| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.7170648T>C | CA124275 | INSR | c.1372A>G (p.Asn458Asp) n.1347A>G c.1450A>G (p.Asn484Asp) | ClinVar dbSNP gnomAD v4 |
| 19 | g.7170648T= | CA2320790036 | INSR | c.1372A= (p.Asn458=) n.1347A= c.1450A= (p.Asn484=) | dbSNP |
| 19 | g.7170648T>A | CA403667296 | INSR | c.1372A>T (p.Asn458Tyr) n.1347A>T c.1450A>T (p.Asn484Tyr) | dbSNP |