| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.98922244C>A | CA492338952 | IGF1R | c.2298C>A (p.Thr766=) n.489C>A c.2361C>A (p.Thr787=) c.1389C>A (p.Thr463=) c.963C>A (p.Thr321=) c.2373C>A (p.Thr791=) c.1935C>A (p.Thr645=) | dbSNP |
| 15 | g.98922244C>T | CA200789 | IGF1R | c.2298C>T (p.Thr766=) n.489C>T c.2361C>T (p.Thr787=) c.1389C>T (p.Thr463=) c.963C>T (p.Thr321=) c.2373C>T (p.Thr791=) c.1935C>T (p.Thr645=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |