| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.3248947G>T | CA394467982 | MEFV | c.1318C>A (p.Gln440Lys) c.778C>A (p.Gln260Lys) c.685C>A (p.Gln229Lys) c.278-1701C>A (n.278-1701C>A) c.1411C>A (p.Gln471Lys) c.911-1701C>A (n.911-1701C>A) c.278-2400C>A (n.278-2400C>A) c.1315C>A (p.Gln439Lys) n.1507C>A | ClinVar dbSNP gnomAD v4 |
| 16 | g.3248947G>A | CA7860185 | MEFV | c.1318C>T (p.Gln440Ter) c.778C>T (p.Gln260Ter) c.685C>T (p.Gln229Ter) c.278-1701C>T (n.278-1701C>T) c.1411C>T (p.Gln471Ter) c.911-1701C>T (n.911-1701C>T) c.278-2400C>T (n.278-2400C>T) c.1315C>T (p.Gln439Ter) n.1507C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.3248947G>C | CA280245 | MEFV | c.1318C>G (p.Gln440Glu) c.778C>G (p.Gln260Glu) c.685C>G (p.Gln229Glu) c.278-1701C>G (n.278-1701C>G) c.1411C>G (p.Gln471Glu) c.911-1701C>G (n.911-1701C>G) c.278-2400C>G (n.278-2400C>G) c.1315C>G (p.Gln439Glu) n.1507C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |