| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.7166365C>G | CA9135773 | INSR | c.1650G>C (p.Ala550=) n.1625G>C c.51G>C (p.Ala17=) c.1728G>C (p.Ala576=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.7166365C>T | CA203559 | INSR | c.1650G>A (p.Ala550=) n.1625G>A c.51G>A (p.Ala17=) c.1728G>A (p.Ala576=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.7166365C= | CA2320788277 | INSR | c.1650G= (p.Ala550=) n.1625G= c.51G= (p.Ala17=) c.1728G= (p.Ala576=) | dbSNP |
| 19 | g.7166365C>A | CA505199645 | INSR | c.1650G>T (p.Ala550=) n.1625G>T c.51G>T (p.Ala17=) c.1728G>T (p.Ala576=) | dbSNP gnomAD v4 |