| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.35814627C>T | CA251916 | LHFPL5 | c.494C>T (p.Thr165Met) n.273C>T c.*70-4810C>T (n.*70-4810C>T) c.326C>T (p.Thr109Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.35814627C= | CA1621066430 | LHFPL5 | c.494C= (p.Thr165=) n.273C= c.*70-4810C= (n.*70-4810C=) c.326C= (p.Thr109=) | dbSNP |