| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.7120739C>T | CA124266 | INSR | c.3540G>A (p.Met1180Ile) c.3504G>A (p.Met1168Ile) n.451G>A c.3615G>A (p.Met1205Ile) c.3579G>A (p.Met1193Ile) c.3537G>A (p.Met1179Ile) c.3501G>A (p.Met1167Ile) | ClinVar dbSNP |
| 19 | g.7120739C>A | CA403669576 | INSR | c.3540G>T (p.Met1180Ile) c.3504G>T (p.Met1168Ile) n.451G>T c.3615G>T (p.Met1205Ile) c.3579G>T (p.Met1193Ile) c.3537G>T (p.Met1179Ile) c.3501G>T (p.Met1167Ile) | dbSNP gnomAD v4 |
| 19 | g.7120739C= | CA2320765546 | INSR | c.3540G= (p.Met1180=) c.3504G= (p.Met1168=) n.451G= c.3615G= (p.Met1205=) c.3579G= (p.Met1193=) c.3537G= (p.Met1179=) c.3501G= (p.Met1167=) | dbSNP |
| 19 | g.7120739C>G | CA403669577 | INSR | c.3540G>C (p.Met1180Ile) c.3504G>C (p.Met1168Ile) n.451G>C c.3615G>C (p.Met1205Ile) c.3579G>C (p.Met1193Ile) c.3537G>C (p.Met1179Ile) c.3501G>C (p.Met1167Ile) | dbSNP |