| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.3254626C>T | CA394481486 | MEFV | c.442G>A (p.Glu148Lys) c.277+1685G>A (n.277+1685G>A) n.631G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.3254626C>A | CA394481484 | MEFV | c.442G>T (p.Glu148Ter) c.277+1685G>T (n.277+1685G>T) n.631G>T | dbSNP |
| 16 | g.3254626C>G | CA280097 | MEFV | c.442G>C (p.Glu148Gln) c.277+1685G>C (n.277+1685G>C) n.631G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |