| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.50302132T>A | CA260759810 | L2HGDH | c.293A>T (p.His98Leu) c.*156A>T (n.*156A>T) n.433A>T c.182A>T (p.His61Leu) c.158A>T (p.His53Leu) n.532A>T c.-333A>T (n.-333A>T) | dbSNP gnomAD v4 |
| 14 | g.50302132T>C | CA115109 | L2HGDH | c.293A>G (p.His98Arg) c.*156A>G (n.*156A>G) n.433A>G c.182A>G (p.His61Arg) c.158A>G (p.His53Arg) n.532A>G c.-333A>G (n.-333A>G) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.50302132T= | CA2136137251 | L2HGDH | c.293A= (p.His98=) c.*156A= (n.*156A=) n.433A= c.182A= (p.His61=) c.158A= (p.His53=) n.532A= c.-333A= (n.-333A=) | dbSNP |