| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.36900741G>A | CA11926560 | NIPBL | c.-80+23563G>A (n.-80+23563G>A) c.-1+23719G>A (n.-1+23719G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.36900741G>T | CA1539564010 | NIPBL | c.-80+23563G>T (n.-80+23563G>T) c.-1+23719G>T (n.-1+23719G>T) | dbSNP |