| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.7120707C>T | CA124248 | INSR | c.3572G>A (p.Arg1191Gln) c.3536G>A (p.Arg1179Gln) n.483G>A c.3647G>A (p.Arg1216Gln) c.3611G>A (p.Arg1204Gln) c.3569G>A (p.Arg1190Gln) c.3533G>A (p.Arg1178Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.7120707C= | CA2320765537 | INSR | c.3572G= (p.Arg1191=) c.3536G= (p.Arg1179=) n.483G= c.3647G= (p.Arg1216=) c.3611G= (p.Arg1204=) c.3569G= (p.Arg1190=) c.3533G= (p.Arg1178=) | dbSNP |