| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.25161572C>G | CA346067325 | POMC | c.313G>C (p.Glu105Gln) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 2 | g.25161572C>T | CA43684814 | POMC | c.313G>A (p.Glu105Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.25161572C>A | CA256767 | POMC | c.313G>T (p.Glu105Ter) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.25161572C= | CA1239227835 | POMC | c.313G= (p.Glu105=) | dbSNP |