| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.121993614C>A | CA129473 | ILDR1 | c.1135G>T (p.Glu379Ter) n.1085G>T c.*318G>T (n.*318G>T) c.1003G>T (p.Glu335Ter) c.868G>T (p.Glu290Ter) n.1237G>T c.1039G>T (p.Glu347Ter) c.598G>T (p.Glu200Ter) | ClinVar dbSNP |
| 3 | g.121993614C>T | CA354143821 | ILDR1 | c.1135G>A (p.Glu379Lys) n.1085G>A c.*318G>A (n.*318G>A) c.1003G>A (p.Glu335Lys) c.868G>A (p.Glu290Lys) n.1237G>A c.1039G>A (p.Glu347Lys) c.598G>A (p.Glu200Lys) | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |