| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.3254268G>A | CA280101 | MEFV | c.800C>T (p.Thr267Ile) c.277+2043C>T (n.277+2043C>T) n.989C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.3254268G= | CA2202664677 | MEFV | c.800C= (p.Thr267=) c.277+2043C= (n.277+2043C=) n.989C= | dbSNP |
| 16 | g.3254268G>C | CA394477400 | MEFV | c.800C>G (p.Thr267Arg) c.277+2043C>G (n.277+2043C>G) n.989C>G | dbSNP gnomAD v4 |