| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.7125286G>A | CA201311 | INSR | c.3255C>T (p.His1085=) c.3219C>T (p.His1073=) n.101C>T c.3330C>T (p.His1110=) c.3294C>T (p.His1098=) c.3252C>T (p.His1084=) c.3216C>T (p.His1072=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.7125286G= | CA2320767904 | INSR | c.3255C= (p.His1085=) c.3219C= (p.His1073=) n.101C= c.3330C= (p.His1110=) c.3294C= (p.His1098=) c.3252C= (p.His1084=) c.3216C= (p.His1072=) | dbSNP |