| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.3249480T>C | CA7860216 | MEFV | c.1211A>G (p.His404Arg) c.671A>G (p.His224Arg) c.578A>G (p.His193Arg) c.278-2234A>G (n.278-2234A>G) c.1304A>G (p.His435Arg) c.911-2234A>G (n.911-2234A>G) c.278-2933A>G (n.278-2933A>G) n.1400A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.3249480T= | CA2202661924 | MEFV | c.1211A= (p.His404=) c.671A= (p.His224=) c.578A= (p.His193=) c.278-2234A= (n.278-2234A=) c.1304A= (p.His435=) c.911-2234A= (n.911-2234A=) c.278-2933A= (n.278-2933A=) n.1400A= | dbSNP |
| 16 | g.3249480T>G | CA394469426 | MEFV | c.1211A>C (p.His404Pro) c.671A>C (p.His224Pro) c.578A>C (p.His193Pro) c.278-2234A>C (n.278-2234A>C) c.1304A>C (p.His435Pro) c.911-2234A>C (n.911-2234A>C) c.278-2933A>C (n.278-2933A>C) n.1400A>C | dbSNP |