| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.7267659C>A | CA403159951 | INSR | c.338G>T (p.Arg113Leu) n.313G>T c.416G>T (p.Arg139Leu) | dbSNP gnomAD v4 |
| 19 | g.7267659C>G | CA124255 | INSR | c.338G>C (p.Arg113Pro) n.313G>C c.416G>C (p.Arg139Pro) | ClinVar dbSNP |
| 19 | g.7267659C>T | CA403159953 | INSR | c.338G>A (p.Arg113Gln) n.313G>A c.416G>A (p.Arg139Gln) | dbSNP gnomAD v2 gnomAD v4 |