| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.134842570C>T | CA10632909 | COL5A1 | c.*267C>T (n.*267C>T) n.71-22361G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.134842570C= | CA1883396995 | COL5A1 | c.*267C= (n.*267C=) n.71-22361G= | dbSNP |
| 9 | g.134842570C>G | CA2580597945 | COL5A1 | c.*267C>G (n.*267C>G) n.71-22361G>C | dbSNP gnomAD v4 |