| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.7170554T>C | CA124241 | INSR | c.1466A>G (p.Asn489Ser) n.1441A>G c.1544A>G (p.Asn515Ser) | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
| 19 | g.7170554T= | CA2320790004 | INSR | c.1466A= (p.Asn489=) n.1441A= c.1544A= (p.Asn515=) | dbSNP |
| 19 | g.7170554T>A | CA403667084 | INSR | c.1466A>T (p.Asn489Ile) n.1441A>T c.1544A>T (p.Asn515Ile) | dbSNP gnomAD v4 |