| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.65636397C>T | CA895184 | LEPR | c.2880C>T (p.Asn960=) c.81C>T (p.Asn27=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.65636397C>G | CA214124 | LEPR | c.2880C>G (p.Asn960Lys) c.81C>G (p.Asn27Lys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.65636397C= | CA1143355231 | LEPR | c.2880C= (p.Asn960=) c.81C= (p.Asn27=) | dbSNP |