| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.7125462G>A | CA124233 | INSR | c.3079C>T (p.Arg1027Ter) c.3043C>T (p.Arg1015Ter) c.3154C>T (p.Arg1052Ter) c.3118C>T (p.Arg1040Ter) c.3076C>T (p.Arg1026Ter) c.3040C>T (p.Arg1014Ter) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.7125462G= | CA2320767972 | INSR | c.3079C= (p.Arg1027=) c.3043C= (p.Arg1015=) c.3154C= (p.Arg1052=) c.3118C= (p.Arg1040=) c.3076C= (p.Arg1026=) c.3040C= (p.Arg1014=) | dbSNP |