| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.3254625T>G | CA276902893 | MEFV | c.443A>C (p.Glu148Ala) c.277+1686A>C (n.277+1686A>C) n.632A>C | dbSNP gnomAD v4 |
| 16 | g.3254625T>A | CA280120 | MEFV | c.443A>T (p.Glu148Val) c.277+1686A>T (n.277+1686A>T) n.632A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.3254625T= | CA2202664914 | MEFV | c.443A= (p.Glu148=) c.277+1686A= (n.277+1686A=) n.632A= | dbSNP |