| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.118965553G>A | CA1118397811 | COLEC10 | c.-60+13175G>A (n.-60+13175G>A) c.-324+13175G>A (n.-324+13175G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.118965553G>C | CA12773500 | COLEC10 | c.-60+13175G>C (n.-60+13175G>C) c.-324+13175G>C (n.-324+13175G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |