| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.65592830A>G | CA119663 | LEPR | c.668A>G (p.Gln223Arg) c.-127+20381A>G (n.-127+20381A>G) n.818A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.65592830A>T | CA340678382 | LEPR | c.668A>T (p.Gln223Leu) c.-127+20381A>T (n.-127+20381A>T) n.818A>T | dbSNP |
| 1 | g.65592830A= | CA1139853254 | LEPR | c.668A= (p.Gln223=) c.-127+20381A= (n.-127+20381A=) n.818A= | dbSNP |
| 1 | g.65592830A>C | CA340678381 | LEPR | c.668A>C (p.Gln223Pro) c.-127+20381A>C (n.-127+20381A>C) n.818A>C | dbSNP gnomAD v4 |