| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.7184592A>G | CA304866694 | INSR | c.698T>C (p.Leu233Pro) n.673T>C c.776T>C (p.Leu259Pro) | dbSNP gnomAD v4 |
| 19 | g.7184592A>C | CA403670567 | INSR | c.698T>G (p.Leu233Arg) n.673T>G c.776T>G (p.Leu259Arg) | ClinVar dbSNP gnomAD v4 |
| 19 | g.7184592A= | CA2320796348 | INSR | c.698T= (p.Leu233=) n.673T= c.776T= (p.Leu259=) | dbSNP |