Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.226795828C>G | CA350844568 | IRS1 | c.2911G>C (p.Gly971Arg) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.226795828C>T | CA128619 | IRS1 | c.2911G>A (p.Gly971Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.226795828C>A | CA350844567 | IRS1 | c.2911G>T (p.Gly971Trp) | dbSNP gnomAD v3 gnomAD v4 |