Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.162281473T>C | CA1934538 | IFIH1 | c.*976A>G (n.*976A>G) c.1379A>G (p.His460Arg) n.989A>G c.1067A>G (p.His356Arg) c.662A>G (p.His221Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.162281473T>A | CA349002461 | IFIH1 | c.*976A>T (n.*976A>T) c.1379A>T (p.His460Leu) n.989A>T c.1067A>T (p.His356Leu) c.662A>T (p.His221Leu) | dbSNP gnomAD v3 gnomAD v4 |