Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.65570525G>A | CA16617181 | LEPR | c.93G>A (p.Trp31Ter) c.-528G>A (n.-528G>A) n.243G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.65570525G>T | CA340671988 | LEPR | c.93G>T (p.Trp31Cys) c.-528G>T (n.-528G>T) n.243G>T | dbSNP |