| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.65570758A>G | CA119672 | LEPR | c.326A>G (p.Lys109Arg) c.-295A>G (n.-295A>G) n.476A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.65570758A>T | CA340672999 | LEPR | c.326A>T (p.Lys109Met) c.-295A>T (n.-295A>T) n.476A>T | dbSNP gnomAD v4 |
| 1 | g.65570758A= | CA1139852976 | LEPR | c.326A= (p.Lys109=) c.-295A= (n.-295A=) n.476A= | dbSNP |