| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.128254557G>T | CA175034 | LEP | c.298G>T (p.Asp100Tyr) c.295G>T (p.Asp99Tyr) | ClinVar dbSNP |
| 7 | g.128254557G>A | CA4469690 | LEP | c.298G>A (p.Asp100Asn) c.295G>A (p.Asp99Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 7 | g.128254557G= | CA1742271705 | LEP | c.298G= (p.Asp100=) c.295G= (p.Asp99=) | dbSNP |