| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.189052945C>T | CA10588328 | COL5A2 | c.2627G>A (p.Gly876Glu) c.1466G>A (p.Gly489Glu) c.2489G>A (p.Gly830Glu) | ClinVar dbSNP |
| 2 | g.189052945C= | CA1315426044 | COL5A2 | c.2627G= (p.Gly876=) c.1466G= (p.Gly489=) c.2489G= (p.Gly830=) | dbSNP |
| 2 | g.189052945C>G | CA349871059 | COL5A2 | c.2627G>C (p.Gly876Ala) c.1466G>C (p.Gly489Ala) c.2489G>C (p.Gly830Ala) | dbSNP gnomAD v4 |