| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.76326989C>A | CA12055238 | SV2C | c.*1442C>A (n.*1442C>A) c.2000+25444C>A (n.2000+25444C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.76326989C= | CA1556501848 | SV2C | c.*1442C= (n.*1442C=) c.2000+25444C= (n.2000+25444C=) | dbSNP |