Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.7267559G>C | CA124271 | INSR | c.438C>G (p.Ile146Met) n.413C>G c.516C>G (p.Ile172Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.7267559G= | CA2320836460 | INSR | c.438C= (p.Ile146=) n.413C= c.516C= (p.Ile172=) | dbSNP |
19 | g.7267559G>A | CA505481831 | INSR | c.438C>T (p.Ile146=) n.413C>T c.516C>T (p.Ile172=) | dbSNP gnomAD v4 |