| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.7152862G>A | CA124217 | INSR | c.2095C>T (p.Gln699Ter) n.2070C>T c.2173C>T (p.Gln725Ter) | ClinVar dbSNP |
| 19 | g.7152862G>C | CA9135666 | INSR | c.2095C>G (p.Gln699Glu) n.2070C>G c.2173C>G (p.Gln725Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.7152862G= | CA2320781047 | INSR | c.2095C= (p.Gln699=) n.2070C= c.2173C= (p.Gln725=) | dbSNP |