Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.162282558G>A | CA163489 | IFIH1 | c.*711C>T (n.*711C>T) c.1114C>T (p.Leu372Phe) n.724C>T c.802C>T (p.Leu268Phe) c.397C>T (p.Leu133Phe) | ClinVar dbSNP |
2 | g.162282558G>C | CA349003180 | IFIH1 | c.*711C>G (n.*711C>G) c.1114C>G (p.Leu372Val) n.724C>G c.802C>G (p.Leu268Val) c.397C>G (p.Leu133Val) | ClinVar dbSNP |