| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.7120677C>T | CA124264 | INSR | c.3602G>A (p.Arg1201Gln) c.3566G>A (p.Arg1189Gln) n.513G>A c.3677G>A (p.Arg1226Gln) c.3641G>A (p.Arg1214Gln) c.3599G>A (p.Arg1200Gln) c.3563G>A (p.Arg1188Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.7120677C= | CA2320765523 | INSR | c.3602G= (p.Arg1201=) c.3566G= (p.Arg1189=) n.513G= c.3677G= (p.Arg1226=) c.3641G= (p.Arg1214=) c.3599G= (p.Arg1200=) c.3563G= (p.Arg1188=) | dbSNP |