| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.7901146C>G | CA739144090 | UTS2 | c.-75+12035G>C (n.-75+12035G>C) | dbSNP |
| 1 | g.7901146C>A | CA998319732 | UTS2 | c.-75+12035G>T (n.-75+12035G>T) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.7901146C>T | CA10798961 | UTS2 | c.-75+12035G>A (n.-75+12035G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |