| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.134818707C>T | CA324515 | COL5A1 | c.4282C>T (p.Gln1428Ter) n.4684C>T n.4680C>T | ClinVar dbSNP |
| 9 | g.134818707C>G | CA375457228 | COL5A1 | c.4282C>G (p.Gln1428Glu) n.4684C>G n.4680C>G | ClinVar dbSNP gnomAD v4 |
| 9 | g.134818707C= | CA1883368872 | COL5A1 | c.4282C= (p.Gln1428=) n.4684C= n.4680C= | dbSNP |