| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.134843036C>T | CA201120633 | COL5A1 | c.*733C>T (n.*733C>T) n.71-22827G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.134843036C>A | CA10626832 | COL5A1 | c.*733C>A (n.*733C>A) n.71-22827G>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.134843036C>G | CA201120642 | COL5A1 | c.*733C>G (n.*733C>G) n.71-22827G>C | dbSNP gnomAD v3 gnomAD v4 |