| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.7119563C>G | CA124220 | INSR | c.3680G>C (p.Trp1227Ser) c.3644G>C (p.Trp1215Ser) c.3755G>C (p.Trp1252Ser) c.3719G>C (p.Trp1240Ser) c.3677G>C (p.Trp1226Ser) c.3641G>C (p.Trp1214Ser) | ClinVar dbSNP |
| 19 | g.7119563C>T | CA403669261 | INSR | c.3680G>A (p.Trp1227Ter) c.3644G>A (p.Trp1215Ter) c.3755G>A (p.Trp1252Ter) c.3719G>A (p.Trp1240Ter) c.3677G>A (p.Trp1226Ter) c.3641G>A (p.Trp1214Ter) | dbSNP gnomAD v2 COSMIC COSMIC |