 | c.2832+1G= (n.2832+1G=) c.2931+1G= (n.2931+1G=) c.2527+1329G= (n.2527+1329G=) | dbSNP |