| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.67944001G>A | CA116419 | LCAT,SLC12A4 | c.101C>T (p.Pro34Leu) c.*839C>T (n.*839C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.67944001G>T | CA396382718 | LCAT,SLC12A4 | c.101C>A (p.Pro34Gln) c.*839C>A (n.*839C>A) | dbSNP gnomAD v4 |
| 16 | g.67944001G>C | CA396382715 | LCAT,SLC12A4 | c.101C>G (p.Pro34Arg) c.*839C>G (n.*839C>G) | dbSNP gnomAD v4 |