| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.3254746T>G | CA280583 | MEFV | c.322A>C (p.Ser108Arg) c.277+1565A>C (n.277+1565A>C) n.511A>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.3254746T>C | CA7860456 | MEFV | c.322A>G (p.Ser108Gly) c.277+1565A>G (n.277+1565A>G) n.511A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.3254746T= | CA2202665010 | MEFV | c.322A= (p.Ser108=) c.277+1565A= (n.277+1565A=) n.511A= | dbSNP |