| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.1014228G>C | CA16725514 | ISG15 | c.224G>C (p.Ser75Thr) c.248G>C (p.Ser83Thr) | dbSNP |
| 1 | g.1014228G>A | CA507658 | ISG15 | c.224G>A (p.Ser75Asn) c.248G>A (p.Ser83Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.1014228G= | CA1139772605 | ISG15 | c.224G= (p.Ser75=) c.248G= (p.Ser83=) | dbSNP |