| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.162272314T>C | CA1934151 | IFIH1 | c.*2125A>G (n.*2125A>G) c.2411A>G (p.His804Arg) n.2138A>G c.2528A>G (p.His843Arg) c.2216A>G (p.His739Arg) c.1811A>G (p.His604Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.162272314T>A | CA348994279 | IFIH1 | c.*2125A>T (n.*2125A>T) c.2411A>T (p.His804Leu) n.2138A>T c.2528A>T (p.His843Leu) c.2216A>T (p.His739Leu) c.1811A>T (p.His604Leu) | dbSNP gnomAD v4 |
| 2 | g.162272314T>G | CA348994276 | IFIH1 | c.*2125A>C (n.*2125A>C) c.2411A>C (p.His804Pro) n.2138A>C c.2528A>C (p.His843Pro) c.2216A>C (p.His739Pro) c.1811A>C (p.His604Pro) | dbSNP |
| 2 | g.162272314T= | CA1303144953 | IFIH1 | c.*2125A= (n.*2125A=) c.2411A= (p.His804=) n.2138A= c.2528A= (p.His843=) c.2216A= (p.His739=) c.1811A= (p.His604=) | dbSNP |