| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.7125482C>T | CA124245 | INSR | c.3059G>A (p.Arg1020Gln) c.3023G>A (p.Arg1008Gln) c.3134G>A (p.Arg1045Gln) c.3098G>A (p.Arg1033Gln) c.3056G>A (p.Arg1019Gln) c.3020G>A (p.Arg1007Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 19 | g.7125482C= | CA2320767982 | INSR | c.3059G= (p.Arg1020=) c.3023G= (p.Arg1008=) c.3134G= (p.Arg1045=) c.3098G= (p.Arg1033=) c.3056G= (p.Arg1019=) c.3020G= (p.Arg1007=) | dbSNP |