| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.98911384G>A | CA124316 | IGF1R | c.1532G>A (p.Arg511Gln) c.623G>A (p.Arg208Gln) n.439G>A n.1532G>A c.1595G>A (p.Arg532Gln) c.197G>A (p.Arg66Gln) c.1607G>A (p.Arg536Gln) c.1169G>A (p.Arg390Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.98911384G>C | CA393677959 | IGF1R | c.1532G>C (p.Arg511Pro) c.623G>C (p.Arg208Pro) n.439G>C n.1532G>C c.1595G>C (p.Arg532Pro) c.197G>C (p.Arg66Pro) c.1607G>C (p.Arg536Pro) c.1169G>C (p.Arg390Pro) | dbSNP |