| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.134767009G>T | CA16612612 | COL5A1 | c.2143G>T (p.Gly715Ter) n.2545G>T n.2541G>T | ClinVar dbSNP COSMIC |
| 9 | g.134767009G= | CA1883357871 | COL5A1 | c.2143G= (p.Gly715=) n.2545G= n.2541G= | dbSNP |
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.134767009G>T | CA16612612 | COL5A1 | c.2143G>T (p.Gly715Ter) n.2545G>T n.2541G>T | ClinVar dbSNP COSMIC |
| 9 | g.134767009G= | CA1883357871 | COL5A1 | c.2143G= (p.Gly715=) n.2545G= n.2541G= | dbSNP |