| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.134842259C>T | CA16042686 | COL5A1 | c.5473C>T (p.Gln1825Ter) n.71-22050G>A | ClinVar dbSNP |
| 9 | g.134842259C= | CA1883396655 | COL5A1 | c.5473C= (p.Gln1825=) n.71-22050G= | dbSNP |
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.134842259C>T | CA16042686 | COL5A1 | c.5473C>T (p.Gln1825Ter) n.71-22050G>A | ClinVar dbSNP |
| 9 | g.134842259C= | CA1883396655 | COL5A1 | c.5473C= (p.Gln1825=) n.71-22050G= | dbSNP |