| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.113132727T>C | CA1838890 | IL1RN | c.288T>C (p.Ser96=) c.*160T>C (n.*160T>C) n.335T>C c.390T>C (p.Ser130=) c.399T>C (p.Ser133=) c.336T>C (p.Ser112=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.113132727T>A | CA1838891 | IL1RN | c.288T>A (p.Ser96Arg) c.*160T>A (n.*160T>A) n.335T>A c.390T>A (p.Ser130Arg) c.399T>A (p.Ser133Arg) c.336T>A (p.Ser112Arg) | dbSNP ExAC |