| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.638144G>C | CA1233161533 | c.*572+760G>C (n.*572+760G>C) | dbSNP | |
| 2 | g.638144G>A | CA1233161535 | c.*572+760G>A (n.*572+760G>A) | dbSNP | |
| 2 | g.638144G>T | CA11105647 | c.*572+760G>T (n.*572+760G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 | |
| 2 | g.638144G= | CA1233161534 | c.*572+760G= (n.*572+760G=) | dbSNP |