| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.3256338C>G | CA7860492 | MEFV | c.250G>C (p.Glu84Gln) n.439G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.3256338C>T | CA7860493 | MEFV | c.250G>A (p.Glu84Lys) n.439G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.3256338C= | CA2202665853 | MEFV | c.250G= (p.Glu84=) n.439G= | dbSNP |