| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.102232043C>T | CA118564 | GBF1,PITX3 | c.38G>A (p.Ser13Asn) c.56G>A (p.Ser19Asn) c.-11+1127C>T (n.-11+1127C>T) c.-149+1127C>T (n.-149+1127C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.102232043C= | CA1932539890 | GBF1,PITX3 | c.38G= (p.Ser13=) c.56G= (p.Ser19=) c.-11+1127C= (n.-11+1127C=) c.-149+1127C= (n.-149+1127C=) | dbSNP |