Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.226796916G>A | CA2143230 | IRS1 | c.1823C>T (p.Thr608Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.226796916G>T | CA350849128 | IRS1 | c.1823C>A (p.Thr608Lys) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.226796916G>C | CA128621 | IRS1 | c.1823C>G (p.Thr608Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |