| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.98707732C>A | CA275819384 | IGF1R | c.265C>A (p.Arg89=) n.265C>A c.340C>A (p.Arg114=) c.-99C>A (n.-99C>A) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.98707732C>T | CA124311 | IGF1R | c.265C>T (p.Arg89Ter) n.265C>T c.340C>T (p.Arg114Ter) c.-99C>T (n.-99C>T) | ClinVar dbSNP gnomAD v4 |
| 15 | g.98707732C= | CA2199177334 | IGF1R | c.265C= (p.Arg89=) n.265C= c.340C= (p.Arg114=) c.-99C= (n.-99C=) | dbSNP |