| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.3254529G>A | CA276902697 | MEFV | c.539C>T (p.Pro180Leu) c.277+1782C>T (n.277+1782C>T) n.728C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.3254529G>C | CA280623 | MEFV | c.539C>G (p.Pro180Arg) c.277+1782C>G (n.277+1782C>G) n.728C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.3254529G>T | CA10588616 | MEFV | c.539C>A (p.Pro180Gln) c.277+1782C>A (n.277+1782C>A) n.728C>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |